Neurology

Genetic testing can clearly diagnose many genetic disorders of the brain and nervous system. It can guide decisions towards more effective medical management and treatments. We have vast expert -knowledge of variants in more than 1,850 genes associated with neurological diseases. Our genetic tests can help diagnose inherited neurological conditions, such as delayed mental development, neurodegeneration, learning disabilities, movement disorders, and poor muscle control, quickly and comprehensively.

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Ataxia/Spastic paraplegia panel

Our Ataxia/Spastic paraplegia panel includes genes relevant to hereditary neurological disorders characterized by ataxia, including spinocerebellar ataxia (dominant and recessive), cerebellar ataxia, episodic ataxia, and pontocerebellar ataxia. These disorders normally share overlapping symptoms and can only be clearly differentiated by molecular genetic testing. Our ataxia panel is the best option for a patient displaying gait imbalance and uncoordinated walking (ataxia). The most common forms of inherited ataxia are caused by repeat expansion.

No. of genes:	481
TAT:	25 days
Coverage:	≥99.0% ≥20x
Details:	Next-generation sequencing with CNV analysis included mtDNA analysis included

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
AARS2	612035	Combined oxidative phosphorylation deficiency 8;Leukoencephalopathy, progressive, with ovarian failure	AR
ABCB7	300135	Anemia, sideroblastic, with ataxia	XLR
ABCD1	300371	Adrenoleukodystrophy;Adrenomyeloneuropathy, adult	XLR
ABHD12	613599	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	AR
ABHD5	604780	Chanarin-Dorfman syndrome	AR
ACAD9	611103	MT complex I deficiency, nuclear type 20	AR
ACADVL	609575	VLCAD deficiency	AR
ACO2	100850	?Optic atrophy 9;Infantile cerebellar-retinal degeneration	AR
ADAR	146920	Aicardi-Goutieres syndrome 6;Dyschromatosis symmetrica hereditaria	AR, AD
ADPRS	610624	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	AR
AFG3L2	604581	Spinocerebellar ataxia 28;Spastic ataxia 5, AR;Optic atrophy 12	AD, AR
AGK	610345	Sengers syndrome;Cataract 38, AR	AR
AGTPBP1	606830	Neurodegeneration, childhood-onset, with cerebellar atrophy	AR
AHI1	608894	Joubert syndrome 3	AR
AIFM1	300169	Cowchock syndrome;Combined oxidative phosphorylation deficiency 6;Deafness, X-linked 5;Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy	XLR
AIMP1	603605	Leukodystrophy, hypomyelinating, 3	AR
ALAS2	301300	Protoporphyria, erythropoietic, X-linked;Anemia, sideroblastic, 1	XL, XLR
ALDH18A1	138250	Cutis laxa, AD 3;Cutis laxa, autosomal recessive, type IIIA;Spastic paraplegia 9B, AR;Spastic paraplegia 9A, AD	AD, AR
ALDH5A1	610045	Succinic semialdehyde dehydrogenase deficiency	AR
ALS2	606352	Amyotrophic lateral sclerosis 2, juvenile;Spastic paralysis, infantile onset ascending;Primary lateral sclerosis, juvenile	AR
AMACR	604489	Bile acid synthesis defect, congenital, 4;Alpha-methylacyl-CoA racemase deficiency	AR
AMPD2	102771	?Spastic paraplegia 63;Pontocerebellar hypoplasia, type 9	AR
ANO10	613726	Spinocerebellar ataxia, autosomal recessive 10	AR
AP1S2	300629	Mental retardation, X-linked syndromic 5	XLR
AP4B1	607245	Spastic paraplegia 47, AR	AR
AP4E1	607244	Stuttering, familial persistent, 1;Spastic paraplegia 51, AR	AD, AR
AP4M1	602296	Spastic paraplegia 50, AR	AR
AP4S1	607243	Spastic paraplegia 52, AR	AR
AP5Z1	613653	Spastic paraplegia 48, AR	AR
APTX	606350	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	AR
ARG1	608313	Argininemia	AR
ARL13B	608922	Joubert syndrome 8	AR
ARL6	608845	Retinitis pigmentosa 55;Bardet-Biedl syndrome 1, modifier of;Bardet-Biedl syndrome 3	AR, AR, DR
ARL6IP1	607669	?Spastic paraplegia 61, AR	AR
ARSA	607574	Metachromatic leukodystrophy	AR
ATCAY	608179	Ataxia, cerebellar, Cayman type	AR
ATL1	606439	Spastic paraplegia 3A, AD;Neuropathy, hereditary sensory, type ID	AD
ATM	607585	Breast cancer, susceptibility to;Ataxia-telangiectasia	AD, SM, AR
ATP13A2	610513	Spastic paraplegia 78, AR;Kufor-Rakeb syndrome	AR
ATP1A2	182340	Developmental and epileptic encephalopathy 98;Alternating hemiplegia of childhood 1;Migraine, familial basilar;Migraine, familial hemiplegic, 2;Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	AD, AR
ATP1A3	182350	Alternating hemiplegia of childhood 2;Dystonia-12;Developmental and epileptic encephalopathy 99;CAPOS syndrome	AD
ATP2B3	300014	?Spinocerebellar ataxia, X-linked 1	XLR
ATP2B4	108732
ATP7B	606882	Wilson disease	AR
ATP8A2	605870	?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4	AR
ATRX	300032	Mental retardation-hypotonic facies syndrome, X-linked;Alpha-thalassemia/mental retardation syndrome;Alpha-thalassemia myelodysplasia syndrome, somatic	XLR, XLD
AUH	600529	3-methylglutaconic aciduria, type I	AR
B4GALNT1	601873	Spastic paraplegia 26, AR	AR
B9D1	614144	?Meckel syndrome 9;Joubert syndrome 27	AR
BBS1	209901	Bardet-Biedl syndrome 1	AR, DR
BBS10	610148	Bardet-Biedl syndrome 10	AR
BBS12	610683	Bardet-Biedl syndrome 12	AR
BBS2	606151	Bardet-Biedl syndrome 2;Retinitis pigmentosa 74	AR
BBS4	600374	Bardet-Biedl syndrome 4	AR
BBS5	603650	Bardet-Biedl syndrome 5	AR
BBS7	607590	Bardet-Biedl syndrome 7	AR
BBS9	607968	Bardet-Biedl syndrome 9	AR
BCKDHA	608348	Maple syrup urine disease, type Ia	AR
BCKDHB	248611	Maple syrup urine disease, type Ib	AR
BCS1L	603647	GRACILE syndrome;Bjornstad syndrome;MT complex III deficiency, nuclear type 1	AR
BICD2	609797	Spinal muscular atrophy, lower extremity-predominant, 2A, AD;Spinal muscular atrophy, lower extremity-predominant, 2B, AD	AD
BLOC1S1	601444
BOLA3	613183	Multiple MT dysfunctions syndrome 2 with hyperglycinemia	AR
BSCL2	606158	Lipodystrophy, congenital generalized, type 2;Encephalopathy, progressive, with or without lipodystrophy;Silver spastic paraplegia syndrome;Neuropathy, distal hereditary motor, type VC	AR, AD
BTD	609019	Biotinidase deficiency	AR
C19orf12	614297	Neurodegeneration with brain iron accumulation 4;?Spastic paraplegia 43, AR	AD, AR, AR
CA8	114815	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3	AR
CACNA1A	601011	Episodic ataxia, type 2;Migraine, familial hemiplegic, 1;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia;Spinocerebellar ataxia 6;Developemental and epileptic encephalopathy 42	AD
CACNA1G	604065	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits;Spinocerebellar ataxia 42	AD
CACNB4	601949	Epilepsy, juvenile myoclonic, susceptibility to, 6;Epilepsy, idiopathic generalized, susceptibility to, 9;Episodic ataxia, type 5	AD
CAMTA1	611501	Cerebellar ataxia, nonprogressive, with mental retardation	AD
CAPN1	114220	Spastic paraplegia 76, AR	AR
CARS2	612800	Combined oxidative phosphorylation deficiency 27	AR
CASK	300172	Mental retardation, with or without nystagmus;Mental retardation and microcephaly with pontine and cerebellar hypoplasia;FG syndrome 4	XLD
CC2D2A	612013	Meckel syndrome 6;Joubert syndrome 9;COACH syndrome 2	AR
CCDC88C	611204	Hydrocephalus, congenital, 1;?Spinocerebellar ataxia 40	AR, AD
CCT5	610150	Neuropathy, hereditary sensory, with spastic paraplegia	AR
CEP290	610142	Leber congenital amaurosis 10;Meckel syndrome 4;?Bardet-Biedl syndrome 14;Senior-Loken syndrome 6;Joubert syndrome 5	AR
CEP41	610523	Joubert syndrome 15	AR
CHMP1A	164010	Pontocerebellar hypoplasia, type 8	AR
CLCN2	600570	Epilepsy, juvenile absence, susceptibility to, 2;Hyperaldosteronism, familial, type II;Epilepsy, juvenile myoclonic, susceptibility to, 8;Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with ataxia	AD, AR
CLN5	608102	Ceroid lipofuscinosis, neuronal, 5	AR
CLN6	606725	Ceroid lipofuscinosis, neuronal, Kufs type, adult onset;Ceroid lipofuscinosis, neuronal, 6	AR
CLPB	616254	3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia	AR
CLPP	601119	Perrault syndrome 3	AR
COA6	614772	MT complex IV deficiency, nuclear type 13	AR
COA7	615623	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	AR
COA8	616003	MT complex IV deficiency, nuclear type 17	AR
COASY	609855	Neurodegeneration with brain iron accumulation 6;Pontocerebellar hypoplasia, type 12	AR
COL4A1	120130	?Retinal arteries, tortuosity of;Hemorrhage, intracerebral, susceptibility to;Microangiopathy and leukoencephalopathy, pontine, AD;Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with or without ocular anomalies	AD
COL4A2	120090	Hemorrhage, intracerebral, susceptibility to;Brain small vessel disease 2	AD
COQ2	609825	Coenzyme Q10 deficiency, primary, 1;Multiple system atrophy, susceptibility to	AR, AD, AR
COQ4	612898	Coenzyme Q10 deficiency, primary, 7	AR
COQ6	614647	Coenzyme Q10 deficiency, primary, 6	AR
COQ7	601683	?Coenzyme Q10 deficiency, primary, 8	AR
COQ8A	606980	Coenzyme Q10 deficiency, primary, 4	AR
COQ8B	615567	Nephrotic syndrome, type 9	AR
COQ9	612837	Coenzyme Q10 deficiency, primary, 5	AR
COX10	602125	MT complex IV deficiency, nuclear type 3	AR
COX15	603646	MT complex IV deficiency, nuclear type 6	AR
COX20	614698	MT complex IV deficiency, nuclear type 11	AR
COX6A1	602072	Charcot-Marie-Tooth disease, recessive intermediate D	AR
COX6B1	124089	MT complex IV deficiency, nuclear type 7	AR
CP	117700	Cerebellar ataxia;Hemosiderosis, systemic, due to aceruloplasminemia;[Hypoceruloplasminemia, hereditary]	AR
CPLANE1	614571	Orofaciodigital syndrome VI;Joubert syndrome 17	AR
CPT1C	608846	?Spastic paraplegia 73, AD	AD
CSPP1	611654	Joubert syndrome 21	AR
CSTB	601145	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)	AR
CWF19L1	616120	Spinocerebellar ataxia, autosomal recessive 17	AR
CYC1	123980	MT complex III deficiency, nuclear type 6	AR
CYP27A1	606530	Cerebrotendinous xanthomatosis	AR
CYP2U1	610670	Spastic paraplegia 56, AR	AR
CYP7B1	603711	Spastic paraplegia 5A, AR;Bile acid synthesis defect, congenital, 3	AR
DAB1	603448	Spinocerebellar ataxia 37	AD
DARS1	603084	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	AR
DARS2	610956	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	AR
DBT	248610	Maple syrup urine disease, type II	AR
DDHD1	614603	Spastic paraplegia 28, AR	AR
DDHD2	615003	Spastic paraplegia 54, AR	AR
DGUOK	601465	Portal hypertension, noncirrhotic;Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 4;MT DNA depletion syndrome 3 (hepatocerebral type)	AR
DHPS	600944	Neurodevelopmental disorder with seizures and speech and walking impairment	AR
DLAT	608770	Pyruvate dehydrogenase E2 deficiency	AR
DLD	238331	Dihydrolipoamide dehydrogenase deficiency	AR
DNA2	601810	?Seckel syndrome 8;Progressive external ophthalmoplegia with MT DNA deletions, AD 6	AR, AD
DNAJC19	608977	3-methylglutaconic aciduria, type V	AR
DNAJC5	611203	Ceroid lipofuscinosis, neuronal, 4, Parry type	AD
DNM1L	603850	Optic atrophy 5;Encephalopathy, lethal, due to defective MT peroxisomal fission 1	AD, AD, AR
DNMT1	126375	Neuropathy, hereditary sensory, type IE;Cerebellar ataxia, deafness, and narcolepsy, AD	AD
DOCK3	603123	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	AR
DSTYK	612666	Spastic paraplegia 23;Congenital anomalies of kidney and urinary tract 1	AR, AD
EARS2	612799	Combined oxidative phosphorylation deficiency 12	AR
EBF3	607407	Hypotonia, ataxia, and delayed development syndrome	AD
ECHS1	602292	MT short-chain enoyl-CoA hydratase 1 deficiency	AR
EIF2B1	606686	Leukoencephalopathy with vanishing white matter	AR
EIF2B2	606454	Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter	AR
EIF2B3	606273	Leukoencephalopathy with vanishing white matter	AR
EIF2B4	606687	Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter	AR
EIF2B5	603945	Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter	AR
ELAC2	605367	Prostate cancer, hereditary, 2, susceptibility to;Combined oxidative phosphorylation deficiency 17	AR
ELOVL4	605512	Ichthyosis, spastic quadriplegia, and mental retardation;Stargardt disease 3;Spinocerebellar ataxia 34	AR, AD
ELOVL5	611805	Spinocerebellar ataxia 38	AD
ENTPD1	601752	Spastic paraplegia 64, AR	AR
ERLIN1	611604	Spastic paraplegia 62	AR
ERLIN2	611605	Spastic paraplegia 18, AR	AR
ETFA	608053	Glutaric acidemia IIA	AR
ETFB	130410	Glutaric acidemia IIB	AR
ETFDH	231675	Glutaric acidemia IIC	AR
ETHE1	608451	Ethylmalonic encephalopathy	AR
EXOSC3	606489	Pontocerebellar hypoplasia, type 1B	AR
FA2H	611026	Spastic paraplegia 35, AR	AR
FARS2	611592	Combined oxidative phosphorylation deficiency 14;Spastic paraplegia 77, AR	AR
FASTKD2	612322	Combined oxidative phosphorylation deficiency 44	AR
FAT2	604269	Spinocerebellar ataxia 45	AD
FBXL4	605654	MT DNA depletion syndrome 13 (encephalomyopathic type)	AR
FDX2	614585	MT myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	AR
FDXR	103270	Auditory neuropathy and optic atrophy	AR
FGF14	601515	Spinocerebellar ataxia 27	AD
FH	136850	Fumarase deficiency;Leiomyomatosis and renal cell cancer	AR, AD
FLAD1	610595	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	AR
FLVCR1	609144	Ataxia, posterior column, with retinitis pigmentosa	AR
FOXRED1	613622	MT complex I deficiency, nuclear type 19	AR
FTL	134790	Neurodegeneration with brain iron accumulation 3;Hyperferritinemia-cataract syndrome;L-ferritin deficiency, dominant and recessive	AD, AD, AR
FXN	606829	Friedreich ataxia;Friedreich ataxia with retained reflexes	AR
GAD1	605363	?Cerebral palsy, spastic quadriplegic, 1;Developmental and epileptic encephalopathy 89	AR
GALC	606890	Krabbe disease	AR
GARS1	600287	Spinal muscular atrophy, infantile, James type;Charcot-Marie-Tooth disease, type 2D;Neuronopathy, distal hereditary motor, type VA	AD
GBA	606463	Lewy body dementia, susceptibility to;Gaucher disease, type IIIC;Parkinson disease, late-onset, susceptibility to;Gaucher disease, type II;Gaucher disease, type III;Gaucher disease, perinatal lethal;Gaucher disease, type I	AD, AR, AD, MF
GBA2	609471	Spastic paraplegia 46, AR	AR
GCDH	608801	Glutaricaciduria, type I	AR
GCH1	600225	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia;Hyperphenylalaninemia, BH4-deficient, B	AD, AR, AR
GFAP	137780	Alexander disease	AD
GFER	600924	Myopathy, MT progressive, with congenital cataract and developmental delay	AR
GFM1	606639	Combined oxidative phosphorylation deficiency 1	AR
GFM2	606544	Combined oxidative phosphorylation deficiency 39	AR
GJB1	304040	Charcot-Marie-Tooth neuropathy, XLD, 1	XLD
GJC2	608803	Leukodystrophy, hypomyelinating, 2;Spastic paraplegia 44, AR;Lymphatic malformation 3	AR, AD
GLRX5	609588	Spasticity, childhood-onset, with hyperglycinemia;Anemia, sideroblastic, 3, pyridoxine-refractory	AR
GOSR2	604027	Epilepsy, progressive myoclonic 6	AR
GRID2	602368	Spinocerebellar ataxia, autosomal recessive 18	AR
GRM1	604473	Spinocerebellar ataxia 44;Spinocerebellar ataxia, autosomal recessive 13	AD, AR
GSS	601002	Glutathione synthetase deficiency;Hemolytic anemia due to glutathione synthetase deficiency	AR
GTPBP3	608536	Combined oxidative phosphorylation deficiency 23	AR
HACE1	610876	Spastic paraplegia and psychomotor retardation with or without seizures	AR
HARS2	600783	Perrault syndrome 2	AR
HEPACAM	611642	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation;Megalencephalic leukoencephalopathy with subcortical cysts 2A	AD, AR
HEXA	606869	Tay-Sachs disease;[Hex A pseudodeficiency];GM2-gangliosidosis, several forms	AR
HEXB	606873	Sandhoff disease, infantile, juvenile, and adult forms	AR
HIBCH	610690	3-hydroxyisobutryl-CoA hydrolase deficiency	AR
HMGCL	613898	HMG-CoA lyase deficiency	AR
HSPD1	118190	Leukodystrophy, hypomyelinating, 4;Spastic paraplegia 13, AD	AR, AD
HTRA2	606441	Parkinson disease 13;3-methylglutaconic aciduria, type VIII	AR
IARS2	612801	?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	AR
IBA57	615316	?Spastic paraplegia 74, AR;Multiple MT dysfunctions syndrome 3	AR
INPP5E	613037	Mental retardation, truncal obesity, retinal dystrophy, and micropenis;Joubert syndrome 1	AR
IRF2BPL	611720	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	AD
ISCA2	615317	Multiple MT dysfunctions syndrome 4	AR
ISCU	611911	Myopathy with lactic acidosis, hereditary	AR
ITM2B	603904	Dementia, familial British;?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities;Dementia, familial Danish	AD
ITPR1	147265	Spinocerebellar ataxia 15;Spinocerebellar ataxia 29, congenital nonprogressive;Gillespie syndrome	AD, AD, AR
KCNA1	176260	Episodic ataxia/myokymia syndrome	AD
KCNA2	176262	Developmental and epileptic encephalopathy 32	AD
KCNC3	176264	Spinocerebellar ataxia 13	AD
KCND3	605411	Brugada syndrome 9;Spinocerebellar ataxia 19	AD
KCNJ10	602208	Enlarged vestibular aqueduct, digenic;SESAME syndrome	AR
KDM5C	314690	Mental retardation, X-linked, syndromic, Claes-Jensen type	XLR
KIDINS220	615759	Ventriculomegaly and arthrogryposis;Spastic paraplegia, intellectual disability, nystagmus, and obesity	AR, AD
KIF1A	601255	NESCAV syndrome;Spastic paraplegia 30, AR;Neuropathy, hereditary sensory, type IIC;Spastic paraplegia 30, AD	AD, AD, AR, AR
KIF1C	603060	Spastic ataxia 2, AR	AR
KIF5A	602821	Amyotrophic lateral sclerosis, susceptibility to, 25;Myoclonus, intractable, neonatal;Spastic paraplegia 10, AD	AD
KIF7	611254	Joubert syndrome 12;?Hydrolethalus syndrome 2;?Al-Gazali-Bakalinova syndrome;Acrocallosal syndrome	AR
L1CAM	308840	Hydrocephalus with congenital idiopathic intestinal pseudoobstruction;CRASH syndrome;Corpus callosum, partial agenesis of;Hydrocephalus with Hirschsprung disease;MASA syndrome;Hydrocephalus due to aqueductal stenosis	XLR
LAMA1	150320	Poretti-Boltshauser syndrome	AR
LAMP2	309060	Danon disease	XLD
LARS2	604544	?Hydrops, lactic acidosis, and sideroblastic anemia;Perrault syndrome 4	AR
LIAS	607031	Hyperglycinemia, lactic acidosis, and seizures	AR
LIPT1	610284	Lipoyltransferase 1 deficiency	AR
LMNB1	150340	Leukodystrophy, adult-onset, AD;Microcephaly 26, primary, AD	AD
LRPPRC	607544	MT complex IV deficiency, nuclear type 5, (French-Canadian)	AR
LYRM7	615831	MT complex III deficiency, nuclear type 8	AR
LYST	606897	Chediak-Higashi syndrome	AR
MAG	159460	Spastic paraplegia 75, AR	AR
MARS1	156560	Charcot-Marie-Tooth disease, axonal, type 2U;?Trichothiodystrophy 9, nonphotosensitive;Interstitial lung and liver disease	AD, AR
MARS2	609728	Spastic ataxia 3, AR;?Combined oxidative phosphorylation deficiency 25	AR
MECR	608205	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	AR
MFF	614785	Encephalopathy due to defective MT and peroxisomal fission 2	AR
MFN2	608507	Hereditary motor and sensory neuropathy VIA;Charcot-Marie-Tooth disease, axonal, type 2A2B;Charcot-Marie-Tooth disease, axonal, type 2A2A	AD, AR
MGME1	615076	MT DNA depletion syndrome 11	AR
MICU1	605084	Myopathy with extrapyramidal signs	AR
MKKS	604896	McKusick-Kaufman syndrome;Bardet-Biedl syndrome 6	AR
MKS1	609883	Bardet-Biedl syndrome 13;Joubert syndrome 28;Meckel syndrome 1	AR
MLC1	605908	Megalencephalic leukoencephalopathy with subcortical cysts	AR
MPC1	614738	MT pyruvate carrier deficiency	AR
MPV17	137960	Charcot-Marie-Tooth disease, axonal, type 2EE;MT DNA depletion syndrome 6 (hepatocerebral type)	AR
MRE11	600814	Ataxia-telangiectasia-like disorder 1	AR
MRPL3	607118	Combined oxidative phosphorylation deficiency 9	AR
MRPL44	611849	?Combined oxidative phosphorylation deficiency 16	AR
MRPS16	609204	Combined oxidative phosphorylation deficiency 2	AR
MRPS22	605810	Ovarian dysgenesis 7;Combined oxidative phosphorylation deficiency 5	AR
MSTO1	617619	Myopathy, MT, and ataxia	AD, AR
MT-ATP6
MT-ATP8
MT-CO1
MT-CO2
MT-CO3
MT-CYB
MT-ND1
MT-ND2
MT-ND3
MT-ND4
MT-ND4L
MT-ND5
MT-ND6
MT-RNR1
MT-RNR2
MT-TA
MT-TC
MT-TD
MT-TE
MT-TF
MT-TG
MT-TH
MT-TI
MT-TK
MT-TL1
MT-TL2
MT-TM
MT-TN
MT-TP
MT-TQ
MT-TR
MT-TS1
MT-TS2
MT-TT
MT-TV
MT-TW
MT-TY
MTFMT	611766	Combined oxidative phosphorylation deficiency 15;MT complex I deficiency, nuclear type 27	AR
MTO1	614667	Combined oxidative phosphorylation deficiency 10	AR
MTPAP	613669	?Spastic ataxia 4, AR	AR
MTRFR	613541	Spastic paraplegia 55, AR;Combined oxidative phosphorylation deficiency 7	AR
MTTP	157147	Metabolic syndrome, protection against;Abetalipoproteinemia	AD, AR
NARS2	612803	?Deafness, autosomal recessive 94;Combined oxidative phosphorylation deficiency 24	AR
NDUFA1	300078	MT complex I deficiency, nuclear type 12	XLR
NDUFA10	603835	MT complex I deficiency, nuclear type 22	AR
NDUFA11	612638	MT complex I deficiency, nuclear type 14	AR
NDUFA12	614530	?MT complex I deficiency, nuclear type 23	AR
NDUFA2	602137	MT complex I deficiency, nuclear type 13	AR
NDUFA9	603834	MT complex I deficiency, nuclear type 26	AR
NDUFAF1	606934	MT complex I deficiency, nuclear type 11	AR
NDUFAF2	609653	MT complex I deficiency, nuclear type 10	AR
NDUFAF3	612911	MT complex I deficiency, nuclear type 18	AR
NDUFAF4	611776	MT complex I deficiency, nuclear type 15	AR
NDUFAF5	612360	MT complex I deficiency, nuclear type 16	AR
NDUFAF6	612392	MT complex I deficiency, nuclear type 17;Fanconi renotubular syndrome 5	AR
NDUFB3	603839	MT complex I deficiency, nuclear type 25	AR
NDUFS1	157655	MT complex I deficiency, nuclear type 5	AR
NDUFS2	602985	MT complex I deficiency, nuclear type 6	AR
NDUFS3	603846	MT complex I deficiency, nuclear type 8	AR
NDUFS4	602694	MT complex I deficiency, nuclear type 1	AR
NDUFS6	603848	MT complex I deficiency, nuclear type 9	AR
NDUFS7	601825	MT complex I deficiency, nuclear type 3	AR
NDUFS8	602141	MT complex I deficiency, nuclear type 2	AR
NDUFV1	161015	MT complex I deficiency, nuclear type 4	AR
NDUFV2	600532	MT complex I deficiency, nuclear type 7	AR
NFU1	608100	Multiple MT dysfunctions syndrome 1	AR
NIPA1	608145	Spastic paraplegia 6, AD	AD
NKX6-2	605955	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	AR
NPC1	607623	Niemann-Pick disease, type C1;Niemann-Pick disease, type D	AR
NPC2	601015	Niemann-pick disease, type C2	AR
NPHP1	607100	Joubert syndrome 4;Nephronophthisis 1, juvenile;Senior-Loken syndrome-1	AR
NR2F1	132890	Bosch-Boonstra-Schaaf optic atrophy syndrome	AD
NT5C2	600417	Spastic paraplegia 45, AR	AR
NUBPL	613621	MT complex I deficiency, nuclear type 21	AR
OFD1	300170	Joubert syndrome 10;Simpson-Golabi-Behmel syndrome, type 2;?Retinitis pigmentosa 23;Orofaciodigital syndrome I	XLR, XLD
OPA1	605290	Optic atrophy 1;?MT DNA depletion syndrome 14 (encephalocardiomyopathic type);Glaucoma, normal tension, susceptibility to;Optic atrophy plus syndrome;Behr syndrome	AD, AR
OPA3	606580	3-methylglutaconic aciduria, type III;Optic atrophy 3 with cataract	AR, AD
OPHN1	300127	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	XLR
OTC	300461	Ornithine transcarbamylase deficiency	XL
PANK2	606157	HARP syndrome;Neurodegeneration with brain iron accumulation 1	AR
PARS2	612036	Developmental and epileptic encephalopathy 75	AR
PAX6	607108	?Coloboma, ocular;Aniridia;?Morning glory disc anomaly;Keratitis;Optic nerve hypoplasia;?Coloboma of optic nerve;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy;Foveal hypoplasia 1	AD
PC	608786	Pyruvate carboxylase deficiency	AR
PCCA	232000	Propionicacidemia	AR
PCCB	232050	Propionicacidemia	AR
PDHA1	300502	Pyruvate dehydrogenase E1-alpha deficiency	XLD
PDHB	179060	Pyruvate dehydrogenase E1-beta deficiency	AR
PDHX	608769	Lacticacidemia due to PDX1 deficiency	AR
PDP1	605993	Pyruvate dehydrogenase phosphatase deficiency	AR
PDSS1	607429	Coenzyme Q10 deficiency, primary, 2	AR
PDSS2	610564	Coenzyme Q10 deficiency, primary, 3	AR
PDYN	131340	Spinocerebellar ataxia 23	AD
PET100	614770	MT complex IV deficiency, nuclear type 12	AR
PEX10	602859	Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B	AR
PEX2	170993	Peroxisome biogenesis disorder 5B;Peroxisome biogenesis disorder 5A (Zellweger)	AR
PEX7	601757	Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata, type 1	AR
PGAP1	611655	Mental retardation, autosomal recessive 42	AR
PHYH	602026	Refsum disease	AR
PIK3R5	611317	Ataxia-oculomotor apraxia 3	AR
PLA2G6	603604	Neurodegeneration with brain iron accumulation 2B;Parkinson disease 14, AR;Infantile neuroaxonal dystrophy 1	AR
PLK1	602098
PLP1	300401	Pelizaeus-Merzbacher disease;Spastic paraplegia 2, XL	XLR
PMPCA	613036	Spinocerebellar ataxia, autosomal recessive 2	AR
PNKD	609023	Paroxysmal nonkinesigenic dyskinesia 1	AD
PNKP	605610	Ataxia-oculomotor apraxia 4;Microcephaly, seizures, and developmental delay;?Charcot-Marie-Tooth disease, type 2B2	AR
PNPLA6	603197	Spastic paraplegia 39, AR;Boucher-Neuhauser syndrome;Oliver-McFarlane syndrome;?Laurence-Moon syndrome	AR
PNPT1	610316	Deafness, autosomal recessive 70;Combined oxidative phosphorylation deficiency 13	AR
POLG	174763	Progressive external ophthalmoplegia, autosomal recessive 1;Progressive external ophthalmoplegia, AD 1;MT recessive ataxia syndrome (includes SANDO and SCAE);MT DNA depletion syndrome 4B (MNGIE type);MT DNA depletion syndrome 4A (Alpers type)	AR, AD
POLG2	604983	MT DNA depletion syndrome 16 (hepatic type);?MT DNA depletion syndrome 16B (neuroophthalmic type);Progressive external ophthalmoplegia with MT DNA deletions, AD 4	AR, AD
POLR3A	614258	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Wiedemann-Rautenstrauch syndrome	AR
POLR3B	614366	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism;Charcot-Marie-Tooth disease, demyelinating, type 1I	AR, AD
PRICKLE1	608500	Epilepsy, progressive myoclonic 1B	AR
PRKCG	176980	Spinocerebellar ataxia 14	AD
PRRT2	614386	Episodic kinesigenic dyskinesia 1;Convulsions, familial infantile, with paroxysmal choreoathetosis;Seizures, benign familial infantile, 2	AD
PUM1	607204	Spinocerebellar ataxia 47	AD
QARS1	603727	Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy	AR
RAB3GAP2	609275	Warburg micro syndrome 2;Martsolf syndrome	AR
RAP1GDS1	179502
RARS1	107820	Leukodystrophy, hypomyelinating, 9	AR
RARS2	611524	Pontocerebellar hypoplasia, type 6	AR
REEP1	609139	Spastic paraplegia 31, AD;?Neuronopathy, distal hereditary motor, type VB	AD
REEP2	609347	?Spastic paraplegia 72, AR;?Spastic paraplegia 72, AD	AD, AR
RMND1	614917	Combined oxidative phosphorylation deficiency 11	AR
RNASEH1	604123	Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 2	AR
RNASEH2B	610326	Aicardi-Goutieres syndrome 2	AR
RNF216	609948	Cerebellar ataxia and hypogonadotropic hypogonadism	AR
RPGRIP1L	610937	Joubert syndrome 7;?COACH syndrome 3;Meckel syndrome 5	AR
RRM2B	604712	MT DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy);Progressive external ophthalmoplegia with MT DNA deletions, AD 5;MT DNA depletion syndrome 8B (MNGIE type)	AR, AD
RTN2	603183	Spastic paraplegia 12, AD	AD
RUBCN	613516	Spinocerebellar ataxia, autosomal recessive 15	AR
SACS	604490	Spastic ataxia, Charlevoix-Saguenay type	AR
SAMD9L	611170	Ataxia-pancytopenia syndrome;Monosomy 7 myelodysplasia and leukemia syndrome 1	AD
SARS2	612804	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis	AR
SCN1A	182389	Epilepsy, generalized, with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3;Developmental and epileptic encephalopathy 6B, non-Dravet;Febrile seizures, familial, 3A;Dravet syndrome	AD
SCN2A	182390	Developmental and epileptic encephalopathy 11;Seizures, benign familial infantile, 3;Episodic ataxia, type 9	AD
SCO1	603644	MT complex IV deficiency, nuclear type 4	AR
SCO2	604272	Myopia 6;MT complex IV deficiency, nuclear type 2	AD, AR
SCYL1	607982	Spinocerebellar ataxia, autosomal recessive 21	AR
SDHA	600857	Neurodegeneration with ataxia and late-onset optic atrophy;Cardiomyopathy, dilated, 1GG;Leigh syndrome;MT respiratory chain complex II deficiency;Paragangliomas 5	AD, AR, AR, MT
SDHAF1	612848	MT complex II deficiency, nuclear type 2;MT complex II deficiency	AR
SELENOI	607915	Spastic paraplegia 81, AR	AR
SERAC1	614725	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	AR
SETX	608465	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;Amyotrophic lateral sclerosis 4, juvenile	AR, AD
SFXN4	615564	Combined oxidative phosphorylation deficiency 18	AR
SIL1	608005	Marinesco-Sjogren syndrome	AR
SLC16A2	300095	Allan-Herndon-Dudley syndrome	XL
SLC17A5	604322	Sialic acid storage disorder, infantile;Salla disease	AR
SLC19A2	603941	Thiamine-responsive megaloblastic anemia syndrome	AR
SLC19A3	606152	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)	AR
SLC1A3	600111	Episodic ataxia, type 6	AD
SLC1A4	600229	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	AR
SLC20A2	158378	Basal ganglia calcification, idiopathic, 1	AD
SLC22A5	603377	Carnitine deficiency, systemic primary	AR
SLC25A19	606521	Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type);Microcephaly, Amish type	AR
SLC25A26	611037	Combined oxidative phosphorylation deficiency 28	AR
SLC25A3	600370	MT phosphate carrier deficiency	AR
SLC25A38	610819	Anemia, sideroblastic, 2, pyridoxine-refractory	AR
SLC25A4	103220	MT DNA depletion syndrome 12B (cardiomyopathic type) AR;MT DNA depletion syndrome 12A (cardiomyopathic type) AD;Progressive external ophthalmoplegia with MT DNA deletions, AD 2	AR, AD
SLC25A46	610826	Neuropathy, hereditary motor and sensory, type VIB;Pontocerebellar hypoplasia, type 1E	AR
SLC2A1	138140	GLUT1 deficiency syndrome 2, childhood onset;GLUT1 deficiency syndrome 1, infantile onset, severe;Epilepsy, idiopathic generalized, susceptibility to, 12;Stomatin-deficient cryohydrocytosis with neurologic defects;Dystonia 9	AD, AD, AR
SLC33A1	603690	Congenital cataracts, hearing loss, and neurodegeneration;Spastic paraplegia 42, AD	AR, AD
SLC52A2	607882	Brown-Vialetto-Van Laere syndrome 2	AR
SLC52A3	613350	?Fazio-Londe disease;Brown-Vialetto-Van Laere syndrome 1	AR
SLC9A6	300231	Mental retardation, X-linked syndromic, Christianson type	XL
SNX14	616105	Spinocerebellar ataxia, autosomal recessive 20	AR
SPART	607111	Troyer syndrome	AR
SPAST	604277	Spastic paraplegia 4, AD	AD
SPG11	610844	Spastic paraplegia 11, AR;Amyotrophic lateral sclerosis 5, juvenile;Charcot-Marie-Tooth disease, axonal, type 2X	AR
SPG21	608181	Mast syndrome	AR
SPG7	602783	Spastic paraplegia 7, AR	AD, AR
SPR	182125	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	?AD, AR
SPTBN2	604985	Spinocerebellar ataxia, autosomal recessive 14;Spinocerebellar ataxia 5	AR, AD
STUB1	607207	?Spinocerebellar ataxia 48;Spinocerebellar ataxia, autosomal recessive 16	AD, AR
SUCLA2	603921	MT DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	AR
SUCLG1	611224	MT DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)	AR
SURF1	185620	Charcot-Marie-Tooth disease, type 4K;MT complex IV deficiency, nuclear type 1	AR
SYNE1	608441	Arthrogryposis multiplex congenita 3, myogenic type;Emery-Dreifuss muscular dystrophy 4, AD;Spinocerebellar ataxia, autosomal recessive 8	AR, AD
TACO1	612958	MT complex IV deficiency, nuclear type 8	AR
TARS2	612805	?Combined oxidative phosphorylation deficiency 21	AR
TBC1D24	613577	Deafness, AD 65;Deafness , autosomal recessive 86;Myoclonic epilepsy, infantile, familial;Developmental and epileptic encephalopathy 16;DOORS syndrome;Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp	AD, AR
TCTN1	609863	Joubert syndrome 13	AR
TCTN2	613846	?Meckel syndrome 8;Joubert syndrome 24	AR
TCTN3	613847	Joubert syndrome 18;Orofaciodigital syndrome IV	AR
TDP1	607198	?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	AR
TECPR2	615000	Spastic paraplegia 49, AR	AR
TFG	602498	Hereditary motor and sensory neuropathy, Okinawa type;?Spastic paraplegia 57, AR	AD, AR
TGM6	613900	Spinocerebellar ataxia 35	AD
TIMM8A	300356	Mohr-Tranebjaerg syndrome	XLR
TK2	188250	MT DNA depletion syndrome 2 (myopathic type);?Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 3	AR
TMEM126B	615533	MT complex I deficiency, nuclear type 29	AR
TMEM138	614459	Joubert syndrome 16	AR
TMEM216	613277	Meckel syndrome 2;Joubert syndrome 2	AR
TMEM231	614949	Joubert syndrome 20;Meckel syndrome 11	AR
TMEM237	614423	Joubert syndrome 14	AR
TMEM240	616101	Spinocerebellar ataxia 21	AD
TMEM67	609884	COACH syndrome 1;?RHYNS syndrome;Meckel syndrome 3;Joubert syndrome 6;Bardet-Biedl syndrome 14, modifier of;Nephronophthisis 11	AR
TMEM70	612418	MT complex V (ATP synthase) deficiency, nuclear type 2	AR
TPK1	606370	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	AR
TPP1	607998	Ceroid lipofuscinosis, neuronal, 2;Spinocerebellar ataxia, autosomal recessive 7	AR
TRIM32	602290	Muscular dystrophy, limb-girdle, autosomal recessive 8;?Bardet-Biedl syndrome 11	AR
TRIT1	617840	Combined oxidative phosphorylation deficiency 35	AR
TRMT10C	615423	Combined oxidative phosphorylation deficiency 30	AR
TRNT1	612907	Retinitis pigmentosa and erythrocytic microcytosis;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	AR
TSEN2	608753	Pontocerebellar hypoplasia type 2B	AR
TSEN34	608754	?Pontocerebellar hypoplasia type 2C	AR
TSEN54	608755	Pontocerebellar hypoplasia type 2A;?Pontocerebellar hypoplasia type 5;Pontocerebellar hypoplasia type 4	AR
TSFM	604723	Combined oxidative phosphorylation deficiency 3	AR
TTBK2	611695	Spinocerebellar ataxia 11	AD
TTC19	613814	MT complex III deficiency, nuclear type 2	AR
TTC8	608132	Bardet-Biedl syndrome 8;?Retinitis pigmentosa 51	AR
TTPA	600415	Ataxia with isolated vitamin E deficiency	AR
TTR	176300	[Dystransthyretinemic hyperthyroxinemia];Carpal tunnel syndrome, familial;Amyloidosis, hereditary, transthyretin-related	AD
TUBB4A	602662	Dystonia 4, torsion, AD;Leukodystrophy, hypomyelinating, 6	AD
TUFM	602389	Combined oxidative phosphorylation deficiency 4	AR
TWNK	606075	Progressive external ophthalmoplegia with MT DNA deletions, AD 3;Perrault syndrome 5;MT DNA depletion syndrome 7 (hepatocerebral type)	AD, AR
TYMP	131222	MT DNA depletion syndrome 1 (MNGIE type)	AR
UBA5	610552	Developmental and epileptic encephalopathy 44;?Spinocerebellar ataxia, autosomal recessive 24	AR
UBAP1	609787	Spastic paraplegia 80, AD	AD
UBE3A	601623	Angelman syndrome	AD
UBTF	600673	Neurodegeneration, childhood-onset, with brain atrophy	AD
UCHL1	191342	?Parkinson disease 5, susceptibility to;Spastic paraplegia 79, AR	AD, AR
UNC80	612636	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	AR
UQCC2	614461	MT complex III deficiency, nuclear type 7	AR
UQCRB	191330	MT complex III deficiency, nuclear type 3	AR
UQCRC2	191329	MT complex III deficiency, nuclear type 5	AR
UQCRQ	612080	MT complex III deficiency, nuclear type 4	AR
USP8	603158	Pituitary adenoma 4, ACTH-secreting, somatic
VAMP1	185880	Myasthenic syndrome, congenital, 25;Spastic ataxia 1, AD	AR, AD
VARS2	612802	Combined oxidative phosphorylation deficiency 20	AR
VCP	601023	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1;Charcot-Marie-Tooth disease, type 2Y;Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	AD
VLDLR	192977	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1	AR
VPS37A	609927	Spastic paraplegia 53, AR	AR
VRK1	602168	Pontocerebellar hypoplasia type 1A	AR
WASHC5	610657	Spastic paraplegia 8, AD;Ritscher-Schinzel syndrome 1	AD, AR
WDR45	300526	Neurodegeneration with brain iron accumulation 5	XLD
WDR45B	609226	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	AR
WDR81	614218	Hydrocephalus, congenital, 3, with brain anomalies;Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	AR
WFS1	606201	?Cataract 41;Wolfram-like syndrome, AD;Wolfram syndrome 1;Diabetes mellitus, noninsulin-dependent, association with;Deafness, AD 6/14/38	AD, AR
WWOX	605131	Esophageal squamous cell carcinoma, somatic;Developmental and epileptic encephalopathy 28;Spinocerebellar ataxia, autosomal recessive 12	AR
YARS2	610957	Myopathy, lactic acidosis, and sideroblastic anemia 2	AR
ZFYVE26	612012	Spastic paraplegia 15, AR	AR
ZFYVE27	610243	Spastic paraplegia 33, AD	AD
ZNF423	604557	Joubert syndrome 19;Nephronophthisis 14	AD, AR

Ataxia/Spastic paraplegia comprehensive Panel

No. of genes:	492
TAT:	25 days
Coverage:	≥99.0% ≥20x
Details:	Next-generation sequencing with CNV included Repeat expansion analysis included mtDNA analysis included

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
ATXN1	601556	Spinocerebellar ataxia 1	AD
ATXN2	601517	Spinocerebellar ataxia 2;Parkinson disease, late-onset, susceptibility to;Amyotrophic lateral sclerosis, susceptibility to, 13	AD, AD, MF
ATXN3	607047	Machado-Joseph disease	AD
ATXN7	607640	Spinocerebellar ataxia 7	AD
BEAN1	612051	Spinocerebellar ataxia 31	AD
CACNA1A	601011	Episodic ataxia, type 2;Migraine, familial hemiplegic, 1;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia;Spinocerebellar ataxia 6;Developemental and epileptic encephalopathy 42	AD
PPP2R2B	604325	Spinocerebellar ataxia 12	AD
TBP	600075	Spinocerebellar ataxia 17;Parkinson disease, susceptibility to	AD, AD, MF
ATXN10	611150	Spinocerebellar ataxia 10	AD
ATN1	607462	Dentatorubral-pallidoluysian atrophy;Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	AD
NOP56	614154	Spinocerebellar ataxia 36	AD
FXN	606829	Friedreich ataxia;Friedreich ataxia with retained reflexes	AR
AARS2	612035	Combined oxidative phosphorylation deficiency 8;Leukoencephalopathy, progressive, with ovarian failure	AR
ABCB7	300135	Anemia, sideroblastic, with ataxia	XLR
ABCD1	300371	Adrenoleukodystrophy;Adrenomyeloneuropathy, adult	XLR
ABHD12	613599	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	AR
ABHD5	604780	Chanarin-Dorfman syndrome	AR
ACAD9	611103	MT complex I deficiency, nuclear type 20	AR
ACADVL	609575	VLCAD deficiency	AR
ACO2	100850	?Optic atrophy 9;Infantile cerebellar-retinal degeneration	AR
ADAR	146920	Aicardi-Goutieres syndrome 6;Dyschromatosis symmetrica hereditaria	AR, AD
ADPRS	610624	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	AR
AFG3L2	604581	Spinocerebellar ataxia 28;Spastic ataxia 5, AR;Optic atrophy 12	AD, AR
AGK	610345	Sengers syndrome;Cataract 38, AR	AR
AGTPBP1	606830	Neurodegeneration, childhood-onset, with cerebellar atrophy	AR
AHI1	608894	Joubert syndrome 3	AR
AIFM1	300169	Cowchock syndrome;Combined oxidative phosphorylation deficiency 6;Deafness, X-linked 5;Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy	XLR
AIMP1	603605	Leukodystrophy, hypomyelinating, 3	AR
ALAS2	301300	Protoporphyria, erythropoietic, X-linked;Anemia, sideroblastic, 1	XL, XLR
ALDH18A1	138250	Cutis laxa, AD 3;Cutis laxa, autosomal recessive, type IIIA;Spastic paraplegia 9B, AR;Spastic paraplegia 9A, AD	AD, AR
ALDH5A1	610045	Succinic semialdehyde dehydrogenase deficiency	AR
ALS2	606352	Amyotrophic lateral sclerosis 2, juvenile;Spastic paralysis, infantile onset ascending;Primary lateral sclerosis, juvenile	AR
AMACR	604489	Bile acid synthesis defect, congenital, 4;Alpha-methylacyl-CoA racemase deficiency	AR
AMPD2	102771	?Spastic paraplegia 63;Pontocerebellar hypoplasia, type 9	AR
ANO10	613726	Spinocerebellar ataxia, autosomal recessive 10	AR
AP1S2	300629	Mental retardation, X-linked syndromic 5	XLR
AP4B1	607245	Spastic paraplegia 47, AR	AR
AP4E1	607244	Stuttering, familial persistent, 1;Spastic paraplegia 51, AR	AD, AR
AP4M1	602296	Spastic paraplegia 50, AR	AR
AP4S1	607243	Spastic paraplegia 52, AR	AR
AP5Z1	613653	Spastic paraplegia 48, AR	AR
APTX	606350	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	AR
ARG1	608313	Argininemia	AR
ARL13B	608922	Joubert syndrome 8	AR
ARL6	608845	Retinitis pigmentosa 55;Bardet-Biedl syndrome 1, modifier of;Bardet-Biedl syndrome 3	AR, AR, DR
ARL6IP1	607669	?Spastic paraplegia 61, AR	AR
ARSA	607574	Metachromatic leukodystrophy	AR
ATCAY	608179	Ataxia, cerebellar, Cayman type	AR
ATL1	606439	Spastic paraplegia 3A, AD;Neuropathy, hereditary sensory, type ID	AD
ATM	607585	Breast cancer, susceptibility to;Ataxia-telangiectasia	AD, SM, AR
ATN1	607462	Dentatorubral-pallidoluysian atrophy;Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	AD
ATP13A2	610513	Spastic paraplegia 78, AR;Kufor-Rakeb syndrome	AR
ATP1A2	182340	Developmental and epileptic encephalopathy 98;Alternating hemiplegia of childhood 1;Migraine, familial basilar;Migraine, familial hemiplegic, 2;Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	AD, AR
ATP1A3	182350	Alternating hemiplegia of childhood 2;Dystonia-12;Developmental and epileptic encephalopathy 99;CAPOS syndrome	AD
ATP2B3	300014	?Spinocerebellar ataxia, X-linked 1	XLR
ATP2B4	108732
ATP7B	606882	Wilson disease	AR
ATP8A2	605870	?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4	AR
ATRX	300032	Mental retardation-hypotonic facies syndrome, X-linked;Alpha-thalassemia/mental retardation syndrome;Alpha-thalassemia myelodysplasia syndrome, somatic	XLR, XLD
ATXN1	601556	Spinocerebellar ataxia 1	AD
ATXN10	611150	Spinocerebellar ataxia 10	AD
ATXN2	601517	Spinocerebellar ataxia 2;Parkinson disease, late-onset, susceptibility to;Amyotrophic lateral sclerosis, susceptibility to, 13	AD, AD, MF
ATXN3	607047	Machado-Joseph disease	AD
ATXN7	607640	Spinocerebellar ataxia 7	AD
ATXN8OS	603680	Parkinson disease, susceptibility to;Spinocerebellar ataxia 8	AD, MF, AD
AUH	600529	3-methylglutaconic aciduria, type I	AR
B4GALNT1	601873	Spastic paraplegia 26, AR	AR
B9D1	614144	?Meckel syndrome 9;Joubert syndrome 27	AR
BBS1	209901	Bardet-Biedl syndrome 1	AR, DR
BBS10	610148	Bardet-Biedl syndrome 10	AR
BBS12	610683	Bardet-Biedl syndrome 12	AR
BBS2	606151	Bardet-Biedl syndrome 2;Retinitis pigmentosa 74	AR
BBS4	600374	Bardet-Biedl syndrome 4	AR
BBS5	603650	Bardet-Biedl syndrome 5	AR
BBS7	607590	Bardet-Biedl syndrome 7	AR
BBS9	607968	Bardet-Biedl syndrome 9	AR
BCKDHA	608348	Maple syrup urine disease, type Ia	AR
BCKDHB	248611	Maple syrup urine disease, type Ib	AR
BCS1L	603647	GRACILE syndrome;Bjornstad syndrome;MT complex III deficiency, nuclear type 1	AR
BEAN1	612051	Spinocerebellar ataxia 31	AD
BICD2	609797	Spinal muscular atrophy, lower extremity-predominant, 2A, AD;Spinal muscular atrophy, lower extremity-predominant, 2B, AD	AD
BLOC1S1	601444
BOLA3	613183	Multiple MT dysfunctions syndrome 2 with hyperglycinemia	AR
BSCL2	606158	Lipodystrophy, congenital generalized, type 2;Encephalopathy, progressive, with or without lipodystrophy;Silver spastic paraplegia syndrome;Neuropathy, distal hereditary motor, type VC	AR, AD
BTD	609019	Biotinidase deficiency	AR
C19orf12	614297	Neurodegeneration with brain iron accumulation 4;?Spastic paraplegia 43, AR	AD, AR, AR
CA8	114815	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3	AR
CACNA1A	601011	Episodic ataxia, type 2;Migraine, familial hemiplegic, 1;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia;Spinocerebellar ataxia 6;Developemental and epileptic encephalopathy 42	AD
CACNA1G	604065	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits;Spinocerebellar ataxia 42	AD
CACNB4	601949	Epilepsy, juvenile myoclonic, susceptibility to, 6;Epilepsy, idiopathic generalized, susceptibility to, 9;Episodic ataxia, type 5	AD
CAMTA1	611501	Cerebellar ataxia, nonprogressive, with mental retardation	AD
CAPN1	114220	Spastic paraplegia 76, AR	AR
CARS2	612800	Combined oxidative phosphorylation deficiency 27	AR
CASK	300172	Mental retardation, with or without nystagmus;Mental retardation and microcephaly with pontine and cerebellar hypoplasia;FG syndrome 4	XLD
CC2D2A	612013	Meckel syndrome 6;Joubert syndrome 9;COACH syndrome 2	AR
CCDC88C	611204	Hydrocephalus, congenital, 1;?Spinocerebellar ataxia 40	AR, AD
CCT5	610150	Neuropathy, hereditary sensory, with spastic paraplegia	AR
CEP290	610142	Leber congenital amaurosis 10;Meckel syndrome 4;?Bardet-Biedl syndrome 14;Senior-Loken syndrome 6;Joubert syndrome 5	AR
CEP41	610523	Joubert syndrome 15	AR
CHMP1A	164010	Pontocerebellar hypoplasia, type 8	AR
CLCN2	600570	Epilepsy, juvenile absence, susceptibility to, 2;Hyperaldosteronism, familial, type II;Epilepsy, juvenile myoclonic, susceptibility to, 8;Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with ataxia	AD, AR
CLN5	608102	Ceroid lipofuscinosis, neuronal, 5	AR
CLN6	606725	Ceroid lipofuscinosis, neuronal, Kufs type, adult onset;Ceroid lipofuscinosis, neuronal, 6	AR
CLPB	616254	3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia	AR
CLPP	601119	Perrault syndrome 3	AR
COA6	614772	MT complex IV deficiency, nuclear type 13	AR
COA7	615623	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	AR
COA8	616003	MT complex IV deficiency, nuclear type 17	AR
COASY	609855	Neurodegeneration with brain iron accumulation 6;Pontocerebellar hypoplasia, type 12	AR
COL4A1	120130	?Retinal arteries, tortuosity of;Hemorrhage, intracerebral, susceptibility to;Microangiopathy and leukoencephalopathy, pontine, AD;Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with or without ocular anomalies	AD
COL4A2	120090	Hemorrhage, intracerebral, susceptibility to;Brain small vessel disease 2	AD
COQ2	609825	Coenzyme Q10 deficiency, primary, 1;Multiple system atrophy, susceptibility to	AR, AD, AR
COQ4	612898	Coenzyme Q10 deficiency, primary, 7	AR
COQ6	614647	Coenzyme Q10 deficiency, primary, 6	AR
COQ7	601683	?Coenzyme Q10 deficiency, primary, 8	AR
COQ8A	606980	Coenzyme Q10 deficiency, primary, 4	AR
COQ8B	615567	Nephrotic syndrome, type 9	AR
COQ9	612837	Coenzyme Q10 deficiency, primary, 5	AR
COX10	602125	MT complex IV deficiency, nuclear type 3	AR
COX15	603646	MT complex IV deficiency, nuclear type 6	AR
COX20	614698	MT complex IV deficiency, nuclear type 11	AR
COX6A1	602072	Charcot-Marie-Tooth disease, recessive intermediate D	AR
COX6B1	124089	MT complex IV deficiency, nuclear type 7	AR
CP	117700	Cerebellar ataxia;Hemosiderosis, systemic, due to aceruloplasminemia;[Hypoceruloplasminemia, hereditary]	AR
CPT1C	608846	?Spastic paraplegia 73, AD	AD
CSPP1	611654	Joubert syndrome 21	AR
CSTB	601145	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)	AR
CWF19L1	616120	Spinocerebellar ataxia, autosomal recessive 17	AR
CYC1	123980	MT complex III deficiency, nuclear type 6	AR
CYP27A1	606530	Cerebrotendinous xanthomatosis	AR
CYP2U1	610670	Spastic paraplegia 56, AR	AR
CYP7B1	603711	Spastic paraplegia 5A, AR;Bile acid synthesis defect, congenital, 3	AR
DAB1	603448	Spinocerebellar ataxia 37	AD
DARS1	603084	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	AR
DARS2	610956	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	AR
DBT	248610	Maple syrup urine disease, type II	AR
DDHD1	614603	Spastic paraplegia 28, AR	AR
DDHD2	615003	Spastic paraplegia 54, AR	AR
DGUOK	601465	Portal hypertension, noncirrhotic;Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 4;MT DNA depletion syndrome 3 (hepatocerebral type)	AR
DHPS	600944	Neurodevelopmental disorder with seizures and speech and walking impairment	AR
DLAT	608770	Pyruvate dehydrogenase E2 deficiency	AR
DLD	238331	Dihydrolipoamide dehydrogenase deficiency	AR
DNA2	601810	?Seckel syndrome 8;Progressive external ophthalmoplegia with MT DNA deletions, AD 6	AR, AD
DNAJC19	608977	3-methylglutaconic aciduria, type V	AR
DNAJC5	611203	Ceroid lipofuscinosis, neuronal, 4, Parry type	AD
DNM1L	603850	Optic atrophy 5;Encephalopathy, lethal, due to defective MT peroxisomal fission 1	AD, AD, AR
DNMT1	126375	Neuropathy, hereditary sensory, type IE;Cerebellar ataxia, deafness, and narcolepsy, AD	AD
DOCK3	603123	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	AR
DSTYK	612666	Spastic paraplegia 23;Congenital anomalies of kidney and urinary tract 1	AR, AD
EARS2	612799	Combined oxidative phosphorylation deficiency 12	AR
EBF3	607407	Hypotonia, ataxia, and delayed development syndrome	AD
ECHS1	602292	MT short-chain enoyl-CoA hydratase 1 deficiency	AR
EIF2B1	606686	Leukoencephalopathy with vanishing white matter	AR
EIF2B2	606454	Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter	AR
EIF2B3	606273	Leukoencephalopathy with vanishing white matter	AR
EIF2B4	606687	Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter	AR
EIF2B5	603945	Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter	AR
ELAC2	605367	Prostate cancer, hereditary, 2, susceptibility to;Combined oxidative phosphorylation deficiency 17	AR
ELOVL4	605512	Ichthyosis, spastic quadriplegia, and mental retardation;Stargardt disease 3;Spinocerebellar ataxia 34	AR, AD
ELOVL5	611805	Spinocerebellar ataxia 38	AD
ENTPD1	601752	Spastic paraplegia 64, AR	AR
ERLIN1	611604	Spastic paraplegia 62	AR
ERLIN2	611605	Spastic paraplegia 18, AR	AR
ETFA	608053	Glutaric acidemia IIA	AR
ETFB	130410	Glutaric acidemia IIB	AR
ETFDH	231675	Glutaric acidemia IIC	AR
ETHE1	608451	Ethylmalonic encephalopathy	AR
EXOSC3	606489	Pontocerebellar hypoplasia, type 1B	AR
FA2H	611026	Spastic paraplegia 35, AR	AR
FARS2	611592	Combined oxidative phosphorylation deficiency 14;Spastic paraplegia 77, AR	AR
FASTKD2	612322	Combined oxidative phosphorylation deficiency 44	AR
FAT2	604269	Spinocerebellar ataxia 45	AD
FBXL4	605654	MT DNA depletion syndrome 13 (encephalomyopathic type)	AR
FDX2	614585	MT myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	AR
FDXR	103270	Auditory neuropathy and optic atrophy	AR
FGF14	601515	Spinocerebellar ataxia 27	AD
FH	136850	Fumarase deficiency;Leiomyomatosis and renal cell cancer	AR, AD
FLAD1	610595	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	AR
FLVCR1	609144	Ataxia, posterior column, with retinitis pigmentosa	AR
FOXRED1	613622	MT complex I deficiency, nuclear type 19	AR
FTL	134790	Neurodegeneration with brain iron accumulation 3;Hyperferritinemia-cataract syndrome;L-ferritin deficiency, dominant and recessive	AD, AD, AR
FXN	606829	Friedreich ataxia;Friedreich ataxia with retained reflexes	AR
GAD1	605363	?Cerebral palsy, spastic quadriplegic, 1;Developmental and epileptic encephalopathy 89	AR
GALC	606890	Krabbe disease	AR
GARS1	600287	Spinal muscular atrophy, infantile, James type;Charcot-Marie-Tooth disease, type 2D;Neuronopathy, distal hereditary motor, type VA	AD
GBA	606463	Lewy body dementia, susceptibility to;Gaucher disease, type IIIC;Parkinson disease, late-onset, susceptibility to;Gaucher disease, type II;Gaucher disease, type III;Gaucher disease, perinatal lethal;Gaucher disease, type I	AD, AR, AD, MF
GBA2	609471	Spastic paraplegia 46, AR	AR
GCDH	608801	Glutaricaciduria, type I	AR
GCH1	600225	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia;Hyperphenylalaninemia, BH4-deficient, B	AD, AR, AR
GFAP	137780	Alexander disease	AD
GFER	600924	Myopathy, MT progressive, with congenital cataract and developmental delay	AR
GFM1	606639	Combined oxidative phosphorylation deficiency 1	AR
GFM2	606544	Combined oxidative phosphorylation deficiency 39	AR
GJB1	304040	Charcot-Marie-Tooth neuropathy, XLD, 1	XLD
GJC2	608803	Leukodystrophy, hypomyelinating, 2;Spastic paraplegia 44, AR;Lymphatic malformation 3	AR, AD
GLRX5	609588	Spasticity, childhood-onset, with hyperglycinemia;Anemia, sideroblastic, 3, pyridoxine-refractory	AR
GOSR2	604027	Epilepsy, progressive myoclonic 6	AR
GRID2	602368	Spinocerebellar ataxia, autosomal recessive 18	AR
GRM1	604473	Spinocerebellar ataxia 44;Spinocerebellar ataxia, autosomal recessive 13	AD, AR
GSS	601002	Glutathione synthetase deficiency;Hemolytic anemia due to glutathione synthetase deficiency	AR
GTPBP3	608536	Combined oxidative phosphorylation deficiency 23	AR
HACE1	610876	Spastic paraplegia and psychomotor retardation with or without seizures	AR
HARS2	600783	Perrault syndrome 2	AR
HEPACAM	611642	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation;Megalencephalic leukoencephalopathy with subcortical cysts 2A	AD, AR
HEXA	606869	Tay-Sachs disease;[Hex A pseudodeficiency];GM2-gangliosidosis, several forms	AR
HEXB	606873	Sandhoff disease, infantile, juvenile, and adult forms	AR
HIBCH	610690	3-hydroxyisobutryl-CoA hydrolase deficiency	AR
HMGCL	613898	HMG-CoA lyase deficiency	AR
HSPD1	118190	Leukodystrophy, hypomyelinating, 4;Spastic paraplegia 13, AD	AR, AD
HTRA2	606441	Parkinson disease 13;3-methylglutaconic aciduria, type VIII	AR
IARS2	612801	?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	AR
IBA57	615316	?Spastic paraplegia 74, AR;Multiple MT dysfunctions syndrome 3	AR
INPP5E	613037	Mental retardation, truncal obesity, retinal dystrophy, and micropenis;Joubert syndrome 1	AR
IRF2BPL	611720	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	AD
ISCA2	615317	Multiple MT dysfunctions syndrome 4	AR
ISCU	611911	Myopathy with lactic acidosis, hereditary	AR
ITM2B	603904	Dementia, familial British;?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities;Dementia, familial Danish	AD
ITPR1	147265	Spinocerebellar ataxia 15;Spinocerebellar ataxia 29, congenital nonprogressive;Gillespie syndrome	AD, AD, AR
KCNA1	176260	Episodic ataxia/myokymia syndrome	AD
KCNA2	176262	Developmental and epileptic encephalopathy 32	AD
KCNC3	176264	Spinocerebellar ataxia 13	AD
KCND3	605411	Brugada syndrome 9;Spinocerebellar ataxia 19	AD
KCNJ10	602208	Enlarged vestibular aqueduct, digenic;SESAME syndrome	AR
KDM5C	314690	Mental retardation, X-linked, syndromic, Claes-Jensen type	XLR
KIDINS220	615759	Ventriculomegaly and arthrogryposis;Spastic paraplegia, intellectual disability, nystagmus, and obesity	AR, AD
KIF1A	601255	NESCAV syndrome;Spastic paraplegia 30, AR;Neuropathy, hereditary sensory, type IIC;Spastic paraplegia 30, AD	AD, AD, AR, AR
KIF1C	603060	Spastic ataxia 2, AR	AR
KIF5A	602821	Amyotrophic lateral sclerosis, susceptibility to, 25;Myoclonus, intractable, neonatal;Spastic paraplegia 10, AD	AD
KIF7	611254	Joubert syndrome 12;?Hydrolethalus syndrome 2;?Al-Gazali-Bakalinova syndrome;Acrocallosal syndrome	AR
L1CAM	308840	Hydrocephalus with congenital idiopathic intestinal pseudoobstruction;CRASH syndrome;Corpus callosum, partial agenesis of;Hydrocephalus with Hirschsprung disease;MASA syndrome;Hydrocephalus due to aqueductal stenosis	XLR
LAMA1	150320	Poretti-Boltshauser syndrome	AR
LAMP2	309060	Danon disease	XLD
LARS2	604544	?Hydrops, lactic acidosis, and sideroblastic anemia;Perrault syndrome 4	AR
LIAS	607031	Hyperglycinemia, lactic acidosis, and seizures	AR
LIPT1	610284	Lipoyltransferase 1 deficiency	AR
LMNB1	150340	Leukodystrophy, adult-onset, AD;Microcephaly 26, primary, AD	AD
LRPPRC	607544	MT complex IV deficiency, nuclear type 5, (French-Canadian)	AR
LYRM7	615831	MT complex III deficiency, nuclear type 8	AR
LYST	606897	Chediak-Higashi syndrome	AR
MAG	159460	Spastic paraplegia 75, AR	AR
MARS1	156560	Charcot-Marie-Tooth disease, axonal, type 2U;?Trichothiodystrophy 9, nonphotosensitive;Interstitial lung and liver disease	AD, AR
MARS2	609728	Spastic ataxia 3, AR;?Combined oxidative phosphorylation deficiency 25	AR
MECR	608205	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	AR
MFF	614785	Encephalopathy due to defective MT and peroxisomal fission 2	AR
MFN2	608507	Hereditary motor and sensory neuropathy VIA;Charcot-Marie-Tooth disease, axonal, type 2A2B;Charcot-Marie-Tooth disease, axonal, type 2A2A	AD, AR
MGME1	615076	MT DNA depletion syndrome 11	AR
MICU1	605084	Myopathy with extrapyramidal signs	AR
MKKS	604896	McKusick-Kaufman syndrome;Bardet-Biedl syndrome 6	AR
MKS1	609883	Bardet-Biedl syndrome 13;Joubert syndrome 28;Meckel syndrome 1	AR
MLC1	605908	Megalencephalic leukoencephalopathy with subcortical cysts	AR
MPC1	614738	MT pyruvate carrier deficiency	AR
MPV17	137960	Charcot-Marie-Tooth disease, axonal, type 2EE;MT DNA depletion syndrome 6 (hepatocerebral type)	AR
MRE11	600814	Ataxia-telangiectasia-like disorder 1	AR
MRPL3	607118	Combined oxidative phosphorylation deficiency 9	AR
MRPL44	611849	?Combined oxidative phosphorylation deficiency 16	AR
MRPS16	609204	Combined oxidative phosphorylation deficiency 2	AR
MRPS22	605810	Ovarian dysgenesis 7;Combined oxidative phosphorylation deficiency 5	AR
MSTO1	617619	Myopathy, MT, and ataxia	AD, AR
MT-ATP6
MT-ATP8
MT-CO1
MT-CO2
MT-CO3
MT-CYB
MT-ND1
MT-ND2
MT-ND3
MT-ND4
MT-ND4L
MT-ND5
MT-ND6
MT-RNR1
MT-RNR2
MT-TA
MT-TC
MT-TD
MT-TE
MT-TF
MT-TG
MT-TH
MT-TI
MT-TK
MT-TL1
MT-TL2
MT-TM
MT-TN
MT-TP
MT-TQ
MT-TR
MT-TS1
MT-TS2
MT-TT
MT-TV
MT-TW
MT-TY
MTFMT	611766	Combined oxidative phosphorylation deficiency 15;MT complex I deficiency, nuclear type 27	AR
MTO1	614667	Combined oxidative phosphorylation deficiency 10	AR
MTPAP	613669	?Spastic ataxia 4, AR	AR
MTRFR	613541	Spastic paraplegia 55, AR;Combined oxidative phosphorylation deficiency 7	AR
MTTP	157147	Metabolic syndrome, protection against;Abetalipoproteinemia	AD, AR
NARS2	612803	?Deafness, autosomal recessive 94;Combined oxidative phosphorylation deficiency 24	AR
NDUFA1	300078	MT complex I deficiency, nuclear type 12	XLR
NDUFA10	603835	MT complex I deficiency, nuclear type 22	AR
NDUFA11	612638	MT complex I deficiency, nuclear type 14	AR
NDUFA12	614530	?MT complex I deficiency, nuclear type 23	AR
NDUFA2	602137	MT complex I deficiency, nuclear type 13	AR
NDUFA9	603834	MT complex I deficiency, nuclear type 26	AR
NDUFAF1	606934	MT complex I deficiency, nuclear type 11	AR
NDUFAF2	609653	MT complex I deficiency, nuclear type 10	AR
NDUFAF3	612911	MT complex I deficiency, nuclear type 18	AR
NDUFAF4	611776	MT complex I deficiency, nuclear type 15	AR
NDUFAF5	612360	MT complex I deficiency, nuclear type 16	AR
NDUFAF6	612392	MT complex I deficiency, nuclear type 17;Fanconi renotubular syndrome 5	AR
NDUFB3	603839	MT complex I deficiency, nuclear type 25	AR
NDUFS1	157655	MT complex I deficiency, nuclear type 5	AR
NDUFS2	602985	MT complex I deficiency, nuclear type 6	AR
NDUFS3	603846	MT complex I deficiency, nuclear type 8	AR
NDUFS4	602694	MT complex I deficiency, nuclear type 1	AR
NDUFS6	603848	MT complex I deficiency, nuclear type 9	AR
NDUFS7	601825	MT complex I deficiency, nuclear type 3	AR
NDUFS8	602141	MT complex I deficiency, nuclear type 2	AR
NDUFV1	161015	MT complex I deficiency, nuclear type 4	AR
NDUFV2	600532	MT complex I deficiency, nuclear type 7	AR
NFU1	608100	Multiple MT dysfunctions syndrome 1	AR
NIPA1	608145	Spastic paraplegia 6, AD	AD
NKX6-2	605955	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	AR
NOP56	614154	Spinocerebellar ataxia 36	AD
NPC1	607623	Niemann-Pick disease, type C1;Niemann-Pick disease, type D	AR
NPC2	601015	Niemann-pick disease, type C2	AR
NPHP1	607100	Joubert syndrome 4;Nephronophthisis 1, juvenile;Senior-Loken syndrome-1	AR
NR2F1	132890	Bosch-Boonstra-Schaaf optic atrophy syndrome	AD
NT5C2	600417	Spastic paraplegia 45, AR	AR
NUBPL	613621	MT complex I deficiency, nuclear type 21	AR
OFD1	300170	Joubert syndrome 10;Simpson-Golabi-Behmel syndrome, type 2;?Retinitis pigmentosa 23;Orofaciodigital syndrome I	XLR, XLD
OPA1	605290	Optic atrophy 1;?MT DNA depletion syndrome 14 (encephalocardiomyopathic type);Glaucoma, normal tension, susceptibility to;Optic atrophy plus syndrome;Behr syndrome	AD, AR
OPA3	606580	3-methylglutaconic aciduria, type III;Optic atrophy 3 with cataract	AR, AD
OPHN1	300127	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	XLR
OTC	300461	Ornithine transcarbamylase deficiency	XL
PANK2	606157	HARP syndrome;Neurodegeneration with brain iron accumulation 1	AR
PARS2	612036	Developmental and epileptic encephalopathy 75	AR
PAX6	607108	?Coloboma, ocular;Aniridia;?Morning glory disc anomaly;Keratitis;Optic nerve hypoplasia;?Coloboma of optic nerve;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy;Foveal hypoplasia 1	AD
PC	608786	Pyruvate carboxylase deficiency	AR
PCCA	232000	Propionicacidemia	AR
PCCB	232050	Propionicacidemia	AR
PDHA1	300502	Pyruvate dehydrogenase E1-alpha deficiency	XLD
PDHB	179060	Pyruvate dehydrogenase E1-beta deficiency	AR
PDHX	608769	Lacticacidemia due to PDX1 deficiency	AR
PDP1	605993	Pyruvate dehydrogenase phosphatase deficiency	AR
PDSS1	607429	Coenzyme Q10 deficiency, primary, 2	AR
PDSS2	610564	Coenzyme Q10 deficiency, primary, 3	AR
PDYN	131340	Spinocerebellar ataxia 23	AD
PET100	614770	MT complex IV deficiency, nuclear type 12	AR
PEX10	602859	Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B	AR
PEX2	170993	Peroxisome biogenesis disorder 5B;Peroxisome biogenesis disorder 5A (Zellweger)	AR
PEX7	601757	Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata, type 1	AR
PGAP1	611655	Mental retardation, autosomal recessive 42	AR
PHYH	602026	Refsum disease	AR
PIK3R5	611317	Ataxia-oculomotor apraxia 3	AR
PLA2G6	603604	Neurodegeneration with brain iron accumulation 2B;Parkinson disease 14, AR;Infantile neuroaxonal dystrophy 1	AR
PLK1	602098
PLP1	300401	Pelizaeus-Merzbacher disease;Spastic paraplegia 2, XL	XLR
PMPCA	613036	Spinocerebellar ataxia, autosomal recessive 2	AR
PNKD	609023	Paroxysmal nonkinesigenic dyskinesia 1	AD
PNKP	605610	Ataxia-oculomotor apraxia 4;Microcephaly, seizures, and developmental delay;?Charcot-Marie-Tooth disease, type 2B2	AR
PNPLA6	603197	Spastic paraplegia 39, AR;Boucher-Neuhauser syndrome;Oliver-McFarlane syndrome;?Laurence-Moon syndrome	AR
PNPT1	610316	Deafness, autosomal recessive 70;Combined oxidative phosphorylation deficiency 13	AR
POLG	174763	Progressive external ophthalmoplegia, autosomal recessive 1;Progressive external ophthalmoplegia, AD 1;MT recessive ataxia syndrome (includes SANDO and SCAE);MT DNA depletion syndrome 4B (MNGIE type);MT DNA depletion syndrome 4A (Alpers type)	AR, AD
POLG2	604983	MT DNA depletion syndrome 16 (hepatic type);?MT DNA depletion syndrome 16B (neuroophthalmic type);Progressive external ophthalmoplegia with MT DNA deletions, AD 4	AR, AD
POLR3A	614258	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Wiedemann-Rautenstrauch syndrome	AR
POLR3B	614366	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism;Charcot-Marie-Tooth disease, demyelinating, type 1I	AR, AD
PPP2R2B	604325	Spinocerebellar ataxia 12	AD
PRICKLE1	608500	Epilepsy, progressive myoclonic 1B	AR
PRKCG	176980	Spinocerebellar ataxia 14	AD
PRRT2	614386	Episodic kinesigenic dyskinesia 1;Convulsions, familial infantile, with paroxysmal choreoathetosis;Seizures, benign familial infantile, 2	AD
PUM1	607204	Spinocerebellar ataxia 47	AD
QARS1	603727	Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy	AR
RAB3GAP2	609275	Warburg micro syndrome 2;Martsolf syndrome	AR
RAP1GDS1	179502
RARS1	107820	Leukodystrophy, hypomyelinating, 9	AR
RARS2	611524	Pontocerebellar hypoplasia, type 6	AR
REEP1	609139	Spastic paraplegia 31, AD;?Neuronopathy, distal hereditary motor, type VB	AD
REEP2	609347	?Spastic paraplegia 72, AR;?Spastic paraplegia 72, AD	AD, AR
RMND1	614917	Combined oxidative phosphorylation deficiency 11	AR
RNASEH1	604123	Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 2	AR
RNASEH2B	610326	Aicardi-Goutieres syndrome 2	AR
RNF216	609948	Cerebellar ataxia and hypogonadotropic hypogonadism	AR
RPGRIP1L	610937	Joubert syndrome 7;?COACH syndrome 3;Meckel syndrome 5	AR
RRM2B	604712	MT DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy);Progressive external ophthalmoplegia with MT DNA deletions, AD 5;MT DNA depletion syndrome 8B (MNGIE type)	AR, AD
RTN2	603183	Spastic paraplegia 12, AD	AD
RUBCN	613516	Spinocerebellar ataxia, autosomal recessive 15	AR
SACS	604490	Spastic ataxia, Charlevoix-Saguenay type	AR
SAMD9L	611170	Ataxia-pancytopenia syndrome;Monosomy 7 myelodysplasia and leukemia syndrome 1	AD
SARS2	612804	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis	AR
SCN1A	182389	Epilepsy, generalized, with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3;Developmental and epileptic encephalopathy 6B, non-Dravet;Febrile seizures, familial, 3A;Dravet syndrome	AD
SCN2A	182390	Developmental and epileptic encephalopathy 11;Seizures, benign familial infantile, 3;Episodic ataxia, type 9	AD
SCO1	603644	MT complex IV deficiency, nuclear type 4	AR
SCO2	604272	Myopia 6;MT complex IV deficiency, nuclear type 2	AD, AR
SCYL1	607982	Spinocerebellar ataxia, autosomal recessive 21	AR
SDHA	600857	Neurodegeneration with ataxia and late-onset optic atrophy;Cardiomyopathy, dilated, 1GG;Leigh syndrome;MT respiratory chain complex II deficiency;Paragangliomas 5	AD, AR, AR, MT
SDHAF1	612848	MT complex II deficiency, nuclear type 2;MT complex II deficiency	AR
SELENOI	607915	Spastic paraplegia 81, AR	AR
SERAC1	614725	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	AR
SETX	608465	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;Amyotrophic lateral sclerosis 4, juvenile	AR, AD
SFXN4	615564	Combined oxidative phosphorylation deficiency 18	AR
SIL1	608005	Marinesco-Sjogren syndrome	AR
SLC16A2	300095	Allan-Herndon-Dudley syndrome	XL
SLC17A5	604322	Sialic acid storage disorder, infantile;Salla disease	AR
SLC19A2	603941	Thiamine-responsive megaloblastic anemia syndrome	AR
SLC19A3	606152	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)	AR
SLC1A3	600111	Episodic ataxia, type 6	AD
SLC1A4	600229	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	AR
SLC20A2	158378	Basal ganglia calcification, idiopathic, 1	AD
SLC22A5	603377	Carnitine deficiency, systemic primary	AR
SLC25A19	606521	Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type);Microcephaly, Amish type	AR
SLC25A26	611037	Combined oxidative phosphorylation deficiency 28	AR
SLC25A3	600370	MT phosphate carrier deficiency	AR
SLC25A38	610819	Anemia, sideroblastic, 2, pyridoxine-refractory	AR
SLC25A4	103220	MT DNA depletion syndrome 12B (cardiomyopathic type) AR;MT DNA depletion syndrome 12A (cardiomyopathic type) AD;Progressive external ophthalmoplegia with MT DNA deletions, AD 2	AR, AD
SLC25A46	610826	Neuropathy, hereditary motor and sensory, type VIB;Pontocerebellar hypoplasia, type 1E	AR
SLC2A1	138140	GLUT1 deficiency syndrome 2, childhood onset;GLUT1 deficiency syndrome 1, infantile onset, severe;Epilepsy, idiopathic generalized, susceptibility to, 12;Stomatin-deficient cryohydrocytosis with neurologic defects;Dystonia 9	AD, AD, AR
SLC33A1	603690	Congenital cataracts, hearing loss, and neurodegeneration;Spastic paraplegia 42, AD	AR, AD
SLC52A2	607882	Brown-Vialetto-Van Laere syndrome 2	AR
SLC52A3	613350	?Fazio-Londe disease;Brown-Vialetto-Van Laere syndrome 1	AR
SLC9A6	300231	Mental retardation, X-linked syndromic, Christianson type	XL
SNX14	616105	Spinocerebellar ataxia, autosomal recessive 20	AR
SPART	607111	Troyer syndrome	AR
SPAST	604277	Spastic paraplegia 4, AD	AD
SPG11	610844	Spastic paraplegia 11, AR;Amyotrophic lateral sclerosis 5, juvenile;Charcot-Marie-Tooth disease, axonal, type 2X	AR
SPG21	608181	Mast syndrome	AR
SPG7	602783	Spastic paraplegia 7, AR	AD, AR
SPR	182125	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	?AD, AR
SPTBN2	604985	Spinocerebellar ataxia, autosomal recessive 14;Spinocerebellar ataxia 5	AR, AD
STUB1	607207	?Spinocerebellar ataxia 48;Spinocerebellar ataxia, autosomal recessive 16	AD, AR
SUCLA2	603921	MT DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	AR
SUCLG1	611224	MT DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)	AR
SURF1	185620	Charcot-Marie-Tooth disease, type 4K;MT complex IV deficiency, nuclear type 1	AR
SYNE1	608441	Arthrogryposis multiplex congenita 3, myogenic type;Emery-Dreifuss muscular dystrophy 4, AD;Spinocerebellar ataxia, autosomal recessive 8	AR, AD
TACO1	612958	MT complex IV deficiency, nuclear type 8	AR
TARS2	612805	?Combined oxidative phosphorylation deficiency 21	AR
TBC1D24	613577	Deafness, AD 65;Deafness , autosomal recessive 86;Myoclonic epilepsy, infantile, familial;Developmental and epileptic encephalopathy 16;DOORS syndrome;Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp	AD, AR
TBP	600075	Spinocerebellar ataxia 17;Parkinson disease, susceptibility to	AD, AD, MF
TCTN1	609863	Joubert syndrome 13	AR
TCTN2	613846	?Meckel syndrome 8;Joubert syndrome 24	AR
TCTN3	613847	Joubert syndrome 18;Orofaciodigital syndrome IV	AR
TDP1	607198	?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	AR
TECPR2	615000	Spastic paraplegia 49, AR	AR
TFG	602498	Hereditary motor and sensory neuropathy, Okinawa type;?Spastic paraplegia 57, AR	AD, AR
TGM6	613900	Spinocerebellar ataxia 35	AD
TIMM8A	300356	Mohr-Tranebjaerg syndrome	XLR
TK2	188250	MT DNA depletion syndrome 2 (myopathic type);?Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 3	AR
TMEM126B	615533	MT complex I deficiency, nuclear type 29	AR
TMEM138	614459	Joubert syndrome 16	AR
TMEM216	613277	Meckel syndrome 2;Joubert syndrome 2	AR
TMEM231	614949	Joubert syndrome 20;Meckel syndrome 11	AR
TMEM237	614423	Joubert syndrome 14	AR
TMEM240	616101	Spinocerebellar ataxia 21	AD
TMEM67	609884	COACH syndrome 1;?RHYNS syndrome;Meckel syndrome 3;Joubert syndrome 6;Bardet-Biedl syndrome 14, modifier of;Nephronophthisis 11	AR
TMEM70	612418	MT complex V (ATP synthase) deficiency, nuclear type 2	AR
TPK1	606370	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	AR
TPP1	607998	Ceroid lipofuscinosis, neuronal, 2;Spinocerebellar ataxia, autosomal recessive 7	AR
TRIM32	602290	Muscular dystrophy, limb-girdle, autosomal recessive 8;?Bardet-Biedl syndrome 11	AR
TRIT1	617840	Combined oxidative phosphorylation deficiency 35	AR
TRMT10C	615423	Combined oxidative phosphorylation deficiency 30	AR
TRNT1	612907	Retinitis pigmentosa and erythrocytic microcytosis;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	AR
TSEN2	608753	Pontocerebellar hypoplasia type 2B	AR
TSEN34	608754	?Pontocerebellar hypoplasia type 2C	AR
TSEN54	608755	Pontocerebellar hypoplasia type 2A;?Pontocerebellar hypoplasia type 5;Pontocerebellar hypoplasia type 4	AR
TSFM	604723	Combined oxidative phosphorylation deficiency 3	AR
TTBK2	611695	Spinocerebellar ataxia 11	AD
TTC19	613814	MT complex III deficiency, nuclear type 2	AR
TTC8	608132	Bardet-Biedl syndrome 8;?Retinitis pigmentosa 51	AR
TTPA	600415	Ataxia with isolated vitamin E deficiency	AR
TTR	176300	[Dystransthyretinemic hyperthyroxinemia];Carpal tunnel syndrome, familial;Amyloidosis, hereditary, transthyretin-related	AD
TUBB4A	602662	Dystonia 4, torsion, AD;Leukodystrophy, hypomyelinating, 6	AD
TUFM	602389	Combined oxidative phosphorylation deficiency 4	AR
TWNK	606075	Progressive external ophthalmoplegia with MT DNA deletions, AD 3;Perrault syndrome 5;MT DNA depletion syndrome 7 (hepatocerebral type)	AD, AR
TYMP	131222	MT DNA depletion syndrome 1 (MNGIE type)	AR
UBA5	610552	Developmental and epileptic encephalopathy 44;?Spinocerebellar ataxia, autosomal recessive 24	AR
UBAP1	609787	Spastic paraplegia 80, AD	AD
UBE3A	601623	Angelman syndrome	AD
UBTF	600673	Neurodegeneration, childhood-onset, with brain atrophy	AD
UCHL1	191342	?Parkinson disease 5, susceptibility to;Spastic paraplegia 79, AR	AD, AR
UNC80	612636	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	AR
UQCC2	614461	MT complex III deficiency, nuclear type 7	AR
UQCRB	191330	MT complex III deficiency, nuclear type 3	AR
UQCRC2	191329	MT complex III deficiency, nuclear type 5	AR
UQCRQ	612080	MT complex III deficiency, nuclear type 4	AR
USP8	603158	Pituitary adenoma 4, ACTH-secreting, somatic
VAMP1	185880	Myasthenic syndrome, congenital, 25;Spastic ataxia 1, AD	AR, AD
VARS2	612802	Combined oxidative phosphorylation deficiency 20	AR
VCP	601023	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1;Charcot-Marie-Tooth disease, type 2Y;Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	AD
VLDLR	192977	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1	AR
VPS37A	609927	Spastic paraplegia 53, AR	AR
VRK1	602168	Pontocerebellar hypoplasia type 1A	AR
WASHC5	610657	Spastic paraplegia 8, AD;Ritscher-Schinzel syndrome 1	AD, AR
WDR45	300526	Neurodegeneration with brain iron accumulation 5	XLD
WDR45B	609226	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	AR
WDR81	614218	Hydrocephalus, congenital, 3, with brain anomalies;Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	AR
WFS1	606201	?Cataract 41;Wolfram-like syndrome, AD;Wolfram syndrome 1;Diabetes mellitus, noninsulin-dependent, association with;Deafness, AD 6/14/38	AD, AR
WWOX	605131	Esophageal squamous cell carcinoma, somatic;Developmental and epileptic encephalopathy 28;Spinocerebellar ataxia, autosomal recessive 12	AR
YARS2	610957	Myopathy, lactic acidosis, and sideroblastic anemia 2	AR
ZFYVE26	612012	Spastic paraplegia 15, AR	AR
ZFYVE27	610243	Spastic paraplegia 33, AD	AD
ZNF423	604557	Joubert syndrome 19;Nephronophthisis 14	AD, AR

Ataxia Repeat Expansion Panel

No. of genes:	13
TAT:	25 days
Coverage:	100%
Details:	Includes repeat expansion analysis for ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, CACNA1A, FXN, NOP56, PP2R2B, TBP

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
ATN1	607462	Dentatorubral-pallidoluysian atrophy;Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	AD
ATXN1	601556	Spinocerebellar ataxia 1	AD
ATXN10	611150	Spinocerebellar ataxia 10	AD
ATXN2	601517	Spinocerebellar ataxia 2;Parkinson disease, late-onset, susceptibility to;Amyotrophic lateral sclerosis, susceptibility to, 13	AD, AD, MF
ATXN3	607047	Machado-Joseph disease	AD
ATXN7	607640	Spinocerebellar ataxia 7	AD
ATXN8OS	603680	Parkinson disease, susceptibility to;Spinocerebellar ataxia 8	AD, MF, AD
BEAN1	612051	Spinocerebellar ataxia 31	AD
CACNA1A	601011	Episodic ataxia, type 2;Migraine, familial hemiplegic, 1;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia;Spinocerebellar ataxia 6;Developemental and epileptic encephalopathy 42	AD
FXN	606829	Friedreich ataxia;Friedreich ataxia with retained reflexes	AR
NOP56	614154	Spinocerebellar ataxia 36	AD
PPP2R2B	604325	Spinocerebellar ataxia 12	AD
TBP	600075	Spinocerebellar ataxia 17;Parkinson disease, susceptibility to	AD, AD, MF

COMMON SYNDROMES AND DISORDERS COVERED

Cerebellar ataxia
Episodic ataxia
Pontocerebellar hypoplasia
Spinocerebellar ataxia

CentoICU^®

CentoICU^® is a comprehensive NGS panel that includes genes explicitly selected for the genetic testing of critically ill newborns and children under 24 months in intensive care units (ICU). It is designed to address multiple genetic conditions that may be present in the newborn or early childhood period, with many having overlapping phenotypes and immediate implications for treatment initiation. It allows clinicians to utilize just one single test to provide an accurate diagnosis of newborn-related diseases using dried blood spots.

No. of genes:	855
TAT:	15 days / 10 days (fast option)
Coverage:	≥99.0% ≥20x
Details:	Only next-generation sequencing. CNV analysis not available.

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
AARS1	601065	Trichothiodystrophy 8, nonphotosensitive;Charcot-Marie-Tooth disease, axonal, type 2N;Developmental and epileptic encephalopathy 29;?Leukoencephalopathy, hereditary diffuse, with spheroids 2	AR, AD
AARS2	612035	Combined oxidative phosphorylation deficiency 8;Leukoencephalopathy, progressive, with ovarian failure	AR
AASS	605113	Hyperlysinemia	AR
ABAT	137150	GABA-transaminase deficiency	AR
ABCA12	607800	Ichthyosis, congenital, autosomal recessive 4A;Ichthyosis, congenital, autosomal recessive 4B (harlequin)	AR
ABCA3	601615	Surfactant metabolism dysfunction, pulmonary, 3	AR
ABCB11	603201	Cholestasis, benign recurrent intrahepatic, 2;Cholestasis, progressive familial intrahepatic 2	AR
ABCC8	600509	Diabetes mellitus, transient neonatal 2;Diabetes mellitus, noninsulin-dependent;Hyperinsulinemic hypoglycemia, familial, 1;Hypoglycemia of infancy, leucine-sensitive;Diabetes mellitus, permanent neonatal 3, with or without neurologic features	AD, AD, AR
ABCD1	300371	Adrenoleukodystrophy;Adrenomyeloneuropathy, adult	XLR
ABCD3	170995	?Bile acid synthesis defect, congenital, 5	AR
ABCD4	603214	Methylmalonic aciduria and homocystinuria, cblJ type	AR
ACAD8	604773	Isobutyryl-CoA dehydrogenase deficiency	AR
ACAD9	611103	MT complex I deficiency, nuclear type 20	AR
ACADM	607008	Acyl-CoA dehydrogenase, medium chain, deficiency of	AR
ACADS	606885	Acyl-CoA dehydrogenase, short-chain, deficiency of	AR
ACADSB	600301	2-methylbutyrylglycinuria	AR
ACADVL	609575	VLCAD deficiency	AR
ACAT1	607809	Alpha-methylacetoacetic aciduria	AR
ACO2	100850	?Optic atrophy 9;Infantile cerebellar-retinal degeneration	AR
ACOX1	609751	Peroxisomal acyl-CoA oxidase deficiency;Mitchell syndrome	AR, AD
ACSF3	614245	Combined malonic and methylmalonic aciduria
ACTA1	102610	Nemaline myopathy 3, AD or recessive;?Myopathy, scapulohumeroperoneal;Myopathy, congenital, with fiber-type disproportion 1;Myopathy, actin, congenital, with cores;Myopathy, actin, congenital, with excess of thin myofilaments	AD, AR, AD
ACY1	104620	Aminoacylase 1 deficiency	AR
ADA	608958	Adenosine deaminase deficiency, partial;Severe combined immunodeficiency due to ADA deficiency	AR, SM
ADAMTS13	604134	Thrombotic thrombocytopenic purpura, hereditary	AR
ADAMTSL2	612277	Geleophysic dysplasia 1	AR
ADAR	146920	Aicardi-Goutieres syndrome 6;Dyschromatosis symmetrica hereditaria	AR, AD
ADK	102750	Hypermethioninemia due to adenosine kinase deficiency	AR
ADNP	611386	Helsmoortel-van der Aa syndrome	AD
ADSL	608222	Adenylosuccinase deficiency	AR
AGA	613228	Aspartylglucosaminuria	AR
AGK	610345	Sengers syndrome;Cataract 38, AR	AR
AGL	610860	Glycogen storage disease IIIb;Glycogen storage disease IIIa	AR
AGPAT2	603100	Lipodystrophy, congenital generalized, type 1	AR
AGPS	603051	Rhizomelic chondrodysplasia punctata, type 3	AR
AGRN	103320	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects	AR
AGXT	604285	Hyperoxaluria, primary, type 1	AR
AHCY	180960	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	AR
AICDA	605257	Immunodeficiency with hyper-IgM, type 2	AR
AIFM1	300169	Cowchock syndrome;Combined oxidative phosphorylation deficiency 6;Deafness, X-linked 5;Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy	XLR
AIMP1	603605	Leukodystrophy, hypomyelinating, 3	AR
AKAP9	604001	?Long QT syndrome 11	AD
AKR1D1	604741	Bile acid synthesis defect, congenital, 2	AR
AKT2	164731	Diabetes mellitus, type II;Hypoinsulinemic hypoglycemia with hemihypertrophy	AD
ALAD	125270	Porphyria, acute hepatic;Lead poisoning, susceptibility to	AR
ALAS2	301300	Protoporphyria, erythropoietic, X-linked;Anemia, sideroblastic, 1	XL, XLR
ALDH18A1	138250	Cutis laxa, AD 3;Cutis laxa, autosomal recessive, type IIIA;Spastic paraplegia 9B, AR;Spastic paraplegia 9A, AD	AD, AR
ALDH3A2	609523	Sjogren-Larsson syndrome	AR
ALDH4A1	606811	Hyperprolinemia, type II	AR
ALDH5A1	610045	Succinic semialdehyde dehydrogenase deficiency	AR
ALDH6A1	603178	Methylmalonate semialdehyde dehydrogenase deficiency	AR
ALDH7A1	107323	Epilepsy, pyridoxine-dependent	AR
ALDOA	103850	Glycogen storage disease XII	AR
ALDOB	612724	Fructose intolerance, hereditary	AR
ALG1	605907	Congenital disorder of glycosylation, type Ik	AR
ALG11	613666	Congenital disorder of glycosylation, type Ip	AR
ALG12	607144	Congenital disorder of glycosylation, type Ig	AR
ALG13	300776	?Congenital disorder of glycosylation, type Is;Developmental and epileptic encephalopathy 36	XL
ALG14	612866	Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies;?Myasthenic syndrome, congenital, 15, without tubular aggregates;Myopathy, epilepsy, and progressive cerebral atrophy	AR
ALG2	607905	?Congenital disorder of glycosylation, type Ii;Myasthenic syndrome, congenital, 14, with tubular aggregates	AR
ALG3	608750	Congenital disorder of glycosylation, type Id	AR
ALG6	604566	Congenital disorder of glycosylation, type Ic	AR
ALG8	608103	Polycystic liver disease 3 with or without kidney cysts;Congenital disorder of glycosylation, type Ih	AD, AR
ALG9	606941	Congenital disorder of glycosylation, type Il;Gillessen-Kaesbach-Nishimura syndrome	AR
ALOX12B	603741	Ichthyosis, congenital, autosomal recessive 2	AR
ALOXE3	607206	Ichthyosis, congenital, autosomal recessive 3	AR
ALPL	171760	Hypophosphatasia, infantile;Odontohypophosphatasia;Hypophosphatasia, childhood;Hypophosphatasia, adult	AR, AD, AR
ALS2	606352	Amyotrophic lateral sclerosis 2, juvenile;Spastic paralysis, infantile onset ascending;Primary lateral sclerosis, juvenile	AR
AMACR	604489	Bile acid synthesis defect, congenital, 4;Alpha-methylacyl-CoA racemase deficiency	AR
AMN	605799	Imerslund-Grasbeck syndrome 2	AR
AMPD1	102770	Myopathy due to myoadenylate deaminase deficiency	AR
AMT	238310	Glycine encephalopathy	AR
ANK1	612641	Spherocytosis, type 1	AD, AR
ANKRD26	610855	Thrombocytopenia 2	AD
ANKS6	615370	Nephronophthisis 16	AR
ANTXR1	606410	?Hemangioma, capillary infantile, susceptibility to;GAPO syndrome	AD, AR
ANTXR2	608041	Hyaline fibromatosis syndrome	AR
AP2S1	602242	Hypocalciuric hypercalcemia, type III	AD
AP4B1	607245	Spastic paraplegia 47, AR	AR
AP4E1	607244	Stuttering, familial persistent, 1;Spastic paraplegia 51, AR	AD, AR
AP4M1	602296	Spastic paraplegia 50, AR	AR
AP4S1	607243	Spastic paraplegia 52, AR	AR
APOB	107730	Hypobetalipoproteinemia;Hypercholesterolemia, familial, 2	AR, AD
APTX	606350	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	AR
ARG1	608313	Argininemia	AR
ARL6	608845	Retinitis pigmentosa 55;Bardet-Biedl syndrome 1, modifier of;Bardet-Biedl syndrome 3	AR, AR, DR
ARSA	607574	Metachromatic leukodystrophy	AR
ARSB	611542	Mucopolysaccharidosis type VI (Maroteaux-Lamy)	AR
ARX	300382	Developmental and epileptic encephalopathy 1;Mental retardation, X-linked 29 and others;Hydranencephaly with abnormal genitalia;Partington syndrome;Lissencephaly, X-linked 2;Proud syndrome	XLR, XL
ASAH1	613468	Spinal muscular atrophy with progressive myoclonic epilepsy;Farber lipogranulomatosis	AR
ASL	608310	Argininosuccinic aciduria	AR
ASNS	108370	Asparagine synthetase deficiency	AR
ASPA	608034	Canavan disease	AR
ASPM	605481	Microcephaly 5, primary, AR	AR
ASS1	603470	Citrullinemia	AR
ATIC	601731	AICA-ribosiduria due to ATIC deficiency	AR
ATP1A3	182350	Alternating hemiplegia of childhood 2;Dystonia-12;Developmental and epileptic encephalopathy 99;CAPOS syndrome	AD
ATP6V0A2	611716	Cutis laxa, autosomal recessive, type IIA;Wrinkly skin syndrome	AR
ATP6V1B1	192132	Distal renal tubular acidosis 2 with progressive sensorineural hearing loss	AR
ATP7A	300011	Menkes disease;Occipital horn syndrome;Spinal muscular atrophy, distal, X-linked 3	XLR
ATP7B	606882	Wilson disease	AR
ATP8B1	602397	Cholestasis, progressive familial intrahepatic 1;Cholestasis, intrahepatic, of pregnancy, 1;Cholestasis, benign recurrent intrahepatic	AR, AD
ATPAF2	608918	?MT complex V (ATP synthase) deficiency, nuclear type 1	AR
ATR	601215	?Cutaneous telangiectasia and cancer syndrome, familial;Seckel syndrome 1	AD, AR
ATRX	300032	Mental retardation-hypotonic facies syndrome, X-linked;Alpha-thalassemia/mental retardation syndrome;Alpha-thalassemia myelodysplasia syndrome, somatic	XLR, XLD
AUH	600529	3-methylglutaconic aciduria, type I	AR
B3GLCT	610308	Peters-plus syndrome	AR
B4GALT1	137060	Congenital disorder of glycosylation, type IId	AR
BCAP31	300398	Deafness, dystonia, and cerebral hypomyelination	XLR
BCKDHA	608348	Maple syrup urine disease, type Ia	AR
BCKDHB	248611	Maple syrup urine disease, type Ib	AR
BCKDK	614901	Branched-chain ketoacid dehydrogenase kinase deficiency
BCS1L	603647	GRACILE syndrome;Bjornstad syndrome;MT complex III deficiency, nuclear type 1	AR
BICD2	609797	Spinal muscular atrophy, lower extremity-predominant, 2A, AD;Spinal muscular atrophy, lower extremity-predominant, 2B, AD	AD
BIN1	601248	Centronuclear myopathy 2	AR
BLNK	604515	?Agammaglobulinemia 4	AR
BOLA3	613183	Multiple MT dysfunctions syndrome 2 with hyperglycinemia	AR
BRAF	164757	Cardiofaciocutaneous syndrome;Adenocarcinoma of lung, somatic;Noonan syndrome 7;Colorectal cancer, somatic;Melanoma, malignant, somatic,;LEOPARD syndrome 3	AD
BRAT1	614506	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures;Rigidity and multifocal seizure syndrome, lethal neonatal	AR
BRCA2	600185	Prostate cancer;Breast-ovarian cancer, familial, 2;Glioblastoma 3;Wilms tumor;Pancreatic cancer 2;Breast cancer, male, susceptibility to;Fanconi anemia, complementation group D1;Medulloblastoma	AD, SM, AD, AR, AD, AR, SM
BSCL2	606158	Lipodystrophy, congenital generalized, type 2;Encephalopathy, progressive, with or without lipodystrophy;Silver spastic paraplegia syndrome;Neuropathy, distal hereditary motor, type VC	AR, AD
BSND	606412	Bartter syndrome, type 4a;Sensorineural deafness with mild renal dysfunction	AR
BTD	609019	Biotinidase deficiency	AR
BTK	300300	Agammaglobulinemia, X-linked 1;Isolated growth hormone deficiency, type III, with agammaglobulinemia	XLR
CA12	603263	Hyperchlorhidrosis, isolated	AR
CACNA1C	114205	Long QT syndrome 8;Brugada syndrome 3;Timothy syndrome	AD
CACNB2	600003	Brugada syndrome 4
CALM1	114180	Long QT syndrome 14;Ventricular tachycardia, catecholaminergic polymorphic, 4	AD
CAMTA1	611501	Cerebellar ataxia, nonprogressive, with mental retardation	AD
CASK	300172	Mental retardation, with or without nystagmus;Mental retardation and microcephaly with pontine and cerebellar hypoplasia;FG syndrome 4	XLD
CASR	601199	Epilepsy idiopathic generalized, susceptibility to, 8;Hypocalcemia, AD, with Bartter syndrome;Hypocalciuric hypercalcemia, type I;Hyperparathyroidism, neonatal;Hypocalcemia, AD	AD, AD, AR
CAST	114090	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	AR
CAV1	601047	Pulmonary hypertension, primary, 3;Lipodystrophy, familial partial, type 7;?Lipodystrophy, congenital generalized, type 3	AD, AR
CAV3	601253	Rippling muscle disease 2;Cardiomyopathy, familial hypertrophic;Creatine phosphokinase, elevated serum;Long QT syndrome 9;Myopathy, distal, Tateyama type	AD, AD, DD
CAVIN1	603198	Lipodystrophy, congenital generalized, type 4	AR
CBS	613381	Thrombosis, hyperhomocysteinemic;Homocystinuria, B6-responsive and nonresponsive types	AR
CCDC103	614677	Ciliary dyskinesia, primary, 17	AR
CCDC78	614666	?Centronuclear myopathy 4	AD
CD19	107265	Immunodeficiency, common variable, 3	AR
CD247	186780	?Immunodeficiency 25	AR
CD320	606475	Methylmalonic aciduria, transient, due to transcobalamin receptor defect
CD3D	186790	Immunodeficiency 19	AR
CD3E	186830	Immunodeficiency 18, SCID variant;Immunodeficiency 18	AR
CD3G	186740	Immunodeficiency 17, CD3 gamma deficient	AR
CD40	109535	Immunodeficiency with hyper-IgM, type 3	AR
CD40LG	300386	Immunodeficiency, X-linked, with hyper-IgM	XLR
CD59	107271	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy	AR
CD79A	112205	Agammaglobulinemia 3	AR
CD79B	147245	Agammaglobulinemia 6	AR
CD81	186845	Immunodeficiency, common variable, 6	AR
CD96	606037	C syndrome	AD
CDAN1	607465	Dyserythropoietic anemia, congenital, type Ia	AR
CDCA8	609977
CDK5RAP2	608201	Microcephaly 3, primary, AR	AR
CDKL5	300203	Developmental and epileptic encephalopathy 2	XLD
CDKN1C	600856	IMAGE syndrome;Beckwith-Wiedemann syndrome	AD
CENPJ	609279	?Seckel syndrome 4;Microcephaly 6, primary, AR	AR
CEP152	613529	Microcephaly 9, primary, AR;Seckel syndrome 5	AR
CEP290	610142	Leber congenital amaurosis 10;Meckel syndrome 4;?Bardet-Biedl syndrome 14;Senior-Loken syndrome 6;Joubert syndrome 5	AR
CERS3	615276	Ichthyosis, congenital, autosomal recessive 9	AR
CFAP298	615494	Ciliary dyskinesia, primary, 26	AR
CFH	134370	Basal laminar drusen;Macular degeneration, age-related, 4;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Complement factor H deficiency	AD, AD, AR
CFHR3	605336	Macular degeneration, age-related, reduced risk of;Hemolytic uremic syndrome, atypical, susceptibility to	AD, AD, AR
CFL2	601443	Nemaline myopathy 7, AR	AR
CFTR	602421	Congenital bilateral absence of vas deferens;Pancreatitis, hereditary;Bronchiectasis with or without elevated sweat chloride 1, modifier of;Cystic fibrosis	AR, AD
CHAT	118490	Myasthenic syndrome, congenital, 6, presynaptic	AR
CHD7	608892	CHARGE syndrome;Hypogonadotropic hypogonadism 5 with or without anosmia	AD
CHKB	612395	Muscular dystrophy, congenital, megaconial type	AR
CHM	300390	Choroideremia	XL
CHRNA1	100690	Myasthenic syndrome, congenital, 1B, fast-channel;Myasthenic syndrome, congenital, 1A, slow-channel;Multiple pterygium syndrome, lethal type	AD, AR, AD, AR
CHRNB1	100710	Myasthenic syndrome, congenital, 2A, slow-channel;?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency	AD, AR
CHRND	100720	?Myasthenic syndrome, congenital, 3A, slow-channel;Myasthenic syndrome, congenital, 3B, fast-channel;Multiple pterygium syndrome, lethal type;?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency	AD, AR
CHRNE	100725	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency;Myasthenic syndrome, congenital, 4A, slow-channel;Myasthenic syndrome, congenital, 4B, fast-channel	AR, AD, AR
CLCN1	118425	Myotonia congenita, dominant;Myotonia congenita, recessive	AD, AR
CLCNKA	602024	Bartter syndrome, type 4b, digenic	DR
CLCNKB	602023	Bartter syndrome, type 3;Bartter syndrome, type 4b, digenic	AR, DR
CLDN16	603959	Hypomagnesemia 3, renal	AR
CLN3	607042	Ceroid lipofuscinosis, neuronal, 3	AR
CLN5	608102	Ceroid lipofuscinosis, neuronal, 5	AR
CLN6	606725	Ceroid lipofuscinosis, neuronal, Kufs type, adult onset;Ceroid lipofuscinosis, neuronal, 6	AR
CLN8	607837	Ceroid lipofuscinosis, neuronal, 8;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant	AR
CLPB	616254	3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia	AR
CNTN1	600016	?Myopathy, congenital, Compton-North	AR
COA5	613920	?MT complex IV, deficiency, nuclear type 9	AR
COG1	606973	Congenital disorder of glycosylation, type IIg	AR
COG6	606977	Shaheen syndrome;Congenital disorder of glycosylation, type IIl	AR
COG7	606978	Congenital disorder of glycosylation, type IIe	AR
COL11A1	120280	Marshall syndrome;Fibrochondrogenesis 1;Lumbar disc herniation, susceptibility to;?Deafness, AD 37;Stickler syndrome, type II	AD, AR
COL17A1	113811	Epithelial recurrent erosion dystrophy;Epidermolysis bullosa, junctional, localisata variant;Epidermolysis bullosa, junctional, non-Herlitz type	AD, AR
COL1A1	120150	Ehlers-Danlos syndrome, arthrochalasia type, 1;Bone mineral density variation QTL, osteoporosis;Osteogenesis imperfecta, type III;Osteogenesis imperfecta, type I;Caffey disease;Osteogenesis imperfecta, type IV;Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1;Osteogenesis imperfecta, type II	AD
COL1A2	120160	Osteoporosis, postmenopausal;Ehlers-Danlos syndrome, cardiac valvular type;Ehlers-Danlos syndrome, arthrochalasia type, 2;Osteogenesis imperfecta, type III;Osteogenesis imperfecta, type IV;Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2;Osteogenesis imperfecta, type II	AD, AR
COL2A1	120140	Legg-Calve-Perthes disease;Stickler syndrome, type I;Osteoarthritis with mild chondrodysplasia;Platyspondylic skeletal dysplasia, Torrance type;Spondyloepiphyseal dysplasia, Stanescu type;Kniest dysplasia;Czech dysplasia;Stickler sydrome, type I, nonsyndromic ocular;?Vitreoretinopathy with phalangeal epiphyseal dysplasia;?Epiphyseal dysplasia, multiple, with myopia and deafness;Avascular necrosis of the femoral head;Spondyloperipheral dysplasia;Achondrogenesis, type II or hypochondrogenesis;SMED Strudwick type;SED congenita	AD
COL3A1	120180	Ehlers-Danlos syndrome, vascular type;Polymicrogyria with or without vascular-type EDS	AD, AR
COL5A2	120190	Ehlers-Danlos syndrome, classic type, 2	AD
COL6A1	120220	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1	AD, AR
COL6A2	120240	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;?Myosclerosis, congenital	AD, AR, AR
COL6A3	120250	Dystonia 27;Ullrich congenital muscular dystrophy 1;Bethlem myopathy 1	AR, AD, AR
COL7A1	120120	Epidermolysis bullosa dystrophica, AR;Epidermolysis bullosa dystrophica, AD;Epidermolysis bullosa pruriginosa;Transient bullous of the newborn;Epidermolysis bullosa, pretibial;Toenail dystrophy, isolated;EBD, Bart type;EBD inversa	AR, AD, AD, AR
COLQ	603033	Myasthenic syndrome, congenital, 5	AR
COMP	600310	Carpal tunnel syndrome 2;Epiphyseal dysplasia, multiple, 1;Pseudoachondroplasia	AD
COQ2	609825	Coenzyme Q10 deficiency, primary, 1;Multiple system atrophy, susceptibility to	AR, AD, AR
COQ8A	606980	Coenzyme Q10 deficiency, primary, 4	AR
COQ9	612837	Coenzyme Q10 deficiency, primary, 5	AR
CORO1A	605000	Immunodeficiency 8	AR
COX10	602125	MT complex IV deficiency, nuclear type 3	AR
COX15	603646	MT complex IV deficiency, nuclear type 6	AR
COX20	614698	MT complex IV deficiency, nuclear type 11	AR
COX6B1	124089	MT complex IV deficiency, nuclear type 7	AR
CPS1	608307	Carbamoylphosphate synthetase I deficiency;Pulmonary hypertension, neonatal, susceptibility to	AR
CPT1A	600528	CPT deficiency, hepatic, type IA	AR
CPT2	600650	CPT II deficiency, myopathic, stress-induced;CPT II deficiency, infantile;Encephalopathy, acute, infection-induced, 4, susceptibility to;CPT II deficiency, lethal neonatal	AD, AR, AR
CR2	120650	Immunodeficiency, common variable, 7;Systemic lupus erythematosus, susceptibility to, 9	AR
CRPPA	614631	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	AR
CRTAP	605497	Osteogenesis imperfecta, type VII	AR
CTNS	606272	Cystinosis, late-onset juvenile or adolescent nephropathic;Cystinosis, ocular nonnephropathic;Cystinosis, nephropathic;Cystinosis, atypical nephropathic	AR
CTPS1	123860	Immunodeficiency 24	AR
CTSA	613111	Galactosialidosis	AR
CTSD	116840	Ceroid lipofuscinosis, neuronal, 10	AR
CUL4B	300304	Mental retardation, X-linked, syndromic 15 (Cabezas type)	XLR
CXCR4	162643	WHIM syndrome	AD
CYP11B1	610613	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency;Aldosteronism, glucocorticoid-remediable	AR, AD
CYP11B2	124080	Hypoaldosteronism, congenital, due to CMO II deficiency;Hypoaldosteronism, congenital, due to CMO I deficiency	AR
CYP17A1	609300	17,20-lyase deficiency, isolated;17-alpha-hydroxylase/17,20-lyase deficiency	AR
CYP4F22	611495	Ichthyosis, congenital, autosomal recessive 5	AR
CYP7B1	603711	Spastic paraplegia 5A, AR;Bile acid synthesis defect, congenital, 3	AR
D2HGDH	609186	D-2-hydroxyglutaric aciduria	AR
DBT	248610	Maple syrup urine disease, type II	AR
DCLRE1C	605988	Omenn syndrome;Severe combined immunodeficiency, Athabascan type	AR
DDC	107930	Aromatic L-amino acid decarboxylase deficiency	AR
DDOST	602202	?Congenital disorder of glycosylation, type Ir	AR
DDR2	191311	Spondylometaepiphyseal dysplasia, short limb-hand type;Warburg-Cinotti syndrome	AR, AD
DEPDC5	614191	Epilepsy, familial focal, with variable foci 1	AD
DES	125660	Cardiomyopathy, dilated, 1I;Myopathy, myofibrillar, 1;Scapuloperoneal syndrome, neurogenic, Kaeser type	AD, AD, AR
DGUOK	601465	Portal hypertension, noncirrhotic;Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 4;MT DNA depletion syndrome 3 (hepatocerebral type)	AR
DHCR24	606418	Desmosterolosis	AR
DHCR7	602858	Smith-Lemli-Opitz syndrome	AR
DIAPH1	602121	Seizures, cortical blindness, microcephaly syndrome;Deafness, AD 1, with or without thrombocytopenia	AR, AD
DLAT	608770	Pyruvate dehydrogenase E2 deficiency	AR
DLD	238331	Dihydrolipoamide dehydrogenase deficiency	AR
DMD	300377	Cardiomyopathy, dilated, 3B;Duchenne muscular dystrophy;Becker muscular dystrophy	XL, XLR
DNA2	601810	?Seckel syndrome 8;Progressive external ophthalmoplegia with MT DNA deletions, AD 6	AR, AD
DNAH11	603339	Ciliary dyskinesia, primary, 7, with or without situs inversus	AR
DNAH5	603335	Ciliary dyskinesia, primary, 3, with or without situs inversus	AR
DNAI1	604366	Ciliary dyskinesia, primary, 1, with or without situs inversus	AR
DNAI2	605483	Ciliary dyskinesia, primary, 9, with or without situs inversus	AR
DNAJC19	608977	3-methylglutaconic aciduria, type V	AR
DNM2	602378	Lethal congenital contracture syndrome 5;Charcot-Marie-Tooth disease, axonal type 2M;Charcot-Marie-Tooth disease, dominant intermediate B;Centronuclear myopathy 1	AR, AD
DOCK7	615730	Developmental and epileptic encephalopathy 23	AR
DOCK8	611432	Hyper-IgE recurrent infection syndrome, AR	AR
DOK7	610285	Fetal akinesia deformation sequence 3;Myasthenic syndrome, congenital, 10	AR
DOLK	610746	Congenital disorder of glycosylation, type Im	AR
DPAGT1	191350	Myasthenic syndrome, congenital, 13, with tubular aggregates;Congenital disorder of glycosylation, type Ij	AR
DPM2	603564	Congenital disorder of glycosylation, type Iu	AR
DPYD	612779	5-fluorouracil toxicity;Dihydropyrimidine dehydrogenase deficiency	AR
DRC1	615288	Ciliary dyskinesia, primary, 21	AR
DSP	125647	Cardiomyopathy, dilated, with woolly hair and keratoderma;Arrhythmogenic right ventricular dysplasia 8;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome;Epidermolysis bullosa, lethal acantholytic;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis	AR, AD
DST	113810	?Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2	AR
DUOX2	606759	Thyroid dyshormonogenesis 6	AR
DUOXA2	612772	Thyroid dyshormonogenesis 5	AR
DYSF	603009	Muscular dystrophy, limb-girdle, autosomal recessive 2;Myopathy, distal, with anterior tibial onset;Miyoshi muscular dystrophy 1	AR
EDN3	131242	Waardenburg syndrome, type 4B;Hirschsprung disease, susceptibility to, 4;Central hypoventilation syndrome, congenital	AD, AR, AD
EEF1A2	602959	Mental retardation, AD 38;Developmental and epileptic encephalopathy 33	AD
EGR2	129010	Dejerine-Sottas disease;Hypomyelinating neuropathy, congenital, 1;Charcot-Marie-Tooth disease, type 1D	AD, AR, AD
EIF2AK3	604032	Wolcott-Rallison syndrome	AR
EIF2B1	606686	Leukoencephalopathy with vanishing white matter	AR
EIF2B2	606454	Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter	AR
EIF2B3	606273	Leukoencephalopathy with vanishing white matter	AR
EIF2B4	606687	Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter	AR
EIF2B5	603945	Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter	AR
ELAC2	605367	Prostate cancer, hereditary, 2, susceptibility to;Combined oxidative phosphorylation deficiency 17	AR
ELANE	130130	Neutropenia, cyclic;Neutropenia, severe congenital 1, AD	AD
ENPP1	173335	Arterial calcification, generalized, of infancy, 1;Obesity, susceptibility to;Hypophosphatemic rickets, autosomal recessive, 2;Cole disease;Diabetes mellitus, non-insulin-dependent, susceptibility to	AR, AD, AR, MF, AD
EPB42	177070	Spherocytosis, type 5
EPCAM	185535	Colorectal cancer, hereditary nonpolyposis, type 8;Diarrhea 5, with tufting enteropathy, congenital	AR
ETFA	608053	Glutaric acidemia IIA	AR
ETFB	130410	Glutaric acidemia IIB	AR
ETFDH	231675	Glutaric acidemia IIC	AR
ETHE1	608451	Ethylmalonic encephalopathy	AR
EVC	604831	Ellis-van Creveld syndrome;?Weyers acrofacial dysostosis	AR, AD
EVC2	607261	Ellis-van Creveld syndrome;Weyers acrofacial dysostosis	AR, AD
EXOSC3	606489	Pontocerebellar hypoplasia, type 1B	AR
EYA1	601653	Anterior segment anomalies with or without cataract;Branchiootorenal syndrome 1, with or without cataracts;?Otofaciocervical syndrome;Branchiootic syndrome 1	AD
EYA4	603550	Deafness, AD 10;?Cardiomyopathy, dilated, 1J	AD
F10	613872	Factor X deficiency	AR
F11	264900	Factor XI deficiency, AD;Factor XI deficiency, AR
F13A1	134570	Factor XIIIA deficiency;Venous thrombosis, protection against;Myocardial infarction, protection against	AR, AD
F2	176930	Dysprothrombinemia;Stroke, ischemic, susceptibility to;Pregnancy loss, recurrent, susceptibility to, 2;Hypoprothrombinemia;Thrombophilia due to thrombin defect	AR, MF, AD
F5	612309	Pregnancy loss, recurrent, susceptibility to, 1;Factor V deficiency;Stroke, ischemic, susceptibility to;Budd-Chiari syndrome;Thrombophilia, susceptibility to, due to factor V Leiden;Thrombophilia due to activated protein C resistance	AD, AR, MF
F7	613878	Myocardial infarction, decreased susceptibility to;Factor VII deficiency	AR
F8	300841	Thrombophilia 13, X-linked, due to factor VIII defect;Hemophilia A	XLR
F9	300746	Warfarin sensitivity;Thrombophilia, X-linked, due to factor IX defect;Hemophilia B;Deep venous thrombosis, protection against	XL, XLR
FADD	602457	Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations	AR
FAH	613871	Tyrosinemia, type I	AR
FANCA	607139	Fanconi anemia, complementation group A	AR
FANCB	300515	Fanconi anemia, complementation group B	XLR
FANCC	613899	Fanconi anemia, complementation group C	AR
FANCD2	613984	Fanconi anemia, complementation group D2	AR
FANCL	608111	Fanconi anemia, complementation group L	AR
FARS2	611592	Combined oxidative phosphorylation deficiency 14;Spastic paraplegia 77, AR	AR
FASTKD2	612322	Combined oxidative phosphorylation deficiency 44	AR
FBN1	134797	Marfan lipodystrophy syndrome;Geleophysic dysplasia 2;Acromicric dysplasia;Marfan syndrome;Weill-Marchesani syndrome 2, dominant;Stiff skin syndrome;MASS syndrome;Ectopia lentis, familial	AD
FBP1	611570	Fructose-1,6-bisphosphatase deficiency	AR
FBXL4	605654	MT DNA depletion syndrome 13 (encephalomyopathic type)	AR
FGA	134820	Hypodysfibrinogenemia, congenital;Afibrinogenemia, congenital;Amyloidosis, familial visceral;Dysfibrinogenemia, congenital	AR, AD
FGB	134830	Afibrinogenemia, congenital;Dysfibrinogenemia, congenital;Hypofibrinogenemia, congenital	AR
FGFR2	176943	Crouzon syndrome;Saethre-Chotzen syndrome;Craniofacial-skeletal-dermatologic dysplasia;Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis;Gastric cancer, somatic;LADD syndrome;Beare-Stevenson cutis gyrata syndrome;Scaphocephaly, maxillary retrusion, and mental retardation;Apert syndrome;Bent bone dysplasia syndrome;Pfeiffer syndrome;Jackson-Weiss syndrome	AD
FGFR3	134934	Achondroplasia;CATSHL syndrome;Thanatophoric dysplasia, type I;Bladder cancer, somatic;Hypochondroplasia;SADDAN;Colorectal cancer, somatic;Crouzon syndrome with acanthosis nigricans;Cervical cancer, somatic;Nevus, epidermal, somatic;Thanatophoric dysplasia, type II;Spermatocytic seminoma, somatic;Muenke syndrome;LADD syndrome	AD, AD, AR
FGG	134850	Dysfibrinogenemia, congenital;Afibrinogenemia, congenital;Hypofibrinogenemia, congenital;Hypodysfibrinogenemia	AR
FH	136850	Fumarase deficiency;Leiomyomatosis and renal cell cancer	AR, AD
FIG4	609390	Amyotrophic lateral sclerosis 11;Yunis-Varon syndrome;Charcot-Marie-Tooth disease, type 4J;?Polymicrogyria, bilateral temporooccipital	AD, AR
FKBP14	614505	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	AR
FKRP	606596	Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	AR
FKTN	607440	Cardiomyopathy, dilated, 1X;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	AR
FOXC1	601090	Anterior segment dysgenesis 3, multiple subtypes;Axenfeld-Rieger syndrome, type 3	AD
FOXE1	602617	Bamforth-Lazarus syndrome;Thyroid cancer, nonmedullary, 4	AR, AD
FOXG1	164874	Rett syndrome, congenital variant	AD
FOXP3	300292	Immunodysregulation, polyendocrinopathy, and enteropathy, XL	XLR
FOXRED1	613622	MT complex I deficiency, nuclear type 19	AR
FRAS1	607830	Fraser syndrome 1	AR
FUCA1	612280	Fucosidosis	AR
G6PC1	613742	Glycogen storage disease Ia	AR
G6PD	305900	Resistance to malaria due to G6PD deficiency;Hemolytic anemia, G6PD deficient (favism)	XLD
GAA	606800	Glycogen storage disease II	AR
GALC	606890	Krabbe disease	AR
GALE	606953	Galactose epimerase deficiency	AR
GALK1	604313	Galactokinase deficiency with cataracts	AR
GALNS	612222	Mucopolysaccharidosis IVA	AR
GALT	606999	Galactosemia	AR
GAMT	601240	Cerebral creatine deficiency syndrome 2	AR
GAN	605379	Giant axonal neuropathy-1	AR
GARS1	600287	Spinal muscular atrophy, infantile, James type;Charcot-Marie-Tooth disease, type 2D;Neuronopathy, distal hereditary motor, type VA	AD
GATA1	305371	Thrombocytopenia with beta-thalassemia, X-linked;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia;Anemia, X-linked, with/without neutropenia and/or platelet abnormalities;Leukemia, megakaryoblastic, with or without Down syndrome, somatic	XLR
GATM	602360	Cerebral creatine deficiency syndrome 3;Fanconi renotubular syndrome 1	AR, AD
GBA	606463	Lewy body dementia, susceptibility to;Gaucher disease, type IIIC;Parkinson disease, late-onset, susceptibility to;Gaucher disease, type II;Gaucher disease, type III;Gaucher disease, perinatal lethal;Gaucher disease, type I	AD, AR, AD, MF
GBE1	607839	Glycogen storage disease IV;Polyglucosan body disease, adult form	AR
GCDH	608801	Glutaricaciduria, type I	AR
GCH1	600225	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia;Hyperphenylalaninemia, BH4-deficient, B	AD, AR, AR
GCK	138079	Diabetes mellitus, permanent neonatal 1;Diabetes mellitus, noninsulin-dependent, late onset;Hyperinsulinemic hypoglycemia, familial, 3;MODY, type II	AR, AD
GCSH	238330	?Glycine encephalopathy	AR
GDAP1	606598	Charcot-Marie-Tooth disease, axonal, type 2K;Charcot-Marie-Tooth disease, type 4A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis;Charcot-Marie-Tooth disease, recessive intermediate, A	AD, AR, AR
GFAP	137780	Alexander disease	AD
GFM1	606639	Combined oxidative phosphorylation deficiency 1	AR
GFPT1	138292	Myasthenia, congenital, 12, with tubular aggregates	AR
GJA1	121014	Oculodentodigital dysplasia, AR;Atrioventricular septal defect 3;Syndactyly, type III;Craniometaphyseal dysplasia, AR;Palmoplantar keratoderma with congenital alopecia;Oculodentodigital dysplasia;Hypoplastic left heart syndrome 1;Erythrokeratodermia variabilis et progressiva 3	AR, AD
GJB2	121011	Keratoderma, palmoplantar, with deafness;Keratitis-ichthyosis-deafness syndrome;Deafness, AD 3A;Hystrix-like ichthyosis with deafness;Bart-Pumphrey syndrome;Vohwinkel syndrome;Deafness, autosomal recessive 1A	AD, AR, DD
GJB4	605425	Erythrokeratodermia variabilis et progressiva 2	AD
GK	300474	Glycerol kinase deficiency	XLR
GLA	300644	Fabry disease;Fabry disease, cardiac variant	XL
GLB1	611458	GM1-gangliosidosis, type II;GM1-gangliosidosis, type I;Mucopolysaccharidosis type IVB (Morquio);GM1-gangliosidosis, type III	AR
GLDC	238300	Glycine encephalopathy	AR
GLIS3	610192	Diabetes mellitus, neonatal, with congenital hypothyroidism	AR
GLRA1	138491	Hyperekplexia 1	AD, AR
GLRB	138492	Hyperekplexia 2	AR
GLUD1	138130	Hyperinsulinism-hyperammonemia syndrome	AD
GLYCTK	610516	D-glyceric aciduria	AR
GMPPB	615320	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	AR
GNAS	139320	Pseudohypoparathyroidism Ic;Osseous heteroplasia, progressive;Pseudopseudohypoparathyroidism;Pseudohypoparathyroidism Ia;Pseudohypoparathyroidism Ib;Pituitary adenoma 3, multiple types, somatic;ACTH-independent macronodular adrenal hyperplasia;McCune-Albright syndrome, somatic, mosaic	AD, SM
GNE	603824	Nonaka myopathy;Sialuria	AR, AD
GNMT	606628	Glycine N-methyltransferase deficiency	AR
GNPAT	602744	Rhizomelic chondrodysplasia punctata, type 2	AR
GNPTAB	607840	Mucolipidosis III alpha/beta;Mucolipidosis II alpha/beta	AR
GP1BA	606672	Bernard-Soulier syndrome, type A1 (recessive);von Willebrand disease, platelet-type;Bernard-Soulier syndrome, type A2 (dominant);Nonarteritic anterior ischemic optic neuropathy, susceptibility to	AR, AD
GP1BB	138720	Giant platelet disorder, isolated;Bernard-Soulier syndrome, type B	AR
GP9	173515	Bernard-Soulier syndrome, type C	AR
GPC3	300037	Simpson-Golabi-Behmel syndrome, type 1;Wilms tumor, somatic	XLR
GPHN	603930	Molybdenum cofactor deficiency C	AR
GPSM2	609245	Chudley-McCullough syndrome	AR
GSS	601002	Glutathione synthetase deficiency;Hemolytic anemia due to glutathione synthetase deficiency	AR
GUSB	611499	Mucopolysaccharidosis VII	AR
GYS2	138571	Glycogen storage disease 0, liver	AR
HADH	601609	3-hydroxyacyl-CoA dehydrogenase deficiency;Hyperinsulinemic hypoglycemia, familial, 4	AR
HADHA	600890	HELLP syndrome, maternal, of pregnancy;LCHAD deficiency;Fatty liver, acute, of pregnancy;MT trifunctional protein deficiency	AR
HADHB	143450	Trifunctional protein deficiency	AR
HAMP	606464	Hemochromatosis, type 2B	AR
HAX1	605998	Neutropenia, severe congenital 3, AR	AR
HBA1	141800	Methemoglobinemia, alpha type;Heinz body anemias, alpha-;Erythrocytosis 7;Thalassemias, alpha-;Hemoglobin H disease, nondeletional	AD
HBA2	141850	Thalassemia, alpha-;Erythrocytosis 7;Heinz body anemia;Hemoglobin H disease, deletional and nondeletional	AD
HBB	141900	Erythrocytosis 6;Methemoglobinemia, beta type;Delta-beta thalassemia;Thalassemia-beta, dominant inclusion-body;Sickle cell anemia;Hereditary persistence of fetal hemoglobin;Malaria, resistance to;Thalassemia, beta;Heinz body anemia	AD, AR
HCFC1	300019	Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )	XLR
HESX1	601802	Septooptic dysplasia;Pituitary hormone deficiency, combined, 5;Growth hormone deficiency with pituitary anomalies	AD, AR
HEXA	606869	Tay-Sachs disease;[Hex A pseudodeficiency];GM2-gangliosidosis, several forms	AR
HEXB	606873	Sandhoff disease, infantile, juvenile, and adult forms	AR
HGD	607474	Alkaptonuria	AR
HGF	142409	Deafness, autosomal recessive 39	AR
HIBCH	610690	3-hydroxyisobutryl-CoA hydrolase deficiency	AR
HLCS	609018	Holocarboxylase synthetase deficiency	AR
HMGCL	613898	HMG-CoA lyase deficiency	AR
HMGCS2	600234	HMG-CoA synthase-2 deficiency	AR
HNF1A	142410	Diabetes mellitus, insulin-dependent;Diabetes mellitus, insulin-dependent, 20;MODY, type III;Diabetes mellitus, noninsulin-dependent, 2;Hepatic adenoma, somatic;Renal cell carcinoma	AR, AD
HNF1B	189907	Renal cysts and diabetes syndrome;Diabetes mellitus, noninsulin-dependent;Renal cell carcinoma	AD
HNF4A	600281	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young;Diabetes mellitus, noninsulin-dependent;MODY, type I	AD
HPD	609695	Hawkinsinuria;Tyrosinemia, type III	AD, AR
HPGD	601688	Cranioosteoarthropathy;?Digital clubbing, isolated congenital;Hypertrophic osteoarthropathy, primary, autosomal recessive 1	AR
HRAS	190020	Thyroid carcinoma, follicular, somatic;Spitz nevus or nevus spilus, somatic;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic;Bladder cancer, somatic;Costello syndrome;Nevus sebaceous or woolly hair nevus, somatic;Congenital myopathy with excess of muscle spindles	AD
HSD17B10	300256	HSD10 MT disease	XLD
HSD17B4	601860	Perrault syndrome 1;D-bifunctional protein deficiency	AR
HSD3B2	613890	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	AR
HSD3B7	607764	Bile acid synthesis defect, congenital, 1	AR
HSPA9	600548	Even-plus syndrome;Anemia, sideroblastic, 4	AR, AD
HSPD1	118190	Leukodystrophy, hypomyelinating, 4;Spastic paraplegia 13, AD	AR, AD
HSPG2	142461	Schwartz-Jampel syndrome, type 1;Dyssegmental dysplasia, Silverman-Handmaker type	AR
ICOS	604558	Immunodeficiency, common variable, 1	AR
IDUA	252800	Mucopolysaccharidosis Is;Mucopolysaccharidosis Ih/s;Mucopolysaccharidosis Ih	AR
IER3IP1	609382	Microcephaly, epilepsy, and diabetes syndrome	AR
IFIH1	606951	Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1	AD
IFT172	607386	Retinitis pigmentosa 71;Bardet-Biedl syndrome 20;Short-rib thoracic dysplasia 10 with or without polydactyly	AR
IGF1	147440	Growth retardation with deafness and mental retardation due to IGF1 deficiency	AR
IGF1R	147370	Insulin-like growth factor I, resistance to	AD, AR
IGHMBP2	600502	Neuronopathy, distal hereditary motor, type VI;Charcot-Marie-Tooth disease, axonal, type 2S	AR
IGLL1	146770	Agammaglobulinemia 2	AR
IGSF1	300137	Hypothyroidism, central, and testicular enlargement	XLR
IKBKB	603258	Immunodeficiency 15B;Immunodeficiency 15A	AR, AD
IL12RB1	601604	Immunodeficiency 30	AR
IL2RA	147730	Diabetes, mellitus, insulin-dependent, susceptibility to, 10;Immunodeficiency 41 with lymphoproliferation and autoimmunity	AR
IL2RG	308380	Severe combined immunodeficiency, X-linked;Combined immunodeficiency, X-linked, moderate	XLR
IL7R	146661	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type	AR
INS	176730	Diabetes mellitus, insulin-dependent, 2;Maturity-onset diabetes of the young, type 10;Hyperproinsulinemia;Diabetes mellitus, permanent neonatal 4	AD, AD, AR
INSR	147670	Diabetes mellitus, insulin-resistant, with acanthosis nigricans;Rabson-Mendenhall syndrome;Hyperinsulinemic hypoglycemia, familial, 5;Leprechaunism	AR, AD
INVS	243305	Nephronophthisis 2, infantile	AR
IRF8	601565	Immunodeficiency 32B, monocyte and dendritic cell deficiency, AR;Immunodeficiency 32A, mycobacteriosis, AD	AR, AD
IRS4	300904	Hypothyroidism, congenital, nongoitrous, 9	XLR
ITGA2B	607759	Glanzmann thrombasthenia;Bleeding disorder, platelet-type, 16, AD	AR, AD
ITGA6	147556	Epidermolysis bullosa, junctional, with pyloric stenosis	AR
ITGA7	600536	Muscular dystrophy, congenital, due to ITGA7 deficiency	AR
ITGB3	173470	Glanzmann thrombasthenia 2;Glanzmann thrombasthenia;Bleeding disorder, platelet-type, 16, AD;Myocardial infarction, susceptibility to;Bleeding disorder, platelet-type, 24, AD	AR, AD
ITGB4	147557	Epidermolysis bullosa, junctional, non-Herlitz type;Epidermolysis bullosa of hands and feet;Epidermolysis bullosa, junctional, with pyloric atresia	AR, AD
IVD	607036	Isovaleric acidemia	AR
IYD	612025	Thyroid dyshormonogenesis 4	AR
JAG1	601920	Alagille syndrome 1;Charcot-Marie-Tooth disease, axonal, type 2HH;?Deafness, congenital heart defects, and posterior embryotoxon;Tetralogy of Fallot	AD
JAGN1	616012	Neutropenia, severe congenital, 6, AR	AR
JAK3	600173	SCID, autosomal recessive, T-negative/B-positive type	AR
JAM3	606871	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts	AR
KAT6A	601408	Arboleda-Tham syndrome	AD
KAT6B	605880	SBBYSS syndrome;Genitopatellar syndrome	AD
KBTBD13	613727	Nemaline myopathy 6, AD	AD
KCNE1	176261	Jervell and Lange-Nielsen syndrome 2;Long QT syndrome 5	AR, AD
KCNH1	603305	Zimmermann-Laband syndrome 1;Temple-Baraitser syndrome	AD
KCNH2	152427	Long QT syndrome 2;Short QT syndrome 1;Long QT syndrome 2, acquired, susceptibility to	AD
KCNJ10	602208	Enlarged vestibular aqueduct, digenic;SESAME syndrome	AR
KCNJ11	600937	Maturity-onset diabetes of the young, type 13;Diabetes mellitus, transient neonatal 3;Hyperinsulinemic hypoglycemia, familial, 2;Diabetes, permanent neonatal 2, with or without neurologic features;Diabetes mellitus, type 2, susceptibility to	AD, AD, AR
KCNQ1	607542	Long QT syndrome 1, acquired, susceptibility to;Jervell and Lange-Nielsen syndrome;Atrial fibrillation, familial, 3;Short QT syndrome 2;Long QT syndrome 1	AD, AR
KCNQ2	602235	Seizures, benign neonatal, 1;Developmental and epileptic encephalopathy 7;Myokymia	AD
KCNQ3	602232	Seizures, benign neonatal, 2	AD
KCNT1	608167	Developmental and epileptic encephalopathy 14;Epilepsy nocturnal frontal lobe, 5	AD
KCTD7	611725	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions	AR
KIF1B	605995	?Charcot-Marie-Tooth disease, type 2A1;Pheochromocytoma;Neuroblastoma, susceptibility to, 1	AD, AD, SM
KLF1	600599	Dyserythropoietic anemia, congenital, type IV;Blood group--Lutheran inhibitor;[Hereditary persistence of fetal hemoglobin]	AD
KLHL40	615340	Nemaline myopathy 8, AR	AR
KLHL41	607701	Nemaline myopathy 9	AR
KLHL7	611119	PERCHING syndrome;Retinitis pigmentosa 42	AR, AD
KRAS	190070	Arteriovenous malformation of the brain, somatic;Gastric cancer, somatic;Oculoectodermal syndrome, somatic;RAS-associated autoimmune leukoproliferative disorder;Pancreatic carcinoma, somatic;Lung cancer, somatic;Cardiofaciocutaneous syndrome 2;Bladder cancer, somatic;Leukemia, acute myeloid, somatic;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic;Breast cancer, somatic;Noonan syndrome 3	AD
KRT5	148040	Epidermolysis bullosa simplex-MP;Epidermolysis bullosa simplex, Koebner type;Epidermolysis bullosa simplex, recessive 1;Epidermolysis bullosa simplex, Weber-Cockayne type;Epidermolysis bullosa simplex 2B, generalized intermediate;Epidermolysis bullosa simplex 2A, generalized severe;Epidermolysis bullosa simplex-MCR;Dowling-Degos disease 1;Epidermolysis bullosa simplex 2C, localized;Epidermolysis bullosa simplex, Dowling-Meara type;Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, AR	AD, AR
LAMA2	156225	Muscular dystrophy, congenital, merosin deficient or partially deficient;Muscular dystrophy, limb-girdle, autosomal recessive 23	AR
LAMA3	600805	Laryngoonychocutaneous syndrome;Epidermolysis bullosa, junctional, Herlitz type;Epidermolysis bullosa, generalized atrophic benign	AR
LAMB3	150310	Epidermolysis bullosa, junctional, non-Herlitz type;Amelogenesis imperfecta, type IA;Epidermolysis bullosa, junctional, Herlitz type	AR, AD
LAMC2	150292	Epidermolysis bullosa, junctional, non-Herlitz type;Epidermolysis bullosa, junctional, Herlitz type	AR
LAMP2	309060	Danon disease	XLD
LAMTOR2	610389	Immunodeficiency due to defect in MAPBP-interacting protein	AR
LARS2	604544	?Hydrops, lactic acidosis, and sideroblastic anemia;Perrault syndrome 4	AR
LAS1L	300964	Wilson-Turner syndrome	XLR
LCT	603202	Lactase deficiency, congenital	AR
LHX3	600577	Pituitary hormone deficiency, combined, 3	AR
LHX4	602146	Pituitary hormone deficiency, combined, 4	AD
LIAS	607031	Hyperglycinemia, lactic acidosis, and seizures	AR
LIG4	601837	Multiple myeloma, resistance to;LIG4 syndrome	SM, AR
LIPA	613497	Wolman disease;Cholesteryl ester storage disease	AR
LIPN	613924	Ichthyosis, congenital, autosomal recessive 8	AR
LIPT1	610284	Lipoyltransferase 1 deficiency	AR
LMBRD1	612625	Methylmalonic aciduria and homocystinuria, cblF type	AR
LMNA	150330	Malouf syndrome;Emery-Dreifuss muscular dystrophy 3, AR;Emery-Dreifuss muscular dystrophy 2, AD;Hutchinson-Gilford progeria;Muscular dystrophy, congenital;Restrictive dermopathy, lethal;Lipodystrophy, familial partial, type 2;Charcot-Marie-Tooth disease, type 2B1;Mandibuloacral dysplasia;Cardiomyopathy, dilated, 1A;Heart-hand syndrome, Slovenian type	AD, AR
LPIN1	605518	Myoglobinuria, acute recurrent, AR	AR
LRBA	606453	Immunodeficiency, common variable, 8, with autoimmunity	AR
LRPPRC	607544	MT complex IV deficiency, nuclear type 5, (French-Canadian)	AR
LRRC8A	608360	?Agammaglobulinemia 5	AD
MAGEL2	605283	Schaaf-Yang syndrome	AD
MAGT1	300715	Congenital disorder of glycosylation, type Icc;Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia	XLR
MALT1	604860	Immunodeficiency 12	AR
MAN2B1	609458	Mannosidosis, alpha-, types I and II	AR
MANBA	609489	Mannosidosis, beta	AR
MAP2K1	176872	Cardiofaciocutaneous syndrome 3;Melorheostosis, isolated, somatic mosaic	AD
MAP2K2	601263	Cardiofaciocutaneous syndrome 4	AD
MAT1A	610550	Methionine adenosyltransferase deficiency, AR;Hypermethioninemia, persistent, AD, due to methionine adenosyltransferase I/III deficiency	AD, AR
MCCC1	609010	3-Methylcrotonyl-CoA carboxylase 1 deficiency	AR
MCCC2	609014	3-Methylcrotonyl-CoA carboxylase 2 deficiency	AR
MCEE	608419	Methylmalonyl-CoA epimerase deficiency	AR
MCM4	602638	Immunodeficiency 54	AR
MCPH1	607117	Microcephaly 1, primary, AR	AR
MECP2	300005	Rett syndrome, preserved speech variant;Encephalopathy, neonatal severe;Mental retardation, X-linked, syndromic 13;Rett syndrome;Mental retardation, X-linked syndromic, Lubs type;Rett syndrome, atypical;Autism susceptibility, X-linked 3	XLD, XLR, XL
MED12	300188	Opitz-Kaveggia syndrome;Lujan-Fryns syndrome;Ohdo syndrome, X-linked;Hardikar syndrome	XLR, XLD
MEF2C	600662	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations;Chromosome 5q14.3 deletion syndrome	AD
MEGF10	612453	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant	AR
MFN2	608507	Hereditary motor and sensory neuropathy VIA;Charcot-Marie-Tooth disease, axonal, type 2A2B;Charcot-Marie-Tooth disease, axonal, type 2A2A	AD, AR
MFSD8	611124	Ceroid lipofuscinosis, neuronal, 7;Macular dystrophy with central cone involvement	AR
MITF	156845	Melanoma, cutaneous malignant, susceptibility to, 8;Waardenburg syndrome, type 2A;Waardenburg syndrome/ocular albinism, digenic;Tietz albinism-deafness syndrome;COMMAD syndrome	AD, AR
MKKS	604896	McKusick-Kaufman syndrome;Bardet-Biedl syndrome 6	AR
MLC1	605908	Megalencephalic leukoencephalopathy with subcortical cysts	AR
MLYCD	606761	Malonyl-CoA decarboxylase deficiency	AR
MMAA	607481	Methylmalonic aciduria, vitamin B12-responsive	AR
MMAB	607568	Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	AR
MMACHC	609831	Methylmalonic aciduria and homocystinuria, cblC type	AR
MMADHC	611935	Methylmalonic aciduria and homocystinuria, cblD type;Methylmalonic aciduria, cblD type, variant 2;Homocystinuria, cblD type, variant 1	AR
MMUT	609058	Methylmalonic aciduria, mut(0) type	AR
MOCS1	603707	Molybdenum cofactor deficiency A	AR
MOCS2	603708	Molybdenum cofactor deficiency B	AR
MPC1	614738	MT pyruvate carrier deficiency	AR
MPI	154550	Congenital disorder of glycosylation, type Ib	AR
MPL	159530	Myelofibrosis with myeloid metaplasia, somatic;Thrombocytopenia, congenital amegakaryocytic;Thrombocythemia 2	AR, AD, SM
MPV17	137960	Charcot-Marie-Tooth disease, axonal, type 2EE;MT DNA depletion syndrome 6 (hepatocerebral type)	AR
MPZ	159440	Charcot-Marie-Tooth disease, type 2I;Dejerine-Sottas disease;Hypomyelinating neuropathy, congenital, 2;Charcot-Marie-Tooth disease, type 2J;Charcot-Marie-Tooth disease, dominant intermediate D;Charcot-Marie-Tooth disease, type 1B;Roussy-Levy syndrome	AD, AD, AR
MRPL3	607118	Combined oxidative phosphorylation deficiency 9	AR
MRPL44	611849	?Combined oxidative phosphorylation deficiency 16	AR
MSMO1	607545	Microcephaly, congenital cataract, and psoriasiform dermatitis	AR
MTHFR	607093	Neural tube defects, susceptibility to;Homocystinuria due to MTHFR deficiency;Schizophrenia, susceptibility to;Thromboembolism, susceptibility to	AR, AD
MTM1	300415	Myotubular myopathy, XL	XLR
MTMR14	611089	Centronuclear myopathy, autosomal, modifier of	AD
MTO1	614667	Combined oxidative phosphorylation deficiency 10	AR
MTR	156570	Neural tube defects, folate-sensitive, susceptibility to;Homocystinuria-megaloblastic anemia, cblG complementation type	AR
MTRFR	613541	Spastic paraplegia 55, AR;Combined oxidative phosphorylation deficiency 7	AR
MTRR	602568	Homocystinuria-megaloblastic anemia, cbl E type;Neural tube defects, folate-sensitive, susceptibility to	AR
MUSK	601296	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Fetal akinesia deformation sequence 1	AR
MVK	251170	Mevalonic aciduria;Hyper-IgD syndrome;Porokeratosis 3, multiple types	AR, AD
MYCN	164840	Feingold syndrome 1	AD
MYH9	160775	Deafness, AD 17;Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	AD
NAA10	300013	Ogden syndrome;Microphthalmia, syndromic 1	XLD, XLR, XL
NAGA	104170	Schindler disease, type III;Kanzaki disease;Schindler disease, type I	AR
NAGS	608300	N-acetylglutamate synthase deficiency	AR
NALCN	611549	Congenital contractures of the limbs and face, hypotonia, and developmental delay;Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	AD, AR
NARS2	612803	?Deafness, autosomal recessive 94;Combined oxidative phosphorylation deficiency 24	AR
NBAS	608025	Short stature, optic nerve atrophy, and Pelger-Huet anomaly;Infantile liver failure syndrome 2	AR
NDUFA1	300078	MT complex I deficiency, nuclear type 12	XLR
NDUFA10	603835	MT complex I deficiency, nuclear type 22	AR
NDUFA11	612638	MT complex I deficiency, nuclear type 14	AR
NDUFA2	602137	MT complex I deficiency, nuclear type 13	AR
NDUFA9	603834	MT complex I deficiency, nuclear type 26	AR
NDUFAF1	606934	MT complex I deficiency, nuclear type 11	AR
NDUFAF2	609653	MT complex I deficiency, nuclear type 10	AR
NDUFAF3	612911	MT complex I deficiency, nuclear type 18	AR
NDUFAF4	611776	MT complex I deficiency, nuclear type 15	AR
NDUFAF5	612360	MT complex I deficiency, nuclear type 16	AR
NDUFAF6	612392	MT complex I deficiency, nuclear type 17;Fanconi renotubular syndrome 5	AR
NDUFB3	603839	MT complex I deficiency, nuclear type 25	AR
NDUFB9	601445	?MT complex I deficiency, nuclear type 24	AR
NDUFS1	157655	MT complex I deficiency, nuclear type 5	AR
NDUFS2	602985	MT complex I deficiency, nuclear type 6	AR
NDUFS3	603846	MT complex I deficiency, nuclear type 8	AR
NDUFS4	602694	MT complex I deficiency, nuclear type 1	AR
NDUFS6	603848	MT complex I deficiency, nuclear type 9	AR
NDUFS7	601825	MT complex I deficiency, nuclear type 3	AR
NDUFV1	161015	MT complex I deficiency, nuclear type 4	AR
NDUFV2	600532	MT complex I deficiency, nuclear type 7	AR
NEB	161650	Nemaline myopathy 2, AR;Arthrogryposis multiplex congenita 6	AR
NEU1	608272	Sialidosis, type I;Sialidosis, type II	AR
NEUROG3	604882	Diarrhea 4, malabsorptive, congenital	AR
NEXN	613121	Cardiomyopathy, hypertrophic, 20;Cardiomyopathy, dilated, 1CC	AD
NFKB2	164012	Immunodeficiency, common variable, 10	AD
NFU1	608100	Multiple MT dysfunctions syndrome 1	AR
NGF	162030	Neuropathy, hereditary sensory and autonomic, type V	AR
NGLY1	610661	Congenital disorder of deglycosylation	AR
NHEJ1	611290	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
NIPAL4	609383	Ichthyosis, congenital, autosomal recessive 6	AR
NIPBL	608667	Cornelia de Lange syndrome 1	AD
NKX2-1	600635	Chorea, hereditary benign;Choreoathetosis, hypothyroidism, and neonatal respiratory distress;Thyroid cancer, nonmedullary, 1	AD
NKX2-5	600584	Hypoplastic left heart syndrome 2;Hypothyroidism, congenital nongoitrous, 5;Atrial septal defect 7, with or without AV conduction defects;Conotruncal heart malformations, variable;Ventricular septal defect 3;Tetralogy of Fallot	AD
NLRC4	606831	Autoinflammation with infantile enterocolitis;?Familial cold autoinflammatory syndrome 4	AD
NLRP3	606416	CINCA syndrome;Deafness, AD 34, with or without inflammation;Keratoendothelitis fugax hereditaria;Familial cold inflammatory syndrome 1;Muckle-Wells syndrome	AD
NOTCH2	600275	Alagille syndrome 2;Hajdu-Cheney syndrome	AD
NPC1	607623	Niemann-Pick disease, type C1;Niemann-Pick disease, type D	AR
NPC2	601015	Niemann-pick disease, type C2	AR
NPHP1	607100	Joubert syndrome 4;Nephronophthisis 1, juvenile;Senior-Loken syndrome-1	AR
NPHP3	608002	Nephronophthisis 3;Meckel syndrome 7;Renal-hepatic-pancreatic dysplasia 1	AR
NR0B1	300473	Adrenal hypoplasia, congenital;46XY sex reversal 2, dosage-sensitive	XLR, XL
NR3C2	600983	Hypertension, early-onset, AD, with exacerbation in pregnancy;Pseudohypoaldosteronism type I, AD	AD
NRAS	164790	Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic;Colorectal cancer, somatic;Neurocutaneous melanosis, somatic;?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic;Noonan syndrome 6;Melanocytic nevus syndrome, congenital, somatic;Thyroid carcinoma, follicular, somatic;Epidermal nevus, somatic	AD
NSD1	606681	Sotos syndrome 1	AD
NSDHL	300275	CK syndrome;CHILD syndrome	XLR, XLD
NUBPL	613621	MT complex I deficiency, nuclear type 21	AR
OAT	613349	Gyrate atrophy of choroid and retina with or without ornithinemia	AR
OCLN	602876	Pseudo-TORCH syndrome 1	AR
OCRL	300535	Lowe syndrome;Dent disease 2	XLR
ODAD1	615038	Ciliary dyskinesia, primary, 20	AR
OPA3	606580	3-methylglutaconic aciduria, type III;Optic atrophy 3 with cataract	AR, AD
OPHN1	300127	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	XLR
ORC1	601902	Meier-Gorlin syndrome 1	AR
ORC4	603056	Meier-Gorlin syndrome 2	AR
OTC	300461	Ornithine transcarbamylase deficiency	XL
OTX2	600037	Retinal dystrophy, early-onset, with or without pituitary dysfunction;Microphthalmia, syndromic 5;Pituitary hormone deficiency, combined, 6	AD
OXCT1	601424	Succinyl CoA:3-oxoacid CoA transferase deficiency	AR
PAFAH1B1	601545	Subcortical laminar heterotopia;Lissencephaly 1	AD
PAH	612349	Phenylketonuria;[Hyperphenylalaninemia, non-PKU mild]	AR
PAX2	167409	Glomerulosclerosis, focal segmental, 7;Papillorenal syndrome	AD
PAX3	606597	Waardenburg syndrome, type 3;Rhabdomyosarcoma 2, alveolar;Craniofacial-deafness-hand syndrome;Waardenburg syndrome, type 1	AD, AR, SM, AD
PAX6	607108	?Coloboma, ocular;Aniridia;?Morning glory disc anomaly;Keratitis;Optic nerve hypoplasia;?Coloboma of optic nerve;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy;Foveal hypoplasia 1	AD
PAX8	167415	Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia	AD
PC	608786	Pyruvate carboxylase deficiency	AR
PCBD1	126090	Hyperphenylalaninemia, BH4-deficient, D	AR
PCCA	232000	Propionicacidemia	AR
PCCB	232050	Propionicacidemia	AR
PCDH19	300460	Developmental and epileptic encephalopathy 9	XL
PCNT	605925	Microcephalic osteodysplastic primordial dwarfism, type II	AR
PDCD10	609118	Cerebral cavernous malformations 3	AD
PDE10A	610652	Dyskinesia, limb and orofacial, infantile-onset;Striatal degeneration, AD	AR, AD
PDHA1	300502	Pyruvate dehydrogenase E1-alpha deficiency	XLD
PDHB	179060	Pyruvate dehydrogenase E1-beta deficiency	AR
PDHX	608769	Lacticacidemia due to PDX1 deficiency	AR
PDP1	605993	Pyruvate dehydrogenase phosphatase deficiency	AR
PDSS2	610564	Coenzyme Q10 deficiency, primary, 3	AR
PDX1	600733	Pancreatic agenesis 1;MODY, type IV;Diabetes mellitus, type II, susceptibility to	AR, AD
PEPD	613230	Prolidase deficiency	AR
PEX1	602136	Peroxisome biogenesis disorder 1A (Zellweger);Peroxisome biogenesis disorder 1B (NALD/IRD);Heimler syndrome 1	AR
PEX10	602859	Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B	AR
PEX12	601758	Peroxisome biogenesis disorder 3B;Peroxisome biogenesis disorder 3A (Zellweger)	AR
PEX13	601789	Peroxisome biogenesis disorder 11B;Peroxisome biogenesis disorder 11A (Zellweger)	AR
PEX14	601791	Peroxisome biogenesis disorder 13A (Zellweger)	AR
PEX16	603360	Peroxisome biogenesis disorder 8A (Zellweger);Peroxisome biogenesis disorder 8B	AR
PEX19	600279	Peroxisome biogenesis disorder 12A (Zellweger)	AR
PEX2	170993	Peroxisome biogenesis disorder 5B;Peroxisome biogenesis disorder 5A (Zellweger)	AR
PEX26	608666	Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B	AR
PEX3	603164	Peroxisome biogenesis disorder 10A (Zellweger);?Peroxisome biogenesis disorder 10B	AR
PEX5	600414	Rhizomelic chondrodysplasia punctata, type 5;Peroxisome biogenesis disorder 2B;Peroxisome biogenesis disorder 2A (Zellweger)	AR
PEX6	601498	Peroxisome biogenesis disorder 4B;Peroxisome biogenesis disorder 4A (Zellweger);Heimler syndrome 2	AD, AR, AR
PEX7	601757	Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata, type 1	AR
PGAP1	611655	Mental retardation, autosomal recessive 42	AR
PGM1	171900	Congenital disorder of glycosylation, type It	AR
PHGDH	606879	Phosphoglycerate dehydrogenase deficiency;Neu-Laxova syndrome 1	AR
PHKG2	172471	Glycogen storage disease IXc	AR
PHOX2B	603851	Central hypoventilation syndrome, congenital, with or without Hirschsprung disease;Neuroblastoma, susceptibility to, 2;Neuroblastoma with Hirschsprung disease	AD
PIGA	311770	Paroxysmal nocturnal hemoglobinuria, somatic;Multiple congenital anomalies-hypotonia-seizures syndrome 2	XLR
PIGN	606097	Multiple congenital anomalies-hypotonia-seizures syndrome 1	AR
PIGT	610272	Multiple congenital anomalies-hypotonia-seizures syndrome 3;?Paroxysmal nocturnal hemoglobinuria 2	AR, AD, SM
PIGV	610274	Hyperphosphatasia with mental retardation syndrome 1	AR
PIK3CD	602839	Immunodeficiency 14;?Roifman-Chitayat syndrome, digenic;Immunodeficiency 14B, AR	AD, DR, AR
PKD2	173910	Polycystic kidney disease 2	AD
PKHD1	606702	Polycystic kidney disease 4, with or without hepatic disease	AR
PKLR	609712	Adenosine triphosphate, elevated, of erythrocytes;Pyruvate kinase deficiency	AD, AR
PLCB4	600810	Auriculocondylar syndrome 2	AD, AR
PLEC	601282	Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with muscular dystrophy;?Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Muscular dystrophy, limb-girdle, autosomal recessive 17	AD, AR
PLOD1	153454	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	AR
PLP1	300401	Pelizaeus-Merzbacher disease;Spastic paraplegia 2, XL	XLR
PMM2	601785	Congenital disorder of glycosylation, type Ia	AR
PMP22	601097	Neuropathy, recurrent, with pressure palsies;Dejerine-Sottas disease;Roussy-Levy syndrome;?Neuropathy, inflammatory demyelinating;Charcot-Marie-Tooth disease, type 1E;Charcot-Marie-Tooth disease, type 1A	AD, AD, AR, ?AD
PNKP	605610	Ataxia-oculomotor apraxia 4;Microcephaly, seizures, and developmental delay;?Charcot-Marie-Tooth disease, type 2B2	AR
PNP	164050	Immunodeficiency due to purine nucleoside phosphorylase deficiency	AR
PNPLA1	612121	Ichthyosis, congenital, autosomal recessive 10	AR
PNPO	603287	Pyridoxamine 5'-phosphate oxidase deficiency	AR
PNPT1	610316	Deafness, autosomal recessive 70;Combined oxidative phosphorylation deficiency 13	AR
POGZ	614787	White-Sutton syndrome	AD
POLG	174763	Progressive external ophthalmoplegia, autosomal recessive 1;Progressive external ophthalmoplegia, AD 1;MT recessive ataxia syndrome (includes SANDO and SCAE);MT DNA depletion syndrome 4B (MNGIE type);MT DNA depletion syndrome 4A (Alpers type)	AR, AD
POLG2	604983	MT DNA depletion syndrome 16 (hepatic type);?MT DNA depletion syndrome 16B (neuroophthalmic type);Progressive external ophthalmoplegia with MT DNA deletions, AD 4	AR, AD
POMGNT1	606822	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3;Retinitis pigmentosa 76	AR
POMGNT2	614828	Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8	AR
POMK	615247	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12;?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12	AR
POMT1	607423	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1	AR
POMT2	607439	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	AR
POU1F1	173110	Pituitary hormone deficiency, combined, 1	AD, AR
PPT1	600722	Ceroid lipofuscinosis, neuronal, 1	AR
PRDM16	605557	Cardiomyopathy, dilated, 1LL;Left ventricular noncompaction 8	AD
PRKAG2	602743	Glycogen storage disease of heart, lethal congenital;Cardiomyopathy, hypertrophic 6;Wolff-Parkinson-White syndrome	AD
PRKAR1A	188830	Myxoma, intracardiac;Pigmented nodular adrenocortical disease, primary, 1;Carney complex, type 1;Acrodysostosis 1, with or without hormone resistance	AD
PROC	612283	Thrombophilia due to protein C deficiency, AD;Thrombophilia due to protein C deficiency, AR	AD, AR
PRODH	606810	Schizophrenia, susceptibility to, 4;Hyperprolinemia, type I	AD, AR
PROP1	601538	Pituitary hormone deficiency, combined, 2	AR
PROS1	176880	Thrombophilia due to protein S deficiency, AR;Thrombophilia due to protein S deficiency, AD	AR, AD
PRPS1	311850	Charcot-Marie-Tooth disease, XLR, 5;Deafness, X-linked 1;Phosphoribosylpyrophosphate synthetase superactivity;Arts syndrome;Gout, PRPS-related	XLR, XL
PRRT2	614386	Episodic kinesigenic dyskinesia 1;Convulsions, familial infantile, with paroxysmal choreoathetosis;Seizures, benign familial infantile, 2	AD
PSAP	176801	Combined SAP deficiency;Gaucher disease, atypical;Krabbe disease, atypical;Parkinson disease 24, AD, susceptibility to;Metachromatic leukodystrophy due to SAP-b deficiency	AR, AD
PSAT1	610936	Neu-Laxova syndrome 2;?Phosphoserine aminotransferase deficiency	AR
PSPH	172480	Phosphoserine phosphatase deficiency	AR
PTPN11	176876	Leukemia, juvenile myelomonocytic, somatic;LEOPARD syndrome 1;Metachondromatosis;Noonan syndrome 1	AD
PTPRC	151460	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive;Hepatitis C virus, susceptibility to	AR
PTRH2	608625	Infantile-onset multisystem neurologic, endocrine, and pancreatic disease	AR
PTS	612719	Hyperphenylalaninemia, BH4-deficient, A	AR
PURA	600473	Mental retardation, AD 31	AD
QDPR	612676	Hyperphenylalaninemia, BH4-deficient, C	AR
RAB18	602207	Warburg micro syndrome 3	AR
RAB3GAP1	602536	Martsolf syndrome 2;Warburg micro syndrome 1	AR
RAB3GAP2	609275	Warburg micro syndrome 2;Martsolf syndrome	AR
RAC2	602049	?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia;Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis;Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia	AR, AD
RAF1	164760	Noonan syndrome 5;LEOPARD syndrome 2;Cardiomyopathy, dilated, 1NN	AD
RAG1	179615	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity;Omenn syndrome;Severe combined immunodeficiency, B cell-negative;Combined cellular and humoral immune defects with granulomas	AR
RAG2	179616	Omenn syndrome;Combined cellular and humoral immune defects with granulomas;Severe combined immunodeficiency, B cell-negative	AR
RANBP2	601181	Encephalopathy, acute, infection-induced, 3, susceptibility to	AD
RAPSN	601592	Fetal akinesia deformation sequence 2;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	AR
RARS2	611524	Pontocerebellar hypoplasia, type 6	AR
RB1	614041	Bladder cancer, somatic;Retinoblastoma, trilateral;Small cell cancer of the lung, somatic;Osteosarcoma, somatic;Retinoblastoma	AD, SM
RBBP8	604124	Seckel syndrome 2;Jawad syndrome	AR
RBM8A	605313	Thrombocytopenia-absent radius syndrome	AR
RET	164761	Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia IIA;Medullary thyroid carcinoma;Pheochromocytoma;Multiple endocrine neoplasia IIB;Hirschsprung disease, protection against;Central hypoventilation syndrome, congenital	AD
RFT1	611908	Congenital disorder of glycosylation, type In	AR
RFX5	601863	Bare lymphocyte syndrome, type II, complementation group E;Bare lymphocyte syndrome, type II, complementation group C	AR
RFX6	612659	Mitchell-Riley syndrome	AR
RIT1	609591	Noonan syndrome 8	AD
RMND1	614917	Combined oxidative phosphorylation deficiency 11	AR
RNASEH2C	610330	Aicardi-Goutieres syndrome 3	AR
RNASET2	612944	Leukoencephalopathy, cystic, without megalencephaly	AR
RORC	602943	Immunodeficiency 42	AR
RPS19	603474	Diamond-Blackfan anemia 1	AD
RRM2B	604712	MT DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy);Progressive external ophthalmoplegia with MT DNA deletions, AD 5;MT DNA depletion syndrome 8B (MNGIE type)	AR, AD
RXYLT1	605862	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10	AR
RYR1	180901	Malignant hyperthermia susceptibility 1;King-Denborough syndrome;Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Minicore myopathy with external ophthalmoplegia	AD, AD, AR, AR
SALL1	602218	Townes-Brocks branchiootorenal-like syndrome;Townes-Brocks syndrome 1	AD
SATB2	608148	Glass syndrome	AD
SBDS	607444	Aplastic anemia, susceptibility to;Shwachman-Diamond syndrome	AR
SCN1A	182389	Epilepsy, generalized, with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3;Developmental and epileptic encephalopathy 6B, non-Dravet;Febrile seizures, familial, 3A;Dravet syndrome	AD
SCN2A	182390	Developmental and epileptic encephalopathy 11;Seizures, benign familial infantile, 3;Episodic ataxia, type 9	AD
SCN4A	603967	Paramyotonia congenita;Myotonia congenita, atypical, acetazolamide-responsive;Myasthenic syndrome, congenital, 16;Hyperkalemic periodic paralysis, type 2;Hypokalemic periodic paralysis, type 2	AD, AR
SCN5A	600163	Heart block, nonprogressive;Ventricular fibrillation, familial, 1;Sick sinus syndrome 1;Brugada syndrome 1;Heart block, progressive, type IA;Atrial fibrillation, familial, 10;Long QT syndrome 3;Cardiomyopathy, dilated, 1E;Sudden infant death syndrome, susceptibility to	AD, AR
SCN9A	603415	Erythermalgia, primary;Generalized epilepsy with febrile seizures plus, type 7;Febrile seizures, familial, 3B;Neuropathy, hereditary sensory and autonomic, type IID;Insensitivity to pain, congenital;Paroxysmal extreme pain disorder;Small fiber neuropathy	AD, AR
SCO1	603644	MT complex IV deficiency, nuclear type 4	AR
SCO2	604272	Myopia 6;MT complex IV deficiency, nuclear type 2	AD, AR
SDHA	600857	Neurodegeneration with ataxia and late-onset optic atrophy;Cardiomyopathy, dilated, 1GG;Leigh syndrome;MT respiratory chain complex II deficiency;Paragangliomas 5	AD, AR, AR, MT
SDHAF1	612848	MT complex II deficiency, nuclear type 2;MT complex II deficiency	AR
SECISBP2	607693	Thyroid hormone metabolism, abnormal	AR
SELENON	606210	Muscular dystrophy, rigid spine, 1;Myopathy, congenital, with fiber-type disproportion	AR, AD, AR
SERAC1	614725	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	AR
SERPINC1	107300	Thrombophilia due to antithrombin III deficiency	AD, AR
SERPING1	606860	Complement component 4, partial deficiency of;Angioedema, hereditary, types I and II	AD, AD, AR
SFTPB	178640	Surfactant metabolism dysfunction, pulmonary, 1	AR
SFTPC	178620	Surfactant metabolism dysfunction, pulmonary, 2	AD
SHOC2	602775	Noonan syndrome-like with loose anagen hair 1	AD
SIL1	608005	Marinesco-Sjogren syndrome	AR
SIX3	603714	Holoprosencephaly 2;Schizencephaly	AD
SIX5	600963	Branchiootorenal syndrome 2
SKI	164780	Shprintzen-Goldberg syndrome	AD
SLC12A6	604878	Agenesis of the corpus callosum with peripheral neuropathy	AR
SLC16A1	600682	Hyperinsulinemic hypoglycemia, familial, 7;Erythrocyte lactate transporter defect;Monocarboxylate transporter 1 deficiency	AD, AD, AR
SLC16A2	300095	Allan-Herndon-Dudley syndrome	XL
SLC17A5	604322	Sialic acid storage disorder, infantile;Salla disease	AR
SLC19A2	603941	Thiamine-responsive megaloblastic anemia syndrome	AR
SLC19A3	606152	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)	AR
SLC22A5	603377	Carnitine deficiency, systemic primary	AR
SLC25A1	190315	Myasthenic syndrome, congenital, 23, presynaptic;Combined D-2- and L-2-hydroxyglutaric aciduria	AR
SLC25A12	603667	Developmental and epileptic encephalopathy 39	AR
SLC25A13	603859	Citrullinemia, type II, neonatal-onset;Citrullinemia, adult-onset type II	AR
SLC25A15	603861	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	AR
SLC25A19	606521	Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type);Microcephaly, Amish type	AR
SLC25A20	613698	Carnitine-acylcarnitine translocase deficiency	AR
SLC25A22	609302	Developmental and epileptic encephalopathy 3	AR
SLC25A3	600370	MT phosphate carrier deficiency	AR
SLC26A2	606718	Diastrophic dysplasia, broad bone-platyspondylic variant;Achondrogenesis Ib;Epiphyseal dysplasia, multiple, 4;De la Chapelle dysplasia;Diastrophic dysplasia;Atelosteogenesis, type II	AR
SLC26A3	126650	Diarrhea 1, secretory chloride, congenital	AR
SLC26A4	605646	Pendred syndrome;Deafness, autosomal recessive 4, with enlarged vestibular aqueduct	AR
SLC2A1	138140	GLUT1 deficiency syndrome 2, childhood onset;GLUT1 deficiency syndrome 1, infantile onset, severe;Epilepsy, idiopathic generalized, susceptibility to, 12;Stomatin-deficient cryohydrocytosis with neurologic defects;Dystonia 9	AD, AD, AR
SLC30A2	609617	Zinc deficiency, transient neonatal	AD
SLC33A1	603690	Congenital cataracts, hearing loss, and neurodegeneration;Spastic paraplegia 42, AD	AR, AD
SLC3A1	104614	Cystinuria	AD, AR
SLC4A1	109270	[Blood group, Wright];Distal renal tubular acidosis 1;Ovalocytosis, SA type;[Malaria, resistance to];[Blood group, Swann];[Blood group, Froese];[Blood group, Waldner];Cryohydrocytosis;[Blood group, Diego];Distal renal tubular acidosis 4 with hemolytic anemia;Spherocytosis, type 4	AD, AR
SLC52A1	607883	Riboflavin deficiency	AD
SLC52A3	613350	?Fazio-Londe disease;Brown-Vialetto-Van Laere syndrome 1	AR
SLC5A1	182380	Glucose/galactose malabsorption	AR
SLC5A5	601843	Thyroid dyshormonogenesis 1	AR
SLC6A1	137165	Myoclonic-atonic epilepsy	AD
SLC6A3	126455	Nicotine dependence, protection against;Parkinsonism-dystonia, infantile, 1	AR
SLC6A5	604159	Hyperekplexia 3	AD, AR
SLC7A7	603593	Lysinuric protein intolerance	AR
SLC7A9	604144	Cystinuria	AD, AR
SLCO1B1	604843	Hyperbilirubinemia, Rotor type, digenic	DR
SLCO1B3	605495	Hyperbilirubinemia, Rotor type, digenic	DR
SMPD1	607608	Niemann-Pick disease, type A;Niemann-Pick disease, type B	AR
SNAI2	602150	Waardenburg syndrome, type 2D;Piebaldism	AR, AD
SNX10	614780	Osteopetrosis, autosomal recessive 8	AR
SOS1	182530	Noonan syndrome 4;?Fibromatosis, gingival, 1	AD
SOX10	602229	Waardenburg syndrome, type 4C;PCWH syndrome;Waardenburg syndrome, type 2E, with or without neurologic involvement	AD
SOX2	184429	Microphthalmia, syndromic 3;Optic nerve hypoplasia and abnormalities of the central nervous system	AD
SOX9	608160	Acampomelic campomelic dysplasia;Campomelic dysplasia;Campomelic dysplasia with autosomal sex reversal	AD
SPAST	604277	Spastic paraplegia 4, AD	AD
SPEG	615950	Centronuclear myopathy 5	AR
SPINK5	605010	Netherton syndrome	AR
SPINT2	605124	Diarrhea 3, secretory sodium, congenital, syndromic	AR
SPR	182125	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	?AD, AR
SPRED1	609291	Legius syndrome	AD
SPTA1	182860	Pyropoikilocytosis;Elliptocytosis-2;Spherocytosis, type 3	AR, AD
SPTAN1	182810	Developmental and epileptic encephalopathy 5	AD
SPTB	182870	Spherocytosis, type 2;Elliptocytosis-3;Anemia, neonatal hemolytic, fatal or near-fatal	AD
SRD5A3	611715	Congenital disorder of glycosylation, type Iq;Kahrizi syndrome	AR
ST3GAL3	606494	?Developmental and epileptic encephalopathy 15;Mental retardation, autosomal recessive 12	AR
ST3GAL5	604402	Salt and pepper developmental regression syndrome	AR
STAR	600617	Lipoid adrenal hyperplasia	AR
STAT1	600555	Immunodeficiency 31C, chronic mucocutaneous candidiasis, AD;Immunodeficiency 31B, mycobacterial and viral infections, AR;Immunodeficiency 31A, mycobacteriosis, AD	AD, AR
STAT3	102582	Hyper-IgE recurrent infection syndrome;Autoimmune disease, multisystem, infantile-onset, 1	AD
STIL	181590	Microcephaly 7, primary, AR	AR
STIM1	605921	Myopathy, tubular aggregate, 1;Stormorken syndrome;Immunodeficiency 10	AD, AR
STING1	612374	STING-associated vasculopathy, infantile-onset	AD
STS	300747	Ichthyosis, XL	XLR
STT3B	608605	?Congenital disorder of glycosylation, type Ix	AR
STXBP1	602926	Developmental and epileptic encephalopathy 4	AD
SUCLA2	603921	MT DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	AR
SUCLG1	611224	MT DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)	AR
SUMF1	607939	Multiple sulfatase deficiency	AR
SUOX	606887	Sulfite oxidase deficiency	AR
SYNE1	608441	Arthrogryposis multiplex congenita 3, myogenic type;Emery-Dreifuss muscular dystrophy 4, AD;Spinocerebellar ataxia, autosomal recessive 8	AR, AD
TACO1	612958	MT complex IV deficiency, nuclear type 8	AR
TAFAZZIN	300394	Barth syndrome	XLR
TAT	613018	Tyrosinemia, type II	AR
TBC1D24	613577	Deafness, AD 65;Deafness , autosomal recessive 86;Myoclonic epilepsy, infantile, familial;Developmental and epileptic encephalopathy 16;DOORS syndrome;Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp	AD, AR
TBCE	604934	Hypoparathyroidism-retardation-dysmorphism syndrome;Encephalopathy, progressive, with amyotrophy and optic atrophy;Kenny-Caffey syndrome, type 1	AR
TBL1X	300196	Hypothyroidism, congenital, nongoitrous, 8	XL
TBX19	604614	Adrenocorticotropic hormone deficiency	AR
TBX5	601620	Holt-Oram syndrome	AD
TCAP	604488	Muscular dystrophy, limb-girdle, autosomal recessive 7;Cardiomyopathy, hypertrophic, 25	AR, AD
TCN2	613441	Transcobalamin II deficiency	AR
TFR2	604720	Hemochromatosis, type 3	AR
TG	188450	Thyroid dyshormonogenesis 3;Autoimmune thyroid disease, susceptibility to, 3	AR
TGM1	190195	Ichthyosis, congenital, autosomal recessive 1	AR
TH	191290	Segawa syndrome, recessive	AR
THRA	190120	Hypothyroidism, congenital, nongoitrous, 6	AD
THRB	190160	Thyroid hormone resistance, AR;Thyroid hormone resistance;Thyroid hormone resistance, selective pituitary	AR, AD
TJP2	607709	Hypercholanemia, familial;Cholestasis, progressive familial intrahepatic 4	AR
TMCO1	614123	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	AR
TMEM165	614726	Congenital disorder of glycosylation, type IIk	AR
TMEM70	612418	MT complex V (ATP synthase) deficiency, nuclear type 2	AR
TNFRSF13B	604907	Immunodeficiency, common variable, 2;Immunoglobulin A deficiency 2	AD, AR
TNFRSF13C	606269	Immunodeficiency, common variable, 4	AR
TNFSF4	603594	Myocardial infarction, susceptibility to
TNNT1	191041	Nemaline myopathy 5, Amish type	AR
TP63	603273	Rapp-Hodgkin syndrome;Orofacial cleft 8;Limb-mammary syndrome;Split-hand/foot malformation 4;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3;Hay-Wells syndrome;ADULT syndrome	AD
TPM2	190990	Arthrogryposis, distal, type 2B4;Arthrogryposis, distal, type 1A;CAP myopathy 2;Nemaline myopathy 4, AD	AD
TPM3	191030	Myopathy, congenital, with fiber-type disproportion;Nemaline myopathy 1, AD or recessive;CAP myopathy 1	AD, AR
TPO	606765	Thyroid dyshormonogenesis 2A	AR
TPP1	607998	Ceroid lipofuscinosis, neuronal, 2;Spinocerebellar ataxia, autosomal recessive 7	AR
TRH	613879	Thyrotropin-releasing hormone deficiency	AR
TRHR	188545	Hypothyroidism, congenital, nongoitrous, 7	AR
TRIP11	604505	Achondrogenesis, type IA;Osteochondrodysplasia	AR
TRMU	610230	Liver failure, transient infantile;Deafness, MT, modifier of	AR, MT
TRPV4	605427	SED, Maroteaux type;Spondylometaphyseal dysplasia, Kozlowski type;Metatropic dysplasia;Brachyolmia type 3;Neuronopathy, distal hereditary motor, type VIII;[Sodium serum level QTL 1];?Avascular necrosis of femoral head, primary, 2;Scapuloperoneal spinal muscular atrophy;Parastremmatic dwarfism;Hereditary motor and sensory neuropathy, type IIc;Digital arthropathy-brachydactyly, familial	AD
TSC1	605284	Lymphangioleiomyomatosis;Focal cortical dysplasia, type II, somatic;Tuberous sclerosis-1	AD
TSC2	191092	?Focal cortical dysplasia, type II, somatic;Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2	AD
TSFM	604723	Combined oxidative phosphorylation deficiency 3	AR
TSHB	188540	Hypothyroidism, congenital, nongoitrous 4	AR
TSHR	603372	Hyperthyroidism, nonautoimmune;Hypothyroidism, congenital, nongoitrous, 1;Hyperthyroidism, familial gestational	AD, AR
TSPYL1	604714	Sudden infant death with dysgenesis of the testes syndrome	AR
TTC7A	609332	Gastrointestinal defects and immunodeficiency syndrome	AR
TTN	188840	Cardiomyopathy, dilated, 1G;Muscular dystrophy, limb-girdle, autosomal recessive 10;Tibial muscular dystrophy, tardive;Myopathy, myofibrillar, 9, with early respiratory failure;Salih myopathy;Cardiomyopathy, familial hypertrophic, 9	AR, AD
TUBA8	605742	Cortical dysplasia, complex, with other brain malformations 8	AR
TUBB1	612901	Macrothrombocytopenia, AD, TUBB1-related	AD
TUBB2A	615101	Cortical dysplasia, complex, with other brain malformations 5	AD
TWNK	606075	Progressive external ophthalmoplegia with MT DNA deletions, AD 3;Perrault syndrome 5;MT DNA depletion syndrome 7 (hepatocerebral type)	AD, AR
UBA1	314370	VEXAS syndrome, somatic;Spinal muscular atrophy, X-linked 2, infantile	XLR
UBR1	605981	Johanson-Blizzard syndrome	AR
UGT1A1	191740	[Gilbert syndrome];Crigler-Najjar syndrome, type II;Crigler-Najjar syndrome, type I;Hyperbilirubinemia, familial transient neonatal;[Bilirubin, serum level of, QTL1]	AR
UMPS	613891	Orotic aciduria	AR
UNG	191525	Immunodeficiency with hyper IgM, type 5	AR
UPB1	606673	Beta-ureidopropionase deficiency	AR
UQCRC2	191329	MT complex III deficiency, nuclear type 5	AR
UROD	613521	Porphyria, hepatoerythropoietic;Porphyria cutanea tarda	AD, AR
UROS	606938	Porphyria, congenital erythropoietic	AR
WAS	300392	Wiskott-Aldrich syndrome;Thrombocytopenia, X-linked;Neutropenia, severe congenital, X-linked;Thrombocytopenia, X-linked, intermittent	XLR
WDPCP	613580	Congenital heart defects, hamartomas of tongue, and polysyndactyly;?Bardet-Biedl syndrome 15	AR
WDR62	613583	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	AR
WDR73	616144	Galloway-Mowat syndrome 1	AR
WFS1	606201	?Cataract 41;Wolfram-like syndrome, AD;Wolfram syndrome 1;Diabetes mellitus, noninsulin-dependent, association with;Deafness, AD 6/14/38	AD, AR
WNK1	605232	Neuropathy, hereditary sensory and autonomic, type II;Pseudohypoaldosteronism, type IIC	AR, AD
WT1	607102	Denys-Drash syndrome;Mesothelioma, somatic;Frasier syndrome;Meacham syndrome;Wilms tumor, type 1;Nephrotic syndrome, type 4	AD, SM, AD
ZAP70	176947	Autoimmune disease, multisystem, infantile-onset, 2;Immunodeficiency 48	AR
ZEB2	605802	Mowat-Wilson syndrome	AD
ZFP57	612192	Diabetes mellitus, transient neonatal 1	AD
ZNF423	604557	Joubert syndrome 19;Nephronophthisis 14	AD, AR

COMMON SYNDROMES AND DISORDERS COVERED

Alagille syndrome
Alpha-Thalassemia
Arginase deficiency
Beta-Thalassemia
Biotinidase deficiency
Biotin-thiamine-responsive basal ganglia disease
Carnitine deficiency
Cystic Fibrosis
Dystonia DOPA responsive
Factor VII deficiency
Glucose transporter 1 deficiency
Glutaric acidemia Type 1
Hereditary fructose intolerance
Holocarboxylase synthetase deficiency
Maple syrup urine disease (MSUD)
Non ketotic hyperglicinemia
Phenylketonuria
Pompe disease
Primary coenzyme Q10 deficiency
Pyridoxamine 5 phosphate oxidase deficiency
Pyridoxine-dependent epilepsy
Pyruvate carboxylase deficiency
Tuberous sclerosis complex
Tyrosinemia type I
VLCAD deficiency

*List does not include all disorders covered by our panel

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CentoMito Comprehensive

CentoMito Comprehensive covers the entire mitochondrial genome (≥97% ≥ 200x coverage) with detection of heteroplasmy down to 5% along with nuclear genes related to mitochondrial diseases (≥99.0% ≥20x coverage). Mitochondrial diseases are genetic conditions that occur when mitochondria fails to produce enough energy for the cell. Genetic mutations related to mitochondria cause symptoms mainly in the organs, where energetic consumption is high. These organs include the eye, kidney, pancreas, blood, inner ear, colon, skeletal muscle, heart, and brain.

No. of genes:	450
TAT:	25 days
Coverage:	≥99.0% ≥20x (nuclear mitochondrial genes) ≥97% ≥200x
Details:	CNV analysis included mtDNA analysis included

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
AARS2	612035	Combined oxidative phosphorylation deficiency 8;Leukoencephalopathy, progressive, with ovarian failure	AR
AASS	605113	Hyperlysinemia	AR
ABAT	137150	GABA-transaminase deficiency	AR
ABCB6	605452	Microphthalmia, isolated, with coloboma 7;[Blood group, Langereis system];Dyschromatosis universalis hereditaria 3;Pseudohyperkalemia, familial, 2, due to red cell leak	AD
ABCB7	300135	Anemia, sideroblastic, with ataxia	XLR
ABCD1	300371	Adrenoleukodystrophy;Adrenomyeloneuropathy, adult	XLR
ABCD3	170995	?Bile acid synthesis defect, congenital, 5	AR
ACACA	200350	Acetyl-CoA carboxylase deficiency	AR
ACAD8	604773	Isobutyryl-CoA dehydrogenase deficiency	AR
ACAD9	611103	MT complex I deficiency, nuclear type 20	AR
ACADM	607008	Acyl-CoA dehydrogenase, medium chain, deficiency of	AR
ACADS	606885	Acyl-CoA dehydrogenase, short-chain, deficiency of	AR
ACADSB	600301	2-methylbutyrylglycinuria	AR
ACADVL	609575	VLCAD deficiency	AR
ACAT1	607809	Alpha-methylacetoacetic aciduria	AR
ACO2	100850	?Optic atrophy 9;Infantile cerebellar-retinal degeneration	AR
ACOX1	609751	Peroxisomal acyl-CoA oxidase deficiency;Mitchell syndrome	AR, AD
ACSF3	614245	Combined malonic and methylmalonic aciduria
ACSL4	300157	Mental retardation, X-linked 63	XLD
ADAR	146920	Aicardi-Goutieres syndrome 6;Dyschromatosis symmetrica hereditaria	AR, AD
AFG3L2	604581	Spinocerebellar ataxia 28;Spastic ataxia 5, AR;Optic atrophy 12	AD, AR
AGK	610345	Sengers syndrome;Cataract 38, AR	AR
AGXT	604285	Hyperoxaluria, primary, type 1	AR
AIFM1	300169	Cowchock syndrome;Combined oxidative phosphorylation deficiency 6;Deafness, X-linked 5;Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy	XLR
AK2	103020	Reticular dysgenesis	AR
ALAS2	301300	Protoporphyria, erythropoietic, X-linked;Anemia, sideroblastic, 1	XL, XLR
ALDH18A1	138250	Cutis laxa, AD 3;Cutis laxa, autosomal recessive, type IIIA;Spastic paraplegia 9B, AR;Spastic paraplegia 9A, AD	AD, AR
ALDH2	100650	Alcohol sensitivity, acute;Hangover, susceptibility to	AD
ALDH3A2	609523	Sjogren-Larsson syndrome	AR
ALDH4A1	606811	Hyperprolinemia, type II	AR
ALDH5A1	610045	Succinic semialdehyde dehydrogenase deficiency	AR
ALDH6A1	603178	Methylmalonate semialdehyde dehydrogenase deficiency	AR
ALDH7A1	107323	Epilepsy, pyridoxine-dependent	AR
AMACR	604489	Bile acid synthesis defect, congenital, 4;Alpha-methylacyl-CoA racemase deficiency	AR
AMPD1	102770	Myopathy due to myoadenylate deaminase deficiency	AR
AMT	238310	Glycine encephalopathy	AR
APTX	606350	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	AR
ATIC	601731	AICA-ribosiduria due to ATIC deficiency	AR
ATP5F1A	164360	?MT complex V (ATP synthase) deficiency, nuclear type 4;?Combined oxidative phosphorylation deficiency 22	AR
ATP5F1E	606153	?MT complex V (ATP synthase) deficiency, nuclear type 3	AR
ATP7B	606882	Wilson disease	AR
ATPAF2	608918	?MT complex V (ATP synthase) deficiency, nuclear type 1	AR
AUH	600529	3-methylglutaconic aciduria, type I	AR
BAG3	603883	Cardiomyopathy, dilated, 1HH;Myopathy, myofibrillar, 6	AD
BCKDHA	608348	Maple syrup urine disease, type Ia	AR
BCKDHB	248611	Maple syrup urine disease, type Ib	AR
BCKDK	614901	Branched-chain ketoacid dehydrogenase kinase deficiency
BCS1L	603647	GRACILE syndrome;Bjornstad syndrome;MT complex III deficiency, nuclear type 1	AR
BOLA3	613183	Multiple MT dysfunctions syndrome 2 with hyperglycinemia	AR
BTD	609019	Biotinidase deficiency	AR
C19orf12	614297	Neurodegeneration with brain iron accumulation 4;?Spastic paraplegia 43, AR	AD, AR, AR
C1QBP	601269	Combined oxidative phosphorylation deficiency 33	AR
CA5A	114761	Hyperammonemia due to carbonic anhydrase VA deficiency	AR
CARS2	612800	Combined oxidative phosphorylation deficiency 27	AR
CAT	115500	Acatalasemia
CAVIN1	603198	Lipodystrophy, congenital generalized, type 4	AR
CEL	114840	Maturity-onset diabetes of the young, type VIII	AD
CHAT	118490	Myasthenic syndrome, congenital, 6, presynaptic	AR
CHCHD10	615903	?Myopathy, isolated MT, AD;Spinal muscular atrophy, Jokela type;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	AD
CISD2	611507	Wolfram syndrome 2	AR
CLPB	616254	3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia	AR
CLPP	601119	Perrault syndrome 3	AR
COA5	613920	?MT complex IV, deficiency, nuclear type 9	AR
COA6	614772	MT complex IV deficiency, nuclear type 13	AR
COA7	615623	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	AR
COA8	616003	MT complex IV deficiency, nuclear type 17	AR
COASY	609855	Neurodegeneration with brain iron accumulation 6;Pontocerebellar hypoplasia, type 12	AR
COMT	116790	Panic disorder, susceptibility to;Schizophrenia, susceptibility to	?AD, AD
COQ2	609825	Coenzyme Q10 deficiency, primary, 1;Multiple system atrophy, susceptibility to	AR, AD, AR
COQ4	612898	Coenzyme Q10 deficiency, primary, 7	AR
COQ6	614647	Coenzyme Q10 deficiency, primary, 6	AR
COQ7	601683	?Coenzyme Q10 deficiency, primary, 8	AR
COQ8A	606980	Coenzyme Q10 deficiency, primary, 4	AR
COQ8B	615567	Nephrotic syndrome, type 9	AR
COQ9	612837	Coenzyme Q10 deficiency, primary, 5	AR
COX10	602125	MT complex IV deficiency, nuclear type 3	AR
COX14	614478	?MT complex IV deficiency, nuclear type 10	AR
COX15	603646	MT complex IV deficiency, nuclear type 6	AR
COX20	614698	MT complex IV deficiency, nuclear type 11	AR
COX4I2	607976	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis	AR
COX6A1	602072	Charcot-Marie-Tooth disease, recessive intermediate D	AR
COX6B1	124089	MT complex IV deficiency, nuclear type 7	AR
COX7B	300885	Linear skin defects with multiple congenital anomalies 2	XLD
CPOX	612732	Harderoporphyria;Coproporphyria	AR, AD, AR
CPS1	608307	Carbamoylphosphate synthetase I deficiency;Pulmonary hypertension, neonatal, susceptibility to	AR
CPT1A	600528	CPT deficiency, hepatic, type IA	AR
CPT1C	608846	?Spastic paraplegia 73, AD	AD
CPT2	600650	CPT II deficiency, myopathic, stress-induced;CPT II deficiency, infantile;Encephalopathy, acute, infection-induced, 4, susceptibility to;CPT II deficiency, lethal neonatal	AD, AR, AR
CRBN	609262	Mental retardation, autosomal recessive 2	AR
CYB5A	613218	Methemoglobinemia and ambiguous genitalia	AR
CYB5R3	613213	Methemoglobinemia, type I;Methemoglobinemia, type II	AR
CYC1	123980	MT complex III deficiency, nuclear type 6	AR
CYCS	123970	Thrombocytopenia 4	AD
CYP11A1	118485	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
CYP11B1	610613	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency;Aldosteronism, glucocorticoid-remediable	AR, AD
CYP11B2	124080	Hypoaldosteronism, congenital, due to CMO II deficiency;Hypoaldosteronism, congenital, due to CMO I deficiency	AR
CYP24A1	126065	Hypercalcemia, infantile, 1	AR
CYP27A1	606530	Cerebrotendinous xanthomatosis	AR
CYP27B1	609506	Vitamin D-dependent rickets, type I	AR
D2HGDH	609186	D-2-hydroxyglutaric aciduria	AR
DARS2	610956	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	AR
DBT	248610	Maple syrup urine disease, type II	AR
DGUOK	601465	Portal hypertension, noncirrhotic;Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 4;MT DNA depletion syndrome 3 (hepatocerebral type)	AR
DHCR24	606418	Desmosterolosis	AR
DHODH	126064	Miller syndrome	AR
DHTKD1	614984	2-aminoadipic 2-oxoadipic aciduria;?Charcot-Marie-Tooth disease, axonal, type 2Q	AR, AD
DIABLO	605219	Deafness, AD 64	AD
DLAT	608770	Pyruvate dehydrogenase E2 deficiency	AR
DLD	238331	Dihydrolipoamide dehydrogenase deficiency	AR
DMGDH	605849	Dimethylglycine dehydrogenase deficiency	AR
DNA2	601810	?Seckel syndrome 8;Progressive external ophthalmoplegia with MT DNA deletions, AD 6	AR, AD
DNAJC19	608977	3-methylglutaconic aciduria, type V	AR
DNM1L	603850	Optic atrophy 5;Encephalopathy, lethal, due to defective MT peroxisomal fission 1	AD, AD, AR
EARS2	612799	Combined oxidative phosphorylation deficiency 12	AR
ECHS1	602292	MT short-chain enoyl-CoA hydratase 1 deficiency	AR
ELAC2	605367	Prostate cancer, hereditary, 2, susceptibility to;Combined oxidative phosphorylation deficiency 17	AR
EPHX2	132811	Hypercholesterolemia, familial, due to LDLR defect, modifier of	AD, AR
ETFA	608053	Glutaric acidemia IIA	AR
ETFB	130410	Glutaric acidemia IIB	AR
ETFDH	231675	Glutaric acidemia IIC	AR
ETHE1	608451	Ethylmalonic encephalopathy	AR
FAH	613871	Tyrosinemia, type I	AR
FARS2	611592	Combined oxidative phosphorylation deficiency 14;Spastic paraplegia 77, AR	AR
FASTKD2	612322	Combined oxidative phosphorylation deficiency 44	AR
FBXL4	605654	MT DNA depletion syndrome 13 (encephalomyopathic type)	AR
FDX2	614585	MT myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	AR
FECH	612386	Protoporphyria, erythropoietic, 1	AR
FH	136850	Fumarase deficiency;Leiomyomatosis and renal cell cancer	AR, AD
FKBP10	607063	Osteogenesis imperfecta, type XI;Bruck syndrome 1	AR
FLAD1	610595	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	AR
FOXRED1	613622	MT complex I deficiency, nuclear type 19	AR
FXN	606829	Friedreich ataxia;Friedreich ataxia with retained reflexes	AR
GAMT	601240	Cerebral creatine deficiency syndrome 2	AR
GARS1	600287	Spinal muscular atrophy, infantile, James type;Charcot-Marie-Tooth disease, type 2D;Neuronopathy, distal hereditary motor, type VA	AD
GATM	602360	Cerebral creatine deficiency syndrome 3;Fanconi renotubular syndrome 1	AR, AD
GCDH	608801	Glutaricaciduria, type I	AR
GCSH	238330	?Glycine encephalopathy	AR
GDAP1	606598	Charcot-Marie-Tooth disease, axonal, type 2K;Charcot-Marie-Tooth disease, type 4A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis;Charcot-Marie-Tooth disease, recessive intermediate, A	AD, AR, AR
GFER	600924	Myopathy, MT progressive, with congenital cataract and developmental delay	AR
GFM1	606639	Combined oxidative phosphorylation deficiency 1	AR
GFM2	606544	Combined oxidative phosphorylation deficiency 39	AR
GK	300474	Glycerol kinase deficiency	XLR
GLDC	238300	Glycine encephalopathy	AR
GLRX5	609588	Spasticity, childhood-onset, with hyperglycinemia;Anemia, sideroblastic, 3, pyridoxine-refractory	AR
GLUD1	138130	Hyperinsulinism-hyperammonemia syndrome	AD
GLYCTK	610516	D-glyceric aciduria	AR
GPI	172400	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	AR
GPT2	138210	Neurodevelopmental disorder with microcephaly and spastic paraplegia	AR
GPX1	138320	Hemolytic anemia due to glutathione peroxidase deficiency	AR
GRHPR	604296	Hyperoxaluria, primary, type II	AR
GSR	138300	Hemolytic anemia due to glutathione reductase deficiency	AR
GTPBP3	608536	Combined oxidative phosphorylation deficiency 23	AR
HADH	601609	3-hydroxyacyl-CoA dehydrogenase deficiency;Hyperinsulinemic hypoglycemia, familial, 4	AR
HADHA	600890	HELLP syndrome, maternal, of pregnancy;LCHAD deficiency;Fatty liver, acute, of pregnancy;MT trifunctional protein deficiency	AR
HADHB	143450	Trifunctional protein deficiency	AR
HAMP	606464	Hemochromatosis, type 2B	AR
HARS2	600783	Perrault syndrome 2	AR
HAX1	605998	Neutropenia, severe congenital 3, AR	AR
HCCS	300056	Linear skin defects with multiple congenital anomalies 1	XLD
HIBCH	610690	3-hydroxyisobutryl-CoA hydrolase deficiency	AR
HINT1	601314	Neuromyotonia and axonal neuropathy, AR	AR
HK1	142600	Retinitis pigmentosa 79;Hemolytic anemia due to hexokinase deficiency;Neurodevelopmental disorder with visual defects and brain anomalies;Neuropathy, hereditary motor and sensory, Russe type	AD, AR
HLCS	609018	Holocarboxylase synthetase deficiency	AR
HMBS	609806	Porphyria, acute intermittent;Porphyria, acute intermittent, nonerythroid variant	AD
HMGCL	613898	HMG-CoA lyase deficiency	AR
HMGCS2	600234	HMG-CoA synthase-2 deficiency	AR
HOGA1	613597	Hyperoxaluria, primary, type III	AR
HSD17B10	300256	HSD10 MT disease	XLD
HSD17B4	601860	Perrault syndrome 1;D-bifunctional protein deficiency	AR
HSD3B2	613890	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	AR
HSPA9	600548	Even-plus syndrome;Anemia, sideroblastic, 4	AR, AD
HSPD1	118190	Leukodystrophy, hypomyelinating, 4;Spastic paraplegia 13, AD	AR, AD
HTRA2	606441	Parkinson disease 13;3-methylglutaconic aciduria, type VIII	AR
IARS2	612801	?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	AR
IBA57	615316	?Spastic paraplegia 74, AR;Multiple MT dysfunctions syndrome 3	AR
IDH2	147650	D-2-hydroxyglutaric aciduria 2
IDH3B	604526	Retinitis pigmentosa 46	AR
IFIH1	606951	Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1	AD
ISCA1	611006	Multiple MT dysfunctions syndrome 5	AR
ISCA2	615317	Multiple MT dysfunctions syndrome 4	AR
ISCU	611911	Myopathy with lactic acidosis, hereditary	AR
IVD	607036	Isovaleric acidemia	AR
KARS1	601421	?Charcot-Marie-Tooth disease, recessive intermediate, B;Deafness, congenital, and adult-onset progressive leukoencephalopathy;Leukoencephalopathy, progressive, infantile-onset, with or without deafness;Deafness, autosomal recessive 89	AR
KRT5	148040	Epidermolysis bullosa simplex-MP;Epidermolysis bullosa simplex, Koebner type;Epidermolysis bullosa simplex, recessive 1;Epidermolysis bullosa simplex, Weber-Cockayne type;Epidermolysis bullosa simplex 2B, generalized intermediate;Epidermolysis bullosa simplex 2A, generalized severe;Epidermolysis bullosa simplex-MCR;Dowling-Degos disease 1;Epidermolysis bullosa simplex 2C, localized;Epidermolysis bullosa simplex, Dowling-Meara type;Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, AR	AD, AR
KRT8	148060	Cirrhosis, cryptogenic;Cirrhosis, noncryptogenic, susceptibility to	AR
L2HGDH	609584	L-2-hydroxyglutaric aciduria	AR
LAMP2	309060	Danon disease	XLD
LARS2	604544	?Hydrops, lactic acidosis, and sideroblastic anemia;Perrault syndrome 4	AR
LIAS	607031	Hyperglycinemia, lactic acidosis, and seizures	AR
LIPT1	610284	Lipoyltransferase 1 deficiency	AR
LIPT2	617659	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	AR
LMBRD1	612625	Methylmalonic aciduria and homocystinuria, cblF type	AR
LONP1	605490	CODAS syndrome	AR
LRPPRC	607544	MT complex IV deficiency, nuclear type 5, (French-Canadian)	AR
LYRM7	615831	MT complex III deficiency, nuclear type 8	AR
MAOA	309850	Antisocial behavior;Brunner syndrome	XLR
MARS2	609728	Spastic ataxia 3, AR;?Combined oxidative phosphorylation deficiency 25	AR
MCCC1	609010	3-Methylcrotonyl-CoA carboxylase 1 deficiency	AR
MCCC2	609014	3-Methylcrotonyl-CoA carboxylase 2 deficiency	AR
MCEE	608419	Methylmalonyl-CoA epimerase deficiency	AR
MECR	608205	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	AR
MFF	614785	Encephalopathy due to defective MT and peroxisomal fission 2	AR
MFN2	608507	Hereditary motor and sensory neuropathy VIA;Charcot-Marie-Tooth disease, axonal, type 2A2B;Charcot-Marie-Tooth disease, axonal, type 2A2A	AD, AR
MGME1	615076	MT DNA depletion syndrome 11	AR
MICU1	605084	Myopathy with extrapyramidal signs	AR
MIPEP	602241	Combined oxidative phosphorylation deficiency 31	AR
MLYCD	606761	Malonyl-CoA decarboxylase deficiency	AR
MMAA	607481	Methylmalonic aciduria, vitamin B12-responsive	AR
MMAB	607568	Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	AR
MMACHC	609831	Methylmalonic aciduria and homocystinuria, cblC type	AR
MMADHC	611935	Methylmalonic aciduria and homocystinuria, cblD type;Methylmalonic aciduria, cblD type, variant 2;Homocystinuria, cblD type, variant 1	AR
MMUT	609058	Methylmalonic aciduria, mut(0) type	AR
MOCS1	603707	Molybdenum cofactor deficiency A	AR
MPC1	614738	MT pyruvate carrier deficiency	AR
MPV17	137960	Charcot-Marie-Tooth disease, axonal, type 2EE;MT DNA depletion syndrome 6 (hepatocerebral type)	AR
MRPL3	607118	Combined oxidative phosphorylation deficiency 9	AR
MRPL44	611849	?Combined oxidative phosphorylation deficiency 16	AR
MRPS16	609204	Combined oxidative phosphorylation deficiency 2	AR
MRPS2	611971	Combined oxidative phosphorylation deficiency 36	AR
MRPS22	605810	Ovarian dysgenesis 7;Combined oxidative phosphorylation deficiency 5	AR
MRPS34	611994	Combined oxidative phosphorylation deficiency 32	AR
MSRB3	613719	Deafness, autosomal recessive 74	AR
MSTO1	617619	Myopathy, MT, and ataxia	AD, AR
MT-ATP6
MT-ATP8
MT-CO1
MT-CO2
MT-CO3
MT-CYB
MT-ND1
MT-ND2
MT-ND3
MT-ND4
MT-ND4L
MT-ND5
MT-ND6
MT-RNR1
MT-RNR2
MT-TA
MT-TC
MT-TD
MT-TE
MT-TF
MT-TG
MT-TH
MT-TI
MT-TK
MT-TL1
MT-TL2
MT-TM
MT-TN
MT-TP
MT-TQ
MT-TR
MT-TS1
MT-TS2
MT-TT
MT-TV
MT-TW
MT-TY
MTFMT	611766	Combined oxidative phosphorylation deficiency 15;MT complex I deficiency, nuclear type 27	AR
MTHFD1	172460	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia;Neural tube defects, folate-sensitive, susceptibility to	AR
MTO1	614667	Combined oxidative phosphorylation deficiency 10	AR
MTPAP	613669	?Spastic ataxia 4, AR	AR
MTRR	602568	Homocystinuria-megaloblastic anemia, cbl E type;Neural tube defects, folate-sensitive, susceptibility to	AR
MTRFR	613541	Spastic paraplegia 55, AR;Combined oxidative phosphorylation deficiency 7	AR
NADK2	615787	2,4-dienoyl-CoA reductase deficiency	AR
NAGS	608300	N-acetylglutamate synthase deficiency	AR
NARS2	612803	?Deafness, autosomal recessive 94;Combined oxidative phosphorylation deficiency 24	AR
NAXE	608862	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	AR
NBAS	608025	Short stature, optic nerve atrophy, and Pelger-Huet anomaly;Infantile liver failure syndrome 2	AR
NDUFA1	300078	MT complex I deficiency, nuclear type 12	XLR
NDUFA10	603835	MT complex I deficiency, nuclear type 22	AR
NDUFA11	612638	MT complex I deficiency, nuclear type 14	AR
NDUFA12	614530	?MT complex I deficiency, nuclear type 23	AR
NDUFA2	602137	MT complex I deficiency, nuclear type 13	AR
NDUFA6	602138	MT complex I deficiency, nuclear type 33	AR
NDUFA9	603834	MT complex I deficiency, nuclear type 26	AR
NDUFAF1	606934	MT complex I deficiency, nuclear type 11	AR
NDUFAF2	609653	MT complex I deficiency, nuclear type 10	AR
NDUFAF3	612911	MT complex I deficiency, nuclear type 18	AR
NDUFAF4	611776	MT complex I deficiency, nuclear type 15	AR
NDUFAF5	612360	MT complex I deficiency, nuclear type 16	AR
NDUFAF6	612392	MT complex I deficiency, nuclear type 17;Fanconi renotubular syndrome 5	AR
NDUFB11	300403	Linear skin defects with multiple congenital anomalies 3;?MT complex I deficiency, nuclear type 30	XLD, XL
NDUFB3	603839	MT complex I deficiency, nuclear type 25	AR
NDUFB8	602140	MT complex I deficiency, nuclear type 32	AR
NDUFB9	601445	?MT complex I deficiency, nuclear type 24	AR
NDUFS1	157655	MT complex I deficiency, nuclear type 5	AR
NDUFS2	602985	MT complex I deficiency, nuclear type 6	AR
NDUFS3	603846	MT complex I deficiency, nuclear type 8	AR
NDUFS4	602694	MT complex I deficiency, nuclear type 1	AR
NDUFS6	603848	MT complex I deficiency, nuclear type 9	AR
NDUFS7	601825	MT complex I deficiency, nuclear type 3	AR
NDUFS8	602141	MT complex I deficiency, nuclear type 2	AR
NDUFV1	161015	MT complex I deficiency, nuclear type 4	AR
NDUFV2	600532	MT complex I deficiency, nuclear type 7	AR
NFU1	608100	Multiple MT dysfunctions syndrome 1	AR
NGLY1	610661	Congenital disorder of deglycosylation	AR
NNT	607878	Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency	AR
NR2F1	132890	Bosch-Boonstra-Schaaf optic atrophy syndrome	AD
NTHL1	602656	Familial adenomatous polyposis 3	AR
NUBPL	613621	MT complex I deficiency, nuclear type 21	AR
NUP62	605815	Striatonigral degeneration, infantile	AR
OAT	613349	Gyrate atrophy of choroid and retina with or without ornithinemia	AR
OGDH	613022	Alpha-ketoglutarate dehydrogenase deficiency	AR
OPA1	605290	Optic atrophy 1;?MT DNA depletion syndrome 14 (encephalocardiomyopathic type);Glaucoma, normal tension, susceptibility to;Optic atrophy plus syndrome;Behr syndrome	AD, AR
OPA3	606580	3-methylglutaconic aciduria, type III;Optic atrophy 3 with cataract	AR, AD
OTC	300461	Ornithine transcarbamylase deficiency	XL
OXCT1	601424	Succinyl CoA:3-oxoacid CoA transferase deficiency	AR
P4HB	176790	Cole-Carpenter syndrome 1	AD
PAM16	614336	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type	AR
PANK2	606157	HARP syndrome;Neurodegeneration with brain iron accumulation 1	AR
PARK7	602533	Parkinson disease 7, autosomal recessive early-onset	AR
PARS2	612036	Developmental and epileptic encephalopathy 75	AR
PC	608786	Pyruvate carboxylase deficiency	AR
PCCA	232000	Propionicacidemia	AR
PCCB	232050	Propionicacidemia	AR
PCK2	614095	PEPCK deficiency, MT	AR
PDHA1	300502	Pyruvate dehydrogenase E1-alpha deficiency	XLD
PDHB	179060	Pyruvate dehydrogenase E1-beta deficiency	AR
PDHX	608769	Lacticacidemia due to PDX1 deficiency	AR
PDK3	300906	?Charcot-Marie-Tooth disease, XLD, 6	XLD
PDP1	605993	Pyruvate dehydrogenase phosphatase deficiency	AR
PDSS1	607429	Coenzyme Q10 deficiency, primary, 2	AR
PDSS2	610564	Coenzyme Q10 deficiency, primary, 3	AR
PDX1	600733	Pancreatic agenesis 1;MODY, type IV;Diabetes mellitus, type II, susceptibility to	AR, AD
PET100	614770	MT complex IV deficiency, nuclear type 12	AR
PEX11B	603867	Peroxisome biogenesis disorder 14B	AR
PHYH	602026	Refsum disease	AR
PINK1	608309	Parkinson disease 6, early onset	AR
PKLR	609712	Adenosine triphosphate, elevated, of erythrocytes;Pyruvate kinase deficiency	AD, AR
PMPCA	613036	Spinocerebellar ataxia, autosomal recessive 2	AR
PMPCB	603131	Multiple MT dysfunctions syndrome 6	AR
PNKD	609023	Paroxysmal nonkinesigenic dyskinesia 1	AD
PNPLA8	612123	?MT myopathy with lactic acidosis	AR
PNPO	603287	Pyridoxamine 5'-phosphate oxidase deficiency	AR
PNPT1	610316	Deafness, autosomal recessive 70;Combined oxidative phosphorylation deficiency 13	AR
POLG	174763	Progressive external ophthalmoplegia, autosomal recessive 1;Progressive external ophthalmoplegia, AD 1;MT recessive ataxia syndrome (includes SANDO and SCAE);MT DNA depletion syndrome 4B (MNGIE type);MT DNA depletion syndrome 4A (Alpers type)	AR, AD
POLG2	604983	MT DNA depletion syndrome 16 (hepatic type);?MT DNA depletion syndrome 16B (neuroophthalmic type);Progressive external ophthalmoplegia with MT DNA deletions, AD 4	AR, AD
POP1	602486	Anauxetic dysplasia 2	AR
PPOX	600923	Porphyria variegata	AD
PRODH	606810	Schizophrenia, susceptibility to, 4;Hyperprolinemia, type I	AD, AR
PSAP	176801	Combined SAP deficiency;Gaucher disease, atypical;Krabbe disease, atypical;Parkinson disease 24, AD, susceptibility to;Metachromatic leukodystrophy due to SAP-b deficiency	AR, AD
PTRH2	608625	Infantile-onset multisystem neurologic, endocrine, and pancreatic disease	AR
PTS	612719	Hyperphenylalaninemia, BH4-deficient, A	AR
PUS1	608109	Myopathy, lactic acidosis, and sideroblastic anemia 1	AR
PYCR1	179035	Cutis laxa, autosomal recessive, type IIB;Cutis laxa, autosomal recessive, type IIIB	AR
PYCR2	616406	Leukodystrophy, hypomyelinating, 10	AR
QDPR	612676	Hyperphenylalaninemia, BH4-deficient, C	AR
RARS1	107820	Leukodystrophy, hypomyelinating, 9	AR
RARS2	611524	Pontocerebellar hypoplasia, type 6	AR
RDH11	607849	?Retinal dystrophy, juvenile cataracts, and short stature syndrome	AR
RMND1	614917	Combined oxidative phosphorylation deficiency 11	AR
RNASEH1	604123	Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 2	AR
RNASEH2A	606034	Aicardi-Goutieres syndrome 4	AR
RNASEH2B	610326	Aicardi-Goutieres syndrome 2	AR
RNASEH2C	610330	Aicardi-Goutieres syndrome 3	AR
RPIA	180430	Ribose 5-phosphate isomerase deficiency	AR
RPL35A	180468	Diamond-Blackfan anemia 5	AD
RPS14	130620	Macrocytic anemia, refractory, due to 5q deletion, somatic
RRM2B	604712	MT DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy);Progressive external ophthalmoplegia with MT DNA deletions, AD 5;MT DNA depletion syndrome 8B (MNGIE type)	AR, AD
SACS	604490	Spastic ataxia, Charlevoix-Saguenay type	AR
SARS2	612804	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis	AR
SBDS	607444	Aplastic anemia, susceptibility to;Shwachman-Diamond syndrome	AR
SCN1A	182389	Epilepsy, generalized, with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3;Developmental and epileptic encephalopathy 6B, non-Dravet;Febrile seizures, familial, 3A;Dravet syndrome	AD
SCO1	603644	MT complex IV deficiency, nuclear type 4	AR
SCO2	604272	Myopia 6;MT complex IV deficiency, nuclear type 2	AD, AR
SDHA	600857	Neurodegeneration with ataxia and late-onset optic atrophy;Cardiomyopathy, dilated, 1GG;Leigh syndrome;MT respiratory chain complex II deficiency;Paragangliomas 5	AD, AR, AR, MT
SDHAF1	612848	MT complex II deficiency, nuclear type 2;MT complex II deficiency	AR
SDHAF2	613019	Paragangliomas 2	AD
SDHD	602690	MT complex II deficiency;Paraganglioma and gastric stromal sarcoma;Paragangliomas 1, with or without deafness;MT complex II deficiency, nuclear type 3;Pheochromocytoma	AR, AD
SECISBP2	607693	Thyroid hormone metabolism, abnormal	AR
SERAC1	614725	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	AR
SFXN4	615564	Combined oxidative phosphorylation deficiency 18	AR
SLC16A1	600682	Hyperinsulinemic hypoglycemia, familial, 7;Erythrocyte lactate transporter defect;Monocarboxylate transporter 1 deficiency	AD, AD, AR
SLC19A2	603941	Thiamine-responsive megaloblastic anemia syndrome	AR
SLC19A3	606152	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)	AR
SLC22A5	603377	Carnitine deficiency, systemic primary	AR
SLC25A1	190315	Myasthenic syndrome, congenital, 23, presynaptic;Combined D-2- and L-2-hydroxyglutaric aciduria	AR
SLC25A12	603667	Developmental and epileptic encephalopathy 39	AR
SLC25A13	603859	Citrullinemia, type II, neonatal-onset;Citrullinemia, adult-onset type II	AR
SLC25A15	603861	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	AR
SLC25A19	606521	Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type);Microcephaly, Amish type	AR
SLC25A20	613698	Carnitine-acylcarnitine translocase deficiency	AR
SLC25A22	609302	Developmental and epileptic encephalopathy 3	AR
SLC25A26	611037	Combined oxidative phosphorylation deficiency 28	AR
SLC25A3	600370	MT phosphate carrier deficiency	AR
SLC25A38	610819	Anemia, sideroblastic, 2, pyridoxine-refractory	AR
SLC25A4	103220	MT DNA depletion syndrome 12B (cardiomyopathic type) AR;MT DNA depletion syndrome 12A (cardiomyopathic type) AD;Progressive external ophthalmoplegia with MT DNA deletions, AD 2	AR, AD
SLC25A42	610823	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	AR
SLC25A46	610826	Neuropathy, hereditary motor and sensory, type VIB;Pontocerebellar hypoplasia, type 1E	AR
SLC39A8	608732	Congenital disorder of glycosylation, type IIn	AR
SLC52A2	607882	Brown-Vialetto-Van Laere syndrome 2	AR
SLC6A8	300036	Cerebral creatine deficiency syndrome 1	XLR
SLC9A6	300231	Mental retardation, X-linked syndromic, Christianson type	XL
SNAP29	604202	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	AR
SOD1	147450	Spastic tetraplegia and axial hypotonia, progressive;Amyotrophic lateral sclerosis 1	AR, AD, AR
SOD2	147460	Microvascular complications of diabetes 6
SPAST	604277	Spastic paraplegia 4, AD	AD
SPG7	602783	Spastic paraplegia 7, AR	AD, AR
SPR	182125	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	?AD, AR
SPTLC2	605713	Neuropathy, hereditary sensory and autonomic, type IC	AD
STAR	600617	Lipoid adrenal hyperplasia	AR
STAT2	600556	Pseudo-TORCH syndrome 3;Immunodeficiency 44	AR
STXBP1	602926	Developmental and epileptic encephalopathy 4	AD
SUCLA2	603921	MT DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	AR
SUCLG1	611224	MT DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)	AR
SUGCT	609187	Glutaric aciduria III	AR
SUOX	606887	Sulfite oxidase deficiency	AR
SURF1	185620	Charcot-Marie-Tooth disease, type 4K;MT complex IV deficiency, nuclear type 1	AR
TACO1	612958	MT complex IV deficiency, nuclear type 8	AR
TAFAZZIN	300394	Barth syndrome	XLR
TANGO2	616830	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	AR
TCIRG1	604592	Osteopetrosis, autosomal recessive 1	AR
TFR2	604720	Hemochromatosis, type 3	AR
TIMM50	607381	3-methylglutaconic aciduria, type IX	AR
TIMM8A	300356	Mohr-Tranebjaerg syndrome	XLR
TIMMDC1	615534	MT complex I deficiency, nuclear type 31	AR
TK2	188250	MT DNA depletion syndrome 2 (myopathic type);?Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 3	AR
TMEM126A	612988	Optic atrophy 7	AR
TMEM126B	615533	MT complex I deficiency, nuclear type 29	AR
TMEM70	612418	MT complex V (ATP synthase) deficiency, nuclear type 2	AR
TMLHE	300777	Autism, susceptibility to, X-linked 6	XLR
TOP3A	601243	Microcephaly, growth restriction, and increased sister chromatid exchange 2;?Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 5	AR
TPI1	190450	Hemolytic anemia due to triosephosphate isomerase deficiency	AR
TPK1	606370	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	AR
TREX1	606609	Aicardi-Goutieres syndrome 1, dominant and recessive;Chilblain lupus;Vasculopathy, retinal, with cerebral leukodystrophy;Systemic lupus erythematosus, susceptibility to	AD, AR, AD
TRIT1	617840	Combined oxidative phosphorylation deficiency 35	AR
TRMT10C	615423	Combined oxidative phosphorylation deficiency 30	AR
TRMT5	611023	Combined oxidative phosphorylation deficiency 26	AR
TRMU	610230	Liver failure, transient infantile;Deafness, MT, modifier of	AR, MT
TRNT1	612907	Retinitis pigmentosa and erythrocytic microcytosis;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	AR
TSFM	604723	Combined oxidative phosphorylation deficiency 3	AR
TTC19	613814	MT complex III deficiency, nuclear type 2	AR
TUBB3	602661	Cortical dysplasia, complex, with other brain malformations 1;Fibrosis of extraocular muscles, congenital, 3A	AD
TUFM	602389	Combined oxidative phosphorylation deficiency 4	AR
TWNK	606075	Progressive external ophthalmoplegia with MT DNA deletions, AD 3;Perrault syndrome 5;MT DNA depletion syndrome 7 (hepatocerebral type)	AD, AR
TYMP	131222	MT DNA depletion syndrome 1 (MNGIE type)	AR
UNG	191525	Immunodeficiency with hyper IgM, type 5	AR
UQCC2	614461	MT complex III deficiency, nuclear type 7	AR
UQCRB	191330	MT complex III deficiency, nuclear type 3	AR
UQCRC2	191329	MT complex III deficiency, nuclear type 5	AR
UQCRQ	612080	MT complex III deficiency, nuclear type 4	AR
VARS2	612802	Combined oxidative phosphorylation deficiency 20	AR
WARS2	604733	Neurodevelopmental disorder, MT, with abnormal movements and lactic acidosis, with or without seizures;Parkinsonism-dystonia 3, childhood-onset	AR
WDR45	300526	Neurodegeneration with brain iron accumulation 5	XLD
WDR81	614218	Hydrocephalus, congenital, 3, with brain anomalies;Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	AR
WFS1	606201	?Cataract 41;Wolfram-like syndrome, AD;Wolfram syndrome 1;Diabetes mellitus, noninsulin-dependent, association with;Deafness, AD 6/14/38	AD, AR
XPNPEP3	613553	Nephronophthisis-like nephropathy 1	AR
YARS2	610957	Myopathy, lactic acidosis, and sideroblastic anemia 2	AR

Common syndromes and disorders covered

Chronic progressive external ophthalmoplegia
Kearns-Sayre syndrome
Leigh’s syndrome and maternally inherited Leigh’s syndrome
Mitochondrial disorders
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Myoclonus epilepsy with ragged red fibers
Myogastrointestinal encephalomyopathy
NARP
Neonatal mitochondrial hepatopathies
Pearson syndrome

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CENTOGENE Productsheet Pediatric Neurology English PDF

Pediatric Neurology Panels – Product Sheet

A targeted approach for testing neurological disorders

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CentoMito Genome

CentoMito Genome includes mitochondrial genes. Nuclear mitochondrial genes are not included.

No. of genes:	37
TAT:	25 days
Coverage:	≥97% ≥200x
Details:	≥5% mitochondrial heteroplasmy can be confidently detected

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
MT-ND1
MT-ND2
MT-CO1
MT-CO2
MT-ATP8
MT-ATP6
MT-CO3
MT-ND3
MT-ND4L
MT-ND4
MT-ND5
MT-ND6
MT-CYB
MT-TF
MT-RNR1
MT-TV
MT-RNR2
MT-TL1
MT-TI
MT-TQ
MT-TM
MT-TW
MT-TA
MT-TN
MT-TC
MT-TY
MT-TS1
MT-TD
MT-TK
MT-TG
MT-TR
MT-TH
MT-TS2
MT-TL2
MT-TE
MT-TT
MT-TP

Common syndromes and disorders covered

Chronic progressive external ophthalmoplegia
Kearns-Sayre syndrome
Leber hereditary optic neuropathy
Leigh-like syndrome
Leigh syndrome
Mitochondrial disorders
NARP

Available Downloads

Pediatric Neurology Panels – Product Sheet

A targeted approach for testing neurological disorders

Download EN

CentoNeuro

CentoNeuro is our largest panel – designed to detect a great array of neurological disorders from neonatal ICU cases to dementia or movement disorders in adults. This panel includes genes related to neurological diseases, such as amyotrophic lateral sclerosis, dementia, Parkinson´s, neuromuscular diseases, Charcot-Marie-Tooth, dystonia, epilepsy, autism, intellectual disability, migraine, spastic paraplegia, ataxia, Leigh syndrome, peroxisomal diseases, epileptic encephalopathies, and movement disorders, among others. Limitations: DMD is only analyzed by NGS. If there is high diagnostic suspicion for Duchenne muscular dystrophy, we recommend that the clinician orders deletion/duplication analysis by MLPA targeted to the DMD gene as an additional service.

No. of genes:	1902
TAT:	25 days
Coverage:	≥99.0% ≥20x
Details:	CNV analysis included

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
AAAS	605378	Achalasia-addisonianism-alacrimia syndrome	AR
AARS1	601065	Trichothiodystrophy 8, nonphotosensitive;Charcot-Marie-Tooth disease, axonal, type 2N;Developmental and epileptic encephalopathy 29;?Leukoencephalopathy, hereditary diffuse, with spheroids 2	AR, AD
AARS2	612035	Combined oxidative phosphorylation deficiency 8;Leukoencephalopathy, progressive, with ovarian failure	AR
AASS	605113	Hyperlysinemia	AR
ABAT	137150	GABA-transaminase deficiency	AR
ABCA1	600046	HDL deficiency, familial, 1;Tangier disease	AD, AR
ABCA7	605414	Alzheimer disease 9, susceptibility to	AD
ABCB6	605452	Microphthalmia, isolated, with coloboma 7;[Blood group, Langereis system];Dyschromatosis universalis hereditaria 3;Pseudohyperkalemia, familial, 2, due to red cell leak	AD
ABCB7	300135	Anemia, sideroblastic, with ataxia	XLR
ABCC6	603234	Pseudoxanthoma elasticum, forme fruste;Arterial calcification, generalized, of infancy, 2;Pseudoxanthoma elasticum	AD, AR
ABCC8	600509	Diabetes mellitus, transient neonatal 2;Diabetes mellitus, noninsulin-dependent;Hyperinsulinemic hypoglycemia, familial, 1;Hypoglycemia of infancy, leucine-sensitive;Diabetes mellitus, permanent neonatal 3, with or without neurologic features	AD, AD, AR
ABCD1	300371	Adrenoleukodystrophy;Adrenomyeloneuropathy, adult	XLR
ABCD3	170995	?Bile acid synthesis defect, congenital, 5	AR
ABCD4	603214	Methylmalonic aciduria and homocystinuria, cblJ type	AR
ABHD12	613599	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	AR
ABHD5	604780	Chanarin-Dorfman syndrome	AR
ACACA	200350	Acetyl-CoA carboxylase deficiency	AR
ACAD8	604773	Isobutyryl-CoA dehydrogenase deficiency	AR
ACAD9	611103	MT complex I deficiency, nuclear type 20	AR
ACADM	607008	Acyl-CoA dehydrogenase, medium chain, deficiency of	AR
ACADS	606885	Acyl-CoA dehydrogenase, short-chain, deficiency of	AR
ACADSB	600301	2-methylbutyrylglycinuria	AR
ACADVL	609575	VLCAD deficiency	AR
ACAT1	607809	Alpha-methylacetoacetic aciduria	AR
ACE	106180	Microvascular complications of diabetes 3;Stroke, hemorrhagic;Renal tubular dysgenesis	AR
ACHE	100740	[Blood group, Yt system]
ACO2	100850	?Optic atrophy 9;Infantile cerebellar-retinal degeneration	AR
ACOX1	609751	Peroxisomal acyl-CoA oxidase deficiency;Mitchell syndrome	AR, AD
ACSF3	614245	Combined malonic and methylmalonic aciduria
ACSL4	300157	Mental retardation, X-linked 63	XLD
ACTA1	102610	Nemaline myopathy 3, AD or recessive;?Myopathy, scapulohumeroperoneal;Myopathy, congenital, with fiber-type disproportion 1;Myopathy, actin, congenital, with cores;Myopathy, actin, congenital, with excess of thin myofilaments	AD, AR, AD
ACTA2	102620	Aortic aneurysm, familial thoracic 6;Moyamoya disease 5;Multisystemic smooth muscle dysfunction syndrome	AD
ACTB	102630	Baraitser-Winter syndrome 1;?Dystonia, juvenile-onset	AD
ACTG1	102560	Baraitser-Winter syndrome 2;Deafness, AD 20/26	AD
ACTG2	102545	Visceral myopathy;Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	AD
ACTL6B	612458	Developmental and epileptic encephalopathy 76;Intellectual developmental disorder with severe speech and ambulation defects	AR, AD
ACTN4	604638	Glomerulosclerosis, focal segmental, 1	AD
ACVRL1	601284	Telangiectasia, hereditary hemorrhagic, type 2	AD
ACY1	104620	Aminoacylase 1 deficiency	AR
ADA	608958	Adenosine deaminase deficiency, partial;Severe combined immunodeficiency due to ADA deficiency	AR, SM
ADAM10	602192	Alzheimer disease 18, susceptibility to;Reticulate acropigmentation of Kitamura	AD
ADAM22	603709	?Developmental and epileptic encephalopathy 61	AR
ADAMTS10	608990	Weill-Marchesani syndrome 1, recessive	AR
ADAMTSL2	612277	Geleophysic dysplasia 1	AR
ADAR	146920	Aicardi-Goutieres syndrome 6;Dyschromatosis symmetrica hereditaria	AR, AD
ADAT3	615302	Mental retardation, autosomal recessive 36	AR
ADCY5	600293	Dyskinesia with orofacial involvement, AR;Neurodevelopmental disorder with hyperkinetic movements and dyskinesia;Dyskinesia, familial, with facial myokymia	AR, AD
ADGRG1	604110	Polymicrogyria, bilateral perisylvian;Polymicrogyria, bilateral frontoparietal	AR
ADGRG6	612243	Lethal congenital contracture syndrome 9	AR
ADGRV1	602851	Usher syndrome, type 2C;?Febrile seizures, familial, 4;Usher syndrome, type 2C, GPR98/PDZD7 digenic	AR, DD, AD
ADK	102750	Hypermethioninemia due to adenosine kinase deficiency	AR
ADNP	611386	Helsmoortel-van der Aa syndrome	AD
ADPRS	610624	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	AR
ADSL	608222	Adenylosuccinase deficiency	AR
AFF2	300806	Mental retardation, X-linked, FRAXE type	XLR
AFF3	601464	KINSSHIP syndrome	AD
AFG3L2	604581	Spinocerebellar ataxia 28;Spastic ataxia 5, AR;Optic atrophy 12	AD, AR
AGA	613228	Aspartylglucosaminuria	AR
AGK	610345	Sengers syndrome;Cataract 38, AR	AR
AGL	610860	Glycogen storage disease IIIb;Glycogen storage disease IIIa	AR
AGPS	603051	Rhizomelic chondrodysplasia punctata, type 3	AR
AGRN	103320	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects	AR
AGTPBP1	606830	Neurodegeneration, childhood-onset, with cerebellar atrophy	AR
AGXT	604285	Hyperoxaluria, primary, type 1	AR
AHCY	180960	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	AR
AHDC1	615790	Xia-Gibbs syndrome	AD
AHI1	608894	Joubert syndrome 3	AR
AIFM1	300169	Cowchock syndrome;Combined oxidative phosphorylation deficiency 6;Deafness, X-linked 5;Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy	XLR
AIMP1	603605	Leukodystrophy, hypomyelinating, 3	AR
AIMP2	600859	Leukodystrophy, hypomyelinating, 17	AR
AK2	103020	Reticular dysgenesis	AR
AKT3	611223	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	AD
ALAD	125270	Porphyria, acute hepatic;Lead poisoning, susceptibility to	AR
ALAS2	301300	Protoporphyria, erythropoietic, X-linked;Anemia, sideroblastic, 1	XL, XLR
ALDH18A1	138250	Cutis laxa, AD 3;Cutis laxa, autosomal recessive, type IIIA;Spastic paraplegia 9B, AR;Spastic paraplegia 9A, AD	AD, AR
ALDH2	100650	Alcohol sensitivity, acute;Hangover, susceptibility to	AD
ALDH3A2	609523	Sjogren-Larsson syndrome	AR
ALDH4A1	606811	Hyperprolinemia, type II	AR
ALDH5A1	610045	Succinic semialdehyde dehydrogenase deficiency	AR
ALDH6A1	603178	Methylmalonate semialdehyde dehydrogenase deficiency	AR
ALDH7A1	107323	Epilepsy, pyridoxine-dependent	AR
ALDOA	103850	Glycogen storage disease XII	AR
ALDOB	612724	Fructose intolerance, hereditary	AR
ALG1	605907	Congenital disorder of glycosylation, type Ik	AR
ALG11	613666	Congenital disorder of glycosylation, type Ip	AR
ALG12	607144	Congenital disorder of glycosylation, type Ig	AR
ALG13	300776	?Congenital disorder of glycosylation, type Is;Developmental and epileptic encephalopathy 36	XL
ALG14	612866	Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies;?Myasthenic syndrome, congenital, 15, without tubular aggregates;Myopathy, epilepsy, and progressive cerebral atrophy	AR
ALG2	607905	?Congenital disorder of glycosylation, type Ii;Myasthenic syndrome, congenital, 14, with tubular aggregates	AR
ALG3	608750	Congenital disorder of glycosylation, type Id	AR
ALG6	604566	Congenital disorder of glycosylation, type Ic	AR
ALG8	608103	Polycystic liver disease 3 with or without kidney cysts;Congenital disorder of glycosylation, type Ih	AD, AR
ALG9	606941	Congenital disorder of glycosylation, type Il;Gillessen-Kaesbach-Nishimura syndrome	AR
ALPL	171760	Hypophosphatasia, infantile;Odontohypophosphatasia;Hypophosphatasia, childhood;Hypophosphatasia, adult	AR, AD, AR
ALS2	606352	Amyotrophic lateral sclerosis 2, juvenile;Spastic paralysis, infantile onset ascending;Primary lateral sclerosis, juvenile	AR
ALX1	601527	Frontonasal dysplasia 3	AR
ALX3	606014	Frontonasal dysplasia 1	AR
ALX4	605420	Craniosynostosis 5, susceptibility to;Parietal foramina 2;Frontonasal dysplasia 2	AD, AR
AMACR	604489	Bile acid synthesis defect, congenital, 4;Alpha-methylacyl-CoA racemase deficiency	AR
AMMECR1	300195	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	XLR
AMPD1	102770	Myopathy due to myoadenylate deaminase deficiency	AR
AMPD2	102771	?Spastic paraplegia 63;Pontocerebellar hypoplasia, type 9	AR
AMT	238310	Glycine encephalopathy	AR
ANG	105850	Amyotrophic lateral sclerosis 9
ANK2	106410	Long QT syndrome 4;Cardiac arrhythmia, ankyrin-B-related	AD
ANK3	600465	Mental retardation, autosomal recessive, 37	AR
ANKLE2	616062	Microcephaly 16, primary, AR	AR
ANKRD11	611192	KBG syndrome	AD
ANO10	613726	Spinocerebellar ataxia, autosomal recessive 10	AR
ANO3	610110	Dystonia 24	AD
ANO5	608662	Gnathodiaphyseal dysplasia;Muscular dystrophy, limb-girdle, autosomal recessive 12;Miyoshi muscular dystrophy 3	AD, AR
ANTXR2	608041	Hyaline fibromatosis syndrome	AR
ANXA11	602572	Amytrophic lateral sclerosis 23;Inclusion body myopathy and brain white matter abnormalities	AD
AP1S1	603531	MEDNIK syndrome	AR
AP1S2	300629	Mental retardation, X-linked syndromic 5	XLR
AP2M1	601024	Intellectual developmental disorder 60 with seizures	AD
AP3B1	603401	Hermansky-Pudlak syndrome 2	AR
AP3B2	602166	Developmental and epileptic encephalopathy 48	AR
AP4B1	607245	Spastic paraplegia 47, AR	AR
AP4E1	607244	Stuttering, familial persistent, 1;Spastic paraplegia 51, AR	AD, AR
AP4M1	602296	Spastic paraplegia 50, AR	AR
AP4S1	607243	Spastic paraplegia 52, AR	AR
AP5Z1	613653	Spastic paraplegia 48, AR	AR
APOE	107741	Sea-blue histiocyte disease;Lipoprotein glomerulopathy;?Alzheimer disease, protection against, due to APOE3-Christchurch;Hyperlipoproteinemia, type III;Coronary artery disease, severe, susceptibility to;?Macular degeneration, age-related;Alzheimer disease 2	AR, AD
APP	104760	Alzheimer disease 1, familial;Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants	AD
APTX	606350	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	AR
ARFGEF2	605371	Periventricular heterotopia with microcephaly	AR
ARG1	608313	Argininemia	AR
ARHGAP31	610911	Adams-Oliver syndrome 1	AD
ARHGEF10	608136	?Slowed nerve conduction velocity, AD	AD
ARHGEF6	300267
ARHGEF9	300429	Developmental and epileptic encephalopathy 8	XL
ARID1A	603024	Coffin-Siris syndrome 2	AD
ARID1B	614556	Coffin-Siris syndrome 1	AD
ARID2	609539	Coffin-Siris syndrome 6	AD
ARL13B	608922	Joubert syndrome 8	AR
ARL6	608845	Retinitis pigmentosa 55;Bardet-Biedl syndrome 1, modifier of;Bardet-Biedl syndrome 3	AR, AR, DR
ARL6IP1	607669	?Spastic paraplegia 61, AR	AR
ARSA	607574	Metachromatic leukodystrophy	AR
ARSB	611542	Mucopolysaccharidosis type VI (Maroteaux-Lamy)	AR
ARSL	300180	Chondrodysplasia punctata, XLR	XLR
ARV1	611647	Developmental and epileptic encephalopathy 38	AR
ARX	300382	Developmental and epileptic encephalopathy 1;Mental retardation, X-linked 29 and others;Hydranencephaly with abnormal genitalia;Partington syndrome;Lissencephaly, X-linked 2;Proud syndrome	XLR, XL
ASAH1	613468	Spinal muscular atrophy with progressive myoclonic epilepsy;Farber lipogranulomatosis	AR
ASCC1	614215	Spinal muscular atrophy with congenital bone fractures 2;Barrett esophagus/esophageal adenocarcinoma	AR
ASCL1	100790	Central hypoventilation syndrome, congenital;Haddad syndrome	AD
ASH1L	607999	Mental retardation, AD 52	AD
ASL	608310	Argininosuccinic aciduria	AR
ASNS	108370	Asparagine synthetase deficiency	AR
ASPA	608034	Canavan disease	AR
ASPM	605481	Microcephaly 5, primary, AR	AR
ASS1	603470	Citrullinemia	AR
ASTN2	612856
ASXL1	612990	Bohring-Opitz syndrome;Myelodysplastic syndrome, somatic	AD
ASXL3	615115	Bainbridge-Ropers syndrome	AD
ATAD1	614452	Hyperekplexia 4	AR
ATCAY	608179	Ataxia, cerebellar, Cayman type	AR
ATIC	601731	AICA-ribosiduria due to ATIC deficiency	AR
ATL1	606439	Spastic paraplegia 3A, AD;Neuropathy, hereditary sensory, type ID	AD
ATM	607585	Breast cancer, susceptibility to;Ataxia-telangiectasia	AD, SM, AR
ATN1	607462	Dentatorubral-pallidoluysian atrophy;Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	AD
ATP13A2	610513	Spastic paraplegia 78, AR;Kufor-Rakeb syndrome	AR
ATP1A1	182310	Hypomagnesemia, seizures, and mental retardation 2;Charcot-Marie-Tooth disease, axonal, type 2DD	AD
ATP1A2	182340	Developmental and epileptic encephalopathy 98;Alternating hemiplegia of childhood 1;Migraine, familial basilar;Migraine, familial hemiplegic, 2;Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	AD, AR
ATP1A3	182350	Alternating hemiplegia of childhood 2;Dystonia-12;Developmental and epileptic encephalopathy 99;CAPOS syndrome	AD
ATP2A1	108730	Brody myopathy	AR
ATP2A2	108740	Acrokeratosis verruciformis;Darier disease	AD
ATP2B3	300014	?Spinocerebellar ataxia, X-linked 1	XLR
ATP2B4	108732
ATP5F1A	164360	?MT complex V (ATP synthase) deficiency, nuclear type 4;?Combined oxidative phosphorylation deficiency 22	AR
ATP5F1E	606153	?MT complex V (ATP synthase) deficiency, nuclear type 3	AR
ATP6AP1	300197	Immunodeficiency 47	XLR
ATP6AP2	300556	Mental retardation, X-linked, syndromic, Hedera type;?Parkinsonism with spasticity, X-linked;Congenital disorder of glycosylation, type IIr	XLR
ATP6V0A2	611716	Cutis laxa, autosomal recessive, type IIA;Wrinkly skin syndrome	AR
ATP6V1A	607027	Epileptic encephalopathy, infantile or early childhood, 3;Cutis laxa, autosomal recessive, type IID	AD, AR
ATP7A	300011	Menkes disease;Occipital horn syndrome;Spinal muscular atrophy, distal, X-linked 3	XLR
ATP7B	606882	Wilson disease	AR
ATP8A2	605870	?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4	AR
ATPAF2	608918	?MT complex V (ATP synthase) deficiency, nuclear type 1	AR
ATR	601215	?Cutaneous telangiectasia and cancer syndrome, familial;Seckel syndrome 1	AD, AR
ATRX	300032	Mental retardation-hypotonic facies syndrome, X-linked;Alpha-thalassemia/mental retardation syndrome;Alpha-thalassemia myelodysplasia syndrome, somatic	XLR, XLD
AUH	600529	3-methylglutaconic aciduria, type I	AR
AUTS2	607270	Mental retardation, AD 26	AD
B3GALNT2	610194	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11	AR
B3GLCT	610308	Peters-plus syndrome	AR
B4GALNT1	601873	Spastic paraplegia 26, AR	AR
B4GALT1	137060	Congenital disorder of glycosylation, type IId	AR
B4GAT1	605517	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13	AR
B9D1	614144	?Meckel syndrome 9;Joubert syndrome 27	AR
B9D2	611951	?Meckel syndrome 10;Joubert syndrome 34	AR
BAG3	603883	Cardiomyopathy, dilated, 1HH;Myopathy, myofibrillar, 6	AD
BBS1	209901	Bardet-Biedl syndrome 1	AR, DR
BBS10	610148	Bardet-Biedl syndrome 10	AR
BBS12	610683	Bardet-Biedl syndrome 12	AR
BBS2	606151	Bardet-Biedl syndrome 2;Retinitis pigmentosa 74	AR
BBS4	600374	Bardet-Biedl syndrome 4	AR
BBS5	603650	Bardet-Biedl syndrome 5	AR
BBS7	607590	Bardet-Biedl syndrome 7	AR
BBS9	607968	Bardet-Biedl syndrome 9	AR
BCAP31	300398	Deafness, dystonia, and cerebral hypomyelination	XLR
BCKDHA	608348	Maple syrup urine disease, type Ia	AR
BCKDHB	248611	Maple syrup urine disease, type Ib	AR
BCKDK	614901	Branched-chain ketoacid dehydrogenase kinase deficiency
BCL11A	606557	Dias-Logan syndrome	AD
BCOR	300485	Microphthalmia, syndromic 2	XLD
BCS1L	603647	GRACILE syndrome;Bjornstad syndrome;MT complex III deficiency, nuclear type 1	AR
BDNF	113505
BEST1	607854	Macular dystrophy, vitelliform, 2;Retinitis pigmentosa-50;?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2;Vitreoretinochoroidopathy;Bestrophinopathy, AR;Retinitis pigmentosa, concentric	AD
BICD2	609797	Spinal muscular atrophy, lower extremity-predominant, 2A, AD;Spinal muscular atrophy, lower extremity-predominant, 2B, AD	AD
BIN1	601248	Centronuclear myopathy 2	AR
BLOC1S1	601444
BLOC1S3	609762	Hermansky-Pudlak syndrome 8	AR
BLOC1S6	604310	?Hermansky-pudlak syndrome 9	AR
BOLA3	613183	Multiple MT dysfunctions syndrome 2 with hyperglycinemia	AR
BRAF	164757	Cardiofaciocutaneous syndrome;Adenocarcinoma of lung, somatic;Noonan syndrome 7;Colorectal cancer, somatic;Melanoma, malignant, somatic,;LEOPARD syndrome 3	AD
BRAT1	614506	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures;Rigidity and multifocal seizure syndrome, lethal neonatal	AR
BRWD3	300553	Mental retardation, X-linked 93	XLR
BSCL2	606158	Lipodystrophy, congenital generalized, type 2;Encephalopathy, progressive, with or without lipodystrophy;Silver spastic paraplegia syndrome;Neuropathy, distal hereditary motor, type VC	AR, AD
BSND	606412	Bartter syndrome, type 4a;Sensorineural deafness with mild renal dysfunction	AR
BTD	609019	Biotinidase deficiency	AR
BVES	604577	Muscular dystrophy, limb-girdle, autosomal recessive 25	AR
C1QBP	601269	Combined oxidative phosphorylation deficiency 33	AR
CA2	611492	Osteopetrosis, autosomal recessive 3, with renal tubular acidosis	AR
CA5A	114761	Hyperammonemia due to carbonic anhydrase VA deficiency	AR
CA8	114815	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3	AR
CACNA1A	601011	Episodic ataxia, type 2;Migraine, familial hemiplegic, 1;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia;Spinocerebellar ataxia 6;Developemental and epileptic encephalopathy 42	AD
CACNA1B	601012	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	AR
CACNA1C	114205	Long QT syndrome 8;Brugada syndrome 3;Timothy syndrome	AD
CACNA1D	114206	Primary aldosteronism, seizures, and neurologic abnormalities;Sinoatrial node dysfunction and deafness	AD, AR
CACNA1E	601013	Developmental and epileptic encephalopathy 69	AD
CACNA1F	300110	Aland Island eye disease;Night blindness, congenital stationary (incomplete), 2A, X-linked;Cone-rod dystrophy, X-linked, 3	XL, XLR
CACNA1G	604065	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits;Spinocerebellar ataxia 42	AD
CACNA1H	607904	Hyperaldosteronism, familial, type IV;Epilepsy, childhood absence, susceptibility to, 6;Epilepsy, idiopathic generalized, susceptibility to, 6	AD
CACNA1S	114208	Thyrotoxic periodic paralysis, susceptibility to, 1;Malignant hyperthermia susceptibility 5;Malignant hyperthermia, susceptibility to, 5;Hypokalemic periodic paralysis, type 1	AD
CACNA2D2	607082	Cerebellar atrophy with seizures and variable developmental delay	AR
CACNB2	600003	Brugada syndrome 4
CACNB4	601949	Epilepsy, juvenile myoclonic, susceptibility to, 6;Epilepsy, idiopathic generalized, susceptibility to, 9;Episodic ataxia, type 5	AD
CAD	114010	Developmental and epileptic encephalopathy 50	AR
CAMK2A	114078	?Mental retardation, autosomal recessive 63;Mental retardation, AD 53	AR, AD
CAMK2B	607707	Mental retardation, AD 54	AD
CAMK2G	602123	Mental retardation, AD 59	AD
CAMTA1	611501	Cerebellar ataxia, nonprogressive, with mental retardation	AD
CAPN1	114220	Spastic paraplegia 76, AR	AR
CAPN3	114240	Muscular dystrophy, limb-girdle, AD 4;Muscular dystrophy, limb-girdle, autosomal recessive 1	AD, AR
CARD11	607210	Immunodeficiency 11A;Immunodeficiency 11B with atopic dermatitis;B-cell expansion with NFKB and T-cell anergy	AR, AD
CARS2	612800	Combined oxidative phosphorylation deficiency 27	AR
CASK	300172	Mental retardation, with or without nystagmus;Mental retardation and microcephaly with pontine and cerebellar hypoplasia;FG syndrome 4	XLD
CASQ1	114250	Myopathy, vacuolar, with CASQ1 aggregates	AD
CASR	601199	Epilepsy idiopathic generalized, susceptibility to, 8;Hypocalcemia, AD, with Bartter syndrome;Hypocalciuric hypercalcemia, type I;Hyperparathyroidism, neonatal;Hypocalcemia, AD	AD, AD, AR
CAT	115500	Acatalasemia
CAV1	601047	Pulmonary hypertension, primary, 3;Lipodystrophy, familial partial, type 7;?Lipodystrophy, congenital generalized, type 3	AD, AR
CAV3	601253	Rippling muscle disease 2;Cardiomyopathy, familial hypertrophic;Creatine phosphokinase, elevated serum;Long QT syndrome 9;Myopathy, distal, Tateyama type	AD, AD, DD
CAVIN1	603198	Lipodystrophy, congenital generalized, type 4	AR
CBL	165360	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;?Juvenile myelomonocytic leukemia	AD, AD, SM
CBS	613381	Thrombosis, hyperhomocysteinemic;Homocystinuria, B6-responsive and nonresponsive types	AR
CC2D1A	610055	Mental retardation, autosomal recessive 3	AR
CC2D2A	612013	Meckel syndrome 6;Joubert syndrome 9;COACH syndrome 2	AR
CCDC115	613734	Congenital disorder of glycosylation, type IIo	AR
CCDC22	300859	Ritscher-Schinzel syndrome 2	XLR
CCDC40	613799	Ciliary dyskinesia, primary, 15	AR
CCDC78	614666	?Centronuclear myopathy 4	AD
CCDC88A	609736	?PEHO syndrome-like	AR
CCDC88C	611204	Hydrocephalus, congenital, 1;?Spinocerebellar ataxia 40	AR, AD
CCM2	607929	Cerebral cavernous malformations-2	AD
CCNF	600227	Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
CCT5	610150	Neuropathy, hereditary sensory, with spastic paraplegia	AR
CD320	606475	Methylmalonic aciduria, transient, due to transcobalamin receptor defect
CD59	107271	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy	AR
CD96	606037	C syndrome	AD
CDH11	600023	Teebi hypertelorism syndrome 2;Elsahy-Waters syndrome	AD, AR
CDH15	114019	Mental retardation, AD 3
CDK5RAP2	608201	Microcephaly 3, primary, AR	AR
CDKL5	300203	Developmental and epileptic encephalopathy 2	XLD
CDON	608707	Holoprosencephaly 11	AD
CEL	114840	Maturity-onset diabetes of the young, type VIII	AD
CENPF	600236	Stromme syndrome	AR
CENPJ	609279	?Seckel syndrome 4;Microcephaly 6, primary, AR	AR
CEP135	611423	Microcephaly 8, primary, AR	AR
CEP152	613529	Microcephaly 9, primary, AR;Seckel syndrome 5	AR
CEP164	614848	Nephronophthisis 15	AR
CEP290	610142	Leber congenital amaurosis 10;Meckel syndrome 4;?Bardet-Biedl syndrome 14;Senior-Loken syndrome 6;Joubert syndrome 5	AR
CEP41	610523	Joubert syndrome 15	AR
CEP63	614724	?Seckel syndrome 6	AR
CERS1	606919	?Epilepsy, progressive myoclonic, 8	AR
CERT1	604677	Mental retardation, AD 34	AD
CFAP418	614477	Retinitis pigmentosa 64;Cone-rod dystrophy 16;Bardet-Biedl syndrome 21	AR
CFL2	601443	Nemaline myopathy 7, AR	AR
CHAMP1	616327	Mental retardation, AD 40	AD
CHAT	118490	Myasthenic syndrome, congenital, 6, presynaptic	AR
CHCHD10	615903	?Myopathy, isolated MT, AD;Spinal muscular atrophy, Jokela type;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	AD
CHCHD2	616244	Parkinson disease 22, AD	AD
CHD1	602118	Pilarowski-Bjornsson syndrome	AD
CHD2	602119	Epileptic encephalopathy, childhood-onset	AD
CHD3	602120	Snijders Blok-Campeau syndrome	AD
CHD7	608892	CHARGE syndrome;Hypogonadotropic hypogonadism 5 with or without anosmia	AD
CHD8	610528	Autism, susceptibility to, 18	AD
CHKB	612395	Muscular dystrophy, congenital, megaconial type	AR
CHL1	607416
CHMP1A	164010	Pontocerebellar hypoplasia, type 8	AR
CHMP2B	609512	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	AD
CHRNA1	100690	Myasthenic syndrome, congenital, 1B, fast-channel;Myasthenic syndrome, congenital, 1A, slow-channel;Multiple pterygium syndrome, lethal type	AD, AR, AD, AR
CHRNA2	118502	Epilepsy, nocturnal frontal lobe, type 4	AD
CHRNA4	118504	Nicotine addiction, susceptibility to;Epilepsy, nocturnal frontal lobe, 1	AD
CHRNA7	118511
CHRNB1	100710	Myasthenic syndrome, congenital, 2A, slow-channel;?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency	AD, AR
CHRNB2	118507	Epilepsy, nocturnal frontal lobe, 3
CHRND	100720	?Myasthenic syndrome, congenital, 3A, slow-channel;Myasthenic syndrome, congenital, 3B, fast-channel;Multiple pterygium syndrome, lethal type;?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency	AD, AR
CHRNE	100725	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency;Myasthenic syndrome, congenital, 4A, slow-channel;Myasthenic syndrome, congenital, 4B, fast-channel	AR, AD, AR
CHRNG	100730	Multiple pterygium syndrome, lethal type;Escobar syndrome	AR
CHST14	608429	Ehlers-Danlos syndrome, musculocontractural type 1	AR
CHSY1	608183	Temtamy preaxial brachydactyly syndrome	AR
CIB2	605564	Usher syndrome, type IJ;Deafness, autosomal recessive 48	AR
CIC	612082	Mental retardation, AD 45	AD
CILK1	612325	Endocrine-cerebroosteodysplasia;Epilepsy, juvenile myoclonic, susceptibility to, 10	AR, AD
CISD2	611507	Wolfram syndrome 2	AR
CIT	605629	Microcephaly 17, primary, AR	AR
CLCN1	118425	Myotonia congenita, dominant;Myotonia congenita, recessive	AD, AR
CLCN2	600570	Epilepsy, juvenile absence, susceptibility to, 2;Hyperaldosteronism, familial, type II;Epilepsy, juvenile myoclonic, susceptibility to, 8;Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with ataxia	AD, AR
CLCN4	302910	Raynaud-Claes syndrome	XLD
CLCNKA	602024	Bartter syndrome, type 4b, digenic	DR
CLCNKB	602023	Bartter syndrome, type 3;Bartter syndrome, type 4b, digenic	AR, DR
CLDN16	603959	Hypomagnesemia 3, renal	AR
CLDN19	610036	Hypomagnesemia 5, renal, with ocular involvement	AR
CLN3	607042	Ceroid lipofuscinosis, neuronal, 3	AR
CLN5	608102	Ceroid lipofuscinosis, neuronal, 5	AR
CLN6	606725	Ceroid lipofuscinosis, neuronal, Kufs type, adult onset;Ceroid lipofuscinosis, neuronal, 6	AR
CLN8	607837	Ceroid lipofuscinosis, neuronal, 8;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant	AR
CLP1	608757	Pontocerebellar hypoplasia, type 10	AR
CLPB	616254	3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia	AR
CLPP	601119	Perrault syndrome 3	AR
CLTC	118955	Mental retardation, AD 56	AD
CNBP	116955	Myotonic dystrophy 2	AD
CNGB3	605080	Achromatopsia 3	AR
CNKSR2	300724	Mental retardation, X-linked, syndromic, Houge type	XL
CNNM2	607803	Hypomagnesemia 6, renal;Hypomagnesemia, seizures, and mental retardation	AD, AD, AR
CNPY3	610774	Developmental and epileptic encephalopathy 60	AR
CNTN4	607280
CNTNAP1	602346	Lethal congenital contracture syndrome 7;Hypomyelinating neuropathy, congenital, 3	AR
CNTNAP2	604569	Cortical dysplasia-focal epilepsy syndrome;Pitt-Hopkins like syndrome 1;Autism susceptibility 15	AR
COA5	613920	?MT complex IV, deficiency, nuclear type 9	AR
COA6	614772	MT complex IV deficiency, nuclear type 13	AR
COA7	615623	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	AR
COA8	616003	MT complex IV deficiency, nuclear type 17	AR
COASY	609855	Neurodegeneration with brain iron accumulation 6;Pontocerebellar hypoplasia, type 12	AR
COG1	606973	Congenital disorder of glycosylation, type IIg	AR
COG4	606976	Congenital disorder of glycosylation, type IIj;Saul-Wilson syndrome	AR, AD
COG5	606821	Congenital disorder of glycosylation, type IIi	AR
COG6	606977	Shaheen syndrome;Congenital disorder of glycosylation, type IIl	AR
COG7	606978	Congenital disorder of glycosylation, type IIe	AR
COG8	606979	Congenital disorder of glycosylation, type IIh
COL11A2	120290	Deafness, autosomal recessive 53;Otospondylomegaepiphyseal dysplasia, AR;Fibrochondrogenesis 2;Otospondylomegaepiphyseal dysplasia, AD;Deafness, AD 13	AR, AD, AR, AD
COL12A1	120320	?Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2	AR, AD
COL13A1	120350	Myasthenic syndrome, congenital, 19	AR
COL18A1	120328	Glaucoma, primary closed-angle;Knobloch syndrome, type 1	AD, AR
COL2A1	120140	Legg-Calve-Perthes disease;Stickler syndrome, type I;Osteoarthritis with mild chondrodysplasia;Platyspondylic skeletal dysplasia, Torrance type;Spondyloepiphyseal dysplasia, Stanescu type;Kniest dysplasia;Czech dysplasia;Stickler sydrome, type I, nonsyndromic ocular;?Vitreoretinopathy with phalangeal epiphyseal dysplasia;?Epiphyseal dysplasia, multiple, with myopia and deafness;Avascular necrosis of the femoral head;Spondyloperipheral dysplasia;Achondrogenesis, type II or hypochondrogenesis;SMED Strudwick type;SED congenita	AD
COL4A1	120130	?Retinal arteries, tortuosity of;Hemorrhage, intracerebral, susceptibility to;Microangiopathy and leukoencephalopathy, pontine, AD;Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with or without ocular anomalies	AD
COL4A2	120090	Hemorrhage, intracerebral, susceptibility to;Brain small vessel disease 2	AD
COL6A1	120220	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1	AD, AR
COL6A2	120240	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;?Myosclerosis, congenital	AD, AR, AR
COL6A3	120250	Dystonia 27;Ullrich congenital muscular dystrophy 1;Bethlem myopathy 1	AR, AD, AR
COLGALT1	617531	Brain small vessel disease 3	AR
COLQ	603033	Myasthenic syndrome, congenital, 5	AR
COMT	116790	Panic disorder, susceptibility to;Schizophrenia, susceptibility to	?AD, AD
COQ2	609825	Coenzyme Q10 deficiency, primary, 1;Multiple system atrophy, susceptibility to	AR, AD, AR
COQ4	612898	Coenzyme Q10 deficiency, primary, 7	AR
COQ6	614647	Coenzyme Q10 deficiency, primary, 6	AR
COQ7	601683	?Coenzyme Q10 deficiency, primary, 8	AR
COQ8A	606980	Coenzyme Q10 deficiency, primary, 4	AR
COQ8B	615567	Nephrotic syndrome, type 9	AR
COQ9	612837	Coenzyme Q10 deficiency, primary, 5	AR
COX10	602125	MT complex IV deficiency, nuclear type 3	AR
COX14	614478	?MT complex IV deficiency, nuclear type 10	AR
COX15	603646	MT complex IV deficiency, nuclear type 6	AR
COX20	614698	MT complex IV deficiency, nuclear type 11	AR
COX4I2	607976	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis	AR
COX6A1	602072	Charcot-Marie-Tooth disease, recessive intermediate D	AR
COX6B1	124089	MT complex IV deficiency, nuclear type 7	AR
COX7B	300885	Linear skin defects with multiple congenital anomalies 2	XLD
CP	117700	Cerebellar ataxia;Hemosiderosis, systemic, due to aceruloplasminemia;[Hypoceruloplasminemia, hereditary]	AR
CPA6	609562	Febrile seizures, familial, 11;Epilepsy, familial temporal lobe, 5	AR, AD, AR
CPLANE1	614571	Orofaciodigital syndrome VI;Joubert syndrome 17	AR
CPLX1	605032	Developmental and epileptic encephalopathy 63	AR
CPOX	612732	Harderoporphyria;Coproporphyria	AR, AD, AR
CPS1	608307	Carbamoylphosphate synthetase I deficiency;Pulmonary hypertension, neonatal, susceptibility to	AR
CPT1A	600528	CPT deficiency, hepatic, type IA	AR
CPT1C	608846	?Spastic paraplegia 73, AD	AD
CPT2	600650	CPT II deficiency, myopathic, stress-induced;CPT II deficiency, infantile;Encephalopathy, acute, infection-induced, 4, susceptibility to;CPT II deficiency, lethal neonatal	AD, AR, AR
CRADD	603454	Mental retardation, autosomal recessive 34, with variant lissencephaly	AR
CRBN	609262	Mental retardation, autosomal recessive 2	AR
CREBBP	600140	Menke-Hennekam syndrome 1;Rubinstein-Taybi syndrome 1	AD
CRIPT	604594	Short stature with microcephaly and distinctive facies	AR
CRLF1	604237	Cold-induced sweating syndrome 1	AR
CRPPA	614631	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	AR
CRYAB	123590	Cataract 16, multiple types;Cardiomyopathy, dilated, 1II;Myopathy, myofibrillar, 2;Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related	AD, AR, AD, AR
CSF1R	164770	Brain abnormalities, neurodegeneration, and dysosteosclerosis;Leukoencephalopathy, diffuse hereditary, with spheroids	AR, AD
CSMD1	608397
CSNK2B	115441	Poirier-Bienvenu neurodevelopmental syndrome	AD
CSPP1	611654	Joubert syndrome 21	AR
CSRP3	600824	?Cardiomyopathy, dilated, 1M;Cardiomyopathy, hypertrophic, 12	AD
CST3	604312	Macular degeneration, age-related, 11;Cerebral amyloid angiopathy	AD
CSTB	601145	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)	AR
CTC1	613129	Cerebroretinal microangiopathy with calcifications and cysts	AR
CTCF	604167	Mental retardation, AD 21	AD
CTDP1	604927	Congenital cataracts, facial dysmorphism, and neuropathy	AR
CTNNA2	114025	Cortical dysplasia, complex, with other brain malformations 9	AR
CTNNA3	607667	Arrhythmogenic right ventricular dysplasia, familial, 13	AD
CTNNB1	116806	Ovarian cancer, somatic;Colorectal cancer, somatic;Pilomatricoma, somatic;Neurodevelopmental disorder with spastic diplegia and visual defects;Exudative vitreoretinopathy 7;Medulloblastoma, somatic;Hepatocellular carcinoma, somatic	AD
CTNS	606272	Cystinosis, late-onset juvenile or adolescent nephropathic;Cystinosis, ocular nonnephropathic;Cystinosis, nephropathic;Cystinosis, atypical nephropathic	AR
CTSA	613111	Galactosialidosis	AR
CTSC	602365	Periodontitis 1, juvenile;Haim-Munk syndrome;Papillon-Lefevre syndrome	AR
CTSD	116840	Ceroid lipofuscinosis, neuronal, 10	AR
CTSF	603539	Ceroid lipofuscinosis, neuronal, 13, Kufs type	AR
CTSK	601105	Pycnodysostosis	AR
CUL3	603136	Pseudohypoaldosteronism, type IIE;Neurodevelopmental disorder with or without autism or seizures	AD
CUL4B	300304	Mental retardation, X-linked, syndromic 15 (Cabezas type)	XLR
CUL7	609577	3-M syndrome 1	AR
CUX1	116896	Global developmental delay with or without impaired intellectual development	AD
CUX2	610648	Developmental and epileptic encephalopathy 67	AD
CWF19L1	616120	Spinocerebellar ataxia, autosomal recessive 17	AR
CX3CR1	601470	Macular degeneration, age-related, 12;Coronary artery disease, resistance to;Rapid progression to AIDS from HIV1 infection
CYB5A	613218	Methemoglobinemia and ambiguous genitalia	AR
CYB5R3	613213	Methemoglobinemia, type I;Methemoglobinemia, type II	AR
CYC1	123980	MT complex III deficiency, nuclear type 6	AR
CYCS	123970	Thrombocytopenia 4	AD
CYFIP2	606323	Developmental and epileptic encephalopathy 65	AD
CYLD	605018	Trichoepithelioma, multiple familial, 1;?Frontotemporal dementia and/or amytrophic lateral sclerosis 8;Cylindromatosis, familial;Brooke-Spiegler syndrome	AD
CYP11A1	118485	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
CYP11B1	610613	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency;Aldosteronism, glucocorticoid-remediable	AR, AD
CYP11B2	124080	Hypoaldosteronism, congenital, due to CMO II deficiency;Hypoaldosteronism, congenital, due to CMO I deficiency	AR
CYP24A1	126065	Hypercalcemia, infantile, 1	AR
CYP27A1	606530	Cerebrotendinous xanthomatosis	AR
CYP27B1	609506	Vitamin D-dependent rickets, type I	AR
CYP2U1	610670	Spastic paraplegia 56, AR	AR
CYP7B1	603711	Spastic paraplegia 5A, AR;Bile acid synthesis defect, congenital, 3	AR
D2HGDH	609186	D-2-hydroxyglutaric aciduria	AR
DAB1	603448	Spinocerebellar ataxia 37	AD
DAG1	128239	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	AR
DARS1	603084	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	AR
DARS2	610956	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	AR
DBT	248610	Maple syrup urine disease, type II	AR
DCAF17	612515	Woodhouse-Sakati syndrome	AR
DCTN1	601143	Perry syndrome;Neuronopathy, distal hereditary motor, type VIIB;Amyotrophic lateral sclerosis, susceptibility to	AD, AD, AR
DCX	300121	Lissencephaly, X-linked;Subcortical laminal heterotopia, XL	XL
DDC	107930	Aromatic L-amino acid decarboxylase deficiency	AR
DDHD1	614603	Spastic paraplegia 28, AR	AR
DDHD2	615003	Spastic paraplegia 54, AR	AR
DDOST	602202	?Congenital disorder of glycosylation, type Ir	AR
DDX3X	300160	Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type	XLD, XLR
DEAF1	602635	Vulto-van Silfout-de Vries syndrome;Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures	AD, AR
DEGS1	615843	Leukodystrophy, hypomyelinating, 18	AR
DENND5A	617278	Developmental and epileptic encephalopathy 49	AR
DEPDC5	614191	Epilepsy, familial focal, with variable foci 1	AD
DES	125660	Cardiomyopathy, dilated, 1I;Myopathy, myofibrillar, 1;Scapuloperoneal syndrome, neurogenic, Kaeser type	AD, AD, AR
DGUOK	601465	Portal hypertension, noncirrhotic;Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 4;MT DNA depletion syndrome 3 (hepatocerebral type)	AR
DHCR24	606418	Desmosterolosis	AR
DHCR7	602858	Smith-Lemli-Opitz syndrome	AR
DHDDS	608172	Developmental delay and seizures with or without movement abnormalities;Retinitis pigmentosa 59;?Congenital disorder of glycosylation, type 1bb	AD, AR
DHFR	126060	Megaloblastic anemia due to dihydrofolate reductase deficiency	AR
DHH	605423	46XY gonadal dysgenesis with minifascicular neuropathy;46XY sex reversal 7	AR
DHODH	126064	Miller syndrome	AR
DHPS	600944	Neurodevelopmental disorder with seizures and speech and walking impairment	AR
DHTKD1	614984	2-aminoadipic 2-oxoadipic aciduria;?Charcot-Marie-Tooth disease, axonal, type 2Q	AR, AD
DHX30	616423	Neurodevelopmental disorder with severe motor impairment and absent language	AD
DIABLO	605219	Deafness, AD 64	AD
DIAPH1	602121	Seizures, cortical blindness, microcephaly syndrome;Deafness, AD 1, with or without thrombocytopenia	AR, AD
DIAPH3	614567	Auditory neuropathy, AD, 1	AD
DIP2B	611379	Mental retardation, FRA12A type	AD
DKC1	300126	Dyskeratosis congenita, XL	XLR
DLAT	608770	Pyruvate dehydrogenase E2 deficiency	AR
DLD	238331	Dihydrolipoamide dehydrogenase deficiency	AR
DLG3	300189	Mental retardation, X-linked 90	XLR
DLG4	602887	Intellectual developmental disorder 62	AD
DLGAP2	605438
DLL3	602768	Spondylocostal dysostosis 1, AR	AR
DLX3	600525	Amelogenesis imperfecta, type IV;Trichodontoosseous syndrome	AD
DMD	300377	Cardiomyopathy, dilated, 3B;Duchenne muscular dystrophy;Becker muscular dystrophy	XL, XLR
DMGDH	605849	Dimethylglycine dehydrogenase deficiency	AR
DMPK	605377	Myotonic dystrophy 1	AD
DMXL2	612186	?Polyendocrine-polyneuropathy syndrome;Developmental and epileptic encephalopathy 81;?Deafness, AD 71	AR, AD
DNA2	601810	?Seckel syndrome 8;Progressive external ophthalmoplegia with MT DNA deletions, AD 6	AR, AD
DNAJB2	604139	Spinal muscular atrophy, distal, autosomal recessive, 5	AR
DNAJB6	611332	Muscular dystrophy, limb-girdle, AD 1	AD
DNAJC12	606060	Hyperphenylalaninemia, mild, non-BH4-deficient	AR
DNAJC13	614334
DNAJC19	608977	3-methylglutaconic aciduria, type V	AR
DNAJC5	611203	Ceroid lipofuscinosis, neuronal, 4, Parry type	AD
DNAJC6	608375	Parkinson disease 19b, early-onset;Parkinson disease 19a, juvenile-onset	AR
DNM1	602377	Developmental and epileptic encephalopathy 31	AD
DNM1L	603850	Optic atrophy 5;Encephalopathy, lethal, due to defective MT peroxisomal fission 1	AD, AD, AR
DNM2	602378	Lethal congenital contracture syndrome 5;Charcot-Marie-Tooth disease, axonal type 2M;Charcot-Marie-Tooth disease, dominant intermediate B;Centronuclear myopathy 1	AR, AD
DNMT1	126375	Neuropathy, hereditary sensory, type IE;Cerebellar ataxia, deafness, and narcolepsy, AD	AD
DNMT3A	602769	Tatton-Brown-Rahman syndrome;Heyn-Sproul-Jackson syndrome;Acute myeloid leukemia, somatic	AD
DOCK3	603123	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	AR
DOCK6	614194	Adams-Oliver syndrome 2	AR
DOCK7	615730	Developmental and epileptic encephalopathy 23	AR
DOCK8	611432	Hyper-IgE recurrent infection syndrome, AR	AR
DOK7	610285	Fetal akinesia deformation sequence 3;Myasthenic syndrome, congenital, 10	AR
DOLK	610746	Congenital disorder of glycosylation, type Im	AR
DPAGT1	191350	Myasthenic syndrome, congenital, 13, with tubular aggregates;Congenital disorder of glycosylation, type Ij	AR
DPF2	601671	Coffin-Siris syndrome 7	AD
DPM1	603503	Congenital disorder of glycosylation, type Ie	AR
DPM2	603564	Congenital disorder of glycosylation, type Iu	AR
DPM3	605951	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15;?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15	AR
DPP6	126141	Ventricular fibrillation, paroxysmal familial, 2;Mental retardation, AD 33	AD
DPYD	612779	5-fluorouracil toxicity;Dihydropyrimidine dehydrogenase deficiency	AR
DPYS	613326	Dihydropyrimidinuria	AR
DRD3	126451	Schizophrenia, susceptibility to;Essential tremor, hereditary, 1	AD
DST	113810	?Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2	AR
DSTYK	612666	Spastic paraplegia 23;Congenital anomalies of kidney and urinary tract 1	AR, AD
DTNBP1	607145	Hermansky-Pudlak syndrome 7	AR
DVL3	601368	Robinow syndrome, AD 3	AD
DYM	607461	Dyggve-Melchior-Clausen disease;Smith-McCort dysplasia	AR
DYNC1H1	600112	Spinal muscular atrophy, lower extremity-predominant 1, AD;Charcot-Marie-Tooth disease, axonal, type 20;Mental retardation, AD 13	AD
DYNC2H1	603297	Short-rib thoracic dysplasia 3 with or without polydactyly	AR, DR
DYRK1A	600855	Mental retardation, AD 7	AD
DYSF	603009	Muscular dystrophy, limb-girdle, autosomal recessive 2;Myopathy, distal, with anterior tibial onset;Miyoshi muscular dystrophy 1	AR
EARS2	612799	Combined oxidative phosphorylation deficiency 12	AR
EBF3	607407	Hypotonia, ataxia, and delayed development syndrome	AD
EBP	300205	MEND syndrome;Chondrodysplasia punctata, XLD	XLR, XLD
ECEL1	605896	Arthrogryposis, distal, type 5D	AR
ECHS1	602292	MT short-chain enoyl-CoA hydratase 1 deficiency	AR
EDC3	609842	?Mental retardation, autosomal recessive 50	AR
EDN3	131242	Waardenburg syndrome, type 4B;Hirschsprung disease, susceptibility to, 4;Central hypoventilation syndrome, congenital	AD, AR, AD
EDNRB	131244	Waardenburg syndrome, type 4A;Hirschsprung disease, susceptibility to, 2;ABCD syndrome	AD, AR, AD, AR
EEF1A2	602959	Mental retardation, AD 38;Developmental and epileptic encephalopathy 33	AD
EFHC1	608815	Epilepsy, juvenile absence, susceptibility to, 1;Myoclonic epilepsy, juvenile, susceptibility to, 1	AD
EFTUD2	603892	Mandibulofacial dysostosis, Guion-Almeida type	AD
EGF	131530	Hypomagnesemia 4, renal	AR
EGR2	129010	Dejerine-Sottas disease;Hypomyelinating neuropathy, congenital, 1;Charcot-Marie-Tooth disease, type 1D	AD, AR, AD
EHMT1	607001	Kleefstra syndrome 1	AD
EIF2B1	606686	Leukoencephalopathy with vanishing white matter	AR
EIF2B2	606454	Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter	AR
EIF2B3	606273	Leukoencephalopathy with vanishing white matter	AR
EIF2B4	606687	Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter	AR
EIF2B5	603945	Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter	AR
EIF2S3	300161	MEHMO syndrome	XLR
EIF3F	603914	Mental retardation, autosomal recessive 67	AR
EIF4G1	600495	Parkinson disease 18	AD
ELAC2	605367	Prostate cancer, hereditary, 2, susceptibility to;Combined oxidative phosphorylation deficiency 17	AR
ELOVL4	605512	Ichthyosis, spastic quadriplegia, and mental retardation;Stargardt disease 3;Spinocerebellar ataxia 34	AR, AD
ELOVL5	611805	Spinocerebellar ataxia 38	AD
ELP1	603722	Dysautonomia, familial;Medulloblastoma	AR, AD, AR, SM
ELP2	616054	Mental retardation, autosomal recessive 58	AR
EMC10	614545	Neurodevelopmental disorder with dysmorphic facies and variable seizures	AR
EMD	300384	Emery-Dreifuss muscular dystrophy 1, XL	XLR
EML1	602033	Band heterotopia	AR
EMX2	600035	Schizencephaly
ENO3	131370	?Glycogen storage disease XIII	AR
ENTPD1	601752	Spastic paraplegia 64, AR	AR
EP300	602700	Rubinstein-Taybi syndrome 2;Colorectal cancer, somatic;Menke-Hennekam syndrome 2	AD
EPB41L1	602879	?Mental retardation, AD 11	AD
EPG5	615068	Vici syndrome	AR
EPHX2	132811	Hypercholesterolemia, familial, due to LDLR defect, modifier of	AD, AR
EPM2A	607566	Epilepsy, progressive myoclonic 2A (Lafora)	AR
EPRS1	138295	Leukodystrophy, hypomyelinating, 15	AR
ERBB4	600543	Amyotrophic lateral sclerosis 19	AD
ERCC1	126380	Cerebrooculofacioskeletal syndrome 4	AR
ERCC2	126340	?Cerebrooculofacioskeletal syndrome 2;Xeroderma pigmentosum, group D;Trichothiodystrophy 1, photosensitive	AR
ERCC5	133530	Xeroderma pigmentosum, group G;Cerebrooculofacioskeletal syndrome 3;Xeroderma pigmentosum, group G/Cockayne syndrome	AR
ERCC6	609413	Lung cancer, susceptibility to;UV-sensitive syndrome 1;Premature ovarian failure 11;Macular degeneration, age-related, susceptibility to, 5;Cockayne syndrome, type B;De Sanctis-Cacchione syndrome;Cerebrooculofacioskeletal syndrome 1	AD, SM, AR, AD
ERCC8	609412	Cockayne syndrome, type A;UV-sensitive syndrome 2	AR
ERLIN1	611604	Spastic paraplegia 62	AR
ERLIN2	611605	Spastic paraplegia 18, AR	AR
ESCO2	609353	Roberts syndrome;Juberg-Hayward syndrome;SC phocomelia syndrome	AR
ETFA	608053	Glutaric acidemia IIA	AR
ETFB	130410	Glutaric acidemia IIB	AR
ETFDH	231675	Glutaric acidemia IIC	AR
ETHE1	608451	Ethylmalonic encephalopathy	AR
EWSR1	133450	Ewing sarcoma;Neuroepithelioma
EXOC6B	607880	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	AR
EXOSC3	606489	Pontocerebellar hypoplasia, type 1B	AR
EXOSC8	606019	Pontocerebellar hypoplasia, type 1C	AR
EXOSC9	606180	Pontocerebellar hypoplasia, type 1D	AR
EXT1	608177	Chondrosarcoma;Exostoses, multiple, type 1	SM, AD
EZH2	601573	Weaver syndrome	AD
F2	176930	Dysprothrombinemia;Stroke, ischemic, susceptibility to;Pregnancy loss, recurrent, susceptibility to, 2;Hypoprothrombinemia;Thrombophilia due to thrombin defect	AR, MF, AD
F5	612309	Pregnancy loss, recurrent, susceptibility to, 1;Factor V deficiency;Stroke, ischemic, susceptibility to;Budd-Chiari syndrome;Thrombophilia, susceptibility to, due to factor V Leiden;Thrombophilia due to activated protein C resistance	AD, AR, MF
FA2H	611026	Spastic paraplegia 35, AR	AR
FADD	602457	Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations	AR
FAH	613871	Tyrosinemia, type I	AR
FAM126A	610531	Leukodystrophy, hypomyelinating, 5	AR
FAN1	613534	Interstitial nephritis, karyomegalic	AR
FANCB	300515	Fanconi anemia, complementation group B	XLR
FARS2	611592	Combined oxidative phosphorylation deficiency 14;Spastic paraplegia 77, AR	AR
FARSB	609690	Rajab interstitial lung disease with brain calcifications 1	AR
FASTKD2	612322	Combined oxidative phosphorylation deficiency 44	AR
FAT2	604269	Spinocerebellar ataxia 45	AD
FBLN5	604580	Cutis laxa, autosomal recessive, type IA;Neuropathy, hereditary, with or without age-related macular degeneration;Macular degeneration, age-related, 3;?Cutis laxa, AD 2	AR, AD
FBN1	134797	Marfan lipodystrophy syndrome;Geleophysic dysplasia 2;Acromicric dysplasia;Marfan syndrome;Weill-Marchesani syndrome 2, dominant;Stiff skin syndrome;MASS syndrome;Ectopia lentis, familial	AD
FBN2	612570	Contractural arachnodactyly, congenital;Macular degeneration, early-onset	AD
FBXL4	605654	MT DNA depletion syndrome 13 (encephalomyopathic type)	AR
FBXO11	607871	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	AD
FBXO38	608533	Neuronopathy, distal hereditary motor, type IID	AD
FBXO7	605648	Parkinson disease 15, AR	AR
FDX2	614585	MT myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	AR
FDXR	103270	Auditory neuropathy and optic atrophy	AR
FECH	612386	Protoporphyria, erythropoietic, 1	AR
FEZF1	613301	Hypogonadotropic hypogonadism 22, with or without anosmia	AR
FGA	134820	Hypodysfibrinogenemia, congenital;Afibrinogenemia, congenital;Amyloidosis, familial visceral;Dysfibrinogenemia, congenital	AR, AD
FGD1	300546	Aarskog-Scott syndrome;Mental retardation, X-linked syndromic 16	XLR
FGD4	611104	Charcot-Marie-Tooth disease, type 4H	AR
FGF10	602115	Aplasia of lacrimal and salivary glands;LADD syndrome	AD
FGF12	601513	Developmental and epileptic encephalopathy 47	AD
FGF14	601515	Spinocerebellar ataxia 27	AD
FGFR2	176943	Crouzon syndrome;Saethre-Chotzen syndrome;Craniofacial-skeletal-dermatologic dysplasia;Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis;Gastric cancer, somatic;LADD syndrome;Beare-Stevenson cutis gyrata syndrome;Scaphocephaly, maxillary retrusion, and mental retardation;Apert syndrome;Bent bone dysplasia syndrome;Pfeiffer syndrome;Jackson-Weiss syndrome	AD
FGFR3	134934	Achondroplasia;CATSHL syndrome;Thanatophoric dysplasia, type I;Bladder cancer, somatic;Hypochondroplasia;SADDAN;Colorectal cancer, somatic;Crouzon syndrome with acanthosis nigricans;Cervical cancer, somatic;Nevus, epidermal, somatic;Thanatophoric dysplasia, type II;Spermatocytic seminoma, somatic;Muenke syndrome;LADD syndrome	AD, AD, AR
FH	136850	Fumarase deficiency;Leiomyomatosis and renal cell cancer	AR, AD
FHL1	300163	Reducing body myopathy, X-linked 1b, with late childhood or adult onset;Scapuloperoneal myopathy, XLD;?Uruguay faciocardiomusculoskeletal syndrome;Myopathy, X-linked, with postural muscle atrophy;Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset;Emery-Dreifuss muscular dystrophy 6, XL	XL, XLD, XLR
FIG4	609390	Amyotrophic lateral sclerosis 11;Yunis-Varon syndrome;Charcot-Marie-Tooth disease, type 4J;?Polymicrogyria, bilateral temporooccipital	AD, AR
FKBP10	607063	Osteogenesis imperfecta, type XI;Bruck syndrome 1	AR
FKBP14	614505	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	AR
FKRP	606596	Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	AR
FKTN	607440	Cardiomyopathy, dilated, 1X;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	AR
FLAD1	610595	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	AR
FLNA	300017	Frontometaphyseal dysplasia 1;Heterotopia, periventricular, 1;Terminal osseous dysplasia;Congenital short bowel syndrome;Otopalatodigital syndrome, type II;Melnick-Needles syndrome;Cardiac valvular dysplasia, X-linked;Intestinal pseudoobstruction, neuronal;?FG syndrome 2;Otopalatodigital syndrome, type I	XLR, XLD, XL
FLNC	102565	Cardiomyopathy, familial restrictive 5;Myopathy, myofibrillar, 5;Myopathy, distal, 4;Cardiomyopathy, familial hypertrophic, 26	AD
FLVCR1	609144	Ataxia, posterior column, with retinitis pigmentosa	AR
FLVCR2	610865	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	AR
FMN2	606373	Mental retardation, autosomal recessive 47	AR
FOLR1	136430	Neurodegeneration due to cerebral folate transport deficiency	AR
FOXC1	601090	Anterior segment dysgenesis 3, multiple subtypes;Axenfeld-Rieger syndrome, type 3	AD
FOXG1	164874	Rett syndrome, congenital variant	AD
FOXL2	605597	Blepharophimosis, epicanthus inversus, and ptosis, type 1;Blepharophimosis, epicanthus inversus, and ptosis, type 2;Premature ovarian failure 3	AD, AR, AD
FOXP1	605515	Mental retardation with language impairment and with or without autistic features	AD
FOXP2	605317	Speech-language disorder-1	AD
FOXRED1	613622	MT complex I deficiency, nuclear type 19	AR
FRMD7	300628	Nystagmus, infantile periodic alternating, X-linked;Nystagmus 1, congenital, XL	XL
FRMPD4	300838	Mental retardation, X-linked 104	XL
FRRS1L	604574	Developmental and epileptic encephalopathy 37	AR
FTL	134790	Neurodegeneration with brain iron accumulation 3;Hyperferritinemia-cataract syndrome;L-ferritin deficiency, dominant and recessive	AD, AD, AR
FTO	610966	Growth retardation, developmental delay, facial dysmorphism;Obesity, susceptibility to, BMIQ14	AR
FTSJ1	300499	Mental retardation, X-linked 9/44	XLR
FUCA1	612280	Fucosidosis	AR
FUS	137070	Essential tremor, hereditary, 4;Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia	AD
FUT8	602589	Congenital disorder of glycosylation with defective fucosylation 1	AR
FXN	606829	Friedreich ataxia;Friedreich ataxia with retained reflexes	AR
FXR1	600819	?Myopathy, congenital, with respiratory insufficiency and bone fractures;?Myopathy, congenital proximal, with minicore lesions	AR
FXYD2	601814	Hypomagnesemia 2, renal	AD
G6PD	305900	Resistance to malaria due to G6PD deficiency;Hemolytic anemia, G6PD deficient (favism)	XLD
GAA	606800	Glycogen storage disease II	AR
GABBR2	607340	Nicotine dependence, susceptibility to;Neurodevelopmental disorder with poor language and loss of hand skills;Developmental and epileptic encephalopathy 59;Nicotine dependence, protection against	AD
GABRA1	137160	Developmental and epileptic encephalopathy 19;Epilepsy, childhood absence, susceptibility to, 4;Epilepsy, juvenile myoclonic, susceptibility to, 5	AD
GABRA2	137140	Alcohol dependence, susceptibility to;Developmental and epileptic encephalopathy 78	MF, AD
GABRA5	137142	Developmental and epileptic encephalopathy 79	AD
GABRB1	137190	Developmental and epileptic encephalopathy 45	AD
GABRB2	600232	Epileptic encephalopathy, infantile or early childhood, 2	AD
GABRB3	137192	Epilepsy, childhood absence, susceptibility to, 5;Developmental and epileptic encephalopathy 43	AD
GABRD	137163	Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to;Epilepsy, juvenile myoclonic, susceptibility to;Epilepsy, idiopathic generalized, 10	AD
GABRE	300093
GABRG2	137164	Developmental and epileptic encephalopathy 74;Epilepsy, generalized, with febrile seizures plus, type 3;Febrile seizures, familial, 8	AD
GAD1	605363	?Cerebral palsy, spastic quadriplegic, 1;Developmental and epileptic encephalopathy 89	AR
GALC	606890	Krabbe disease	AR
GALNS	612222	Mucopolysaccharidosis IVA	AR
GALT	606999	Galactosemia	AR
GAMT	601240	Cerebral creatine deficiency syndrome 2	AR
GAN	605379	Giant axonal neuropathy-1	AR
GARS1	600287	Spinal muscular atrophy, infantile, James type;Charcot-Marie-Tooth disease, type 2D;Neuronopathy, distal hereditary motor, type VA	AD
GATAD2B	614998	GAND syndrome	AD
GATM	602360	Cerebral creatine deficiency syndrome 3;Fanconi renotubular syndrome 1	AR, AD
GBA	606463	Lewy body dementia, susceptibility to;Gaucher disease, type IIIC;Parkinson disease, late-onset, susceptibility to;Gaucher disease, type II;Gaucher disease, type III;Gaucher disease, perinatal lethal;Gaucher disease, type I	AD, AR, AD, MF
GBA2	609471	Spastic paraplegia 46, AR	AR
GBE1	607839	Glycogen storage disease IV;Polyglucosan body disease, adult form	AR
GCDH	608801	Glutaricaciduria, type I	AR
GCH1	600225	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia;Hyperphenylalaninemia, BH4-deficient, B	AD, AR, AR
GCK	138079	Diabetes mellitus, permanent neonatal 1;Diabetes mellitus, noninsulin-dependent, late onset;Hyperinsulinemic hypoglycemia, familial, 3;MODY, type II	AR, AD
GCSH	238330	?Glycine encephalopathy	AR
GDAP1	606598	Charcot-Marie-Tooth disease, axonal, type 2K;Charcot-Marie-Tooth disease, type 4A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis;Charcot-Marie-Tooth disease, recessive intermediate, A	AD, AR, AR
GDI1	300104	Mental retardation, X-linked 41	XLD
GDNF	600837	Pheochromocytoma, modifier of;Central hypoventilation syndrome;Hirschsprung disease, susceptibility to, 3	AD
GFAP	137780	Alexander disease	AD
GFER	600924	Myopathy, MT progressive, with congenital cataract and developmental delay	AR
GFM1	606639	Combined oxidative phosphorylation deficiency 1	AR
GFM2	606544	Combined oxidative phosphorylation deficiency 39	AR
GFPT1	138292	Myasthenia, congenital, 12, with tubular aggregates	AR
GIGYF2	612003	Parkinson disease 11
GJA1	121014	Oculodentodigital dysplasia, AR;Atrioventricular septal defect 3;Syndactyly, type III;Craniometaphyseal dysplasia, AR;Palmoplantar keratoderma with congenital alopecia;Oculodentodigital dysplasia;Hypoplastic left heart syndrome 1;Erythrokeratodermia variabilis et progressiva 3	AR, AD
GJB1	304040	Charcot-Marie-Tooth neuropathy, XLD, 1	XLD
GJB3	603324	Deafness, AD 2B;Erythrokeratodermia variabilis et progressiva 1;Deafness, digenic, GJB2/GJB3	AD, AD, AR, AR, DD
GJC2	608803	Leukodystrophy, hypomyelinating, 2;Spastic paraplegia 44, AR;Lymphatic malformation 3	AR, AD
GK	300474	Glycerol kinase deficiency	XLR
GLA	300644	Fabry disease;Fabry disease, cardiac variant	XL
GLB1	611458	GM1-gangliosidosis, type II;GM1-gangliosidosis, type I;Mucopolysaccharidosis type IVB (Morquio);GM1-gangliosidosis, type III	AR
GLDC	238300	Glycine encephalopathy	AR
GLDN	608603	Lethal congenital contracture syndrome 11	AR
GLE1	603371	Congenital arthrogryposis with anterior horn cell disease;Lethal congenital contracture syndrome 1	AR
GLI2	165230	Holoprosencephaly 9;Culler-Jones syndrome	AD
GLI3	165240	Pallister-Hall syndrome;Polydactyly, preaxial, type IV;Polydactyly, postaxial, types A1 and B;Greig cephalopolysyndactyly syndrome	AD
GLO1	138750
GLRA1	138491	Hyperekplexia 1	AD, AR
GLRB	138492	Hyperekplexia 2	AR
GLRX5	609588	Spasticity, childhood-onset, with hyperglycinemia;Anemia, sideroblastic, 3, pyridoxine-refractory	AR
GLUD1	138130	Hyperinsulinism-hyperammonemia syndrome	AD
GLUL	138290	Glutamine deficiency, congenital	AR
GLYCTK	610516	D-glyceric aciduria	AR
GM2A	613109	GM2-gangliosidosis, AB variant	AR
GMPPA	615495	Alacrima, achalasia, and mental retardation syndrome	AR
GMPPB	615320	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	AR
GNAL	139312	Dystonia 25	AD
GNAO1	139311	Developmental and epileptic encephalopathy 17;Neurodevelopmental disorder with involuntary movements	AD
GNAQ	600998	Capillary malformations, congenital, 1, somatic, mosaic;Sturge-Weber syndrome, somatic, mosaic
GNAS	139320	Pseudohypoparathyroidism Ic;Osseous heteroplasia, progressive;Pseudopseudohypoparathyroidism;Pseudohypoparathyroidism Ia;Pseudohypoparathyroidism Ib;Pituitary adenoma 3, multiple types, somatic;ACTH-independent macronodular adrenal hyperplasia;McCune-Albright syndrome, somatic, mosaic	AD, SM
GNB1	139380	Leukemia, acute lymphoblastic, somatic;Myelodysplastic syndrome, somatic;Mental retardation, AD 42	AD
GNB4	610863	Charcot-Marie-Tooth disease, dominant intermediate F	AD
GNB5	604447	Intellectual developmental disorder with cardiac arrhythmia;Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia	AR
GNE	603824	Nonaka myopathy;Sialuria	AR, AD
GNPAT	602744	Rhizomelic chondrodysplasia punctata, type 2	AR
GNPTAB	607840	Mucolipidosis III alpha/beta;Mucolipidosis II alpha/beta	AR
GNPTG	607838	Mucolipidosis III gamma	AR
GNS	607664	Mucopolysaccharidosis type IIID	AR
GOSR2	604027	Epilepsy, progressive myoclonic 6	AR
GOT2	138150	Epileptic encephalopathy, early infantile, 82	AR
GPAA1	603048	Glycosylphosphatidylinositol biosynthesis defect 15	AR
GPC3	300037	Simpson-Golabi-Behmel syndrome, type 1;Wilms tumor, somatic	XLR
GPC4	300168	Keipert syndrome	XLR
GPC6	604404	Omodysplasia 1	AR
GPHN	603930	Molybdenum cofactor deficiency C	AR
GPI	172400	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	AR
GPT2	138210	Neurodevelopmental disorder with microcephaly and spastic paraplegia	AR
GPX1	138320	Hemolytic anemia due to glutathione peroxidase deficiency	AR
GRHPR	604296	Hyperoxaluria, primary, type II	AR
GRIA1	138248
GRIA2	138247	Neurodevelopmental disorder with language impairment and behavioral abnormalities	AD
GRIA3	305915	Intellectual developmental disorder, X-linked, syndromic, Wu type	XLR
GRIA4	138246	Neurodevelopmental disorder with or without seizures and gait abnormalities	AD
GRID2	602368	Spinocerebellar ataxia, autosomal recessive 18	AR
GRIK2	138244	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures;Mental retardation, autosomal recessive, 6	AD, AR
GRIN1	138249	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, AR;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, AD	AR, AD
GRIN2A	138253	Epilepsy, focal, with speech disorder and with or without mental retardation	AD
GRIN2B	138252	Mental retardation, AD 6;Developmental and epileptic encephalopathy 27	AD
GRIN2D	602717	Developmental and epileptic encephalopathy 46	AD
GRIP1	604597	Fraser syndrome 3	AR
GRM1	604473	Spinocerebellar ataxia 44;Spinocerebellar ataxia, autosomal recessive 13	AD, AR
GRN	138945	Ceroid lipofuscinosis, neuronal, 11;Frontotemporal lobar degeneration with ubiquitin-positive inclusions;Aphasia, primary progressive	AR, AD
GSN	137350	Amyloidosis, Finnish type	AD
GSR	138300	Hemolytic anemia due to glutathione reductase deficiency	AR
GSS	601002	Glutathione synthetase deficiency;Hemolytic anemia due to glutathione synthetase deficiency	AR
GTPBP2	607434	Jaberi-Elahi syndrome	AR
GTPBP3	608536	Combined oxidative phosphorylation deficiency 23	AR
GUF1	617064	?Developmental and epileptic encephalopathy 40	AR
GUSB	611499	Mucopolysaccharidosis VII	AR
GYG1	603942	Polyglucosan body myopathy 2;?Glycogen storage disease XV	AR
GYS1	138570	Glycogen storage disease 0, muscle	AR
HACE1	610876	Spastic paraplegia and psychomotor retardation with or without seizures	AR
HADH	601609	3-hydroxyacyl-CoA dehydrogenase deficiency;Hyperinsulinemic hypoglycemia, familial, 4	AR
HADHA	600890	HELLP syndrome, maternal, of pregnancy;LCHAD deficiency;Fatty liver, acute, of pregnancy;MT trifunctional protein deficiency	AR
HADHB	143450	Trifunctional protein deficiency	AR
HAMP	606464	Hemochromatosis, type 2B	AR
HARS2	600783	Perrault syndrome 2	AR
HAX1	605998	Neutropenia, severe congenital 3, AR	AR
HBB	141900	Erythrocytosis 6;Methemoglobinemia, beta type;Delta-beta thalassemia;Thalassemia-beta, dominant inclusion-body;Sickle cell anemia;Hereditary persistence of fetal hemoglobin;Malaria, resistance to;Thalassemia, beta;Heinz body anemia	AD, AR
HCCS	300056	Linear skin defects with multiple congenital anomalies 1	XLD
HCFC1	300019	Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )	XLR
HCN1	602780	Generalized epilepsy with febrile seizures plus, type 10;Developmental and epileptic encephalopathy 24	AD
HDAC4	605314
HDAC8	300269	Cornelia de Lange syndrome 5	XLD
HECW2	617245	Neurodevelopmental disorder with hypotonia, seizures, and absent language	AD
HEPACAM	611642	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation;Megalencephalic leukoencephalopathy with subcortical cysts 2A	AD, AR
HERC2	605837	[Skin/hair/eye pigmentation 1, blond/brown hair];[Skin/hair/eye pigmentation 1, blue/nonblue eyes];Mental retardation, autosomal recessive 38	AR
HESX1	601802	Septooptic dysplasia;Pituitary hormone deficiency, combined, 5;Growth hormone deficiency with pituitary anomalies	AD, AR
HEXA	606869	Tay-Sachs disease;[Hex A pseudodeficiency];GM2-gangliosidosis, several forms	AR
HEXB	606873	Sandhoff disease, infantile, juvenile, and adult forms	AR
HGSNAT	610453	Mucopolysaccharidosis type IIIC (Sanfilippo C);Retinitis pigmentosa 73	AR
HIBCH	610690	3-hydroxyisobutryl-CoA hydrolase deficiency	AR
HIKESHI	614908	Leukodystrophy, hypomyelinating, 13	AR
HINT1	601314	Neuromyotonia and axonal neuropathy, AR	AR
HIVEP2	143054	Mental retardation, AD 43	AD
HK1	142600	Retinitis pigmentosa 79;Hemolytic anemia due to hexokinase deficiency;Neurodevelopmental disorder with visual defects and brain anomalies;Neuropathy, hereditary motor and sensory, Russe type	AD, AR
HLCS	609018	Holocarboxylase synthetase deficiency	AR
HMBS	609806	Porphyria, acute intermittent;Porphyria, acute intermittent, nonerythroid variant	AD
HMGCL	613898	HMG-CoA lyase deficiency	AR
HMGCS2	600234	HMG-CoA synthase-2 deficiency	AR
HNMT	605238	Asthma, susceptibility to;Mental retardation, autosomal recessive 51	AD, AR
HNRNPA1	164017	Amyotrophic lateral sclerosis 20;?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3	AD
HNRNPA2B1	600124	?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	AD
HNRNPDL	607137	Muscular dystrophy, limb-girdle, AD 3	AD
HNRNPH2	300610	Mental retardation, X-linked, syndromic, Bain type	XLD
HNRNPR	607201
HNRNPU	602869	Developmental and epileptic encephalopathy 54	AD
HOGA1	613597	Hyperoxaluria, primary, type III	AR
HOXA1	142955	Bosley-Salih-Alorainy syndrome;Athabaskan brainstem dysgenesis syndrome	AR
HOXD10	142984	Vertical talus, congenital;Charcot-Marie-Tooth disease, foot deformity of	AD
HPCA	142622	Dystonia 2, torsion, AR	AR
HPD	609695	Hawkinsinuria;Tyrosinemia, type III	AD, AR
HPRT1	308000	Hyperuricemia, HRPT-related;Lesch-Nyhan syndrome	XLR
HPS1	604982	Hermansky-Pudlak syndrome 1	AR
HPS4	606682	Hermansky-Pudlak syndrome 4	AR
HPS5	607521	Hermansky-Pudlak syndrome 5	AR
HPS6	607522	Hermansky-Pudlak syndrome 6	AR
HRAS	190020	Thyroid carcinoma, follicular, somatic;Spitz nevus or nevus spilus, somatic;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic;Bladder cancer, somatic;Costello syndrome;Nevus sebaceous or woolly hair nevus, somatic;Congenital myopathy with excess of muscle spindles	AD
HSD11B1	600713	Cortisone reductase deficiency 2	AD
HSD17B10	300256	HSD10 MT disease	XLD
HSD17B4	601860	Perrault syndrome 1;D-bifunctional protein deficiency	AR
HSD3B2	613890	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	AR
HSPA9	600548	Even-plus syndrome;Anemia, sideroblastic, 4	AR, AD
HSPB1	602195	Neuronopathy, distal hereditary motor, type IIB;Charcot-Marie-Tooth disease, axonal, type 2F	AD
HSPB3	604624	?Neuronopathy, distal hereditary motor, type IIC	AD
HSPB8	608014	Neuronopathy, distal hereditary motor, type IIA;Charcot-Marie-Tooth disease, axonal, type 2L	AD
HSPD1	118190	Leukodystrophy, hypomyelinating, 4;Spastic paraplegia 13, AD	AR, AD
HSPG2	142461	Schwartz-Jampel syndrome, type 1;Dyssegmental dysplasia, Silverman-Handmaker type	AR
HTRA1	602194	Macular degeneration, age-related, 7;CARASIL syndrome;Cerebral arteriopathy, AD, with subcortical infarcts and leukoencephalopathy, type 2;Macular degeneration, age-related, neovascular type	AR, AD
HTRA2	606441	Parkinson disease 13;3-methylglutaconic aciduria, type VIII	AR
HUWE1	300697	Mental retardation, X-linked syndromic, Turner type	XL
HYAL1	607071	?Mucopolysaccharidosis type IX	AR
HYDIN	610812	Ciliary dyskinesia, primary, 5	AR
IARS2	612801	?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	AR
IBA57	615316	?Spastic paraplegia 74, AR;Multiple MT dysfunctions syndrome 3	AR
IDH2	147650	D-2-hydroxyglutaric aciduria 2
IDH3B	604526	Retinitis pigmentosa 46	AR
IDS	300823	Mucopolysaccharidosis II	XLR
IDUA	252800	Mucopolysaccharidosis Is;Mucopolysaccharidosis Ih/s;Mucopolysaccharidosis Ih	AR
IER3IP1	609382	Microcephaly, epilepsy, and diabetes syndrome	AR
IFIH1	606951	Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1	AD
IFT140	614620	Retinitis pigmentosa 80;Short-rib thoracic dysplasia 9 with or without polydactyly	AR
IFT172	607386	Retinitis pigmentosa 71;Bardet-Biedl syndrome 20;Short-rib thoracic dysplasia 10 with or without polydactyly	AR
IFT27	615870	?Bardet-Biedl syndrome 19	AR
IGBP1	300139	Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia	XLR
IGF1	147440	Growth retardation with deafness and mental retardation due to IGF1 deficiency	AR
IGF1R	147370	Insulin-like growth factor I, resistance to	AD, AR
IGHMBP2	600502	Neuronopathy, distal hereditary motor, type VI;Charcot-Marie-Tooth disease, axonal, type 2S	AR
IL1RAPL1	300206	Mental retardation, X-linked 21/34	XLR
IMPA1	602064	Mental retardation, autosomal recessive 59	AR
INF2	610982	Glomerulosclerosis, focal segmental, 5;Charcot-Marie-Tooth disease, dominant intermediate E	AD
INPP5E	613037	Mental retardation, truncal obesity, retinal dystrophy, and micropenis;Joubert syndrome 1	AR
INVS	243305	Nephronophthisis 2, infantile	AR
IQSEC2	300522	Mental retardation, X-linked 1/78	XLD
IRF2BPL	611720	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	AD
IRX5	606195	Hamamy syndrome	AR
ISCA1	611006	Multiple MT dysfunctions syndrome 5	AR
ISCA2	615317	Multiple MT dysfunctions syndrome 4	AR
ISCU	611911	Myopathy with lactic acidosis, hereditary	AR
ITGA7	600536	Muscular dystrophy, congenital, due to ITGA7 deficiency	AR
ITGB3	173470	Glanzmann thrombasthenia 2;Glanzmann thrombasthenia;Bleeding disorder, platelet-type, 16, AD;Myocardial infarction, susceptibility to;Bleeding disorder, platelet-type, 24, AD	AR, AD
ITM2B	603904	Dementia, familial British;?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities;Dementia, familial Danish	AD
ITPA	147520	Developmental and epileptic encephalopathy 35;[Inosine triphosphatase deficiency]	AR
ITPR1	147265	Spinocerebellar ataxia 15;Spinocerebellar ataxia 29, congenital nonprogressive;Gillespie syndrome	AD, AD, AR
IVD	607036	Isovaleric acidemia	AR
JAG1	601920	Alagille syndrome 1;Charcot-Marie-Tooth disease, axonal, type 2HH;?Deafness, congenital heart defects, and posterior embryotoxon;Tetralogy of Fallot	AD
JAM2	606870	Basal ganglia calcification, idiopathic, 8, AR	AR
JAM3	606871	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts	AR
KANK1	607704	Cerebral palsy, spastic quadriplegic, 2
KANSL1	612452	Koolen-De Vries syndrome	AD
KARS1	601421	?Charcot-Marie-Tooth disease, recessive intermediate, B;Deafness, congenital, and adult-onset progressive leukoencephalopathy;Leukoencephalopathy, progressive, infantile-onset, with or without deafness;Deafness, autosomal recessive 89	AR
KAT6A	601408	Arboleda-Tham syndrome	AD
KAT6B	605880	SBBYSS syndrome;Genitopatellar syndrome	AD
KAT8	609912	Li-Ghorgani-Weisz-Hubshman syndrome	AD
KATNB1	602703	Lissencephaly 6, with microcephaly	AR
KBTBD13	613727	Nemaline myopathy 6, AD	AD
KCNA1	176260	Episodic ataxia/myokymia syndrome	AD
KCNA2	176262	Developmental and epileptic encephalopathy 32	AD
KCNB1	600397	Developmental and epileptic encephalopathy 26	AD
KCNC1	176258	Epilepsy, progressive myoclonic 7	AD
KCNC3	176264	Spinocerebellar ataxia 13	AD
KCND3	605411	Brugada syndrome 9;Spinocerebellar ataxia 19	AD
KCNE3	604433	?Brugada syndrome 6
KCNH1	603305	Zimmermann-Laband syndrome 1;Temple-Baraitser syndrome	AD
KCNJ1	600359	Bartter syndrome, type 2	AR
KCNJ10	602208	Enlarged vestibular aqueduct, digenic;SESAME syndrome	AR
KCNJ2	600681	Short QT syndrome 3;Atrial fibrillation, familial, 9;Andersen syndrome	AD
KCNK18	613655	Migraine, with or without aura, susceptibility to, 13	AD
KCNK4	605720	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	AD
KCNK9	605874	Birk-Barel syndrome
KCNMA1	600150	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy;Epilepsy, idiopathic generalized, susceptibility to, 16;Liang-Wang syndrome;Cerebellar atrophy, developmental delay, and seizures	AD, AR
KCNQ2	602235	Seizures, benign neonatal, 1;Developmental and epileptic encephalopathy 7;Myokymia	AD
KCNQ3	602232	Seizures, benign neonatal, 2	AD
KCNQ5	607357	Mental retardation, AD 46	AD
KCNT1	608167	Developmental and epileptic encephalopathy 14;Epilepsy nocturnal frontal lobe, 5	AD
KCNT2	610044	?Developmental and epileptic encephalopathy 57	AD
KCTD17	616386	Dystonia 26, myoclonic	AD
KCTD3	613272
KCTD7	611725	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions	AR
KDM4B	609765	Intellectual developmental disorder, AD 65	AD
KDM5B	605393	Mental retardation, autosomal recessive 65	AR
KDM5C	314690	Mental retardation, X-linked, syndromic, Claes-Jensen type	XLR
KDM6A	300128	Kabuki syndrome 2	XLD
KIAA1109	611565	Alkuraya-Kucinskas syndrome	AR
KIDINS220	615759	Ventriculomegaly and arthrogryposis;Spastic paraplegia, intellectual disability, nystagmus, and obesity	AR, AD
KIF11	148760	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	AD
KIF14	611279	?Meckel syndrome 12;Microcephaly 20, primary, AR	AR
KIF1A	601255	NESCAV syndrome;Spastic paraplegia 30, AR;Neuropathy, hereditary sensory, type IIC;Spastic paraplegia 30, AD	AD, AD, AR, AR
KIF1B	605995	?Charcot-Marie-Tooth disease, type 2A1;Pheochromocytoma;Neuroblastoma, susceptibility to, 1	AD, AD, SM
KIF1C	603060	Spastic ataxia 2, AR	AR
KIF21A	608283	Fibrosis of extraocular muscles, congenital, 3B;Fibrosis of extraocular muscles, congenital, 1	AD
KIF2A	602591	Cortical dysplasia, complex, with other brain malformations 3	AD
KIF5A	602821	Amyotrophic lateral sclerosis, susceptibility to, 25;Myoclonus, intractable, neonatal;Spastic paraplegia 10, AD	AD
KIF5C	604593	Cortical dysplasia, complex, with other brain malformations 2	AD
KIF7	611254	Joubert syndrome 12;?Hydrolethalus syndrome 2;?Al-Gazali-Bakalinova syndrome;Acrocallosal syndrome	AR
KIFBP	609367	Goldberg-Shprintzen megacolon syndrome	AR
KIRREL3	607761
KLHL40	615340	Nemaline myopathy 8, AR	AR
KLHL41	607701	Nemaline myopathy 9	AR
KLHL7	611119	PERCHING syndrome;Retinitis pigmentosa 42	AR, AD
KMT2A	159555	Wiedemann-Steiner syndrome	AD
KMT2B	606834	Dystonia 28, childhood-onset	AD
KMT2C	606833	Kleefstra syndrome 2	AD
KMT2D	602113	Kabuki syndrome 1	AD
KMT2E	608444	O'Donnell-Luria-Rodan syndrome	AD
KMT5B	610881	Mental retardation, AD 51	AD
KNL1	609173	Microcephaly 4, primary, AR	AR
KPTN	615620	Mental retardation, autosomal recessive 41	AR
KRAS	190070	Arteriovenous malformation of the brain, somatic;Gastric cancer, somatic;Oculoectodermal syndrome, somatic;RAS-associated autoimmune leukoproliferative disorder;Pancreatic carcinoma, somatic;Lung cancer, somatic;Cardiofaciocutaneous syndrome 2;Bladder cancer, somatic;Leukemia, acute myeloid, somatic;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic;Breast cancer, somatic;Noonan syndrome 3	AD
KRIT1	604214	Cavernous malformations of CNS and retina;Cerebral cavernous malformations-1;Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations	AD
KRT5	148040	Epidermolysis bullosa simplex-MP;Epidermolysis bullosa simplex, Koebner type;Epidermolysis bullosa simplex, recessive 1;Epidermolysis bullosa simplex, Weber-Cockayne type;Epidermolysis bullosa simplex 2B, generalized intermediate;Epidermolysis bullosa simplex 2A, generalized severe;Epidermolysis bullosa simplex-MCR;Dowling-Degos disease 1;Epidermolysis bullosa simplex 2C, localized;Epidermolysis bullosa simplex, Dowling-Meara type;Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, AR	AD, AR
KRT8	148060	Cirrhosis, cryptogenic;Cirrhosis, noncryptogenic, susceptibility to	AR
KY	605739	Myopathy, myofibrillar, 7	AR
L1CAM	308840	Hydrocephalus with congenital idiopathic intestinal pseudoobstruction;CRASH syndrome;Corpus callosum, partial agenesis of;Hydrocephalus with Hirschsprung disease;MASA syndrome;Hydrocephalus due to aqueductal stenosis	XLR
L2HGDH	609584	L-2-hydroxyglutaric aciduria	AR
LAMA1	150320	Poretti-Boltshauser syndrome	AR
LAMA2	156225	Muscular dystrophy, congenital, merosin deficient or partially deficient;Muscular dystrophy, limb-girdle, autosomal recessive 23	AR
LAMB1	150240	Lissencephaly 5	AR
LAMB2	150325	Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome	AR
LAMC3	604349	Cortical malformations, occipital	AR
LAMP2	309060	Danon disease	XLD
LARGE1	603590	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6	AR
LARS2	604544	?Hydrops, lactic acidosis, and sideroblastic anemia;Perrault syndrome 4	AR
LAT	602354	Immunodeficiency 52	AR
LBR	600024	?Reynolds syndrome;Greenberg skeletal dysplasia;Pelger-Huet anomaly;Pelger-Huet anomaly with mild skeletal anomalies	AD, AR
LDB3	605906	Cardiomyopathy, hypertrophic, 24;Myopathy, myofibrillar, 4;Cardiomyopathy, dilated, 1C, with or without LVNC;Left ventricular noncompaction 3	AD
LDHA	150000	Glycogen storage disease XI	AR
LEP	164160	Obesity, morbid, due to leptin deficiency	AR
LGI1	604619	Epilepsy, familial temporal lobe, 1	AD
LGI4	608303	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	AR
LHX3	600577	Pituitary hormone deficiency, combined, 3	AR
LHX4	602146	Pituitary hormone deficiency, combined, 4	AD
LIAS	607031	Hyperglycinemia, lactic acidosis, and seizures	AR
LIMS2	607908	?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue	AR
LINS1	610350	Mental retardation, autosomal recessive 27	AR
LIPA	613497	Wolman disease;Cholesteryl ester storage disease	AR
LIPT1	610284	Lipoyltransferase 1 deficiency	AR
LIPT2	617659	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	AR
LITAF	603795	Charcot-Marie-Tooth disease, type 1C	AD
LMAN2L	609552	?Mental retardation, autosomal recessive, 52	AR
LMBRD1	612625	Methylmalonic aciduria and homocystinuria, cblF type	AR
LMNA	150330	Malouf syndrome;Emery-Dreifuss muscular dystrophy 3, AR;Emery-Dreifuss muscular dystrophy 2, AD;Hutchinson-Gilford progeria;Muscular dystrophy, congenital;Restrictive dermopathy, lethal;Lipodystrophy, familial partial, type 2;Charcot-Marie-Tooth disease, type 2B1;Mandibuloacral dysplasia;Cardiomyopathy, dilated, 1A;Heart-hand syndrome, Slovenian type	AD, AR
LMNB1	150340	Leukodystrophy, adult-onset, AD;Microcephaly 26, primary, AD	AD
LMOD3	616112	Nemaline myopathy 10	AR
LMX1B	602575	Nail-patella syndrome;Focal segmental glomerulosclerosis 10	AD
LONP1	605490	CODAS syndrome	AR
LPIN1	605518	Myoglobinuria, acute recurrent, AR	AR
LRBA	606453	Immunodeficiency, common variable, 8, with autoimmunity	AR
LRP1	107770	?Keratosis pilaris atrophicans	AR
LRP10	609921
LRP2	600073	Donnai-Barrow syndrome	AR
LRP4	604270	?Myasthenic syndrome, congenital, 17;Cenani-Lenz syndactyly syndrome;Sclerosteosis 2	AR, AD, AR
LRPPRC	607544	MT complex IV deficiency, nuclear type 5, (French-Canadian)	AR
LRRK2	609007	Parkinson disease 8	AD
LRSAM1	610933	Charcot-Marie-Tooth disease, axonal, type 2P	AD, AR
LYRM7	615831	MT complex III deficiency, nuclear type 8	AR
LYST	606897	Chediak-Higashi syndrome	AR
LZTFL1	606568	Bardet-Biedl syndrome 17	AR
LZTR1	600574	Noonan syndrome 2;Schwannomatosis-2, susceptibility to;Noonan syndrome 10	AR, AD
MACF1	608271	Lissencephaly 9 with complex brainstem malformation	AD
MAF	177075	Ayme-Gripp syndrome;Cataract 21, multiple types	AD
MAG	159460	Spastic paraplegia 75, AR	AR
MAGEL2	605283	Schaaf-Yang syndrome	AD
MAGI2	606382	Nephrotic syndrome, type 15	AR
MAGT1	300715	Congenital disorder of glycosylation, type Icc;Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia	XLR
MAMLD1	300120	Hypospadias 2, XL	XLR
MAN1B1	604346	Rafiq syndrome	AR
MAN2B1	609458	Mannosidosis, alpha-, types I and II	AR
MANBA	609489	Mannosidosis, beta	AR
MAOA	309850	Antisocial behavior;Brunner syndrome	XLR
MAP2K1	176872	Cardiofaciocutaneous syndrome 3;Melorheostosis, isolated, somatic mosaic	AD
MAP2K2	601263	Cardiofaciocutaneous syndrome 4	AD
MAPT	157140	Parkinson disease, susceptibility to;Pick disease;Dementia, frontotemporal, with or without parkinsonism;Supranuclear palsy, progressive;Supranuclear palsy, progressive atypical	AD, MF, AD, AR
MARS1	156560	Charcot-Marie-Tooth disease, axonal, type 2U;?Trichothiodystrophy 9, nonphotosensitive;Interstitial lung and liver disease	AD, AR
MARS2	609728	Spastic ataxia 3, AR;?Combined oxidative phosphorylation deficiency 25	AR
MASP1	600521	3MC syndrome 1	AR
MATR3	164015	Amyotrophic lateral sclerosis 21	AD
MBD5	611472	Mental retardation, AD 1	AD
MBOAT7	606048	Mental retardation, autosomal recessive 57	AR
MBTPS2	300294	Osteogenesis imperfecta, type XIX;?Olmsted syndrome, X-linked;Keratosis follicularis spinulosa decalvans, X-linked;IFAP syndrome with or without BRESHECK syndrome	XLR
MCCC1	609010	3-Methylcrotonyl-CoA carboxylase 1 deficiency	AR
MCCC2	609014	3-Methylcrotonyl-CoA carboxylase 2 deficiency	AR
MCEE	608419	Methylmalonyl-CoA epimerase deficiency	AR
MCM4	602638	Immunodeficiency 54	AR
MCM6	601806	Lactase persistence/nonpersistence	AD
MCOLN1	605248	Mucolipidosis IV	AR
MCPH1	607117	Microcephaly 1, primary, AR	AR
MDH2	154100	Developmental and epileptic encephalopathy 51	AR
MECP2	300005	Rett syndrome, preserved speech variant;Encephalopathy, neonatal severe;Mental retardation, X-linked, syndromic 13;Rett syndrome;Mental retardation, X-linked syndromic, Lubs type;Rett syndrome, atypical;Autism susceptibility, X-linked 3	XLD, XLR, XL
MECR	608205	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	AR
MED12	300188	Opitz-Kaveggia syndrome;Lujan-Fryns syndrome;Ohdo syndrome, X-linked;Hardikar syndrome	XLR, XLD
MED13	603808	Intellectual developmental disorder 61	AD
MED13L	608771	Transposition of the great arteries, dextro-looped 1;Mental retardation and distinctive facial features with or without cardiac defects	AD
MED17	603810	Microcephaly, postnatal progressive, with seizures and brain atrophy	AR
MED23	605042	Mental retardation, autosomal recessive 18	AR
MED25	610197	Basel-Vanagait-Smirin-Yosef syndrome	AR
MEF2C	600662	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations;Chromosome 5q14.3 deletion syndrome	AD
MEGF10	612453	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant	AR
MEIS2	601740	Cleft palate, cardiac defects, and mental retardation	AD
METTL23	615262	Mental retardation, autosomal recessive 44	AR
MFF	614785	Encephalopathy due to defective MT and peroxisomal fission 2	AR
MFN2	608507	Hereditary motor and sensory neuropathy VIA;Charcot-Marie-Tooth disease, axonal, type 2A2B;Charcot-Marie-Tooth disease, axonal, type 2A2A	AD, AR
MFRP	606227	Microphthalmia, isolated 5;Nanophthalmos 2	AR
MFSD2A	614397	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities	AR
MFSD8	611124	Ceroid lipofuscinosis, neuronal, 7;Macular dystrophy with central cone involvement	AR
MGAT2	602616	Congenital disorder of glycosylation, type IIa	AR
MGME1	615076	MT DNA depletion syndrome 11	AR
MIB1	608677	Left ventricular noncompaction 7	AD
MICU1	605084	Myopathy with extrapyramidal signs	AR
MID1	300552	Opitz GBBB syndrome, type I	XLR
MIPEP	602241	Combined oxidative phosphorylation deficiency 31	AR
MITF	156845	Melanoma, cutaneous malignant, susceptibility to, 8;Waardenburg syndrome, type 2A;Waardenburg syndrome/ocular albinism, digenic;Tietz albinism-deafness syndrome;COMMAD syndrome	AD, AR
MKKS	604896	McKusick-Kaufman syndrome;Bardet-Biedl syndrome 6	AR
MKS1	609883	Bardet-Biedl syndrome 13;Joubert syndrome 28;Meckel syndrome 1	AR
MLC1	605908	Megalencephalic leukoencephalopathy with subcortical cysts	AR
MLPH	606526	Griscelli syndrome, type 3	AR
MLYCD	606761	Malonyl-CoA decarboxylase deficiency	AR
MMAA	607481	Methylmalonic aciduria, vitamin B12-responsive	AR
MMAB	607568	Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	AR
MMACHC	609831	Methylmalonic aciduria and homocystinuria, cblC type	AR
MMADHC	611935	Methylmalonic aciduria and homocystinuria, cblD type;Methylmalonic aciduria, cblD type, variant 2;Homocystinuria, cblD type, variant 1	AR
MMUT	609058	Methylmalonic aciduria, mut(0) type	AR
MOCS1	603707	Molybdenum cofactor deficiency A	AR
MOCS2	603708	Molybdenum cofactor deficiency B	AR
MOGS	601336	Congenital disorder of glycosylation, type IIb	AR
MPC1	614738	MT pyruvate carrier deficiency	AR
MPDU1	604041	Congenital disorder of glycosylation, type If	AR
MPDZ	603785	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	AR
MPI	154550	Congenital disorder of glycosylation, type Ib	AR
MPV17	137960	Charcot-Marie-Tooth disease, axonal, type 2EE;MT DNA depletion syndrome 6 (hepatocerebral type)	AR
MPZ	159440	Charcot-Marie-Tooth disease, type 2I;Dejerine-Sottas disease;Hypomyelinating neuropathy, congenital, 2;Charcot-Marie-Tooth disease, type 2J;Charcot-Marie-Tooth disease, dominant intermediate D;Charcot-Marie-Tooth disease, type 1B;Roussy-Levy syndrome	AD, AD, AR
MRE11	600814	Ataxia-telangiectasia-like disorder 1	AR
MRPL3	607118	Combined oxidative phosphorylation deficiency 9	AR
MRPL44	611849	?Combined oxidative phosphorylation deficiency 16	AR
MRPS16	609204	Combined oxidative phosphorylation deficiency 2	AR
MRPS2	611971	Combined oxidative phosphorylation deficiency 36	AR
MRPS22	605810	Ovarian dysgenesis 7;Combined oxidative phosphorylation deficiency 5	AR
MRPS34	611994	Combined oxidative phosphorylation deficiency 32	AR
MSMO1	607545	Microcephaly, congenital cataract, and psoriasiform dermatitis	AR
MSR1	153622	Barrett esophagus/esophageal adenocarcinoma
MSRB3	613719	Deafness, autosomal recessive 74	AR
MSTO1	617619	Myopathy, MT, and ataxia	AD, AR
MSX1	142983	Orofacial cleft 5;Tooth agenesis, selective, 1, with or without orofacial cleft;Ectodermal dysplasia 3, Witkop type	AD
MSX2	123101	Parietal foramina with cleidocranial dysplasia;Parietal foramina 1;Craniosynostosis 2	AD
MTFMT	611766	Combined oxidative phosphorylation deficiency 15;MT complex I deficiency, nuclear type 27	AR
MTHFD1	172460	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia;Neural tube defects, folate-sensitive, susceptibility to	AR
MTHFR	607093	Neural tube defects, susceptibility to;Homocystinuria due to MTHFR deficiency;Schizophrenia, susceptibility to;Thromboembolism, susceptibility to	AR, AD
MTHFS	604197	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	AR
MTM1	300415	Myotubular myopathy, XL	XLR
MTMR14	611089	Centronuclear myopathy, autosomal, modifier of	AD
MTMR2	603557	Charcot-Marie-Tooth disease, type 4B1	AR
MTO1	614667	Combined oxidative phosphorylation deficiency 10	AR
MTOR	601231	Focal cortical dysplasia, type II, somatic;Smith-Kingsmore syndrome	AD
MTPAP	613669	?Spastic ataxia 4, AR	AR
MTR	156570	Neural tube defects, folate-sensitive, susceptibility to;Homocystinuria-megaloblastic anemia, cblG complementation type	AR
MTRFR	613541	Spastic paraplegia 55, AR;Combined oxidative phosphorylation deficiency 7	AR
MTRR	602568	Homocystinuria-megaloblastic anemia, cbl E type;Neural tube defects, folate-sensitive, susceptibility to	AR
MTTP	157147	Metabolic syndrome, protection against;Abetalipoproteinemia	AD, AR
MUSK	601296	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Fetal akinesia deformation sequence 1	AR
MYBPC1	160794	Arthrogryposis, distal, type 1B;Lethal congenital contracture syndrome 4;Myopathy, congenital, with tremor	AD, AR
MYBPC3	600958	Cardiomyopathy, hypertrophic, 4;Cardiomyopathy, dilated, 1MM;Left ventricular noncompaction 10	AD, AR, AD
MYCN	164840	Feingold syndrome 1	AD
MYH2	160740	Proximal myopathy and ophthalmoplegia	AD, AR
MYH3	160720	Arthrogryposis, distal, type 2B3 (Sheldon-Hall);Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B;Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A;Arthrogryposis, distal, type 2A (Freeman-Sheldon)	AD, AR
MYH7	160760	Myopathy, myosin storage, AR;Scapuloperoneal syndrome, myopathic type;Left ventricular noncompaction 5;Cardiomyopathy, dilated, 1S;Cardiomyopathy, hypertrophic, 1;Myopathy, myosin storage, AD;Laing distal myopathy	AR, AD, AD, DD
MYH8	160741	Trismus-pseudocamptodactyly syndrome;Carney complex variant	AD
MYL1	160780	Myopathy, congenital, with fast-twitch (type II) fiber atrophy	AR
MYL2	160781	Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy;Cardiomyopathy, hypertrophic, 10	AR, AD
MYMK	615345	Carey-Fineman-Ziter syndrome	AR
MYO18B	607295	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism	AR
MYO1E	601479	Glomerulosclerosis, focal segmental, 6	AR
MYO5A	160777	Griscelli syndrome, type 1	AR
MYO9A	604875	Myasthenic syndrome, congenital, 24, presynaptic	AR
MYO9B	602129	Celiac disease, susceptibility to, 4
MYORG	618255	Basal ganglia calcification, idiopathic, 7, AR	AR
MYOT	604103	Myopathy, myofibrillar, 3;Myopathy, spheroid body	AD
MYPN	608517	Cardiomyopathy, hypertrophic, 22;Cardiomyopathy, dilated, 1KK;Cardiomyopathy, familial restrictive, 4;Nemaline myopathy 11, AR	AD, AR
MYT1L	613084	Mental retardation, AD 39	AD
NAA10	300013	Ogden syndrome;Microphthalmia, syndromic 1	XLD, XLR, XL
NAA15	608000	Mental retardation, AD 50	AD
NACC1	610672	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	AD
NADK2	615787	2,4-dienoyl-CoA reductase deficiency	AR
NAGA	104170	Schindler disease, type III;Kanzaki disease;Schindler disease, type I	AR
NAGLU	609701	?Charcot-Marie-Tooth disease, axonal, type 2V;Mucopolysaccharidosis type IIIB (Sanfilippo B)	AD, AR
NAGS	608300	N-acetylglutamate synthase deficiency	AR
NALCN	611549	Congenital contractures of the limbs and face, hypotonia, and developmental delay;Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	AD, AR
NARS2	612803	?Deafness, autosomal recessive 94;Combined oxidative phosphorylation deficiency 24	AR
NAXD	615910	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	AR
NAXE	608862	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	AR
NBAS	608025	Short stature, optic nerve atrophy, and Pelger-Huet anomaly;Infantile liver failure syndrome 2	AR
NBEA	604889	Neurodevelopmental disorder with or without early-onset generalized epilepsy	AD
NCAPD3	609276	Microcephaly 22, primary, AR	AR
NDE1	609449	Lissencephaly 4 (with microcephaly);?Microhydranencephaly	AR
NDP	300658	Norrie disease;Exudative vitreoretinopathy 2, XL	XLR, XLD, XLR
NDRG1	605262	Charcot-Marie-Tooth disease, type 4D	AR
NDST1	600853	Mental retardation, autosomal recessive 46	AR
NDUFA1	300078	MT complex I deficiency, nuclear type 12	XLR
NDUFA10	603835	MT complex I deficiency, nuclear type 22	AR
NDUFA11	612638	MT complex I deficiency, nuclear type 14	AR
NDUFA12	614530	?MT complex I deficiency, nuclear type 23	AR
NDUFA2	602137	MT complex I deficiency, nuclear type 13	AR
NDUFA6	602138	MT complex I deficiency, nuclear type 33	AR
NDUFA9	603834	MT complex I deficiency, nuclear type 26	AR
NDUFAF1	606934	MT complex I deficiency, nuclear type 11	AR
NDUFAF2	609653	MT complex I deficiency, nuclear type 10	AR
NDUFAF3	612911	MT complex I deficiency, nuclear type 18	AR
NDUFAF4	611776	MT complex I deficiency, nuclear type 15	AR
NDUFAF5	612360	MT complex I deficiency, nuclear type 16	AR
NDUFAF6	612392	MT complex I deficiency, nuclear type 17;Fanconi renotubular syndrome 5	AR
NDUFB11	300403	Linear skin defects with multiple congenital anomalies 3;?MT complex I deficiency, nuclear type 30	XLD, XL
NDUFB3	603839	MT complex I deficiency, nuclear type 25	AR
NDUFB8	602140	MT complex I deficiency, nuclear type 32	AR
NDUFB9	601445	?MT complex I deficiency, nuclear type 24	AR
NDUFS1	157655	MT complex I deficiency, nuclear type 5	AR
NDUFS2	602985	MT complex I deficiency, nuclear type 6	AR
NDUFS3	603846	MT complex I deficiency, nuclear type 8	AR
NDUFS4	602694	MT complex I deficiency, nuclear type 1	AR
NDUFS6	603848	MT complex I deficiency, nuclear type 9	AR
NDUFS7	601825	MT complex I deficiency, nuclear type 3	AR
NDUFS8	602141	MT complex I deficiency, nuclear type 2	AR
NDUFV1	161015	MT complex I deficiency, nuclear type 4	AR
NDUFV2	600532	MT complex I deficiency, nuclear type 7	AR
NEB	161650	Nemaline myopathy 2, AR;Arthrogryposis multiplex congenita 6	AR
NECAP1	611623	Developmental and epileptic encephalopathy 21	AR
NECTIN1	600644	Orofacial cleft 7;Cleft lip/palate-ectodermal dysplasia syndrome	AR
NEDD4L	606384	Periventricular nodular heterotopia 7	AD
NEFH	162230	Charcot-Marie-Tooth disease, axonal, type 2CC;?Amyotrophic lateral sclerosis, susceptibility to	AD, AD, AR
NEK1	604588	Short-rib thoracic dysplasia 6 with or without polydactyly;Amyotrophic lateral sclerosis, susceptibility to, 24	AR, DR, AD
NEK10	618726	Ciliary dyskinesia, primary, 44	AR
NEU1	608272	Sialidosis, type I;Sialidosis, type II	AR
NEUROD2	601725	Developmental and epileptic encephalopathy 72	AD
NEXMIF	300524	Mental retardation, X-linked 98	XLD
NF1	613113	Watson syndrome;Leukemia, juvenile myelomonocytic;Neurofibromatosis, type 1;Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome	AD, AD, SM
NFE2L2	600492	Immunodeficiency, developmental delay, and hypohomocysteinemia	AD
NFIA	600727	Brain malformations with or without urinary tract defects	AD
NFIB	600728	Macrocephaly, acquired, with impaired intellectual development	AD
NFIX	164005	Marshall-Smith syndrome;Sotos syndrome 2	AD
NFU1	608100	Multiple MT dysfunctions syndrome 1	AR
NGF	162030	Neuropathy, hereditary sensory and autonomic, type V	AR
NGLY1	610661	Congenital disorder of deglycosylation	AR
NHEJ1	611290	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
NHLRC1	608072	Epilepsy, progressive myoclonic 2B (Lafora)	AR
NHS	300457	Nance-Horan syndrome;Cataract 40, XL	XLD, XL
NIPA1	608145	Spastic paraplegia 6, AD	AD
NIPBL	608667	Cornelia de Lange syndrome 1	AD
NKX6-2	605955	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	AR
NLGN3	300336	Autism susceptibility, X-linked 1;Asperger syndrome susceptibility, X-linked 1	XL, IC, MF, XL
NLGN4X	300427	Asperger syndrome susceptibility, X-linked 2;Autism susceptibility, X-linked 2;Mental retardation, XL	XL, IC, MF, XL
NLRP12	609648	Familial cold autoinflammatory syndrome 2	AD
NLRP3	606416	CINCA syndrome;Deafness, AD 34, with or without inflammation;Keratoendothelitis fugax hereditaria;Familial cold inflammatory syndrome 1;Muckle-Wells syndrome	AD
NNT	607878	Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency	AR
NOTCH1	190198	Adams-Oliver syndrome 5;Aortic valve disease 1	AD
NOTCH2	600275	Alagille syndrome 2;Hajdu-Cheney syndrome	AD
NOTCH3	600276	?Myofibromatosis, infantile 2;Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1;Lateral meningocele syndrome	AD
NPC1	607623	Niemann-Pick disease, type C1;Niemann-Pick disease, type D	AR
NPC2	601015	Niemann-pick disease, type C2	AR
NPHP1	607100	Joubert syndrome 4;Nephronophthisis 1, juvenile;Senior-Loken syndrome-1	AR
NPHP3	608002	Nephronophthisis 3;Meckel syndrome 7;Renal-hepatic-pancreatic dysplasia 1	AR
NPR2	108961	Acromesomelic dysplasia, Maroteaux type;Short stature with nonspecific skeletal abnormalities;Epiphyseal chondrodysplasia, Miura type	AR, AD
NPRL2	607072	Epilepsy, familial focal, with variable foci 2	AD
NPRL3	600928	Epilepsy, familial focal, with variable foci 3	AD
NR2F1	132890	Bosch-Boonstra-Schaaf optic atrophy syndrome	AD
NR3C2	600983	Hypertension, early-onset, AD, with exacerbation in pregnancy;Pseudohypoaldosteronism type I, AD	AD
NRXN1	600565	Schizophrenia, susceptibility to, 17;Pitt-Hopkins-like syndrome 2	AR
NSD1	606681	Sotos syndrome 1	AD
NSD2	602952	Rauch-Steindl syndrome	AD
NSDHL	300275	CK syndrome;CHILD syndrome	XLR, XLD
NSMCE3	608243	Lung disease, immunodeficiency, and chromosome breakage syndrome	AR
NSUN2	610916	Mental retardation, autosomal recessive 5	AR
NT5C2	600417	Spastic paraplegia 45, AR	AR
NTHL1	602656	Familial adenomatous polyposis 3	AR
NTRK1	191315	Insensitivity to pain, congenital, with anhidrosis	AR
NTRK2	600456	Developmental and epileptic encephalopathy 58;Obesity, hyperphagia, and developmental delay	AD
NUBPL	613621	MT complex I deficiency, nuclear type 21	AR
NUP133	607613	Nephrotic syndrome, type 18;?Galloway-Mowat syndrome 8	AR
NUP62	605815	Striatonigral degeneration, infantile	AR
NUS1	610463	?Congenital disorder of glycosylation, type 1aa;Mental retardation, AD 55, with seizures	AR, AD
OAT	613349	Gyrate atrophy of choroid and retina with or without ornithinemia	AR
OCLN	602876	Pseudo-TORCH syndrome 1	AR
OCRL	300535	Lowe syndrome;Dent disease 2	XLR
ODAD4	617095	Ciliary dyskinesia, primary, 35	AR
OFD1	300170	Joubert syndrome 10;Simpson-Golabi-Behmel syndrome, type 2;?Retinitis pigmentosa 23;Orofaciodigital syndrome I	XLR, XLD
OGDH	613022	Alpha-ketoglutarate dehydrogenase deficiency	AR
OPA1	605290	Optic atrophy 1;?MT DNA depletion syndrome 14 (encephalocardiomyopathic type);Glaucoma, normal tension, susceptibility to;Optic atrophy plus syndrome;Behr syndrome	AD, AR
OPA3	606580	3-methylglutaconic aciduria, type III;Optic atrophy 3 with cataract	AR, AD
OPHN1	300127	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	XLR
OPTN	602432	Glaucoma, normal tension, susceptibility to;Glaucoma 1, open angle, E;Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia	AD
ORC1	601902	Meier-Gorlin syndrome 1	AR
OSGEP	610107	Galloway-Mowat syndrome 3	AR
OTC	300461	Ornithine transcarbamylase deficiency	XL
OTUD6B	612021	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	AR
OXCT1	601424	Succinyl CoA:3-oxoacid CoA transferase deficiency	AR
P4HA2	600608	Myopia 25, AD	AD
P4HB	176790	Cole-Carpenter syndrome 1	AD
P4HTM	614584	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	AR
PACS1	607492	Schuurs-Hoeijmakers syndrome	AD
PACS2	610423	Developmental and epileptic encephalopathy 66	AD
PAFAH1B1	601545	Subcortical laminar heterotopia;Lissencephaly 1	AD
PAH	612349	Phenylketonuria;[Hyperphenylalaninemia, non-PKU mild]	AR
PAK1	602590	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	AD
PAK3	300142	Mental retardation, X-linked 30/47	XLR
PAM16	614336	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type	AR
PANK2	606157	HARP syndrome;Neurodegeneration with brain iron accumulation 1	AR
PARK7	602533	Parkinson disease 7, autosomal recessive early-onset	AR
PARS2	612036	Developmental and epileptic encephalopathy 75	AR
PAX3	606597	Waardenburg syndrome, type 3;Rhabdomyosarcoma 2, alveolar;Craniofacial-deafness-hand syndrome;Waardenburg syndrome, type 1	AD, AR, SM, AD
PAX6	607108	?Coloboma, ocular;Aniridia;?Morning glory disc anomaly;Keratitis;Optic nerve hypoplasia;?Coloboma of optic nerve;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy;Foveal hypoplasia 1	AD
PAX7	167410	Myopathy, congenital, progressive, with scoliosis;Rhabdomyosarcoma 2, alveolar	AR, SM
PBX1	176310	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	AD
PC	608786	Pyruvate carboxylase deficiency	AR
PCBD1	126090	Hyperphenylalaninemia, BH4-deficient, D	AR
PCCA	232000	Propionicacidemia	AR
PCCB	232050	Propionicacidemia	AR
PCDH12	605622	Diencephalic-mesencephalic junction dysplasia syndrome 1	AR
PCDH15	605514	Usher syndrome, type 1D/F digenic;Deafness, autosomal recessive 23;Usher syndrome, type 1F	AR, DR, AR
PCDH19	300460	Developmental and epileptic encephalopathy 9	XL
PCK2	614095	PEPCK deficiency, MT	AR
PCNT	605925	Microcephalic osteodysplastic primordial dwarfism, type II	AR
PCYT2	602679	Spastic paraplegia 82, AR	AR
PDCD1	600244	Systemic lupus erythematosus, susceptibility to, 2;Multiple sclerosis, disease progression, modifier of	MF
PDCD10	609118	Cerebral cavernous malformations 3	AD
PDE10A	610652	Dyskinesia, limb and orofacial, infantile-onset;Striatal degeneration, AD	AR, AD
PDE6D	602676	Joubert syndrome 22	AR
PDE8B	603390	Striatal degeneration, AD;Pigmented nodular adrenocortical disease, primary, 3	AD
PDGFB	190040	Meningioma, SIS-related;Basal ganglia calcification, idiopathic, 5;Dermatofibrosarcoma protuberans	AD
PDGFRB	173410	Myeloproliferative disorder with eosinophilia;Myofibromatosis, infantile, 1;Premature aging syndrome, Penttinen type;Basal ganglia calcification, idiopathic, 4;Kosaki overgrowth syndrome	AD
PDHA1	300502	Pyruvate dehydrogenase E1-alpha deficiency	XLD
PDHB	179060	Pyruvate dehydrogenase E1-beta deficiency	AR
PDHX	608769	Lacticacidemia due to PDX1 deficiency	AR
PDK3	300906	?Charcot-Marie-Tooth disease, XLD, 6	XLD
PDP1	605993	Pyruvate dehydrogenase phosphatase deficiency	AR
PDSS1	607429	Coenzyme Q10 deficiency, primary, 2	AR
PDSS2	610564	Coenzyme Q10 deficiency, primary, 3	AR
PDX1	600733	Pancreatic agenesis 1;MODY, type IV;Diabetes mellitus, type II, susceptibility to	AR, AD
PDYN	131340	Spinocerebellar ataxia 23	AD
PER2	603426	?Advanced sleep phase syndrome, familial, 1	AD
PET100	614770	MT complex IV deficiency, nuclear type 12	AR
PEX1	602136	Peroxisome biogenesis disorder 1A (Zellweger);Peroxisome biogenesis disorder 1B (NALD/IRD);Heimler syndrome 1	AR
PEX10	602859	Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B	AR
PEX11B	603867	Peroxisome biogenesis disorder 14B	AR
PEX12	601758	Peroxisome biogenesis disorder 3B;Peroxisome biogenesis disorder 3A (Zellweger)	AR
PEX13	601789	Peroxisome biogenesis disorder 11B;Peroxisome biogenesis disorder 11A (Zellweger)	AR
PEX14	601791	Peroxisome biogenesis disorder 13A (Zellweger)	AR
PEX16	603360	Peroxisome biogenesis disorder 8A (Zellweger);Peroxisome biogenesis disorder 8B	AR
PEX19	600279	Peroxisome biogenesis disorder 12A (Zellweger)	AR
PEX2	170993	Peroxisome biogenesis disorder 5B;Peroxisome biogenesis disorder 5A (Zellweger)	AR
PEX26	608666	Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B	AR
PEX3	603164	Peroxisome biogenesis disorder 10A (Zellweger);?Peroxisome biogenesis disorder 10B	AR
PEX5	600414	Rhizomelic chondrodysplasia punctata, type 5;Peroxisome biogenesis disorder 2B;Peroxisome biogenesis disorder 2A (Zellweger)	AR
PEX6	601498	Peroxisome biogenesis disorder 4B;Peroxisome biogenesis disorder 4A (Zellweger);Heimler syndrome 2	AD, AR, AR
PEX7	601757	Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata, type 1	AR
PFKM	610681	Glycogen storage disease VII	AR
PFN1	176610	Amyotrophic lateral sclerosis 18
PGAM2	612931	Glycogen storage disease X	AR
PGAP1	611655	Mental retardation, autosomal recessive 42	AR
PGAP2	615187	Hyperphosphatasia with mental retardation syndrome 3	AR
PGK1	311800	Phosphoglycerate kinase 1 deficiency	XLR
PGM1	171900	Congenital disorder of glycosylation, type It	AR
PHACTR1	608723	Developmental and epileptic encephalopathy 70	AD
PHF6	300414	Borjeson-Forssman-Lehmann syndrome	XLR
PHF8	300560	Mental retardation syndrome, X-linked, Siderius type	XLR
PHGDH	606879	Phosphoglycerate dehydrogenase deficiency;Neu-Laxova syndrome 1	AR
PHIP	612870	Chung-Jansen syndrome	AD
PHKA1	311870	Muscle glycogenosis	XLR
PHOX2B	603851	Central hypoventilation syndrome, congenital, with or without Hirschsprung disease;Neuroblastoma, susceptibility to, 2;Neuroblastoma with Hirschsprung disease	AD
PHYH	602026	Refsum disease	AR
PIEZO2	613629	Arthrogryposis, distal, type 3;?Marden-Walker syndrome;Arthrogryposis, distal, type 5;Arthrogryposis, distal, with impaired proprioception and touch	AD, AR
PIGA	311770	Paroxysmal nocturnal hemoglobinuria, somatic;Multiple congenital anomalies-hypotonia-seizures syndrome 2	XLR
PIGB	604122	Developmental and epileptic encephalopathy 80	AR
PIGC	601730	Glycosylphosphatidylinositol biosynthesis defect 16	AR
PIGG	616918	Mental retardation, autosomal recessive 53	AR
PIGH	600154	Glycosylphosphatidylinositol biosynthesis defect 17	AR
PIGL	605947	CHIME syndrome	AR
PIGN	606097	Multiple congenital anomalies-hypotonia-seizures syndrome 1	AR
PIGO	614730	Hyperphosphatasia with mental retardation syndrome 2	AR
PIGP	605938	Developmental and epileptic encephalopathy 55	AR
PIGQ	605754	Developmental and epileptic encephalopathy 77	AR
PIGS	610271	Glycosylphosphatidylinositol biosynthesis defect 18	AR
PIGT	610272	Multiple congenital anomalies-hypotonia-seizures syndrome 3;?Paroxysmal nocturnal hemoglobinuria 2	AR, AD, SM
PIGU	608528	Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis	AR
PIGV	610274	Hyperphosphatasia with mental retardation syndrome 1	AR
PIGW	610275	Glycosylphosphatidylinositol biosynthesis defect 11	AR
PIK3CA	171834	Keratosis, seborrheic, somatic;Ovarian cancer, somatic;CLAPO syndrome, somatic;Macrodactyly, somatic;CLOVE syndrome, somatic;Gastric cancer, somatic;Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic;Colorectal cancer, somatic;Nevus, epidermal, somatic;Breast cancer, somatic;Cowden syndrome 5;Hepatocellular carcinoma, somatic;Nonsmall cell lung cancer, somatic
PIK3R2	603157	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	AD
PIK3R5	611317	Ataxia-oculomotor apraxia 3	AR
PINK1	608309	Parkinson disease 6, early onset	AR
PIP5K1C	606102	Lethal congenital contractural syndrome 3	AR
PITX1	602149	Liebenberg syndrome;Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	AD
PITX2	601542	Anterior segment dysgenesis 4;Ring dermoid of cornea;Axenfeld-Rieger syndrome, type 1	AD
PKLR	609712	Adenosine triphosphate, elevated, of erythrocytes;Pyruvate kinase deficiency	AD, AR
PLA2G6	603604	Neurodegeneration with brain iron accumulation 2B;Parkinson disease 14, AR;Infantile neuroaxonal dystrophy 1	AR
PLAA	603873	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	AR
PLCB1	607120	Developmental and epileptic encephalopathy 12	AR
PLCG2	600220	Familial cold autoinflammatory syndrome 3;Autoinflammation, antibody deficiency, and immune dysregulation syndrome	AD
PLEC	601282	Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with muscular dystrophy;?Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Muscular dystrophy, limb-girdle, autosomal recessive 17	AD, AR
PLEKHG2	611893	Leukodystrophy and acquired microcephaly with or without dystonia	AR
PLEKHG5	611101	Charcot-Marie-Tooth disease, recessive intermediate C;Spinal muscular atrophy, distal, autosomal recessive, 4	AR
PLK1	602098
PLK4	605031	Microcephaly and chorioretinopathy, autosomal recessive, 2	AR
PLN	172405	Cardiomyopathy, dilated, 1P;Cardiomyopathy, hypertrophic, 18	AD
PLOD2	601865	Bruck syndrome 2	AR
PLP1	300401	Pelizaeus-Merzbacher disease;Spastic paraplegia 2, XL	XLR
PLPBP	604436	Epilepsy, early-onset, vitamin B6-dependent	AR
PLXNB3	300214
PMM2	601785	Congenital disorder of glycosylation, type Ia	AR
PMP22	601097	Neuropathy, recurrent, with pressure palsies;Dejerine-Sottas disease;Roussy-Levy syndrome;?Neuropathy, inflammatory demyelinating;Charcot-Marie-Tooth disease, type 1E;Charcot-Marie-Tooth disease, type 1A	AD, AD, AR, ?AD
PMPCA	613036	Spinocerebellar ataxia, autosomal recessive 2	AR
PMPCB	603131	Multiple MT dysfunctions syndrome 6	AR
PNKD	609023	Paroxysmal nonkinesigenic dyskinesia 1	AD
PNKP	605610	Ataxia-oculomotor apraxia 4;Microcephaly, seizures, and developmental delay;?Charcot-Marie-Tooth disease, type 2B2	AR
PNPLA2	609059	Neutral lipid storage disease with myopathy	AR
PNPLA6	603197	Spastic paraplegia 39, AR;Boucher-Neuhauser syndrome;Oliver-McFarlane syndrome;?Laurence-Moon syndrome	AR
PNPLA8	612123	?MT myopathy with lactic acidosis	AR
PNPO	603287	Pyridoxamine 5'-phosphate oxidase deficiency	AR
PNPT1	610316	Deafness, autosomal recessive 70;Combined oxidative phosphorylation deficiency 13	AR
POGLUT1	615618	Dowling-Degos disease 4;?Muscular dystrophy, limb-girdle, autosomal recessive 21	AD, AR
POGZ	614787	White-Sutton syndrome	AD
POLA1	312040	Van Esch-O'Driscoll syndrome;Pigmentary disorder, reticulate, with systemic manifestations, XL	XLR
POLG	174763	Progressive external ophthalmoplegia, autosomal recessive 1;Progressive external ophthalmoplegia, AD 1;MT recessive ataxia syndrome (includes SANDO and SCAE);MT DNA depletion syndrome 4B (MNGIE type);MT DNA depletion syndrome 4A (Alpers type)	AR, AD
POLG2	604983	MT DNA depletion syndrome 16 (hepatic type);?MT DNA depletion syndrome 16B (neuroophthalmic type);Progressive external ophthalmoplegia with MT DNA deletions, AD 4	AR, AD
POLR1C	610060	Leukodystrophy, hypomyelinating, 11;Treacher Collins syndrome 3	AR
POLR1D	613715	Treacher Collins syndrome 2	AD, AR
POLR3A	614258	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Wiedemann-Rautenstrauch syndrome	AR
POLR3B	614366	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism;Charcot-Marie-Tooth disease, demyelinating, type 1I	AR, AD
POMGNT1	606822	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3;Retinitis pigmentosa 76	AR
POMGNT2	614828	Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8	AR
POMK	615247	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12;?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12	AR
POMT1	607423	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1	AR
POMT2	607439	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	AR
PON1	168820	Microvascular complications of diabetes 5
POP1	602486	Anauxetic dysplasia 2	AR
PORCN	300651	Focal dermal hypoplasia	XLD
POT1	606478	Melanoma, cutaneous malignant, susceptibility to, 10;Glioma susceptibility 9	AD
POU1F1	173110	Pituitary hormone deficiency, combined, 1	AD, AR
PPM1D	605100	Jansen de Vries syndrome;Breast cancer, somatic	AD
PPOX	600923	Porphyria variegata	AD
PPP2CA	176915	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	AD
PPP2R1A	605983	Mental retardation, AD 36	AD
PPP2R5D	601646	Mental retardation, AD 35	AD
PPP3CA	114105	Epileptic encephalopathy, infantile or early childhood, 1;Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	AD
PPT1	600722	Ceroid lipofuscinosis, neuronal, 1	AR
PQBP1	300463	Renpenning syndrome	XLR
PREPL	609557	Myasthenic syndrome, congenital, 22	AR
PRF1	170280	Hemophagocytic lymphohistiocytosis, familial, 2;Lymphoma, non-Hodgkin;Aplastic anemia	AR
PRICKLE1	608500	Epilepsy, progressive myoclonic 1B	AR
PRICKLE2	608501
PRKAG2	602743	Glycogen storage disease of heart, lethal congenital;Cardiomyopathy, hypertrophic 6;Wolff-Parkinson-White syndrome	AD
PRKCA	176960
PRKCG	176980	Spinocerebellar ataxia 14	AD
PRKN	602544	Parkinson disease, juvenile, type 2;Ovarian cancer, somatic;Adenocarcinoma of lung, somatic	AR
PRKRA	603424	Dystonia 16	AR
PRMT7	610087	Short stature, brachydactyly, intellectual developmental disability, and seizures	AR
PRNP	176640	Insomnia, fatal familial;Creutzfeldt-Jakob disease;Gerstmann-Straussler disease;Prion disease with protracted course;Kuru, susceptibility to;Cerebral amyloid angiopathy, PRNP-related;Huntington disease-like 1	AD
PRODH	606810	Schizophrenia, susceptibility to, 4;Hyperprolinemia, type I	AD, AR
PROP1	601538	Pituitary hormone deficiency, combined, 2	AR
PRPH	170710	Amyotrophic lateral sclerosis, susceptibility to	AD, AR
PRPS1	311850	Charcot-Marie-Tooth disease, XLR, 5;Deafness, X-linked 1;Phosphoribosylpyrophosphate synthetase superactivity;Arts syndrome;Gout, PRPS-related	XLR, XL
PRRT2	614386	Episodic kinesigenic dyskinesia 1;Convulsions, familial infantile, with paroxysmal choreoathetosis;Seizures, benign familial infantile, 2	AD
PRRX1	167420	Agnathia-otocephaly complex	AD, AR
PRSS12	606709	Mental retardation, autosomal recessive 1	AR
PRX	605725	Dejerine-Sottas disease;Charcot-Marie-Tooth disease, type 4F	AD, AR, AR
PSAP	176801	Combined SAP deficiency;Gaucher disease, atypical;Krabbe disease, atypical;Parkinson disease 24, AD, susceptibility to;Metachromatic leukodystrophy due to SAP-b deficiency	AR, AD
PSAT1	610936	Neu-Laxova syndrome 2;?Phosphoserine aminotransferase deficiency	AR
PSEN1	104311	Cardiomyopathy, dilated, 1U;Pick disease;Alzheimer disease, type 3;Alzheimer disease, type 3, with spastic paraparesis and apraxia;?Acne inversa, familial, 3;Dementia, frontotemporal;Alzheimer disease, type 3, with spastic paraparesis and unusual plaques	AD
PSEN2	600759	Alzheimer disease-4;Cardiomyopathy, dilated, 1V	AD
PSMD12	604450	Stankiewicz-Isidor syndrome	AD
PSPH	172480	Phosphoserine phosphatase deficiency	AR
PTCH1	601309	Basal cell carcinoma, somatic;Holoprosencephaly 7;Basal cell nevus syndrome	AD
PTCHD1	300828	Autism, susceptibility to, X-linked 4	XLR
PTEN	601728	Cowden syndrome 1;Lhermitte-Duclos syndrome;Macrocephaly/autism syndrome;Glioma susceptibility 2;Meningioma;Prostate cancer, somatic	AD
PTF1A	607194	Pancreatic and cerebellar agenesis;Pancreatic agenesis 2	AR
PTPN11	176876	Leukemia, juvenile myelomonocytic, somatic;LEOPARD syndrome 1;Metachondromatosis;Noonan syndrome 1	AD
PTPN23	606584	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity	AR
PTPRC	151460	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive;Hepatitis C virus, susceptibility to	AR
PTRH2	608625	Infantile-onset multisystem neurologic, endocrine, and pancreatic disease	AR
PTS	612719	Hyperphenylalaninemia, BH4-deficient, A	AR
PUM1	607204	Spinocerebellar ataxia 47	AD
PURA	600473	Mental retardation, AD 31	AD
PUS1	608109	Myopathy, lactic acidosis, and sideroblastic anemia 1	AR
PUS3	616283	Neurodevelopmental disorder with microcephaly and gray sclerae	AR
PXDN	605158	Anterior segment dysgenesis 7, with sclerocornea	AR
PYCR1	179035	Cutis laxa, autosomal recessive, type IIB;Cutis laxa, autosomal recessive, type IIIB	AR
PYCR2	616406	Leukodystrophy, hypomyelinating, 10	AR
PYGM	608455	McArdle disease	AR
PYROXD1	617220	Myopathy, myofibrillar, 8	AR
QARS1	603727	Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy	AR
QDPR	612676	Hyperphenylalaninemia, BH4-deficient, C	AR
QRICH1	617387	Ververi-Brady syndrome	AD
RAB11A	605570
RAB11B	604198	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	AD
RAB18	602207	Warburg micro syndrome 3	AR
RAB27A	603868	Griscelli syndrome, type 2	AR
RAB39B	300774	Mental retardation, X-linked 72;Waisman syndrome	XLR
RAB3GAP1	602536	Martsolf syndrome 2;Warburg micro syndrome 1	AR
RAB3GAP2	609275	Warburg micro syndrome 2;Martsolf syndrome	AR
RAB7A	602298	Charcot-Marie-Tooth disease, type 2B	AD
RAC1	602048	Mental retardation, AD 48	AD
RAD21	606462	Cornelia de Lange syndrome 4;?Mungan syndrome	AD, AR
RAD50	604040	Nijmegen breakage syndrome-like disorder	AR
RAF1	164760	Noonan syndrome 5;LEOPARD syndrome 2;Cardiomyopathy, dilated, 1NN	AD
RAI1	607642	Smith-Magenis syndrome	AD, IC
RALA	179550	Hiatt-Neu-Cooper neurodevelopmental syndrome	AD
RALGAPA1	608884	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	AR
RAP1GDS1	179502
RAPSN	601592	Fetal akinesia deformation sequence 2;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	AR
RARS1	107820	Leukodystrophy, hypomyelinating, 9	AR
RARS2	611524	Pontocerebellar hypoplasia, type 6	AR
RBBP8	604124	Seckel syndrome 2;Jawad syndrome	AR
RBCK1	610924	Polyglucosan body myopathy 1 with or without immunodeficiency	AR
RBFOX1	605104
RBM10	300080	TARP syndrome	XLR
RBM8A	605313	Thrombocytopenia-absent radius syndrome	AR
RDH11	607849	?Retinal dystrophy, juvenile cataracts, and short stature syndrome	AR
REEP1	609139	Spastic paraplegia 31, AD;?Neuronopathy, distal hereditary motor, type VB	AD
REEP2	609347	?Spastic paraplegia 72, AR;?Spastic paraplegia 72, AD	AD, AR
RELN	600514	Lissencephaly 2 (Norman-Roberts type);Epilepsy, familial temporal lobe, 7	AR, AD
RERE	605226	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	AD
REST	600571	Wilms tumor 6, susceptibility to;Fibromatosis, gingival, 5;?Deafness, AD 27	AD
RET	164761	Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia IIA;Medullary thyroid carcinoma;Pheochromocytoma;Multiple endocrine neoplasia IIB;Hirschsprung disease, protection against;Central hypoventilation syndrome, congenital	AD
RETREG1	613114	Neuropathy, hereditary sensory and autonomic, type IIB	AR
RFT1	611908	Congenital disorder of glycosylation, type In	AR
RHOBTB2	607352	Developmental and epileptic encephalopathy 64	AD
RIMS1	606629	Cone-rod dystrophy 7	AD
RIN2	610222	Macrocephaly, alopecia, cutis laxa, and scoliosis	AR
RMND1	614917	Combined oxidative phosphorylation deficiency 11	AR
RNASEH1	604123	Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 2	AR
RNASEH2A	606034	Aicardi-Goutieres syndrome 4	AR
RNASEH2B	610326	Aicardi-Goutieres syndrome 2	AR
RNASEH2C	610330	Aicardi-Goutieres syndrome 3	AR
RNASET2	612944	Leukoencephalopathy, cystic, without megalencephaly	AR
RNF113A	300951	Trichothiodystrophy 5, nonphotosensitive	XL
RNF13	609247	Developmental and epileptic encephalopathy 73	AD
RNF135	611358
RNF168	612688	RIDDLE syndrome	AR
RNF170	614649	Ataxia, sensory, 1, AD;Spastic paraplegia 85, AR	AD, AR
RNF216	609948	Cerebellar ataxia and hypogonadotropic hypogonadism	AR
ROBO2	602431	Vesicoureteral reflux 2	AD
ROGDI	614574	Kohlschutter-Tonz syndrome	AR
ROR2	602337	Brachydactyly, type B1;Robinow syndrome, AR	AD, AR
RORA	600825	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	AD
RORB	601972	Epilepsy, idiopathic generalized, susceptibility to, 15	AD
RPGRIP1L	610937	Joubert syndrome 7;?COACH syndrome 3;Meckel syndrome 5	AR
RPIA	180430	Ribose 5-phosphate isomerase deficiency	AR
RPL10	312173	Autism, susceptibility to, X-linked 5;Mental retardation, X-linked, syndromic, 35	XLR
RPL35A	180468	Diamond-Blackfan anemia 5	AD
RPS14	130620	Macrocytic anemia, refractory, due to 5q deletion, somatic
RPS6KA3	300075	Coffin-Lowry syndrome;Mental retardation, X-linked 19	XLD
RRM2B	604712	MT DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy);Progressive external ophthalmoplegia with MT DNA deletions, AD 5;MT DNA depletion syndrome 8B (MNGIE type)	AR, AD
RTN2	603183	Spastic paraplegia 12, AD	AD
RTN4IP1	610502	Optic atrophy 10 with or without ataxia, mental retardation, and seizures	AR
RTTN	610436	Microcephaly, short stature, and polymicrogyria with seizures	AR
RUBCN	613516	Spinocerebellar ataxia, autosomal recessive 15	AR
RUSC2	611053	Mental retardation, autosomal recessive 61	AR
RXYLT1	605862	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10	AR
RYR1	180901	Malignant hyperthermia susceptibility 1;King-Denborough syndrome;Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Minicore myopathy with external ophthalmoplegia	AD, AD, AR, AR
SACS	604490	Spastic ataxia, Charlevoix-Saguenay type	AR
SALL1	602218	Townes-Brocks branchiootorenal-like syndrome;Townes-Brocks syndrome 1	AD
SAMD9L	611170	Ataxia-pancytopenia syndrome;Monosomy 7 myelodysplasia and leukemia syndrome 1	AD
SAMHD1	606754	?Chilblain lupus 2;Aicardi-Goutieres syndrome 5	AD, AR
SARS2	612804	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis	AR
SASH1	607955	Dyschromatosis universalis hereditaria 1;?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma	AD, AR
SASS6	609321	?Microcephaly 14, primary, AR	AR
SATB2	608148	Glass syndrome	AD
SBDS	607444	Aplastic anemia, susceptibility to;Shwachman-Diamond syndrome	AR
SBF1	603560	Charcot-Marie-Tooth disease, type 4B3	AR
SBF2	607697	Charcot-Marie-Tooth disease, type 4B2	AR
SC5D	602286	Lathosterolosis	AR
SCARB2	602257	Epilepsy, progressive myoclonic 4, with or without renal failure	AR
SCN10A	604427	Episodic pain syndrome, familial, 2	AD
SCN1A	182389	Epilepsy, generalized, with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3;Developmental and epileptic encephalopathy 6B, non-Dravet;Febrile seizures, familial, 3A;Dravet syndrome	AD
SCN1B	600235	Atrial fibrillation, familial, 13;Epilepsy, generalized, with febrile seizures plus, type 1;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Developmental and epileptic encephalopathy 52	AD, AR
SCN2A	182390	Developmental and epileptic encephalopathy 11;Seizures, benign familial infantile, 3;Episodic ataxia, type 9	AD
SCN3A	182391	Epilepsy, familial focal, with variable foci 4;Developmental and epileptic encephalopathy 62	AD
SCN4A	603967	Paramyotonia congenita;Myotonia congenita, atypical, acetazolamide-responsive;Myasthenic syndrome, congenital, 16;Hyperkalemic periodic paralysis, type 2;Hypokalemic periodic paralysis, type 2	AD, AR
SCN8A	600702	?Myoclonus, familial, 2;Cognitive impairment with or without cerebellar ataxia;Developmental and epileptic encephalopathy 13;Seizures, benign familial infantile, 5	AD
SCN9A	603415	Erythermalgia, primary;Generalized epilepsy with febrile seizures plus, type 7;Febrile seizures, familial, 3B;Neuropathy, hereditary sensory and autonomic, type IID;Insensitivity to pain, congenital;Paroxysmal extreme pain disorder;Small fiber neuropathy	AD, AR
SCO1	603644	MT complex IV deficiency, nuclear type 4	AR
SCO2	604272	Myopia 6;MT complex IV deficiency, nuclear type 2	AD, AR
SCYL1	607982	Spinocerebellar ataxia, autosomal recessive 21	AR
SDCCAG8	613524	Bardet-Biedl syndrome 16;Senior-Loken syndrome 7	AR
SDHA	600857	Neurodegeneration with ataxia and late-onset optic atrophy;Cardiomyopathy, dilated, 1GG;Leigh syndrome;MT respiratory chain complex II deficiency;Paragangliomas 5	AD, AR, AR, MT
SDHAF1	612848	MT complex II deficiency, nuclear type 2;MT complex II deficiency	AR
SDHAF2	613019	Paragangliomas 2	AD
SDHB	185470	Pheochromocytoma;MT complex II deficiency, nuclear type 4;Paragangliomas 4;Paraganglioma and gastric stromal sarcoma;Gastrointestinal stromal tumor	AD, AR, AD, IC
SDHD	602690	MT complex II deficiency;Paraganglioma and gastric stromal sarcoma;Paragangliomas 1, with or without deafness;MT complex II deficiency, nuclear type 3;Pheochromocytoma	AR, AD
SEC23B	610512	Dyserythropoietic anemia, congenital, type II;?Cowden syndrome 7	AR, AD
SECISBP2	607693	Thyroid hormone metabolism, abnormal	AR
SELENOI	607915	Spastic paraplegia 81, AR	AR
SELENON	606210	Muscular dystrophy, rigid spine, 1;Myopathy, congenital, with fiber-type disproportion	AR, AD, AR
SEMA5A	609297
SEMA6B	608873	Epilepsy, progressive myoclonic, 11	AD
SEPSECS	613009	Pontocerebellar hypoplasia type 2D	AR
SERAC1	614725	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	AR
SERPINI1	602445	Encephalopathy, familial, with neuroserpin inclusion bodies	AD
SET	600960	Mental retardation, AD 58	AD
SETBP1	611060	Schinzel-Giedion midface retraction syndrome;Mental retardation, AD 29	AD
SETD1A	611052	Neurodevelopmental disorder with speech impairment and dysmorphic facies;Epilepsy, early-onset, with or without developmental delay	AD
SETD2	612778	Luscan-Lumish syndrome	AD
SETD5	615743	Mental retardation, AD 23	AD
SETX	608465	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;Amyotrophic lateral sclerosis 4, juvenile	AR, AD
SF3B1	605590	Myelodysplastic syndrome, somatic
SFXN4	615564	Combined oxidative phosphorylation deficiency 18	AR
SGCA	600119	Muscular dystrophy, limb-girdle, autosomal recessive 3	AR
SGCB	600900	Muscular dystrophy, limb-girdle, autosomal recessive 4	AR
SGCD	601411	Muscular dystrophy, limb-girdle, autosomal recessive 6;Cardiomyopathy, dilated, 1L	AR
SGCE	604149	Dystonia-11, myoclonic	AD
SGCG	608896	Muscular dystrophy, limb-girdle, autosomal recessive 5	AR
SGSH	605270	Mucopolysaccharidosis type IIIA (Sanfilippo A)	AR
SH3TC2	608206	Mononeuropathy of the median nerve, mild;Charcot-Marie-Tooth disease, type 4C	AD, AR
SHANK2	603290	Autism susceptibility 17
SHH	600725	Schizencephaly;Microphthalmia with coloboma 5;Single median maxillary central incisor;Holoprosencephaly 3	AD
SHOC2	602775	Noonan syndrome-like with loose anagen hair 1	AD
SHROOM4	300579	Stocco dos Santos X-linked mental retardation syndrome	XL
SIGMAR1	601978	?Amyotrophic lateral sclerosis 16, juvenile;?Spinal muscular atrophy, distal, autosomal recessive, 2	AR
SIK1	605705	Developmental and epileptic encephalopathy 30	AD
SIL1	608005	Marinesco-Sjogren syndrome	AR
SIN3A	607776	Witteveen-Kolk syndrome	AD
SIX3	603714	Holoprosencephaly 2;Schizencephaly	AD
SKI	164780	Shprintzen-Goldberg syndrome	AD
SLC12A3	600968	Gitelman syndrome	AR
SLC12A5	606726	Epilepsy, idiopathic generalized, susceptibility to, 14;Developmental and epileptic encephalopathy 34	AD, AR
SLC12A6	604878	Agenesis of the corpus callosum with peripheral neuropathy	AR
SLC13A3	606411	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate	AR
SLC13A5	608305	Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta	AR
SLC16A1	600682	Hyperinsulinemic hypoglycemia, familial, 7;Erythrocyte lactate transporter defect;Monocarboxylate transporter 1 deficiency	AD, AD, AR
SLC16A2	300095	Allan-Herndon-Dudley syndrome	XL
SLC17A5	604322	Sialic acid storage disorder, infantile;Salla disease	AR
SLC18A3	600336	Myasthenic syndrome, congenital, 21, presynaptic	AR
SLC19A2	603941	Thiamine-responsive megaloblastic anemia syndrome	AR
SLC19A3	606152	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)	AR
SLC1A1	133550	?Schizophrenia susceptibility 18;Dicarboxylic aminoaciduria	AR
SLC1A2	600300	Developmental and epileptic encephalopathy 41	AD
SLC1A3	600111	Episodic ataxia, type 6	AD
SLC1A4	600229	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	AR
SLC20A2	158378	Basal ganglia calcification, idiopathic, 1	AD
SLC22A5	603377	Carnitine deficiency, systemic primary	AR
SLC25A1	190315	Myasthenic syndrome, congenital, 23, presynaptic;Combined D-2- and L-2-hydroxyglutaric aciduria	AR
SLC25A12	603667	Developmental and epileptic encephalopathy 39	AR
SLC25A13	603859	Citrullinemia, type II, neonatal-onset;Citrullinemia, adult-onset type II	AR
SLC25A15	603861	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	AR
SLC25A19	606521	Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type);Microcephaly, Amish type	AR
SLC25A20	613698	Carnitine-acylcarnitine translocase deficiency	AR
SLC25A22	609302	Developmental and epileptic encephalopathy 3	AR
SLC25A26	611037	Combined oxidative phosphorylation deficiency 28	AR
SLC25A3	600370	MT phosphate carrier deficiency	AR
SLC25A38	610819	Anemia, sideroblastic, 2, pyridoxine-refractory	AR
SLC25A4	103220	MT DNA depletion syndrome 12B (cardiomyopathic type) AR;MT DNA depletion syndrome 12A (cardiomyopathic type) AD;Progressive external ophthalmoplegia with MT DNA deletions, AD 2	AR, AD
SLC25A42	610823	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	AR
SLC25A46	610826	Neuropathy, hereditary motor and sensory, type VIB;Pontocerebellar hypoplasia, type 1E	AR
SLC27A4	604194	Ichthyosis prematurity syndrome	AR
SLC2A1	138140	GLUT1 deficiency syndrome 2, childhood onset;GLUT1 deficiency syndrome 1, infantile onset, severe;Epilepsy, idiopathic generalized, susceptibility to, 12;Stomatin-deficient cryohydrocytosis with neurologic defects;Dystonia 9	AD, AD, AR
SLC2A10	606145	Arterial tortuosity syndrome	AR
SLC30A10	611146	Hypermanganesemia with dystonia 1	AR
SLC33A1	603690	Congenital cataracts, hearing loss, and neurodegeneration;Spastic paraplegia 42, AD	AR, AD
SLC35A1	605634	Congenital disorder of glycosylation, type IIf	AR
SLC35A2	314375	Congenital disorder of glycosylation, type IIm	SM, XLD
SLC35A3	605632	?Arthrogryposis, mental retardation, and seizures	AR
SLC35C1	605881	Congenital disorder of glycosylation, type IIc	AR
SLC39A14	608736	?Hyperostosis cranalis interna;Hypermanganesemia with dystonia 2	AD, AR
SLC39A8	608732	Congenital disorder of glycosylation, type IIn	AR
SLC3A1	104614	Cystinuria	AD, AR
SLC4A10	605556
SLC4A4	603345	Renal tubular acidosis, proximal, with ocular abnormalities	AR
SLC52A2	607882	Brown-Vialetto-Van Laere syndrome 2	AR
SLC52A3	613350	?Fazio-Londe disease;Brown-Vialetto-Van Laere syndrome 1	AR
SLC5A7	608761	Neuronopathy, distal hereditary motor, type VIIA;Myasthenic syndrome, congenital, 20, presynaptic	AD, AR
SLC6A1	137165	Myoclonic-atonic epilepsy	AD
SLC6A17	610299	Mental retardation, autosomal recessive 48	AR
SLC6A19	608893	Iminoglycinuria, digenic;Hyperglycinuria;Hartnup disorder	AR, DR, AD, AR
SLC6A3	126455	Nicotine dependence, protection against;Parkinsonism-dystonia, infantile, 1	AR
SLC6A4	182138	Obsessive-compulsive disorder;Anxiety-related personality traits	AD
SLC6A5	604159	Hyperekplexia 3	AD, AR
SLC6A8	300036	Cerebral creatine deficiency syndrome 1	XLR
SLC6A9	601019	Glycine encephalopathy with normal serum glycine	AR
SLC7A7	603593	Lysinuric protein intolerance	AR
SLC9A6	300231	Mental retardation, X-linked syndromic, Christianson type	XL
SLC9A9	608396	?Autism susceptibility 16
SLCO1B3	605495	Hyperbilirubinemia, Rotor type, digenic	DR
SMAD4	600993	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Pancreatic cancer, somatic;Myhre syndrome;Polyposis, juvenile intestinal	AD
SMARCA2	600014	Blepharophimosis-impaired intellectual development syndrome;Nicolaides-Baraitser syndrome	AD
SMARCA4	603254	Coffin-Siris syndrome 4;Rhabdoid tumor predisposition syndrome 2	AD
SMARCB1	601607	Coffin-Siris syndrome 3;Rhabdoid tumor predisposition syndrome 1;Schwannomatosis-1, susceptibility to;Rhabdoid tumors, somatic	AD
SMARCC2	601734	Coffin-Siris syndrome 8	AD
SMARCE1	603111	Coffin-Siris syndrome 5;Meningioma, familial, susceptibility to	AD
SMC1A	300040	Developmental and epileptic encephalopathy 85, with or without midline brain defects;Cornelia de Lange syndrome 2	XLD
SMC3	606062	Cornelia de Lange syndrome 3	AD
SMCHD1	614982	Bosma arhinia microphthalmia syndrome;Fascioscapulohumeral muscular dystrophy 2, digenic	AD, Digenic dominant
SMPD1	607608	Niemann-Pick disease, type A;Niemann-Pick disease, type B	AR
SMPD4	610457	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	AR
SMS	300105	Mental retardation, X-linked, Snyder-Robinson type	XLR
SNAI2	602150	Waardenburg syndrome, type 2D;Piebaldism	AR, AD
SNAP25	600322	?Myasthenic syndrome, congenital, 18	AD
SNAP29	604202	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	AR
SNCA	163890	Parkinson disease 1;Dementia, Lewy body;Parkinson disease 4	AD
SNCB	602569	Dementia, Lewy body	AD
SNIP1	608241	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	AR
SNTA1	601017	Long QT syndrome 12	AD
SNX14	616105	Spinocerebellar ataxia, autosomal recessive 20	AR
SNX27	611541
SOBP	613667	Mental retardation, anterior maxillary protrusion, and strabismus	AR
SOD1	147450	Spastic tetraplegia and axial hypotonia, progressive;Amyotrophic lateral sclerosis 1	AR, AD, AR
SOD2	147460	Microvascular complications of diabetes 6
SON	182465	ZTTK syndrome	AD
SORL1	602005
SOS1	182530	Noonan syndrome 4;?Fibromatosis, gingival, 1	AD
SOX10	602229	Waardenburg syndrome, type 4C;PCWH syndrome;Waardenburg syndrome, type 2E, with or without neurologic involvement	AD
SOX11	600898	Coffin-Siris syndrome 9	AD
SOX2	184429	Microphthalmia, syndromic 3;Optic nerve hypoplasia and abnormalities of the central nervous system	AD
SOX3	313430	Panhypopituitarism, X-linked;Mental retardation, X-linked, with isolated growth hormone deficiency	XL
SOX5	604975	Lamb-Shaffer syndrome	AD
SPART	607111	Troyer syndrome	AR
SPAST	604277	Spastic paraplegia 4, AD	AD
SPATA5	613940	Epilepsy, hearing loss, and mental retardation syndrome	AR
SPEG	615950	Centronuclear myopathy 5	AR
SPG11	610844	Spastic paraplegia 11, AR;Amyotrophic lateral sclerosis 5, juvenile;Charcot-Marie-Tooth disease, axonal, type 2X	AR
SPG21	608181	Mast syndrome	AR
SPG7	602783	Spastic paraplegia 7, AR	AD, AR
SPR	182125	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	?AD, AR
SPTAN1	182810	Developmental and epileptic encephalopathy 5	AD
SPTBN2	604985	Spinocerebellar ataxia, autosomal recessive 14;Spinocerebellar ataxia 5	AR, AD
SPTBN4	606214	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	AR
SPTLC1	605712	Neuropathy, hereditary sensory and autonomic, type IA	AD
SPTLC2	605713	Neuropathy, hereditary sensory and autonomic, type IC	AD
SQSTM1	601530	Paget disease of bone 3;Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset;Myopathy, distal, with rimmed vacuoles;Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	AD, AR
SRCAP	611421	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities;Floating-Harbor syndrome	AD
SRD5A3	611715	Congenital disorder of glycosylation, type Iq;Kahrizi syndrome	AR
SSR4	300090	Congenital disorder of glycosylation, type Iy	XLR
ST3GAL3	606494	?Developmental and epileptic encephalopathy 15;Mental retardation, autosomal recessive 12	AR
ST3GAL5	604402	Salt and pepper developmental regression syndrome	AR
STAC3	615521	Myopathy, congenital, Baily-Bloch	AR
STAG1	604358	Mental retardation, AD 47	AD
STAMBP	606247	Microcephaly-capillary malformation syndrome	AR
STAR	600617	Lipoid adrenal hyperplasia	AR
STAT1	600555	Immunodeficiency 31C, chronic mucocutaneous candidiasis, AD;Immunodeficiency 31B, mycobacterial and viral infections, AR;Immunodeficiency 31A, mycobacteriosis, AD	AD, AR
STAT2	600556	Pseudo-TORCH syndrome 3;Immunodeficiency 44	AR
STIL	181590	Microcephaly 7, primary, AR	AR
STIM1	605921	Myopathy, tubular aggregate, 1;Stormorken syndrome;Immunodeficiency 10	AD, AR
STRA6	610745	Microphthalmia, isolated, with coloboma 8;Microphthalmia, syndromic 9	AR
STRADA	608626	Polyhydramnios, megalencephaly, and symptomatic epilepsy	AR
STT3A	601134	Congenital disorder of glycosylation, type Iw, AD;Congenital disorder of glycosylation, type Iw	AD, AR
STUB1	607207	?Spinocerebellar ataxia 48;Spinocerebellar ataxia, autosomal recessive 16	AD, AR
STX1B	601485	Generalized epilepsy with febrile seizures plus, type 9	AD
STXBP1	602926	Developmental and epileptic encephalopathy 4	AD
SUCLA2	603921	MT DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	AR
SUCLG1	611224	MT DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)	AR
SUGCT	609187	Glutaric aciduria III	AR
SUMF1	607939	Multiple sulfatase deficiency	AR
SUN2	613569
SUOX	606887	Sulfite oxidase deficiency	AR
SURF1	185620	Charcot-Marie-Tooth disease, type 4K;MT complex IV deficiency, nuclear type 1	AR
SYN1	313440	?Intellectual developmental disorder, X-linked 50;Epilepsy, X-linked, with variable learning disabilities and behavior disorders	XL, XLD, XLR
SYN2	600755	Schizophrenia, susceptibility to	AD
SYNE1	608441	Arthrogryposis multiplex congenita 3, myogenic type;Emery-Dreifuss muscular dystrophy 4, AD;Spinocerebellar ataxia, autosomal recessive 8	AR, AD
SYNE2	608442	Emery-Dreifuss muscular dystrophy 5, AD	AD
SYNGAP1	603384	Mental retardation, AD 5	AD
SYNJ1	604297	Developmental and epileptic encephalopathy 53;Parkinson disease 20, early-onset	AR
SYP	313475	Mental retardation, X-linked 96	XLR
SYT2	600104	Myasthenic syndrome, congenital, 7B, presynaptic, AR;Myasthenic syndrome, congenital, 7, presynaptic	AR, AD
SZT2	615463	Developmental and epileptic encephalopathy 18	AR
TACO1	612958	MT complex IV deficiency, nuclear type 8	AR
TAF1	313650	Mental retardation, X-linked, syndromic 33;Dystonia-Parkinsonism, XL	XLR
TAF13	600774	Mental retardation, autosomal recessive 60	AR
TAF15	601574	Chondrosarcoma, extraskeletal myxoid
TAF2	604912	Mental retardation, autosomal recessive 40	AR
TAF6	602955	Alazami-Yuan syndrome	AR
TAFAZZIN	300394	Barth syndrome	XLR
TANGO2	616830	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	AR
TAOK1	610266	Developmental delay with or without intellectual impairment or behavioral abnormalities	AD
TARDBP	605078	Frontotemporal lobar degeneration, TARDBP-related;Amyotrophic lateral sclerosis 10, with or without FTD	AD
TARS2	612805	?Combined oxidative phosphorylation deficiency 21	AR
TBC1D20	611663	Warburg micro syndrome 4	AR
TBC1D23	617687	Pontocerebellar hypoplasia, type 11	AR
TBC1D24	613577	Deafness, AD 65;Deafness , autosomal recessive 86;Myoclonic epilepsy, infantile, familial;Developmental and epileptic encephalopathy 16;DOORS syndrome;Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp	AD, AR
TBCD	604649	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	AR
TBCE	604934	Hypoparathyroidism-retardation-dysmorphism syndrome;Encephalopathy, progressive, with amyotrophy and optic atrophy;Kenny-Caffey syndrome, type 1	AR
TBCK	616899	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	AR
TBK1	604834	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	AD
TBL1XR1	608628	Pierpont syndrome;Mental retardation, AD 41	AD
TBR1	604616	Intellectual developmental disorder with autism and speech delay	AD
TBX1	602054	Velocardiofacial syndrome;Tetralogy of Fallot;DiGeorge syndrome;Conotruncal anomaly face syndrome	AD
TBX3	601621	Ulnar-mammary syndrome	AD
TCAP	604488	Muscular dystrophy, limb-girdle, autosomal recessive 7;Cardiomyopathy, hypertrophic, 25	AR, AD
TCF20	603107	Developmental delay with variable intellectual impairment and behavioral abnormalities	AD
TCF4	602272	Pitt-Hopkins syndrome;Corneal dystrophy, Fuchs endothelial, 3	AD
TCIRG1	604592	Osteopetrosis, autosomal recessive 1	AR
TCOF1	606847	Treacher Collins syndrome 1	AD
TCTN1	609863	Joubert syndrome 13	AR
TCTN2	613846	?Meckel syndrome 8;Joubert syndrome 24	AR
TCTN3	613847	Joubert syndrome 18;Orofaciodigital syndrome IV	AR
TDP1	607198	?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	AR
TDP2	605764	Spinocerebellar ataxia, autosomal recessive 23	AR
TECPR2	615000	Spastic paraplegia 49, AR	AR
TECR	610057	Mental retardation, autosomal recessive 14	AR
TECTA	602574	Deafness, AD 8/12;Deafness, autosomal recessive 21	AD, AR
TENM4	610084	Essential tremor, hereditary, 5	AD
TET2	612839	Myelodysplastic syndrome, somatic;Immunodeficiency 75	AR
TFAP2A	107580	Branchiooculofacial syndrome	AD
TFAP2B	601601	Patent ductus arteriosus 2;Char syndrome	AD
TFG	602498	Hereditary motor and sensory neuropathy, Okinawa type;?Spastic paraplegia 57, AR	AD, AR
TFR2	604720	Hemochromatosis, type 3	AR
TG	188450	Thyroid dyshormonogenesis 3;Autoimmune thyroid disease, susceptibility to, 3	AR
TGFB1	190180	Camurati-Engelmann disease;Cystic fibrosis lung disease, modifier of;Inflammatory bowel disease, immunodeficiency, and encephalopathy	AD, AR
TGFB3	190230	Loeys-Dietz syndrome 5;Arrhythmogenic right ventricular dysplasia 1	AD
TGIF1	602630	Holoprosencephaly 4	AD
TGM6	613900	Spinocerebellar ataxia 35	AD
TH	191290	Segawa syndrome, recessive	AR
THAP1	609520	Dystonia 6, torsion	AD
THRA	190120	Hypothyroidism, congenital, nongoitrous, 6	AD
THRB	190160	Thyroid hormone resistance, AR;Thyroid hormone resistance;Thyroid hormone resistance, selective pituitary	AR, AD
TIA1	603518	Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia;Welander distal myopathy	AD, AD, AR
TIMM50	607381	3-methylglutaconic aciduria, type IX	AR
TIMM8A	300356	Mohr-Tranebjaerg syndrome	XLR
TIMMDC1	615534	MT complex I deficiency, nuclear type 31	AR
TINF2	604319	Revesz syndrome;Dyskeratosis congenita, AD 3	AD
TK2	188250	MT DNA depletion syndrome 2 (myopathic type);?Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 3	AR
TLK2	608439	Mental retardation, AD 57	AD
TMCO1	614123	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	AR
TMEM106B	613413	Leukodystrophy, hypomyelinating, 16	AD
TMEM126A	612988	Optic atrophy 7	AR
TMEM126B	615533	MT complex I deficiency, nuclear type 29	AR
TMEM138	614459	Joubert syndrome 16	AR
TMEM165	614726	Congenital disorder of glycosylation, type IIk	AR
TMEM199	616815	Congenital disorder of glycosylation, type IIp	AR
TMEM216	613277	Meckel syndrome 2;Joubert syndrome 2	AR
TMEM230	617019
TMEM231	614949	Joubert syndrome 20;Meckel syndrome 11	AR
TMEM237	614423	Joubert syndrome 14	AR
TMEM240	616101	Spinocerebellar ataxia 21	AD
TMEM43	612048	Arrhythmogenic right ventricular dysplasia 5;Emery-Dreifuss muscular dystrophy 7, AD	AD
TMEM67	609884	COACH syndrome 1;?RHYNS syndrome;Meckel syndrome 3;Joubert syndrome 6;Bardet-Biedl syndrome 14, modifier of;Nephronophthisis 11	AR
TMEM70	612418	MT complex V (ATP synthase) deficiency, nuclear type 2	AR
TMLHE	300777	Autism, susceptibility to, X-linked 6	XLR
TMTC3	617218	Lissencephaly 8	AR
TMX2	616715	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	AR
TNIK	610005	Mental retardation, autosomal recessive 54	AR
TNK2	606994
TNNI2	191043	Arthrogryposis, distal, type 2B1	AD
TNNT1	191041	Nemaline myopathy 5, Amish type	AR
TNNT3	600692	Arthrogryposis, distal, type 2B2	AD
TNPO3	610032	Muscular dystrophy, limb-girdle, AD 2	AD
TOE1	613931	Pontocerebellar hypoplasia, type 7	AR
TOP3A	601243	Microcephaly, growth restriction, and increased sister chromatid exchange 2;?Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 5	AR
TOR1A	605204	Dystonia-1, torsion;Arthrogryposis multiplex congenita 5	AD, AR
TOR1AIP1	614512	?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures	AR
TPI1	190450	Hemolytic anemia due to triosephosphate isomerase deficiency	AR
TPK1	606370	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	AR
TPM2	190990	Arthrogryposis, distal, type 2B4;Arthrogryposis, distal, type 1A;CAP myopathy 2;Nemaline myopathy 4, AD	AD
TPM3	191030	Myopathy, congenital, with fiber-type disproportion;Nemaline myopathy 1, AD or recessive;CAP myopathy 1	AD, AR
TPO	606765	Thyroid dyshormonogenesis 2A	AR
TPP1	607998	Ceroid lipofuscinosis, neuronal, 2;Spinocerebellar ataxia, autosomal recessive 7	AR
TRAF3IP1	607380	Senior-Loken syndrome 9	AR
TRAF7	606692	Cardiac, facial, and digital anomalies with developmental delay	AD
TRAK1	608112	Developmental and epileptic encephalopathy 68	AR
TRAPPC11	614138	Muscular dystrophy, limb-girdle, autosomal recessive 18	AR
TRAPPC4	610971	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	AR
TRAPPC9	611966	Mental retardation, autosomal recessive 13	AR
TREM2	605086	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2	AR
TREX1	606609	Aicardi-Goutieres syndrome 1, dominant and recessive;Chilblain lupus;Vasculopathy, retinal, with cerebral leukodystrophy;Systemic lupus erythematosus, susceptibility to	AD, AR, AD
TRIM2	614141	Charcot-Marie-Tooth disease, type 2R	AR
TRIM32	602290	Muscular dystrophy, limb-girdle, autosomal recessive 8;?Bardet-Biedl syndrome 11	AR
TRIM8	606125	Focal segmental glomerulosclerosis and neurodevelopmental syndrome	AD
TRIO	601893	Intellectual developmental disorder, AD 44, with microcephaly;Intellectual developmental disorder, AD 63, with macrocephaly	AD
TRIP12	604506	Mental retardation, AD 49	AD
TRIP4	604501	Spinal muscular atrophy with congenital bone fractures 1;?Muscular dystrophy, congenital, Davignon-Chauveau type	AR
TRIT1	617840	Combined oxidative phosphorylation deficiency 35	AR
TRMT10A	616013	Microcephaly, short stature, and impaired glucose metabolism 1	AR
TRMT10C	615423	Combined oxidative phosphorylation deficiency 30	AR
TRMT5	611023	Combined oxidative phosphorylation deficiency 26	AR
TRMU	610230	Liver failure, transient infantile;Deafness, MT, modifier of	AR, MT
TRNT1	612907	Retinitis pigmentosa and erythrocytic microcytosis;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	AR
TRPC6	603652	Glomerulosclerosis, focal segmental, 2	AD
TRPM1	603576	Night blindness, congenital stationary (complete), 1C, AR
TRPM6	607009	Hypomagnesemia 1, intestinal	AR
TRPS1	604386	Trichorhinophalangeal syndrome, type I;Trichorhinophalangeal syndrome, type III	AD
TRPV4	605427	SED, Maroteaux type;Spondylometaphyseal dysplasia, Kozlowski type;Metatropic dysplasia;Brachyolmia type 3;Neuronopathy, distal hereditary motor, type VIII;[Sodium serum level QTL 1];?Avascular necrosis of femoral head, primary, 2;Scapuloperoneal spinal muscular atrophy;Parastremmatic dwarfism;Hereditary motor and sensory neuropathy, type IIc;Digital arthropathy-brachydactyly, familial	AD
TRRAP	603015	Developmental delay with or without dysmorphic facies and autism;?Deafness, AD 75	AD
TSC1	605284	Lymphangioleiomyomatosis;Focal cortical dysplasia, type II, somatic;Tuberous sclerosis-1	AD
TSC2	191092	?Focal cortical dysplasia, type II, somatic;Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2	AD
TSEN15	608756	Pontocerebellar hypoplasia, type 2F	AR
TSEN2	608753	Pontocerebellar hypoplasia type 2B	AR
TSEN34	608754	?Pontocerebellar hypoplasia type 2C	AR
TSEN54	608755	Pontocerebellar hypoplasia type 2A;?Pontocerebellar hypoplasia type 5;Pontocerebellar hypoplasia type 4	AR
TSFM	604723	Combined oxidative phosphorylation deficiency 3	AR
TSHB	188540	Hypothyroidism, congenital, nongoitrous 4	AR
TSHR	603372	Hyperthyroidism, nonautoimmune;Hypothyroidism, congenital, nongoitrous, 1;Hyperthyroidism, familial gestational	AD, AR
TSPAN7	300096	Mental retardation, X-linked 58	XLR
TTBK2	611695	Spinocerebellar ataxia 11	AD
TTC19	613814	MT complex III deficiency, nuclear type 2	AR
TTC21B	612014	Short-rib thoracic dysplasia 4 with or without polydactyly;Nephronophthisis 12	AR, AD, AR
TTC8	608132	Bardet-Biedl syndrome 8;?Retinitis pigmentosa 51	AR
TTI2	614426	Mental retardation, autosomal recessive 39	AR
TTN	188840	Cardiomyopathy, dilated, 1G;Muscular dystrophy, limb-girdle, autosomal recessive 10;Tibial muscular dystrophy, tardive;Myopathy, myofibrillar, 9, with early respiratory failure;Salih myopathy;Cardiomyopathy, familial hypertrophic, 9	AR, AD
TTPA	600415	Ataxia with isolated vitamin E deficiency	AR
TTR	176300	[Dystransthyretinemic hyperthyroxinemia];Carpal tunnel syndrome, familial;Amyloidosis, hereditary, transthyretin-related	AD
TUBA1A	602529	Lissencephaly 3	AD
TUBA4A	191110	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia	AD
TUBA8	605742	Cortical dysplasia, complex, with other brain malformations 8	AR
TUBB2A	615101	Cortical dysplasia, complex, with other brain malformations 5	AD
TUBB2B	612850	Cortical dysplasia, complex, with other brain malformations 7	AD
TUBB3	602661	Cortical dysplasia, complex, with other brain malformations 1;Fibrosis of extraocular muscles, congenital, 3A	AD
TUBB4A	602662	Dystonia 4, torsion, AD;Leukodystrophy, hypomyelinating, 6	AD
TUBG1	191135	Cortical dysplasia, complex, with other brain malformations 4	AD
TUBGCP4	609610	Microcephaly and chorioretinopathy, autosomal recessive, 3	AR
TUBGCP6	610053	Microcephaly and chorioretinopathy, autosomal recessive, 1	AR
TUFM	602389	Combined oxidative phosphorylation deficiency 4	AR
TUSC3	601385	Mental retardation, autosomal recessive 7	AR
TWIST1	601622	Craniosynostosis 1;Robinow-Sorauf syndrome;Saethre-Chotzen syndrome with or without eyelid anomalies;Sweeney-Cox syndrome	AD
TWNK	606075	Progressive external ophthalmoplegia with MT DNA deletions, AD 3;Perrault syndrome 5;MT DNA depletion syndrome 7 (hepatocerebral type)	AD, AR
TYMP	131222	MT DNA depletion syndrome 1 (MNGIE type)	AR
TYR	606933	[Skin/hair/eye pigmentation 3, light/dark/freckling skin];Waardenburg syndrome/albinism, digenic;[Skin/hair/eye pigmentation 3, blue/green eyes];Melanoma, cutaneous malignant, susceptibility to, 8;Albinism, oculocutaneous, type IA;Albinism, oculocutaneous, type IB	AD, AR
TYROBP	604142	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	AR
UBA1	314370	VEXAS syndrome, somatic;Spinal muscular atrophy, X-linked 2, infantile	XLR
UBA5	610552	Developmental and epileptic encephalopathy 44;?Spinocerebellar ataxia, autosomal recessive 24	AR
UBAP1	609787	Spastic paraplegia 80, AD	AD
UBE2A	312180	Mental retardation, X-linked syndromic, Nascimento-type	XLR
UBE3A	601623	Angelman syndrome	AD
UBE3B	608047	Kaufman oculocerebrofacial syndrome	AR
UBQLN2	300264	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	XLD
UBR1	605981	Johanson-Blizzard syndrome	AR
UBTF	600673	Neurodegeneration, childhood-onset, with brain atrophy	AD
UCHL1	191342	?Parkinson disease 5, susceptibility to;Spastic paraplegia 79, AR	AD, AR
UFM1	610553	Leukodystrophy, hypomyelinating, 14	AR
UGP2	191760	Developmental and epileptic encephalopathy 83	AR
UMPS	613891	Orotic aciduria	AR
UNC80	612636	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	AR
UNG	191525	Immunodeficiency with hyper IgM, type 5	AR
UPB1	606673	Beta-ureidopropionase deficiency	AR
UPF3B	300298	Mental retardation, X-linked, syndromic 14	XLR
UQCC2	614461	MT complex III deficiency, nuclear type 7	AR
UQCRB	191330	MT complex III deficiency, nuclear type 3	AR
UQCRC2	191329	MT complex III deficiency, nuclear type 5	AR
UQCRQ	612080	MT complex III deficiency, nuclear type 4	AR
UROC1	613012	?Urocanase deficiency	AR
USH2A	608400	Usher syndrome, type 2A;Retinitis pigmentosa 39	AR
USP8	603158	Pituitary adenoma 4, ACTH-secreting, somatic
USP9X	300072	Mental retardation, X-linked 99;Mental retardation, X-linked 99, syndromic, female-restricted	XLR, XLD
USP9Y	400005	Spermatogenic failure, Y-linked, 2	Y-linked
VAMP1	185880	Myasthenic syndrome, congenital, 25;Spastic ataxia 1, AD	AR, AD
VAMP2	185881	Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements	AD
VANGL1	610132	Caudal regression syndrome;Neural tube defects, susceptibility to	AD
VAPB	605704	Spinal muscular atrophy, late-onset, Finkel type;Amyotrophic lateral sclerosis 8	AD
VARS1	192150	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	AR
VARS2	612802	Combined oxidative phosphorylation deficiency 20	AR
VCP	601023	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1;Charcot-Marie-Tooth disease, type 2Y;Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	AD
VDR	601769	Rickets, vitamin D-resistant, type IIA	AR
VHL	608537	Pheochromocytoma;von Hippel-Lindau syndrome;Renal cell carcinoma, somatic;Erythrocytosis, familial, 2	AD, AR
VIPAS39	613401	Arthrogryposis, renal dysfunction, and cholestasis 2	AR
VLDLR	192977	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1	AR
VMA21	300913	Myopathy, X-linked, with excessive autophagy	XLR
VPS11	608549	Leukodystrophy, hypomyelinating, 12;?Dystonia 32	AR
VPS13A	605978	Choreoacanthocytosis	AR
VPS13B	607817	Cohen syndrome	AR
VPS13C	608879	Parkinson disease 23, autosomal recessive, early onset	AR
VPS13D	608877	Spinocerebellar ataxia, autosomal recessive 4	AR
VPS33B	608552	Arthrogryposis, renal dysfunction, and cholestasis 1	AR
VPS35	601501	Parkinson disease 17	AD
VPS37A	609927	Spastic paraplegia 53, AR	AR
VPS53	615850	Pontocerebellar hypoplasia, type 2E	AR
VRK1	602168	Pontocerebellar hypoplasia type 1A	AR
WAC	615049	Desanto-Shinawi syndrome	AD
WARS2	604733	Neurodevelopmental disorder, MT, with abnormal movements and lactic acidosis, with or without seizures;Parkinsonism-dystonia 3, childhood-onset	AR
WASF1	605035	Neurodevelopmental disorder with absent language and variable seizures	AD
WASHC4	615748	?Mental retardation, autosomal recessive 43	AR
WASHC5	610657	Spastic paraplegia 8, AD;Ritscher-Schinzel syndrome 1	AD, AR
WDFY3	617485	?Microcephaly 18, primary, AD	AD
WDR26	617424	Skraban-Deardorff syndrome	AD
WDR37	618586	Neurooculocardiogenitourinary syndrome	AD
WDR45	300526	Neurodegeneration with brain iron accumulation 5	XLD
WDR45B	609226	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	AR
WDR62	613583	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	AR
WDR73	616144	Galloway-Mowat syndrome 1	AR
WDR81	614218	Hydrocephalus, congenital, 3, with brain anomalies;Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	AR
WFS1	606201	?Cataract 41;Wolfram-like syndrome, AD;Wolfram syndrome 1;Diabetes mellitus, noninsulin-dependent, association with;Deafness, AD 6/14/38	AD, AR
WNK1	605232	Neuropathy, hereditary sensory and autonomic, type II;Pseudohypoaldosteronism, type IIC	AR, AD
WNT1	164820	Osteogenesis imperfecta, type XV;Osteoporosis, early-onset, susceptibility to, AD	AR
WNT5A	164975	Robinow syndrome, AD 1	AD
WNT7A	601570	Fuhrmann syndrome;Ulna and fibula, absence of, with severe limb deficiency	AR
WWOX	605131	Esophageal squamous cell carcinoma, somatic;Developmental and epileptic encephalopathy 28;Spinocerebellar ataxia, autosomal recessive 12	AR
XK	314850	McLeod syndrome with or without chronic granulomatous disease	XL
XPNPEP3	613553	Nephronophthisis-like nephropathy 1	AR
XPR1	605237	Basal ganglia calcification, idiopathic, 6	AD
YAP1	606608	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation	AD
YARS1	603623	Charcot-Marie-Tooth disease, dominant intermediate C;Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2	AD, AR
YARS2	610957	Myopathy, lactic acidosis, and sideroblastic anemia 2	AR
YWHAE	605066
YWHAG	605356	Developmental and epileptic encephalopathy 56	AD
YY1	600013	Gabriele-de Vries syndrome	AD
ZBTB16	176797	Skeletal defects, genital hypoplasia, and mental retardation	AR
ZBTB18	608433	Mental retardation, AD 22	AD
ZBTB20	606025	Primrose syndrome	AD
ZBTB24	614064	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	AR
ZC3H14	613279	Mental retardation, autosomal recessive 56	AR
ZC4H2	300897	Wieacker-Wolff syndrome;Wieacker-Wolff syndrome, female-restricted	XLR, XLD
ZDHHC9	300646	Mental retardation, X-linked syndromic, Raymond type	XL
ZEB2	605802	Mowat-Wilson syndrome	AD
ZFYVE26	612012	Spastic paraplegia 15, AR	AR
ZFYVE27	610243	Spastic paraplegia 33, AD	AD
ZIC1	600470	Structural brain anomalies with impaired intellectual development and craniosynostosis;?Craniosynostosis 6	AD
ZIC2	603073	Holoprosencephaly 5	AD
ZIC3	300265	VACTERL association, X-linked;Congenital heart defects, nonsyndromic, 1, X-linked;Heterotaxy, visceral, 1, XL	XLR
ZMYND11	608668	Mental retardation, AD 30	AD
ZNF142	604083	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	AR
ZNF292	616213	Intellectual developmental disorder, AD 64	AD
ZNF335	610827	Microcephaly 10, primary, AR	AR
ZNF41	314995
ZNF423	604557	Joubert syndrome 19;Nephronophthisis 14	AD, AR
ZNF699	609571	DEGCAGS syndrome	AR
ZNF711	314990	Mental retardation, X-linked 97	XL
ZNF81	314998

COMMON SYNDROMES AND DISORDERS COVERED

Amyotrophic lateral sclerosis
Arthrogryposis multiplex congenita
Ataxia
Dementia
Dolichoectasia
Dystonia
Epilepsy
Familial hemiplegic migraine
Frontotemporal dementia
Hypogonadotropic hypogonadism
Intellectual disability
Joubert syndrome
Kallman syndrome
Leigh syndrome
Leukodystrophy and peroxisome biogenesis disorders
Meckel syndrome
Mitochondrial encephalomyopathy
Neonatal mitochondrial hepatopathies
Neuromuscular disorders
Parkinson´s disease
Refsum disease
Spastic paraplegia
Tuberous sclerosis
Zellweger syndrome

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Pediatric Neurology Panels – Product Sheet

A targeted approach for testing neurological disorders

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Amyotrohpic lateral sclerosis (ALS)/Dementia panel

Our Amyotrohpic lateral sclerosis (ALS)/Dementia panel includes genes causing Alzheimer‘s, dementia, and frontotemporal dementia, as well as genes used for differential diagnosis with overlap at any point of the natural history of the disease. Genes inside this panel have been carefully selected to increase the diagnostic yield. Actionable diseases overlapping with the phenotype are included (such as Wilson´s disease, Niemann-Pick disease, and hexosaminidase A deficiency). This panel does not detect Huntington disease.

No. of genes:	105
TAT:	25 days
Coverage:	≥99.0% ≥20x
Details:	CNV analysis included Includes repeat expansion analysis for ATXN2, C9ORF72,* PRNP* mtDNA analysis included

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
ABCA7	605414	Alzheimer disease 9, susceptibility to	AD
ALS2	606352	Amyotrophic lateral sclerosis 2, juvenile;Spastic paralysis, infantile onset ascending;Primary lateral sclerosis, juvenile	AR
ANG	105850	Amyotrophic lateral sclerosis 9
ANXA11	602572	Amytrophic lateral sclerosis 23;Inclusion body myopathy and brain white matter abnormalities	AD
APOE	107741	Sea-blue histiocyte disease;Lipoprotein glomerulopathy;?Alzheimer disease, protection against, due to APOE3-Christchurch;Hyperlipoproteinemia, type III;Coronary artery disease, severe, susceptibility to;?Macular degeneration, age-related;Alzheimer disease 2	AR, AD
APP	104760	Alzheimer disease 1, familial;Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants	AD
ARSA	607574	Metachromatic leukodystrophy	AR
ATL1	606439	Spastic paraplegia 3A, AD;Neuropathy, hereditary sensory, type ID	AD
ATP7B	606882	Wilson disease	AR
ATXN2	601517	Spinocerebellar ataxia 2;Parkinson disease, late-onset, susceptibility to;Amyotrophic lateral sclerosis, susceptibility to, 13	AD, AD, MF
BSCL2	606158	Lipodystrophy, congenital generalized, type 2;Encephalopathy, progressive, with or without lipodystrophy;Silver spastic paraplegia syndrome;Neuropathy, distal hereditary motor, type VC	AR, AD
C9orf72	614260	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	AD
CCNF	600227	Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
CHCHD10	615903	?Myopathy, isolated MT, AD;Spinal muscular atrophy, Jokela type;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	AD
CHMP2B	609512	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	AD
CP	117700	Cerebellar ataxia;Hemosiderosis, systemic, due to aceruloplasminemia;[Hypoceruloplasminemia, hereditary]	AR
CSF1R	164770	Brain abnormalities, neurodegeneration, and dysosteosclerosis;Leukoencephalopathy, diffuse hereditary, with spheroids	AR, AD
CYLD	605018	Trichoepithelioma, multiple familial, 1;?Frontotemporal dementia and/or amytrophic lateral sclerosis 8;Cylindromatosis, familial;Brooke-Spiegler syndrome	AD
CYP27A1	606530	Cerebrotendinous xanthomatosis	AR
DCTN1	601143	Perry syndrome;Neuronopathy, distal hereditary motor, type VIIB;Amyotrophic lateral sclerosis, susceptibility to	AD, AD, AR
ERBB4	600543	Amyotrophic lateral sclerosis 19	AD
EWSR1	133450	Ewing sarcoma;Neuroepithelioma
FIG4	609390	Amyotrophic lateral sclerosis 11;Yunis-Varon syndrome;Charcot-Marie-Tooth disease, type 4J;?Polymicrogyria, bilateral temporooccipital	AD, AR
FTL	134790	Neurodegeneration with brain iron accumulation 3;Hyperferritinemia-cataract syndrome;L-ferritin deficiency, dominant and recessive	AD, AD, AR
FUS	137070	Essential tremor, hereditary, 4;Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia	AD
GLE1	603371	Congenital arthrogryposis with anterior horn cell disease;Lethal congenital contracture syndrome 1	AR
GRN	138945	Ceroid lipofuscinosis, neuronal, 11;Frontotemporal lobar degeneration with ubiquitin-positive inclusions;Aphasia, primary progressive	AR, AD
HEXA	606869	Tay-Sachs disease;[Hex A pseudodeficiency];GM2-gangliosidosis, several forms	AR
HNRNPA1	164017	Amyotrophic lateral sclerosis 20;?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3	AD
HNRNPA2B1	600124	?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	AD
HSPD1	118190	Leukodystrophy, hypomyelinating, 4;Spastic paraplegia 13, AD	AR, AD
ITM2B	603904	Dementia, familial British;?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities;Dementia, familial Danish	AD
KIF5A	602821	Amyotrophic lateral sclerosis, susceptibility to, 25;Myoclonus, intractable, neonatal;Spastic paraplegia 10, AD	AD
MAPT	157140	Parkinson disease, susceptibility to;Pick disease;Dementia, frontotemporal, with or without parkinsonism;Supranuclear palsy, progressive;Supranuclear palsy, progressive atypical	AD, MF, AD, AR
MATR3	164015	Amyotrophic lateral sclerosis 21	AD
MT-ATP6
MT-ATP8
MT-CO1
MT-CO2
MT-CO3
MT-CYB
MT-ND1
MT-ND2
MT-ND3
MT-ND4
MT-ND4L
MT-ND5
MT-ND6
MT-RNR1
MT-RNR2
MT-TA
MT-TC
MT-TD
MT-TE
MT-TF
MT-TG
MT-TH
MT-TI
MT-TK
MT-TL1
MT-TL2
MT-TM
MT-TN
MT-TP
MT-TQ
MT-TR
MT-TS1
MT-TS2
MT-TT
MT-TV
MT-TW
MT-TY
NEFH	162230	Charcot-Marie-Tooth disease, axonal, type 2CC;?Amyotrophic lateral sclerosis, susceptibility to	AD, AD, AR
NEK1	604588	Short-rib thoracic dysplasia 6 with or without polydactyly;Amyotrophic lateral sclerosis, susceptibility to, 24	AR, DR, AD
NOTCH3	600276	?Myofibromatosis, infantile 2;Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1;Lateral meningocele syndrome	AD
NPC1	607623	Niemann-Pick disease, type C1;Niemann-Pick disease, type D	AR
OPTN	602432	Glaucoma, normal tension, susceptibility to;Glaucoma 1, open angle, E;Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia	AD
PANK2	606157	HARP syndrome;Neurodegeneration with brain iron accumulation 1	AR
PFN1	176610	Amyotrophic lateral sclerosis 18
PRNP	176640	Insomnia, fatal familial;Creutzfeldt-Jakob disease;Gerstmann-Straussler disease;Prion disease with protracted course;Kuru, susceptibility to;Cerebral amyloid angiopathy, PRNP-related;Huntington disease-like 1	AD
PRPH	170710	Amyotrophic lateral sclerosis, susceptibility to	AD, AR
PSEN1	104311	Cardiomyopathy, dilated, 1U;Pick disease;Alzheimer disease, type 3;Alzheimer disease, type 3, with spastic paraparesis and apraxia;?Acne inversa, familial, 3;Dementia, frontotemporal;Alzheimer disease, type 3, with spastic paraparesis and unusual plaques	AD
PSEN2	600759	Alzheimer disease-4;Cardiomyopathy, dilated, 1V	AD
REEP1	609139	Spastic paraplegia 31, AD;?Neuronopathy, distal hereditary motor, type VB	AD
SETX	608465	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;Amyotrophic lateral sclerosis 4, juvenile	AR, AD
SIGMAR1	601978	?Amyotrophic lateral sclerosis 16, juvenile;?Spinal muscular atrophy, distal, autosomal recessive, 2	AR
SLC52A3	613350	?Fazio-Londe disease;Brown-Vialetto-Van Laere syndrome 1	AR
SNCA	163890	Parkinson disease 1;Dementia, Lewy body;Parkinson disease 4	AD
SOD1	147450	Spastic tetraplegia and axial hypotonia, progressive;Amyotrophic lateral sclerosis 1	AR, AD, AR
SORL1	602005
SPAST	604277	Spastic paraplegia 4, AD	AD
SPG11	610844	Spastic paraplegia 11, AR;Amyotrophic lateral sclerosis 5, juvenile;Charcot-Marie-Tooth disease, axonal, type 2X	AR
SQSTM1	601530	Paget disease of bone 3;Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset;Myopathy, distal, with rimmed vacuoles;Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	AD, AR
TAF15	601574	Chondrosarcoma, extraskeletal myxoid
TARDBP	605078	Frontotemporal lobar degeneration, TARDBP-related;Amyotrophic lateral sclerosis 10, with or without FTD	AD
TBK1	604834	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	AD
TFG	602498	Hereditary motor and sensory neuropathy, Okinawa type;?Spastic paraplegia 57, AR	AD, AR
TREM2	605086	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2	AR
TUBA4A	191110	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia	AD
TYROBP	604142	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	AR
UBE3A	601623	Angelman syndrome	AD
UBQLN2	300264	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	XLD
VAPB	605704	Spinal muscular atrophy, late-onset, Finkel type;Amyotrophic lateral sclerosis 8	AD
VCP	601023	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1;Charcot-Marie-Tooth disease, type 2Y;Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	AD
WASHC5	610657	Spastic paraplegia 8, AD;Ritscher-Schinzel syndrome 1	AD, AR
C9orf72	614260	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	AD
ATXN2	601517	Spinocerebellar ataxia 2;Parkinson disease, late-onset, susceptibility to;Amyotrophic lateral sclerosis, susceptibility to, 13	AD, AD, MF
PRNP	176640	Insomnia, fatal familial;Creutzfeldt-Jakob disease;Gerstmann-Straussler disease;Prion disease with protracted course;Kuru, susceptibility to;Cerebral amyloid angiopathy, PRNP-related;Huntington disease-like 1	AD

Common syndromes and disorders covered

Alzheimer's disease
Dementia
Frontotemporal dementia
Hexosaminidase A deficiency
Niemann-Pick disease
Wilson´s disease

Epilepsy Panel

While some types of seizures are easily categorized (i.e., partial or generalized), others are not or might later develop into different types (i.e., partial seizures with secondary generalization) – making targeted panel testing less likely to succeed at reaching a diagnosis. Our epilepsy panel is a phenotype-directed panel that covers different types of seizure syndromes, covering Dravet syndrome, early infantile epileptic encephalopathy, epilepsy partial, epilepsy generalized, epilepsy absence, myoclonic epilepsy panel, and hypomagnesemia. This panel does not include mitochondrial genes (i.e., genes causing myoclonic epilepsy with ragged red fibers -MERRF-). If the clinical suspicion is oriented towards metabolic or mitochondrial disorders, please order CentoMito comprehensive.

No. of genes:	784
TAT:	25 days
Coverage:	≥99.0% ≥20x
Details:	CNV analysis included Includes repeat expansion analysis for CSTB mtDNA analysis included

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
AARS1	601065	Trichothiodystrophy 8, nonphotosensitive;Charcot-Marie-Tooth disease, axonal, type 2N;Developmental and epileptic encephalopathy 29;?Leukoencephalopathy, hereditary diffuse, with spheroids 2	AR, AD
AARS2	612035	Combined oxidative phosphorylation deficiency 8;Leukoencephalopathy, progressive, with ovarian failure	AR
ABAT	137150	GABA-transaminase deficiency	AR
ABCC8	600509	Diabetes mellitus, transient neonatal 2;Diabetes mellitus, noninsulin-dependent;Hyperinsulinemic hypoglycemia, familial, 1;Hypoglycemia of infancy, leucine-sensitive;Diabetes mellitus, permanent neonatal 3, with or without neurologic features	AD, AD, AR
ABCD1	300371	Adrenoleukodystrophy;Adrenomyeloneuropathy, adult	XLR
ABCD3	170995	?Bile acid synthesis defect, congenital, 5	AR
ACAD9	611103	MT complex I deficiency, nuclear type 20	AR
ACADM	607008	Acyl-CoA dehydrogenase, medium chain, deficiency of	AR
ACADS	606885	Acyl-CoA dehydrogenase, short-chain, deficiency of	AR
ACADVL	609575	VLCAD deficiency	AR
ACOX1	609751	Peroxisomal acyl-CoA oxidase deficiency;Mitchell syndrome	AR, AD
ACTL6B	612458	Developmental and epileptic encephalopathy 76;Intellectual developmental disorder with severe speech and ambulation defects	AR, AD
ACY1	104620	Aminoacylase 1 deficiency	AR
ADA	608958	Adenosine deaminase deficiency, partial;Severe combined immunodeficiency due to ADA deficiency	AR, SM
ADAM22	603709	?Developmental and epileptic encephalopathy 61	AR
ADAMTS10	608990	Weill-Marchesani syndrome 1, recessive	AR
ADAMTSL2	612277	Geleophysic dysplasia 1	AR
ADAR	146920	Aicardi-Goutieres syndrome 6;Dyschromatosis symmetrica hereditaria	AR, AD
ADGRG1	604110	Polymicrogyria, bilateral perisylvian;Polymicrogyria, bilateral frontoparietal	AR
ADSL	608222	Adenylosuccinase deficiency	AR
AFF3	601464	KINSSHIP syndrome	AD
AFG3L2	604581	Spinocerebellar ataxia 28;Spastic ataxia 5, AR;Optic atrophy 12	AD, AR
AGA	613228	Aspartylglucosaminuria	AR
AGK	610345	Sengers syndrome;Cataract 38, AR	AR
AGPS	603051	Rhizomelic chondrodysplasia punctata, type 3	AR
AIFM1	300169	Cowchock syndrome;Combined oxidative phosphorylation deficiency 6;Deafness, X-linked 5;Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy	XLR
AIMP1	603605	Leukodystrophy, hypomyelinating, 3	AR
AIMP2	600859	Leukodystrophy, hypomyelinating, 17	AR
ALDH3A2	609523	Sjogren-Larsson syndrome	AR
ALDH5A1	610045	Succinic semialdehyde dehydrogenase deficiency	AR
ALDH7A1	107323	Epilepsy, pyridoxine-dependent	AR
ALDOB	612724	Fructose intolerance, hereditary	AR
ALG1	605907	Congenital disorder of glycosylation, type Ik	AR
ALG11	613666	Congenital disorder of glycosylation, type Ip	AR
ALG12	607144	Congenital disorder of glycosylation, type Ig	AR
ALG13	300776	?Congenital disorder of glycosylation, type Is;Developmental and epileptic encephalopathy 36	XL
ALG2	607905	?Congenital disorder of glycosylation, type Ii;Myasthenic syndrome, congenital, 14, with tubular aggregates	AR
ALG3	608750	Congenital disorder of glycosylation, type Id	AR
ALG6	604566	Congenital disorder of glycosylation, type Ic	AR
ALG8	608103	Polycystic liver disease 3 with or without kidney cysts;Congenital disorder of glycosylation, type Ih	AD, AR
ALG9	606941	Congenital disorder of glycosylation, type Il;Gillessen-Kaesbach-Nishimura syndrome	AR
ALPL	171760	Hypophosphatasia, infantile;Odontohypophosphatasia;Hypophosphatasia, childhood;Hypophosphatasia, adult	AR, AD, AR
AMPD2	102771	?Spastic paraplegia 63;Pontocerebellar hypoplasia, type 9	AR
AMT	238310	Glycine encephalopathy	AR
ANK3	600465	Mental retardation, autosomal recessive, 37	AR
ANTXR2	608041	Hyaline fibromatosis syndrome	AR
AP2M1	601024	Intellectual developmental disorder 60 with seizures	AD
AP3B1	603401	Hermansky-Pudlak syndrome 2	AR
AP3B2	602166	Developmental and epileptic encephalopathy 48	AR
AP4B1	607245	Spastic paraplegia 47, AR	AR
AP4E1	607244	Stuttering, familial persistent, 1;Spastic paraplegia 51, AR	AD, AR
AP4M1	602296	Spastic paraplegia 50, AR	AR
AP4S1	607243	Spastic paraplegia 52, AR	AR
APP	104760	Alzheimer disease 1, familial;Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants	AD
APTX	606350	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	AR
ARG1	608313	Argininemia	AR
ARHGAP31	610911	Adams-Oliver syndrome 1	AD
ARHGEF9	300429	Developmental and epileptic encephalopathy 8	XL
ARSA	607574	Metachromatic leukodystrophy	AR
ARSB	611542	Mucopolysaccharidosis type VI (Maroteaux-Lamy)	AR
ARV1	611647	Developmental and epileptic encephalopathy 38	AR
ARX	300382	Developmental and epileptic encephalopathy 1;Mental retardation, X-linked 29 and others;Hydranencephaly with abnormal genitalia;Partington syndrome;Lissencephaly, X-linked 2;Proud syndrome	XLR, XL
ASAH1	613468	Spinal muscular atrophy with progressive myoclonic epilepsy;Farber lipogranulomatosis	AR
ASL	608310	Argininosuccinic aciduria	AR
ASNS	108370	Asparagine synthetase deficiency	AR
ASPA	608034	Canavan disease	AR
ASS1	603470	Citrullinemia	AR
ASXL1	612990	Bohring-Opitz syndrome;Myelodysplastic syndrome, somatic	AD
ATM	607585	Breast cancer, susceptibility to;Ataxia-telangiectasia	AD, SM, AR
ATP13A2	610513	Spastic paraplegia 78, AR;Kufor-Rakeb syndrome	AR
ATP1A2	182340	Developmental and epileptic encephalopathy 98;Alternating hemiplegia of childhood 1;Migraine, familial basilar;Migraine, familial hemiplegic, 2;Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	AD, AR
ATP6AP1	300197	Immunodeficiency 47	XLR
ATP6V0A2	611716	Cutis laxa, autosomal recessive, type IIA;Wrinkly skin syndrome	AR
ATP6V1A	607027	Epileptic encephalopathy, infantile or early childhood, 3;Cutis laxa, autosomal recessive, type IID	AD, AR
ATP7A	300011	Menkes disease;Occipital horn syndrome;Spinal muscular atrophy, distal, X-linked 3	XLR
ATP7B	606882	Wilson disease	AR
ATPAF2	608918	?MT complex V (ATP synthase) deficiency, nuclear type 1	AR
ATRX	300032	Mental retardation-hypotonic facies syndrome, X-linked;Alpha-thalassemia/mental retardation syndrome;Alpha-thalassemia myelodysplasia syndrome, somatic	XLR, XLD
AUH	600529	3-methylglutaconic aciduria, type I	AR
B3GALNT2	610194	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11	AR
B3GLCT	610308	Peters-plus syndrome	AR
B4GALT1	137060	Congenital disorder of glycosylation, type IId	AR
BCAP31	300398	Deafness, dystonia, and cerebral hypomyelination	XLR
BCKDHA	608348	Maple syrup urine disease, type Ia	AR
BCKDHB	248611	Maple syrup urine disease, type Ib	AR
BCS1L	603647	GRACILE syndrome;Bjornstad syndrome;MT complex III deficiency, nuclear type 1	AR
BEST1	607854	Macular dystrophy, vitelliform, 2;Retinitis pigmentosa-50;?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2;Vitreoretinochoroidopathy;Bestrophinopathy, AR;Retinitis pigmentosa, concentric	AD
BOLA3	613183	Multiple MT dysfunctions syndrome 2 with hyperglycinemia	AR
BRAT1	614506	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures;Rigidity and multifocal seizure syndrome, lethal neonatal	AR
BTD	609019	Biotinidase deficiency	AR
C12orf57	615140	Temtamy syndrome	AR
C19orf12	614297	Neurodegeneration with brain iron accumulation 4;?Spastic paraplegia 43, AR	AD, AR, AR
CA5A	114761	Hyperammonemia due to carbonic anhydrase VA deficiency	AR
CACNA1A	601011	Episodic ataxia, type 2;Migraine, familial hemiplegic, 1;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia;Spinocerebellar ataxia 6;Developemental and epileptic encephalopathy 42	AD
CACNA1E	601013	Developmental and epileptic encephalopathy 69	AD
CACNA1H	607904	Hyperaldosteronism, familial, type IV;Epilepsy, childhood absence, susceptibility to, 6;Epilepsy, idiopathic generalized, susceptibility to, 6	AD
CACNA2D2	607082	Cerebellar atrophy with seizures and variable developmental delay	AR
CACNB4	601949	Epilepsy, juvenile myoclonic, susceptibility to, 6;Epilepsy, idiopathic generalized, susceptibility to, 9;Episodic ataxia, type 5	AD
CARS2	612800	Combined oxidative phosphorylation deficiency 27	AR
CASK	300172	Mental retardation, with or without nystagmus;Mental retardation and microcephaly with pontine and cerebellar hypoplasia;FG syndrome 4	XLD
CAV1	601047	Pulmonary hypertension, primary, 3;Lipodystrophy, familial partial, type 7;?Lipodystrophy, congenital generalized, type 3	AD, AR
CBS	613381	Thrombosis, hyperhomocysteinemic;Homocystinuria, B6-responsive and nonresponsive types	AR
CCDC115	613734	Congenital disorder of glycosylation, type IIo	AR
CCDC88A	609736	?PEHO syndrome-like	AR
CDKL5	300203	Developmental and epileptic encephalopathy 2	XLD
CERS1	606919	?Epilepsy, progressive myoclonic, 8	AR
CHD2	602119	Epileptic encephalopathy, childhood-onset	AD
CHMP2B	609512	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	AD
CHRNA2	118502	Epilepsy, nocturnal frontal lobe, type 4	AD
CHRNA4	118504	Nicotine addiction, susceptibility to;Epilepsy, nocturnal frontal lobe, 1	AD
CHRNA7	118511
CHRNB2	118507	Epilepsy, nocturnal frontal lobe, 3
CIC	612082	Mental retardation, AD 45	AD
CLCN2	600570	Epilepsy, juvenile absence, susceptibility to, 2;Hyperaldosteronism, familial, type II;Epilepsy, juvenile myoclonic, susceptibility to, 8;Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with ataxia	AD, AR
CLCN4	302910	Raynaud-Claes syndrome	XLD
CLDN16	603959	Hypomagnesemia 3, renal	AR
CLDN19	610036	Hypomagnesemia 5, renal, with ocular involvement	AR
CLN3	607042	Ceroid lipofuscinosis, neuronal, 3	AR
CLN5	608102	Ceroid lipofuscinosis, neuronal, 5	AR
CLN6	606725	Ceroid lipofuscinosis, neuronal, Kufs type, adult onset;Ceroid lipofuscinosis, neuronal, 6	AR
CLN8	607837	Ceroid lipofuscinosis, neuronal, 8;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant	AR
CLP1	608757	Pontocerebellar hypoplasia, type 10	AR
CLPP	601119	Perrault syndrome 3	AR
CLTC	118955	Mental retardation, AD 56	AD
CNNM2	607803	Hypomagnesemia 6, renal;Hypomagnesemia, seizures, and mental retardation	AD, AD, AR
CNPY3	610774	Developmental and epileptic encephalopathy 60	AR
CNTNAP1	602346	Lethal congenital contracture syndrome 7;Hypomyelinating neuropathy, congenital, 3	AR
CNTNAP2	604569	Cortical dysplasia-focal epilepsy syndrome;Pitt-Hopkins like syndrome 1;Autism susceptibility 15	AR
COA7	615623	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	AR
COA8	616003	MT complex IV deficiency, nuclear type 17	AR
COASY	609855	Neurodegeneration with brain iron accumulation 6;Pontocerebellar hypoplasia, type 12	AR
COG1	606973	Congenital disorder of glycosylation, type IIg	AR
COG4	606976	Congenital disorder of glycosylation, type IIj;Saul-Wilson syndrome	AR, AD
COG5	606821	Congenital disorder of glycosylation, type IIi	AR
COG6	606977	Shaheen syndrome;Congenital disorder of glycosylation, type IIl	AR
COG7	606978	Congenital disorder of glycosylation, type IIe	AR
COG8	606979	Congenital disorder of glycosylation, type IIh
COL11A2	120290	Deafness, autosomal recessive 53;Otospondylomegaepiphyseal dysplasia, AR;Fibrochondrogenesis 2;Otospondylomegaepiphyseal dysplasia, AD;Deafness, AD 13	AR, AD, AR, AD
COL18A1	120328	Glaucoma, primary closed-angle;Knobloch syndrome, type 1	AD, AR
COL2A1	120140	Legg-Calve-Perthes disease;Stickler syndrome, type I;Osteoarthritis with mild chondrodysplasia;Platyspondylic skeletal dysplasia, Torrance type;Spondyloepiphyseal dysplasia, Stanescu type;Kniest dysplasia;Czech dysplasia;Stickler sydrome, type I, nonsyndromic ocular;?Vitreoretinopathy with phalangeal epiphyseal dysplasia;?Epiphyseal dysplasia, multiple, with myopia and deafness;Avascular necrosis of the femoral head;Spondyloperipheral dysplasia;Achondrogenesis, type II or hypochondrogenesis;SMED Strudwick type;SED congenita	AD
COL4A1	120130	?Retinal arteries, tortuosity of;Hemorrhage, intracerebral, susceptibility to;Microangiopathy and leukoencephalopathy, pontine, AD;Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with or without ocular anomalies	AD
COL4A2	120090	Hemorrhage, intracerebral, susceptibility to;Brain small vessel disease 2	AD
COLGALT1	617531	Brain small vessel disease 3	AR
COQ2	609825	Coenzyme Q10 deficiency, primary, 1;Multiple system atrophy, susceptibility to	AR, AD, AR
COQ8A	606980	Coenzyme Q10 deficiency, primary, 4	AR
COQ9	612837	Coenzyme Q10 deficiency, primary, 5	AR
COX10	602125	MT complex IV deficiency, nuclear type 3	AR
COX15	603646	MT complex IV deficiency, nuclear type 6	AR
COX20	614698	MT complex IV deficiency, nuclear type 11	AR
COX6B1	124089	MT complex IV deficiency, nuclear type 7	AR
CP	117700	Cerebellar ataxia;Hemosiderosis, systemic, due to aceruloplasminemia;[Hypoceruloplasminemia, hereditary]	AR
CPA6	609562	Febrile seizures, familial, 11;Epilepsy, familial temporal lobe, 5	AR, AD, AR
CPLX1	605032	Developmental and epileptic encephalopathy 63	AR
CPS1	608307	Carbamoylphosphate synthetase I deficiency;Pulmonary hypertension, neonatal, susceptibility to	AR
CPT1A	600528	CPT deficiency, hepatic, type IA	AR
CPT2	600650	CPT II deficiency, myopathic, stress-induced;CPT II deficiency, infantile;Encephalopathy, acute, infection-induced, 4, susceptibility to;CPT II deficiency, lethal neonatal	AD, AR, AR
CSF1R	164770	Brain abnormalities, neurodegeneration, and dysosteosclerosis;Leukoencephalopathy, diffuse hereditary, with spheroids	AR, AD
CSNK2B	115441	Poirier-Bienvenu neurodevelopmental syndrome	AD
CSTB	601145	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)	AR
CTC1	613129	Cerebroretinal microangiopathy with calcifications and cysts	AR
CTNNA2	114025	Cortical dysplasia, complex, with other brain malformations 9	AR
CTNS	606272	Cystinosis, late-onset juvenile or adolescent nephropathic;Cystinosis, ocular nonnephropathic;Cystinosis, nephropathic;Cystinosis, atypical nephropathic	AR
CTSA	613111	Galactosialidosis	AR
CTSC	602365	Periodontitis 1, juvenile;Haim-Munk syndrome;Papillon-Lefevre syndrome	AR
CTSD	116840	Ceroid lipofuscinosis, neuronal, 10	AR
CTSF	603539	Ceroid lipofuscinosis, neuronal, 13, Kufs type	AR
CTSK	601105	Pycnodysostosis	AR
CYFIP2	606323	Developmental and epileptic encephalopathy 65	AD
CYP27A1	606530	Cerebrotendinous xanthomatosis	AR
CYP2U1	610670	Spastic paraplegia 56, AR	AR
CYP7B1	603711	Spastic paraplegia 5A, AR;Bile acid synthesis defect, congenital, 3	AR
D2HGDH	609186	D-2-hydroxyglutaric aciduria	AR
DAG1	128239	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	AR
DARS1	603084	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	AR
DARS2	610956	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	AR
DBT	248610	Maple syrup urine disease, type II	AR
DCAF17	612515	Woodhouse-Sakati syndrome	AR
DCX	300121	Lissencephaly, X-linked;Subcortical laminal heterotopia, XL	XL
DEAF1	602635	Vulto-van Silfout-de Vries syndrome;Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures	AD, AR
DEGS1	615843	Leukodystrophy, hypomyelinating, 18	AR
DENND5A	617278	Developmental and epileptic encephalopathy 49	AR
DEPDC5	614191	Epilepsy, familial focal, with variable foci 1	AD
DGUOK	601465	Portal hypertension, noncirrhotic;Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 4;MT DNA depletion syndrome 3 (hepatocerebral type)	AR
DHCR7	602858	Smith-Lemli-Opitz syndrome	AR
DHDDS	608172	Developmental delay and seizures with or without movement abnormalities;Retinitis pigmentosa 59;?Congenital disorder of glycosylation, type 1bb	AD, AR
DHFR	126060	Megaloblastic anemia due to dihydrofolate reductase deficiency	AR
DHX30	616423	Neurodevelopmental disorder with severe motor impairment and absent language	AD
DIAPH1	602121	Seizures, cortical blindness, microcephaly syndrome;Deafness, AD 1, with or without thrombocytopenia	AR, AD
DKC1	300126	Dyskeratosis congenita, XL	XLR
DLAT	608770	Pyruvate dehydrogenase E2 deficiency	AR
DLD	238331	Dihydrolipoamide dehydrogenase deficiency	AR
DLL3	602768	Spondylocostal dysostosis 1, AR	AR
DNAJC5	611203	Ceroid lipofuscinosis, neuronal, 4, Parry type	AD
DNM1	602377	Developmental and epileptic encephalopathy 31	AD
DNM1L	603850	Optic atrophy 5;Encephalopathy, lethal, due to defective MT peroxisomal fission 1	AD, AD, AR
DOCK6	614194	Adams-Oliver syndrome 2	AR
DOCK7	615730	Developmental and epileptic encephalopathy 23	AR
DOLK	610746	Congenital disorder of glycosylation, type Im	AR
DPAGT1	191350	Myasthenic syndrome, congenital, 13, with tubular aggregates;Congenital disorder of glycosylation, type Ij	AR
DPM1	603503	Congenital disorder of glycosylation, type Ie	AR
DPM2	603564	Congenital disorder of glycosylation, type Iu	AR
DPM3	605951	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15;?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15	AR
DPYD	612779	5-fluorouracil toxicity;Dihydropyrimidine dehydrogenase deficiency	AR
DPYS	613326	Dihydropyrimidinuria	AR
DYM	607461	Dyggve-Melchior-Clausen disease;Smith-McCort dysplasia	AR
DYRK1A	600855	Mental retardation, AD 7	AD
EARS2	612799	Combined oxidative phosphorylation deficiency 12	AR
ECHS1	602292	MT short-chain enoyl-CoA hydratase 1 deficiency	AR
EEF1A2	602959	Mental retardation, AD 38;Developmental and epileptic encephalopathy 33	AD
EFHC1	608815	Epilepsy, juvenile absence, susceptibility to, 1;Myoclonic epilepsy, juvenile, susceptibility to, 1	AD
EGF	131530	Hypomagnesemia 4, renal	AR
EIF2B1	606686	Leukoencephalopathy with vanishing white matter	AR
EIF2B2	606454	Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter	AR
EIF2B3	606273	Leukoencephalopathy with vanishing white matter	AR
EIF2B4	606687	Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter	AR
EIF2B5	603945	Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter	AR
EIF3F	603914	Mental retardation, autosomal recessive 67	AR
EMC10	614545	Neurodevelopmental disorder with dysmorphic facies and variable seizures	AR
EML1	602033	Band heterotopia	AR
EPG5	615068	Vici syndrome	AR
EPM2A	607566	Epilepsy, progressive myoclonic 2A (Lafora)	AR
EPRS1	138295	Leukodystrophy, hypomyelinating, 15	AR
ERCC6	609413	Lung cancer, susceptibility to;UV-sensitive syndrome 1;Premature ovarian failure 11;Macular degeneration, age-related, susceptibility to, 5;Cockayne syndrome, type B;De Sanctis-Cacchione syndrome;Cerebrooculofacioskeletal syndrome 1	AD, SM, AR, AD
ERCC8	609412	Cockayne syndrome, type A;UV-sensitive syndrome 2	AR
ETFA	608053	Glutaric acidemia IIA	AR
ETFB	130410	Glutaric acidemia IIB	AR
ETFDH	231675	Glutaric acidemia IIC	AR
ETHE1	608451	Ethylmalonic encephalopathy	AR
F2	176930	Dysprothrombinemia;Stroke, ischemic, susceptibility to;Pregnancy loss, recurrent, susceptibility to, 2;Hypoprothrombinemia;Thrombophilia due to thrombin defect	AR, MF, AD
F5	612309	Pregnancy loss, recurrent, susceptibility to, 1;Factor V deficiency;Stroke, ischemic, susceptibility to;Budd-Chiari syndrome;Thrombophilia, susceptibility to, due to factor V Leiden;Thrombophilia due to activated protein C resistance	AD, AR, MF
FA2H	611026	Spastic paraplegia 35, AR	AR
FAH	613871	Tyrosinemia, type I	AR
FAM126A	610531	Leukodystrophy, hypomyelinating, 5	AR
FARS2	611592	Combined oxidative phosphorylation deficiency 14;Spastic paraplegia 77, AR	AR
FARSB	609690	Rajab interstitial lung disease with brain calcifications 1	AR
FASTKD2	612322	Combined oxidative phosphorylation deficiency 44	AR
FBXL4	605654	MT DNA depletion syndrome 13 (encephalomyopathic type)	AR
FDX2	614585	MT myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	AR
FGF12	601513	Developmental and epileptic encephalopathy 47	AD
FH	136850	Fumarase deficiency;Leiomyomatosis and renal cell cancer	AR, AD
FHL1	300163	Reducing body myopathy, X-linked 1b, with late childhood or adult onset;Scapuloperoneal myopathy, XLD;?Uruguay faciocardiomusculoskeletal syndrome;Myopathy, X-linked, with postural muscle atrophy;Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset;Emery-Dreifuss muscular dystrophy 6, XL	XL, XLD, XLR
FIG4	609390	Amyotrophic lateral sclerosis 11;Yunis-Varon syndrome;Charcot-Marie-Tooth disease, type 4J;?Polymicrogyria, bilateral temporooccipital	AD, AR
FKRP	606596	Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	AR
FLVCR2	610865	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	AR
FOLR1	136430	Neurodegeneration due to cerebral folate transport deficiency	AR
FOXG1	164874	Rett syndrome, congenital variant	AD
FOXRED1	613622	MT complex I deficiency, nuclear type 19	AR
FRRS1L	604574	Developmental and epileptic encephalopathy 37	AR
FTL	134790	Neurodegeneration with brain iron accumulation 3;Hyperferritinemia-cataract syndrome;L-ferritin deficiency, dominant and recessive	AD, AD, AR
FUCA1	612280	Fucosidosis	AR
FUT8	602589	Congenital disorder of glycosylation with defective fucosylation 1	AR
FXYD2	601814	Hypomagnesemia 2, renal	AD
GAA	606800	Glycogen storage disease II	AR
GABBR2	607340	Nicotine dependence, susceptibility to;Neurodevelopmental disorder with poor language and loss of hand skills;Developmental and epileptic encephalopathy 59;Nicotine dependence, protection against	AD
GABRA1	137160	Developmental and epileptic encephalopathy 19;Epilepsy, childhood absence, susceptibility to, 4;Epilepsy, juvenile myoclonic, susceptibility to, 5	AD
GABRA2	137140	Alcohol dependence, susceptibility to;Developmental and epileptic encephalopathy 78	MF, AD
GABRB1	137190	Developmental and epileptic encephalopathy 45	AD
GABRB2	600232	Epileptic encephalopathy, infantile or early childhood, 2	AD
GABRB3	137192	Epilepsy, childhood absence, susceptibility to, 5;Developmental and epileptic encephalopathy 43	AD
GABRD	137163	Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to;Epilepsy, juvenile myoclonic, susceptibility to;Epilepsy, idiopathic generalized, 10	AD
GABRG2	137164	Developmental and epileptic encephalopathy 74;Epilepsy, generalized, with febrile seizures plus, type 3;Febrile seizures, familial, 8	AD
GAD1	605363	?Cerebral palsy, spastic quadriplegic, 1;Developmental and epileptic encephalopathy 89	AR
GALC	606890	Krabbe disease	AR
GALNS	612222	Mucopolysaccharidosis IVA	AR
GALT	606999	Galactosemia	AR
GAMT	601240	Cerebral creatine deficiency syndrome 2	AR
GAN	605379	Giant axonal neuropathy-1	AR
GBA	606463	Lewy body dementia, susceptibility to;Gaucher disease, type IIIC;Parkinson disease, late-onset, susceptibility to;Gaucher disease, type II;Gaucher disease, type III;Gaucher disease, perinatal lethal;Gaucher disease, type I	AD, AR, AD, MF
GBE1	607839	Glycogen storage disease IV;Polyglucosan body disease, adult form	AR
GCDH	608801	Glutaricaciduria, type I	AR
GCH1	600225	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia;Hyperphenylalaninemia, BH4-deficient, B	AD, AR, AR
GFAP	137780	Alexander disease	AD
GFER	600924	Myopathy, MT progressive, with congenital cataract and developmental delay	AR
GFM1	606639	Combined oxidative phosphorylation deficiency 1	AR
GFM2	606544	Combined oxidative phosphorylation deficiency 39	AR
GFPT1	138292	Myasthenia, congenital, 12, with tubular aggregates	AR
GJA1	121014	Oculodentodigital dysplasia, AR;Atrioventricular septal defect 3;Syndactyly, type III;Craniometaphyseal dysplasia, AR;Palmoplantar keratoderma with congenital alopecia;Oculodentodigital dysplasia;Hypoplastic left heart syndrome 1;Erythrokeratodermia variabilis et progressiva 3	AR, AD
GJB1	304040	Charcot-Marie-Tooth neuropathy, XLD, 1	XLD
GJC2	608803	Leukodystrophy, hypomyelinating, 2;Spastic paraplegia 44, AR;Lymphatic malformation 3	AR, AD
GLA	300644	Fabry disease;Fabry disease, cardiac variant	XL
GLB1	611458	GM1-gangliosidosis, type II;GM1-gangliosidosis, type I;Mucopolysaccharidosis type IVB (Morquio);GM1-gangliosidosis, type III	AR
GLDC	238300	Glycine encephalopathy	AR
GLUD1	138130	Hyperinsulinism-hyperammonemia syndrome	AD
GLUL	138290	Glutamine deficiency, congenital	AR
GM2A	613109	GM2-gangliosidosis, AB variant	AR
GMPPA	615495	Alacrima, achalasia, and mental retardation syndrome	AR
GNAO1	139311	Developmental and epileptic encephalopathy 17;Neurodevelopmental disorder with involuntary movements	AD
GNAQ	600998	Capillary malformations, congenital, 1, somatic, mosaic;Sturge-Weber syndrome, somatic, mosaic
GNB5	604447	Intellectual developmental disorder with cardiac arrhythmia;Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia	AR
GNE	603824	Nonaka myopathy;Sialuria	AR, AD
GNPAT	602744	Rhizomelic chondrodysplasia punctata, type 2	AR
GNPTAB	607840	Mucolipidosis III alpha/beta;Mucolipidosis II alpha/beta	AR
GNPTG	607838	Mucolipidosis III gamma	AR
GNS	607664	Mucopolysaccharidosis type IIID	AR
GOSR2	604027	Epilepsy, progressive myoclonic 6	AR
GOT2	138150	Epileptic encephalopathy, early infantile, 82	AR
GPAA1	603048	Glycosylphosphatidylinositol biosynthesis defect 15	AR
GPC3	300037	Simpson-Golabi-Behmel syndrome, type 1;Wilms tumor, somatic	XLR
GRIA2	138247	Neurodevelopmental disorder with language impairment and behavioral abnormalities	AD
GRIN1	138249	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, AR;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, AD	AR, AD
GRIN2A	138253	Epilepsy, focal, with speech disorder and with or without mental retardation	AD
GRIN2B	138252	Mental retardation, AD 6;Developmental and epileptic encephalopathy 27	AD
GRIN2D	602717	Developmental and epileptic encephalopathy 46	AD
GRN	138945	Ceroid lipofuscinosis, neuronal, 11;Frontotemporal lobar degeneration with ubiquitin-positive inclusions;Aphasia, primary progressive	AR, AD
GTPBP2	607434	Jaberi-Elahi syndrome	AR
GTPBP3	608536	Combined oxidative phosphorylation deficiency 23	AR
GUF1	617064	?Developmental and epileptic encephalopathy 40	AR
GUSB	611499	Mucopolysaccharidosis VII	AR
HACE1	610876	Spastic paraplegia and psychomotor retardation with or without seizures	AR
HADHA	600890	HELLP syndrome, maternal, of pregnancy;LCHAD deficiency;Fatty liver, acute, of pregnancy;MT trifunctional protein deficiency	AR
HADHB	143450	Trifunctional protein deficiency	AR
HCFC1	300019	Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )	XLR
HCN1	602780	Generalized epilepsy with febrile seizures plus, type 10;Developmental and epileptic encephalopathy 24	AD
HEPACAM	611642	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation;Megalencephalic leukoencephalopathy with subcortical cysts 2A	AD, AR
HEXA	606869	Tay-Sachs disease;[Hex A pseudodeficiency];GM2-gangliosidosis, several forms	AR
HEXB	606873	Sandhoff disease, infantile, juvenile, and adult forms	AR
HGSNAT	610453	Mucopolysaccharidosis type IIIC (Sanfilippo C);Retinitis pigmentosa 73	AR
HIBCH	610690	3-hydroxyisobutryl-CoA hydrolase deficiency	AR
HIKESHI	614908	Leukodystrophy, hypomyelinating, 13	AR
HLCS	609018	Holocarboxylase synthetase deficiency	AR
HMGCL	613898	HMG-CoA lyase deficiency	AR
HMGCS2	600234	HMG-CoA synthase-2 deficiency	AR
HNRNPR	607201
HNRNPU	602869	Developmental and epileptic encephalopathy 54	AD
HRAS	190020	Thyroid carcinoma, follicular, somatic;Spitz nevus or nevus spilus, somatic;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic;Bladder cancer, somatic;Costello syndrome;Nevus sebaceous or woolly hair nevus, somatic;Congenital myopathy with excess of muscle spindles	AD
HSD17B4	601860	Perrault syndrome 1;D-bifunctional protein deficiency	AR
HSPD1	118190	Leukodystrophy, hypomyelinating, 4;Spastic paraplegia 13, AD	AR, AD
HTRA1	602194	Macular degeneration, age-related, 7;CARASIL syndrome;Cerebral arteriopathy, AD, with subcortical infarcts and leukoencephalopathy, type 2;Macular degeneration, age-related, neovascular type	AR, AD
IARS2	612801	?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	AR
IBA57	615316	?Spastic paraplegia 74, AR;Multiple MT dysfunctions syndrome 3	AR
IDS	300823	Mucopolysaccharidosis II	XLR
IDUA	252800	Mucopolysaccharidosis Is;Mucopolysaccharidosis Ih/s;Mucopolysaccharidosis Ih	AR
IER3IP1	609382	Microcephaly, epilepsy, and diabetes syndrome	AR
IFIH1	606951	Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1	AD
IQSEC2	300522	Mental retardation, X-linked 1/78	XLD
ISCA2	615317	Multiple MT dysfunctions syndrome 4	AR
ITPA	147520	Developmental and epileptic encephalopathy 35;[Inosine triphosphatase deficiency]	AR
IVD	607036	Isovaleric acidemia	AR
JAG1	601920	Alagille syndrome 1;Charcot-Marie-Tooth disease, axonal, type 2HH;?Deafness, congenital heart defects, and posterior embryotoxon;Tetralogy of Fallot	AD
JAM3	606871	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts	AR
KAT8	609912	Li-Ghorgani-Weisz-Hubshman syndrome	AD
KCNA1	176260	Episodic ataxia/myokymia syndrome	AD
KCNA2	176262	Developmental and epileptic encephalopathy 32	AD
KCNB1	600397	Developmental and epileptic encephalopathy 26	AD
KCNC1	176258	Epilepsy, progressive myoclonic 7	AD
KCNH1	603305	Zimmermann-Laband syndrome 1;Temple-Baraitser syndrome	AD
KCNJ10	602208	Enlarged vestibular aqueduct, digenic;SESAME syndrome	AR
KCNK4	605720	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	AD
KCNMA1	600150	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy;Epilepsy, idiopathic generalized, susceptibility to, 16;Liang-Wang syndrome;Cerebellar atrophy, developmental delay, and seizures	AD, AR
KCNQ2	602235	Seizures, benign neonatal, 1;Developmental and epileptic encephalopathy 7;Myokymia	AD
KCNQ3	602232	Seizures, benign neonatal, 2	AD
KCNT1	608167	Developmental and epileptic encephalopathy 14;Epilepsy nocturnal frontal lobe, 5	AD
KCNT2	610044	?Developmental and epileptic encephalopathy 57	AD
KCTD3	613272
KCTD7	611725	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions	AR
KIAA1109	611565	Alkuraya-Kucinskas syndrome	AR
KIF2A	602591	Cortical dysplasia, complex, with other brain malformations 3	AD
KIF5A	602821	Amyotrophic lateral sclerosis, susceptibility to, 25;Myoclonus, intractable, neonatal;Spastic paraplegia 10, AD	AD
KMT2E	608444	O'Donnell-Luria-Rodan syndrome	AD
L2HGDH	609584	L-2-hydroxyglutaric aciduria	AR
LAMA2	156225	Muscular dystrophy, congenital, merosin deficient or partially deficient;Muscular dystrophy, limb-girdle, autosomal recessive 23	AR
LAMB1	150240	Lissencephaly 5	AR
LAMP2	309060	Danon disease	XLD
LARGE1	603590	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6	AR
LAT	602354	Immunodeficiency 52	AR
LDB3	605906	Cardiomyopathy, hypertrophic, 24;Myopathy, myofibrillar, 4;Cardiomyopathy, dilated, 1C, with or without LVNC;Left ventricular noncompaction 3	AD
LGI1	604619	Epilepsy, familial temporal lobe, 1	AD
LIAS	607031	Hyperglycinemia, lactic acidosis, and seizures	AR
LIPA	613497	Wolman disease;Cholesteryl ester storage disease	AR
LIPT1	610284	Lipoyltransferase 1 deficiency	AR
LMNB1	150340	Leukodystrophy, adult-onset, AD;Microcephaly 26, primary, AD	AD
LRPPRC	607544	MT complex IV deficiency, nuclear type 5, (French-Canadian)	AR
LYRM7	615831	MT complex III deficiency, nuclear type 8	AR
LYST	606897	Chediak-Higashi syndrome	AR
MAF	177075	Ayme-Gripp syndrome;Cataract 21, multiple types	AD
MAGT1	300715	Congenital disorder of glycosylation, type Icc;Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia	XLR
MAN1B1	604346	Rafiq syndrome	AR
MAN2B1	609458	Mannosidosis, alpha-, types I and II	AR
MANBA	609489	Mannosidosis, beta	AR
MAP2K1	176872	Cardiofaciocutaneous syndrome 3;Melorheostosis, isolated, somatic mosaic	AD
MAP2K2	601263	Cardiofaciocutaneous syndrome 4	AD
MARS2	609728	Spastic ataxia 3, AR;?Combined oxidative phosphorylation deficiency 25	AR
MBD5	611472	Mental retardation, AD 1	AD
MCCC1	609010	3-Methylcrotonyl-CoA carboxylase 1 deficiency	AR
MCCC2	609014	3-Methylcrotonyl-CoA carboxylase 2 deficiency	AR
MCOLN1	605248	Mucolipidosis IV	AR
MDH2	154100	Developmental and epileptic encephalopathy 51	AR
MECP2	300005	Rett syndrome, preserved speech variant;Encephalopathy, neonatal severe;Mental retardation, X-linked, syndromic 13;Rett syndrome;Mental retardation, X-linked syndromic, Lubs type;Rett syndrome, atypical;Autism susceptibility, X-linked 3	XLD, XLR, XL
MECR	608205	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	AR
MED17	603810	Microcephaly, postnatal progressive, with seizures and brain atrophy	AR
MEF2C	600662	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations;Chromosome 5q14.3 deletion syndrome	AD
MFF	614785	Encephalopathy due to defective MT and peroxisomal fission 2	AR
MFN2	608507	Hereditary motor and sensory neuropathy VIA;Charcot-Marie-Tooth disease, axonal, type 2A2B;Charcot-Marie-Tooth disease, axonal, type 2A2A	AD, AR
MFSD8	611124	Ceroid lipofuscinosis, neuronal, 7;Macular dystrophy with central cone involvement	AR
MGAT2	602616	Congenital disorder of glycosylation, type IIa	AR
MGME1	615076	MT DNA depletion syndrome 11	AR
MLC1	605908	Megalencephalic leukoencephalopathy with subcortical cysts	AR
MLPH	606526	Griscelli syndrome, type 3	AR
MMAA	607481	Methylmalonic aciduria, vitamin B12-responsive	AR
MMAB	607568	Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	AR
MMACHC	609831	Methylmalonic aciduria and homocystinuria, cblC type	AR
MMADHC	611935	Methylmalonic aciduria and homocystinuria, cblD type;Methylmalonic aciduria, cblD type, variant 2;Homocystinuria, cblD type, variant 1	AR
MMUT	609058	Methylmalonic aciduria, mut(0) type	AR
MOCS1	603707	Molybdenum cofactor deficiency A	AR
MOCS2	603708	Molybdenum cofactor deficiency B	AR
MOGS	601336	Congenital disorder of glycosylation, type IIb	AR
MPDU1	604041	Congenital disorder of glycosylation, type If	AR
MPI	154550	Congenital disorder of glycosylation, type Ib	AR
MPV17	137960	Charcot-Marie-Tooth disease, axonal, type 2EE;MT DNA depletion syndrome 6 (hepatocerebral type)	AR
MRPS22	605810	Ovarian dysgenesis 7;Combined oxidative phosphorylation deficiency 5	AR
MT-ATP6
MT-ATP8
MT-CO1
MT-CO2
MT-CO3
MT-CYB
MT-ND1
MT-ND2
MT-ND3
MT-ND4
MT-ND4L
MT-ND5
MT-ND6
MT-RNR1
MT-RNR2
MT-TA
MT-TC
MT-TD
MT-TE
MT-TF
MT-TG
MT-TH
MT-TI
MT-TK
MT-TL1
MT-TL2
MT-TM
MT-TN
MT-TP
MT-TQ
MT-TR
MT-TS1
MT-TS2
MT-TT
MT-TV
MT-TW
MT-TY
MTFMT	611766	Combined oxidative phosphorylation deficiency 15;MT complex I deficiency, nuclear type 27	AR
MTHFR	607093	Neural tube defects, susceptibility to;Homocystinuria due to MTHFR deficiency;Schizophrenia, susceptibility to;Thromboembolism, susceptibility to	AR, AD
MTHFS	604197	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	AR
MTOR	601231	Focal cortical dysplasia, type II, somatic;Smith-Kingsmore syndrome	AD
MTR	156570	Neural tube defects, folate-sensitive, susceptibility to;Homocystinuria-megaloblastic anemia, cblG complementation type	AR
MTRFR	613541	Spastic paraplegia 55, AR;Combined oxidative phosphorylation deficiency 7	AR
MYO5A	160777	Griscelli syndrome, type 1	AR
MYOT	604103	Myopathy, myofibrillar, 3;Myopathy, spheroid body	AD
NAGA	104170	Schindler disease, type III;Kanzaki disease;Schindler disease, type I	AR
NAGLU	609701	?Charcot-Marie-Tooth disease, axonal, type 2V;Mucopolysaccharidosis type IIIB (Sanfilippo B)	AD, AR
NAGS	608300	N-acetylglutamate synthase deficiency	AR
NARS2	612803	?Deafness, autosomal recessive 94;Combined oxidative phosphorylation deficiency 24	AR
NAXD	615910	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	AR
NAXE	608862	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	AR
NBAS	608025	Short stature, optic nerve atrophy, and Pelger-Huet anomaly;Infantile liver failure syndrome 2	AR
NDE1	609449	Lissencephaly 4 (with microcephaly);?Microhydranencephaly	AR
NDUFA1	300078	MT complex I deficiency, nuclear type 12	XLR
NDUFA10	603835	MT complex I deficiency, nuclear type 22	AR
NDUFA11	612638	MT complex I deficiency, nuclear type 14	AR
NDUFA12	614530	?MT complex I deficiency, nuclear type 23	AR
NDUFA2	602137	MT complex I deficiency, nuclear type 13	AR
NDUFA9	603834	MT complex I deficiency, nuclear type 26	AR
NDUFAF1	606934	MT complex I deficiency, nuclear type 11	AR
NDUFAF2	609653	MT complex I deficiency, nuclear type 10	AR
NDUFAF3	612911	MT complex I deficiency, nuclear type 18	AR
NDUFAF4	611776	MT complex I deficiency, nuclear type 15	AR
NDUFAF5	612360	MT complex I deficiency, nuclear type 16	AR
NDUFAF6	612392	MT complex I deficiency, nuclear type 17;Fanconi renotubular syndrome 5	AR
NDUFB3	603839	MT complex I deficiency, nuclear type 25	AR
NDUFS1	157655	MT complex I deficiency, nuclear type 5	AR
NDUFS2	602985	MT complex I deficiency, nuclear type 6	AR
NDUFS3	603846	MT complex I deficiency, nuclear type 8	AR
NDUFS4	602694	MT complex I deficiency, nuclear type 1	AR
NDUFS6	603848	MT complex I deficiency, nuclear type 9	AR
NDUFS7	601825	MT complex I deficiency, nuclear type 3	AR
NDUFS8	602141	MT complex I deficiency, nuclear type 2	AR
NDUFV1	161015	MT complex I deficiency, nuclear type 4	AR
NDUFV2	600532	MT complex I deficiency, nuclear type 7	AR
NECAP1	611623	Developmental and epileptic encephalopathy 21	AR
NEDD4L	606384	Periventricular nodular heterotopia 7	AD
NEU1	608272	Sialidosis, type I;Sialidosis, type II	AR
NEUROD2	601725	Developmental and epileptic encephalopathy 72	AD
NEXMIF	300524	Mental retardation, X-linked 98	XLD
NF1	613113	Watson syndrome;Leukemia, juvenile myelomonocytic;Neurofibromatosis, type 1;Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome	AD, AD, SM
NFE2L2	600492	Immunodeficiency, developmental delay, and hypohomocysteinemia	AD
NFU1	608100	Multiple MT dysfunctions syndrome 1	AR
NGLY1	610661	Congenital disorder of deglycosylation	AR
NHLRC1	608072	Epilepsy, progressive myoclonic 2B (Lafora)	AR
NOTCH1	190198	Adams-Oliver syndrome 5;Aortic valve disease 1	AD
NOTCH3	600276	?Myofibromatosis, infantile 2;Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1;Lateral meningocele syndrome	AD
NPC1	607623	Niemann-Pick disease, type C1;Niemann-Pick disease, type D	AR
NPC2	601015	Niemann-pick disease, type C2	AR
NPR2	108961	Acromesomelic dysplasia, Maroteaux type;Short stature with nonspecific skeletal abnormalities;Epiphyseal chondrodysplasia, Miura type	AR, AD
NPRL2	607072	Epilepsy, familial focal, with variable foci 2	AD
NPRL3	600928	Epilepsy, familial focal, with variable foci 3	AD
NRXN1	600565	Schizophrenia, susceptibility to, 17;Pitt-Hopkins-like syndrome 2	AR
NSD2	602952	Rauch-Steindl syndrome	AD
NUBPL	613621	MT complex I deficiency, nuclear type 21	AR
NUS1	610463	?Congenital disorder of glycosylation, type 1aa;Mental retardation, AD 55, with seizures	AR, AD
OAT	613349	Gyrate atrophy of choroid and retina with or without ornithinemia	AR
OCLN	602876	Pseudo-TORCH syndrome 1	AR
OCRL	300535	Lowe syndrome;Dent disease 2	XLR
OPA1	605290	Optic atrophy 1;?MT DNA depletion syndrome 14 (encephalocardiomyopathic type);Glaucoma, normal tension, susceptibility to;Optic atrophy plus syndrome;Behr syndrome	AD, AR
OPA3	606580	3-methylglutaconic aciduria, type III;Optic atrophy 3 with cataract	AR, AD
OSGEP	610107	Galloway-Mowat syndrome 3	AR
OTC	300461	Ornithine transcarbamylase deficiency	XL
OTUD6B	612021	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	AR
P4HTM	614584	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	AR
PACS2	610423	Developmental and epileptic encephalopathy 66	AD
PAFAH1B1	601545	Subcortical laminar heterotopia;Lissencephaly 1	AD
PAH	612349	Phenylketonuria;[Hyperphenylalaninemia, non-PKU mild]	AR
PAK1	602590	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	AD
PANK2	606157	HARP syndrome;Neurodegeneration with brain iron accumulation 1	AR
PARS2	612036	Developmental and epileptic encephalopathy 75	AR
PC	608786	Pyruvate carboxylase deficiency	AR
PCCA	232000	Propionicacidemia	AR
PCCB	232050	Propionicacidemia	AR
PCDH12	605622	Diencephalic-mesencephalic junction dysplasia syndrome 1	AR
PCDH19	300460	Developmental and epileptic encephalopathy 9	XL
PCYT2	602679	Spastic paraplegia 82, AR	AR
PDHA1	300502	Pyruvate dehydrogenase E1-alpha deficiency	XLD
PDHB	179060	Pyruvate dehydrogenase E1-beta deficiency	AR
PDHX	608769	Lacticacidemia due to PDX1 deficiency	AR
PDP1	605993	Pyruvate dehydrogenase phosphatase deficiency	AR
PDSS1	607429	Coenzyme Q10 deficiency, primary, 2	AR
PDSS2	610564	Coenzyme Q10 deficiency, primary, 3	AR
PDYN	131340	Spinocerebellar ataxia 23	AD
PET100	614770	MT complex IV deficiency, nuclear type 12	AR
PEX1	602136	Peroxisome biogenesis disorder 1A (Zellweger);Peroxisome biogenesis disorder 1B (NALD/IRD);Heimler syndrome 1	AR
PEX10	602859	Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B	AR
PEX11B	603867	Peroxisome biogenesis disorder 14B	AR
PEX12	601758	Peroxisome biogenesis disorder 3B;Peroxisome biogenesis disorder 3A (Zellweger)	AR
PEX13	601789	Peroxisome biogenesis disorder 11B;Peroxisome biogenesis disorder 11A (Zellweger)	AR
PEX14	601791	Peroxisome biogenesis disorder 13A (Zellweger)	AR
PEX16	603360	Peroxisome biogenesis disorder 8A (Zellweger);Peroxisome biogenesis disorder 8B	AR
PEX19	600279	Peroxisome biogenesis disorder 12A (Zellweger)	AR
PEX2	170993	Peroxisome biogenesis disorder 5B;Peroxisome biogenesis disorder 5A (Zellweger)	AR
PEX26	608666	Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B	AR
PEX3	603164	Peroxisome biogenesis disorder 10A (Zellweger);?Peroxisome biogenesis disorder 10B	AR
PEX5	600414	Rhizomelic chondrodysplasia punctata, type 5;Peroxisome biogenesis disorder 2B;Peroxisome biogenesis disorder 2A (Zellweger)	AR
PEX6	601498	Peroxisome biogenesis disorder 4B;Peroxisome biogenesis disorder 4A (Zellweger);Heimler syndrome 2	AD, AR, AR
PEX7	601757	Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata, type 1	AR
PGAP1	611655	Mental retardation, autosomal recessive 42	AR
PGK1	311800	Phosphoglycerate kinase 1 deficiency	XLR
PGM1	171900	Congenital disorder of glycosylation, type It	AR
PHACTR1	608723	Developmental and epileptic encephalopathy 70	AD
PHGDH	606879	Phosphoglycerate dehydrogenase deficiency;Neu-Laxova syndrome 1	AR
PHYH	602026	Refsum disease	AR
PIGA	311770	Paroxysmal nocturnal hemoglobinuria, somatic;Multiple congenital anomalies-hypotonia-seizures syndrome 2	XLR
PIGB	604122	Developmental and epileptic encephalopathy 80	AR
PIGH	600154	Glycosylphosphatidylinositol biosynthesis defect 17	AR
PIGO	614730	Hyperphosphatasia with mental retardation syndrome 2	AR
PIGP	605938	Developmental and epileptic encephalopathy 55	AR
PIGQ	605754	Developmental and epileptic encephalopathy 77	AR
PIGS	610271	Glycosylphosphatidylinositol biosynthesis defect 18	AR
PIGT	610272	Multiple congenital anomalies-hypotonia-seizures syndrome 3;?Paroxysmal nocturnal hemoglobinuria 2	AR, AD, SM
PIGU	608528	Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis	AR
PIGV	610274	Hyperphosphatasia with mental retardation syndrome 1	AR
PIGW	610275	Glycosylphosphatidylinositol biosynthesis defect 11	AR
PLA2G6	603604	Neurodegeneration with brain iron accumulation 2B;Parkinson disease 14, AR;Infantile neuroaxonal dystrophy 1	AR
PLAA	603873	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	AR
PLCB1	607120	Developmental and epileptic encephalopathy 12	AR
PLCG2	600220	Familial cold autoinflammatory syndrome 3;Autoinflammation, antibody deficiency, and immune dysregulation syndrome	AD
PLEKHG2	611893	Leukodystrophy and acquired microcephaly with or without dystonia	AR
PLK1	602098
PLP1	300401	Pelizaeus-Merzbacher disease;Spastic paraplegia 2, XL	XLR
PMM2	601785	Congenital disorder of glycosylation, type Ia	AR
PMP22	601097	Neuropathy, recurrent, with pressure palsies;Dejerine-Sottas disease;Roussy-Levy syndrome;?Neuropathy, inflammatory demyelinating;Charcot-Marie-Tooth disease, type 1E;Charcot-Marie-Tooth disease, type 1A	AD, AD, AR, ?AD
PMPCB	603131	Multiple MT dysfunctions syndrome 6	AR
PNKP	605610	Ataxia-oculomotor apraxia 4;Microcephaly, seizures, and developmental delay;?Charcot-Marie-Tooth disease, type 2B2	AR
PNPO	603287	Pyridoxamine 5'-phosphate oxidase deficiency	AR
PNPT1	610316	Deafness, autosomal recessive 70;Combined oxidative phosphorylation deficiency 13	AR
POLG	174763	Progressive external ophthalmoplegia, autosomal recessive 1;Progressive external ophthalmoplegia, AD 1;MT recessive ataxia syndrome (includes SANDO and SCAE);MT DNA depletion syndrome 4B (MNGIE type);MT DNA depletion syndrome 4A (Alpers type)	AR, AD
POLG2	604983	MT DNA depletion syndrome 16 (hepatic type);?MT DNA depletion syndrome 16B (neuroophthalmic type);Progressive external ophthalmoplegia with MT DNA deletions, AD 4	AR, AD
POLR1C	610060	Leukodystrophy, hypomyelinating, 11;Treacher Collins syndrome 3	AR
POLR3A	614258	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Wiedemann-Rautenstrauch syndrome	AR
POLR3B	614366	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism;Charcot-Marie-Tooth disease, demyelinating, type 1I	AR, AD
POMK	615247	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12;?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12	AR
POMT1	607423	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1	AR
PPP2CA	176915	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	AD
PPP2R1A	605983	Mental retardation, AD 36	AD
PPP3CA	114105	Epileptic encephalopathy, infantile or early childhood, 1;Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	AD
PPT1	600722	Ceroid lipofuscinosis, neuronal, 1	AR
PRF1	170280	Hemophagocytic lymphohistiocytosis, familial, 2;Lymphoma, non-Hodgkin;Aplastic anemia	AR
PRICKLE1	608500	Epilepsy, progressive myoclonic 1B	AR
PRICKLE2	608501
PRMT7	610087	Short stature, brachydactyly, intellectual developmental disability, and seizures	AR
PRODH	606810	Schizophrenia, susceptibility to, 4;Hyperprolinemia, type I	AD, AR
PRPS1	311850	Charcot-Marie-Tooth disease, XLR, 5;Deafness, X-linked 1;Phosphoribosylpyrophosphate synthetase superactivity;Arts syndrome;Gout, PRPS-related	XLR, XL
PRRT2	614386	Episodic kinesigenic dyskinesia 1;Convulsions, familial infantile, with paroxysmal choreoathetosis;Seizures, benign familial infantile, 2	AD
PSAP	176801	Combined SAP deficiency;Gaucher disease, atypical;Krabbe disease, atypical;Parkinson disease 24, AD, susceptibility to;Metachromatic leukodystrophy due to SAP-b deficiency	AR, AD
PSEN1	104311	Cardiomyopathy, dilated, 1U;Pick disease;Alzheimer disease, type 3;Alzheimer disease, type 3, with spastic paraparesis and apraxia;?Acne inversa, familial, 3;Dementia, frontotemporal;Alzheimer disease, type 3, with spastic paraparesis and unusual plaques	AD
PTEN	601728	Cowden syndrome 1;Lhermitte-Duclos syndrome;Macrocephaly/autism syndrome;Glioma susceptibility 2;Meningioma;Prostate cancer, somatic	AD
PTPN23	606584	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity	AR
PTS	612719	Hyperphenylalaninemia, BH4-deficient, A	AR
PUM1	607204	Spinocerebellar ataxia 47	AD
PURA	600473	Mental retardation, AD 31	AD
PYCR2	616406	Leukodystrophy, hypomyelinating, 10	AR
QARS1	603727	Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy	AR
QDPR	612676	Hyperphenylalaninemia, BH4-deficient, C	AR
RAB11A	605570
RAB11B	604198	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	AD
RAB27A	603868	Griscelli syndrome, type 2	AR
RAI1	607642	Smith-Magenis syndrome	AD, IC
RALA	179550	Hiatt-Neu-Cooper neurodevelopmental syndrome	AD
RALGAPA1	608884	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	AR
RARS1	107820	Leukodystrophy, hypomyelinating, 9	AR
RARS2	611524	Pontocerebellar hypoplasia, type 6	AR
RELN	600514	Lissencephaly 2 (Norman-Roberts type);Epilepsy, familial temporal lobe, 7	AR, AD
RFT1	611908	Congenital disorder of glycosylation, type In	AR
RHOBTB2	607352	Developmental and epileptic encephalopathy 64	AD
RMND1	614917	Combined oxidative phosphorylation deficiency 11	AR
RNASEH2A	606034	Aicardi-Goutieres syndrome 4	AR
RNASEH2B	610326	Aicardi-Goutieres syndrome 2	AR
RNASEH2C	610330	Aicardi-Goutieres syndrome 3	AR
RNASET2	612944	Leukoencephalopathy, cystic, without megalencephaly	AR
RNF113A	300951	Trichothiodystrophy 5, nonphotosensitive	XL
RNF13	609247	Developmental and epileptic encephalopathy 73	AD
RNF216	609948	Cerebellar ataxia and hypogonadotropic hypogonadism	AR
ROGDI	614574	Kohlschutter-Tonz syndrome	AR
RORA	600825	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	AD
RORB	601972	Epilepsy, idiopathic generalized, susceptibility to, 15	AD
RPIA	180430	Ribose 5-phosphate isomerase deficiency	AR
RRM2B	604712	MT DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy);Progressive external ophthalmoplegia with MT DNA deletions, AD 5;MT DNA depletion syndrome 8B (MNGIE type)	AR, AD
RTN4IP1	610502	Optic atrophy 10 with or without ataxia, mental retardation, and seizures	AR
SAMHD1	606754	?Chilblain lupus 2;Aicardi-Goutieres syndrome 5	AD, AR
SCARB2	602257	Epilepsy, progressive myoclonic 4, with or without renal failure	AR
SCN1A	182389	Epilepsy, generalized, with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3;Developmental and epileptic encephalopathy 6B, non-Dravet;Febrile seizures, familial, 3A;Dravet syndrome	AD
SCN1B	600235	Atrial fibrillation, familial, 13;Epilepsy, generalized, with febrile seizures plus, type 1;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Developmental and epileptic encephalopathy 52	AD, AR
SCN2A	182390	Developmental and epileptic encephalopathy 11;Seizures, benign familial infantile, 3;Episodic ataxia, type 9	AD
SCN3A	182391	Epilepsy, familial focal, with variable foci 4;Developmental and epileptic encephalopathy 62	AD
SCN8A	600702	?Myoclonus, familial, 2;Cognitive impairment with or without cerebellar ataxia;Developmental and epileptic encephalopathy 13;Seizures, benign familial infantile, 5	AD
SCN9A	603415	Erythermalgia, primary;Generalized epilepsy with febrile seizures plus, type 7;Febrile seizures, familial, 3B;Neuropathy, hereditary sensory and autonomic, type IID;Insensitivity to pain, congenital;Paroxysmal extreme pain disorder;Small fiber neuropathy	AD, AR
SCO1	603644	MT complex IV deficiency, nuclear type 4	AR
SCO2	604272	Myopia 6;MT complex IV deficiency, nuclear type 2	AD, AR
SDHA	600857	Neurodegeneration with ataxia and late-onset optic atrophy;Cardiomyopathy, dilated, 1GG;Leigh syndrome;MT respiratory chain complex II deficiency;Paragangliomas 5	AD, AR, AR, MT
SDHAF1	612848	MT complex II deficiency, nuclear type 2;MT complex II deficiency	AR
SDHB	185470	Pheochromocytoma;MT complex II deficiency, nuclear type 4;Paragangliomas 4;Paraganglioma and gastric stromal sarcoma;Gastrointestinal stromal tumor	AD, AR, AD, IC
SDHD	602690	MT complex II deficiency;Paraganglioma and gastric stromal sarcoma;Paragangliomas 1, with or without deafness;MT complex II deficiency, nuclear type 3;Pheochromocytoma	AR, AD
SEC23B	610512	Dyserythropoietic anemia, congenital, type II;?Cowden syndrome 7	AR, AD
SELENOI	607915	Spastic paraplegia 81, AR	AR
SEMA6B	608873	Epilepsy, progressive myoclonic, 11	AD
SEPSECS	613009	Pontocerebellar hypoplasia type 2D	AR
SERAC1	614725	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	AR
SERPINI1	602445	Encephalopathy, familial, with neuroserpin inclusion bodies	AD
SETD1A	611052	Neurodevelopmental disorder with speech impairment and dysmorphic facies;Epilepsy, early-onset, with or without developmental delay	AD
SGCE	604149	Dystonia-11, myoclonic	AD
SGSH	605270	Mucopolysaccharidosis type IIIA (Sanfilippo A)	AR
SIK1	605705	Developmental and epileptic encephalopathy 30	AD
SLC12A3	600968	Gitelman syndrome	AR
SLC12A5	606726	Epilepsy, idiopathic generalized, susceptibility to, 14;Developmental and epileptic encephalopathy 34	AD, AR
SLC13A3	606411	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate	AR
SLC13A5	608305	Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta	AR
SLC16A2	300095	Allan-Herndon-Dudley syndrome	XL
SLC17A5	604322	Sialic acid storage disorder, infantile;Salla disease	AR
SLC19A3	606152	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)	AR
SLC1A2	600300	Developmental and epileptic encephalopathy 41	AD
SLC1A4	600229	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	AR
SLC22A5	603377	Carnitine deficiency, systemic primary	AR
SLC25A1	190315	Myasthenic syndrome, congenital, 23, presynaptic;Combined D-2- and L-2-hydroxyglutaric aciduria	AR
SLC25A12	603667	Developmental and epileptic encephalopathy 39	AR
SLC25A13	603859	Citrullinemia, type II, neonatal-onset;Citrullinemia, adult-onset type II	AR
SLC25A15	603861	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	AR
SLC25A20	613698	Carnitine-acylcarnitine translocase deficiency	AR
SLC25A22	609302	Developmental and epileptic encephalopathy 3	AR
SLC25A3	600370	MT phosphate carrier deficiency	AR
SLC25A4	103220	MT DNA depletion syndrome 12B (cardiomyopathic type) AR;MT DNA depletion syndrome 12A (cardiomyopathic type) AD;Progressive external ophthalmoplegia with MT DNA deletions, AD 2	AR, AD
SLC2A1	138140	GLUT1 deficiency syndrome 2, childhood onset;GLUT1 deficiency syndrome 1, infantile onset, severe;Epilepsy, idiopathic generalized, susceptibility to, 12;Stomatin-deficient cryohydrocytosis with neurologic defects;Dystonia 9	AD, AD, AR
SLC33A1	603690	Congenital cataracts, hearing loss, and neurodegeneration;Spastic paraplegia 42, AD	AR, AD
SLC35A1	605634	Congenital disorder of glycosylation, type IIf	AR
SLC35A2	314375	Congenital disorder of glycosylation, type IIm	SM, XLD
SLC35C1<