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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NGS Panels Neurology – Product Sheet

A targeted approach for testing neurological disorders

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Ataxia / Spastic paraplegia panel

Our Ataxia / Spastic paraplegia panel includes genes relevant to hereditary neurological disorders characterized by ataxia and spastic paraplegia, 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. Traditionally, ataxias and spastic paraplegia have been classified into separate categories. However, recent information shows that these diseases share genes, pathways and mechanisms and therefore our panel covers both syndromes and involves ataxia-spasticity disease spectrum. Our Ataxia / Spastic paraplegia panel is not only the best option for patients displaying gait imbalance and uncoordinated walking, but also for patients displaying spastic gait impairment, spastic weakness, and hyperreflexia or any of the combinations.

The most common forms of inherited ataxia are caused by repeat expansion mutations, therefore the compre-hensive version of our panel includes repeat expansion analysis.

No. of genes:	482
TAT:	25 days
Coverage:	≥99.00% ≥20x
Details:	NGS including CNV analysis

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
AARS2	612035	Combined oxidative phosphorylation deficiency 8	AR
AARS2	612035	Leukoencephalopathy, progressive, with ovarian failure	AR
ABCB7	300135	Anemia, sideroblastic, with ataxia	XLR
ABCD1	300371	Adrenoleukodystrophy	XLR
ABCD1	300371	Adrenomyeloneuropathy, adult	XLR
ABHD12	613599	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	AR
ABHD5	604780	Chanarin-Dorfman syndrome	AR
ACAD9	611103	Mitochondrial complex I deficiency, nuclear type 20	AR
ACADVL	609575	VLCAD deficiency	AR
ACO2	100850	?Optic atrophy 9	AR
ACO2	100850	Infantile cerebellar-retinal degeneration	AR
ADAR	146920	Aicardi-Goutieres syndrome 6	AR
ADAR	146920	Dyschromatosis symmetrica hereditaria	AD
ADPRS	610624	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	AR
AFG3L2	604581	Spinocerebellar ataxia 28	AD
		Spastic ataxia 5, autosomal recessive	AR
		Optic atrophy 12	AD
AGK	610345	Sengers syndrome	AR
AGK	610345	Cataract 38, autosomal recessive	AR
AGTPBP1	606830	Neurodegeneration, childhood-onset, with cerebellar atrophy	AR
AHI1	608894	Joubert syndrome 3	AR
AIFM1	300169	Cowchock syndrome	XLR
		Combined oxidative phosphorylation deficiency 6	XLR
		Deafness, X-linked 5	XLR
		Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy	XLR
AIMP1	603605	Leukodystrophy, hypomyelinating, 3	AR
ALAS2	301300	Protoporphyria, erythropoietic, X-linked	XL
ALAS2	301300	Anemia, sideroblastic, 1	XLR
ALDH18A1	138250	Cutis laxa, autosomal dominant 3	AD
		Cutis laxa, autosomal recessive, type IIIA	AR
		Spastic paraplegia 9B, autosomal recessive	AR
		Spastic paraplegia 9A, autosomal dominant	AD
ALDH5A1	610045	Succinic semialdehyde dehydrogenase deficiency	AR
ALS2	606352	Amyotrophic lateral sclerosis 2, juvenile	AR
		Spastic paralysis, infantile onset ascending	AR
		Primary lateral sclerosis, juvenile	AR
AMACR	604489	Bile acid synthesis defect, congenital, 4	AR
AMACR	604489	Alpha-methylacyl-CoA racemase deficiency	AR
AMPD2	102771	?Spastic paraplegia 63	AR
AMPD2	102771	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, autosomal recessive	AR
AP4E1	607244	Stuttering, familial persistent, 1	AD
AP4E1	607244	Spastic paraplegia 51, autosomal recessive	AR
AP4M1	602296	Spastic paraplegia 50, autosomal recessive	AR
AP4S1	607243	Spastic paraplegia 52, autosomal recessive	AR
AP5Z1	613653	Spastic paraplegia 48, autosomal recessive	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	AR
		Bardet-Biedl syndrome 1, modifier of	AR, DR
		Bardet-Biedl syndrome 3	AR
ARL6IP1	607669	?Spastic paraplegia 61, autosomal recessive	AR
ARSA	607574	Metachromatic leukodystrophy	AR
ATCAY	608179	Ataxia, cerebellar, Cayman type	AR
ATL1	606439	Spastic paraplegia 3A, autosomal dominant	AD
ATL1	606439	Neuropathy, hereditary sensory, type ID	AD
ATM	607585	Breast cancer, susceptibility to	AD, SM
ATM	607585	Ataxia-telangiectasia	AR
ATP13A2	610513	Spastic paraplegia 78, autosomal recessive	AR
ATP13A2	610513	Kufor-Rakeb syndrome	AR
ATP1A2	182340	Developmental and epileptic encephalopathy 98	AD
		Alternating hemiplegia of childhood 1	AD
		Migraine, familial basilar	AD
		Migraine, familial hemiplegic, 2	AD
		Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	AR
ATP1A3	182350	Alternating hemiplegia of childhood 2	AD
		Dystonia-12	AD
		Developmental and epileptic encephalopathy 99	AD
		CAPOS syndrome	AD
ATP2B3	300014	?Spinocerebellar ataxia, X-linked 1	XLR
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	XLR
		Alpha-thalassemia/mental retardation syndrome	XLD
		Alpha-thalassemia myelodysplasia syndrome, somatic	-
AUH	600529	3-methylglutaconic aciduria, type I	AR
B4GALNT1	601873	Spastic paraplegia 26, autosomal recessive	AR
B9D1	614144	?Meckel syndrome 9	AR
B9D1	614144	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	AR
BBS2	606151	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	AR
		Bjornstad syndrome	AR
		Mitochondrial complex III deficiency, nuclear type 1	AR
BICD2	609797	Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant	AD
BICD2	609797	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	AD
BOLA3	613183	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	AR
BSCL2	606158	Lipodystrophy, congenital generalized, type 2	AR
		Encephalopathy, progressive, with or without lipodystrophy	AR
		Silver spastic paraplegia syndrome	AD
		Neuropathy, distal hereditary motor, type VC	AD
BTD	609019	Biotinidase deficiency	AR
C19orf12	614297	Neurodegeneration with brain iron accumulation 4	AD, AR
C19orf12	614297	?Spastic paraplegia 43, autosomal recessive	AR
CA8	114815	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3	AR
CACNA1A	601011	Episodic ataxia, type 2	AD
		Migraine, familial hemiplegic, 1	AD
		Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia	AD
		Spinocerebellar ataxia 6	AD
		Developemental and epileptic encephalopathy 42	AD
CACNA1G	604065	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	AD
CACNA1G	604065	Spinocerebellar ataxia 42	AD
CACNB4	601949	Epilepsy, juvenile myoclonic, susceptibility to, 6	AD
		Epilepsy, idiopathic generalized, susceptibility to, 9	AD
		Episodic ataxia, type 5	AD
CAMTA1	611501	Cerebellar ataxia, nonprogressive, with mental retardation	AD
CAPN1	114220	Spastic paraplegia 76, autosomal recessive	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	XLD
		FG syndrome 4	-
CC2D2A	612013	Meckel syndrome 6	AR
		Retinitis pigmentosa 93	AR
		Joubert syndrome 9	AR
		COACH syndrome 2	AR
CCDC88C	611204	Hydrocephalus, congenital, 1	AR
CCDC88C	611204	?Spinocerebellar ataxia 40	AD
CCT5	610150	Neuropathy, hereditary sensory, with spastic paraplegia	AR
CEP290	610142	Leber congenital amaurosis 10	-
		Meckel syndrome 4	AR
		?Bardet-Biedl syndrome 14	AR
		Senior-Loken syndrome 6	AR
		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	AD
		Hyperaldosteronism, familial, type II	AD
		Epilepsy, juvenile myoclonic, susceptibility to, 8	AD
		Epilepsy, idiopathic generalized, susceptibility to, 11	AD
		Leukoencephalopathy with ataxia	AR
CLN5	608102	Ceroid lipofuscinosis, neuronal, 5	AR
CLN6	606725	Ceroid lipofuscinosis, neuronal, Kufs type, adult onset	AR
CLN6	606725	Ceroid lipofuscinosis, neuronal, 6	AR
CLPB	616254	3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia	AR
		3-methylglutaconic aciduria, type VIIA, autosomal dominant	AD
		Neutropenia, severe congenital, 9, autosomal dominant	AD
CLPP	601119	Perrault syndrome 3	AR
COA6	614772	Mitochondrial complex IV deficiency, nuclear type 13	AR
COA7	615623	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	AR
COA8	616003	Mitochondrial complex IV deficiency, nuclear type 17	AR
COASY	609855	Neurodegeneration with brain iron accumulation 6	AR
COASY	609855	Pontocerebellar hypoplasia, type 12	AR
COL4A1	120130	?Retinal arteries, tortuosity of	AD
		Hemorrhage, intracerebral, susceptibility to	-
		Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	AD
		Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	AD
		Brain small vessel disease with or without ocular anomalies	AD
COL4A2	120090	Hemorrhage, intracerebral, susceptibility to	-
COL4A2	120090	Brain small vessel disease 2	AD
COQ2	609825	Coenzyme Q10 deficiency, primary, 1	AR
COQ2	609825	Multiple system atrophy, susceptibility to	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	Mitochondrial complex IV deficiency, nuclear type 3	AR
COX15	603646	Mitochondrial complex IV deficiency, nuclear type 6	AR
COX20	614698	Mitochondrial complex IV deficiency, nuclear type 11	AR
COX6A1	602072	Charcot-Marie-Tooth disease, recessive intermediate D	AR
COX6B1	124089	Mitochondrial complex IV deficiency, nuclear type 7	AR
CP	117700	Cerebellar ataxia	AR
		Hemosiderosis, systemic, due to aceruloplasminemia	AR
		[Hypoceruloplasminemia, hereditary]	AR
CPLANE1	614571	Orofaciodigital syndrome VI	AR
CPLANE1	614571	Joubert syndrome 17	AR
CPT1C	608846	?Spastic paraplegia 73, autosomal dominant	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	Mitochondrial complex III deficiency, nuclear type 6	AR
CYP27A1	606530	Cerebrotendinous xanthomatosis	AR
CYP2U1	610670	Spastic paraplegia 56, autosomal recessive	AR
CYP7B1	603711	Spastic paraplegia 5A, autosomal recessive	AR
CYP7B1	603711	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, autosomal recessive	AR
DDHD2	615003	Spastic paraplegia 54, autosomal recessive	AR
DGUOK	601465	Portal hypertension, noncirrhotic	AR
		Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	AR
		Mitochondrial 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	AR
DNA2	601810	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	AD
DNAJC19	608977	3-methylglutaconic aciduria, type V	AR
DNAJC5	611203	Ceroid lipofuscinosis, neuronal, 4, Parry type	AD
DNM1L	603850	Optic atrophy 5	AD
DNM1L	603850	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	AD, AR
DNMT1	126375	Neuropathy, hereditary sensory, type IE	AD
DNMT1	126375	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	AD
DOCK3	603123	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	AR
DSTYK	612666	Spastic paraplegia 23	AR
DSTYK	612666	Congenital anomalies of kidney and urinary tract 1	AD
EARS2	612799	Combined oxidative phosphorylation deficiency 12	AR
EBF3	607407	Hypotonia, ataxia, and delayed development syndrome	AD
ECHS1	602292	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency	AR
EIF2B1	606686	Leukoencephalopathy with vanishing white matter	AR
EIF2B2	606454	Ovarioleukodystrophy	AR
EIF2B2	606454	Leukoencephalopathy with vanishing white matter	AR
EIF2B3	606273	Leukoencephalopathy with vanishing white matter	AR
EIF2B4	606687	Ovarioleukodystrophy	AR
EIF2B4	606687	Leukoencephalopathy with vanishing white matter	AR
EIF2B5	603945	Ovarioleukodystrophy	AR
EIF2B5	603945	Leukoencephalopathy with vanishing white matter	AR
ELAC2	605367	Prostate cancer, hereditary, 2, susceptibility to	-
ELAC2	605367	Combined oxidative phosphorylation deficiency 17	AR
ELOVL4	605512	Ichthyosis, spastic quadriplegia, and mental retardation	AR
		Stargardt disease 3	AD
		Spinocerebellar ataxia 34	AD
ELOVL5	611805	Spinocerebellar ataxia 38	AD
ENTPD1	601752	Spastic paraplegia 64, autosomal recessive	AR
ERLIN1	611604	Spastic paraplegia 62	AR
ERLIN2	611605	Spastic paraplegia 18, autosomal recessive	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, autosomal recessive	AR
FARS2	611592	Combined oxidative phosphorylation deficiency 14	AR
FARS2	611592	Spastic paraplegia 77, autosomal recessive	AR
FASTKD2	612322	Combined oxidative phosphorylation deficiency 44	AR
FAT2	604269	Spinocerebellar ataxia 45	AD
FBXL4	605654	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	AR
FDX2	614585	Mitochondrial 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	AR
FH	136850	Leiomyomatosis and renal cell cancer	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	Mitochondrial complex I deficiency, nuclear type 19	AR
FTL	134790	Neurodegeneration with brain iron accumulation 3	AD
		Hyperferritinemia-cataract syndrome	AD
		L-ferritin deficiency, dominant and recessive	AD, AR
FXN	606829	Friedreich ataxia	AR
FXN	606829	Friedreich ataxia with retained reflexes	AR
GAD1	605363	?Cerebral palsy, spastic quadriplegic, 1	AR
GAD1	605363	Developmental and epileptic encephalopathy 89	AR
GALC	606890	Krabbe disease	AR
GARS1	600287	Spinal muscular atrophy, infantile, James type	AD
		Charcot-Marie-Tooth disease, type 2D	AD
		Neuronopathy, distal hereditary motor, type VA	AD
GBA	606463	Lewy body dementia, susceptibility to	AD
		Gaucher disease, type IIIC	AR
		Parkinson disease, late-onset, susceptibility to	AD, MF
		Gaucher disease, type II	AR
		Gaucher disease, type III	AR
		Gaucher disease, perinatal lethal	AR
		Gaucher disease, type I	AR
GBA2	609471	Spastic paraplegia 46, autosomal recessive	AR
GCDH	608801	Glutaricaciduria, type I	AR
GCH1	600225	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia	AD, AR
GCH1	600225	Hyperphenylalaninemia, BH4-deficient, B	AR
GFAP	137780	Alexander disease	AD
GFER	600924	Myopathy, mitochondrial 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, X-linked dominant, 1	XLD
GJC2	608803	Leukodystrophy, hypomyelinating, 2	AR
		Spastic paraplegia 44, autosomal recessive	AR
		Lymphatic malformation 3	AD
GLRX5	609588	Spasticity, childhood-onset, with hyperglycinemia	AR
GLRX5	609588	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	AD
GRM1	604473	Spinocerebellar ataxia, autosomal recessive 13	AR
GSS	601002	Glutathione synthetase deficiency	AR
GSS	601002	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	AD
HEPACAM	611642	Megalencephalic leukoencephalopathy with subcortical cysts 2A	AR
HEXA	606869	Tay-Sachs disease	AR
		[Hex A pseudodeficiency]	AR
		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	AR
HSPD1	118190	Spastic paraplegia 13, autosomal dominant	AD
HTRA2	606441	Parkinson disease 13	-
HTRA2	606441	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, autosomal recessive	AR
IBA57	615316	Multiple mitochondrial dysfunctions syndrome 3	AR
INPP5E	613037	Mental retardation, truncal obesity, retinal dystrophy, and micropenis	AR
INPP5E	613037	Joubert syndrome 1	AR
IRF2BPL	611720	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	AD
ISCA2	615317	Multiple mitochondrial dysfunctions syndrome 4	AR
ISCU	611911	Myopathy with lactic acidosis, hereditary	AR
ITM2B	603904	Dementia, familial British	AD
		?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities	AD
		Dementia, familial Danish	AD
ITPR1	147265	Spinocerebellar ataxia 15	AD
		Spinocerebellar ataxia 29, congenital nonprogressive	AD
		Gillespie syndrome	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	AD
KCND3	605411	Spinocerebellar ataxia 19	AD
KCNJ10	602208	Enlarged vestibular aqueduct, digenic	AR
KCNJ10	602208	SESAME syndrome	AR
KDM5C	314690	Mental retardation, X-linked, syndromic, Claes-Jensen type	XLR
KIDINS220	615759	Ventriculomegaly and arthrogryposis	AR
KIDINS220	615759	Spastic paraplegia, intellectual disability, nystagmus, and obesity	AD
KIF1A	601255	NESCAV syndrome	AD
		Spastic paraplegia 30, autosomal recessive	AD, AR
		Neuropathy, hereditary sensory, type IIC	AR
		Spastic paraplegia 30, autosomal dominant	AD, AR
KIF1C	603060	Spastic ataxia 2, autosomal recessive	AR
KIF5A	602821	Amyotrophic lateral sclerosis, susceptibility to, 25	AD
		Myoclonus, intractable, neonatal	AD
		Spastic paraplegia 10, autosomal dominant	AD
KIF7	611254	Joubert syndrome 12	AR
		?Hydrolethalus syndrome 2	AR
		?Al-Gazali-Bakalinova syndrome	AR
		Acrocallosal syndrome	AR
L1CAM	308840	Hydrocephalus with congenital idiopathic intestinal pseudoobstruction	XLR
		CRASH syndrome	XLR
		Corpus callosum, partial agenesis of	XLR
		Hydrocephalus with Hirschsprung disease	XLR
		MASA syndrome	XLR
		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	AR
LARS2	604544	Perrault syndrome 4	AR
LIAS	607031	Hyperglycinemia, lactic acidosis, and seizures	AR
LIPT1	610284	Lipoyltransferase 1 deficiency	AR
LMNB1	150340	Leukodystrophy, adult-onset, autosomal dominant	AD
LMNB1	150340	Microcephaly 26, primary, autosomal dominant	AD
LRPPRC	607544	Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)	AR
LYRM7	615831	Mitochondrial complex III deficiency, nuclear type 8	AR
LYST	606897	Chediak-Higashi syndrome	AR
MAG	159460	Spastic paraplegia 75, autosomal recessive	AR
MARS1	156560	Charcot-Marie-Tooth disease, axonal, type 2U	AD
		?Trichothiodystrophy 9, nonphotosensitive	AR
		Interstitial lung and liver disease	AR
MARS2	609728	Spastic ataxia 3, autosomal recessive	AR
MARS2	609728	?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 mitochondrial and peroxisomal fission 2	AR
MFN2	608507	Hereditary motor and sensory neuropathy VIA	AD
		Charcot-Marie-Tooth disease, axonal, type 2A2B	AR
		Charcot-Marie-Tooth disease, axonal, type 2A2A	AD
MGME1	615076	Mitochondrial DNA depletion syndrome 11	AR
MICU1	605084	Myopathy with extrapyramidal signs	AR
MKKS	604896	McKusick-Kaufman syndrome	AR
MKKS	604896	Bardet-Biedl syndrome 6	AR
MKS1	609883	Bardet-Biedl syndrome 13	AR
		Joubert syndrome 28	AR
		Meckel syndrome 1	AR
MLC1	605908	Megalencephalic leukoencephalopathy with subcortical cysts	AR
MPC1	614738	Mitochondrial pyruvate carrier deficiency	AR
MPV17	137960	Charcot-Marie-Tooth disease, axonal, type 2EE	AR
MPV17	137960	Mitochondrial 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	AR
MRPS22	605810	Combined oxidative phosphorylation deficiency 5	AR
MSTO1	617619	Myopathy, mitochondrial, and ataxia	AD, AR
MTFMT	611766	Combined oxidative phosphorylation deficiency 15	AR
MTFMT	611766	Mitochondrial complex I deficiency, nuclear type 27	AR
MTO1	614667	Combined oxidative phosphorylation deficiency 10	AR
MTPAP	613669	?Spastic ataxia 4, autosomal recessive	AR
MTRFR	613541	Spastic paraplegia 55, autosomal recessive	AR
MTRFR	613541	Combined oxidative phosphorylation deficiency 7	AR
MTTP	157147	Metabolic syndrome, protection against	AD
MTTP	157147	Abetalipoproteinemia	AR
NARS2	612803	?Deafness, autosomal recessive 94	AR
NARS2	612803	Combined oxidative phosphorylation deficiency 24	AR
NDUFA1	300078	Mitochondrial complex I deficiency, nuclear type 12	XLR
NDUFA10	603835	Mitochondrial complex I deficiency, nuclear type 22	AR
NDUFA11	612638	Mitochondrial complex I deficiency, nuclear type 14	AR
NDUFA12	614530	?Mitochondrial complex I deficiency, nuclear type 23	AR
NDUFA2	602137	Mitochondrial complex I deficiency, nuclear type 13	AR
NDUFA9	603834	Mitochondrial complex I deficiency, nuclear type 26	AR
NDUFAF1	606934	Mitochondrial complex I deficiency, nuclear type 11	AR
NDUFAF2	609653	Mitochondrial complex I deficiency, nuclear type 10	AR
NDUFAF3	612911	Mitochondrial complex I deficiency, nuclear type 18	AR
NDUFAF4	611776	Mitochondrial complex I deficiency, nuclear type 15	AR
NDUFAF5	612360	Mitochondrial complex I deficiency, nuclear type 16	AR
NDUFAF6	612392	Mitochondrial complex I deficiency, nuclear type 17	AR
NDUFAF6	612392	Fanconi renotubular syndrome 5	AR
NDUFB3	603839	Mitochondrial complex I deficiency, nuclear type 25	AR
NDUFS1	157655	Mitochondrial complex I deficiency, nuclear type 5	AR
NDUFS2	602985	Mitochondrial complex I deficiency, nuclear type 6	AR
NDUFS3	603846	Mitochondrial complex I deficiency, nuclear type 8	AR
NDUFS4	602694	Mitochondrial complex I deficiency, nuclear type 1	AR
NDUFS6	603848	Mitochondrial complex I deficiency, nuclear type 9	AR
NDUFS7	601825	Mitochondrial complex I deficiency, nuclear type 3	AR
NDUFS8	602141	Mitochondrial complex I deficiency, nuclear type 2	AR
NDUFV1	161015	Mitochondrial complex I deficiency, nuclear type 4	AR
NDUFV2	600532	Mitochondrial complex I deficiency, nuclear type 7	AR
NFU1	608100	Multiple mitochondrial dysfunctions syndrome 1	AR
NIPA1	608145	Spastic paraplegia 6, autosomal dominant	AD
NKX6-2	605955	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	AR
NPC1	607623	Niemann-Pick disease, type C1	AR
NPC1	607623	Niemann-Pick disease, type D	AR
NPC2	601015	Niemann-pick disease, type C2	AR
NPHP1	607100	Joubert syndrome 4	AR
		Nephronophthisis 1, juvenile	AR
		Senior-Loken syndrome-1	AR
NR2F1	132890	Bosch-Boonstra-Schaaf optic atrophy syndrome	AD
NT5C2	600417	Spastic paraplegia 45, autosomal recessive	AR
NUBPL	613621	Mitochondrial complex I deficiency, nuclear type 21	AR
OFD1	300170	Joubert syndrome 10	XLR
		Simpson-Golabi-Behmel syndrome, type 2	XLR
		?Retinitis pigmentosa 23	XLR
		Orofaciodigital syndrome I	XLD
OPA1	605290	Optic atrophy 1	AD
		?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)	AR
		Glaucoma, normal tension, susceptibility to	-
		Optic atrophy plus syndrome	AD
		Behr syndrome	AR
OPA3	606580	3-methylglutaconic aciduria, type III	AR
OPA3	606580	Optic atrophy 3 with cataract	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	AR
PANK2	606157	Neurodegeneration with brain iron accumulation 1	AR
PARS2	612036	Developmental and epileptic encephalopathy 75	AR
PAX6	607108	?Coloboma, ocular	AD
		Aniridia	AD
		?Morning glory disc anomaly	AD
		Keratitis	AD
		Optic nerve hypoplasia	AD
		?Coloboma of optic nerve	AD
		Anterior segment dysgenesis 5, multiple subtypes	AD
		Cataract with late-onset corneal dystrophy	AD
		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	Mitochondrial complex IV deficiency, nuclear type 12	AR
PEX10	602859	Peroxisome biogenesis disorder 6A (Zellweger)	AR
PEX10	602859	Peroxisome biogenesis disorder 6B	AR
PEX2	170993	Peroxisome biogenesis disorder 5B	AR
PEX2	170993	Peroxisome biogenesis disorder 5A (Zellweger)	AR
PEX7	601757	Peroxisome biogenesis disorder 9B	AR
PEX7	601757	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	AR
		Parkinson disease 14, autosomal recessive	AR
		Infantile neuroaxonal dystrophy 1	AR
PLP1	300401	Pelizaeus-Merzbacher disease	XLR
PLP1	300401	Spastic paraplegia 2, X-linked	XLR
PMPCA	613036	Spinocerebellar ataxia, autosomal recessive 2	AR
PNKD	609023	Paroxysmal nonkinesigenic dyskinesia 1	AD
PNKP	605610	Ataxia-oculomotor apraxia 4	AR
		Microcephaly, seizures, and developmental delay	AR
		?Charcot-Marie-Tooth disease, type 2B2	AR
PNPLA6	603197	Spastic paraplegia 39, autosomal recessive	AR
		Boucher-Neuhauser syndrome	AR
		Oliver-McFarlane syndrome	AR
		?Laurence-Moon syndrome	AR
PNPT1	610316	Deafness, autosomal recessive 70	AR
		Combined oxidative phosphorylation deficiency 13	AR
		Spinocerebellar ataxia 25	-
POLG	174763	Progressive external ophthalmoplegia, autosomal recessive 1	AR
		Progressive external ophthalmoplegia, autosomal dominant 1	AD
		Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)	AR
		Mitochondrial DNA depletion syndrome 4B (MNGIE type)	AR
		Mitochondrial DNA depletion syndrome 4A (Alpers type)	AR
POLG2	604983	Mitochondrial DNA depletion syndrome 16 (hepatic type)	AR
		?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)	AR
		Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	AD
POLR3A	614258	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism	AR
POLR3A	614258	Wiedemann-Rautenstrauch syndrome	AR
POLR3B	614366	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	AR
POLR3B	614366	Charcot-Marie-Tooth disease, demyelinating, type 1I	AD
PRICKLE1	608500	Epilepsy, progressive myoclonic 1B	AR
PRKCG	176980	Spinocerebellar ataxia 14	AD
PRRT2	614386	Episodic kinesigenic dyskinesia 1	AD
		Convulsions, familial infantile, with paroxysmal choreoathetosis	AD
		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	AR
RAB3GAP2	609275	Martsolf syndrome	AR
RARS1	107820	Leukodystrophy, hypomyelinating, 9	AR
RARS2	611524	Pontocerebellar hypoplasia, type 6	AR
REEP1	609139	Spastic paraplegia 31, autosomal dominant	AD
REEP1	609139	?Neuronopathy, distal hereditary motor, type VB	AD
REEP2	609347	?Spastic paraplegia 72, autosomal recessive	AD, AR
REEP2	609347	?Spastic paraplegia 72, autosomal dominant	AD, AR
RMND1	614917	Combined oxidative phosphorylation deficiency 11	AR
RNASEH1	604123	Progressive external ophthalmoplegia with mitochondrial 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	AR
		?COACH syndrome 3	AR
		Meckel syndrome 5	AR
RRM2B	604712	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	AR
		Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	AD
		Mitochondrial DNA depletion syndrome 8B (MNGIE type)	AR
		Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction	AR
RTN2	603183	Spastic paraplegia 12, autosomal dominant	AD
RUBCN	613516	Spinocerebellar ataxia, autosomal recessive 15	AR
SACS	604490	Spastic ataxia, Charlevoix-Saguenay type	AR
SAMD9L	611170	Ataxia-pancytopenia syndrome	AD
		Monosomy 7 myelodysplasia and leukemia syndrome 1	AD
		Spinocerebellar ataxia 49	AD
SARS2	612804	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis	AR
SCN1A	182389	Epilepsy, generalized, with febrile seizures plus, type 2	AD
		Migraine, familial hemiplegic, 3	AD
		Developmental and epileptic encephalopathy 6B, non-Dravet	AD
		Febrile seizures, familial, 3A	AD
		Dravet syndrome	AD
SCN2A	182390	Developmental and epileptic encephalopathy 11	AD
		Seizures, benign familial infantile, 3	AD
		Episodic ataxia, type 9	AD
SCO1	603644	Mitochondrial complex IV deficiency, nuclear type 4	AR
SCO2	604272	Myopia 6	AD
SCO2	604272	Mitochondrial complex IV deficiency, nuclear type 2	AR
SCYL1	607982	Spinocerebellar ataxia, autosomal recessive 21	AR
SDHA	600857	Neurodegeneration with ataxia and late-onset optic atrophy	AD
		Cardiomyopathy, dilated, 1GG	AR
		Leigh syndrome	AR, Mitochondrial
		Mitochondrial respiratory chain complex II deficiency	AR
		Paragangliomas 5	AD
SDHAF1	612848	Mitochondrial complex II deficiency, nuclear type 2	AR
SDHAF1	612848	Mitochondrial complex II deficiency	AR
SELENOI	607915	Spastic paraplegia 81, autosomal recessive	AR
SERAC1	614725	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	AR
SETX	608465	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	AR
SETX	608465	Amyotrophic lateral sclerosis 4, juvenile	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	AR
SLC17A5	604322	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)	AR
SLC25A19	606521	Microcephaly, Amish type	AR
SLC25A26	611037	Combined oxidative phosphorylation deficiency 28	AR
SLC25A3	600370	Mitochondrial phosphate carrier deficiency	AR
SLC25A38	610819	Anemia, sideroblastic, 2, pyridoxine-refractory	AR
SLC25A4	103220	Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR	AR
		Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD	AD
		Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	AD
SLC25A46	610826	Neuropathy, hereditary motor and sensory, type VIB	AR
SLC25A46	610826	Pontocerebellar hypoplasia, type 1E	AR
SLC2A1	138140	GLUT1 deficiency syndrome 2, childhood onset	AD
		GLUT1 deficiency syndrome 1, infantile onset, severe	AD, AR
		Epilepsy, idiopathic generalized, susceptibility to, 12	AD
		Stomatin-deficient cryohydrocytosis with neurologic defects	AD
		Dystonia 9	AD
SLC33A1	603690	Congenital cataracts, hearing loss, and neurodegeneration	AR
SLC33A1	603690	Spastic paraplegia 42, autosomal dominant	AD
SLC52A2	607882	Brown-Vialetto-Van Laere syndrome 2	AR
SLC52A3	613350	?Fazio-Londe disease	AR
SLC52A3	613350	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, autosomal dominant	AD
SPG11	610844	Spastic paraplegia 11, autosomal recessive	AR
		Amyotrophic lateral sclerosis 5, juvenile	AR
		Charcot-Marie-Tooth disease, axonal, type 2X	AR
SPG21	608181	Mast syndrome	AR
SPG7	602783	Spastic paraplegia 7, autosomal recessive	AD, AR
SPR	182125	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	?AD, AR
SPTBN2	604985	Spinocerebellar ataxia, autosomal recessive 14	AR
SPTBN2	604985	Spinocerebellar ataxia 5	AD
STUB1	607207	?Spinocerebellar ataxia 48	AD
STUB1	607207	Spinocerebellar ataxia, autosomal recessive 16	AR
SUCLA2	603921	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	AR
SUCLG1	611224	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)	AR
SURF1	185620	Charcot-Marie-Tooth disease, type 4K	AR
SURF1	185620	Mitochondrial complex IV deficiency, nuclear type 1	AR
SYNE1	608441	Arthrogryposis multiplex congenita 3, myogenic type	AR
		Emery-Dreifuss muscular dystrophy 4, autosomal dominant	AD
		Spinocerebellar ataxia, autosomal recessive 8	AR
TACO1	612958	Mitochondrial complex IV deficiency, nuclear type 8	AR
TARS2	612805	?Combined oxidative phosphorylation deficiency 21	AR
TBC1D24	613577	Deafness, autosomal dominant 65	AD
		Deafness, autosomal recessive 86	AR
		Myoclonic epilepsy, infantile, familial	AR
		Developmental and epileptic encephalopathy 16	AR
		DOORS syndrome	AR
		Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp	AR
TCTN1	609863	Joubert syndrome 13	AR
TCTN2	613846	?Meckel syndrome 8	AR
TCTN2	613846	Joubert syndrome 24	AR
TCTN3	613847	Joubert syndrome 18	AR
TCTN3	613847	Orofaciodigital syndrome IV	AR
TDP1	607198	?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	AR
TECPR2	615000	Spastic paraplegia 49, autosomal recessive	AR
TFG	602498	Hereditary motor and sensory neuropathy, Okinawa type	AD
TFG	602498	?Spastic paraplegia 57, autosomal recessive	AR
TGM6	613900	Spinocerebellar ataxia 35	AD
TIMM8A	300356	Mohr-Tranebjaerg syndrome	XLR
TK2	188250	Mitochondrial DNA depletion syndrome 2 (myopathic type)	AR
TK2	188250	?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	AR
TMEM126B	615533	Mitochondrial complex I deficiency, nuclear type 29	AR
TMEM138	614459	Joubert syndrome 16	AR
TMEM216	613277	Meckel syndrome 2	AR
TMEM216	613277	Joubert syndrome 2	AR
TMEM231	614949	Joubert syndrome 20	AR
TMEM231	614949	Meckel syndrome 11	AR
TMEM237	614423	Joubert syndrome 14	AR
TMEM240	616101	Spinocerebellar ataxia 21	AD
TMEM67	609884	COACH syndrome 1	AR
		?RHYNS syndrome	AR
		Meckel syndrome 3	AR
		Joubert syndrome 6	AR
		Bardet-Biedl syndrome 14, modifier of	AR
		Nephronophthisis 11	AR
TMEM70	612418	Mitochondrial 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	AR
TPP1	607998	Spinocerebellar ataxia, autosomal recessive 7	AR
TRIM32	602290	Muscular dystrophy, limb-girdle, autosomal recessive 8	AR
TRIM32	602290	?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	AR
TRNT1	612907	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	AR
		?Pontocerebellar hypoplasia type 5	AR
		Pontocerebellar hypoplasia type 4	AR
TSFM	604723	Combined oxidative phosphorylation deficiency 3	AR
TTBK2	611695	Spinocerebellar ataxia 11	AD
TTC19	613814	Mitochondrial complex III deficiency, nuclear type 2	AR
TTC8	608132	Bardet-Biedl syndrome 8	AR
TTC8	608132	?Retinitis pigmentosa 51	AR
TTPA	600415	Ataxia with isolated vitamin E deficiency	AR
TTR	176300	[Dystransthyretinemic hyperthyroxinemia]	AD
		Carpal tunnel syndrome, familial	AD
		Amyloidosis, hereditary, transthyretin-related	AD
TUBB4A	602662	Dystonia 4, torsion, autosomal dominant	AD
TUBB4A	602662	Leukodystrophy, hypomyelinating, 6	AD
TUFM	602389	Combined oxidative phosphorylation deficiency 4	AR
TWNK	606075	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	AD
		Perrault syndrome 5	AR
		Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	AR
TYMP	131222	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	AR
UBA5	610552	Developmental and epileptic encephalopathy 44	AR
UBA5	610552	?Spinocerebellar ataxia, autosomal recessive 24	AR
UBAP1	609787	Spastic paraplegia 80, autosomal dominant	AD
UBE3A	601623	Angelman syndrome	AD
UBTF	600673	Neurodegeneration, childhood-onset, with brain atrophy	AD
UCHL1	191342	?Parkinson disease 5, susceptibility to	AD
UCHL1	191342	Spastic paraplegia 79, autosomal recessive	AR
UNC80	612636	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	AR
UQCC2	614461	Mitochondrial complex III deficiency, nuclear type 7	AR
UQCRB	191330	Mitochondrial complex III deficiency, nuclear type 3	AR
UQCRC2	191329	Mitochondrial complex III deficiency, nuclear type 5	AR
UQCRQ	612080	Mitochondrial complex III deficiency, nuclear type 4	AR
USP8	603158	Pituitary adenoma 4, ACTH-secreting, somatic	-
VAMP1	185880	Myasthenic syndrome, congenital, 25	AR
VAMP1	185880	Spastic ataxia 1, autosomal dominant	AD
VARS2	612802	Combined oxidative phosphorylation deficiency 20	AR
VCP	601023	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1	AD
		Charcot-Marie-Tooth disease, type 2Y	AD
		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, autosomal recessive	AR
VRK1	602168	Pontocerebellar hypoplasia type 1A	AR
WASHC5	610657	Spastic paraplegia 8, autosomal dominant	AD
WASHC5	610657	Ritscher-Schinzel syndrome 1	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	AR
WDR81	614218	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	AR
WFS1	606201	?Cataract 41	AD
		Wolfram-like syndrome, autosomal dominant	AD
		Wolfram syndrome 1	AR
		Diabetes mellitus, noninsulin-dependent, association with	AD
		Deafness, autosomal dominant 6/14/38	AD
WWOX	605131	Esophageal squamous cell carcinoma, somatic	-
		Developmental and epileptic encephalopathy 28	AR
		Spinocerebellar ataxia, autosomal recessive 12	AR
YARS2	610957	Myopathy, lactic acidosis, and sideroblastic anemia 2	AR
ZFYVE26	612012	Spastic paraplegia 15, autosomal recessive	AR
ZFYVE27	610243	Spastic paraplegia 33, autosomal dominant	AD
ZNF423	604557	Joubert syndrome 19	AD, AR
ZNF423	604557	Nephronophthisis 14	AD, AR

Ataxia / Spastic paraplegia comprehensive panel

No. of genes:	493
TAT:	25 days
Coverage:	≥99.00% ≥20x
Details:	NGS including CNV analysis Repeat expansion analysis: ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, CACNA1A, FXN, NOP56, PPP2R2B, TBP

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
AARS2	612035	Combined oxidative phosphorylation deficiency 8	AR
AARS2	612035	Leukoencephalopathy, progressive, with ovarian failure	AR
ABCB7	300135	Anemia, sideroblastic, with ataxia	XLR
ABCD1	300371	Adrenoleukodystrophy	XLR
ABCD1	300371	Adrenomyeloneuropathy, adult	XLR
ABHD12	613599	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	AR
ABHD5	604780	Chanarin-Dorfman syndrome	AR
ACAD9	611103	Mitochondrial complex I deficiency, nuclear type 20	AR
ACADVL	609575	VLCAD deficiency	AR
ACO2	100850	?Optic atrophy 9	AR
ACO2	100850	Infantile cerebellar-retinal degeneration	AR
ADAR	146920	Aicardi-Goutieres syndrome 6	AR
ADAR	146920	Dyschromatosis symmetrica hereditaria	AD
ADPRS	610624	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	AR
AFG3L2	604581	Spinocerebellar ataxia 28	AD
		Spastic ataxia 5, autosomal recessive	AR
		Optic atrophy 12	AD
AGK	610345	Sengers syndrome	AR
AGK	610345	Cataract 38, autosomal recessive	AR
AGTPBP1	606830	Neurodegeneration, childhood-onset, with cerebellar atrophy	AR
AHI1	608894	Joubert syndrome 3	AR
AIFM1	300169	Cowchock syndrome	XLR
		Combined oxidative phosphorylation deficiency 6	XLR
		Deafness, X-linked 5	XLR
		Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy	XLR
AIMP1	603605	Leukodystrophy, hypomyelinating, 3	AR
ALAS2	301300	Protoporphyria, erythropoietic, X-linked	XL
ALAS2	301300	Anemia, sideroblastic, 1	XLR
ALDH18A1	138250	Cutis laxa, autosomal dominant 3	AD
		Cutis laxa, autosomal recessive, type IIIA	AR
		Spastic paraplegia 9B, autosomal recessive	AR
		Spastic paraplegia 9A, autosomal dominant	AD
ALDH5A1	610045	Succinic semialdehyde dehydrogenase deficiency	AR
ALS2	606352	Amyotrophic lateral sclerosis 2, juvenile	AR
		Spastic paralysis, infantile onset ascending	AR
		Primary lateral sclerosis, juvenile	AR
AMACR	604489	Bile acid synthesis defect, congenital, 4	AR
AMACR	604489	Alpha-methylacyl-CoA racemase deficiency	AR
AMPD2	102771	?Spastic paraplegia 63	AR
AMPD2	102771	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, autosomal recessive	AR
AP4E1	607244	Stuttering, familial persistent, 1	AD
AP4E1	607244	Spastic paraplegia 51, autosomal recessive	AR
AP4M1	602296	Spastic paraplegia 50, autosomal recessive	AR
AP4S1	607243	Spastic paraplegia 52, autosomal recessive	AR
AP5Z1	613653	Spastic paraplegia 48, autosomal recessive	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	AR
		Bardet-Biedl syndrome 1, modifier of	AR, DR
		Bardet-Biedl syndrome 3	AR
ARL6IP1	607669	?Spastic paraplegia 61, autosomal recessive	AR
ARSA	607574	Metachromatic leukodystrophy	AR
ATCAY	608179	Ataxia, cerebellar, Cayman type	AR
ATL1	606439	Spastic paraplegia 3A, autosomal dominant	AD
ATL1	606439	Neuropathy, hereditary sensory, type ID	AD
ATM	607585	Breast cancer, susceptibility to	AD, SM
ATM	607585	Ataxia-telangiectasia	AR
ATN1	607462	Dentatorubral-pallidoluysian atrophy	AD
ATN1	607462	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	AD
ATP13A2	610513	Spastic paraplegia 78, autosomal recessive	AR
ATP13A2	610513	Kufor-Rakeb syndrome	AR
ATP1A2	182340	Developmental and epileptic encephalopathy 98	AD
		Alternating hemiplegia of childhood 1	AD
		Migraine, familial basilar	AD
		Migraine, familial hemiplegic, 2	AD
		Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	AR
ATP1A3	182350	Alternating hemiplegia of childhood 2	AD
		Dystonia-12	AD
		Developmental and epileptic encephalopathy 99	AD
		CAPOS syndrome	AD
ATP2B3	300014	?Spinocerebellar ataxia, X-linked 1	XLR
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	XLR
		Alpha-thalassemia/mental retardation syndrome	XLD
		Alpha-thalassemia myelodysplasia syndrome, somatic	-
ATXN1	601556	Spinocerebellar ataxia 1	AD
ATXN10	611150	Spinocerebellar ataxia 10	AD
ATXN2	601517	Spinocerebellar ataxia 2	AD
		Parkinson disease, late-onset, susceptibility to	AD, MF
		Amyotrophic lateral sclerosis, susceptibility to, 13	AD
ATXN3	607047	Machado-Joseph disease	AD
ATXN7	607640	Spinocerebellar ataxia 7	AD
ATXN8OS	603680	Parkinson disease, susceptibility to	AD, MF
ATXN8OS	603680	Spinocerebellar ataxia 8	AD
AUH	600529	3-methylglutaconic aciduria, type I	AR
B4GALNT1	601873	Spastic paraplegia 26, autosomal recessive	AR
B9D1	614144	?Meckel syndrome 9	AR
B9D1	614144	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	AR
BBS2	606151	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	AR
		Bjornstad syndrome	AR
		Mitochondrial complex III deficiency, nuclear type 1	AR
BEAN1	612051	Spinocerebellar ataxia 31	AD
BICD2	609797	Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant	AD
BICD2	609797	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	AD
BOLA3	613183	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	AR
BSCL2	606158	Lipodystrophy, congenital generalized, type 2	AR
		Encephalopathy, progressive, with or without lipodystrophy	AR
		Silver spastic paraplegia syndrome	AD
		Neuropathy, distal hereditary motor, type VC	AD
BTD	609019	Biotinidase deficiency	AR
C19orf12	614297	Neurodegeneration with brain iron accumulation 4	AD, AR
C19orf12	614297	?Spastic paraplegia 43, autosomal recessive	AR
CA8	114815	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3	AR
CACNA1A	601011	Episodic ataxia, type 2	AD
		Migraine, familial hemiplegic, 1	AD
		Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia	AD
		Spinocerebellar ataxia 6	AD
		Developemental and epileptic encephalopathy 42	AD
CACNA1G	604065	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	AD
CACNA1G	604065	Spinocerebellar ataxia 42	AD
CACNB4	601949	Epilepsy, juvenile myoclonic, susceptibility to, 6	AD
		Epilepsy, idiopathic generalized, susceptibility to, 9	AD
		Episodic ataxia, type 5	AD
CAMTA1	611501	Cerebellar ataxia, nonprogressive, with mental retardation	AD
CAPN1	114220	Spastic paraplegia 76, autosomal recessive	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	XLD
		FG syndrome 4	-
CC2D2A	612013	Meckel syndrome 6	AR
		Retinitis pigmentosa 93	AR
		Joubert syndrome 9	AR
		COACH syndrome 2	AR
CCDC88C	611204	Hydrocephalus, congenital, 1	AR
CCDC88C	611204	?Spinocerebellar ataxia 40	AD
CCT5	610150	Neuropathy, hereditary sensory, with spastic paraplegia	AR
CEP290	610142	Leber congenital amaurosis 10	-
		Meckel syndrome 4	AR
		?Bardet-Biedl syndrome 14	AR
		Senior-Loken syndrome 6	AR
		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	AD
		Hyperaldosteronism, familial, type II	AD
		Epilepsy, juvenile myoclonic, susceptibility to, 8	AD
		Epilepsy, idiopathic generalized, susceptibility to, 11	AD
		Leukoencephalopathy with ataxia	AR
CLN5	608102	Ceroid lipofuscinosis, neuronal, 5	AR
CLN6	606725	Ceroid lipofuscinosis, neuronal, Kufs type, adult onset	AR
CLN6	606725	Ceroid lipofuscinosis, neuronal, 6	AR
CLPB	616254	3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia	AR
		3-methylglutaconic aciduria, type VIIA, autosomal dominant	AD
		Neutropenia, severe congenital, 9, autosomal dominant	AD
CLPP	601119	Perrault syndrome 3	AR
COA6	614772	Mitochondrial complex IV deficiency, nuclear type 13	AR
COA7	615623	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	AR
COA8	616003	Mitochondrial complex IV deficiency, nuclear type 17	AR
COASY	609855	Neurodegeneration with brain iron accumulation 6	AR
COASY	609855	Pontocerebellar hypoplasia, type 12	AR
COL4A1	120130	?Retinal arteries, tortuosity of	AD
		Hemorrhage, intracerebral, susceptibility to	-
		Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	AD
		Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	AD
		Brain small vessel disease with or without ocular anomalies	AD
COL4A2	120090	Hemorrhage, intracerebral, susceptibility to	-
COL4A2	120090	Brain small vessel disease 2	AD
COQ2	609825	Coenzyme Q10 deficiency, primary, 1	AR
COQ2	609825	Multiple system atrophy, susceptibility to	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	Mitochondrial complex IV deficiency, nuclear type 3	AR
COX15	603646	Mitochondrial complex IV deficiency, nuclear type 6	AR
COX20	614698	Mitochondrial complex IV deficiency, nuclear type 11	AR
COX6A1	602072	Charcot-Marie-Tooth disease, recessive intermediate D	AR
COX6B1	124089	Mitochondrial complex IV deficiency, nuclear type 7	AR
CP	117700	Cerebellar ataxia	AR
		Hemosiderosis, systemic, due to aceruloplasminemia	AR
		[Hypoceruloplasminemia, hereditary]	AR
CPLANE1	614571	Orofaciodigital syndrome VI	AR
CPLANE1	614571	Joubert syndrome 17	AR
CPT1C	608846	?Spastic paraplegia 73, autosomal dominant	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	Mitochondrial complex III deficiency, nuclear type 6	AR
CYP27A1	606530	Cerebrotendinous xanthomatosis	AR
CYP2U1	610670	Spastic paraplegia 56, autosomal recessive	AR
CYP7B1	603711	Spastic paraplegia 5A, autosomal recessive	AR
CYP7B1	603711	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, autosomal recessive	AR
DDHD2	615003	Spastic paraplegia 54, autosomal recessive	AR
DGUOK	601465	Portal hypertension, noncirrhotic	AR
		Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	AR
		Mitochondrial 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	AR
DNA2	601810	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	AD
DNAJC19	608977	3-methylglutaconic aciduria, type V	AR
DNAJC5	611203	Ceroid lipofuscinosis, neuronal, 4, Parry type	AD
DNM1L	603850	Optic atrophy 5	AD
DNM1L	603850	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	AD, AR
DNMT1	126375	Neuropathy, hereditary sensory, type IE	AD
DNMT1	126375	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	AD
DOCK3	603123	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	AR
DSTYK	612666	Spastic paraplegia 23	AR
DSTYK	612666	Congenital anomalies of kidney and urinary tract 1	AD
EARS2	612799	Combined oxidative phosphorylation deficiency 12	AR
EBF3	607407	Hypotonia, ataxia, and delayed development syndrome	AD
ECHS1	602292	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency	AR
EIF2B1	606686	Leukoencephalopathy with vanishing white matter	AR
EIF2B2	606454	Ovarioleukodystrophy	AR
EIF2B2	606454	Leukoencephalopathy with vanishing white matter	AR
EIF2B3	606273	Leukoencephalopathy with vanishing white matter	AR
EIF2B4	606687	Ovarioleukodystrophy	AR
EIF2B4	606687	Leukoencephalopathy with vanishing white matter	AR
EIF2B5	603945	Ovarioleukodystrophy	AR
EIF2B5	603945	Leukoencephalopathy with vanishing white matter	AR
ELAC2	605367	Prostate cancer, hereditary, 2, susceptibility to	-
ELAC2	605367	Combined oxidative phosphorylation deficiency 17	AR
ELOVL4	605512	Ichthyosis, spastic quadriplegia, and mental retardation	AR
		Stargardt disease 3	AD
		Spinocerebellar ataxia 34	AD
ELOVL5	611805	Spinocerebellar ataxia 38	AD
ENTPD1	601752	Spastic paraplegia 64, autosomal recessive	AR
ERLIN1	611604	Spastic paraplegia 62	AR
ERLIN2	611605	Spastic paraplegia 18, autosomal recessive	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, autosomal recessive	AR
FARS2	611592	Combined oxidative phosphorylation deficiency 14	AR
FARS2	611592	Spastic paraplegia 77, autosomal recessive	AR
FASTKD2	612322	Combined oxidative phosphorylation deficiency 44	AR
FAT2	604269	Spinocerebellar ataxia 45	AD
FBXL4	605654	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	AR
FDX2	614585	Mitochondrial 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	AR
FH	136850	Leiomyomatosis and renal cell cancer	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	Mitochondrial complex I deficiency, nuclear type 19	AR
FTL	134790	Neurodegeneration with brain iron accumulation 3	AD
		Hyperferritinemia-cataract syndrome	AD
		L-ferritin deficiency, dominant and recessive	AD, AR
FXN	606829	Friedreich ataxia	AR
FXN	606829	Friedreich ataxia with retained reflexes	AR
GAD1	605363	?Cerebral palsy, spastic quadriplegic, 1	AR
GAD1	605363	Developmental and epileptic encephalopathy 89	AR
GALC	606890	Krabbe disease	AR
GARS1	600287	Spinal muscular atrophy, infantile, James type	AD
		Charcot-Marie-Tooth disease, type 2D	AD
		Neuronopathy, distal hereditary motor, type VA	AD
GBA	606463	Lewy body dementia, susceptibility to	AD
		Gaucher disease, type IIIC	AR
		Parkinson disease, late-onset, susceptibility to	AD, MF
		Gaucher disease, type II	AR
		Gaucher disease, type III	AR
		Gaucher disease, perinatal lethal	AR
		Gaucher disease, type I	AR
GBA2	609471	Spastic paraplegia 46, autosomal recessive	AR
GCDH	608801	Glutaricaciduria, type I	AR
GCH1	600225	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia	AD, AR
GCH1	600225	Hyperphenylalaninemia, BH4-deficient, B	AR
GFAP	137780	Alexander disease	AD
GFER	600924	Myopathy, mitochondrial 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, X-linked dominant, 1	XLD
GJC2	608803	Leukodystrophy, hypomyelinating, 2	AR
		Spastic paraplegia 44, autosomal recessive	AR
		Lymphatic malformation 3	AD
GLRX5	609588	Spasticity, childhood-onset, with hyperglycinemia	AR
GLRX5	609588	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	AD
GRM1	604473	Spinocerebellar ataxia, autosomal recessive 13	AR
GSS	601002	Glutathione synthetase deficiency	AR
GSS	601002	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	AD
HEPACAM	611642	Megalencephalic leukoencephalopathy with subcortical cysts 2A	AR
HEXA	606869	Tay-Sachs disease	AR
		[Hex A pseudodeficiency]	AR
		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	AR
HSPD1	118190	Spastic paraplegia 13, autosomal dominant	AD
HTRA2	606441	Parkinson disease 13	-
HTRA2	606441	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, autosomal recessive	AR
IBA57	615316	Multiple mitochondrial dysfunctions syndrome 3	AR
INPP5E	613037	Mental retardation, truncal obesity, retinal dystrophy, and micropenis	AR
INPP5E	613037	Joubert syndrome 1	AR
IRF2BPL	611720	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	AD
ISCA2	615317	Multiple mitochondrial dysfunctions syndrome 4	AR
ISCU	611911	Myopathy with lactic acidosis, hereditary	AR
ITM2B	603904	Dementia, familial British	AD
		?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities	AD
		Dementia, familial Danish	AD
ITPR1	147265	Spinocerebellar ataxia 15	AD
		Spinocerebellar ataxia 29, congenital nonprogressive	AD
		Gillespie syndrome	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	AD
KCND3	605411	Spinocerebellar ataxia 19	AD
KCNJ10	602208	Enlarged vestibular aqueduct, digenic	AR
KCNJ10	602208	SESAME syndrome	AR
KDM5C	314690	Mental retardation, X-linked, syndromic, Claes-Jensen type	XLR
KIDINS220	615759	Ventriculomegaly and arthrogryposis	AR
KIDINS220	615759	Spastic paraplegia, intellectual disability, nystagmus, and obesity	AD
KIF1A	601255	NESCAV syndrome	AD
		Spastic paraplegia 30, autosomal recessive	AD, AR
		Neuropathy, hereditary sensory, type IIC	AR
		Spastic paraplegia 30, autosomal dominant	AD, AR
KIF1C	603060	Spastic ataxia 2, autosomal recessive	AR
KIF5A	602821	Amyotrophic lateral sclerosis, susceptibility to, 25	AD
		Myoclonus, intractable, neonatal	AD
		Spastic paraplegia 10, autosomal dominant	AD
KIF7	611254	Joubert syndrome 12	AR
		?Hydrolethalus syndrome 2	AR
		?Al-Gazali-Bakalinova syndrome	AR
		Acrocallosal syndrome	AR
L1CAM	308840	Hydrocephalus with congenital idiopathic intestinal pseudoobstruction	XLR
		CRASH syndrome	XLR
		Corpus callosum, partial agenesis of	XLR
		Hydrocephalus with Hirschsprung disease	XLR
		MASA syndrome	XLR
		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	AR
LARS2	604544	Perrault syndrome 4	AR
LIAS	607031	Hyperglycinemia, lactic acidosis, and seizures	AR
LIPT1	610284	Lipoyltransferase 1 deficiency	AR
LMNB1	150340	Leukodystrophy, adult-onset, autosomal dominant	AD
LMNB1	150340	Microcephaly 26, primary, autosomal dominant	AD
LRPPRC	607544	Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)	AR
LYRM7	615831	Mitochondrial complex III deficiency, nuclear type 8	AR
LYST	606897	Chediak-Higashi syndrome	AR
MAG	159460	Spastic paraplegia 75, autosomal recessive	AR
MARS1	156560	Charcot-Marie-Tooth disease, axonal, type 2U	AD
		?Trichothiodystrophy 9, nonphotosensitive	AR
		Interstitial lung and liver disease	AR
MARS2	609728	Spastic ataxia 3, autosomal recessive	AR
MARS2	609728	?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 mitochondrial and peroxisomal fission 2	AR
MFN2	608507	Hereditary motor and sensory neuropathy VIA	AD
		Charcot-Marie-Tooth disease, axonal, type 2A2B	AR
		Charcot-Marie-Tooth disease, axonal, type 2A2A	AD
MGME1	615076	Mitochondrial DNA depletion syndrome 11	AR
MICU1	605084	Myopathy with extrapyramidal signs	AR
MKKS	604896	McKusick-Kaufman syndrome	AR
MKKS	604896	Bardet-Biedl syndrome 6	AR
MKS1	609883	Bardet-Biedl syndrome 13	AR
		Joubert syndrome 28	AR
		Meckel syndrome 1	AR
MLC1	605908	Megalencephalic leukoencephalopathy with subcortical cysts	AR
MPC1	614738	Mitochondrial pyruvate carrier deficiency	AR
MPV17	137960	Charcot-Marie-Tooth disease, axonal, type 2EE	AR
MPV17	137960	Mitochondrial 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	AR
MRPS22	605810	Combined oxidative phosphorylation deficiency 5	AR
MSTO1	617619	Myopathy, mitochondrial, and ataxia	AD, AR
MTFMT	611766	Combined oxidative phosphorylation deficiency 15	AR
MTFMT	611766	Mitochondrial complex I deficiency, nuclear type 27	AR
MTO1	614667	Combined oxidative phosphorylation deficiency 10	AR
MTPAP	613669	?Spastic ataxia 4, autosomal recessive	AR
MTRFR	613541	Spastic paraplegia 55, autosomal recessive	AR
MTRFR	613541	Combined oxidative phosphorylation deficiency 7	AR
MTTP	157147	Metabolic syndrome, protection against	AD
MTTP	157147	Abetalipoproteinemia	AR
NARS2	612803	?Deafness, autosomal recessive 94	AR
NARS2	612803	Combined oxidative phosphorylation deficiency 24	AR
NDUFA1	300078	Mitochondrial complex I deficiency, nuclear type 12	XLR
NDUFA10	603835	Mitochondrial complex I deficiency, nuclear type 22	AR
NDUFA11	612638	Mitochondrial complex I deficiency, nuclear type 14	AR
NDUFA12	614530	?Mitochondrial complex I deficiency, nuclear type 23	AR
NDUFA2	602137	Mitochondrial complex I deficiency, nuclear type 13	AR
NDUFA9	603834	Mitochondrial complex I deficiency, nuclear type 26	AR
NDUFAF1	606934	Mitochondrial complex I deficiency, nuclear type 11	AR
NDUFAF2	609653	Mitochondrial complex I deficiency, nuclear type 10	AR
NDUFAF3	612911	Mitochondrial complex I deficiency, nuclear type 18	AR
NDUFAF4	611776	Mitochondrial complex I deficiency, nuclear type 15	AR
NDUFAF5	612360	Mitochondrial complex I deficiency, nuclear type 16	AR
NDUFAF6	612392	Mitochondrial complex I deficiency, nuclear type 17	AR
NDUFAF6	612392	Fanconi renotubular syndrome 5	AR
NDUFB3	603839	Mitochondrial complex I deficiency, nuclear type 25	AR
NDUFS1	157655	Mitochondrial complex I deficiency, nuclear type 5	AR
NDUFS2	602985	Mitochondrial complex I deficiency, nuclear type 6	AR
NDUFS3	603846	Mitochondrial complex I deficiency, nuclear type 8	AR
NDUFS4	602694	Mitochondrial complex I deficiency, nuclear type 1	AR
NDUFS6	603848	Mitochondrial complex I deficiency, nuclear type 9	AR
NDUFS7	601825	Mitochondrial complex I deficiency, nuclear type 3	AR
NDUFS8	602141	Mitochondrial complex I deficiency, nuclear type 2	AR
NDUFV1	161015	Mitochondrial complex I deficiency, nuclear type 4	AR
NDUFV2	600532	Mitochondrial complex I deficiency, nuclear type 7	AR
NFU1	608100	Multiple mitochondrial dysfunctions syndrome 1	AR
NIPA1	608145	Spastic paraplegia 6, autosomal dominant	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	AR
NPC1	607623	Niemann-Pick disease, type D	AR
NPC2	601015	Niemann-pick disease, type C2	AR
NPHP1	607100	Joubert syndrome 4	AR
		Nephronophthisis 1, juvenile	AR
		Senior-Loken syndrome-1	AR
NR2F1	132890	Bosch-Boonstra-Schaaf optic atrophy syndrome	AD
NT5C2	600417	Spastic paraplegia 45, autosomal recessive	AR
NUBPL	613621	Mitochondrial complex I deficiency, nuclear type 21	AR
OFD1	300170	Joubert syndrome 10	XLR
		Simpson-Golabi-Behmel syndrome, type 2	XLR
		?Retinitis pigmentosa 23	XLR
		Orofaciodigital syndrome I	XLD
OPA1	605290	Optic atrophy 1	AD
		?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)	AR
		Glaucoma, normal tension, susceptibility to	-
		Optic atrophy plus syndrome	AD
		Behr syndrome	AR
OPA3	606580	3-methylglutaconic aciduria, type III	AR
OPA3	606580	Optic atrophy 3 with cataract	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	AR
PANK2	606157	Neurodegeneration with brain iron accumulation 1	AR
PARS2	612036	Developmental and epileptic encephalopathy 75	AR
PAX6	607108	?Coloboma, ocular	AD
		Aniridia	AD
		?Morning glory disc anomaly	AD
		Keratitis	AD
		Optic nerve hypoplasia	AD
		?Coloboma of optic nerve	AD
		Anterior segment dysgenesis 5, multiple subtypes	AD
		Cataract with late-onset corneal dystrophy	AD
		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	Mitochondrial complex IV deficiency, nuclear type 12	AR
PEX10	602859	Peroxisome biogenesis disorder 6A (Zellweger)	AR
PEX10	602859	Peroxisome biogenesis disorder 6B	AR
PEX2	170993	Peroxisome biogenesis disorder 5B	AR
PEX2	170993	Peroxisome biogenesis disorder 5A (Zellweger)	AR
PEX7	601757	Peroxisome biogenesis disorder 9B	AR
PEX7	601757	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	AR
		Parkinson disease 14, autosomal recessive	AR
		Infantile neuroaxonal dystrophy 1	AR
PLP1	300401	Pelizaeus-Merzbacher disease	XLR
PLP1	300401	Spastic paraplegia 2, X-linked	XLR
PMPCA	613036	Spinocerebellar ataxia, autosomal recessive 2	AR
PNKD	609023	Paroxysmal nonkinesigenic dyskinesia 1	AD
PNKP	605610	Ataxia-oculomotor apraxia 4	AR
		Microcephaly, seizures, and developmental delay	AR
		?Charcot-Marie-Tooth disease, type 2B2	AR
PNPLA6	603197	Spastic paraplegia 39, autosomal recessive	AR
		Boucher-Neuhauser syndrome	AR
		Oliver-McFarlane syndrome	AR
		?Laurence-Moon syndrome	AR
PNPT1	610316	Deafness, autosomal recessive 70	AR
		Combined oxidative phosphorylation deficiency 13	AR
		Spinocerebellar ataxia 25	-
POLG	174763	Progressive external ophthalmoplegia, autosomal recessive 1	AR
		Progressive external ophthalmoplegia, autosomal dominant 1	AD
		Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)	AR
		Mitochondrial DNA depletion syndrome 4B (MNGIE type)	AR
		Mitochondrial DNA depletion syndrome 4A (Alpers type)	AR
POLG2	604983	Mitochondrial DNA depletion syndrome 16 (hepatic type)	AR
		?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)	AR
		Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	AD
POLR3A	614258	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism	AR
POLR3A	614258	Wiedemann-Rautenstrauch syndrome	AR
POLR3B	614366	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	AR
POLR3B	614366	Charcot-Marie-Tooth disease, demyelinating, type 1I	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	AD
		Convulsions, familial infantile, with paroxysmal choreoathetosis	AD
		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	AR
RAB3GAP2	609275	Martsolf syndrome	AR
RARS1	107820	Leukodystrophy, hypomyelinating, 9	AR
RARS2	611524	Pontocerebellar hypoplasia, type 6	AR
REEP1	609139	Spastic paraplegia 31, autosomal dominant	AD
REEP1	609139	?Neuronopathy, distal hereditary motor, type VB	AD
REEP2	609347	?Spastic paraplegia 72, autosomal recessive	AD, AR
REEP2	609347	?Spastic paraplegia 72, autosomal dominant	AD, AR
RMND1	614917	Combined oxidative phosphorylation deficiency 11	AR
RNASEH1	604123	Progressive external ophthalmoplegia with mitochondrial 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	AR
		?COACH syndrome 3	AR
		Meckel syndrome 5	AR
RRM2B	604712	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	AR
		Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	AD
		Mitochondrial DNA depletion syndrome 8B (MNGIE type)	AR
		Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction	AR
RTN2	603183	Spastic paraplegia 12, autosomal dominant	AD
RUBCN	613516	Spinocerebellar ataxia, autosomal recessive 15	AR
SACS	604490	Spastic ataxia, Charlevoix-Saguenay type	AR
SAMD9L	611170	Ataxia-pancytopenia syndrome	AD
		Monosomy 7 myelodysplasia and leukemia syndrome 1	AD
		Spinocerebellar ataxia 49	AD
SARS2	612804	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis	AR
SCN1A	182389	Epilepsy, generalized, with febrile seizures plus, type 2	AD
		Migraine, familial hemiplegic, 3	AD
		Developmental and epileptic encephalopathy 6B, non-Dravet	AD
		Febrile seizures, familial, 3A	AD
		Dravet syndrome	AD
SCN2A	182390	Developmental and epileptic encephalopathy 11	AD
		Seizures, benign familial infantile, 3	AD
		Episodic ataxia, type 9	AD
SCO1	603644	Mitochondrial complex IV deficiency, nuclear type 4	AR
SCO2	604272	Myopia 6	AD
SCO2	604272	Mitochondrial complex IV deficiency, nuclear type 2	AR
SCYL1	607982	Spinocerebellar ataxia, autosomal recessive 21	AR
SDHA	600857	Neurodegeneration with ataxia and late-onset optic atrophy	AD
		Cardiomyopathy, dilated, 1GG	AR
		Leigh syndrome	AR, Mitochondrial
		Mitochondrial respiratory chain complex II deficiency	AR
		Paragangliomas 5	AD
SDHAF1	612848	Mitochondrial complex II deficiency, nuclear type 2	AR
SDHAF1	612848	Mitochondrial complex II deficiency	AR
SELENOI	607915	Spastic paraplegia 81, autosomal recessive	AR
SERAC1	614725	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	AR
SETX	608465	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	AR
SETX	608465	Amyotrophic lateral sclerosis 4, juvenile	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	AR
SLC17A5	604322	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)	AR
SLC25A19	606521	Microcephaly, Amish type	AR
SLC25A26	611037	Combined oxidative phosphorylation deficiency 28	AR
SLC25A3	600370	Mitochondrial phosphate carrier deficiency	AR
SLC25A38	610819	Anemia, sideroblastic, 2, pyridoxine-refractory	AR
SLC25A4	103220	Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR	AR
		Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD	AD
		Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	AD
SLC25A46	610826	Neuropathy, hereditary motor and sensory, type VIB	AR
SLC25A46	610826	Pontocerebellar hypoplasia, type 1E	AR
SLC2A1	138140	GLUT1 deficiency syndrome 2, childhood onset	AD
		GLUT1 deficiency syndrome 1, infantile onset, severe	AD, AR
		Epilepsy, idiopathic generalized, susceptibility to, 12	AD
		Stomatin-deficient cryohydrocytosis with neurologic defects	AD
		Dystonia 9	AD
SLC33A1	603690	Congenital cataracts, hearing loss, and neurodegeneration	AR
SLC33A1	603690	Spastic paraplegia 42, autosomal dominant	AD
SLC52A2	607882	Brown-Vialetto-Van Laere syndrome 2	AR
SLC52A3	613350	?Fazio-Londe disease	AR
SLC52A3	613350	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, autosomal dominant	AD
SPG11	610844	Spastic paraplegia 11, autosomal recessive	AR
		Amyotrophic lateral sclerosis 5, juvenile	AR
		Charcot-Marie-Tooth disease, axonal, type 2X	AR
SPG21	608181	Mast syndrome	AR
SPG7	602783	Spastic paraplegia 7, autosomal recessive	AD, AR
SPR	182125	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	?AD, AR
SPTBN2	604985	Spinocerebellar ataxia, autosomal recessive 14	AR
SPTBN2	604985	Spinocerebellar ataxia 5	AD
STUB1	607207	?Spinocerebellar ataxia 48	AD
STUB1	607207	Spinocerebellar ataxia, autosomal recessive 16	AR
SUCLA2	603921	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	AR
SUCLG1	611224	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)	AR
SURF1	185620	Charcot-Marie-Tooth disease, type 4K	AR
SURF1	185620	Mitochondrial complex IV deficiency, nuclear type 1	AR
SYNE1	608441	Arthrogryposis multiplex congenita 3, myogenic type	AR
		Emery-Dreifuss muscular dystrophy 4, autosomal dominant	AD
		Spinocerebellar ataxia, autosomal recessive 8	AR
TACO1	612958	Mitochondrial complex IV deficiency, nuclear type 8	AR
TARS2	612805	?Combined oxidative phosphorylation deficiency 21	AR
TBC1D24	613577	Deafness, autosomal dominant 65	AD
		Deafness, autosomal recessive 86	AR
		Myoclonic epilepsy, infantile, familial	AR
		Developmental and epileptic encephalopathy 16	AR
		DOORS syndrome	AR
		Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp	AR
TBP	600075	Spinocerebellar ataxia 17	AD
TBP	600075	Parkinson disease, susceptibility to	AD, MF
TCTN1	609863	Joubert syndrome 13	AR
TCTN2	613846	?Meckel syndrome 8	AR
TCTN2	613846	Joubert syndrome 24	AR
TCTN3	613847	Joubert syndrome 18	AR
TCTN3	613847	Orofaciodigital syndrome IV	AR
TDP1	607198	?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	AR
TECPR2	615000	Spastic paraplegia 49, autosomal recessive	AR
TFG	602498	Hereditary motor and sensory neuropathy, Okinawa type	AD
TFG	602498	?Spastic paraplegia 57, autosomal recessive	AR
TGM6	613900	Spinocerebellar ataxia 35	AD
TIMM8A	300356	Mohr-Tranebjaerg syndrome	XLR
TK2	188250	Mitochondrial DNA depletion syndrome 2 (myopathic type)	AR
TK2	188250	?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	AR
TMEM126B	615533	Mitochondrial complex I deficiency, nuclear type 29	AR
TMEM138	614459	Joubert syndrome 16	AR
TMEM216	613277	Meckel syndrome 2	AR
TMEM216	613277	Joubert syndrome 2	AR
TMEM231	614949	Joubert syndrome 20	AR
TMEM231	614949	Meckel syndrome 11	AR
TMEM237	614423	Joubert syndrome 14	AR
TMEM240	616101	Spinocerebellar ataxia 21	AD
TMEM67	609884	COACH syndrome 1	AR
		?RHYNS syndrome	AR
		Meckel syndrome 3	AR
		Joubert syndrome 6	AR
		Bardet-Biedl syndrome 14, modifier of	AR
		Nephronophthisis 11	AR
TMEM70	612418	Mitochondrial 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	AR
TPP1	607998	Spinocerebellar ataxia, autosomal recessive 7	AR
TRIM32	602290	Muscular dystrophy, limb-girdle, autosomal recessive 8	AR
TRIM32	602290	?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	AR
TRNT1	612907	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	AR
		?Pontocerebellar hypoplasia type 5	AR
		Pontocerebellar hypoplasia type 4	AR
TSFM	604723	Combined oxidative phosphorylation deficiency 3	AR
TTBK2	611695	Spinocerebellar ataxia 11	AD
TTC19	613814	Mitochondrial complex III deficiency, nuclear type 2	AR
TTC8	608132	Bardet-Biedl syndrome 8	AR
TTC8	608132	?Retinitis pigmentosa 51	AR
TTPA	600415	Ataxia with isolated vitamin E deficiency	AR
TTR	176300	[Dystransthyretinemic hyperthyroxinemia]	AD
		Carpal tunnel syndrome, familial	AD
		Amyloidosis, hereditary, transthyretin-related	AD
TUBB4A	602662	Dystonia 4, torsion, autosomal dominant	AD
TUBB4A	602662	Leukodystrophy, hypomyelinating, 6	AD
TUFM	602389	Combined oxidative phosphorylation deficiency 4	AR
TWNK	606075	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	AD
		Perrault syndrome 5	AR
		Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	AR
TYMP	131222	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	AR
UBA5	610552	Developmental and epileptic encephalopathy 44	AR
UBA5	610552	?Spinocerebellar ataxia, autosomal recessive 24	AR
UBAP1	609787	Spastic paraplegia 80, autosomal dominant	AD
UBE3A	601623	Angelman syndrome	AD
UBTF	600673	Neurodegeneration, childhood-onset, with brain atrophy	AD
UCHL1	191342	?Parkinson disease 5, susceptibility to	AD
UCHL1	191342	Spastic paraplegia 79, autosomal recessive	AR
UNC80	612636	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	AR
UQCC2	614461	Mitochondrial complex III deficiency, nuclear type 7	AR
UQCRB	191330	Mitochondrial complex III deficiency, nuclear type 3	AR
UQCRC2	191329	Mitochondrial complex III deficiency, nuclear type 5	AR
UQCRQ	612080	Mitochondrial complex III deficiency, nuclear type 4	AR
USP8	603158	Pituitary adenoma 4, ACTH-secreting, somatic	-
VAMP1	185880	Myasthenic syndrome, congenital, 25	AR
VAMP1	185880	Spastic ataxia 1, autosomal dominant	AD
VARS2	612802	Combined oxidative phosphorylation deficiency 20	AR
VCP	601023	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1	AD
		Charcot-Marie-Tooth disease, type 2Y	AD
		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, autosomal recessive	AR
VRK1	602168	Pontocerebellar hypoplasia type 1A	AR
WASHC5	610657	Spastic paraplegia 8, autosomal dominant	AD
WASHC5	610657	Ritscher-Schinzel syndrome 1	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	AR
WDR81	614218	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	AR
WFS1	606201	?Cataract 41	AD
		Wolfram-like syndrome, autosomal dominant	AD
		Wolfram syndrome 1	AR
		Diabetes mellitus, noninsulin-dependent, association with	AD
		Deafness, autosomal dominant 6/14/38	AD
WWOX	605131	Esophageal squamous cell carcinoma, somatic	-
		Developmental and epileptic encephalopathy 28	AR
		Spinocerebellar ataxia, autosomal recessive 12	AR
YARS2	610957	Myopathy, lactic acidosis, and sideroblastic anemia 2	AR
ZFYVE26	612012	Spastic paraplegia 15, autosomal recessive	AR
ZFYVE27	610243	Spastic paraplegia 33, autosomal dominant	AD
ZNF423	604557	Joubert syndrome 19	AD, AR
ZNF423	604557	Nephronophthisis 14	AD, AR

Ataxia repeat expansion panel

No. of genes:	13
TAT:	25 days
Coverage:	≥100.00%
Details:	Repeat expansion analysis: ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, CACNA1A, FXN, NOP56, PPP2R2B, TBP

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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:	856
TAT:	15 days
Coverage:	≥99.00% ≥20x

Order now Sample Requirements

Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
AARS1	601065	Trichothiodystrophy 8, nonphotosensitive	AR
		Charcot-Marie-Tooth disease, axonal, type 2N	AD
		Developmental and epileptic encephalopathy 29	AR
		?Leukoencephalopathy, hereditary diffuse, with spheroids 2	AD
AARS2	612035	Combined oxidative phosphorylation deficiency 8	AR
AARS2	612035	Leukoencephalopathy, progressive, with ovarian failure	AR
AASS	605113	Hyperlysinemia	AR
ABAT	137150	GABA-transaminase deficiency	AR
ABCA12	607800	Ichthyosis, congenital, autosomal recessive 4A	AR
ABCA12	607800	Ichthyosis, congenital, autosomal recessive 4B (harlequin)	AR
ABCA3	601615	Surfactant metabolism dysfunction, pulmonary, 3	AR
ABCB11	603201	Cholestasis, benign recurrent intrahepatic, 2	AR
ABCB11	603201	Cholestasis, progressive familial intrahepatic 2	AR
ABCC8	600509	Diabetes mellitus, transient neonatal 2	-
		Diabetes mellitus, noninsulin-dependent	AD
		Hyperinsulinemic hypoglycemia, familial, 1	AD, AR
		Hypoglycemia of infancy, leucine-sensitive	AD
		Diabetes mellitus, permanent neonatal 3, with or without neurologic features	AD, AR
ABCD1	300371	Adrenoleukodystrophy	XLR
ABCD1	300371	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	Mitochondrial 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	AR
ACO2	100850	Infantile cerebellar-retinal degeneration	AR
ACOX1	609751	Peroxisomal acyl-CoA oxidase deficiency	AR
ACOX1	609751	Mitchell syndrome	AD
ACSF3	614245	Combined malonic and methylmalonic aciduria	-
ACTA1	102610	Nemaline myopathy 3, autosomal dominant or recessive	AD, AR
		?Myopathy, scapulohumeroperoneal	AD
		Myopathy, congenital, with fiber-type disproportion 1	AD, AR
		Myopathy, actin, congenital, with cores	AD, AR
		Myopathy, actin, congenital, with excess of thin myofilaments	AD, AR
ACY1	104620	Aminoacylase 1 deficiency	AR
ADA	608958	Adenosine deaminase deficiency, partial	AR, Somatic mosaicism
ADA	608958	Severe combined immunodeficiency due to ADA deficiency	AR, Somatic mosaicism
ADAMTS13	604134	Thrombotic thrombocytopenic purpura, hereditary	AR
ADAMTSL2	612277	Geleophysic dysplasia 1	AR
ADAR	146920	Aicardi-Goutieres syndrome 6	AR
ADAR	146920	Dyschromatosis symmetrica hereditaria	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	AR
AGK	610345	Cataract 38, autosomal recessive	AR
AGL	610860	Glycogen storage disease IIIb	AR
AGL	610860	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	XLR
		Combined oxidative phosphorylation deficiency 6	XLR
		Deafness, X-linked 5	XLR
		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	AD
AKT2	164731	Hypoinsulinemic hypoglycemia with hemihypertrophy	AD
ALAD	125270	Porphyria, acute hepatic	AR
ALAD	125270	Lead poisoning, susceptibility to	AR
ALAS2	301300	Protoporphyria, erythropoietic, X-linked	XL
ALAS2	301300	Anemia, sideroblastic, 1	XLR
ALDH18A1	138250	Cutis laxa, autosomal dominant 3	AD
		Cutis laxa, autosomal recessive, type IIIA	AR
		Spastic paraplegia 9B, autosomal recessive	AR
		Spastic paraplegia 9A, autosomal dominant	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	XL
ALG13	300776	Developmental and epileptic encephalopathy 36	XL
ALG14	612866	Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies	AR
		?Myasthenic syndrome, congenital, 15, without tubular aggregates	AR
		Myopathy, epilepsy, and progressive cerebral atrophy	AR
ALG2	607905	?Congenital disorder of glycosylation, type Ii	AR
ALG2	607905	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	AD
ALG8	608103	Congenital disorder of glycosylation, type Ih	AR
ALG9	606941	Congenital disorder of glycosylation, type Il	AR
ALG9	606941	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	AR
		Odontohypophosphatasia	AD, AR
		Hypophosphatasia, childhood	AR
		Hypophosphatasia, adult	AD, AR
ALS2	606352	Amyotrophic lateral sclerosis 2, juvenile	AR
		Spastic paralysis, infantile onset ascending	AR
		Primary lateral sclerosis, juvenile	AR
AMACR	604489	Bile acid synthesis defect, congenital, 4	AR
AMACR	604489	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	AD
ANTXR1	606410	GAPO syndrome	AR
ANTXR2	608041	Hyaline fibromatosis syndrome	AR
AP2S1	602242	Hypocalciuric hypercalcemia, type III	AD
AP4B1	607245	Spastic paraplegia 47, autosomal recessive	AR
AP4E1	607244	Stuttering, familial persistent, 1	AD
AP4E1	607244	Spastic paraplegia 51, autosomal recessive	AR
AP4M1	602296	Spastic paraplegia 50, autosomal recessive	AR
AP4S1	607243	Spastic paraplegia 52, autosomal recessive	AR
APOB	107730	Hypobetalipoproteinemia	AR
APOB	107730	Hypercholesterolemia, familial, 2	AD
APTX	606350	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	AR
ARG1	608313	Argininemia	AR
ARL6	608845	Retinitis pigmentosa 55	AR
		Bardet-Biedl syndrome 1, modifier of	AR, DR
		Bardet-Biedl syndrome 3	AR
ARSA	607574	Metachromatic leukodystrophy	AR
ARSB	611542	Mucopolysaccharidosis type VI (Maroteaux-Lamy)	AR
ARX	300382	Developmental and epileptic encephalopathy 1	XLR
		Mental retardation, X-linked 29 and others	XLR
		Hydranencephaly with abnormal genitalia	XL
		Partington syndrome	XLR
		Lissencephaly, X-linked 2	XL
		Proud syndrome	XL
ASAH1	613468	Spinal muscular atrophy with progressive myoclonic epilepsy	AR
ASAH1	613468	Farber lipogranulomatosis	AR
ASL	608310	Argininosuccinic aciduria	AR
ASNS	108370	Asparagine synthetase deficiency	AR
ASPA	608034	Canavan disease	AR
ASPM	605481	Microcephaly 5, primary, autosomal recessive	AR
ASS1	603470	Citrullinemia	AR
ATIC	601731	AICA-ribosiduria due to ATIC deficiency	AR
ATP1A3	182350	Alternating hemiplegia of childhood 2	AD
		Dystonia-12	AD
		Developmental and epileptic encephalopathy 99	AD
		CAPOS syndrome	AD
ATP6V0A2	611716	Cutis laxa, autosomal recessive, type IIA	AR
ATP6V0A2	611716	Wrinkly skin syndrome	AR
ATP6V1B1	192132	Distal renal tubular acidosis 2 with progressive sensorineural hearing loss	AR
ATP7A	300011	Menkes disease	XLR
		Occipital horn syndrome	XLR
		Spinal muscular atrophy, distal, X-linked 3	XLR
ATP7B	606882	Wilson disease	AR
ATP8B1	602397	Cholestasis, progressive familial intrahepatic 1	AR
		Cholestasis, intrahepatic, of pregnancy, 1	AD
		Cholestasis, benign recurrent intrahepatic	AR
ATPAF2	608918	?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	AR
ATR	601215	?Cutaneous telangiectasia and cancer syndrome, familial	AD
ATR	601215	Seckel syndrome 1	AR
ATRX	300032	Mental retardation-hypotonic facies syndrome, X-linked	XLR
		Alpha-thalassemia/mental retardation syndrome	XLD
		Alpha-thalassemia myelodysplasia syndrome, somatic	-
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	AR
		Bjornstad syndrome	AR
		Mitochondrial complex III deficiency, nuclear type 1	AR
BICD2	609797	Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant	AD
BICD2	609797	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	AD
BIN1	601248	Centronuclear myopathy 2	AR
BLNK	604515	?Agammaglobulinemia 4	AR
BOLA3	613183	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	AR
BRAF	164757	Cardiofaciocutaneous syndrome	AD
		Adenocarcinoma of lung, somatic	-
		Noonan syndrome 7	AD
		Colorectal cancer, somatic	-
		Melanoma, malignant, somatic,	-
		LEOPARD syndrome 3	AD
BRAT1	614506	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	AR
BRAT1	614506	Rigidity and multifocal seizure syndrome, lethal neonatal	AR
BRCA2	600185	Prostate cancer	AD, SM
		Breast-ovarian cancer, familial, 2	AD
		Glioblastoma 3	AR
		Wilms tumor	AD, SM
		Pancreatic cancer 2	-
		Breast cancer, male, susceptibility to	AD, SM
		Fanconi anemia, complementation group D1	AR
		Medulloblastoma	AD, AR, SM
BSCL2	606158	Lipodystrophy, congenital generalized, type 2	AR
		Encephalopathy, progressive, with or without lipodystrophy	AR
		Silver spastic paraplegia syndrome	AD
		Neuropathy, distal hereditary motor, type VC	AD
BSND	606412	Bartter syndrome, type 4a	AR
BSND	606412	Sensorineural deafness with mild renal dysfunction	AR
BTD	609019	Biotinidase deficiency	AR
BTK	300300	Agammaglobulinemia, X-linked 1	XLR
BTK	300300	Isolated growth hormone deficiency, type III, with agammaglobulinemia	XLR
CA12	603263	Hyperchlorhidrosis, isolated	AR
CACNA1C	114205	Long QT syndrome 8	AD
		Brugada syndrome 3	-
		Timothy syndrome	AD
CACNB2	600003	Brugada syndrome 4	-
CALM1	114180	Long QT syndrome 14	AD
CALM1	114180	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	XLD
		FG syndrome 4	-
CASR	601199	Epilepsy idiopathic generalized, susceptibility to, 8	-
		Hypocalcemia, autosomal dominant, with Bartter syndrome	AD
		Hypocalciuric hypercalcemia, type I	AD
		Hyperparathyroidism, neonatal	AD, AR
		Hypocalcemia, autosomal dominant	AD
CAST	114090	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	AR
CAV1	601047	Pulmonary hypertension, primary, 3	AD
		Lipodystrophy, familial partial, type 7	AD
		?Lipodystrophy, congenital generalized, type 3	AR
CAV3	601253	Rippling muscle disease 2	AD
		Cardiomyopathy, familial hypertrophic	AD, DD
		Creatine phosphokinase, elevated serum	AD
		Long QT syndrome 9	AD
		Myopathy, distal, Tateyama type	AD
CAVIN1	603198	Lipodystrophy, congenital generalized, type 4	AR
CBS	613381	Thrombosis, hyperhomocysteinemic	AR
CBS	613381	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	AR
CD3D	186790	Immunodeficiency 19	AR
CD3E	186830	Immunodeficiency 18, SCID variant	AR
CD3E	186830	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
CDK5RAP2	608201	Microcephaly 3, primary, autosomal recessive	AR
CDKL5	300203	Developmental and epileptic encephalopathy 2	XLD
CDKN1C	600856	IMAGE syndrome	AD
CDKN1C	600856	Beckwith-Wiedemann syndrome	AD
CENPJ	609279	?Seckel syndrome 4	AR
CENPJ	609279	Microcephaly 6, primary, autosomal recessive	AR
CEP152	613529	Microcephaly 9, primary, autosomal recessive	AR
CEP152	613529	Seckel syndrome 5	AR
CEP290	610142	Leber congenital amaurosis 10	-
		Meckel syndrome 4	AR
		?Bardet-Biedl syndrome 14	AR
		Senior-Loken syndrome 6	AR
		Joubert syndrome 5	AR
CERS3	615276	Ichthyosis, congenital, autosomal recessive 9	AR
CFAP298	615494	Ciliary dyskinesia, primary, 26	AR
CFH	134370	Basal laminar drusen	AD
		Macular degeneration, age-related, 4	-
		Hemolytic uremic syndrome, atypical, susceptibility to, 1	AD, AR
		Complement factor H deficiency	AD, AR
CFHR3	605336	Macular degeneration, age-related, reduced risk of	AD
CFHR3	605336	Hemolytic uremic syndrome, atypical, susceptibility to	AD, AR
CFL2	601443	Nemaline myopathy 7, autosomal recessive	AR
CFTR	602421	Congenital bilateral absence of vas deferens	AR
		Pancreatitis, hereditary	AD
		Bronchiectasis with or without elevated sweat chloride 1, modifier of	AD
		Cystic fibrosis	AR
CHAT	118490	Myasthenic syndrome, congenital, 6, presynaptic	AR
CHD7	608892	CHARGE syndrome	AD
CHD7	608892	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	AD, AR
		Myasthenic syndrome, congenital, 1A, slow-channel	AD
		Multiple pterygium syndrome, lethal type	AR
CHRNB1	100710	Myasthenic syndrome, congenital, 2A, slow-channel	AD
CHRNB1	100710	?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency	AR
CHRND	100720	?Myasthenic syndrome, congenital, 3A, slow-channel	AD
		Myasthenic syndrome, congenital, 3B, fast-channel	AR
		Multiple pterygium syndrome, lethal type	AR
		?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency	AR
CHRNE	100725	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	AR
		Myasthenic syndrome, congenital, 4A, slow-channel	AD, AR
		Myasthenic syndrome, congenital, 4B, fast-channel	AR
CLCN1	118425	Myotonia congenita, dominant	AD
CLCN1	118425	Myotonia congenita, recessive	AR
CLCNKA	602024	Bartter syndrome, type 4b, digenic	DR
CLCNKB	602023	Bartter syndrome, type 3	AR
CLCNKB	602023	Bartter syndrome, type 4b, digenic	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	AR
CLN6	606725	Ceroid lipofuscinosis, neuronal, 6	AR
CLN8	607837	Ceroid lipofuscinosis, neuronal, 8	AR
CLN8	607837	Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant	AR
CLPB	616254	3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia	AR
		3-methylglutaconic aciduria, type VIIA, autosomal dominant	AD
		Neutropenia, severe congenital, 9, autosomal dominant	AD
CNTN1	600016	?Myopathy, congenital, Compton-North	AR
COA5	613920	?Mitochondrial complex IV, deficiency, nuclear type 9	AR
COG1	606973	Congenital disorder of glycosylation, type IIg	AR
COG6	606977	Shaheen syndrome	AR
COG6	606977	Congenital disorder of glycosylation, type IIl	AR
COG7	606978	Congenital disorder of glycosylation, type IIe	AR
COL11A1	120280	Marshall syndrome	AD
		Fibrochondrogenesis 1	AR
		Lumbar disc herniation, susceptibility to	-
		?Deafness, autosomal dominant 37	AD
		Stickler syndrome, type II	AD
COL17A1	113811	Epithelial recurrent erosion dystrophy	AD
		Epidermolysis bullosa, junctional, localisata variant	AR
		Epidermolysis bullosa, junctional, non-Herlitz type	AR
		Epidermolysis bullosa, junctional 4, intermediate	-
COL1A1	120150	Ehlers-Danlos syndrome, arthrochalasia type, 1	AD
		Bone mineral density variation QTL, osteoporosis	AD
		Osteogenesis imperfecta, type III	AD
		Osteogenesis imperfecta, type I	AD
		Caffey disease	AD
		Osteogenesis imperfecta, type IV	AD
		Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1	AD
		Osteogenesis imperfecta, type II	AD
COL1A2	120160	Osteoporosis, postmenopausal	AD
		Ehlers-Danlos syndrome, cardiac valvular type	AR
		Ehlers-Danlos syndrome, arthrochalasia type, 2	AD
		Osteogenesis imperfecta, type III	AD
		Osteogenesis imperfecta, type IV	AD
		Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2	AD
		Osteogenesis imperfecta, type II	AD
COL2A1	120140	Legg-Calve-Perthes disease	AD
		Stickler syndrome, type I	AD
		Osteoarthritis with mild chondrodysplasia	AD
		Platyspondylic skeletal dysplasia, Torrance type	AD
		Spondyloepiphyseal dysplasia, Stanescu type	AD
		Kniest dysplasia	AD
		Czech dysplasia	AD
		Stickler sydrome, type I, nonsyndromic ocular	AD
		?Vitreoretinopathy with phalangeal epiphyseal dysplasia	AD
		?Epiphyseal dysplasia, multiple, with myopia and deafness	AD
		Avascular necrosis of the femoral head	AD
		Spondyloperipheral dysplasia	AD
		Achondrogenesis, type II or hypochondrogenesis	AD
		SMED Strudwick type	AD
		SED congenita	AD
COL3A1	120180	Ehlers-Danlos syndrome, vascular type	AD
COL3A1	120180	Polymicrogyria with or without vascular-type EDS	AR
COL5A2	120190	Ehlers-Danlos syndrome, classic type, 2	AD
COL6A1	120220	Bethlem myopathy 1	AD, AR
COL6A1	120220	Ullrich congenital muscular dystrophy 1	AD, AR
COL6A2	120240	Bethlem myopathy 1	AD, AR
		Ullrich congenital muscular dystrophy 1	AD, AR
		?Myosclerosis, congenital	AR
COL6A3	120250	Dystonia 27	AR
		Ullrich congenital muscular dystrophy 1	AD, AR
		Bethlem myopathy 1	AD, AR
COL7A1	120120	Epidermolysis bullosa dystrophica, AR	AR
		Epidermolysis bullosa dystrophica, AD	AD
		Epidermolysis bullosa pruriginosa	AD, AR
		Transient bullous of the newborn	AD, AR
		Epidermolysis bullosa, pretibial	AD, AR
		Toenail dystrophy, isolated	AD
		EBD, Bart type	AD
		EBD inversa	AR
COLQ	603033	Myasthenic syndrome, congenital, 5	AR
COMP	600310	Carpal tunnel syndrome 2	AD
		Epiphyseal dysplasia, multiple, 1	AD
		Pseudoachondroplasia	AD
COQ2	609825	Coenzyme Q10 deficiency, primary, 1	AR
COQ2	609825	Multiple system atrophy, susceptibility to	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	Mitochondrial complex IV deficiency, nuclear type 3	AR
COX15	603646	Mitochondrial complex IV deficiency, nuclear type 6	AR
COX20	614698	Mitochondrial complex IV deficiency, nuclear type 11	AR
COX6B1	124089	Mitochondrial complex IV deficiency, nuclear type 7	AR
CPS1	608307	Carbamoylphosphate synthetase I deficiency	AR
CPS1	608307	Pulmonary hypertension, neonatal, susceptibility to	-
CPT1A	600528	CPT deficiency, hepatic, type IA	AR
CPT2	600650	CPT II deficiency, myopathic, stress-induced	AD, AR
		CPT II deficiency, infantile	AR
		Encephalopathy, acute, infection-induced, 4, susceptibility to	AD, AR
		CPT II deficiency, lethal neonatal	AR
CR2	120650	Immunodeficiency, common variable, 7	AR
CR2	120650	Systemic lupus erythematosus, susceptibility to, 9	-
CRPPA	614631	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	AR
CRPPA	614631	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	AR