Metabolic Disorders

Diagnosis through genetic testing can strongly help uncover the cause of persistent, often debilitating, undiagnosed symptoms in patients suffering with suspected genetic metabolic disorders. With knowledge of variants in over 1,250 metabolic disease genes, our rapid testing and extensive experience of metabolic disease can help you diagnose and manage your patients’ metabolic disorder quickly and correctly. Ultimately this can provide new insights into treatment options and predict the likelihood of passing the inherited condition on to offspring or the presence of it elsewhere in the family.

Order on Centoportal

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:	843
TAT:	15 days / 10 days (fast option)
Coverage:	≥99.5% ≥20x
Details:	Only next-generation sequencing. CNV analysis not available.

CentoICU® brochure
Download

Overview of genes and associated diseases (OMIM) included in this panel:

Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
AARS1	601065	type 2N Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 29	AD, AR
AARS2	612035	Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure	AR
AASS	605113	Hyperlysinemia	AR
ABAT	137150	GABA-transaminase deficiency	AR
ABCA12	607800	harlequin fetus type of congenital ichthyosis; congenital ichthyosis 4A	AR
ABCA3	601615	surfactant metabolism dysfunction-3	AR
ABCB11	603201	progressive familial intrahepatic cholestasis type 2; benign recurrent intrahepatic cholestasis type 2	AR
ABCC8	600509	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; leucine-sensitive hypoglycemia of infancy; familial hyperinsulinemic hypoglycemia type 1; transient neonatal diabetes mellitus type 2	AD, AR
ABCD1	300371	adrenoleukodystrophy	XLR
ABCD3	170995	congenital bile acid synthesis defect-5	AR
ABCD4	603214	Methylmalonic aciduria and homocystinuria, cblJ type	AR
ACAD8	604773		AR
ACAD9	611103	Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of	AR
ACADM	607008	medium chain acyl-CoA dehydrogenase deficiency	AR
ACADS	606885	short-chain acyl-CoA dehydrogenase deficiency	AR
ACADSB	600301	2-methylbutyrylglycinuria	AR
ACADVL	609575	very long chain acyl-CoA dehydrogenase deficiency	AR
ACAT1	607809	alpha-methylacetoacetic aciduria	AR
ACO2	100850	Infantile cerebellar-retinal degeneration	AR
ACOX1	609751	Peroxisomal acyl-CoA oxidase deficiency	AR
ACSF3	614245	Combined malonic and methylmalonic aciduria
ACTA1	102610	Myopathy, nemaline, 3; Myopathy, congenital, with fiber-type disproportion	AD, AR
ACY1	104620	Aminoacylase 1 deficiency	AR
ADA	608958	Adenosine deaminase deficiency	AR
ADAMTS13	604134	thrombotic thrombocytopenic purpura	AR
ADAMTSL2	612277	Geleophysic dysplasia 1	AR
ADAR	146920	Dyschromatosis symmetrica hereditaria; Aicardi-Goutieres syndrome type 6	AD, AR
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; autosomal recessive cataract type 38	AR
AGL	610860	glycogen storage disease type III	AR
AGPAT2	603100	Lipodystrophy, congenital generalized, type 1	AR
AGPS	603051	rhizomelic chondrodysplasia punctata type 3	AR
AGRN	103320	congenital myasthenic syndrome type 8, with pre- and postsynaptic defects	AR
AGXT	604285	primary hyperoxaluria type 1	AR
AHCY	180960	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	AR
AICDA	605257	Immunodeficiency with hyper-IgM, type 2	AR
AIFM1	300169	Deafness, X-linked 5; Combined oxidative phosphorylation deficiency 6; Cowchock syndrome	XLR
AIMP1	603605	hypomyelinating leukodystrophy-3	AR
AKAP9	604001	long QT syndrome 11	AD
AKR1D1	604741	Bile acid synthesis defect, congenital, 2	AR
AKT2	164731	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Hypoinsulinemic hypoglycemia with hemihypertrophy	AD
ALAD	125270	Acute hepatic porphyria	AR
ALAS2	301300	X-linked sideroblastic anemia; Protoporphyria, erythropoietic, X-linked	XL, XLR
ALDH18A1	138250	Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3	AD, AR
ALDH3A2	609523	Sjogren-Larsson syndrome	AR
ALDH4A1	606811	hyperprolinemia, type II	AR
ALDH5A1	610045	Succinic semialdehyde dehydrogenase deficiency	AR
ALDH6A1	603178	Methylmalonate semialdehyde dehydrogenase deficiency	AR
ALDH7A1	107323	pyridoxine-dependent epilepsy	AR
ALDOA	103850	Glycogen storage disease XII	AR
ALDOB	612724	hereditary fructose intolerance	AR
ALG1	605907	congenital disorder of glycosylation type 1k	AR
ALG11	613666	congenital disorder of glycosylation type 1p	AR
ALG12	607144	congenital disorder of glycosylation type 1g	AR
ALG13	300776	congenital disorder of glycosylation type 1s	XLD
ALG14	612866		AR
ALG2	607905	congenital disorder of glycosylation type 1i	AR
ALG3	608750	congenital disorder of glycosylation type 1d	AR
ALG6	604566	congenital disorder of glycosylation type 1c	AR
ALG8	608103	congenital disorder of glycosylation type 1h	AD, AR
ALG9	606941	Gillessen-Kaesbach-Nishimura syndrome; congenital disorder of glycosylation type 1l	AR
ALOX12B	603741	congenital ichthyosis 2	AR
ALOXE3	607206	Ichthyosis, congenital, autosomal recessive 3	AR
ALPL	171760	adult hypophosphatasia; infantile hypophosphatasia; childhood-onset hypophosphatasia	AD, AR
ALS2	606352	amyotrophic lateral sclerosis 2; Spastic paralysis, infantile onset ascending	AR
AMACR	604489	Alpha-methylacyl-CoA racemase deficiency	AR
AMN	605799		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 type 2	AD
ANKS6	615370	nephronophthisis 16	AR
ANTXR1	606410	Gapo syndrome; Hemangioma, capillary infantile, somatic	AD, AR
ANTXR2	608041	Hyaline fibromatosis syndrome	AR
AP2S1	602242	Hypocalciuric hypercalcemia, familial, type III	AD
AP4B1	607245	spastic paraplegia 47	AR
AP4E1	607244	spastic paraplegia 51	AD, AR
AP4M1	602296	autosomal recessive spastic paraplegia type 50	AR
AP4S1	607243	spastic paraplegia 52	AR
APOB	107730	Hypercholesterolemia, Type B; Hypobetalipoproteinemia	AD, AR
APTX	606350	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	AR
ARG1	608313	Argininemia	AR
ARL6	608845	Bardet-Biedl syndrome type 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55	AR, DiR
ARSA	607574	metachromatic leukodystrophy	AR
ARSB	611542	mucopolysaccharidosis type VI	AR
ARX	300382	Proud syndrome; X-linked lissencephaly-2; ARX- related mental retardation; early infantile epileptic encephalopathy 1; Partington X-Linked Mental Retardation Syndrome	XL, XLR
ASAH1	613468	Spinal muscular atrophy with progressive myoclonic epilepsy; Farber lipogranulomatosis	AR
ASL	608310	argininosuccinic aciduria	AR
ASNS	108370	Asparagine synthetase deficiency	AR
ASPA	608034	Canavan disease	AR
ASPM	605481	primary microcephaly 5	AR
ASS1	603470	citrullinemia	AR
ATIC	601731		AR
ATP1A3	182350	Dystonia 12; Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; Alternating hemiplegia of childhood 2	AD
ATP6V0A2	611716	autosomal recessive cutis laxa type IIA; Wrinkly skin syndrome	AR
ATP6V1B1	192132	Renal tubular acidosis with deafness	AR
ATP7A	300011	X-linked distal spinal muscular atrophy type 3; Occipital horn syndrome; Menkes disease	XLR
ATP7B	606882	Wilson disease	AR
ATP8B1	602397	Cholestasis, intrahepatic, of pregnancy, 1; Cholestasis, Progressive Familial Intrahepatic, 1; Cholestasis, Benign Recurrent Intrahepatic, 1	AD, AR
ATPAF2	608918	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	AR
ATR	601215	Seckel syndrome 1; ?Cutaneous telangiectasia and cancer syndrome, familial	AD, AR
ATRX	300032	Alpha-Thalassemia Myelodysplasia Syndrome; Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked; Mental retardation-hypotonic facies syndrome, X-linked	XLD, XLR
AUH	600529	3-methylglutaconic aciduria, type I	AR
B3GLCT	610308	Peters-plus syndrome	AR
B4GALT1	137060	congenital disorder of glycosylation type 2d	AR
BCAP31	300398	Deafness, dystonia, and cerebral hypomyelination; ddch contiguous abcd1/dxs1375e deletion syndrome, included; cadds, included	XLR
BCKDHA	608348	maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II	AR
BCKDHB	248611	maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II	AR
BCKDK	614901	BCKDK deficiency
BCS1L	603647	Mitochondrial complex III deficiency, nuclear type 1; Leigh syndrome; Bjornstad syndrome; GRACILE syndrome	AR, M
BDNF	113505
BICD2	609797	autosomal dominant lower extremity-predominant spinal muscular atrophy type 2	AD
BIN1	601248	centronuclear myopathy	AR
BLNK	604515	Agammaglobulinemia 4	AR
BOLA3	613183	Multiple mitochondrial dysfunctions syndrome 2	AR
BRAF	164757	Cardiofaciocutaneous Syndrome 1; Lung Cancer; Noonan syndrome 7; LEOPARD syndrome 3	AD
BRAT1	614506	Rigidity and multifocal seizure syndrome, lethal neonatal; neurodevelopmental disorder with cerebellar atrophy and with or without seizures	AR
BRCA2	600185	familial breast-ovarian cancer type 2; Medulloblastoma; Prostate Cancer; Wilms tumor, type 1; Fanconi anemia complementation group D1; pancreatic cancer type 2	AD, AR
BSCL2	606158	Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary motor, type V; Encephalopathy, progressive, with or without lipodystrophy	AD, AR
BSND	606412	Bartter Syndrome type 4A	AR
BTD	609019	biotinidase deficiency	AR
BTK	300300	X-linked agammaglobulinemia	XLR
C12orf65	613541	Combined oxidative phosphorylation deficiency 7	AR
CA12	603263	hyperchlorhidrosis, isolated	AR
CACNA1C	114205	Timothy syndrome; Brugada syndrome 3; Long QT syndrome 8	AD
CACNB2	600003	Brugada syndrome 4
CALM1	114180	Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14	AD
CAMTA1	611501	Cerebellar ataxia, nonprogressive, with mental retardation	AD
CASK	300172	Fg Syndrome 4; Mental retardation and microcephaly with pontine and cerebellar hypoplasia	XLD
CASR	601199	Hypocalciuric hypercalcemia, type I; Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant, with Bartter syndrome; Epilepsy idiopathic generalized, susceptibility to, 8	AD, AR
CAST	114090	peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	AR
CAV1	601047		AD, AR
CAV3	601253	Creatine phosphokinase, elevated serum; familial hypertrophic cardiomyopathy 1; Rippling muscle disease; Rippling muscle disease 2; long QT syndrome 9	AD, DiD
CAVIN1	603198	Lipodystrophy, congenital generalized, type 4	AR
CBS	613381	homocystinuria with or without response to pyridoxine	AR
CCDC103	614677	Ciliary dyskinesia, primary, 17	AR
CCDC114	615038	Ciliary dyskinesia, primary, 20	AR
CCDC78	614666	Myopathy, centronuclear, 4	AD
CD19	107265	Immunodeficiency, common variable, 3	AR
CD247	186780	Immunodeficiency-25	AR
CD320	606475	Methylmalonic aciduria due to transcobalamin receptor defect
CD3D	186790	Immunodeficiency 19	AR
CD3E	186830	Immunodeficiency 18	AR
CD3G	186740		AR
CD40	109535	Immunodeficiency with hyper-IgM, type 3	AR
CD40LG	300386	Immunodeficiency With Hyper-Igm, Type 1	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	congenital dyserythropoietic anemia 1	AR
CDK5RAP2	608201	primary microcephaly 3	AR
CDKL5	300203	early infantile epileptic encephalopathy 2	XLD
CDKN1C	600856	Beckwith-Wiedemann syndrome; IMAGE syndrome	AD
CENPJ	609279	primary microcephaly 6; Seckel syndrome 4	AR
CEP152	613529	Seckel syndrome 5; primary microcephaly 9	AR
CEP290	610142	Joubert syndrome type 5; Senior-Loken syndrome type 6; Meckel syndrome type 4; Leber congenital amaurosis type 10; Bardet-Biedl syndrome type 14	AR
CERS3	615276	Ichthyosis, congenital, autosomal recessive 9	AR
CFAP298	615494	primary ciliary dyskinesia type 26	AR
CFH	134370	atypical hemolytic uremic syndrome 1; Complement factor H deficiency	AD, AR
CFHR3	605336	atypical hemolytic uremic syndrome 1; Macular Degeneration, Age-Related, 1	AD, AR
CFL2	601443	nemaline myopathy type 7	AR
CFTR	602421	hereditary pancreatitis; Bronchiectasis with or without elevated sweat chloride type 1; cystic fibrosis; congenital bilateral absence of vas deferens	AD, AR
CHAT	118490	Presynaptic congenital myasthenic syndrome type 6	AR
CHD7	608892	CHARGE syndrome; hypogonadotropic hypogonadism-5 with or without anosmia	AD
CHKB	612395	Muscular dystrophy, congenital, megaconial type	AR
CHM	300390	Choroideremia	XLD
CHRNA1	100690	Multiple pterygium syndrome, lethal type; Myasthenic syndrome, slow-channel congenital; Myasthenic syndrome, fast-channel congenital	AD, AR
CHRNB1	100710	Myasthenic syndrome, congenital, 2A, slow-channel; Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency	AD, AR
CHRND	100720	Multiple pterygium syndrome, lethal type; slow-channel congenital myasthenic syndrome type 3A; Congenital fast-channel myasthenic syndrome type 3B; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency	AD, AR
CHRNE	100725	slow-channel congenital myasthenic syndrome type 4A; congenital myasthenic syndrome type 4C, associated with acetylcholine receptor deficiency; fast-channel congenital myasthenic syndrome type 4B	AD, AR
CIDEC	612120	Lipodystrophy, familial partial, type 5	AR
CLCN1	118425	myotonia congenita (Thomsen myotonia); myotonia congenita (Becker myotonia)	AD, AR
CLCNKA	602024	Bartter syndrome, type 4b, digenic	DiR
CLCNKB	602023	Bartter syndrome, type 3; Bartter syndrome, type 4b, digenic	AR, DiR
CLDN16	603959	renal hypomagnesemia type 3	AR
CLN3	607042	neuronal ceroid lipofuscinosis type 3	AR
CLN5	608102	neuronal ceroid lipofuscinosis type 5	AR
CLN6	606725	adulte onset neuronal ceroid lipofuscinosis, Kufs type; neuronal ceroid lipofuscinosis type 6	AR
CLN8	607837	neuronal ceroid lipofuscinosis type 8; neuronal ceroid lipofuscinosistype 8, Northern epilepsy variant	AR
CLPB	616254	3-methylglutaconic aciduria type VII with cataracts, neurologic involvement and neutropenia	AR
CNTN1	600016	Myopathy, congenital, Compton-North	AR
COA5	613920		AR
COG1	606973	Congenital disorder of glycosylation, type IIg	AR
COG6	606977	congenital disorder of glycosylation type 2l; Shaheen syndrome	AR
COG7	606978	Congenital disorder of glycosylation, type IIe	AR
COL11A1	120280	Marshall syndrome; Fibrochondrogenesis 1; Stickler syndrome 2	AD, AR
COL17A1	113811	junctional epidermolysis bullosa, non-Herlitz type	AD, AR
COL1A1	120150	Caffey disease; Ehlers-Danlos syndrome arthrochalasia type 1; osteogenesis imperfecta type 1; osteogenesis imperfecta type 2; osteogenesis imperfecta type 4; OSTEOPOROSIS; osteogenesis imperfecta type 3	AD
COL1A2	120160	osteogenesis imperfecta type 2; osteogenesis imperfecta type 4; OSTEOPOROSIS; Ehlers-Danlos syndrome, cardiac valvular form; osteogenesis imperfecta type 3; Ehlers-Danlos syndrome arthrochalasia type 2	AD, AR
COL2A1	120140	Epiphyseal dysplasia, multiple, with myopia and deafness; Legg-Calve-Perthes disease; Platyspondylic skeletal dysplasia, Torrance type; Kniest dysplasia; congenital spondyloepiphyseal dysplasia; SMED Strudwick type; Achondrogenesis, type II or hypochondrogenesis; Spondyloperipheral dysplasia; Osteoarthritis with mild chondrodysplasia; Avascular necrosis of the femoral head; Czech dysplasia; Stickler syndrome type 1; Stanescu type spondyloepiphyseal dysplasia	AD
COL3A1	120180	vascular-type Ehlers-Danlos syndrome	AD, AR
COL5A2	120190	Ehlers-Danlos syndrome classic type 2	AD
COL6A1	120220	Bethlem myopathy type 1; Ullrich congenital muscular dystrophy	AD, AR
COL6A2	120240	Bethlem myopathy type 1; Ullrich congenital muscular dystrophy	AD, AR
COL6A3	120250	Bethlem myopathy type 1; Ullrich congenital muscular dystrophy; dystonia 27	AD, AR
COL7A1	120120	transient bullous dermolysis of the newborn; autosomal dominant epidermolysis bullosa dystrophica; pretibial epidermolysis bullosa dystrophica; epidermiolysis bullosa dystrophica, Bart type; Epidermolysis bullosa dystrophica, AR; Epidermolysis bullosa pruriginosa; nonsyndromic congenital nail disorder type 8	AD, AR
COLQ	603033	congenital myasthenic syndrome type 5	AR
COMP	600310	Epiphyseal Dysplasia, Multiple, 1; Pseudoachondroplasia	AD
COQ2	609825	Multiple system atrophy, susceptibility to; Coenzyme Q10 deficiency, primary, 1	AD, AR
COQ8A	606980	primary Coenzyme Q10 deficiency type 4 - COQ10D4	AR
COQ9	612837	Coenzyme Q10 deficiency, primary, 5	AR
CORO1A	605000		AR
COX10	602125	Mitochondrial complex IV deficiency; Leigh syndrome	AR, M
COX15	603646	Leigh syndrome; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	AR, M
COX20	614698	Mitochondrial complex IV deficiency	AR, M
COX6B1	124089	Mitochondrial complex IV deficiency	AR, M
CPS1	608307	carbamoyl-phosphate synthetase 1 deficiency	AR
CPT1A	600528	hepatic CPT deficiency type IA	AR
CPT2	600650	stress-induced myopathic CPT II deficiency; infantile CPT deficiency; lethal neonatal CPT II deficiency; susceptibility to infection-induced acute encephalopathy type 4	AD, AR
CR2	120650	Systemic Lupus Erythematosus, Susceptibility To, 9; Immunodeficiency, common variable, 7	AR
CRPPA	614631	congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C7	AR
CRTAP	605497	osteogenesis imperfecta type 7	AR
CTNS	606272	ocular nonnephropathic cystinosis; cystinosis; late-onset juvenile or adolescent nephropathic cystinosis	AR
CTPS1	123860		AR
CTSA	613111	galactosialidosis	AR
CTSD	116840	neuronal ceroid lipofuscinosis type 10	AR
CUL4B	300304	MENTAL RETARDATION, X-LINKED 15	XLR
CXCR4	162643	WHIM syndrome	AD
CYP11B1	610613	Glucocorticoid-Remediable Aldosteronism; Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	AD, AR
CYP11B2	124080	congenita hypoaldosteronism due to CMO I deficiency; congenital hypoaldosteronism due to CMO II deficiency	AR
CYP17A1	609300	congenital adrenal hyperplasia due to 17-Alpha-Hydroxylase deficiency	AR
CYP4F22	611495	Ichthyosis, congenital, autosomal recessive 5	AR
CYP7B1	603711	spastic paraplegia 5A	AR
D2HGDH	609186	D-2-Hydroxyglutaric Aciduria 1	AR
DBT	248610	maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II	AR
DCLRE1C	605988	severe combined immunodeficiency, Athabascan type; Omenn syndrome	AR
DDC	107930	Aromatic L-amino acid decarboxylase deficiency	AR
DDOST	602202	Congenital disorder of glycosylation, type Ir	AR
DDR2	191311	Spondylometaepiphyseal dysplasia, short limb-hand type	AD, AR
DEPDC5	614191	Epilepsy, familial focal, with variable foci	AD
DES	125660	Scapuloperoneal syndrome, neurogenic, Kaeser type; Myopathy, myofibrillar, 1; dilated cardiomyopathy-1I	AD, AR
DGUOK	601465	mitochondrial DNA depletion syndrome 3	AR
DHCR24	606418	Desmosterolosis	AR
DHCR7	602858	Smith-Lemli-Opitz syndrome	AR
DIAPH1	602121	Deafness, autosomal dominant 1; Seizures, cortical blindness, microcephaly syndrome	AD, AR
DLAT	608770	Pyruvate dehydrogenase E2 deficiency	AR
DLD	238331	dihydrolipoamide dehydrogenase deficiency	AR
DMD	300377	Becker muscular dystrophy; dilated cardiomyopathy type 3B; Duchenne muscular dystrophy	XL, XLR
DNA2	601810	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6	AD, AR
DNAH11	603339	primary ciliary dyskinesia type 7, with or without situs inversus	AR
DNAH5	603335	primary ciliary dyskinesia type 3, with or without situs inversus
DNAI1	604366	primary ciliary dyskinesia type 1, with or without situs inversus	AR
DNAI2	605483	primary ciliary dyskinesia type 9, with or without situs inversus
DNAJC19	608977	3-methylglutaconic aciduria, type 5	AR
DNM2	602378	Myopathy, centronuclear 1; CHARCOT-MARIE-TOOTH, DOMINANT INTERMEDIATE TYPE B; Lethal congenital contracture syndrome 5	AD, AR
DOCK7	615730	early infantile epileptic encephalopathy 23	AR
DOCK8	611432	Hyper-IgE recurrent infection syndrome, autosomal recessive	AR
DOK7	610285	congenital myasthenic syndrome type 10	AR
DOLK	610746	congenital disorder of glycosylation type 1m	AR
DPAGT1	191350	congenital disorder of glycosylation type 1j; Myasthenic syndrome, congenital, with tubular aggregates 13	AR
DPM2	603564	Congenital disorder of glycosylation, type Iu	AR
DPYD	612779	Dihydropyrimidine dehydrogenase deficiency	AR
DRC1	615288	primary ciliary dyskinesia, 21	AR
DSP	125647	dilated cardiomyopathy with woolly hair and keratoderma; arrhythmogenic right ventricular dysplasia type 8; lethal acantholytic epidermolysis bullosa; Keratosis palmoplantaris striata II; dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis	AD, AR
DST	113810	Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2	AR
DUOX2	606759	hyroid dyshormonogenesis type 6	AR
DUOXA2	612772	Thyroid dyshormonogenesis type 5	AR
DYSF	603009	limb-girdle muscular dystrophy type 2B; Miyoshi muscular dystrophy type 1; distal myopathy with anterior tibial onset	AR
EDN3	131242	congenital central hypoventilation syndrome; Waardenburg syndrome type 4B; Hirschsprung disease 4	AD, AR
EEF1A2	602959	MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; early infantile epileptic encephalopathy type 33	AD
EGR2	129010	Dejerine-Sottas syndrom; congenital hypomyelinating neuropathy; type 1D Charcot-Marie-Tooth disease	AD, AR
EIF2AK3	604032	Wolcott-Rallison syndrome	AR
EIF2B1	606686	leukoencephaly with vanishing white matter	AR
EIF2B2	606454	leukoencephaly with vanishing white matter	AR
EIF2B3	606273	leukoencephaly with vanishing white matter	AR
EIF2B4	606687	leukoencephaly with vanishing white matter	AR
EIF2B5	603945	leukoencephaly with vanishing white matter	AR
ELAC2	605367	Prostate Cancer, Hereditary, 2; Combined oxidative phosphorylation deficiency 17	AR
ELANE	130130	Neutropenia, cyclic; Neutropenia, severe congenital 1, autosomal dominant	AD
ENPP1	173335	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Arterial calcification, generalized, of infancy, 1; OBESITY; Hypophosphatemic rickets, autosomal recessive, 2; Cole disease	AD, AR
EPB42	177070	Spherocytosis, type 5
EPCAM	185535	Diarrhea 5, with tufting enteropathy, congenital; Colorectal cancer, hereditary nonpolyposis, type 8	AR
ETFA	608053	multiple acyl-CoA dehydrogenase deficiency	AR
ETFB	130410	multiple acyl-CoA dehydrogenase deficiency	AR
ETFDH	231675	multiple acyl-CoA dehydrogenase deficiency	AR
ETHE1	608451	ethylmalonic encephalopathy	AR
EVC	604831	Weyers acrofacial dysostosis; Ellis-van Creveld syndrome	AD, AR
EVC2	607261	Weyers acrofacial dysostosis; Ellis-van Creveld syndrome	AD, AR
EXOSC3	606489	pontocerebellar hypoplasia type 1B	AR
EYA1	601653	Branchiootorenal Syndrome 1; Otofaciocervical Syndrome 1; Branchiootic syndrome 1	AD
EYA4	603550	Deafness, autosomal dominant 10; dilated cardiomyopathy-1J	AD
F10	613872	Factor X deficiency	AR
F11	264900	Factor XI deficiency
F13A1	134570	thrombophilia due to thrombin defect; Myocardial infarction, decreased susceptibility to; Factor XIIIA deficiency	AD, AR
F2	176930	thrombophilia due to thrombin defect; susceptibility to ischemic stroke; congenital prothrombin deficiency; susceptibility to recurrent pregnancy loss type 2	AD, AR
F5	612309	thrombophilia due to activated protein C resistance; factor V deficiency; Budd-Chiari syndrome; susceptibility to ischemic stroke; susceptibility to recurrent pregnancy loss type 1	AD, AR
F7	613878	Factor VII Deficiency; Myocardial infarction, decreased susceptibility to	AR
F8	300841	hemophilia A	XLR
F9	300746	X-linked thrombophilia due to factor IX defect; hemophilia B	XL, XLR
FADD	602457	recurrent infections with encephalopathy, hepatic dysfunction and cardiovasuclar malformations	AR
FAH	613871	tyrosinemia type 1	AR
FANCA	607139	Fanconi anemia complementation group A	AR
FANCB	300515	Fanconi anemia of complementation group B	XLR
FANCC	613899	Fanconi anemia of complementation group C	AR
FANCD2	613984	Fanconi anemia of complementation group D2	AR
FANCL	608111	Fanconi anemia of complementation group L	AR
FARS2	611592	Combined oxidative phosphorylation deficiency 14; spastic paraplegia type 77	AR
FASTKD2	612322		AR
FBN1	134797	Marfan syndrome; stiff skin syndrome; Weill-Marchesani syndrome 2; geleophysic dysplasia 2; Marfan lipodystrophy syndrome	AD
FBP1	611570	Fructose-1,6-bidphosphatase deficiency	AR
FBXL4	605654	mitochondrial DNA depletion syndrome 13	AR
FGA	134820	Amyloidosis, familial visceral; Afibrinogenemia, congenital; Dysfibrinogenemia, congenital	AD, AR
FGB	134830	Afibrinogenemia, congenital; Dysfibrinogenemia, congenital	AR
FGFR2	176943	Apert syndrome; Saethre-Chotzen Syndrome; Craniofacial-skeletal-dermatologic dysplasia; Jackson-Weiss syndrome; Crouzon syndrome; Beare-Stevenson cutis gyrata syndrome; Lacrimoauriculodentodigital Syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Scaphocephaly, maxillary retrusion, and mental retardation; Gastric Cancer; Bent bone dysplasia syndrome	AD
FGFR3	134934	Achondroplasia; Bladder Cancer; colorectal cancer; Hypochondroplasia; Lacrimoauriculodentodigital Syndrome; Nevus, Epidermal; Thanatophoric dysplasia, type I; Thanatophoric dysplasia, type II; Spermatocytic seminoma, somatic; Muenke syndrome; Cervical cancer, somatic; CATSHL syndrome; Crouzon syndrome with acanthosis nigricans	AD, AR
FGG	134850	Afibrinogenemia, congenital; Dysfibrinogenemia, congenital	AR
FH	136850	Leiomyomatosis and renal cell cancer; Fumarase deficiency	AD, AR
FIG4	609390	Yunis-Varon syndrome; type 4J Charcot-Marie-Tooth disease; amyotrophic lateral sclerosis 11; Polymicrogyria, bilateral temporooccipital	AD, AR
FKBP14	614505	Ehlers-Danlos syndrome kyphoscoliotic type 2	AR
FKRP	606596	Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B5; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C5; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	AR
FKTN	607440	congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A4; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C4; dilated cardiomyopathy type 1X; congenital muscular dystrophy-dystroglycanopathy without mental retardation type B4	AR
FOXC1	601090	Iridogoniodysgenesis, type 1; Axenfeld-Rieger syndrome, type 3	AD
FOXG1	164874	Rett syndrome, congenital variant	AD
FOXP3	300292	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked	XLR
FOXRED1	613622		AR
FRAS1	607830	Fraser syndrome	AR
FUCA1	612280	fucosidosis	AR
G6PC	613742	glycogen storage disease type IA	AR
G6PD	305900	glucose-6-phosphate dehydrogenase deficiency; resistance to malaria	XLD
GAA	606800	Pompe disease	AR
GALC	606890	Krabbe disease	AR
GALE	606953	Galactose epimerase deficiency	AR
GALK1	604313	galactokinase deficiency	AR
GALNS	612222	mucopolysaccharidosis type IVA	AR
GALT	606999	galactosemia	AR
GAMT	601240	guanidinoacetate methyltransferase deficiency	AR
GAN	605379	giant axonal neuropathy	AR
GARS1	600287	Neuropathy, distal hereditary motor, type V; type 2D Charcot-Marie-Tooth disease	AD
GATA1	305371	X-linked congenital dyserythropoietic anemia with thrombocytopenia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; beta-thalassemia - X-linked thrombocytopenia	XLR
GATM	602360	Cerebral creatine deficiency syndrome 3	AD, AR
GBA	606463	Lewy body dementia; Susceptibility to late-onset Parkinson disease; Gaucher disease type 1; Gaucher disease type 2 (acute); Gaucher disease type 3 (subacute/ chronic); Gaucher disease, cardiovascular form; Gaucher disease, perinatal-lethal form	AD, AR
GBE1	607839	storage disease type 4; Polyglucosan body disease, adult form	AR
GCDH	608801	glutaric academia type I	AR
GCH1	600225	dopa-responsive dystonia; Hyperphenylalaninemia, BH4-deficient, B	AD, AR
GCK	138079	MODY type 2; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Hyperinsulinemic hypoglycemia, familial, 3; permanent neonatal diabetes mellitus	AD, AR
GCSH	238330	glycine encephalopathy	AR
GDAP1	606598	type 4A Charcot-Marie-Tooth disease; type 2K Charcot-Marie-Tooth disease	AD, AR
GFAP	137780	Alexander disease	AD
GFM1	606639	Combined oxidative phosphorylation deficiency 1	AR
GFPT1	138292	congenital myasthenic syndrome with tubular aggregates type 1	AR
GJA1	121014	Oculodentodigital dysplasia	AD, AR
GJB2	121011	Vohwinkel syndrome; keratitis-ichthyosis-deafness syndrome; palmoplantar keratoderma with deafness; Bart-Pumphrey syndrome; nonsyndromic hearing loss; autosomal dominant deafness type 3A; Hystrix-like ichthyosis with deafness	AD, AR, DiD
GJB4	605425	erythrokeratodermia variabilis et progressiva type 2	AD
GK	300474	Glycerol kinase deficiency	XLR
GLA	300644	Fabry disease; Fabry disease, atypical cardiac variant	XL
GLB1	611458	GM1-gangliosidosis; GM1-gangliosidosis type II; GM1-gangliosidosis type III; mucopolysaccharidosis type IVB	AR
GLDC	238300	glycine encephalopathy	AR
GLIS3	610192	Diabetes mellitus, neonatal, with congenital hypothyroidism	AR
GLRA1	138491	Hyperekplexia, hereditary 1, autosomal dominant or recessive	AD, AR
GLRB	138492	Hyperekplexia 2, autosomal recessive	AR
GLUD1	138130	familial hyperinsulinemic hypoglycemia-6	AD
GLYCTK	610516	D-glyceric aciduria	AR
GMPPB	615320	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	AR
GNAS	139320	Pseudohypoparathyroidism Ia; Osseous heteroplasia, progressive; McCune-Albright syndrome, somatic, mosaic; ACTH-independent macronodular adrenal hyperplasia; Pseudohypoparathyroidism type Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism	AD
GNE	603824	Sialuria; Nonaka myopathy	AD, AR
GNMT	606628		AR
GNPAT	602744	rhizomelic chondrodysplasia punctata type 2	AR
GNPTAB	607840	mucolipidosis II alpha/beta; mucolipidosis III alpha/beta	AR
GP1BA	606672	Bernard-Soulier syndrome, type A2 (dominant); platelet type von Willebrand disease; Bernard-Soulier syndrome, type C	AD, AR
GP1BB	138720	Bernard-Soulier syndrome, type C	AR
GP9	173515	Bernard-Soulier syndrome, type C	AR
GPC3	300037	Wilms tumor, type 1; Simpson-Golabi-Behmel syndrome, type 1	XLR
GPHN	603930	Molybdenum cofactor deficiency, complementation group c	AR
GPSM2	609245	Chudley-McCullough syndrome	AR
GSS	601002	Glutathione synthetase deficiency	AR
GUSB	611499	mucopolysaccharidosis type VII	AR
GYS2	138571	Glycogen storage disease 0, liver	AR
HADH	601609	3-hydroxyacyl-CoA dehydrogenase deficiency; familial hyperinsulinemic hypoglycemia type 4	AR
HADHA	600890	mitochondrial trifunctional protein deficiency; long-chain 3-hydroxyl-CoA dehydrogenase deficiency	AR
HADHB	143450	mitochondrial trifunctional protein deficiency	AR
HAMP	606464	Hemochromatosis, type 2B	AR
HAX1	605998	autosomal recessive severe congenital neutropenia type 3	AR
HBA1	141800	Heinz Body Anemias; alpha-Thalassemia; Hemoglobin H Disease	AD
HBA2	141850	Heinz Body Anemias; alpha-Thalassemia; Hemoglobin H Disease	AD
HBB	141900	Heinz Body Anemias; Delta-beta thalassemia; dominantly inherited inclusion body beta-thalassemia; sickle cell anemia; resistance to malaria; beta-thalassemia	AD, AR
HCFC1	300019	mental retardation 3	XLR
HESX1	601802	Septooptic dysplasia	AD, AR
HEXA	606869	Tay-Sachs disease/ GM2-gangliosidosis	AR
HEXB	606873	Sandhoff disease	AR
HGD	607474	Alkaptonuria	AR
HGF	142409	deafness type 39	AR
HIBCH	610690	3-hydroxyisobutryl-CoA hydrolase deficiency	AR
HLCS	609018	Holocarboxylase synthetase deficiency	AR
HMGCL	613898	HMG-CoA lyase deficiency	AR
HMGCS2	600234	HMG-CoA synthase-2 deficiency	AR
HNF1A	142410	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Renal carcinoma, chromophobe, somatic; Diabetes mellitus, insulin-dependent-1; MODY type 3	AD, AR
HNF1B	189907	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; MODY type 5; Renal carcinoma, chromophobe, somatic	AD
HNF4A	600281	MODY type 1; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young	AD
HPD	609695	Tyrosinemia, type III	AD, AR
HPGD	601688	Digital clubbing, isolated congenital; Cranioosteoarthropathy /Hypertrophic osteoarthropathy, primary, autosomal recessive 1	AR
HRAS	190020	Bladder Cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Costello syndrome	AD
HSD17B10	300256	HSD10 mitochondrial disease	XLD
HSD17B4	601860	Perrault syndrome type 1; D-bifunctional protein deficiency	AR
HSD3B2	613890	3-beta-hydroxysteroid dehydrogenase 2 deficiency	AR
HSD3B7	607764	Bile acid synthesis defect, congenital, 1	AR
HSPA9	600548	Sideroblastic anemia type 4	AD, AR
HSPD1	118190	spastic paraplegia 13; hypomyelinating leukodystrophy-4	AD, AR
HSPG2	142461	Silverman-Handmaker type of dyssegmental dysplasia; Schwartz-Jampel syndrome	AR
ICOS	604558	Immunodeficiency, common variable, 1	AR
IDUA	252800	mucopolysaccharidosis type IH; mucopolysaccharidosis type 1; mucopolysaccharidosis type IS	AR
IER3IP1	609382	Microcephaly, epilepsy, and diabetes syndrome	AR
IFIH1	606951	Singleton-Merten syndrome type 1; Aicardi-Goutieres syndrome 7	AD
IFT172	607386	Short-rib thoracic dysplasia 10 with or without polydactyly	AR
IGF1	147440	Insulin-Like Growth Factor I Deficiency	AR
IGF1R	147370	Insulin-like growth factor I, resistance to	AD, AR
IGHMBP2	600502	distal hereditary motor neuronopathy type VI; type 2S Charcot-Marie-Tooth disease	AR
IGLL1	146770	Agammaglobulinemia 2	AR
IKBKB	603258		AD, AR
IL12RB1	601604	Immunodeficiency 30	AR
IL2RA	147730	Diabetes mellitus, insulin-dependent, 10; Immunodeficiency 41 with lymphoproliferation and autoimmunity	AR
IL2RG	308380	Severe X-linked combined immunodeficiency; moderate X-linked combined immunodeficiency	XLR
IL7R	146661	Severe combined imunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK-cell positive	AR
INS	176730	Diabetes Mellitus, Insulin-Dependent, 2; MODY type 10	AD, AR
INSR	147670	Donohue syndrome; Rabson-Mendenhall syndrome; Hyperinsulinemic hypoglycemia, familial, 5; Diabetes mellitus, insulin-resistant, with acanthosis nigricans	AD, AR
INVS	243305	nephronophthisis 2	AR
IRF8	601565	Immunodeficiency 32A, mycobacteriosis, autosomal dominant	AD, AR
ITGA2B	607759	Bleeding disorder, platelet-type, 16, autosomal dominant; Glanzmann thrombasthenia	AD, AR
ITGA6	147556	epidermolysis bullosa with pyloric atresia	AR
ITGA7	600536	Muscular dystrophy, congenital, due to ITGA7 deficiency	AR
ITGB3	173470	Bleeding disorder, platelet-type, 16, autosomal dominant; Glanzmann thrombasthenia; Myocardial infarction, decreased susceptibility to	AD, AR
ITGB4	147557	Epidermolysis bullosa simplex, Weber-Cockayne type; junctional epidermolysis bullosa, non-Herlitz type; epidermolysis bullosa with pyloric atresia	AD, AR
IVD	607036	isovaleric acidemia	AR
JAG1	601920	Alagille syndrome; Tetralogy of Fallot	AD
JAGN1	616012	Neutropenia, severe congenital, 6, autosomal recessive	AR
JAK3	600173	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative	AR
JAM3	606871	Hemorrhagic destruction of the brain, subpendymal calcification, and cataracts	AR
KAT6A	601408	mental retardation- 32	AD
KAT6B	605880	Ohdo syndrome, SBBYS variant; Genitopatellar syndrome	AD
KBTBD13	613727	Nemaline Myopathy 6	AD
KCNE1	176261	Jervell and Lange-Nielsen syndrome 2; long QT syndrome 5	AD, AR
KCNH1	603305	Zimmermann- Laband syndrome 1; Temple-Baraitser syndrome	AD
KCNH2	152427	long QT syndrome 2	AD
KCNJ10	602208	autosomal recessive deafness type 4 with enlarged vestibular aqueduct; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance	AR
KCNJ11	600937	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; familial hyperinsulinemic hypoglycemia type 2; transient neonatal diabetes mellitus type 3; MODY type 13	AD, AR
KCNQ1	607542	long QT syndrome-1; Jervell and Lange-Nielsen syndrome; Atrial fibrillation, familial, 3; Short QT syndrome-2	AD, AR
KCNQ2	602235	benign familial neonatal epilepsy; early-onset epileptic encephalopathy 7	AD
KCNQ3	602232	Seizures, Benign Familial Neonatal, 2	AD
KCNT1	608167	early infantile epileptic encephalopathy 14; nocturnal frontal lobe epilepsy 5	AD
KCTD7	611725	progressive myoclonic epilepsy type 3 with or without intracellular inclusions	AR
KIF1B	605995	type 2A1 Charcot-Marie-Tooth disease; pheochromocytoma	AD
KLF1	600599	Blood group--lutheran inhibitor; Fetal hemoglobin quantitative trait locus 6; Anemia, congenital dyserythropoietic, type iv	AD
KLHL40	615340	Nemaline myopathy 8, autosomal recessive	AR
KLHL41	607701	Nemaline myopathy 9	AR
KLHL7	611119	Retinitis pigmentosa 42; Cold-induced sweating syndrome 3	AD, AR
KRAS	190070	Arteriovenous malformations of the brain; Bladder Cancer; familial breast-ovarian cancer type 2; Gastric Cancer, Hereditary Diffuse; Schimmelpenning-Feuerstein-Mims Syndrome; Lung Cancer; Pancreatic Cancer; acute myeloid leukemia; Noonan syndrome 3; Autoimmune lymphoproliferative syndrome type IV; Cardiofaciocutaneous syndrome 2	AD
KRT5	148040	epidermolysis bullosa simplex, Dowling-Meara type; Epidermolysis bullosa simplex, Weber-Cockayne type; Epidermolysis bullosa simplex, recessive 1	AD, AR
LAMA2	156225	congenital muscular dystrophy type 1A; limb-girdle Muscular dystrophy type 23	AR
LAMA3	600805	junctional epidermolysis bullosa, non-Herlitz type; junctional epidermolysis bullosa, Herlitz-type; laryngoonychocutaneous syndrome	AR
LAMB3	150310	amelogenesis imperfecta type IA; junctional epidermolysis bullosa, non-Herlitz type; junctional epidermolysis bullosa, Herlitz-type	AD, AR
LAMC2	150292	junctional epidermolysis bullosa, non-Herlitz type; junctional epidermolysis bullosa, Herlitz-type	AR
LAMP2	309060	Danon disease	XLD
LAMTOR2	610389		AR
LARS2	604544	Perrault syndrome 4; Hydrops, lactic acidosis, and sideroblastic anemia	AR
LAS1L	300964	Wilson-Turner syndrome	XLR
LCT	603202		AR
LHX3	600577	Pituitary hormone deficiency, combined, 3	AR
LHX4	602146	Pituitary hormone deficiency, combined, 4	AD
LIAS	607031	Pyruvate dehydrogenase lipoic acid synthetase deficiency	AR
LIG4	601837	LIG4 syndrome	AR
LIPA	613497	Wolman disease / cholesteryl ester storage disease	AR
LIPN	613924	Ichthyosis, congenital, autosomal recessive 8	AR
LIPT1	610284	Lipoyltransferase 1 deficiency	AR
LMBRD1	612625	Methylmalonic aciduria and homocystinuria, cblF type	AR
LMNA	150330	dilated cardiomyopathy-1A; Lipodystrophy, familial partial, 2; Hutchinson-Gilford progeria; limb-girdle muscular dystrophy type 1B; Emery-Dreifuss muscular dystrophy 2; Malouf syndrome; Mandibuloacral dysplasia; Restrictive dermopathy, lethal; type 2B1 Charcot-Marie-Tooth disease; Heart-hand syndrome, Slovenian type; Muscular dystrophy, congenital; Emery-Dreifuss muscular dystrophy 3, AR	AD, AR
LPIN1	605518	Myoglobinuria, acute recurrent, autosomal recessive	AR
LRBA	606453	Immunodeficiency, common variable, 8, with autoimmunity	AR
LRPPRC	607544	Leigh syndrome, French-Canadian type	AR
LRRC8A	608360	Agammaglobulinemia 5	AD
MAGEL2	605283	Schaaf-Yang syndrome	AD
MAGT1	300715	Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	XLR
MALT1	604860	Immunodeficiency 12	AR
MAN2B1	609458	alpha-mannosidosis	AR
MANBA	609489	Mannosidosis, Beta A, Lysosomal	AR
MAP2K1	176872	Cardiofaciocutaneous syndrome 3	AD
MAP2K2	601263	Cardiofaciocutaneous syndrome 4	AD
MAT1A	610550	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency	AD, AR
MCCC1	609010	3-Methylcrotonyl-CoA carboxylase 1 deficiency	AR
MCCC2	609014	3-methylcrotonyl-CoA carboxylase 2 deficiency	AR
MCEE	608419	Methylmalonyl-coa epimerase deficiency	AR
MCM4	602638	Natural killer cell and glucocorticoid deficiency with DNA repair defect	AR
MCPH1	607117	primary microcephaly 1	AR
MECP2	300005	MENTAL RETARDATION, X-LINKED 13; X-linked syndromic mental retardation, Lubs type; Autism susceptibility, X-linked 3; severe neonatal encephalopathy; Rett syndrome	XL, XLD, XLR
MED12	300188	Opitz-Kaveggia syndrome /FG syndrome-1; Lujan-Fryns syndrome	XLR
MEF2C	600662	mental retardation- 20	AD
MEGF10	612453	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	AR
MFN2	608507	hereditary motor and sensory neuropathy type VIA with optic atrophy; axonal Charcot-Marie-Tooth disease type 2A2A; axonal Charcot-Marie-Tooth disease type 2A2B	AD, AR
MFSD8	611124	neuronal ceroid lipofuscinosis type 7; macular dystrophy with central cone involvement	AR
MITF	156845	Albinism, Ocular, With Sensorineural Deafness; Tietz Syndrome; Waardenburg syndrome type 2A; Melanoma, Cutaneous Malignant, Susceptibility To, 8	AD, AR
MKKS	604896	McKusick-Kaufman syndrome; Bardet-Biedl syndrome type 6	AR
MLC1	605908	megalencephalic leukoencephalopathy with subcortical cysts type 1	AR
MLYCD	606761	Malonyl-CoA decarboxylase deficiency	AR
MMAA	607481	methylmalonic aciduria (MMA) of the cblA complementation type	AR
MMAB	607568	methylmalonic aciduria (MMA) of the cblB complementation type	AR
MMACHC	609831	Methylmalonic aciduria and homocystinuria, cblC type, digenic type included	AR
MMADHC	611935	methylmalonic aciduria (MMA) of the cblD complementation type	AR
MMUT	609058	complete deficiency of methylmalonyl-CoA mutase	AR
MOCS1	603707	molybdenum cofactor deficiency of complementation group A	AR
MOCS2	603708	molybdenum cofactor deficiency of complementation group B	AR
MPC1	614738		AR
MPI	154550	congenital disorder of glycosylation type 1b	AR
MPL	159530	somatic myelofibrosis with myeloid metaplasia; thrombocythemia type 2; congenital amegakaryocytic thrombocytopenia	AD, AR
MPV17	137960	mitochondrial DNA depletion syndrome type 6	AR
MPZ	159440	type 1B Charcot-Marie-Tooth disease; Dejerine-Sottas syndrom; type 2I Charcot-Marie-Tooth disease; type 2J Charcot-Marie-Tooth disease	AD, AR
MRPL3	607118	Combined oxidative phosphorylation deficiency 9	AR
MRPL44	611849	combined oxidative phosphorylation deficiency type 16	AR
MSMO1	607545	Microcephaly, congenital cataract, and psoriasiform dermatitis	AR
MTHFR	607093	schizophrenia; thrombophilia due to thrombin defect; homocystinuria due to MTHFR deficiency; folate-sensitive neural tube defects	AD, AR
MTM1	300415	X-linked myotubular myopathy	XLR
MTMR14	611089	Myopathy, centronuclear 1	AD
MTO1	614667	Combined oxidative phosphorylation deficiency 10	AR
MTR	156570	homocystinuria-megaloblastic anemia, cblG complementation type; folate-sensitive neural tube defects	AR
MTRR	602568	Homocystinuria-Megaloblastic Anemia, Cble Complementation Type; folate-sensitive neural tube defects	AR
MUSK	601296	Fetal akinesia deformation sequence; myasthenic syndrome, congenital type 9, associated with acetylcholine receptor deficiency	AR
MVK	251170	Porokeratosis 3, Disseminated Superficial Actinic Type; Hyper-IgD syndrome; Mevalonic aciduria	AD, AR
MYCN	164840	Feingold syndrome	AD
MYH9	160775	Fechtner syndrome; Macrothrombocytopenia and progressive sensorineural deafness; May-Hegglin anomaly; Sebastian syndrome; deafness type 17	AD
NAA10	300013	Ogden syndrome; Microphthalmia, syndromic 1	XL, XLD, XLR
NAGA	104170	Schindler disease, type I, III	AR
NAGS	608300	N-acetylglutamate synthase deficiency	AR
NALCN	611549	Hypotonia, infantile, with psychomotor retardation and characteristic facies; Congenital contractures of the limbs and face, hypotonia, and developmental delay	AD, AR
NARS2	612803	Combined oxidative phosphorylation deficiency 24	AR
NBAS	608025	Short stature, optic nerve atrophy, and Pelger-Huet anomaly; Infantile liver failure syndrome type 2	AR
NDUFA1	300078		XLR
NDUFA10	603835		AR
NDUFA11	612638		AR
NDUFA2	602137		AR
NDUFA9	603834		AR
NDUFAF1	606934		AR
NDUFAF2	609653	Mitochondrial complex I deficiency nuclear type 10	AR
NDUFAF3	612911		AR
NDUFAF4	611776		AR
NDUFAF5	612360		AR
NDUFAF6	612392		AR
NDUFB3	603839		AR
NDUFB9	601445		AR
NDUFS1	157655		AR
NDUFS2	602985		AR
NDUFS3	603846		AR
NDUFS4	602694	mitochondrial complex I deficiency	AR
NDUFS6	603848		AR
NDUFS7	601825	Mitochondrial complex I deficiency, nuclear type 3	AR
NDUFV1	161015		AR
NDUFV2	600532		AR
NEB	161650	nemaline myopathy type 2	AR
NEU1	608272	neuraminidase deficiency	AR
NEUROG3	604882	Diarrhea 4, malabsorptive, congenital	AR
NEXN	613121	dilated cardiomyopathy-1CC; familial hypertrophic cardiomyopathy 20	AD
NFKB2	164012	Common variable Immunodeficiency type 10	AD
NFU1	608100	Multiple mitochondrial dysfunctions syndrome 1	AR
NGF	162030	Neuropathy, hereditary sensory and autonomic, type V	AR
NGLY1	610661	Congenital disorder of deglycosylation	AR
NHEJ1	611290	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
NIPAL4	609383	Ichthyosis, congenital, autosomal recessive 6	AR
NIPBL	608667	Cornelia de Lange syndrome 1	AD
NKX2-1	600635	Chorea, Benign Hereditary; Thyroid Carcinoma, Papillary; Choreoathetosis, hypothyroidism, and neonatal respiratory distress	AD
NKX2-5	600584	Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects; Tetralogy of Fallot; Conotruncal Heart Malformations; Hypothyroidism, Congenital, Nongoitrous, 5; Ventricular septal defect 3; Hypoplastic left heart syndrome 2	AD
NLRC4	606831	Autoinflammation with infantile enterocolitis	AD
NLRP3	606416	Familial Cold Autoinflammatory Syndrome 1; Muckle-Wells syndrome; CINCA syndrome	AD
NOTCH2	600275	Hajdu-Cheney syndrome; Alagille syndrome 2	AD
NPC1	607623	Niemann-Pick disease type C/D	AR
NPC2	601015	Niemann-Pick disease type C2	AR
NPHP1	607100	nephronophthisis 1; Joubert syndrome 4	AR
NPHP3	608002	Renal-hepatic-pancreatic dysplasia 1; Meckel syndrome 7; nephronophthisis 3	AR
NR0B1	300473	46XY sex reversal 2, dosage-sensitive; Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism	XL, XLR
NR3C2	600983	Pseudohypoaldosteronism type I, autosomal dominant	AD
NRAS	164790	colorectal cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Neurocutaneous melanosis, somatic; Noonan syndrome 6; Autoimmune lymphoproliferative syndrome type IV	AD
NSD1	606681	Sotos syndrome 1	AD
NSDHL	300275	CK syndrome; CHILD syndrome	XLD, XLR
NUBPL	613621		AR
OAT	613349	Gyrate atrophy of choroid and retina with or without ornithinemia	AR
OCLN	602876	Band-like calcification with simplified gyration and polymicrogyria	AR
OCRL	300535	Dent disease type 2; Lowe oculocerebrorenal syndrome	XLR
OPA3	606580	Optic atrophy type 3 with cataract; 3-methylglutaconic aciduria type III	AD, AR
OPHN1	300127	X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance	XLR
ORC1	601902	Meier-gorlin syndrome 1	AR
ORC4	603056	meier-gorlin syndrom 2	AR
OTC	300461	ornithine transcarbamylase deficiency	XLR
OXCT1	601424	Succinyl CoA:3-oxoacid CoA transferase deficiency	AR
PAFAH1B1	601545	lissencephaly type 1	AD
PAH	612349	phenylketonuria	AR
PAX2	167409	Papillorenal syndrome	AD
PAX3	606597	Waardenburg syndrome, type 3; Waardenburg syndrome type 1	AD, AR
PAX6	607108	Aniridia 1; foveal hypoplasia type 1	AD
PAX8	167415	Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia	AD
PC	608786	pyruvate carboxylase deficiency	AR
PCBD1	126090	Hyperphenylalaninemia, BH4-deficient, D	AR
PCCA	232000	propionic acidemia	AR
PCCB	232050	propionic acidemia	AR
PCDH19	300460	early infantile epileptic encephalopathy type 9	XL
PCNT	605925	microcephalic osteodysplastic primordial dwarfism type 2	AR
PDCD10	609118	Cerebral cavernous malformations 3
PDE10A	610652	Dyskinesia, limb and orofacial, infantile-onset	AD, AR
PDHA1	300502	Pyruvate dehydrogenase E1-alpha deficiency	XLD
PDHB	179060	Pyruvate dehydrogenase E1-beta deficiency
PDHX	608769	Lacticacidemia due to PDX1 deficiency	AR
PDP1	605993	Pyruvate dehydrogenase phosphatase deficiency	AR
PDSS2	610564	Coenzyme Q10 deficiency, primary, 3	AR
PDX1	600733	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Pancreatic Agenesis, Congenital; MODY type 4	AD, AR
PEPD	613230	Prolidase deficiency	AR
PEX1	602136	Peroxisome biogenesis disorder type 1A (Zellweger); Heimler syndrome type 1; peroxisome biogenesis disorder type 1B	AR
PEX10	602859	peroxisome biogenesis disorder 6A (Zellweger); peroxisome biogenesis disorder 6B	AR
PEX12	601758	peroxisome biogenesis disorder type 3B; peroxisome biogenesis disorder type 3A (Zellweger)	AR
PEX13	601789	peroxisome biogenesis disorder 11A (Zellweger); peroxisome biogenesis disorder 11B	AR
PEX14	601791	peroxisome biogenesis disorder 13A (Zellweger)	AR
PEX16	603360	peroxisome biogenesis disorder 8A (Zellweger); Peroxisome biogenesis disorder 8B	AR
PEX19	600279	peroxisome biogenesis disorder 12A (Zellweger)	AR
PEX2	170993	peroxisome biogenesis disorder type 5A (Zellweger); peroxisome biogenesis disorder type 5B	AR
PEX26	608666	peroxisome biogenesis disorder type 7A (Zellweger); peroxisome biogenesis disorder 7B	AR
PEX3	603164	peroxisome biogenesis disorder 10A (Zellweger)	AR
PEX5	600414	peroxisome biogenesis disorder 2B (Zellweger); peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata, type 5	AR
PEX6	601498	peroxisome biogenesis disorder type 4A (Zellweger); peroxisome biogenesis disorder type 4B; Heimler syndrome type 2	AD, AR
PEX7	601757	Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger)	AR
PGAP1	611655	mental retardation 42	AR
PGM1	171900	congenital disorder of glycosylation type 1t	AR
PHGDH	606879	Neu-Laxova syndrome type 1; Phosphoglycerate dehydrogenase deficiency	AR
PHKG2	172471	Glycogen storage disease IXc	AR
PHOX2B	603851	congenital central hypoventilation syndrome	AD
PIGA	311770	Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2	XLR
PIGN	606097	Multiple congenital anomalies-hypotonia-seizures syndrome type 1	AR
PIGT	610272	multiple congenital anomalies-hypotonia-seizures syndrome-3	AD, AR
PIGV	610274	Hyperphosphatasia with mental retardation syndrome type 1	AR
PIK3CD	602839	Immunodeficiency 14	AD
PKD2	173910	polycystic kidney disease type 2	AD
PKHD1	606702	polycystic kidney disease type 4 with or without polycystic liver disease	AR
PKLR	609712	pyruvate kinase deficiency	AD, AR
PLCB4	600810	Auriculocondylar syndrome 2	AD, AR
PLEC	601282	epidermolysis bullosa simplex, Ogna type; epidermolysis bullosa simplex with muscular dystrophy; epidermolysis bullosa simplex with pyloric atresia; limb-girdle muscular dystrophy type 2Q	AD, AR
PLOD1	153454	Ehlers-Danlos syndrome kyphoscoliotic type 1	AR
PLP1	300401	Pelizaeus-Merzbacher disease; spastic paraplegia 2	XLR
PMM2	601785	congenital disorder of glycosylation type 1a	AR
PMP22	601097	type 1A Charcot-Marie-Tooth disease; Dejerine-Sottas syndrom; Neuropathy, recurrent, with pressure palsies	?AD, AD, AR
PNKP	605610	type 2B2 Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 10	AR
PNP	164050	Purine nucleoside phosphorylase deficiency	AR
PNPLA1	612121	Ichthyosis, congenital, autosomal recessive 10	AR
PNPO	603287	Pyridoxamine 5'-phosphate oxidase deficiency	AR
PNPT1	610316	Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70	AR
POGZ	614787	White-Sutton syndrome	AD
POLG	174763	progressive external ophthalmoplegia; mitochondrial DNA depletion syndrome type 4A; autosomal recessive progressive external ophthalmoplegia; sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; mitochondrial DNA depletion syndrome type 4B	AD, AR
POLG2	604983	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	AD, AR
POMGNT1	606822	congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B3; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C3; retinitis pigmentosa type 76	AR
POMGNT2	614828	congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8	AR
POMK	615247	congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A12; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type C12	AR
POMT1	607423	congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C1; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B1	AR
POMT2	607439	congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C2	AR
POU1F1	173110	Pituitary hormone deficiency, combined, 1	AD, AR
PPT1	600722	neuronal ceroid lipofuscinosis type 1	AR
PRDM16	605557	left ventricular noncompaction 8	AD
PRKAG2	602743	Wolff-Parkinson-White syndrome; fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease; familial hypertrophic cardiomyopathy 6	AD
PROC	612283	autosomal dominant thrombophilia due to protein C deficiency; autosomal recessive thrombophilia due to protein C deficiency	AD, AR
PRODH	606810	Hyperprolinemia, type I; susceptibility to Schizophrenia, 4	AD, AR
PROP1	601538	Pituitary hormone deficiency, combined, 2	AR
PROS1	176880	autosomal dominant thrombophilia due to protein S deficiency; autosomal recessive thrombophilia due to protein S deficiency	AD, AR
PRPS1	311850	Phosphoribosylpyrophosphate synthetase superactivity; Arts syndrome; deafness type 1; type X5 Charcot-Marie-Tooth	XL, XLR
PRRT2	614386	Episodic kinesigenic dyskinesia 1; Convulsions, familial infantile, with paroxysmal choreoathetosis; Seizures, benign familial infantile, 2	AD
PSAP	176801	metachromatic leukodystrophy due to SAP-b deficiency; atypical Gaucher disease; Combined SAP deficiency; atypical Krabbe disease	AR
PSAT1	610936	Phosphoserine aminotransferase deficiency; Neu-Laxova syndrome 2	AR
PSPH	172480	Phosphoserine phosphatase deficiency	AR
PTPN11	176876	LEOPARD syndrome 1; Noonan syndrome 1; Leukemia, juvenile myelomonocytic	AD
PTPRC	151460	Severe combined imunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK-cell positive; Hepatitis C Virus, Susceptibility To	AR
PTRH2	608625	infantile-onset multisystem neurologic, endocrine, and pancreatic disease	AR
PTS	612719	Hyperphenylalaninemia, BH4-deficient, A	AR
PURA	600473	mental retardation- 31	AD
QDPR	612676	Hyperphenylalaninemia, BH4-deficient, C	AR
RAB18	602207	Warburg micro syndrome 3	AR
RAB3GAP1	602536	Warburg micro syndrome 1	AR
RAB3GAP2	609275	Martsolf syndrome; Warburg micro syndrome 2	AR
RAC2	602049	Neutrophil immunodeficiency syndrome
RAF1	164760	Noonan syndrome 5; Cardiomyopathy, dilated, 1NN	AD
RAG1	179615	Combined cellular and humoral immune defects with granulomas; t cell-negative, b cell-negative, nk cell-positive autosomal recessive severe combined immunodeficiency; Omenn syndrome; Alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection and autoimmunity	AR
RAG2	179616	Combined cellular and humoral immune defects with granulomas; t cell-negative, b cell-negative, nk cell-positive autosomal recessive severe combined immunodeficiency; Omenn syndrome	AR
RANBP2	601181	acute infection-induced encephalopathy-3	AD
RAPSN	601592	congenital myasthenic syndrome, type 11, associated with acetylcholine receptor deficiency	AR
RARS2	611524	pontocerebellar hypoplasia type 6	AR
RB1	614041	Bladder Cancer; retinoblastoma; Osteogenic Sarcoma	AD
RBBP8	604124	Jawad syndrome / Microcephaly with mental retardation and digital anomalies; Seckel syndrome 2	AR
RBM8A	605313	Thrombocytopenia-absent radius syndrome	AR
RET	164761	Hirschsprung disease; familial medullary thyroid carcinoma; multiple endocrine neoplasia 2B; pheochromocytoma; multiple endocrine neoplasia 2A; congenital central hypoventilation syndrome	AD
RFT1	611908	congenital disorder of glycosylation type 1n	AR
RFX5	601863	MHC class II deficiency, complementation group B	AR
RFX6	612659	Mitchell-Riley syndrome	AR
RIT1	609591	Noonan syndrome 8	AD
RMND1	614917	Combined oxidative phosphorylation deficiency 11	AR
RNASEH2C	610330	Aicardi-Goutieres syndrome 3	AR
RNASET2	612944	Leukoencephalopathy, cystic, without megalencephaly	AR
RORC	602943		AR
RPS19	603474	Diamond-Blackfan anemia 1	AD
RRM2B	604712	mitochondrial DNA depletion syndrome 8A; progressive external ophthalmoplegia with mitochondrial DNA deletions 5	AD, AR
RXYLT1	605862	congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A10	AR
RYR1	180901	central core disease; malignant hyperthermia; minicore myopathy with external ophthalmoplegia	AD, AR
SALL1	602218	Townes-Brocks syndrome	AD
SATB2	608148	SATB2-associated syndrome (SAS) :Glass syndrome	AD
SBDS	607444	Shwachman-Bodian-Diamond syndrome; Aplastic Anemia	AR
SCN1A	182389	generalized epilepsy with febrile seizures plus 2; early infantile epileptic encephalopathy 6; familial hemiplegic migraine-3	AD
SCN2A	182390	benign familial neonatal-infantile seizures type 3; early infantile epileptic encephalopathy 11	AD
SCN4A	603967	Paramyotonia congenita; Hyperkalemic periodic paralysis, type 2; Atypical myotonia congenita, acetazolamide-responsive; Hypokalemic periodic paralysis, type 2; Myasthenic syndrome, acetazolamide-responsive	AD, AR
SCN5A	600163	susceptibility to sudden infant death syndrome; Brugada syndrome 1; dilated cardiomyopathy-1E; long QT syndrome 3; Sick sinus syndrome 1; Familial atrial fibrillation type 10	AD, AR
SCN9A	603415	primary erythermalgia; Paroxysmal extreme pain disorder; INDIFFERENCE TO PAIN, CONGENITAL; generalized epilepsy with febrile seizures plus 7	AD, AR
SCO1	603644	Mitochondrial complex IV deficiency	AR, M
SCO2	604272	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6	AD, AR
SDHA	600857	mitochondrial complex II deficiency; Leigh syndrome; dilated cardiomyopathy-1GG; paragangliomas type 5	AD, AR, M
SDHAF1	612848	mitochondrial complex II deficiency	AR
SELENON	606210	Myopathy, congenital, with fiber-type disproportion; rigid spine syndrome	AD, AR
SERAC1	614725	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL syndrome).	AR
SERPINC1	107300	antithrombin III deficiency	AD, AR
SERPING1	606860	hereditary angioedema type 1	AD, AR
SFTPB	178640	Surfactant metabolism dysfunction, pulmonary, 1	AR
SFTPC	178620	Surfactant metabolism dysfunction, pulmonary, 2	AD
SHOC2	602775	Noonan Syndrome-Like Disorder With Loose Anagen Hair	AD
SIL1	608005	Marinesco-Sjogren syndrome	AR
SIX3	603714	Holoprosencephaly 2; Schizencephaly	AD
SIX5	600963	Branchiootorenal syndrome 2
SKI	164780	Shprintzen-Goldberg Craniosynostosis Syndrome	AD
SLC12A6	604878	Agenesis of the corpus callosum with peripheral neuropathy	AR
SLC16A1	600682	Monocarboxylate transporter 1 deficiency	AD, AR
SLC16A2	300095	Allan-Herndon-Dudley syndrome	XL
SLC17A5	604322	infantile sialic acid storage disorder; Salla disease	AR
SLC19A2	603941	Thiamine-responsive megaloblastic anemia syndrome	AR
SLC19A3	606152	biotin-thiamine-responsive basal ganglia disease	AR
SLC22A5	603377	systemic primary carnitine deficiency	AR
SLC25A1	190315	Combined D-2- and L-2-hydroxyglutaric aciduria	AR
SLC25A12	603667	Epileptic encephalopathy, early infantile, 39	AR
SLC25A13	603859	Citrullinemia, Type Ii, Adult-Onset; Citrullinemia, type II, neonatal-onset	AR
SLC25A15	603861	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	AR
SLC25A19	606521	Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)	AR
SLC25A20	613698	Carnitine-acylcarnitine translocase deficiency	AR
SLC25A22	609302	early infantile epileptic encephalopathy 3	AR
SLC25A3	600370
SLC26A2	606718	Diastrophic dysplasia; multiple epiphyseal dysplasia type 4; Atelosteogenesis type II; Achondrogenesis type IB	AR
SLC26A3	126650	Diarrhea 1, secretory chloride, congenital	AR
SLC2A1	138140	Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility to, 12	AD, AR
SLC30A2	609617		AD
SLC33A1	603690	spastic paraplegia 42; Congenital cataracts, hearing loss, and neurodegeneration	AD, AR
SLC3A1	104614	cystinuria	AD, AR
SLC4A1	109270	Autosomal dominant distal renal tubular acidosis; resistance to malaria; Renal tubular acidosis, distal, with hemolytic anemia; Spherocytosis, type 4	AD, AR
SLC52A1	607883		AD
SLC52A3	613350	Fazio-Londe disease; Brown-Vialetto-Van Laere syndrome 1	AR
SLC5A1	182380	Glucose/galactose malabsorption	AR
SLC5A5	601843	Thyroid dyshormonogenesis 1	AR
SLC6A1	137165	Myoclonic-atonic epilepsy	AD
SLC6A3	126455	Tobacco Addiction, Susceptibility To; Parkinsonism-dystonia, infantile	AR
SLC6A5	604159	Hyperekplexia 3	AD, AR
SLC7A7	603593	Lysinuric protein intolerance	AR
SLC7A9	604144	cystinuria	AD, AR
SLCO1B1	604843	Hyperbilirubinemia, Rotor type, digenic	DiR
SLCO1B3	605495	Hyperbilirubinemia, Rotor type, digenic	DiR
SMPD1	607608	Niemann-Pick disease type A; Niemann-Pick disease type A/B	AR
SNAI2	602150	Piebaldism; Waardenburg syndrome type 2d	AD, AR
SNX10	614780	Osteopetrosis, autosomal recessive 8	AR
SOS1	182530	Noonan syndrome 4	AD
SOX10	602229	PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome, type 4C	AD
SOX2	184429	Microphthalmia, Syndromic 3	AD
SOX9	608160	campomelic dysplasia	AD
SPAST	604277	spastic paraplegia-4	AD
SPEG	615950	centronuclear myopathy type 5	AR
SPINK5	605010	Netherton syndrome	AR
SPINT2	605124		AR
SPR	182125	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	?AD, AR
SPRED1	609291	Legius syndrome	AD
SPTA1	182860	Elliptocytosis type 2; Pyropoikilocytosis; Spherocytosis, type 3	AD, AR
SPTAN1	182810	Epileptic encephalopathy, early infantile, 5	AD
SPTB	182870	Spherocytosis, type 2; Elliptocytosis 3	AD
SRD5A3	611715	congenital disorder of glycosylation type 1q; Kahrizi syndrome	AR
ST3GAL3	606494	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; early infantile epileptic encephalopathy, 15	AR
ST3GAL5	604402	Salt and pepper developmental regression syndrome	AR
STAR	600617	Lipoid adrenal hyperplasia	AR
STAT1	600555	Autosomal recessive Immunodeficiency 31B, mycobacterial and viral infections; Immunodeficiency 31C, autosomal dominant	AD, AR
STAT3	102582	Hyper-IgE recurrent infection syndrome; infantile-onset multisystem autoimmune disease, 1	AD
STIL	181590	primary microcephaly 7	AR
STIM1	605921	Myopathy, tubular aggregate, 1; Immunodeficiency 10	AD, AR
STING1	612374	STING-associated vasculopathy, infantile-onset	AD
STS	300747	ichthyosis	XLR
STT3B	608605	Congenital disorder of glycosylation, type Ix	AR
STXBP1	602926	early infantile epileptic encephalopathy 4	AD
SUCLA2	603921	mitochondrial DNA depletion syndrome 5	AR
SUCLG1	611224	mitochondrial DNA depletion syndrome 9	AR
SUMF1	607939	multiple sulfatase deficiency	AR
SUOX	606887	Sulfite oxidase deficiency	AR
SYNE1	608441	autosomal recessive spinocerebellar ataxia 8; Emery-Dreifuss muscular dystrophy 4	AD, AR
TACO1	612958	Mitochondrial complex IV deficiency	AR, M
TAT	613018	Tyrosinemia type II	AR
TAZ	300394	Barth syndrome	XLR
TBC1D24	613577	DOOR syndrome; Myoclonic epilepsy, infantile, familial; Rolandic epilepsy with proxysmal exercise-induced dystonia and writer's cramp; deafness type 86; Epileptic encephalopathy, early infantile, 16; deafness type 65	AD, AR
TBCE	604934	Hypoparathyroidism-retardation-dysmorphism syndrome(SANJAD-SAKATI SYNDROME)	AR
TBX19	604614	Adrenocorticotropic hormone deficiency	AR
TBX5	601620	Holt-Oram syndrome	AD
TCAP	604488	limb-girdle muscular dystrophy type 2G; cardiomyopathy, familial hypertrophic, 25	AD, AR
TCN2	613441	Transcobalamin II deficiency	AR
TFR2	604720	hemochromatosis type 3	AR
TG	188450	Thyroid dyshormonogenesis 3	AR
TGM1	190195	congenital ichthyosis type 1	AR
TH	191290	Segawa syndrome	AR
THRA	190120	Hypothyroidism, congenital, nongoitrous, 6	AD
TJP2	607709	Hypercholanemia, familial; Cholestasis, progressive familial intrahepatic 4	AR
TMCO1	614123	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	AR
TMEM165	614726	Congenital disorder of glycosylation, type IIk	AR
TMEM70	612418	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2	AR
TNFRSF13B	604907	Immunodeficiency, common variable, 2; Immunoglobulin a deficiency 2	AD, AR
TNFRSF13C	606269	Immunodeficiency, common variable, 4	AR
TNFSF4	603594	Myocardial infarction, decreased susceptibility to
TNNT1	191041	Nemaline myopathy 5, Amish type	AR
TP63	603273	ADULT syndrome; Hay-Wells syndrome; Rapp-Hodgkin syndrome; Limb-mammary syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; Split-hand/foot malformation 4	AD
TPM2	190990	Nemaline myopathy type 4, autosomal dominant	AD
TPM3	191030	Myopathy, congenital, with fiber-type disproportion; Nemaline myopathy 1, autosomal dominant or recessive	AD, AR
TPO	606765	Thyroid dyshormonogenesis 2A	AR
TPP1	607998	neuronal ceroid lipofuscinosis type 2; autosomal recessive spinocerebellar ataxia type 7	AR
TRIP11	604505	Achondrogenesis, type IA	AR
TRMU	610230	Deafness, Aminoglycoside-Induced; Liver Failure, Infantile, Transient	AR, M
TRPV4	605427	Brachyolmia type 3; Metatropic dysplasia; Spondylometaphyseal dysplasia, Kozlowski type; Hereditary motor and sensory neuropathy, type IIc	AD
TSC1	605284	tuberous sclerosis type 1	AD
TSC2	191092	tuberous sclerosis-2	AD
TSFM	604723	Combined oxidative phosphorylation deficiency 3	AR
TSHB	188540	Hypothryoidism, congenital, nongoitrous 4	AR
TSHR	603372	Hypothyroidism, congenital, nongoitrous, 1	AD, AR
TSPYL1	604714		AR
TTC7A	609332	Gastrointestinal defects and immunodeficiency syndrome	AR
TTN	188840	Tibial muscular dystrophy, tardive; Hereditary myopathy with early respiratory failure; dilated cardiomyopathy type 1G; limb-girdle muscular dystrophy type 2J; early-onset myopathy with fatal cardiomyopathy; familial hypertrophic cardiomyopathy type 9	AD, AR
TUBA8	605742	Polymicrogyria with optic nerve hypoplasia	AR
TUBB2A	615101	Cortical dysplasia, complex, with other brain malformations 5	AD
TWNK	606075	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Progressive external ophthalmoplegia, autosomal dominant, 3	AD, AR
UBA1	314370	X-linked infantile spinal muscular atrophy type 2	XLR
UGT1A1	191740	Gilbert syndrome; Crigler-Najjar syndrome type I; familial transient neonatal hyperbilirubinemia; serum level of Bilirubin, QTL1; Crigler-Najjar syndrome type II	AR
UMPS	613891	Orotic aciduria	AR
UNG	191525	Immunodeficiency with hyper IgM, type 5	AR
UPB1	606673	Beta-ureidopropionase deficiency	AR
UQCRC2	191329	Mitochondrial complex III deficiency, nuclear type 5	AR
UROD	613521	hepatoerythropoietic porphyria	AD, AR
UROS	606938	Porphyria, congenital erythropoietic	AR
WAS	300392	Neutropenia, severe congenital, X-linked; Wiskott-Aldrich syndrome; Thrombocytopenia 1	XLR
WDPCP	613580	Bardet-Biedl syndrome 15	AR
WDR62	613583	primary microcephaly 2	AR
WDR73	616144	Galloway syndrome	AR
WFS1	606201	congenital nuclear cataract type 41; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Wolfram syndrome; Deafness, autosomal dominant 6/14/38; Wolfram-like syndrome	AD, AR
WNK1	605232	Neuropathy, hereditary sensory and autonomic, type II; Pseudohypoaldosteronism, type IIC	AD, AR
WT1	607102	Frasier syndrome; Mesothelioma, somatic; Wilms tumor, type 1; Denys-Drash syndrome; Nephrotic syndrome, type 4; Meacham syndrome	AD
ZAP70	176947	Selective T-cell defect	AR
ZEB2	605802	Mowat-Wilson syndrome	AD
ZFP57	612192	Diabetes mellitus, transient neonatal, 1	AD
ZNF423	604557	nephronophthisis 14; Joubert syndrome 19	AD, AR

Common syndromes and disorders covered

Alagille syndrome

Alpha-Thalassemia

Arginase deficiency

Beta-Thalassemia

Biotinidase deficiency

Biotin-thiamine-responsive basal ganglia disease

Carnitine deficiency

Cystic Fibrosis

Dystonia DOPA responsive

Factor VII deficiency

Glucose transporter 1 deficiency

Glutaric acidemia Type 1

Hereditary fructose intolerance

Holocarboxylase synthetase deficiency

Maple syrup urine disease (MSUD)

Non ketotic hyperglicinemia

Phenylketonuria

Pompe disease

Primary coenzyme Q10 deficiency

Pyridoxamine 5 phosphate oxidase deficiency

Pyridoxine-dependent epilepsy

Pyruvate carboxylase deficiency

Tuberous sclerosis complex

Tyrosinemia type I

VLCAD deficiency

*List does not include all disorders covered by our panel

CentoIEM

Inborn Errors of Metabolism largely impact human diseases. CentoIEM includes a large array of different disorders and includes genes responsible for diverse phenotypes, including intermediary metabolism, such as aminoacidopathies, organic acidurias, urea cycle disorders, sugar intolerance, metal disorders, and porphyrias, among others. Cytoplasmic and mitochondrial energetic processes and metabolism affecting cellular organelles, such as lysosomal, peroxisomal, glycosylation, and cholesterol synthesis are also included.

No. of genes:	590
TAT:	25 days
Coverage:	≥99.5% ≥20x
Details:	CNV analysis included

Overview of genes and associated diseases (OMIM) included in this panel:

Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
AARS2	612035	Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure	AR
ABCA1	600046	Tangier disease; HDL deficiency, type 2	AR
ABCB4	171060	gallbladder disease type 1; progressive familial intrahepatic cholestasis type 3; Cholestasis, intrahepatic, of pregnancy, 3	AD, AR
ABCC2	601107	Dubin-Johnson syndrome	AR
ABCC8	600509	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; leucine-sensitive hypoglycemia of infancy; familial hyperinsulinemic hypoglycemia type 1; transient neonatal diabetes mellitus type 2	AD, AR
ABCD1	300371	adrenoleukodystrophy	XLR
ABCD3	170995	congenital bile acid synthesis defect-5	AR
ABCD4	603214	Methylmalonic aciduria and homocystinuria, cblJ type	AR
ACAD8	604773		AR
ACAD9	611103	Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of	AR
ACADM	607008	medium chain acyl-CoA dehydrogenase deficiency	AR
ACADS	606885	short-chain acyl-CoA dehydrogenase deficiency	AR
ACADSB	600301	2-methylbutyrylglycinuria	AR
ACADVL	609575	very long chain acyl-CoA dehydrogenase deficiency	AR
ACAT1	607809	alpha-methylacetoacetic aciduria	AR
ACOX1	609751	Peroxisomal acyl-CoA oxidase deficiency	AR
ACSF3	614245	Combined malonic and methylmalonic aciduria
ACY1	104620	Aminoacylase 1 deficiency	AR
ADA	608958	Adenosine deaminase deficiency	AR
ADAMTSL2	612277	Geleophysic dysplasia 1	AR
ADAR	146920	Dyschromatosis symmetrica hereditaria; Aicardi-Goutieres syndrome type 6	AD, AR
ADGRG1	604110	bilateral frontoparietal polymicrogyria; bilateral perisylvian polymicrogyria	AR
ADK	102750	Hypermethioninemia due to adenosine kinase deficiency	AR
ADSL	608222	Adenylosuccinase deficiency	AR
AFG3L2	604581	spinocerebellar ataxia 28; spastic ataxia 5	AD, AR
AGA	613228	Aspartylglucosaminuria	AR
AGL	610860	glycogen storage disease type III	AR
AGPAT2	603100	Lipodystrophy, congenital generalized, type 1	AR
AGPS	603051	rhizomelic chondrodysplasia punctata type 3	AR
AGXT	604285	primary hyperoxaluria type 1	AR
AHCY	180960	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	AR
AIFM1	300169	Deafness, X-linked 5; Combined oxidative phosphorylation deficiency 6; Cowchock syndrome	XLR
AIMP1	603605	hypomyelinating leukodystrophy-3	AR
AKT2	164731	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Hypoinsulinemic hypoglycemia with hemihypertrophy	AD
ALAD	125270	Acute hepatic porphyria	AR
ALAS2	301300	X-linked sideroblastic anemia; Protoporphyria, erythropoietic, X-linked	XL, XLR
ALDH3A2	609523	Sjogren-Larsson syndrome	AR
ALDH4A1	606811	hyperprolinemia, type II	AR
ALDH5A1	610045	Succinic semialdehyde dehydrogenase deficiency	AR
ALDH7A1	107323	pyridoxine-dependent epilepsy	AR
ALDOA	103850	Glycogen storage disease XII	AR
ALDOB	612724	hereditary fructose intolerance	AR
ALG1	605907	congenital disorder of glycosylation type 1k	AR
ALG11	613666	congenital disorder of glycosylation type 1p	AR
ALG12	607144	congenital disorder of glycosylation type 1g	AR
ALG13	300776	congenital disorder of glycosylation type 1s	XLD
ALG2	607905	congenital disorder of glycosylation type 1i	AR
ALG3	608750	congenital disorder of glycosylation type 1d	AR
ALG6	604566	congenital disorder of glycosylation type 1c	AR
ALG8	608103	congenital disorder of glycosylation type 1h	AD, AR
ALG9	606941	Gillessen-Kaesbach-Nishimura syndrome; congenital disorder of glycosylation type 1l	AR
ALPL	171760	adult hypophosphatasia; infantile hypophosphatasia; childhood-onset hypophosphatasia	AD, AR
AMN	605799		AR
AMT	238310	glycine encephalopathy	AR
ANK1	612641	Spherocytosis, type 1	AD, AR
ANTXR2	608041	Hyaline fibromatosis syndrome	AR
AP3B1	603401	Hermansky-Pudlak syndrome type 2	AR
AP4B1	607245	spastic paraplegia 47	AR
AP4E1	607244	spastic paraplegia 51	AD, AR
AP4M1	602296	autosomal recessive spastic paraplegia type 50	AR
AP4S1	607243	spastic paraplegia 52	AR
APOA5	606368	HYPERLIPOPROTEINEMIA, TYPE V; Hypertriglyceridemia, susceptibility to	AD
APOB	107730	Hypercholesterolemia, Type B; Hypobetalipoproteinemia	AD, AR
APOC2	608083	Apolipoprotein C-Ii Deficiency	AR
APOE	107741	Alzheimer Disease 2; Sea-blue histiocyte disease; Macular Degeneration, Age-Related, 1; early-onset familial Alzheimer disease-3; Lipoprotein glomerulopathy	AD, AR
APP	104760	Alzheimer Disease; Cerebral Amyloid Angiopathy, App-Related	AD
APTX	606350	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	AR
ARG1	608313	Argininemia	AR
ARSA	607574	metachromatic leukodystrophy	AR
ARSB	611542	mucopolysaccharidosis type VI	AR
ASAH1	613468	Spinal muscular atrophy with progressive myoclonic epilepsy; Farber lipogranulomatosis	AR
ASL	608310	argininosuccinic aciduria	AR
ASPA	608034	Canavan disease	AR
ASS1	603470	citrullinemia	AR
ATM	607585	familial breast-ovarian cancer type 2; ataxia-telangiectasia	AD, AR
ATP13A2	610513	Kufor-Rakeb syndrome; spastic paraplegia type 78	AR
ATP6V0A2	611716	autosomal recessive cutis laxa type IIA; Wrinkly skin syndrome	AR
ATP7A	300011	X-linked distal spinal muscular atrophy type 3; Occipital horn syndrome; Menkes disease	XLR
ATP7B	606882	Wilson disease	AR
ATPAF2	608918	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	AR
AUH	600529	3-methylglutaconic aciduria, type I	AR
B3GALNT2	610194	congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11	AR
B4GALT1	137060	congenital disorder of glycosylation type 2d	AR
BCAP31	300398	Deafness, dystonia, and cerebral hypomyelination; ddch contiguous abcd1/dxs1375e deletion syndrome, included; cadds, included	XLR
BCKDHA	608348	maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II	AR
BCKDHB	248611	maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II	AR
BCS1L	603647	Mitochondrial complex III deficiency, nuclear type 1; Leigh syndrome; Bjornstad syndrome; GRACILE syndrome	AR, M
BEST1	607854	vitelliform macular dystrophy-2; vitreoretinochoroidopathy; Bestrophinopathy, autosomal recessive; Retinitis pigmentosa 50	AD
BLK	191305	MODY type 11	AD
BOLA3	613183	Multiple mitochondrial dysfunctions syndrome 2	AR
BRAT1	614506	Rigidity and multifocal seizure syndrome, lethal neonatal; neurodevelopmental disorder with cerebellar atrophy and with or without seizures	AR
BSCL2	606158	Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary motor, type V; Encephalopathy, progressive, with or without lipodystrophy	AD, AR
BTD	609019	biotinidase deficiency	AR
C12orf65	613541	Combined oxidative phosphorylation deficiency 7	AR
C19orf12	614297	neurodegeneration with brain iron accumulation 4; spastic paraplegia 43	AD, AR
CA5A	114761	Hyperammonemia due to carbonic anhydrase VA deficiency	AR
CASP10	601762	Autoimmune lymphoproliferative syndrome, type II; Lymphoma, non-Hodgkin; Gastric Cancer	AD
CASP8	601763	familial breast-ovarian cancer type 2; Hepatocellular Carcinoma; Lung Cancer	AD, AR
CAV1	601047		AD, AR
CAVIN1	603198	Lipodystrophy, congenital generalized, type 4	AR
CBLIF	609342	Intrinsic factor deficiency	AR
CBS	613381	homocystinuria with or without response to pyridoxine	AR
CD320	606475	Methylmalonic aciduria due to transcobalamin receptor defect
CEL	114840	MODY type 8	AD
CERS1	606919	Progressive myoclonic epilepsy-8	AR
CIDEC	612120	Lipodystrophy, familial partial, type 5	AR
CISD2	611507	Wolfram syndrome 2	AR
CLCN2	600570	Epilepsy, Idiopathic Generalized, Susceptibility To, 11; Leukoencephalopathy with ataxia	AD, AR
CLN3	607042	neuronal ceroid lipofuscinosis type 3	AR
CLN5	608102	neuronal ceroid lipofuscinosis type 5	AR
CLN6	606725	adulte onset neuronal ceroid lipofuscinosis, Kufs type; neuronal ceroid lipofuscinosis type 6	AR
CLN8	607837	neuronal ceroid lipofuscinosis type 8; neuronal ceroid lipofuscinosistype 8, Northern epilepsy variant	AR
CLPB	616254	3-methylglutaconic aciduria type VII with cataracts, neurologic involvement and neutropenia	AR
CLPP	601119	Perrault syndrome 3	AR
COA8	616003	Mitochondrial complex IV deficiency	AR, M
COASY	609855	Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia type 12	AR
COG1	606973	Congenital disorder of glycosylation, type IIg	AR
COG4	606976	congenital disorder of glycosylation type 2j; Saul-Wilson syndrome	AD, AR
COG5	606821	Congenital disorder of glycosylation, type IIi	AR
COG6	606977	congenital disorder of glycosylation type 2l; Shaheen syndrome	AR
COG7	606978	Congenital disorder of glycosylation, type IIe	AR
COG8	606979	congenital disorder of glycosylation type 2h
COL11A2	120290	Stickler syndrome, type III; Otospondylomegaepiphyseal dysplasia; Deafness, autosomal dominant 13; Deafness, autosomal recessive 53; Fibrochondrogenesis 2	AD, AR
COL2A1	120140	Epiphyseal dysplasia, multiple, with myopia and deafness; Legg-Calve-Perthes disease; Platyspondylic skeletal dysplasia, Torrance type; Kniest dysplasia; congenital spondyloepiphyseal dysplasia; SMED Strudwick type; Achondrogenesis, type II or hypochondrogenesis; Spondyloperipheral dysplasia; Osteoarthritis with mild chondrodysplasia; Avascular necrosis of the femoral head; Czech dysplasia; Stickler syndrome type 1; Stanescu type spondyloepiphyseal dysplasia	AD
COL4A1	120130	porencephaly 1; Brain small vessel disease with or without ocular anomalies; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Hemorrhage, intracerebral, susceptibility to	AD
COL4A2	120090	Brain small vessel disease type 2; Hemorrhage, intracerebral, susceptibility to	AD
COQ2	609825	Multiple system atrophy, susceptibility to; Coenzyme Q10 deficiency, primary, 1	AD, AR
COQ8A	606980	primary Coenzyme Q10 deficiency type 4 - COQ10D4	AR
COQ9	612837	Coenzyme Q10 deficiency, primary, 5	AR
COX10	602125	Mitochondrial complex IV deficiency; Leigh syndrome	AR, M
COX15	603646	Leigh syndrome; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	AR, M
COX20	614698	Mitochondrial complex IV deficiency	AR, M
COX6B1	124089	Mitochondrial complex IV deficiency	AR, M
CP	117700	aceruloplasminemia	AR
CPOX	612732	Coproporphyria, hereditary	AD, AR
CPS1	608307	carbamoyl-phosphate synthetase 1 deficiency	AR
CPT1A	600528	hepatic CPT deficiency type IA	AR
CPT2	600650	stress-induced myopathic CPT II deficiency; infantile CPT deficiency; lethal neonatal CPT II deficiency; susceptibility to infection-induced acute encephalopathy type 4	AD, AR
CSF1R	164770	hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia	AD, AR
CTC1	613129	Cerebroretinal microangiopathy with calcifications and cysts	AR
CTH	607657	Cystathioninuria	AR
CTLA4	123890	systemic lupus erythematosus; Autoimmune lymphoproliferative syndrome, type V	AD
CTNS	606272	ocular nonnephropathic cystinosis; cystinosis; late-onset juvenile or adolescent nephropathic cystinosis	AR
CTSA	613111	galactosialidosis	AR
CTSC	602365	Papillon-Lefevre syndrome	AR
CTSD	116840	neuronal ceroid lipofuscinosis type 10	AR
CTSF	603539	neuronal ceroid lipofuscinosis type 13	AR
CTSK	601105	pycnodysostosis	AR
CUBN	602997	megaloblastic anemia 1	AR
CYP11B1	610613	Glucocorticoid-Remediable Aldosteronism; Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	AD, AR
CYP17A1	609300	congenital adrenal hyperplasia due to 17-Alpha-Hydroxylase deficiency	AR
CYP19A1	107910	Aromatase excess syndrome; Aromatase deficiency	AD
CYP21A2	613815	congenital adrenal hyperplasia type 1	AR
CYP27A1	606530	cerebrotendinous xanthomatosis	AR
CYP2U1	610670	spastic paraplegia 56	AR
CYP7B1	603711	spastic paraplegia 5A	AR
D2HGDH	609186	D-2-Hydroxyglutaric Aciduria 1	AR
DAG1	128239	congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type C9	AR
DARS2	610956	leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	AR
DBT	248610	maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II	AR
DCAF17	612515	Woodhouse-Sakati syndrome	AR
DDC	107930	Aromatic L-amino acid decarboxylase deficiency	AR
DDOST	602202	Congenital disorder of glycosylation, type Ir	AR
DGUOK	601465	mitochondrial DNA depletion syndrome 3	AR
DHCR7	602858	Smith-Lemli-Opitz syndrome	AR
DHDDS	608172	retinitis pigmentosa type 59; Developmental delay and seizures with or without movement abnormalities	AD, AR
DIABLO	605219	Deafness, autosomal dominant 64	AD
DKC1	300126	X-linked dyskeratosis congenita	XLR
DLAT	608770	Pyruvate dehydrogenase E2 deficiency	AR
DLD	238331	dihydrolipoamide dehydrogenase deficiency	AR
DNAJC5	611203	neuronal ceroid lipofuscinosis type 4, Parry type	AD
DNM1L	603850	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission	AD, AR
DOLK	610746	congenital disorder of glycosylation type 1m	AR
DPM1	603503	Congenital disorder of glycosylation, type Ie	AR
DPM2	603564	Congenital disorder of glycosylation, type Iu	AR
DPM3	605951	congenital disorder of glycosylation, type Io	AR
DPYD	612779	Dihydropyrimidine dehydrogenase deficiency	AR
DYM	607461	Dyggve-Melchior-Clausen disease	AR
EARS2	612799	Combined oxidative phosphorylation deficiency 12	AR
ECHS1	602292	mitochondrial short-chain enoyl-CoA hydratase 1 deficiency	AR
EIF2AK3	604032	Wolcott-Rallison syndrome	AR
EIF2B1	606686	leukoencephaly with vanishing white matter	AR
EIF2B2	606454	leukoencephaly with vanishing white matter	AR
EIF2B3	606273	leukoencephaly with vanishing white matter	AR
EIF2B4	606687	leukoencephaly with vanishing white matter	AR
EIF2B5	603945	leukoencephaly with vanishing white matter	AR
ENO3	131370	Glycogen storage disease XIII	AR
ENPP1	173335	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Arterial calcification, generalized, of infancy, 1; OBESITY; Hypophosphatemic rickets, autosomal recessive, 2; Cole disease	AD, AR
EPB42	177070	Spherocytosis, type 5
EPHX2	132811	familial hypercholesterolemia	AD
EPM2A	607566	Epilepsy, progressive myoclonic 2A (Lafora); Epilepsy, progressive myoclonic 2B (Lafora)	AR
ERCC6	609413	Cockayne syndrome, type B; Lung Cancer; Cerebrooculofacioskeletal syndrome 1	AD, AR
ETFA	608053	multiple acyl-CoA dehydrogenase deficiency	AR
ETFB	130410	multiple acyl-CoA dehydrogenase deficiency	AR
ETFDH	231675	multiple acyl-CoA dehydrogenase deficiency	AR
ETHE1	608451	ethylmalonic encephalopathy	AR
F2	176930	thrombophilia due to thrombin defect; susceptibility to ischemic stroke; congenital prothrombin deficiency; susceptibility to recurrent pregnancy loss type 2	AD, AR
F5	612309	thrombophilia due to activated protein C resistance; factor V deficiency; Budd-Chiari syndrome; susceptibility to ischemic stroke; susceptibility to recurrent pregnancy loss type 1	AD, AR
FA2H	611026	spastic paraplegia 35	AR
FADD	602457	recurrent infections with encephalopathy, hepatic dysfunction and cardiovasuclar malformations	AR
FAH	613871	tyrosinemia type 1	AR
FAM126A	610531	hypomyelinating leukodystrophy-5	AR
FARS2	611592	Combined oxidative phosphorylation deficiency 14; spastic paraplegia type 77	AR
FAS	134637	Autoimmune lymphoproliferative syndrome	AD
FASLG	134638	Lung Cancer; Autoimmune lymphoproliferative syndrome	AD
FASTKD2	612322		AR
FBN1	134797	Marfan syndrome; stiff skin syndrome; Weill-Marchesani syndrome 2; geleophysic dysplasia 2; Marfan lipodystrophy syndrome	AD
FBP1	611570	Fructose-1,6-bidphosphatase deficiency	AR
FBXL4	605654	mitochondrial DNA depletion syndrome 13	AR
FECH	612386	Protoporphyria, erythropoietic, autosomal recessive	AR
FGF23	605380	Hypophosphatemic rickets, autosomal dominant	AD, AR
FH	136850	Leiomyomatosis and renal cell cancer; Fumarase deficiency	AD, AR
FHL1	300163	Scapuloperoneal myopathy, X-linked dominant; Myopathy, X-linked, with postural muscle atrophy; Emery-Dreifuss muscular dystrophy 6; Myopathy, Reducing Body, X-Linked, Early-Onset, Severe; Myopathy, reducing body, X-linked, childhood-onset	XL, XLD, XLR
FOLR1	136430	cerebral folate transport deficiency	AR
FOXP3	300292	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked	XLR
FOXRED1	613622		AR
FTL	134790	Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3	AD, AR
FUCA1	612280	fucosidosis	AR
G6PC	613742	glycogen storage disease type IA	AR
G6PD	305900	glucose-6-phosphate dehydrogenase deficiency; resistance to malaria	XLD
GAA	606800	Pompe disease	AR
GALC	606890	Krabbe disease	AR
GALE	606953	Galactose epimerase deficiency	AR
GALK1	604313	galactokinase deficiency	AR
GALNS	612222	mucopolysaccharidosis type IVA	AR
GALT	606999	galactosemia	AR
GAMT	601240	guanidinoacetate methyltransferase deficiency	AR
GAN	605379	giant axonal neuropathy	AR
GATA6	601656	Tetralogy of Fallot; Conotruncal Heart Malformations; Pancreatic agenesis and congenital heart defects; Atrioventricular septal defect 5; Atrial septal defect 9	AD
GATM	602360	Cerebral creatine deficiency syndrome 3	AD, AR
GBA	606463	Lewy body dementia; Susceptibility to late-onset Parkinson disease; Gaucher disease type 1; Gaucher disease type 2 (acute); Gaucher disease type 3 (subacute/ chronic); Gaucher disease, cardiovascular form; Gaucher disease, perinatal-lethal form	AD, AR
GBE1	607839	storage disease type 4; Polyglucosan body disease, adult form	AR
GCDH	608801	glutaric academia type I	AR
GCK	138079	MODY type 2; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Hyperinsulinemic hypoglycemia, familial, 3; permanent neonatal diabetes mellitus	AD, AR
GCSH	238330	glycine encephalopathy	AR
GFAP	137780	Alexander disease	AD
GFER	600924	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
GFM1	606639	Combined oxidative phosphorylation deficiency 1	AR
GFM2	606544		AR
GFPT1	138292	congenital myasthenic syndrome with tubular aggregates type 1	AR
GHR	600946	familial hypercholesterolemia; Laron syndrome; Increased responsiveness to growth hormone	AD, AR
GJA1	121014	Oculodentodigital dysplasia	AD, AR
GJB1	304040	Charcot-Marie-Tooth disease type 1	XLD
GJC2	608803	Leukodystrophy, hypomyelinating, 2; spastic paraplegia 44	AD, AR
GK	300474	Glycerol kinase deficiency	XLR
GLA	300644	Fabry disease; Fabry disease, atypical cardiac variant	XL
GLB1	611458	GM1-gangliosidosis; GM1-gangliosidosis type II; GM1-gangliosidosis type III; mucopolysaccharidosis type IVB	AR
GLDC	238300	glycine encephalopathy	AR
GLIS3	610192	Diabetes mellitus, neonatal, with congenital hypothyroidism	AR
GLRX5	609588	Anemia, sideroblastic, 3, pyridoxine-refractory	AR
GLUD1	138130	familial hyperinsulinemic hypoglycemia-6	AD
GLUL	138290	Glutamine deficiency, congenital	AR
GM2A	613109	GM2-gangliosidosis, AB variant	AR
GMPPA	615495	Alacrima, achalasia, and mental retardation syndrome	AR
GNE	603824	Sialuria; Nonaka myopathy	AD, AR
GNMT	606628		AR
GNPAT	602744	rhizomelic chondrodysplasia punctata type 2	AR
GNPTAB	607840	mucolipidosis II alpha/beta; mucolipidosis III alpha/beta	AR
GNPTG	607838	mucolipidosis III gamma	AR
GNS	607664	mucopolysaccharidosis type IIID	AR
GOSR2	604027	Epilepsy, progressive myoclonic 6	AR
GPC3	300037	Wilms tumor, type 1; Simpson-Golabi-Behmel syndrome, type 1	XLR
GRN	138945	frontotemporal lobar degeneration with ubiquitin-positive inclusions; neuronal ceroid lipofuscinosis type 11	AD, AR
GTPBP3	608536	Combined oxidative phosphorylation deficiency 23	AR
GUSB	611499	mucopolysaccharidosis type VII	AR
GYG1	603942	Glycogen storage disease XV; Polyglucosan body myopathy 2	AR
GYS1	138570	Glycogen storage disease 0, muscle	AR
GYS2	138571	Glycogen storage disease 0, liver	AR
HADH	601609	3-hydroxyacyl-CoA dehydrogenase deficiency; familial hyperinsulinemic hypoglycemia type 4	AR
HADHA	600890	mitochondrial trifunctional protein deficiency; long-chain 3-hydroxyl-CoA dehydrogenase deficiency	AR
HADHB	143450	mitochondrial trifunctional protein deficiency	AR
HAMP	606464	Hemochromatosis, type 2B	AR
HCFC1	300019	mental retardation 3	XLR
HEPACAM	611642	megalencephalic leukoencephalopathy with subcortical cysts type 2A; megalencephalic leukoencephalopathy with subcortical cysts type 2B, remitting, with or without mental retardation	AD, AR
HEXA	606869	Tay-Sachs disease/ GM2-gangliosidosis	AR
HEXB	606873	Sandhoff disease	AR
HFE	613609	Alzheimer Disease; hepatoerythropoietic porphyria; variegate porphyria; hemochromatosis type 1; susceptibility to microvascular complications of diabetes type 7; Transferrin serum level QTL2	AD, AR
HGD	607474	Alkaptonuria	AR
HGSNAT	610453	mucopolysaccharidosis type IIIC; retinitis pigmentosa type 73	AR
HIBCH	610690	3-hydroxyisobutryl-CoA hydrolase deficiency	AR
HJV	608374	hemochromatosis type 2A	AR
HLCS	609018	Holocarboxylase synthetase deficiency	AR
HMBS	609806	acute intermittent porphyria	AD
HMGCL	613898	HMG-CoA lyase deficiency	AR
HMGCS2	600234	HMG-CoA synthase-2 deficiency	AR
HNF1A	142410	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Renal carcinoma, chromophobe, somatic; Diabetes mellitus, insulin-dependent-1; MODY type 3	AD, AR
HNF1B	189907	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; MODY type 5; Renal carcinoma, chromophobe, somatic	AD
HNF4A	600281	MODY type 1; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young	AD
HPD	609695	Tyrosinemia, type III	AD, AR
HPRT1	308000	Lesch-Nyhan syndrome; Kelley-Seegmiller syndrome	XLR
HRAS	190020	Bladder Cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Costello syndrome	AD
HSD17B10	300256	HSD10 mitochondrial disease	XLD
HSD17B4	601860	Perrault syndrome type 1; D-bifunctional protein deficiency	AR
HSD3B2	613890	3-beta-hydroxysteroid dehydrogenase 2 deficiency	AR
HSPD1	118190	spastic paraplegia 13; hypomyelinating leukodystrophy-4	AD, AR
HTRA1	602194	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2	AD, AR
HYAL1	607071	Mucopolysaccharidosis type IX	AR
IARS2	612801	Cataracts, Growth Hormone Deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia	AR
IBA57	615316	Multiple mitochondrial dysfunctions syndrome 3	AR
IDS	300823	mucopolysaccharidosis type II	XLR
IDUA	252800	mucopolysaccharidosis type IH; mucopolysaccharidosis type 1; mucopolysaccharidosis type IS	AR
IER3IP1	609382	Microcephaly, epilepsy, and diabetes syndrome	AR
IFIH1	606951	Singleton-Merten syndrome type 1; Aicardi-Goutieres syndrome 7	AD
INS	176730	Diabetes Mellitus, Insulin-Dependent, 2; MODY type 10	AD, AR
INSR	147670	Donohue syndrome; Rabson-Mendenhall syndrome; Hyperinsulinemic hypoglycemia, familial, 5; Diabetes mellitus, insulin-resistant, with acanthosis nigricans	AD, AR
ISCA2	615317	Multiple mitochondrial dysfunctions syndrome type 4	AR
ITK	186973	Lymphoproliferative syndrome 1	AR
IVD	607036	isovaleric acidemia	AR
JAG1	601920	Alagille syndrome; Tetralogy of Fallot	AD
JAM3	606871	Hemorrhagic destruction of the brain, subpendymal calcification, and cataracts	AR
KCNC1	176258	Progressive myoclonic epilepsy 7	AD
KCNJ10	602208	autosomal recessive deafness type 4 with enlarged vestibular aqueduct; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance	AR
KCNJ11	600937	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; familial hyperinsulinemic hypoglycemia type 2; transient neonatal diabetes mellitus type 3; MODY type 13	AD, AR
KCNT1	608167	early infantile epileptic encephalopathy 14; nocturnal frontal lobe epilepsy 5	AD
KCTD7	611725	progressive myoclonic epilepsy type 3 with or without intracellular inclusions	AR
KIF5A	602821	spastic paraplegia 10; Neonatal intractable myoclonus	AD
KLF11	603301	MODY type 7
KRAS	190070	Arteriovenous malformations of the brain; Bladder Cancer; familial breast-ovarian cancer type 2; Gastric Cancer, Hereditary Diffuse; Schimmelpenning-Feuerstein-Mims Syndrome; Lung Cancer; Pancreatic Cancer; acute myeloid leukemia; Noonan syndrome 3; Autoimmune lymphoproliferative syndrome type IV; Cardiofaciocutaneous syndrome 2	AD
L2HGDH	609584	L-2-hydroxyglutaric aciduria	AR
LAMA2	156225	congenital muscular dystrophy type 1A; limb-girdle Muscular dystrophy type 23	AR
LAMB1	150240	lissencephaly 5	AR
LAMP2	309060	Danon disease	XLD
LARGE1	603590	congenital muscular dystrophy-dystroglycanopathy with mental retardation type B6; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	AR
LDB3	605906	dilated cardiomyopathy-1C; Myopathy, myofibrillar, 4	AD
LDHA	150000	Glycogen storage disease XI	AR
LDLR	606945	familial hypercholesterolemia	AD
LDLRAP1	605747	Hypercholesterolemia, Autosomal Recessive	AR
LIAS	607031	Pyruvate dehydrogenase lipoic acid synthetase deficiency	AR
LIPA	613497	Wolman disease / cholesteryl ester storage disease	AR
LIPE	151750	Lipodystrophy, familial partial, type 6	AR
LIPT1	610284	Lipoyltransferase 1 deficiency	AR
LMBRD1	612625	Methylmalonic aciduria and homocystinuria, cblF type	AR
LMNA	150330	dilated cardiomyopathy-1A; Lipodystrophy, familial partial, 2; Hutchinson-Gilford progeria; limb-girdle muscular dystrophy type 1B; Emery-Dreifuss muscular dystrophy 2; Malouf syndrome; Mandibuloacral dysplasia; Restrictive dermopathy, lethal; type 2B1 Charcot-Marie-Tooth disease; Heart-hand syndrome, Slovenian type; Muscular dystrophy, congenital; Emery-Dreifuss muscular dystrophy 3, AR	AD, AR
LMNB1	150340	Leukodystrophy, adult-onset, autosomal dominant	AD
LPIN1	605518	Myoglobinuria, acute recurrent, autosomal recessive	AR
LPL	609708	familial combined hyperlipidemia; lipoprotein lipase deficiency	AD, AR
LRPPRC	607544	Leigh syndrome, French-Canadian type	AR
LYRM7	615831	Mitochondrial complex III deficiency nuclear type 8	AR
LYST	606897	Chediak-Higashi syndrome	AR
MAGT1	300715	Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	XLR
MAN1B1	604346	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	AR
MAN2B1	609458	alpha-mannosidosis	AR
MANBA	609489	Mannosidosis, Beta A, Lysosomal	AR
MARS2	609728		AR
MCCC1	609010	3-Methylcrotonyl-CoA carboxylase 1 deficiency	AR
MCCC2	609014	3-methylcrotonyl-CoA carboxylase 2 deficiency	AR
MCEE	608419	Methylmalonyl-coa epimerase deficiency	AR
MCOLN1	605248	Mucolipidosis type IV	AR
MFSD8	611124	neuronal ceroid lipofuscinosis type 7; macular dystrophy with central cone involvement	AR
MGAT2	602616	Congenital disorder of glycosylation, type IIa	AR
MGME1	615076	mitochondrial DNA depletion syndrome 11	AR
MLC1	605908	megalencephalic leukoencephalopathy with subcortical cysts type 1	AR
MLPH	606526	Griscelli syndrome, type 3	AR
MLYCD	606761	Malonyl-CoA decarboxylase deficiency	AR
MMAA	607481	methylmalonic aciduria (MMA) of the cblA complementation type	AR
MMAB	607568	methylmalonic aciduria (MMA) of the cblB complementation type	AR
MMACHC	609831	Methylmalonic aciduria and homocystinuria, cblC type, digenic type included	AR
MMADHC	611935	methylmalonic aciduria (MMA) of the cblD complementation type	AR
MMUT	609058	complete deficiency of methylmalonyl-CoA mutase	AR
MOCS1	603707	molybdenum cofactor deficiency of complementation group A	AR
MOCS2	603708	molybdenum cofactor deficiency of complementation group B	AR
MOGS	601336	congenital disorder of glycosylation type 2b	AR
MPDU1	604041	congenital disorder of glycosylation type 1f	AR
MPI	154550	congenital disorder of glycosylation type 1b	AR
MPV17	137960	mitochondrial DNA depletion syndrome type 6	AR
MRPL44	611849	combined oxidative phosphorylation deficiency type 16	AR
MRPS22	605810	Combined oxidative phosphorylation deficiency 5	AR
MTFMT	611766	Combined oxidative phosphorylation deficiency 15	AR
MTHFR	607093	schizophrenia; thrombophilia due to thrombin defect; homocystinuria due to MTHFR deficiency; folate-sensitive neural tube defects	AD, AR
MTR	156570	homocystinuria-megaloblastic anemia, cblG complementation type; folate-sensitive neural tube defects	AR
MTRR	602568	Homocystinuria-Megaloblastic Anemia, Cble Complementation Type; folate-sensitive neural tube defects	AR
MYO5A	160777	Griscelli syndrome, type 1	AR
MYOT	604103	Myopathy, spheroid body; Myopathy, myofibrillar, 3; limb-girdle muscular dystrophy type 1A	AD
NAGA	104170	Schindler disease, type I, III	AR
NAGLU	609701	mucopolysaccharidosis type IIIB; ? axonal Charcot-Marie-Tooth disease type 2V	AD, AR
NAGS	608300	N-acetylglutamate synthase deficiency	AR
NARS2	612803	Combined oxidative phosphorylation deficiency 24	AR
NBAS	608025	Short stature, optic nerve atrophy, and Pelger-Huet anomaly; Infantile liver failure syndrome type 2	AR
NDUFA1	300078		XLR
NDUFA10	603835		AR
NDUFA11	612638		AR
NDUFA12	614530	Mitochondrial complex I deficiency nuclear type 23	AR
NDUFA2	602137		AR
NDUFA9	603834		AR
NDUFAF1	606934		AR
NDUFAF2	609653	Mitochondrial complex I deficiency nuclear type 10	AR
NDUFAF4	611776		AR
NDUFAF5	612360		AR
NDUFAF6	612392		AR
NDUFS1	157655		AR
NDUFS2	602985		AR
NDUFS3	603846		AR
NDUFS4	602694	mitochondrial complex I deficiency	AR
NDUFS6	603848		AR
NDUFS7	601825	Mitochondrial complex I deficiency, nuclear type 3	AR
NDUFS8	602141		AR
NDUFV1	161015		AR
NDUFV2	600532		AR
NEU1	608272	neuraminidase deficiency	AR
NEUROD1	601724	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; MODY type 6	AD
NEUROG3	604882	Diarrhea 4, malabsorptive, congenital	AR
NFU1	608100	Multiple mitochondrial dysfunctions syndrome 1	AR
NGLY1	610661	Congenital disorder of deglycosylation	AR
NHLRC1	608072	Epilepsy, progressive myoclonic 2A (Lafora); Epilepsy, progressive myoclonic 2B (Lafora)	AR
NOTCH3	600276	CADASIL; Lateral meningocele syndrome	AD
NPC1	607623	Niemann-Pick disease type C/D	AR
NPC2	601015	Niemann-Pick disease type C2	AR
NRAS	164790	colorectal cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Neurocutaneous melanosis, somatic; Noonan syndrome 6; Autoimmune lymphoproliferative syndrome type IV	AD
NUBPL	613621		AR
OAT	613349	Gyrate atrophy of choroid and retina with or without ornithinemia	AR
OCLN	602876	Band-like calcification with simplified gyration and polymicrogyria	AR
OCRL	300535	Dent disease type 2; Lowe oculocerebrorenal syndrome	XLR
OTC	300461	ornithine transcarbamylase deficiency	XLR
OXCT1	601424	Succinyl CoA:3-oxoacid CoA transferase deficiency	AR
PAH	612349	phenylketonuria	AR
PANK2	606157	neurodegeneration with brain iron accumulation type 1; HARP syndrome	AR
PAX4	167413	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Maturity-onset diabetes of the young, type IX	AD, AR
PC	608786	pyruvate carboxylase deficiency	AR
PCCA	232000	propionic acidemia	AR
PCCB	232050	propionic acidemia	AR
PCK1	614168	Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency	AR
PCSK9	607786	hypercholesterolemia-3	AD
PDHA1	300502	Pyruvate dehydrogenase E1-alpha deficiency	XLD
PDHB	179060	Pyruvate dehydrogenase E1-beta deficiency
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
PDX1	600733	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Pancreatic Agenesis, Congenital; MODY type 4	AD, AR
PEPD	613230	Prolidase deficiency	AR
PET100	614770	Mitochondrial complex IV deficiency	AR, M
PEX1	602136	Peroxisome biogenesis disorder type 1A (Zellweger); Heimler syndrome type 1; peroxisome biogenesis disorder type 1B	AR
PEX10	602859	peroxisome biogenesis disorder 6A (Zellweger); peroxisome biogenesis disorder 6B	AR
PEX11B	603867	peroxisome biogenesis disorder 14B (Zellweger)	AR
PEX12	601758	peroxisome biogenesis disorder type 3B; peroxisome biogenesis disorder type 3A (Zellweger)	AR
PEX13	601789	peroxisome biogenesis disorder 11A (Zellweger); peroxisome biogenesis disorder 11B	AR
PEX14	601791	peroxisome biogenesis disorder 13A (Zellweger)	AR
PEX16	603360	peroxisome biogenesis disorder 8A (Zellweger); Peroxisome biogenesis disorder 8B	AR
PEX19	600279	peroxisome biogenesis disorder 12A (Zellweger)	AR
PEX2	170993	peroxisome biogenesis disorder type 5A (Zellweger); peroxisome biogenesis disorder type 5B	AR
PEX26	608666	peroxisome biogenesis disorder type 7A (Zellweger); peroxisome biogenesis disorder 7B	AR
PEX3	603164	peroxisome biogenesis disorder 10A (Zellweger)	AR
PEX5	600414	peroxisome biogenesis disorder 2B (Zellweger); peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata, type 5	AR
PEX6	601498	peroxisome biogenesis disorder type 4A (Zellweger); peroxisome biogenesis disorder type 4B; Heimler syndrome type 2	AD, AR
PEX7	601757	Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger)	AR
PFKM	610681	Glycogen storage disease type VII	AR
PGAM2	612931	Glycogen storage disease X	AR
PGK1	311800	Phosphoglycerate kinase 1 deficiency	XLR
PGM1	171900	congenital disorder of glycosylation type 1t	AR
PHKA1	311870	Muscle glycogenosis	XLR
PHKA2	300798	glycogen storage disease type IX	XLR
PHKB	172490	Glycogen storage disease IXb; Phosphorylase kinase deficiency of liver and muscle	AR
PHKG2	172471	Glycogen storage disease IXc	AR
PHYH	602026	Refsum disease	AR
PIK3R1	171833	SHORT syndrome; Immunodeficiency 36	AD, AR
PKLR	609712	pyruvate kinase deficiency	AD, AR
PLA2G6	603604	infantile neuroaxonal dystrophy; neurodegeneration with brain iron accumulation 2B; Parkinson disease 14	AR
PLCG2	600220	Familial cold autoinflammatory syndrome 3	AD
PLIN1	170290	Lipodystrophy, familial partial, type 4	AD
PLP1	300401	Pelizaeus-Merzbacher disease; spastic paraplegia 2	XLR
PMM2	601785	congenital disorder of glycosylation type 1a	AR
PNPO	603287	Pyridoxamine 5'-phosphate oxidase deficiency	AR
PNPT1	610316	Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70	AR
POLG	174763	progressive external ophthalmoplegia; mitochondrial DNA depletion syndrome type 4A; autosomal recessive progressive external ophthalmoplegia; sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; mitochondrial DNA depletion syndrome type 4B	AD, AR
POLR3A	614258	hypomyelinating leukodystrophy-7	AR
POLR3B	614366	hypomyelinating leukodystrophy-8	AR
POR	124015	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	AR
PPARG	601487	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; OBESITY; Lipodystrophy, familial partial, type 3	AD, AR
PPOX	600923	variegate porphyria	AD
PPT1	600722	neuronal ceroid lipofuscinosis type 1	AR
PRF1	170280	familial hemophagocytic lymphohistiocytosis 2; Lymphoma, non-Hodgkin; Aplastic Anemia	AR
PRICKLE1	608500	Epilepsy, progressive myoclonic 1B	AR
PRKAG2	602743	Wolff-Parkinson-White syndrome; fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease; familial hypertrophic cardiomyopathy 6	AD
PRKCD	176977	Autoimmune lymphoproliferative syndrome, type III	AR
PRODH	606810	Hyperprolinemia, type I; susceptibility to Schizophrenia, 4	AD, AR
PSAP	176801	metachromatic leukodystrophy due to SAP-b deficiency; atypical Gaucher disease; Combined SAP deficiency; atypical Krabbe disease	AR
PSEN1	104311	Pick disease; Dementia, frontotemporal; early-onset familial Alzheimer disease-3; dilated cardiomyopathy-1U; Acne inversa, familial, 3	AD
PTF1A	607194	Pancreatic Agenesis 2	AR
PTS	612719	Hyperphenylalaninemia, BH4-deficient, A	AR
PYCR2	616406	hypomyelinating leukodystrophy-10	AR
PYGL	613741	glycogen storage disease type 6	AR
PYGM	608455	glycogen storage disease type 5	AR
QDPR	612676	Hyperphenylalaninemia, BH4-deficient, C	AR
RAB27A	603868	Griscelli syndrome, type 2	AR
RAI1	607642	Smith-Magenis syndrome	AD
RARS1	107820	hypomyelinating leukodystrophy-9	AR
RARS2	611524	pontocerebellar hypoplasia type 6	AR
RBCK1	610924	Polyglucosan body myopathy 1 with or without immunodeficiency	AR
RFT1	611908	congenital disorder of glycosylation type 1n	AR
RFX6	612659	Mitchell-Riley syndrome	AR
RNASEH2A	606034	Aicardi-Goutieres syndrome type 4	AR
RNASEH2B	610326	Aicardi-Goutieres syndrome type 2	AR
RNASEH2C	610330	Aicardi-Goutieres syndrome 3	AR
RNASET2	612944	Leukoencephalopathy, cystic, without megalencephaly	AR
RPIA	180430		AR
RRM2B	604712	mitochondrial DNA depletion syndrome 8A; progressive external ophthalmoplegia with mitochondrial DNA deletions 5	AD, AR
SAMHD1	606754	Aicardi-Goutieres syndrome type 5; Chilblain lupus type 2	AD, AR
SCARB2	602257	Epilepsy, progressive myoclonic 4, with or without renal failure	AR
SCO1	603644	Mitochondrial complex IV deficiency	AR, M
SCO2	604272	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6	AD, AR
SDHA	600857	mitochondrial complex II deficiency; Leigh syndrome; dilated cardiomyopathy-1GG; paragangliomas type 5	AD, AR, M
SDHAF1	612848	mitochondrial complex II deficiency	AR
SDHB	185470	paragangliomas type 4; pheochromocytoma; gastrointestinal stromal tumor; paraganglioma and gastric stromal sarcoma	AD
SDHD	602690	paragangliomas 1; pheochromocytoma; mitochondrial complex II deficiency; paraganglioma and gastric stromal sarcoma	AD, AR
SERAC1	614725	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL syndrome).	AR
SERPINI1	602445	Encephalopathy, familial, with neuroserpin inclusion bodies	AD
SGSH	605270	mucopolysaccharidosis type IIIA	AR
SLC16A1	600682	Monocarboxylate transporter 1 deficiency	AD, AR
SLC16A2	300095	Allan-Herndon-Dudley syndrome	XL
SLC17A5	604322	infantile sialic acid storage disorder; Salla disease	AR
SLC19A3	606152	biotin-thiamine-responsive basal ganglia disease	AR
SLC22A5	603377	systemic primary carnitine deficiency	AR
SLC25A1	190315	Combined D-2- and L-2-hydroxyglutaric aciduria	AR
SLC25A12	603667	Epileptic encephalopathy, early infantile, 39	AR
SLC25A13	603859	Citrullinemia, Type Ii, Adult-Onset; Citrullinemia, type II, neonatal-onset	AR
SLC25A15	603861	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	AR
SLC25A20	613698	Carnitine-acylcarnitine translocase deficiency	AR
SLC25A4	103220	Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 2; mitochondrial DNA depletion syndrome 12; mitochondrial DNA depletion syndrome type 12A	AD, AR
SLC2A1	138140	Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility to, 12	AD, AR
SLC2A2	138160	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Fanconi-Bickel syndrome	AD, AR
SLC35A1	605634	Congenital disorder of glycosylation, type IIf	AR
SLC35A2	314375	congenital disorder of glycosylation type 2m	XLD
SLC35C1	605881	Congenital disorder of glycosylation, type IIc	AR
SLC3A1	104614	cystinuria	AD, AR
SLC40A1	604653	Hemochromatosis, type 4	AD
SLC4A1	109270	Autosomal dominant distal renal tubular acidosis; resistance to malaria; Renal tubular acidosis, distal, with hemolytic anemia; Spherocytosis, type 4	AD, AR
SLC6A8	300036	Cerebral creatine deficiency syndrome type 1	XLR
SLC6A9	601019	Glycine encephalopathy with normal serum glycine	AR
SLC7A7	603593	Lysinuric protein intolerance	AR
SLC7A9	604144	cystinuria	AD, AR
SLCO1B1	604843	Hyperbilirubinemia, Rotor type, digenic	DiR
SLCO1B3	605495	Hyperbilirubinemia, Rotor type, digenic	DiR
SMPD1	607608	Niemann-Pick disease type A; Niemann-Pick disease type A/B	AR
SNTA1	601017	long QT syndrome 12	AD
SOX10	602229	PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome, type 4C	AD
SPART	607111	spastic paraplegia 20	AR
SPG11	610844	Amyotrophic lateral sclerosis 5, juvenile; spastic paraplegia type 11; Charcot-Marie-Tooth disease, axonal, type 2X	AR
SPG7	602783	spastic paraplegia 7	AD, AR
SPTA1	182860	Elliptocytosis type 2; Pyropoikilocytosis; Spherocytosis, type 3	AD, AR
SPTB	182870	Spherocytosis, type 2; Elliptocytosis 3	AD
SRD5A3	611715	congenital disorder of glycosylation type 1q; Kahrizi syndrome	AR
SSR4	300090	congenital disorder of glycosylation type 1y	XLR
STAT1	600555	Autosomal recessive Immunodeficiency 31B, mycobacterial and viral infections; Immunodeficiency 31C, autosomal dominant	AD, AR
STT3A	601134	congenital disorder of glycosylation type 1w	AR
STT3B	608605	Congenital disorder of glycosylation, type Ix	AR
STX11	605014	Hemophagocytic lymphohistiocytosis, familial, 4	AR
STXBP2	601717	Hemophagocytic lymphohistiocytosis, familial, 5
SUCLA2	603921	mitochondrial DNA depletion syndrome 5	AR
SUCLG1	611224	mitochondrial DNA depletion syndrome 9	AR
SUGCT	609187		AR
SUMF1	607939	multiple sulfatase deficiency	AR
SUOX	606887	Sulfite oxidase deficiency	AR
SURF1	185620	Leigh syndrome	AR, M
SYNE1	608441	autosomal recessive spinocerebellar ataxia 8; Emery-Dreifuss muscular dystrophy 4	AD, AR
TACO1	612958	Mitochondrial complex IV deficiency	AR, M
TAT	613018	Tyrosinemia type II	AR
TAZ	300394	Barth syndrome	XLR
TBC1D24	613577	DOOR syndrome; Myoclonic epilepsy, infantile, familial; Rolandic epilepsy with proxysmal exercise-induced dystonia and writer's cramp; deafness type 86; Epileptic encephalopathy, early infantile, 16; deafness type 65	AD, AR
TCF4	602272	Pitt-Hopkins syndrome	AD
TCN2	613441	Transcobalamin II deficiency	AR
TFR2	604720	hemochromatosis type 3	AR
TGFB1	190180	Camurati-Engelmann disease; cystic fibrosis	AD, AR
TINF2	604319	Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3	AD
TK2	188250	mitochondrial DNA depletion syndrome 2	AR
TMEM165	614726	Congenital disorder of glycosylation, type IIk	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	neuronal ceroid lipofuscinosis type 2; autosomal recessive spinocerebellar ataxia type 7	AR
TREM2	605086	polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy type 2	AD
TREX1	606609	systemic lupus erythematosus; retinal vasculopathy with cerebral leukodystrophy; Aicardi-Goutieres syndrome type 1; chilblain lupus type 1	AD, AR
TRPV4	605427	Brachyolmia type 3; Metatropic dysplasia; Spondylometaphyseal dysplasia, Kozlowski type; Hereditary motor and sensory neuropathy, type IIc	AD
TSFM	604723	Combined oxidative phosphorylation deficiency 3	AR
TTC19	613814	nuclear mitochondrial complex III deficiency type 2	AR
TUBB4A	602662	dystonia 4; hypomyelinating leukodystrophy-6	AD
TUFM	602389	Combined oxidative phosphorylation deficiency 4	AR
TUSC3	601385	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7	AR
TWNK	606075	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Progressive external ophthalmoplegia, autosomal dominant, 3	AD, AR
TYMP	131222	mitochondrial DNA depletion syndrome 1	AR
TYROBP	604142	polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy type 1	AR
UCP2	601693
UGT1A1	191740	Gilbert syndrome; Crigler-Najjar syndrome type I; familial transient neonatal hyperbilirubinemia; serum level of Bilirubin, QTL1; Crigler-Najjar syndrome type II	AR
UMPS	613891	Orotic aciduria	AR
UNC13D	608897	familial hemophagocytic lymphohistiocytosis 3	AR
UQCRQ	612080	Mitochondrial complex III deficiency, nuclear type 4	AR
UROD	613521	hepatoerythropoietic porphyria	AD, AR
UROS	606938	Porphyria, congenital erythropoietic	AR
WDR45	300526	neurodegeneration with brain iron accumulation 5	XLD
WFS1	606201	congenital nuclear cataract type 41; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Wolfram syndrome; Deafness, autosomal dominant 6/14/38; Wolfram-like syndrome	AD, AR
ZFP57	612192	Diabetes mellitus, transient neonatal, 1	AD
ZFYVE26	612012	spastic paraplegia type 15	AR

Common syndromes and disorders covered

Aicardi-Goutieres syndrome

Autoimmune lymphoproliferative syndrome

Ceroid lipofuscinosis

Congenital glycosylation disease

Fatty acid oxidation disorder

Familial hypercholesterolemia

Glycogen storage disease

Hemophagocytic lymphohistiocytosis

Hereditary hemochromatosis

Hereditary spherocytosis

Leigh syndrome and mitochondrial encephalopathy

Leukodystrophy and peroxisome biogenesis disorders

Lipodystrophy syndromes

Lysosomal storage disease

Maple syrup urine disease

Methylmalonic acidemia

Mucopolysaccharidosis

Neurodegeneration with Brain Iron Accumulation

Non-ketotic hyperglycinemia

Porphyria

Refsum disease

Urea cycle disorder

CentoMetabolic®

CentoMetabolic® was developed specifically for patients suspected of having a metabolic disorder or presenting complex, overlapping symptoms, a metabolic crisis, or neurological conditions of unknown etiology. It provides short turnaround times, targeting critically ill patients in NICU/PICU, and includes enzyme-activity testing where applicable as well as a proprietary selection of biomarkers that is continually updated.

No. of genes:	206
TAT:	15 days
Coverage:	≥99.5% ≥20x
Details:	CNV analysis included Complementary biochemical testing by proprietary biomarkers and enzyme-activity assays if applicable

Overview of genes and associated diseases (OMIM) included in this panel:

Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
ABCA1	600046	Tangier disease; HDL deficiency, type 2	AR
ABCB4	171060	gallbladder disease type 1; progressive familial intrahepatic cholestasis type 3; Cholestasis, intrahepatic, of pregnancy, 3	AD, AR
ABCC2	601107	Dubin-Johnson syndrome	AR
ABCD1	300371	adrenoleukodystrophy	XLR
ABCD4	603214	Methylmalonic aciduria and homocystinuria, cblJ type	AR
ABCG5	605459
ABCG8	605460	Sitosterolemia	AR
ACAT1	607809	alpha-methylacetoacetic aciduria	AR
ADA	608958	Adenosine deaminase deficiency	AR
AGA	613228	Aspartylglucosaminuria	AR
AGL	610860	glycogen storage disease type III	AR
AGPS	603051	rhizomelic chondrodysplasia punctata type 3	AR
AGXT	604285	primary hyperoxaluria type 1	AR
ALAD	125270	Acute hepatic porphyria	AR
ALAS2	301300	X-linked sideroblastic anemia; Protoporphyria, erythropoietic, X-linked	XL, XLR
ALDH4A1	606811	hyperprolinemia, type II	AR
ALDOA	103850	Glycogen storage disease XII	AR
ALDOB	612724	hereditary fructose intolerance	AR
ALG3	608750	congenital disorder of glycosylation type 1d	AR
ALPL	171760	adult hypophosphatasia; infantile hypophosphatasia; childhood-onset hypophosphatasia	AD, AR
ANTXR2	608041	Hyaline fibromatosis syndrome	AR
APOA2	107670	familial hypercholesterolemia	AD
APOA5	606368	HYPERLIPOPROTEINEMIA, TYPE V; Hypertriglyceridemia, susceptibility to	AD
APOB	107730	Hypercholesterolemia, Type B; Hypobetalipoproteinemia	AD, AR
APOC2	608083	Apolipoprotein C-Ii Deficiency	AR
APOE	107741	Alzheimer Disease 2; Sea-blue histiocyte disease; Macular Degeneration, Age-Related, 1; early-onset familial Alzheimer disease-3; Lipoprotein glomerulopathy	AD, AR
ARG1	608313	Argininemia	AR
ARSA	607574	metachromatic leukodystrophy	AR
ARSB	611542	mucopolysaccharidosis type VI	AR
ASAH1	613468	Spinal muscular atrophy with progressive myoclonic epilepsy; Farber lipogranulomatosis	AR
ASL	608310	argininosuccinic aciduria	AR
ASS1	603470	citrullinemia	AR
ATP7A	300011	X-linked distal spinal muscular atrophy type 3; Occipital horn syndrome; Menkes disease	XLR
ATP7B	606882	Wilson disease	AR
BCKDHA	608348	maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II	AR
BCKDHB	248611	maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II	AR
BTD	609019	biotinidase deficiency	AR
CBS	613381	homocystinuria with or without response to pyridoxine	AR
CD320	606475	Methylmalonic aciduria due to transcobalamin receptor defect
CETP	118470	hyperalphalipoproteinemia 1	AD
CLN3	607042	neuronal ceroid lipofuscinosis type 3	AR
CLN5	608102	neuronal ceroid lipofuscinosis type 5	AR
CLN6	606725	adulte onset neuronal ceroid lipofuscinosis, Kufs type; neuronal ceroid lipofuscinosis type 6	AR
CLN8	607837	neuronal ceroid lipofuscinosis type 8; neuronal ceroid lipofuscinosistype 8, Northern epilepsy variant	AR
CPOX	612732	Coproporphyria, hereditary	AD, AR
CPS1	608307	carbamoyl-phosphate synthetase 1 deficiency	AR
CPT1A	600528	hepatic CPT deficiency type IA	AR
CTNS	606272	ocular nonnephropathic cystinosis; cystinosis; late-onset juvenile or adolescent nephropathic cystinosis	AR
CTSA	613111	galactosialidosis	AR
CTSD	116840	neuronal ceroid lipofuscinosis type 10	AR
CTSK	601105	pycnodysostosis	AR
CYP11B1	610613	Glucocorticoid-Remediable Aldosteronism; Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	AD, AR
CYP17A1	609300	congenital adrenal hyperplasia due to 17-Alpha-Hydroxylase deficiency	AR
CYP19A1	107910	Aromatase excess syndrome; Aromatase deficiency	AD
CYP21A2	613815	congenital adrenal hyperplasia type 1	AR
DBT	248610	maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II	AR
DDC	107930	Aromatic L-amino acid decarboxylase deficiency	AR
DHCR7	602858	Smith-Lemli-Opitz syndrome	AR
DIABLO	605219	Deafness, autosomal dominant 64	AD
DLX4	601911		AD
DNAJC5	611203	neuronal ceroid lipofuscinosis type 4, Parry type	AD
DPYD	612779	Dihydropyrimidine dehydrogenase deficiency	AR
ENO3	131370	Glycogen storage disease XIII	AR
ENPP1	173335	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Arterial calcification, generalized, of infancy, 1; OBESITY; Hypophosphatemic rickets, autosomal recessive, 2; Cole disease	AD, AR
EPHX2	132811	familial hypercholesterolemia	AD
ETHE1	608451	ethylmalonic encephalopathy	AR
FAH	613871	tyrosinemia type 1	AR
FBP1	611570	Fructose-1,6-bidphosphatase deficiency	AR
FECH	612386	Protoporphyria, erythropoietic, autosomal recessive	AR
FGF23	605380	Hypophosphatemic rickets, autosomal dominant	AD, AR
FUCA1	612280	fucosidosis	AR
G6PC	613742	glycogen storage disease type IA	AR
G6PD	305900	glucose-6-phosphate dehydrogenase deficiency; resistance to malaria	XLD
GAA	606800	Pompe disease	AR
GALC	606890	Krabbe disease	AR
GALE	606953	Galactose epimerase deficiency	AR
GALK1	604313	galactokinase deficiency	AR
GALNS	612222	mucopolysaccharidosis type IVA	AR
GALT	606999	galactosemia	AR
GAMT	601240	guanidinoacetate methyltransferase deficiency	AR
GATM	602360	Cerebral creatine deficiency syndrome 3	AD, AR
GBA	606463	Lewy body dementia; Susceptibility to late-onset Parkinson disease; Gaucher disease type 1; Gaucher disease type 2 (acute); Gaucher disease type 3 (subacute/ chronic); Gaucher disease, cardiovascular form; Gaucher disease, perinatal-lethal form	AD, AR
GBE1	607839	storage disease type 4; Polyglucosan body disease, adult form	AR
GHR	600946	familial hypercholesterolemia; Laron syndrome; Increased responsiveness to growth hormone	AD, AR
GK	300474	Glycerol kinase deficiency	XLR
GLA	300644	Fabry disease; Fabry disease, atypical cardiac variant	XL
GLB1	611458	GM1-gangliosidosis; GM1-gangliosidosis type II; GM1-gangliosidosis type III; mucopolysaccharidosis type IVB	AR
GM2A	613109	GM2-gangliosidosis, AB variant	AR
GNPAT	602744	rhizomelic chondrodysplasia punctata type 2	AR
GNPTAB	607840	mucolipidosis II alpha/beta; mucolipidosis III alpha/beta	AR
GNPTG	607838	mucolipidosis III gamma	AR
GNS	607664	mucopolysaccharidosis type IIID	AR
GUSB	611499	mucopolysaccharidosis type VII	AR
GYG1	603942	Glycogen storage disease XV; Polyglucosan body myopathy 2	AR
GYS1	138570	Glycogen storage disease 0, muscle	AR
GYS2	138571	Glycogen storage disease 0, liver	AR
HCFC1	300019	mental retardation 3	XLR
HEXA	606869	Tay-Sachs disease/ GM2-gangliosidosis	AR
HEXB	606873	Sandhoff disease	AR
HFE	613609	Alzheimer Disease; hepatoerythropoietic porphyria; variegate porphyria; hemochromatosis type 1; susceptibility to microvascular complications of diabetes type 7; Transferrin serum level QTL2	AD, AR
HGD	607474	Alkaptonuria	AR
HGSNAT	610453	mucopolysaccharidosis type IIIC; retinitis pigmentosa type 73	AR
HJV	608374	hemochromatosis type 2A	AR
HLCS	609018	Holocarboxylase synthetase deficiency	AR
HMBS	609806	acute intermittent porphyria	AD
HPD	609695	Tyrosinemia, type III	AD, AR
HPRT1	308000	Lesch-Nyhan syndrome; Kelley-Seegmiller syndrome	XLR
HSD3B2	613890	3-beta-hydroxysteroid dehydrogenase 2 deficiency	AR
HYAL1	607071	Mucopolysaccharidosis type IX	AR
IDS	300823	mucopolysaccharidosis type II	XLR
IDUA	252800	mucopolysaccharidosis type IH; mucopolysaccharidosis type 1; mucopolysaccharidosis type IS	AR
ITIH4	600564
IVD	607036	isovaleric acidemia	AR
KHK	614058	[Fructosuria]	AR
LAMP2	309060	Danon disease	XLD
LCAT	606967	Fish-eye disease; LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY	AR
LDHA	150000	Glycogen storage disease XI	AR
LDLR	606945	familial hypercholesterolemia	AD
LDLRAP1	605747	Hypercholesterolemia, Autosomal Recessive	AR
LIPA	613497	Wolman disease / cholesteryl ester storage disease	AR
LIPC	151670	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II	AD, AR
LIPI	609252
LMBRD1	612625	Methylmalonic aciduria and homocystinuria, cblF type	AR
LPA	152200
LPL	609708	familial combined hyperlipidemia; lipoprotein lipase deficiency	AD, AR
MAN2B1	609458	alpha-mannosidosis	AR
MANBA	609489	Mannosidosis, Beta A, Lysosomal	AR
MCOLN1	605248	Mucolipidosis type IV	AR
MFSD8	611124	neuronal ceroid lipofuscinosis type 7; macular dystrophy with central cone involvement	AR
MMAA	607481	methylmalonic aciduria (MMA) of the cblA complementation type	AR
MMAB	607568	methylmalonic aciduria (MMA) of the cblB complementation type	AR
MMACHC	609831	Methylmalonic aciduria and homocystinuria, cblC type, digenic type included	AR
MMADHC	611935	methylmalonic aciduria (MMA) of the cblD complementation type	AR
MMUT	609058	complete deficiency of methylmalonyl-CoA mutase	AR
NAGA	104170	Schindler disease, type I, III	AR
NAGLU	609701	mucopolysaccharidosis type IIIB; ? axonal Charcot-Marie-Tooth disease type 2V	AD, AR
NAGS	608300	N-acetylglutamate synthase deficiency	AR
NEU1	608272	neuraminidase deficiency	AR
NPC1	607623	Niemann-Pick disease type C/D	AR
NPC2	601015	Niemann-Pick disease type C2	AR
OTC	300461	ornithine transcarbamylase deficiency	XLR
PAH	612349	phenylketonuria	AR
PCSK9	607786	hypercholesterolemia-3	AD
PDHB	179060	Pyruvate dehydrogenase E1-beta deficiency
PEX1	602136	Peroxisome biogenesis disorder type 1A (Zellweger); Heimler syndrome type 1; peroxisome biogenesis disorder type 1B	AR
PEX10	602859	peroxisome biogenesis disorder 6A (Zellweger); peroxisome biogenesis disorder 6B	AR
PEX12	601758	peroxisome biogenesis disorder type 3B; peroxisome biogenesis disorder type 3A (Zellweger)	AR
PEX13	601789	peroxisome biogenesis disorder 11A (Zellweger); peroxisome biogenesis disorder 11B	AR
PEX14	601791	peroxisome biogenesis disorder 13A (Zellweger)	AR
PEX16	603360	peroxisome biogenesis disorder 8A (Zellweger); Peroxisome biogenesis disorder 8B	AR
PEX19	600279	peroxisome biogenesis disorder 12A (Zellweger)	AR
PEX2	170993	peroxisome biogenesis disorder type 5A (Zellweger); peroxisome biogenesis disorder type 5B	AR
PEX26	608666	peroxisome biogenesis disorder type 7A (Zellweger); peroxisome biogenesis disorder 7B	AR
PEX3	603164	peroxisome biogenesis disorder 10A (Zellweger)	AR
PEX5	600414	peroxisome biogenesis disorder 2B (Zellweger); peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata, type 5	AR
PEX6	601498	peroxisome biogenesis disorder type 4A (Zellweger); peroxisome biogenesis disorder type 4B; Heimler syndrome type 2	AD, AR
PEX7	601757	Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger)	AR
PFKM	610681	Glycogen storage disease type VII	AR
PGAM2	612931	Glycogen storage disease X	AR
PGK1	311800	Phosphoglycerate kinase 1 deficiency	XLR
PGM1	171900	congenital disorder of glycosylation type 1t	AR
PHKA1	311870	Muscle glycogenosis	XLR
PHKA2	300798	glycogen storage disease type IX	XLR
PHKB	172490	Glycogen storage disease IXb; Phosphorylase kinase deficiency of liver and muscle	AR
PHKG2	172471	Glycogen storage disease IXc	AR
PKLR	609712	pyruvate kinase deficiency	AD, AR
PNPO	603287	Pyridoxamine 5'-phosphate oxidase deficiency	AR
POR	124015	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	AR
PPOX	600923	variegate porphyria	AD
PPP1R17	604088	familial hypercholesterolemia	AD
PPT1	600722	neuronal ceroid lipofuscinosis type 1	AR
PRKAG2	602743	Wolff-Parkinson-White syndrome; fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease; familial hypertrophic cardiomyopathy 6	AD
PSAP	176801	metachromatic leukodystrophy due to SAP-b deficiency; atypical Gaucher disease; Combined SAP deficiency; atypical Krabbe disease	AR
PYGL	613741	glycogen storage disease type 6	AR
PYGM	608455	glycogen storage disease type 5	AR
RBCK1	610924	Polyglucosan body myopathy 1 with or without immunodeficiency	AR
SGSH	605270	mucopolysaccharidosis type IIIA	AR
SI	609845	Sucrase-isomaltase deficiency, congenital	AR
SLC17A5	604322	infantile sialic acid storage disorder; Salla disease	AR
SLC22A5	603377	systemic primary carnitine deficiency	AR
SLC25A13	603859	Citrullinemia, Type Ii, Adult-Onset; Citrullinemia, type II, neonatal-onset	AR
SLC25A15	603861	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	AR
SLC25A20	613698	Carnitine-acylcarnitine translocase deficiency	AR
SLC25A36	616149
SLC2A1	138140	Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility to, 12	AD, AR
SLC2A2	138160	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Fanconi-Bickel syndrome	AD, AR
SLC2A3	138170
SLC37A4	602671	glycogen storage disease type 1B; glycogen storage disease IC	AR
SLC3A1	104614	cystinuria	AD, AR
SLC3A2	158070
SLC40A1	604653	Hemochromatosis, type 4	AD
SLC6A19	608893	Hartnup disorder	AD, AR, DiR
SLC6A8	300036	Cerebral creatine deficiency syndrome type 1	XLR
SLC7A7	603593	Lysinuric protein intolerance	AR
SLC7A9	604144	cystinuria	AD, AR
SLCO1B1	604843	Hyperbilirubinemia, Rotor type, digenic	DiR
SLCO1B3	605495	Hyperbilirubinemia, Rotor type, digenic	DiR
SMPD1	607608	Niemann-Pick disease type A; Niemann-Pick disease type A/B	AR
SUMF1	607939	multiple sulfatase deficiency	AR
TAT	613018	Tyrosinemia type II	AR
TFR2	604720	hemochromatosis type 3	AR
TPP1	607998	neuronal ceroid lipofuscinosis type 2; autosomal recessive spinocerebellar ataxia type 7	AR
UGT1A1	191740	Gilbert syndrome; Crigler-Najjar syndrome type I; familial transient neonatal hyperbilirubinemia; serum level of Bilirubin, QTL1; Crigler-Najjar syndrome type II	AR
UMPS	613891	Orotic aciduria	AR
UROD	613521	hepatoerythropoietic porphyria	AD, AR
UROS	606938	Porphyria, congenital erythropoietic	AR

Common syndromes and disorders covered

Most common metabolic disorders

Available downloads for CentoMetabolic®

CentoMetabolic® - One pager
Download
Español Português

CentoMito® Comprehensive

CentoMito® Comprehensive covers the entire mitochondrial genome (≥97% ≥ 200x coverage) with detection of heteroplasmy down to 5% along with nuclear genes related to mitochondrial diseases (≥99.5% ≥20x coverage). Mitochondrial diseases are genetic conditions that occur when mitochondria fails to produce enough energy for the cell. Genetic mutations related to mitochondria cause symptoms mainly in the organs, where energetic consumption is high. These organs include the eye, kidney, pancreas, blood, inner ear, colon, skeletal muscle, heart, and brain.

No. of genes:	404
TAT:	25 days
Coverage:	≥99.5% ≥20x (nuclear mitochondrial genes) ≥97% ≥200x
Details:	CNV analysis included

CentoMito® brochure
Download

Overview of genes and associated diseases (OMIM) included in this panel:

Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
AARS2	612035	Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure	AR
AASS	605113	Hyperlysinemia	AR
ABAT	137150	GABA-transaminase deficiency	AR
ABCB6	605452	Dyschromatosis universalis hereditaria 3	AD
ABCB7	300135	Anemia, Sideroblastic, and Spinocerebellar Ataxia	XLR
ABCD1	300371	adrenoleukodystrophy	XLR
ABCD3	170995	congenital bile acid synthesis defect-5	AR
ACACA	200350	Acetyl-CoA carboxylase deficiency	AR
ACAD8	604773		AR
ACAD9	611103	Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of	AR
ACADM	607008	medium chain acyl-CoA dehydrogenase deficiency	AR
ACADS	606885	short-chain acyl-CoA dehydrogenase deficiency	AR
ACADSB	600301	2-methylbutyrylglycinuria	AR
ACADVL	609575	very long chain acyl-CoA dehydrogenase deficiency	AR
ACAT1	607809	alpha-methylacetoacetic aciduria	AR
ACO2	100850	Infantile cerebellar-retinal degeneration	AR
ACOX1	609751	Peroxisomal acyl-CoA oxidase deficiency	AR
ACSF3	614245	Combined malonic and methylmalonic aciduria
ACSL4	300157	mental retardation 63	XLD
AFG3L2	604581	spinocerebellar ataxia 28; spastic ataxia 5	AD, AR
AGK	610345	Sengers syndrome; autosomal recessive cataract type 38	AR
AGXT	604285	primary hyperoxaluria type 1	AR
AIFM1	300169	Deafness, X-linked 5; Combined oxidative phosphorylation deficiency 6; Cowchock syndrome	XLR
AK2	103020	Reticular dysgenesis	AR
ALAS2	301300	X-linked sideroblastic anemia; Protoporphyria, erythropoietic, X-linked	XL, XLR
ALDH18A1	138250	Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3	AD, AR
ALDH2	100650		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	pyridoxine-dependent epilepsy	AR
AMACR	604489	Alpha-methylacyl-CoA racemase deficiency	AR
AMT	238310	glycine encephalopathy	AR
APTX	606350	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	AR
ATIC	601731		AR
ATP5F1A	164360	Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 ?; Combined oxidative phosphorylation deficiency 22 ?	AR
ATP5F1E	606153	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
ATP7B	606882	Wilson disease	AR
ATPAF2	608918	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	AR
ATXN2	601517	Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 2	AD
AUH	600529	3-methylglutaconic aciduria, type I	AR
BAX	600040	colorectal cancer; Acute lymphoblastic leukemia
BCKDHA	608348	maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II	AR
BCKDHB	248611	maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II	AR
BCKDK	614901	BCKDK deficiency
BCL2	151430
BCS1L	603647	Mitochondrial complex III deficiency, nuclear type 1; Leigh syndrome; Bjornstad syndrome; GRACILE syndrome	AR, M
BOLA3	613183	Multiple mitochondrial dysfunctions syndrome 2	AR
BRIP1	605882	familial breast-ovarian cancer type 2; Fanconi anemia of complementation group J	AD
BTD	609019	biotinidase deficiency	AR
C12orf65	613541	Combined oxidative phosphorylation deficiency 7	AR
CA5A	114761	Hyperammonemia due to carbonic anhydrase VA deficiency	AR
CASP8	601763	familial breast-ovarian cancer type 2; Hepatocellular Carcinoma; Lung Cancer	AD, AR
CAT	115500
CAVIN1	603198	Lipodystrophy, congenital generalized, type 4	AR
CEL	114840	MODY type 8	AD
CHCHD10	615903	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	AD
CISD2	611507	Wolfram syndrome 2	AR
CLPB	616254	3-methylglutaconic aciduria type VII with cataracts, neurologic involvement and neutropenia	AR
CLPP	601119	Perrault syndrome 3	AR
COA5	613920		AR
COA6	614772		AR
COA8	616003	Mitochondrial complex IV deficiency	AR, M
COASY	609855	Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia type 12	AR
COMT	116790	schizophrenia	?AD, AD
COQ2	609825	Multiple system atrophy, susceptibility to; Coenzyme Q10 deficiency, primary, 1	AD, AR
COQ4	612898	primary coenzyme Q10 deficiency type 7	AR
COQ6	614647	Coenzyme Q10 deficiency, primary, 6	AR
COQ8A	606980	primary Coenzyme Q10 deficiency type 4 - COQ10D4	AR
COQ8B	615567	Nephrotic syndrome, type 9	AR
COQ9	612837	Coenzyme Q10 deficiency, primary, 5	AR
COX10	602125	Mitochondrial complex IV deficiency; Leigh syndrome	AR, M
COX14	614478	Mitochondrial complex IV deficiency	AR, M
COX15	603646	Leigh syndrome; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	AR, M
COX20	614698	Mitochondrial complex IV deficiency	AR, M
COX4I2	607976	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis	AR
COX6A1	602072	intermediate type D Charcot-Marie-Tooth	AR
COX6B1	124089	Mitochondrial complex IV deficiency	AR, M
COX7B	300885	Linear skin defects with multiple congenital anomalies 2	XLD
CPOX	612732	Coproporphyria, hereditary	AD, AR
CPS1	608307	carbamoyl-phosphate synthetase 1 deficiency	AR
CPT1A	600528	hepatic CPT deficiency type IA	AR
CPT1C	608846	spastic paraplegia 73	AD
CPT2	600650	stress-induced myopathic CPT II deficiency; infantile CPT deficiency; lethal neonatal CPT II deficiency; susceptibility to infection-induced acute encephalopathy type 4	AD, AR
CRBN	609262	mental retardation 2	AR
CYB5A	613218	methemoglobinemia and ambiguous genitalia	AR
CYB5R3	613213	methemoglobinemia type I	AR
CYC1	123980	Mitochondrial complex III deficiency, nuclear type 6	AR
CYCS	123970	Thrombocytopenia 4	AD
CYP11A1	118485	Adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete
CYP11B1	610613	Glucocorticoid-Remediable Aldosteronism; Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	AD, AR
CYP11B2	124080	congenita hypoaldosteronism due to CMO I deficiency; congenital hypoaldosteronism due to CMO II deficiency	AR
CYP24A1	126065	Hypercalcemia, infantile	AR
CYP27A1	606530	cerebrotendinous xanthomatosis	AR
CYP27B1	609506	vitamin D-dependent rickets type 1A	AR
D2HGDH	609186	D-2-Hydroxyglutaric Aciduria 1	AR
DARS2	610956	leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	AR
DBT	248610	maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II	AR
DGUOK	601465	mitochondrial DNA depletion syndrome 3	AR
DHCR24	606418	Desmosterolosis	AR
DHODH	126064	Miller syndrome	AR
DHTKD1	614984	2-aminoadipic 2-oxoadipic aciduria; type 2Q Charcot-Marie-Tooth disease	AD, AR
DIABLO	605219	Deafness, autosomal dominant 64	AD
DLAT	608770	Pyruvate dehydrogenase E2 deficiency	AR
DLD	238331	dihydrolipoamide dehydrogenase deficiency	AR
DMGDH	605849	Dimethylglycine dehydrogenase deficiency	AR
DMPK	605377	myotonic dystrophy type 1	AD
DNA2	601810	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6	AD, AR
DNAJC19	608977	3-methylglutaconic aciduria, type 5	AR
DNAJC3	601184	combined cerebellar and peripheral ataxia with hearing loss and diabetes mellitus	AR
DNM1L	603850	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission	AD, AR
EARS2	612799	Combined oxidative phosphorylation deficiency 12	AR
ECHS1	602292	mitochondrial short-chain enoyl-CoA hydratase 1 deficiency	AR
ELAC2	605367	Prostate Cancer, Hereditary, 2; Combined oxidative phosphorylation deficiency 17	AR
EPHX2	132811	familial hypercholesterolemia	AD
ETFA	608053	multiple acyl-CoA dehydrogenase deficiency	AR
ETFB	130410	multiple acyl-CoA dehydrogenase deficiency	AR
ETFDH	231675	multiple acyl-CoA dehydrogenase deficiency	AR
ETHE1	608451	ethylmalonic encephalopathy	AR
FAH	613871	tyrosinemia type 1	AR
FARS2	611592	Combined oxidative phosphorylation deficiency 14; spastic paraplegia type 77	AR
FASTKD2	612322		AR
FBXL4	605654	mitochondrial DNA depletion syndrome 13	AR
FECH	612386	Protoporphyria, erythropoietic, autosomal recessive	AR
FH	136850	Leiomyomatosis and renal cell cancer; Fumarase deficiency	AD, AR
FKBP10	607063	Bruck syndrome 1; osteogenesis imperfecta type 11	AR
FOXRED1	613622		AR
FTH1	134770		AD
FXN	606829	Friedreich ataxia	AR
GARS1	600287	Neuropathy, distal hereditary motor, type V; type 2D Charcot-Marie-Tooth disease	AD
GATM	602360	Cerebral creatine deficiency syndrome 3	AD, AR
GCDH	608801	glutaric academia type I	AR
GCSH	238330	glycine encephalopathy	AR
GDAP1	606598	type 4A Charcot-Marie-Tooth disease; type 2K Charcot-Marie-Tooth disease	AD, AR
GFER	600924	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
GFM1	606639	Combined oxidative phosphorylation deficiency 1	AR
GFM2	606544		AR
GK	300474	Glycerol kinase deficiency	XLR
GLDC	238300	glycine encephalopathy	AR
GLRX5	609588	Anemia, sideroblastic, 3, pyridoxine-refractory	AR
GLUD1	138130	familial hyperinsulinemic hypoglycemia-6	AD
GLYCTK	610516	D-glyceric aciduria	AR
GPI	172400	nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency	AR
GPT2	138210	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49	AR
GPX1	138320	Hemolytic anemia due to glutathione peroxidase deficiency	AR
GRHPR	604296	primary hyperoxaluria type II	AR
GSR	138300		AR
GTPBP3	608536	Combined oxidative phosphorylation deficiency 23	AR
HADH	601609	3-hydroxyacyl-CoA dehydrogenase deficiency; familial hyperinsulinemic hypoglycemia type 4	AR
HADHA	600890	mitochondrial trifunctional protein deficiency; long-chain 3-hydroxyl-CoA dehydrogenase deficiency	AR
HADHB	143450	mitochondrial trifunctional protein deficiency	AR
HAMP	606464	Hemochromatosis, type 2B	AR
HARS2	600783		AR
HAX1	605998	autosomal recessive severe congenital neutropenia type 3	AR
HCCS	300056	Microphthalmia, syndromic 7	XLD
HIBCH	610690	3-hydroxyisobutryl-CoA hydrolase deficiency	AR
HINT1	601314	Neuromyotonia and axonal neuropathy, autosomal recessive	AR
HK1	142600	Hemolytic anemia due to hexokinase deficiency; Neuropathy, hereditary motor and sensory, Russe type; Retinitis pigmentosa 79; Neurodevelopmental disorder with visual defects and brain anomalies	AD, AR
HLCS	609018	Holocarboxylase synthetase deficiency	AR
HMBS	609806	acute intermittent porphyria	AD
HMGCL	613898	HMG-CoA lyase deficiency	AR
HMGCS2	600234	HMG-CoA synthase-2 deficiency	AR
HOGA1	613597	primary hyperoxaluria type III	AR
HSD17B10	300256	HSD10 mitochondrial disease	XLD
HSD17B4	601860	Perrault syndrome type 1; D-bifunctional protein deficiency	AR
HSD3B2	613890	3-beta-hydroxysteroid dehydrogenase 2 deficiency	AR
HSPA9	600548	Sideroblastic anemia type 4	AD, AR
HSPD1	118190	spastic paraplegia 13; hypomyelinating leukodystrophy-4	AD, AR
HTRA2	606441	Parkinson disease 13; 3-methylglutaconic aciduria, type VIII	AR
IARS2	612801	Cataracts, Growth Hormone Deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia	AR
IBA57	615316	Multiple mitochondrial dysfunctions syndrome 3	AR
IDH2	147650	D-2-hydroxyglutaric aciduria 2
IDH3B	604526	Retinitis pigmentosa 46
ISCA2	615317	Multiple mitochondrial dysfunctions syndrome type 4	AR
ISCU	611911		AR
IVD	607036	isovaleric acidemia	AR
KARS1	601421	CHARCOT-MARIE-TOOTH, RECESSIVE INTERMEDIATE TYPE B; Deafness, autosomal recessive 89	AR
KIF1B	605995	type 2A1 Charcot-Marie-Tooth disease; pheochromocytoma	AD
KRT5	148040	epidermolysis bullosa simplex, Dowling-Meara type; Epidermolysis bullosa simplex, Weber-Cockayne type; Epidermolysis bullosa simplex, recessive 1	AD, AR
L2HGDH	609584	L-2-hydroxyglutaric aciduria	AR
LARS2	604544	Perrault syndrome 4; Hydrops, lactic acidosis, and sideroblastic anemia	AR
LIAS	607031	Pyruvate dehydrogenase lipoic acid synthetase deficiency	AR
LIPT1	610284	Lipoyltransferase 1 deficiency	AR
LONP1	605490	CODAS syndrome	AR
LRPPRC	607544	Leigh syndrome, French-Canadian type	AR
LYRM7	615831	Mitochondrial complex III deficiency nuclear type 8	AR
MAOA	309850	Brunner syndrome	XLR
MARS2	609728		AR
MCCC1	609010	3-Methylcrotonyl-CoA carboxylase 1 deficiency	AR
MCCC2	609014	3-methylcrotonyl-CoA carboxylase 2 deficiency	AR
MCEE	608419	Methylmalonyl-coa epimerase deficiency	AR
MFN2	608507	hereditary motor and sensory neuropathy type VIA with optic atrophy; axonal Charcot-Marie-Tooth disease type 2A2A; axonal Charcot-Marie-Tooth disease type 2A2B	AD, AR
MGME1	615076	mitochondrial DNA depletion syndrome 11	AR
MICU1	605084	Myopathy with extrapyramidal signs	AR
MIP	154050		AD
MLH1	120436	Muir-Torre syndrome; mismatch repair cancer syndrome; hereditary nonpolyposis colorectal cancer-2	AD, AR
MLYCD	606761	Malonyl-CoA decarboxylase deficiency	AR
MMAA	607481	methylmalonic aciduria (MMA) of the cblA complementation type	AR
MMAB	607568	methylmalonic aciduria (MMA) of the cblB complementation type	AR
MMACHC	609831	Methylmalonic aciduria and homocystinuria, cblC type, digenic type included	AR
MMADHC	611935	methylmalonic aciduria (MMA) of the cblD complementation type	AR
MMUT	609058	complete deficiency of methylmalonyl-CoA mutase	AR
MOCS1	603707	molybdenum cofactor deficiency of complementation group A	AR
MPC1	614738		AR
MPV17	137960	mitochondrial DNA depletion syndrome type 6	AR
MRPL3	607118	Combined oxidative phosphorylation deficiency 9	AR
MRPL44	611849	combined oxidative phosphorylation deficiency type 16	AR
MRPS16	609204	combined oxidative phosphorylation deficiency 2	AR
MRPS22	605810	Combined oxidative phosphorylation deficiency 5	AR
MSRB3	613719	Deafness, autosomal recessive 74	AR
MTFMT	611766	Combined oxidative phosphorylation deficiency 15	AR
MTO1	614667	Combined oxidative phosphorylation deficiency 10	AR
MTPAP	613669		AR
MTRR	602568	Homocystinuria-Megaloblastic Anemia, Cble Complementation Type; folate-sensitive neural tube defects	AR
MUTYH	604933	familial adenomatous polyposis type 2; Gastric Cancer	AR
NADK2	615787		AR
NAGS	608300	N-acetylglutamate synthase deficiency	AR
NARS2	612803	Combined oxidative phosphorylation deficiency 24	AR
NBAS	608025	Short stature, optic nerve atrophy, and Pelger-Huet anomaly; Infantile liver failure syndrome type 2	AR
NDUFA1	300078		XLR
NDUFA10	603835		AR
NDUFA11	612638		AR
NDUFA12	614530	Mitochondrial complex I deficiency nuclear type 23	AR
NDUFA2	602137		AR
NDUFA9	603834		AR
NDUFAF1	606934		AR
NDUFAF2	609653	Mitochondrial complex I deficiency nuclear type 10	AR
NDUFAF3	612911		AR
NDUFAF4	611776		AR
NDUFAF5	612360		AR
NDUFAF6	612392		AR
NDUFB11	300403	Linear skin defects with multiple congenital anomalies type 3; Mitochondrial complex I deficiency, nuclear type 30	XL, XLD
NDUFB3	603839		AR
NDUFB9	601445		AR
NDUFS1	157655		AR
NDUFS2	602985		AR
NDUFS3	603846		AR
NDUFS4	602694	mitochondrial complex I deficiency	AR
NDUFS6	603848		AR
NDUFS7	601825	Mitochondrial complex I deficiency, nuclear type 3	AR
NDUFS8	602141		AR
NDUFV1	161015		AR
NDUFV2	600532		AR
NFU1	608100	Multiple mitochondrial dysfunctions syndrome 1	AR
NNT	607878	Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency	AR
NTHL1	602656	Familial adenomatous polyposis 3	AR
NUBPL	613621		AR
OAT	613349	Gyrate atrophy of choroid and retina with or without ornithinemia	AR
OGDH	613022		AR
OGG1	601982	Renal carcinoma, chromophobe, somatic
OPA1	605290	Optic atrophy plus syndrome; optic atrophy type 1; Behr syndrome; Glaucoma, normal tension, susceptibility to; Mitochondrial DNA depletion syndrome 14	AD, AR
OPA3	606580	Optic atrophy type 3 with cataract; 3-methylglutaconic aciduria type III	AD, AR
OTC	300461	ornithine transcarbamylase deficiency	XLR
OXCT1	601424	Succinyl CoA:3-oxoacid CoA transferase deficiency	AR
P4HB	176790	Cole-Carpenter syndrome 1	AD
PAM16	614336		AR
PANK2	606157	neurodegeneration with brain iron accumulation type 1; HARP syndrome	AR
PARK7	602533	Parkinson disease 7	AR
PC	608786	pyruvate carboxylase deficiency	AR
PCCA	232000	propionic acidemia	AR
PCCB	232050	propionic acidemia	AR
PCK2	614095	PEPCK deficiency, mitochondrial	AR
PDHA1	300502	Pyruvate dehydrogenase E1-alpha deficiency	XLD
PDHB	179060	Pyruvate dehydrogenase E1-beta deficiency
PDHX	608769	Lacticacidemia due to PDX1 deficiency	AR
PDK3	300906	type X6 Charcot-Marie-Tooth	XLD
PDP1	605993	Pyruvate dehydrogenase phosphatase deficiency	AR
PDSS1	607429	Coenzyme Q10 deficiency, primary, 2	AR
PDSS2	610564	Coenzyme Q10 deficiency, primary, 3	AR
PDX1	600733	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Pancreatic Agenesis, Congenital; MODY type 4	AD, AR
PET100	614770	Mitochondrial complex IV deficiency	AR, M
PEX11B	603867	peroxisome biogenesis disorder 14B (Zellweger)	AR
PHYH	602026	Refsum disease	AR
PINK1	608309	Parkinson disease 6	AR
PKLR	609712	pyruvate kinase deficiency	AD, AR
PNPLA8	612123	Mitochondrial myopathy with lactic acidosis	AR
PNPO	603287	Pyridoxamine 5'-phosphate oxidase deficiency	AR
PNPT1	610316	Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70	AR
POLG	174763	progressive external ophthalmoplegia; mitochondrial DNA depletion syndrome type 4A; autosomal recessive progressive external ophthalmoplegia; sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; mitochondrial DNA depletion syndrome type 4B	AD, AR
POLG2	604983	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	AD, AR
PPOX	600923	variegate porphyria	AD
PRODH	606810	Hyperprolinemia, type I; susceptibility to Schizophrenia, 4	AD, AR
PTRH2	608625	infantile-onset multisystem neurologic, endocrine, and pancreatic disease	AR
PTS	612719	Hyperphenylalaninemia, BH4-deficient, A	AR
PUS1	608109	myopathy, lactic acidosis and sideroblastic anemia type 1	AR
PYCR1	179035	autosomal recessive cutis laxa type 2B	AR
PYCR2	616406	hypomyelinating leukodystrophy-10	AR
QDPR	612676	Hyperphenylalaninemia, BH4-deficient, C	AR
RARS1	107820	hypomyelinating leukodystrophy-9	AR
RARS2	611524	pontocerebellar hypoplasia type 6	AR
RDH11	607849		AR
RMND1	614917	Combined oxidative phosphorylation deficiency 11	AR
RNASEH1	604123		AR
RNASEL	180435	Prostate Cancer, Hereditary, 1	AD
RPIA	180430		AR
RPL35A	180468	Diamond-Blackfan anemia 5	AD
RPS14	130620
RRM2B	604712	mitochondrial DNA depletion syndrome 8A; progressive external ophthalmoplegia with mitochondrial DNA deletions 5	AD, AR
SARS2	612804	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis	AR
SBDS	607444	Shwachman-Bodian-Diamond syndrome; Aplastic Anemia	AR
SCO1	603644	Mitochondrial complex IV deficiency	AR, M
SCO2	604272	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6	AD, AR
SDHA	600857	mitochondrial complex II deficiency; Leigh syndrome; dilated cardiomyopathy-1GG; paragangliomas type 5	AD, AR, M
SDHAF1	612848	mitochondrial complex II deficiency	AR
SDHAF2	613019	paragangliomas type 2	AD
SDHB	185470	paragangliomas type 4; pheochromocytoma; gastrointestinal stromal tumor; paraganglioma and gastric stromal sarcoma	AD
SDHC	602413	Paragangliomas 3; gastrointestinal stromal tumor; paraganglioma and gastric stromal sarcoma	AD
SDHD	602690	paragangliomas 1; pheochromocytoma; mitochondrial complex II deficiency; paraganglioma and gastric stromal sarcoma	AD, AR
SECISBP2	607693	Thyroid hormone metabolism, abnormal	AR
SERAC1	614725	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL syndrome).	AR
SFXN4	615564	Combined oxidative phosphorylation deficiency 18	AR
SLC16A1	600682	Monocarboxylate transporter 1 deficiency	AD, AR
SLC19A3	606152	biotin-thiamine-responsive basal ganglia disease	AR
SLC25A1	190315	Combined D-2- and L-2-hydroxyglutaric aciduria	AR
SLC25A12	603667	Epileptic encephalopathy, early infantile, 39	AR
SLC25A13	603859	Citrullinemia, Type Ii, Adult-Onset; Citrullinemia, type II, neonatal-onset	AR
SLC25A15	603861	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	AR
SLC25A19	606521	Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)	AR
SLC25A20	613698	Carnitine-acylcarnitine translocase deficiency	AR
SLC25A22	609302	early infantile epileptic encephalopathy 3	AR
SLC25A3	600370
SLC25A38	610819	Anemia, sideroblastic, 2, pyridoxine-refractory	AR
SLC25A4	103220	Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 2; mitochondrial DNA depletion syndrome 12; mitochondrial DNA depletion syndrome type 12A	AD, AR
SLC25A46	610826	Neuropathy, hereditary motor and sensory, type VIB	AR
SLC9A6	300231	Christianson type of X-linked syndromic mental retardation	XLD
SNAP29	604202	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	AR
SOD1	147450	amyotrophic lateral sclerosis 1	AD, AR
SOD2	147460	Microvascular complications of diabetes 6
SPG7	602783	spastic paraplegia 7	AD, AR
SPR	182125	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	?AD, AR
SPTLC2	605713	Neuropathy, hereditary sensory and autonomic, type ic	AD
STAR	600617	Lipoid adrenal hyperplasia	AR
SUCLA2	603921	mitochondrial DNA depletion syndrome 5	AR
SUCLG1	611224	mitochondrial DNA depletion syndrome 9	AR
SUGCT	609187		AR
SUOX	606887	Sulfite oxidase deficiency	AR
SURF1	185620	Leigh syndrome	AR, M
TACO1	612958	Mitochondrial complex IV deficiency	AR, M
TARS2	612805	Combined oxidative phosphorylation deficiency 21	AR
TCIRG1	604592	osteopetrosis type 1	AR
TFR2	604720	hemochromatosis type 3	AR
TIMM8A	300356	Mohr-Tranebjaerg syndrome	XLR
TK2	188250	mitochondrial DNA depletion syndrome 2	AR
TMEM126A	612988	Optic Atrophy 7	AR
TMEM70	612418	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2	AR
TMLHE	300777	susceptibility to autism type 6	XLR
TPI1	190450	Triosephosphate isomerase deficiency	AR
TPK1	606370	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	AR
TRMU	610230	Deafness, Aminoglycoside-Induced; Liver Failure, Infantile, Transient	AR, M
TRNT1	612907	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	AR
TSFM	604723	Combined oxidative phosphorylation deficiency 3	AR
TTC19	613814	nuclear mitochondrial complex III deficiency type 2	AR
TUBB3	602661	Fibrosis of extraocular muscles, congenital, 3A; Cortical dysplasia, complex, with other brain malformations	AD
TUFM	602389	Combined oxidative phosphorylation deficiency 4	AR
TWNK	606075	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Progressive external ophthalmoplegia, autosomal dominant, 3	AD, AR
TYMP	131222	mitochondrial DNA depletion syndrome 1	AR
UNG	191525	Immunodeficiency with hyper IgM, type 5	AR
UQCC2	614461		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
VARS2	612802	Combined oxidative phosphorylation deficiency 20	AR
WDR81	614218	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	AR
WFS1	606201	congenital nuclear cataract type 41; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Wolfram syndrome; Deafness, autosomal dominant 6/14/38; Wolfram-like syndrome	AD, AR
XPNPEP3	613553	nephronophthisis-like nephropathy 1	AR
YARS2	610957	Myopathy, lactic acidosis, and sideroblastic anemia 2	AR

Common syndromes and disorders covered

Chronic progressive external ophthalmoplegia

Kearns-Sayre syndrome

Leigh’s syndrome and maternally inherited Leigh’s syndrome

Mitochondrial disorders

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes

Myoclonus epilepsy with ragged red fibers

Myogastrointestinal encephalomyopathy

NARP

Neonatal mitochondrial hepatopathies

Pearson syndrome

CentoMito® Genome

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

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

CentoMito® brochure
Download

Common syndromes and disorders covered

Chronic progressive external ophthalmoplegia

Kearns-Sayre syndrome

Leber hereditary optic neuropathy

Leigh-like syndrome

Leigh syndrome

Mitochondrial disorders

NARP

Diabetes and obesity panel

Our diabetes and obesity panel is recommended for patients with abnormalities in glucose metabolism, such as hyperinsulinemic hypoglicemia, diabetes neonatal, MODY, diabetes in adults, and familial hypercholesterolemia as well as for patients displaying insulin resistance, from mild to the severe spectrum (Donohue syndrome), and for patients with familial hyperinsulinism. Disorders caused by imprinting errors or uniparental disomy such as 6q24-related transient neonatal diabetes mellitus and Beckwith Wiedemann syndrome are not detected wtih this panel.

No. of genes:	196
TAT:	25 days
Coverage:	≥99.5% ≥20x
Details:	CNV analysis included MLPA: 15q11

Overview of genes and associated diseases (OMIM) included in this panel:

Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
ABCA1	600046	Tangier disease; HDL deficiency, type 2	AR
ABCC8	600509	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; leucine-sensitive hypoglycemia of infancy; familial hyperinsulinemic hypoglycemia type 1; transient neonatal diabetes mellitus type 2	AD, AR
ACAT1	607809	alpha-methylacetoacetic aciduria	AR
ACSF3	614245	Combined malonic and methylmalonic aciduria
AFF4	604417	CHOPS syndrome	AD
AGL	610860	glycogen storage disease type III	AR
AKT2	164731	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Hypoinsulinemic hypoglycemia with hemihypertrophy	AD
ALDOA	103850	Glycogen storage disease XII	AR
ALDOB	612724	hereditary fructose intolerance	AR
ALG1	605907	congenital disorder of glycosylation type 1k	AR
ALG11	613666	congenital disorder of glycosylation type 1p	AR
ALG12	607144	congenital disorder of glycosylation type 1g	AR
ALG13	300776	congenital disorder of glycosylation type 1s	XLD
ALG2	607905	congenital disorder of glycosylation type 1i	AR
ALG3	608750	congenital disorder of glycosylation type 1d	AR
ALG6	604566	congenital disorder of glycosylation type 1c	AR
ALG8	608103	congenital disorder of glycosylation type 1h	AD, AR
ALG9	606941	Gillessen-Kaesbach-Nishimura syndrome; congenital disorder of glycosylation type 1l	AR
APOA1	107680	Amyloidosis, familial visceral	AD
APOA5	606368	HYPERLIPOPROTEINEMIA, TYPE V; Hypertriglyceridemia, susceptibility to	AD
APOB	107730	Hypercholesterolemia, Type B; Hypobetalipoproteinemia	AD, AR
APOC2	608083	Apolipoprotein C-Ii Deficiency	AR
APOE	107741	Alzheimer Disease 2; Sea-blue histiocyte disease; Macular Degeneration, Age-Related, 1; early-onset familial Alzheimer disease-3; Lipoprotein glomerulopathy	AD, AR
ARL13B	608922	Joubert syndrome 8	AR
ARL6	608845	Bardet-Biedl syndrome type 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55	AR, DiR
ATP6V0A2	611716	autosomal recessive cutis laxa type IIA; Wrinkly skin syndrome	AR
B4GALT1	137060	congenital disorder of glycosylation type 2d	AR
BBS1	209901	Bardet-Biedl syndrome type 1	AR, DiR
BBS10	610148	Bardet-Biedl syndrome type 10	AR
BBS12	610683	Bardet-Biedl syndrome type 12	AR
BBS2	606151	Bardet-Biedl syndrome type 2; retinitis pigmentosa type 74	AR
BBS4	600374	Bardet-Biedl syndrome 4	AR
BBS5	603650	Bardet-Biedl syndrome 5	AR
BBS7	607590	Bardet-Biedl syndrome type 7	AR
BBS9	607968	Bardet-Biedl syndrome type 9	AR
BDNF	113505
BLK	191305	MODY type 11	AD
C8orf37	614477	Cone-rod dystrophy 16; Bardet-Biedl syndrome type 21	AR
CC2D2A	612013	COACH syndrome; Meckel syndrome 6; Joubert syndrome 9	AR
CCDC28B	610162	Bardet-Biedl syndrome type 1	AR, DiR
CEL	114840	MODY type 8	AD
CEP164	614848	nephronophthisis 15	AR
CEP290	610142	Joubert syndrome type 5; Senior-Loken syndrome type 6; Meckel syndrome type 4; Leber congenital amaurosis type 10; Bardet-Biedl syndrome type 14	AR
CHD2	602119	childhood-onset epileptic encephalopathy	AD
CISD2	611507	Wolfram syndrome 2	AR
COG1	606973	Congenital disorder of glycosylation, type IIg	AR
COG4	606976	congenital disorder of glycosylation type 2j; Saul-Wilson syndrome	AD, AR
COG5	606821	Congenital disorder of glycosylation, type IIi	AR
COG6	606977	congenital disorder of glycosylation type 2l; Shaheen syndrome	AR
COG7	606978	Congenital disorder of glycosylation, type IIe	AR
COG8	606979	congenital disorder of glycosylation type 2h
CP	117700	aceruloplasminemia	AR
CREBBP	600140	Rubinstein-Taybi syndrome 1	AD
CUL4B	300304	MENTAL RETARDATION, X-LINKED 15	XLR
CYP27A1	606530	cerebrotendinous xanthomatosis	AR
DDOST	602202	Congenital disorder of glycosylation, type Ir	AR
DHDDS	608172	retinitis pigmentosa type 59; Developmental delay and seizures with or without movement abnormalities	AD, AR
DOLK	610746	congenital disorder of glycosylation type 1m	AR
DPM1	603503	Congenital disorder of glycosylation, type Ie	AR
DPM2	603564	Congenital disorder of glycosylation, type Iu	AR
DPM3	605951	congenital disorder of glycosylation, type Io	AR
DYRK1B	604556	Abdominal obesity-metabolic syndrome 3	AD
EIF2AK3	604032	Wolcott-Rallison syndrome	AR
ENO3	131370	Glycogen storage disease XIII	AR
ENPP1	173335	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Arterial calcification, generalized, of infancy, 1; OBESITY; Hypophosphatemic rickets, autosomal recessive, 2; Cole disease	AD, AR
EPM2A	607566	Epilepsy, progressive myoclonic 2A (Lafora); Epilepsy, progressive myoclonic 2B (Lafora)	AR
FBP1	611570	Fructose-1,6-bidphosphatase deficiency	AR
FOXP3	300292	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked	XLR
G6PC	613742	glycogen storage disease type IA	AR
GAA	606800	Pompe disease	AR
GATA6	601656	Tetralogy of Fallot; Conotruncal Heart Malformations; Pancreatic agenesis and congenital heart defects; Atrioventricular septal defect 5; Atrial septal defect 9	AD
GBE1	607839	storage disease type 4; Polyglucosan body disease, adult form	AR
GCK	138079	MODY type 2; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Hyperinsulinemic hypoglycemia, familial, 3; permanent neonatal diabetes mellitus	AD, AR
GHR	600946	familial hypercholesterolemia; Laron syndrome; Increased responsiveness to growth hormone	AD, AR
GLI3	165240	Pallister-Hall syndrome; Polydactyly, postaxial, types A1 and B; Preaxial polydactyly type IV; Greig cephalopolysyndactyly syndrome	AD
GLIS3	610192	Diabetes mellitus, neonatal, with congenital hypothyroidism	AR
GLUD1	138130	familial hyperinsulinemic hypoglycemia-6	AD
GMPPA	615495	Alacrima, achalasia, and mental retardation syndrome	AR
GNAS	139320	Pseudohypoparathyroidism Ia; Osseous heteroplasia, progressive; McCune-Albright syndrome, somatic, mosaic; ACTH-independent macronodular adrenal hyperplasia; Pseudohypoparathyroidism type Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism	AD
GNE	603824	Sialuria; Nonaka myopathy	AD, AR
GPIHBP1	612757	Hyperlipoproteinemia, type 1D	AR
GYG1	603942	Glycogen storage disease XV; Polyglucosan body myopathy 2	AR
GYS1	138570	Glycogen storage disease 0, muscle	AR
GYS2	138571	Glycogen storage disease 0, liver	AR
HADH	601609	3-hydroxyacyl-CoA dehydrogenase deficiency; familial hyperinsulinemic hypoglycemia type 4	AR
HEXA	606869	Tay-Sachs disease/ GM2-gangliosidosis	AR
HMGCL	613898	HMG-CoA lyase deficiency	AR
HMGCS2	600234	HMG-CoA synthase-2 deficiency	AR
HNF1A	142410	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Renal carcinoma, chromophobe, somatic; Diabetes mellitus, insulin-dependent-1; MODY type 3	AD, AR
HNF1B	189907	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; MODY type 5; Renal carcinoma, chromophobe, somatic	AD
HNF4A	600281	MODY type 1; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young	AD
IER3IP1	609382	Microcephaly, epilepsy, and diabetes syndrome	AR
IFT172	607386	Short-rib thoracic dysplasia 10 with or without polydactyly	AR
IFT27	615870	Bardet-Biedl syndrome 19	AR
INPP5E	613037	Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis	AR
INS	176730	Diabetes Mellitus, Insulin-Dependent, 2; MODY type 10	AD, AR
INSR	147670	Donohue syndrome; Rabson-Mendenhall syndrome; Hyperinsulinemic hypoglycemia, familial, 5; Diabetes mellitus, insulin-resistant, with acanthosis nigricans	AD, AR
KCNJ11	600937	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; familial hyperinsulinemic hypoglycemia type 2; transient neonatal diabetes mellitus type 3; MODY type 13	AD, AR
KIF7	611254	Acrocallosal syndrome; Joubert syndrome 12; Hydrolethalus syndrome 2	AR
KLF11	603301	MODY type 7
LAMP2	309060	Danon disease	XLD
LARGE1	603590	congenital muscular dystrophy-dystroglycanopathy with mental retardation type B6; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	AR
LDHA	150000	Glycogen storage disease XI	AR
LDLR	606945	familial hypercholesterolemia	AD
LDLRAP1	605747	Hypercholesterolemia, Autosomal Recessive	AR
LEP	164160	Leptin deficiency	AR
LEPR	601007	Morbid obesity due to leptin receptor deficiency	AR
LIPA	613497	Wolman disease / cholesteryl ester storage disease	AR
LIPE	151750	Lipodystrophy, familial partial, type 6	AR
LPL	609708	familial combined hyperlipidemia; lipoprotein lipase deficiency	AD, AR
LZTFL1	606568	Bardet-Biedl syndrome 17	AR
MAGEL2	605283	Schaaf-Yang syndrome	AD
MAN1B1	604346	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	AR
MC4R	155541		AD, AR
MGAT2	602616	Congenital disorder of glycosylation, type IIa	AR
MKKS	604896	McKusick-Kaufman syndrome; Bardet-Biedl syndrome type 6	AR
MKS1	609883	Meckel syndrome type 1; Bardet-Biedl syndrome type 13; Joubert syndrome type 28	AR
MOGS	601336	congenital disorder of glycosylation type 2b	AR
MPDU1	604041	congenital disorder of glycosylation type 1f	AR
MPI	154550	congenital disorder of glycosylation type 1b	AR
MPV17	137960	mitochondrial DNA depletion syndrome type 6	AR
MTTP	157147	Abetalipoproteinemia; protection against metabolic syndrome	AD, AR
MYO5A	160777	Griscelli syndrome, type 1	AR
MYO7A	276903	Usher syndrome type 1B; deafness type 2; autosomal dominant deafness type 11	AD, AR
NDN	602117	Prader-Willi syndrome	AD
NEUROD1	601724	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; MODY type 6	AD
NEUROG3	604882	Diarrhea 4, malabsorptive, congenital	AR
NGLY1	610661	Congenital disorder of deglycosylation	AR
NHLRC1	608072	Epilepsy, progressive myoclonic 2A (Lafora); Epilepsy, progressive myoclonic 2B (Lafora)	AR
NPHP1	607100	nephronophthisis 1; Joubert syndrome 4	AR
NPHP3	608002	Renal-hepatic-pancreatic dysplasia 1; Meckel syndrome 7; nephronophthisis 3	AR
NR0B2	604630	OBESITY	AD, AR
NTRK2	600456	Obesity, hyperphagia, and developmental delay; early infantile epileptic encephalopathy type 58	AD
OFD1	300170	Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1	XLD, XLR
OXCT1	601424	Succinyl CoA:3-oxoacid CoA transferase deficiency	AR
PAX4	167413	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Maturity-onset diabetes of the young, type IX	AD, AR
PC	608786	pyruvate carboxylase deficiency	AR
PCK1	614168	Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency	AR
PCNT	605925	microcephalic osteodysplastic primordial dwarfism type 2	AR
PCSK1	162150	Obesity with impaired prohormone processing	AR
PCSK9	607786	hypercholesterolemia-3	AD
PDX1	600733	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Pancreatic Agenesis, Congenital; MODY type 4	AD, AR
PFKM	610681	Glycogen storage disease type VII	AR
PGAM2	612931	Glycogen storage disease X	AR
PGK1	311800	Phosphoglycerate kinase 1 deficiency	XLR
PGM1	171900	congenital disorder of glycosylation type 1t	AR
PHF6	300414	Borjeson-Forssman-Lehmann syndrome	XLR
PHKA1	311870	Muscle glycogenosis	XLR
PHKA2	300798	glycogen storage disease type IX	XLR
PHKB	172490	Glycogen storage disease IXb; Phosphorylase kinase deficiency of liver and muscle	AR
PHKG2	172471	Glycogen storage disease IXc	AR
PMM2	601785	congenital disorder of glycosylation type 1a	AR
PNPLA6	603197	Boucher-Neuhauser syndrome; spastic paraplegia 39	AR
POMC	176830	OBESITY; Proopiomelanocortin Deficiency	AD, AR
PPARG	601487	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; OBESITY; Lipodystrophy, familial partial, type 3	AD, AR
PRKAG2	602743	Wolff-Parkinson-White syndrome; fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease; familial hypertrophic cardiomyopathy 6	AD
PROM1	604365	Stargardt disease 4; Macular dystrophy, retinal, 2; Retinitis pigmentosa 41; Cone-rod dystrophy 12	AD, AR
PRPH2	179605	Retinitis punctata albescens; Patterned dystrophy of retinal pigment epithelium (macular dystrophy); Retinitis pigmentosa 7; vitelliform macular dystrophy-3; Choriodal dystrophy, central areolar 2	AD, AR
PTF1A	607194	Pancreatic Agenesis 2	AR
PYGL	613741	glycogen storage disease type 6	AR
PYGM	608455	glycogen storage disease type 5	AR
RAB23	606144	Carpenter syndrome	AR
RAI1	607642	Smith-Magenis syndrome	AD
RBCK1	610924	Polyglucosan body myopathy 1 with or without immunodeficiency	AR
RDH5	601617	Retinitis punctata albescens	AD, AR
RFT1	611908	congenital disorder of glycosylation type 1n	AR
RFX6	612659	Mitchell-Riley syndrome	AR
RHO	180380	Retinitis punctata albescens; Night blindness, congenital stationary, autosomal dominant 1; Retinitis Pigmentosa 4	AD, AR
RLBP1	180090	Retinitis punctata albescens	AD, AR
RPGRIP1L	610937	COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5	AR
RPS6KA3	300075	MENTAL RETARDATION, X-LINKED 19; Coffin-Lowry syndrome	XLD
SDCCAG8	613524	Senior-Loken syndrome 7; Bardet-Biedl syndrome 16	AR
SIM1	603128
SLC16A1	600682	Monocarboxylate transporter 1 deficiency	AD, AR
SLC19A2	603941	Thiamine-responsive megaloblastic anemia syndrome	AR
SLC2A2	138160	noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Fanconi-Bickel syndrome	AD, AR
SLC35A1	605634	Congenital disorder of glycosylation, type IIf	AR
SLC35A2	314375	congenital disorder of glycosylation type 2m	XLD
SLC35C1	605881	Congenital disorder of glycosylation, type IIc	AR
SPG11	610844	Amyotrophic lateral sclerosis 5, juvenile; spastic paraplegia type 11; Charcot-Marie-Tooth disease, axonal, type 2X	AR
SRD5A3	611715	congenital disorder of glycosylation type 1q; Kahrizi syndrome	AR
SSR4	300090	congenital disorder of glycosylation type 1y	XLR
STT3A	601134	congenital disorder of glycosylation type 1w	AR
STT3B	608605	Congenital disorder of glycosylation, type Ix	AR
TMEM165	614726	Congenital disorder of glycosylation, type IIk	AR
TMEM67	609884	COACH syndrome; Meckel Syndrome, Type 3; Joubert syndrome 6; nephronophthisis 11; Bardet-Biedl syndrome type 14	AR
TRIM32	602290	limb-girdle muscular dystrophy type 2H; Bardet-Biedl syndrome 11	AR
TTC21B	612014	Short-rib thoracic dysplasia 4 with or without polydactyly; nephronophthisis 12	AD, AR
TTC8	608132	retinitis pigmentosa type 51; Bardet-Biedl syndrome type 8	AR
TUSC3	601385	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7	AR
UCP2	601693
UCP3	602044	OBESITY	AD, AR
VPS13B	607817	Cohen syndrome	AR
WDPCP	613580	Bardet-Biedl syndrome 15	AR
WFS1	606201	congenital nuclear cataract type 41; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Wolfram syndrome; Deafness, autosomal dominant 6/14/38; Wolfram-like syndrome	AD, AR
ZFP57	612192	Diabetes mellitus, transient neonatal, 1	AD

Metabolic Disorders

CentoICU®

CentoICU® brochure

Overview of genes and associated diseases (OMIM) included in this panel:

Common syndromes and disorders covered

Alagille syndrome

Alpha-Thalassemia

Arginase deficiency

Beta-Thalassemia

Biotinidase deficiency

Biotin-thiamine-responsive basal ganglia disease

Carnitine deficiency

Cystic Fibrosis

Dystonia DOPA responsive

Factor VII deficiency

Glucose transporter 1 deficiency

Glutaric acidemia Type 1

Hereditary fructose intolerance

Holocarboxylase synthetase deficiency

Maple syrup urine disease (MSUD)

Non ketotic hyperglicinemia

Phenylketonuria

Pompe disease

Primary coenzyme Q10 deficiency

Pyridoxamine 5 phosphate oxidase deficiency

Pyridoxine-dependent epilepsy

Pyruvate carboxylase deficiency

Tuberous sclerosis complex

Tyrosinemia type I

VLCAD deficiency

*List does not include all disorders covered by our panel

CentoIEM

Overview of genes and associated diseases (OMIM) included in this panel:

Common syndromes and disorders covered

Aicardi-Goutieres syndrome

Autoimmune lymphoproliferative syndrome

Ceroid lipofuscinosis

Congenital glycosylation disease

Fatty acid oxidation disorder

Familial hypercholesterolemia

Glycogen storage disease

Hemophagocytic lymphohistiocytosis

Hereditary hemochromatosis

Hereditary spherocytosis

Leigh syndrome and mitochondrial encephalopathy

Leukodystrophy and peroxisome biogenesis disorders

Lipodystrophy syndromes

Lysosomal storage disease

Maple syrup urine disease

Methylmalonic acidemia

Mucopolysaccharidosis

Neurodegeneration with Brain Iron Accumulation

Non-ketotic hyperglycinemia

Porphyria

Refsum disease

Urea cycle disorder

CentoMetabolic®

Overview of genes and associated diseases (OMIM) included in this panel:

Common syndromes and disorders covered

Most common metabolic disorders

Available downloads for CentoMetabolic®

CentoMetabolic® - One pager

CentoMito® Comprehensive

CentoMito® brochure

Overview of genes and associated diseases (OMIM) included in this panel:

Common syndromes and disorders covered

Chronic progressive external ophthalmoplegia

Kearns-Sayre syndrome

Leigh’s syndrome and maternally inherited Leigh’s syndrome

Mitochondrial disorders

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes

Myoclonus epilepsy with ragged red fibers

Myogastrointestinal encephalomyopathy

NARP

Neonatal mitochondrial hepatopathies

Pearson syndrome

CentoMito® Genome

CentoMito® brochure

Common syndromes and disorders covered

Chronic progressive external ophthalmoplegia