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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.
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. |
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 |
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 |
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 |
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 |
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 |
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 |
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 |