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  1. Metabolic Disorders

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


AVAILABLE DOWNLOADS FOR CentoICU®

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

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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

Common syndromes and disorders covered

Most common metabolic disorders

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CentoMito® Comprehensive

CentoMito® Comprehensive covers the entire mitochondrial genome (≥97% ≥ 200x coverage) with detection of heteroplasmy down to 5% along with nuclear genes related to mitochondrial diseases (≥99.5% ≥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

 


AVAILABLE DOWNLOADS FOR CentoMito® Comprehensive

  • Pediatric Neurology panels - Product sheet

    Download

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

AVAILABLE DOWNLOADS FOR CENTOMITO® Genome

  • Pediatric Neurology panels - Product sheet

    Download

Diabetes and obesity panel

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

No. of genes:196
TAT:25 days
Coverage:≥99.5% ≥20x
Details:

CNV analysis included
MLPA: 15q11


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

COMMON SYNDROMES AND DISORDERS COVERED

Bardet-Biedl syndrome
Congenital glycosylation disease
Congenital hyperinsulinism
Familial hypercholesterolemia
Hypoglycemia
Maturity onset diabetes of the young
Neonatal diabetes
Obesity

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