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Neurology

Clear diagnosis with genetic testing is the basis of effective treatment and management for many disorders of the brain and nervous system. Serving as an invaluable tool, genetic testing enables the identification of inherited neurological conditions, such as delayed mental development, neurodegeneration, learning disabilities, movement disorders, and muscle control. With knowledge of variants associated with neurological diseases in more than 1,850 genes, our vast knowledge and diagnostic expertise can help you diagnose your patients quickly and comprehensively.

Ataxia panel

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

No. of genes:186
TAT:25 days
Coverage:≥99.5% ≥20x
Details:Next-generation sequencing with CNV analysis included

Gene OMIM (Gene) Associated diseases (OMIM) Inheritance
ABCB7 300135 Anemia, Sideroblastic, and Spinocerebellar Ataxia XLR
ABHD12 613599 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract AR
ABHD5 604780 Chanarin-Dorfman syndrome AR
ACADVL 609575 very long chain acyl-CoA dehydrogenase deficiency AR
ACO2 100850 Infantile cerebellar-retinal degeneration AR
AFG3L2 604581 spinocerebellar ataxia 28; spastic ataxia 5 AD, AR
AHI1 608894 Joubert syndrome 3 AR
ALDH5A1 610045 Succinic semialdehyde dehydrogenase deficiency AR
AMACR 604489 Alpha-methylacyl-CoA racemase deficiency AR
ANO10 613726 autosomal recessive spinocerebellar ataxia 10 AR
AP1S2 300629 Pettigrew syndrome XLR
APTX 606350 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia AR
ARL13B 608922 Joubert syndrome 8 AR
ARL6 608845 Bardet-Biedl syndrome type 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 AR, DiR
ARSA 607574 metachromatic leukodystrophy AR
ATCAY 608179 Ataxia, cerebellar, Cayman type AR
ATM 607585 familial breast-ovarian cancer type 2; ataxia-telangiectasia AD, AR
ATN1 607462 Dentatorubro-pallidoluysian atrophy; congenital hypotonia, epilepsy, developmental delay, and digital anomalies AD
ATP13A2 610513 Kufor-Rakeb syndrome; spastic paraplegia type 78 AR
ATP1A3 182350 Dystonia 12; Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; Alternating hemiplegia of childhood 2 AD
ATP2B3 300014 spinocerebellar ataxia, X-linked 1 XLR
ATP8A2 605870 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 AR
B9D1 614144 Meckel Syndrome, Type 9 AR
BBS1 209901 Bardet-Biedl syndrome type 1 AR, DiR
BBS12 610683 Bardet-Biedl syndrome type 12 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
CA8 114815 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 AR
CACNA1A 601011 episodic ataxia type 2; familial hemiplegic migraine 1; spinocerebellar ataxia 6; early infantile epileptic encephalopathy, 42 AD
CACNB4 601949 Epilepsy, Idiopathic Generalized, Susceptibility To, 9; Episodic ataxia, type 5 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
CC2D2A 612013 COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 AR
CCDC88C 611204 Hydrocephalus, nonsyndromic, autosomal recessive 1; spinocerebellar ataxia type 40 AD, 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
CEP41 610523 Joubert syndrome 15 AR
CHMP1A 164010 pontocerebellar hypoplasia 8 AR
CLCN2 600570 Epilepsy, Idiopathic Generalized, Susceptibility To, 11; Leukoencephalopathy with ataxia AD, AR
CLN5 608102 neuronal ceroid lipofuscinosis type 5 AR
CLN6 606725 adulte onset neuronal ceroid lipofuscinosis, Kufs type; neuronal ceroid lipofuscinosis type 6 AR
CLPP 601119 Perrault syndrome 3 AR
COASY 609855 Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia type 12 AR
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
COX20 614698 Mitochondrial complex IV deficiency AR, M
CP 117700 aceruloplasminemia AR
CPLANE1 614571 oral-facial-digital syndrome 6; Joubert syndrome 17 AR
CSPP1 611654 Joubert syndrome 21 AR
CWF19L1 616120 autosomal recessive spinocerebellar ataxia 17 AR
CYP27A1 606530 cerebrotendinous xanthomatosis AR
DARS2 610956 leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation AR
DLAT 608770 Pyruvate dehydrogenase E2 deficiency AR
DNAJC19 608977 3-methylglutaconic aciduria, type 5 AR
DNAJC5 611203 neuronal ceroid lipofuscinosis type 4, Parry type AD
DNMT1 126375 cerebellar ataxia, deafness and narcolepsy; Neuropathy, hereditary sensory, type IE AD
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
ELOVL4 605512 Spinocerebellar ataxia 34; Stargardt disease 3; Ichthyosis, spastic quadriplegia, and mental retardation AD, AR
ELOVL5 611805 spinocerebellar ataxia 38 AD
EXOSC3 606489 pontocerebellar hypoplasia type 1B AR
FA2H 611026 spastic paraplegia 35 AR
FBXL4 605654 mitochondrial DNA depletion syndrome 13 AR
FGF14 601515 spinocerebellar ataxia 27 AD
FLVCR1 609144 Ataxia, posterior column, with retinitis pigmentosa AR
FTL 134790 Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3 AD, AR
FXN 606829 Friedreich ataxia AR
GALC 606890 Krabbe disease 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
GBA2 609471 spastic paraplegia 46 AR
GFAP 137780 Alexander disease AD
GJB1 304040 Charcot-Marie-Tooth disease type 1 XLD
GJC2 608803 Leukodystrophy, hypomyelinating, 2; spastic paraplegia 44 AD, AR
GOSR2 604027 Epilepsy, progressive myoclonic 6 AR
GRID2 602368 autosomal recessive spinocerebellar ataxia 18 AR
GRM1 604473 autosomal recessive spinocerebellar ataxia 13; Spinocerebellar ataxia type 44 AD, AR
GSS 601002 Glutathione synthetase deficiency AR
HEPACAM 611642 megalencephalic leukoencephalopathy with subcortical cysts type 2A; megalencephalic leukoencephalopathy with subcortical cysts type 2B, remitting, with or without mental retardation AD, AR
HEXB 606873 Sandhoff disease AR
HIBCH 610690 3-hydroxyisobutryl-CoA hydrolase deficiency AR
INPP5E 613037 Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis AR
ITM2B 603904 Cerebral amyloid angiopathy, itm2b-related, 2; Cerebral amyloid angiopathy, itm2b-related, 1 AD
ITPR1 147265 spinocerebellar ataxia 29; Gillespie syndrome; spinocerebellar ataxia 15 AD, AR
KCNA1 176260 Episodic ataxia/myokymia syndrome AD
KCNC3 176264 spinocerebellar ataxia 13 AD
KCND3 605411 spinocerebellar ataxia 19 AD
KCNJ10 602208 autosomal recessive deafness type 4 with enlarged vestibular aqueduct; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance AR
KIF1A 601255 spastic paraplegia 30; Neuropathy, hereditary sensory, type IIC; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 AD, AR
KIF1C 603060 Spastic ataxia 2, autosomal recessive AR
KIF5A 602821 spastic paraplegia 10; Neonatal intractable myoclonus AD
KIF7 611254 Acrocallosal syndrome; Joubert syndrome 12; Hydrolethalus syndrome 2 AR
LAMA1 150320 Poretti-Boltshauser syndrome AR
LMNB1 150340 Leukodystrophy, adult-onset, autosomal dominant AD
LRPPRC 607544 Leigh syndrome, French-Canadian type AR
MARS2 609728 AR
MKS1 609883 Meckel syndrome type 1; Bardet-Biedl syndrome type 13; Joubert syndrome type 28 AR
MLC1 605908 megalencephalic leukoencephalopathy with subcortical cysts type 1 AR
MRE11 600814 Ataxia-telangiectasia-like disorder type 1 AR
MTFMT 611766 Combined oxidative phosphorylation deficiency 15 AR
MTPAP 613669 AR
MTTP 157147 Abetalipoproteinemia; protection against metabolic syndrome AD, AR
NDUFAF6 612392 AR
NDUFS1 157655 AR
NDUFS2 602985 AR
NDUFS4 602694 mitochondrial complex I deficiency AR
NDUFS7 601825 Mitochondrial complex I deficiency, nuclear type 3 AR
NDUFV1 161015 AR
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
NUBPL 613621 AR
OFD1 300170 Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1 XLD, XLR
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
OPHN1 300127 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance XLR
PANK2 606157 neurodegeneration with brain iron accumulation type 1; HARP syndrome AR
PAX6 607108 Aniridia 1; foveal hypoplasia type 1 AD
PDHX 608769 Lacticacidemia due to PDX1 deficiency AR
PDSS1 607429 Coenzyme Q10 deficiency, primary, 2 AR
PDSS2 610564 Coenzyme Q10 deficiency, primary, 3 AR
PDYN 131340 spinocerebellar ataxia 23 AD
PEX10 602859 peroxisome biogenesis disorder 6A (Zellweger); peroxisome biogenesis disorder 6B AR
PEX2 170993 peroxisome biogenesis disorder type 5A (Zellweger); peroxisome biogenesis disorder type 5B AR
PEX7 601757 Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger) AR
PHYH 602026 Refsum disease AR
PLA2G6 603604 infantile neuroaxonal dystrophy; neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 AR
PLP1 300401 Pelizaeus-Merzbacher disease; spastic paraplegia 2 XLR
PNKD 609023 dystonia 8 AD
PNKP 605610 type 2B2 Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 10 AR
PNPLA6 603197 Boucher-Neuhauser syndrome; spastic paraplegia 39 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
PRICKLE1 608500 Epilepsy, progressive myoclonic 1B AR
PRKCG 176980 spinocerebellar ataxia 14 AD
PRRT2 614386 Episodic kinesigenic dyskinesia 1; Convulsions, familial infantile, with paroxysmal choreoathetosis; Seizures, benign familial infantile, 2 AD
RARS2 611524 pontocerebellar hypoplasia type 6 AR
RPGRIP1L 610937 COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 AR
RRM2B 604712 mitochondrial DNA depletion syndrome 8A; progressive external ophthalmoplegia with mitochondrial DNA deletions 5 AD, AR
RUBCN 613516 autosomal recessive spinocerebellar ataxia 15 AR
SACS 604490 spastic ataxia of Charlevoix-Saguenay AR
SCN2A 182390 benign familial neonatal-infantile seizures type 3; early infantile epileptic encephalopathy 11 AD
SETX 608465 amyotrophic lateral sclerosis 4; autosomal recessive spinocerebellar ataxia 1 AD, AR
SIL1 608005 Marinesco-Sjogren syndrome AR
SLC16A2 300095 Allan-Herndon-Dudley syndrome XL
SLC17A5 604322 infantile sialic acid storage disorder; Salla disease AR
SLC1A3 600111 episodic ataxia type 6 AD
SLC20A2 158378 Basal ganglia calcification, idiopathic, 1 AD
SLC25A46 610826 Neuropathy, hereditary motor and sensory, type VIB AR
SLC2A1 138140 Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility to, 12 AD, AR
SLC52A3 613350 Fazio-Londe disease; Brown-Vialetto-Van Laere syndrome 1 AR
SLC9A6 300231 Christianson type of X-linked syndromic mental retardation XLD
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
SPR 182125 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency ?AD, AR
SPTBN2 604985 spinocerebellar ataxia 5; autosomal recessive spinocerebellar ataxia 14 AD, AR
STUB1 607207 autosomal recessive spinocerebellar ataxia 16; ?Spinocerebellar ataxia 48 AD, AR
SYNE1 608441 autosomal recessive spinocerebellar ataxia 8; Emery-Dreifuss muscular dystrophy 4 AD, AR
TCTN2 613846 Meckel syndrome 8; Joubert syndrome type 24 AR
TGM6 613900 spinocerebellar ataxia 35 AD
TMEM216 613277 Meckel Syndrome type 2; Joubert syndrome type 2 AR
TMEM237 614423 Joubert syndrome 14 AR
TMEM240 616101 spinocerebellar ataxia 21 AD
TMEM67 609884 COACH syndrome; Meckel Syndrome, Type 3; Joubert syndrome 6; nephronophthisis 11; Bardet-Biedl syndrome type 14 AR
TPP1 607998 neuronal ceroid lipofuscinosis type 2; autosomal recessive spinocerebellar ataxia type 7 AR
TSEN2 608753 pontocerebellar hypoplasia type 2B AR
TSEN34 608754 pontocerebellar hypoplasia type 2C AR
TSEN54 608755 pontocerebellar hypoplasia type 4; pontocerebellar hypoplasia type 2A; pontocerebellar hypoplasia type 5 AR
TTBK2 611695 spinocerebellar ataxia 11 AD
TTC19 613814 nuclear mitochondrial complex III deficiency type 2 AR
TTPA 600415 ataxia with vitamin E deficiency AR
TUBB4A 602662 dystonia 4; hypomyelinating leukodystrophy-6 AD
TWNK 606075 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Progressive external ophthalmoplegia, autosomal dominant, 3 AD, AR
UBA5 610552 early infantile epileptic encephalopathy, 44 AR
VAMP1 185880 Spastic ataxia 1, autosomal dominant; Myasthenic syndrome, congenital, 25 AD, AR
VLDLR 192977 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome AR
VRK1 602168 pontocerebellar hypoplasia type 1A 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
WWOX 605131 Esophageal cancer, somatic; autosomal recessive spinocerebellar ataxia 12; early infantile epileptic encephalopathy 28 AR
ZFYVE26 612012 spastic paraplegia type 15 AR

Ataxia comprehensive panel

No. of genes:196
TAT:25 days
Coverage:≥99.5% ≥20x
Details:Next-generation sequencing with CNV and repeat expansion analysis included

Gene OMIM (Gene) Associated diseases (OMIM) Inheritance
ABCB7 300135 Anemia, Sideroblastic, and Spinocerebellar Ataxia XLR
ABHD12 613599 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract AR
ABHD5 604780 Chanarin-Dorfman syndrome AR
ACADVL 609575 very long chain acyl-CoA dehydrogenase deficiency AR
ACO2 100850 Infantile cerebellar-retinal degeneration AR
AFG3L2 604581 spinocerebellar ataxia 28; spastic ataxia 5 AD, AR
AHI1 608894 Joubert syndrome 3 AR
ALDH5A1 610045 Succinic semialdehyde dehydrogenase deficiency AR
AMACR 604489 Alpha-methylacyl-CoA racemase deficiency AR
ANO10 613726 autosomal recessive spinocerebellar ataxia 10 AR
AP1S2 300629 Pettigrew syndrome XLR
APTX 606350 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia AR
ARL13B 608922 Joubert syndrome 8 AR
ARL6 608845 Bardet-Biedl syndrome type 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 AR, DiR
ARSA 607574 metachromatic leukodystrophy AR
ATCAY 608179 Ataxia, cerebellar, Cayman type AR
ATM 607585 familial breast-ovarian cancer type 2; ataxia-telangiectasia AD, AR
ATN1 607462 Dentatorubro-pallidoluysian atrophy; congenital hypotonia, epilepsy, developmental delay, and digital anomalies AD
ATP13A2 610513 Kufor-Rakeb syndrome; spastic paraplegia type 78 AR
ATP1A3 182350 Dystonia 12; Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; Alternating hemiplegia of childhood 2 AD
ATP2B3 300014 spinocerebellar ataxia, X-linked 1 XLR
ATP8A2 605870 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 AR
ATXN1 601556 spinocerebellar ataxia 1 AD
ATXN10 611150 spinocerebellar ataxia 10 AD
ATXN2 601517 Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 2 AD
ATXN3 607047 spinocerebellar ataxia 3 AD
ATXN7 607640 spinocerebellar ataxia 7 AD
ATXN8OS 603680 Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 8 AD
B9D1 614144 Meckel Syndrome, Type 9 AR
BBS1 209901 Bardet-Biedl syndrome type 1 AR, DiR
BBS12 610683 Bardet-Biedl syndrome type 12 AR
BEAN1 612051 spinocerebellar ataxia 31 AD
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
CA8 114815 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 AR
CACNA1A 601011 episodic ataxia type 2; familial hemiplegic migraine 1; spinocerebellar ataxia 6; early infantile epileptic encephalopathy, 42 AD
CACNB4 601949 Epilepsy, Idiopathic Generalized, Susceptibility To, 9; Episodic ataxia, type 5 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
CC2D2A 612013 COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 AR
CCDC88C 611204 Hydrocephalus, nonsyndromic, autosomal recessive 1; spinocerebellar ataxia type 40 AD, 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
CEP41 610523 Joubert syndrome 15 AR
CHMP1A 164010 pontocerebellar hypoplasia 8 AR
CLCN2 600570 Epilepsy, Idiopathic Generalized, Susceptibility To, 11; Leukoencephalopathy with ataxia AD, AR
CLN5 608102 neuronal ceroid lipofuscinosis type 5 AR
CLN6 606725 adulte onset neuronal ceroid lipofuscinosis, Kufs type; neuronal ceroid lipofuscinosis type 6 AR
CLPP 601119 Perrault syndrome 3 AR
COASY 609855 Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia type 12 AR
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
COX20 614698 Mitochondrial complex IV deficiency AR, M
CP 117700 aceruloplasminemia AR
CPLANE1 614571 oral-facial-digital syndrome 6; Joubert syndrome 17 AR
CSPP1 611654 Joubert syndrome 21 AR
CWF19L1 616120 autosomal recessive spinocerebellar ataxia 17 AR
CYP27A1 606530 cerebrotendinous xanthomatosis AR
DARS2 610956 leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation AR
DLAT 608770 Pyruvate dehydrogenase E2 deficiency AR
DNAJC19 608977 3-methylglutaconic aciduria, type 5 AR
DNAJC5 611203 neuronal ceroid lipofuscinosis type 4, Parry type AD
DNMT1 126375 cerebellar ataxia, deafness and narcolepsy; Neuropathy, hereditary sensory, type IE AD
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
ELOVL4 605512 Spinocerebellar ataxia 34; Stargardt disease 3; Ichthyosis, spastic quadriplegia, and mental retardation AD, AR
ELOVL5 611805 spinocerebellar ataxia 38 AD
EXOSC3 606489 pontocerebellar hypoplasia type 1B AR
FA2H 611026 spastic paraplegia 35 AR
FBXL4 605654 mitochondrial DNA depletion syndrome 13 AR
FGF14 601515 spinocerebellar ataxia 27 AD
FLVCR1 609144 Ataxia, posterior column, with retinitis pigmentosa AR
FTL 134790 Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3 AD, AR
FXN 606829 Friedreich ataxia AR
GALC 606890 Krabbe disease 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
GBA2 609471 spastic paraplegia 46 AR
GFAP 137780 Alexander disease AD
GJB1 304040 Charcot-Marie-Tooth disease type 1 XLD
GJC2 608803 Leukodystrophy, hypomyelinating, 2; spastic paraplegia 44 AD, AR
GOSR2 604027 Epilepsy, progressive myoclonic 6 AR
GRID2 602368 autosomal recessive spinocerebellar ataxia 18 AR
GRM1 604473 autosomal recessive spinocerebellar ataxia 13; Spinocerebellar ataxia type 44 AD, AR
GSS 601002 Glutathione synthetase deficiency AR
HEPACAM 611642 megalencephalic leukoencephalopathy with subcortical cysts type 2A; megalencephalic leukoencephalopathy with subcortical cysts type 2B, remitting, with or without mental retardation AD, AR
HEXB 606873 Sandhoff disease AR
HIBCH 610690 3-hydroxyisobutryl-CoA hydrolase deficiency AR
INPP5E 613037 Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis AR
ITM2B 603904 Cerebral amyloid angiopathy, itm2b-related, 2; Cerebral amyloid angiopathy, itm2b-related, 1 AD
ITPR1 147265 spinocerebellar ataxia 29; Gillespie syndrome; spinocerebellar ataxia 15 AD, AR
KCNA1 176260 Episodic ataxia/myokymia syndrome AD
KCNC3 176264 spinocerebellar ataxia 13 AD
KCND3 605411 spinocerebellar ataxia 19 AD
KCNJ10 602208 autosomal recessive deafness type 4 with enlarged vestibular aqueduct; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance AR
KIF1A 601255 spastic paraplegia 30; Neuropathy, hereditary sensory, type IIC; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 AD, AR
KIF1C 603060 Spastic ataxia 2, autosomal recessive AR
KIF5A 602821 spastic paraplegia 10; Neonatal intractable myoclonus AD
KIF7 611254 Acrocallosal syndrome; Joubert syndrome 12; Hydrolethalus syndrome 2 AR
LAMA1 150320 Poretti-Boltshauser syndrome AR
LMNB1 150340 Leukodystrophy, adult-onset, autosomal dominant AD
LRPPRC 607544 Leigh syndrome, French-Canadian type AR
MARS2 609728 AR
MKS1 609883 Meckel syndrome type 1; Bardet-Biedl syndrome type 13; Joubert syndrome type 28 AR
MLC1 605908 megalencephalic leukoencephalopathy with subcortical cysts type 1 AR
MRE11 600814 Ataxia-telangiectasia-like disorder type 1 AR
MTFMT 611766 Combined oxidative phosphorylation deficiency 15 AR
MTPAP 613669 AR
MTTP 157147 Abetalipoproteinemia; protection against metabolic syndrome AD, AR
NDUFAF6 612392 AR
NDUFS1 157655 AR
NDUFS2 602985 AR
NDUFS4 602694 mitochondrial complex I deficiency AR
NDUFS7 601825 Mitochondrial complex I deficiency, nuclear type 3 AR
NDUFV1 161015 AR
NOP56 614154 spinocerebellar ataxia 36 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
NUBPL 613621 AR
OFD1 300170 Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1 XLD, XLR
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
OPHN1 300127 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance XLR
PANK2 606157 neurodegeneration with brain iron accumulation type 1; HARP syndrome AR
PAX6 607108 Aniridia 1; foveal hypoplasia type 1 AD
PDHX 608769 Lacticacidemia due to PDX1 deficiency AR
PDSS1 607429 Coenzyme Q10 deficiency, primary, 2 AR
PDSS2 610564 Coenzyme Q10 deficiency, primary, 3 AR
PDYN 131340 spinocerebellar ataxia 23 AD
PEX10 602859 peroxisome biogenesis disorder 6A (Zellweger); peroxisome biogenesis disorder 6B AR
PEX2 170993 peroxisome biogenesis disorder type 5A (Zellweger); peroxisome biogenesis disorder type 5B AR
PEX7 601757 Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger) AR
PHYH 602026 Refsum disease AR
PLA2G6 603604 infantile neuroaxonal dystrophy; neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 AR
PLP1 300401 Pelizaeus-Merzbacher disease; spastic paraplegia 2 XLR
PNKD 609023 dystonia 8 AD
PNKP 605610 type 2B2 Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 10 AR
PNPLA6 603197 Boucher-Neuhauser syndrome; spastic paraplegia 39 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
PPP2R2B 604325 spinocerebellar ataxia 12 AD
PRICKLE1 608500 Epilepsy, progressive myoclonic 1B AR
PRKCG 176980 spinocerebellar ataxia 14 AD
PRRT2 614386 Episodic kinesigenic dyskinesia 1; Convulsions, familial infantile, with paroxysmal choreoathetosis; Seizures, benign familial infantile, 2 AD
RARS2 611524 pontocerebellar hypoplasia type 6 AR
RPGRIP1L 610937 COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 AR
RRM2B 604712 mitochondrial DNA depletion syndrome 8A; progressive external ophthalmoplegia with mitochondrial DNA deletions 5 AD, AR
RUBCN 613516 autosomal recessive spinocerebellar ataxia 15 AR
SACS 604490 spastic ataxia of Charlevoix-Saguenay AR
SCN2A 182390 benign familial neonatal-infantile seizures type 3; early infantile epileptic encephalopathy 11 AD
SETX 608465 amyotrophic lateral sclerosis 4; autosomal recessive spinocerebellar ataxia 1 AD, AR
SIL1 608005 Marinesco-Sjogren syndrome AR
SLC16A2 300095 Allan-Herndon-Dudley syndrome XL
SLC17A5 604322 infantile sialic acid storage disorder; Salla disease AR
SLC1A3 600111 episodic ataxia type 6 AD
SLC20A2 158378 Basal ganglia calcification, idiopathic, 1 AD
SLC25A46 610826 Neuropathy, hereditary motor and sensory, type VIB AR
SLC2A1 138140 Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility to, 12 AD, AR
SLC52A3 613350 Fazio-Londe disease; Brown-Vialetto-Van Laere syndrome 1 AR
SLC9A6 300231 Christianson type of X-linked syndromic mental retardation XLD
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
SPR 182125 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency ?AD, AR
SPTBN2 604985 spinocerebellar ataxia 5; autosomal recessive spinocerebellar ataxia 14 AD, AR
STUB1 607207 autosomal recessive spinocerebellar ataxia 16; ?Spinocerebellar ataxia 48 AD, AR
SYNE1 608441 autosomal recessive spinocerebellar ataxia 8; Emery-Dreifuss muscular dystrophy 4 AD, AR
TBP 600075 Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 17 AD
TCTN2 613846 Meckel syndrome 8; Joubert syndrome type 24 AR
TGM6 613900 spinocerebellar ataxia 35 AD
TMEM216 613277 Meckel Syndrome type 2; Joubert syndrome type 2 AR
TMEM237 614423 Joubert syndrome 14 AR
TMEM240 616101 spinocerebellar ataxia 21 AD
TMEM67 609884 COACH syndrome; Meckel Syndrome, Type 3; Joubert syndrome 6; nephronophthisis 11; Bardet-Biedl syndrome type 14 AR
TPP1 607998 neuronal ceroid lipofuscinosis type 2; autosomal recessive spinocerebellar ataxia type 7 AR
TSEN2 608753 pontocerebellar hypoplasia type 2B AR
TSEN34 608754 pontocerebellar hypoplasia type 2C AR
TSEN54 608755 pontocerebellar hypoplasia type 4; pontocerebellar hypoplasia type 2A; pontocerebellar hypoplasia type 5 AR
TTBK2 611695 spinocerebellar ataxia 11 AD
TTC19 613814 nuclear mitochondrial complex III deficiency type 2 AR
TTPA 600415 ataxia with vitamin E deficiency AR
TUBB4A 602662 dystonia 4; hypomyelinating leukodystrophy-6 AD
TWNK 606075 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Progressive external ophthalmoplegia, autosomal dominant, 3 AD, AR
UBA5 610552 early infantile epileptic encephalopathy, 44 AR
VAMP1 185880 Spastic ataxia 1, autosomal dominant; Myasthenic syndrome, congenital, 25 AD, AR
VLDLR 192977 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome AR
VRK1 602168 pontocerebellar hypoplasia type 1A 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
WWOX 605131 Esophageal cancer, somatic; autosomal recessive spinocerebellar ataxia 12; early infantile epileptic encephalopathy 28 AR
ZFYVE26 612012 spastic paraplegia type 15 AR

Ataxia repeat expansion panel

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

Gene OMIM (Gene) Associated diseases (OMIM) Inheritance
ATN1 607462 Dentatorubro-pallidoluysian atrophy; congenital hypotonia, epilepsy, developmental delay, and digital anomalies AD
ATXN1 601556 spinocerebellar ataxia 1 AD
ATXN10 611150 spinocerebellar ataxia 10 AD
ATXN2 601517 Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 2 AD
ATXN3 607047 spinocerebellar ataxia 3 AD
ATXN7 607640 spinocerebellar ataxia 7 AD
ATXN8OS 603680 Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 8 AD
BEAN1 612051 spinocerebellar ataxia 31 AD
CACNA1A 601011 episodic ataxia type 2; familial hemiplegic migraine 1; spinocerebellar ataxia 6; early infantile epileptic encephalopathy, 42 AD
FXN 606829 Friedreich ataxia AR
NOP56 614154 spinocerebellar ataxia 36 AD
PPP2R2B 604325 spinocerebellar ataxia 12 AD
TBP 600075 Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 17 AD

COMMON SYNDROMES AND DISORDERS COVERED

Cerebellar ataxia
Episodic ataxia
Pontocerebellar hypoplasia
Spinocerebellar ataxia

Available Downloads for Ataxia panels

Amyotrophic lateral sclerosis (ALS) panel

Our amyotrophic lateral sclerosis (ALS) panel is designed to detect ALS, which is a progressive neurodegenerative disorder characterized by the degeneration of the upper and lower motor neurons. Most cases appear to be sporadic, but 5-10% of cases have a family history of the disease (FALS).

No. of genes:36
TAT:25 days
Coverage:≥99.5% ≥20x
Details:CNV analysis included
Repeat Expansion: C9ORF72, PRNP

Gene OMIM (Gene) Associated diseases (OMIM) Inheritance
ALS2 606352 amyotrophic lateral sclerosis 2; Spastic paralysis, infantile onset ascending AR
ANG 105850 amyotrophic lateral sclerosis 9
C9orf72 614260 frontotemporal dementia and/or amyotrophic lateral sclerosis AD
CHCHD10 615903 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 AD
CHMP2B 609512 Dementia, familial, nonspecific; amyotrophic lateral sclerosis 17 AD
CSF1R 164770 hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia AD, AR
DCTN1 601143 amyotrophic lateral sclerosis 1; Perry syndrome; Neuronopathy, Distal Hereditary Motor, Type Viib AD, AR
ERBB4 600543 Amyotrophic lateral sclerosis 19 AD
FIG4 609390 Yunis-Varon syndrome; type 4J Charcot-Marie-Tooth disease; amyotrophic lateral sclerosis 11; Polymicrogyria, bilateral temporooccipital AD, AR
FUS 137070 amyotrophic lateral sclerosis 6; Tremor, hereditary essential, 4 AD
GRN 138945 frontotemporal lobar degeneration with ubiquitin-positive inclusions; neuronal ceroid lipofuscinosis type 11 AD, AR
HNRNPA1 164017 Amyotrophic lateral sclerosis 20 AD
ITM2B 603904 Cerebral amyloid angiopathy, itm2b-related, 2; Cerebral amyloid angiopathy, itm2b-related, 1 AD
KIF5A 602821 spastic paraplegia 10; Neonatal intractable myoclonus AD
MAPT 157140 Susceptibility to late-onset Parkinson disease; Pick disease; Dementia, frontotemporal AD, AR
MATR3 164015 Myopathy, Distal, 2 AD
NEFH 162230 amyotrophic lateral sclerosis 1; Charcot-Marie-Tooth disease, axonal, type 2CC AD, AR
OPTN 602432 Adult-onset primary open angle glaucoma; Glaucoma, normal tension, susceptibility to; amyotrophic lateral sclerosis 12 AD
PFN1 176610 amyotrophic lateral sclerosis 18
PRNP 176640 Creutzfeldt-Jakob disease; Gerstmann-Straussler disease; Kuru, susceptibility to; Insomnia, fatal familial; Huntington disease-like 1; Prion disease with protracted course AD
PRPH 170710 amyotrophic lateral sclerosis 1 AD, AR
PSEN1 104311 Pick disease; Dementia, frontotemporal; early-onset familial Alzheimer disease-3; dilated cardiomyopathy-1U; Acne inversa, familial, 3 AD
PSEN2 600759 Alzheimer disease, type 4; dilated cardiomyopathy-1V AD
SETX 608465 amyotrophic lateral sclerosis 4; autosomal recessive spinocerebellar ataxia 1 AD, AR
SIGMAR1 601978 distal spinal muscular atrophy type 2; amyotrophic lateral sclerosis 16 AR
SLC52A3 613350 Fazio-Londe disease; Brown-Vialetto-Van Laere syndrome 1 AR
SOD1 147450 amyotrophic lateral sclerosis 1 AD, AR
SPG11 610844 Amyotrophic lateral sclerosis 5, juvenile; spastic paraplegia type 11; Charcot-Marie-Tooth disease, axonal, type 2X AR
SQSTM1 601530 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset AD, AR
TARDBP 605078 amyotrophic lateral sclerosis 10 AD
TBK1 604834 Frontotemporal dementia and/or amyotrophic lateral sclerosis type 4; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 AD
TREM2 605086 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy type 2 AD
TUBA4A 191110 amyotrophic lateral sclerosis 22 AD
UBQLN2 300264 amyotrophic lateral sclerosis 15 XLD
VAPB 605704 Finkel type late-onset spinal muscular atrophy; amyotrophic lateral sclerosis 8 AD
VCP 601023 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; amyotrophic lateral sclerosis 14; Charcot-Marie-Tooth disease type 2Y AD

COMMON SYNDROMES AND DISORDERS COVERED

Amyotrophic lateral sclerosis

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®

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

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CentoMito® Genome

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

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

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

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CentoNeuroTM

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

No. of genes:1493
TAT:25 days
Coverage:≥99.5% ≥20x
Details:CNV analysis included

Gene OMIM (Gene) Associated diseases (OMIM) Inheritance
A2M 103950 Alzheimer Disease AD
AAAS 605378 Achalasia-addisonianism-alacrimia syndrome AR
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
ABCA1 600046 Tangier disease; HDL deficiency, type 2 AR
ABCB7 300135 Anemia, Sideroblastic, and Spinocerebellar Ataxia XLR
ABCC6 603234 Pseudoxanthoma elasticum, forme fruste; Pseudoxanthoma elasticum; generalized arterial calcification of infancy type 2 AD, 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
ABHD12 613599 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract AR
ABHD5 604780 Chanarin-Dorfman syndrome AR
ACACA 200350 Acetyl-CoA carboxylase deficiency 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
ACE 106180 Renal tubular dysgenesis; Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to AR
ACKR1 613665 resistance to malaria AD, 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
ACTA1 102610 Myopathy, nemaline, 3; Myopathy, congenital, with fiber-type disproportion AD, AR
ACTA2 102620 Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5 AD
ACTB 102630 Baraitser-Winter syndrome 1; Dystonia, juvenile-onset AD
ACTG1 102560 Deafness, Autosomal Dominant 20; Baraitser-Winter syndrome 2 AD
ACTN4 604638 Glomerulosclerosis, focal segmental, 1 AD
ACVRL1 601284 Telangiectasia, hereditary hemorrhagic, type 2 AD
ACY1 104620 Aminoacylase 1 deficiency AR
ADA 608958 Adenosine deaminase deficiency AR
ADAM10 602192 Reticulate acropigmentation of Kitamura AD
ADAMTSL2 612277 Geleophysic dysplasia 1 AR
ADAR 146920 Dyschromatosis symmetrica hereditaria; Aicardi-Goutieres syndrome type 6 AD, AR
ADCY5 600293 Dyskinesia, familial, with facial myokymia AD
ADGRG1 604110 bilateral frontoparietal polymicrogyria; bilateral perisylvian polymicrogyria AR
ADGRV1 602851 Febrile seizures, familial, 4; Usher syndrome type 2C AD, AR, DiD
ADK 102750 Hypermethioninemia due to adenosine kinase deficiency AR
ADNP 611386 Helsmoortel-van der Aa syndrome AD
ADSL 608222 Adenylosuccinase deficiency AR
AFF2 300806 Mental Retardation, X-Linked, Associated With Fragile Site Fraxe XLR
AFG3L2 604581 spinocerebellar ataxia 28; spastic ataxia 5 AD, AR
AGA 613228 Aspartylglucosaminuria AR
AGK 610345 Sengers syndrome; autosomal recessive cataract type 38 AR
AGL 610860 glycogen storage disease type III 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
AHI1 608894 Joubert syndrome 3 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
AKT1 164730 familial breast-ovarian cancer type 2; colorectal cancer; Ovarian Cancer; Proteus Syndrome; Cowden syndrome 6
AKT3 611223 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 AD
ALAD 125270 Acute hepatic porphyria AR
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
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
ALOX5AP 603700 susceptibility to ischemic stroke
ALS2 606352 amyotrophic lateral sclerosis 2; Spastic paralysis, infantile onset ascending AR
ALX1 601527 AR
ALX3 606014 Frontonasal dysplasia 1 AR
ALX4 605420 Parietal foramina 2; Frontonasal dysplasia 2 AD, AR
AMACR 604489 Alpha-methylacyl-CoA racemase deficiency AR
AMN 605799 AR
AMPD1 102770 Myopathy due to myoadenylate deaminase deficiency AR
AMPD2 102771 pontocerebellar hypoplasia 9 AR
AMT 238310 glycine encephalopathy AR
ANG 105850 amyotrophic lateral sclerosis 9
ANK2 106410 long QT syndrome-4 AD
ANK3 600465 autosomal recessive mental retardation type 37 AR
ANKRD11 611192 KBG syndrome AD
ANO10 613726 autosomal recessive spinocerebellar ataxia 10 AR
ANO3 610110 Dystonia 24 AD
ANO5 608662 gnathodiaphyseal dysplasia; limb-girdle muscular dystrophy type 2L AD, AR
ANOS1 300836 Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) XLR
ANTXR2 608041 Hyaline fibromatosis syndrome AR
AP1S1 603531 MEDNIK syndrome AR
AP1S2 300629 Pettigrew syndrome XLR
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
AP5Z1 613653 spastic paraplegia 48 AR
APOA1 107680 Amyloidosis, familial visceral AD
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
AR 313700 Prostate Cancer; Androgen insensitivity; X-linked hypospadias type 1; partial androgen insensitivity with or without breast cancer; Spinal and bulbar muscular atrophy of Kennedy AD, XLR
ARFGEF2 605371 Periventricular heterotopia with microcephaly AR
ARG1 608313 Argininemia AR
ARHGAP31 610911 Adams-Oliver syndrome 1 AD
ARHGEF10 608136 slowed nerve conduction velocity AD
ARHGEF6 300267
ARHGEF9 300429 Epileptic encephalopathy, early infantile, 8 XLR
ARID1A 603024 Coffin-Siris syndrome type 2 AD
ARID1B 614556 Coffin-Siris syndrome 1 AD
ARL13B 608922 Joubert syndrome 8 AR
ARL6 608845 Bardet-Biedl syndrome type 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 AR, DiR
ARL6IP1 607669 spastic paraplegia 61 AR
ARSA 607574 metachromatic leukodystrophy AR
ARSB 611542 mucopolysaccharidosis type VI AR
ARSL 300180 Chondrodysplasia punctata, X-linked recessive XLR
ARV1 611647 early infantile epileptic encephalopathy type 38 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
ASCL1 100790 congenital central hypoventilation syndrome AD
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
ASXL1 612990 Bohring-Opitz syndrome; Myelodysplastic syndrome, somatic AD
ASXL3 615115 Bainbridge-Ropers syndrome AD
ATCAY 608179 Ataxia, cerebellar, Cayman type AR
ATIC 601731 AR
ATL1 606439 spastic paraplegia 3A AD
ATM 607585 familial breast-ovarian cancer type 2; ataxia-telangiectasia AD, AR
ATN1 607462 Dentatorubro-pallidoluysian atrophy; congenital hypotonia, epilepsy, developmental delay, and digital anomalies AD
ATP13A2 610513 Kufor-Rakeb syndrome; spastic paraplegia type 78 AR
ATP1A2 182340 familial hemiplegic migraine type 2 AD
ATP1A3 182350 Dystonia 12; Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; Alternating hemiplegia of childhood 2 AD
ATP2A1 108730 Brody myopathy AR
ATP2A2 108740 Darier disease AD
ATP2B3 300014 spinocerebellar ataxia, X-linked 1 XLR
ATP5F1E 606153 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
ATP6AP2 300556 syndromic mental retardation, Hedera type XLR
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
ATP8A2 605870 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 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
ATXN1 601556 spinocerebellar ataxia 1 AD
ATXN10 611150 spinocerebellar ataxia 10 AD
ATXN2 601517 Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 2 AD
ATXN3 607047 spinocerebellar ataxia 3 AD
ATXN7 607640 spinocerebellar ataxia 7 AD
ATXN8OS 603680 Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 8 AD
AUH 600529 3-methylglutaconic aciduria, type I AR
AUTS2 607270 mental retardation- 26 AD
B3GALNT2 610194 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11 AR
B3GLCT 610308 Peters-plus syndrome AR
B4GALNT1 601873 spastic paraplegia 26 AR
B4GALT1 137060 congenital disorder of glycosylation type 2d AR
B4GAT1 605517 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A13 AR
B9D1 614144 Meckel Syndrome, Type 9 AR
B9D2 611951 Meckel syndrome 10 AR
BAG3 603883 Myopathy, myofibrillar, 6; dilated cardiomyopathy-1HH AD
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
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
BCOR 300485 Microphthalmia, syndromic 2 XLD
BCS1L 603647 Mitochondrial complex III deficiency, nuclear type 1; Leigh syndrome; Bjornstad syndrome; GRACILE syndrome AR, M
BDNF 113505
BEAN1 612051 spinocerebellar ataxia 31 AD
BEST1 607854 vitelliform macular dystrophy-2; vitreoretinochoroidopathy; Bestrophinopathy, autosomal recessive; Retinitis pigmentosa 50 AD
BICD2 609797 autosomal dominant lower extremity-predominant spinal muscular atrophy type 2 AD
BIN1 601248 centronuclear myopathy AR
BLOC1S3 609762 Hermansky-Pudlak syndrome 8 AR
BLOC1S6 604310 Hermansky-pudlak syndrome 9 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
BRWD3 300553 mental retardation 93 XLR
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
C12orf57 615140 Temtamy syndrome AR
C12orf65 613541 Combined oxidative phosphorylation deficiency 7 AR
C19orf12 614297 neurodegeneration with brain iron accumulation 4; spastic paraplegia 43 AD, AR
C8orf37 614477 Cone-rod dystrophy 16; Bardet-Biedl syndrome type 21 AR
C9orf72 614260 frontotemporal dementia and/or amyotrophic lateral sclerosis AD
CA2 611492 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis AR
CA5A 114761 Hyperammonemia due to carbonic anhydrase VA deficiency AR
CA8 114815 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 AR
CACNA1A 601011 episodic ataxia type 2; familial hemiplegic migraine 1; spinocerebellar ataxia 6; early infantile epileptic encephalopathy, 42 AD
CACNA1B 601012 Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements AR
CACNA1C 114205 Timothy syndrome; Brugada syndrome 3; Long QT syndrome 8 AD
CACNA1D 114206 Sinoatrial node dysfunction and deafness; Primary aldosteronism, seizures, and neurologic abnormalities AD, AR
CACNA1F 300110 Night blindness, congenital stationary (incomplete), 2A, X-linked; Cone-rod dystropy, X-linked, 3; Aland Island eye disease XL, XLR
CACNA1H 607904 childhood absence epilepsy type 6 AD
CACNA1S 114208 hypokalemic periodic paralysis 1; Thyrotoxic periodic paralysis Type 1; Malignant hyperthermia susceptibility 5 AD
CACNB2 600003 Brugada syndrome 4
CACNB4 601949 Epilepsy, Idiopathic Generalized, Susceptibility To, 9; Episodic ataxia, type 5 AD
CAMTA1 611501 Cerebellar ataxia, nonprogressive, with mental retardation AD
CAPN3 114240 limb-girdle muscular dystrophy type 1; limb-girdle muscular dystrophy type 4 AD, AR
CARD11 607210 Immunodeficiency 11B with atopic dermatitis AD, AR
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
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
CBL 165360 Leukemia, juvenile myelomonocytic; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia AD
CBS 613381 homocystinuria with or without response to pyridoxine AR
CC2D1A 610055 mental retardation 3 AR
CC2D2A 612013 COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 AR
CCDC28B 610162 Bardet-Biedl syndrome type 1 AR, DiR
CCDC40 613799 Ciliary dyskinesia, primary, 15
CCDC78 614666 Myopathy, centronuclear, 4 AD
CCDC88C 611204 Hydrocephalus, nonsyndromic, autosomal recessive 1; spinocerebellar ataxia type 40 AD, AR
CCM2 607929 Cerebral Cavernous Malformations type 2 AD
CCT5 610150 Neuropathy, hereditary sensory, with spastic paraplegia AR
CD320 606475 Methylmalonic aciduria due to transcobalamin receptor defect
CD36 173510 Platelet glycoprotein IV deficiency; resistance to malaria AR
CD59 107271 Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy AR
CD96 606037 C syndrome AD
CDH15 114019 autosomal dominant mental retardation, 3
CDK5RAP2 608201 primary microcephaly 3 AR
CDKL5 300203 early infantile epileptic encephalopathy 2 XLD
CDON 608707 Holoprosencephaly 11 AD
CEL 114840 MODY type 8 AD
CENPF 600236 Stromme syndrome AR
CENPJ 609279 primary microcephaly 6; Seckel syndrome 4 AR
CEP135 611423 primary microcephaly 8 AR
CEP152 613529 Seckel syndrome 5; primary microcephaly 9 AR
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
CEP41 610523 Joubert syndrome 15 AR
CEP63 614724 Seckel syndrome 6 AR
CERS1 606919 Progressive myoclonic epilepsy-8 AR
CFL2 601443 nemaline myopathy type 7 AR
CHAT 118490 Presynaptic congenital myasthenic syndrome type 6 AR
CHCHD10 615903 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 AD
CHD2 602119 childhood-onset epileptic encephalopathy AD
CHD7 608892 CHARGE syndrome; hypogonadotropic hypogonadism-5 with or without anosmia AD
CHD8 610528 Autism, susceptibility to, 18 AD
CHKB 612395 Muscular dystrophy, congenital, megaconial type AR
CHMP1A 164010 pontocerebellar hypoplasia 8 AR
CHMP2B 609512 Dementia, familial, nonspecific; amyotrophic lateral sclerosis 17 AD
CHRM3 118494 Prune belly syndrome AR
CHRNA1 100690 Multiple pterygium syndrome, lethal type; Myasthenic syndrome, slow-channel congenital; Myasthenic syndrome, fast-channel congenital AD, AR
CHRNA2 118502 Epilepsy, Nocturnal Frontal Lobe, 4 AD
CHRNA4 118504 Tobacco Addiction, Susceptibility To; Epilepsy, nocturnal frontal lobe, 1 AD
CHRNB1 100710 Myasthenic syndrome, congenital, 2A, slow-channel; Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency AD, AR
CHRNB2 118507 Epilepsy, nocturnal frontal lobe, 3
CHRND 100720 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
CHRNG 100730 Multiple pterygium syndrome, lethal type; Multiple Pterygium Syndrome, Escobar Variant AR
CHST14 608429 Ehlers-Danlos syndrome musculocontractural type 1 AR
CHSY1 608183 AR
CIB2 605564 deafness type 48; Usher syndrome type 1J AR
CILK1 612325 AD, AR
CISD2 611507 Wolfram syndrome 2 AR
CISH 602441 Mycobacterium Tuberculosis, Susceptibility To; resistance to malaria
CLCN1 118425 myotonia congenita (Thomsen myotonia); myotonia congenita (Becker myotonia) AD, AR
CLCN2 600570 Epilepsy, Idiopathic Generalized, Susceptibility To, 11; Leukoencephalopathy with ataxia AD, AR
CLCN4 302910 MENTAL RETARDATION, X-LINKED 49 XLD
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
CLDN19 610036 Hypomagnesemia 5, renal, with ocular involvement AR
CLIC2 300138 mental retardation 32 XLR
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
CLPP 601119 Perrault syndrome 3 AR
CNBP 116955 Myotonic dystrophy 2 AD
CNGB3 605080 Achromatopsia type 3 AR
CNNM2 607803 Hypomagnesemia 6, renal; hypomagnesemia, seizures, and mental retardation type 1 AD, AR
CNTN1 600016 Myopathy, congenital, Compton-North AR
CNTNAP2 604569 Pitt-Hopkins like syndrome 1; Autism susceptibility 15 AR
COA5 613920 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
COL12A1 120320 Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 AD
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
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
COQ2 609825 Multiple system atrophy, susceptibility to; Coenzyme Q10 deficiency, primary, 1 AD, AR
COQ4 612898 primary coenzyme Q10 deficiency type 7 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
COX6A1 602072 intermediate type D Charcot-Marie-Tooth AR
COX6B1 124089 Mitochondrial complex IV deficiency AR, M
CP 117700 aceruloplasminemia AR
CPA6 609562 Epilepsy, familial temporal lobe, 5; Febrile seizures, familial, 11 AD, AR
CPLANE1 614571 oral-facial-digital syndrome 6; Joubert syndrome 17 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
CR1 120620 resistance to malaria
CRADD 603454 Mental retardation, autosomal recessive 34, with variant lissencephaly AR
CRBN 609262 mental retardation 2 AR
CREBBP 600140 Rubinstein-Taybi syndrome 1 AD
CRIPT 604594 Short stature with microcephaly and distinctive facies AR
CRPPA 614631 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C7 AR
CRYAB 123590 Myopathy, myofibrillar, 2; Cataract 16, multiple types; Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related; dilated cardiomyopathy-1II AD, AR
CSF1R 164770 hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia AD, AR
CSF2RB 138981 Surfactant metabolism dysfunction, pulmonary, 5 AR
CSPP1 611654 Joubert syndrome 21 AR
CSRP3 600824 dilated cardiomyopathy-1M; Cardiomyopathy, familial hypertrophic, 12 AD
CST3 604312 Cerebral amyloid angiopathy, cst3-related; Macular degeneration, age-related, 11 AD
CSTB 601145 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) AR
CTC1 613129 Cerebroretinal microangiopathy with calcifications and cysts AR
CTDP1 604927 Congenital cataracts, facial dysmorphism, and neuropathy AR
CTNNA3 607667 familial arrhythmogenic right ventricular dysplasia type 13 AD
CTNNB1 116806 colorectal cancer; Hepatocellular Carcinoma; Medulloblastoma; Ovarian Cancer; neurodevelopmental disorder with spastic diplegia and visual defects 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
CUL3 603136 Pseudohypoaldosteronism, type IIE AD
CUL4B 300304 MENTAL RETARDATION, X-LINKED 15 XLR
CUL7 609577 3-M syndrome AR
CWF19L1 616120 autosomal recessive spinocerebellar ataxia 17 AR
CYB5R3 613213 methemoglobinemia type I AR
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
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
DCTN1 601143 amyotrophic lateral sclerosis 1; Perry syndrome; Neuronopathy, Distal Hereditary Motor, Type Viib AD, AR
DCX 300121 type 1 lissencephaly XL
DDC 107930 Aromatic L-amino acid decarboxylase deficiency AR
DDHD1 614603 spastic paraplegia 28 AR
DDHD2 615003 spastic paraplegia 54 AR
DDOST 602202 Congenital disorder of glycosylation, type Ir AR
DDX3X 300160 mental retardation 102 XLD, XLR
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
DHDDS 608172 retinitis pigmentosa type 59; Developmental delay and seizures with or without movement abnormalities AD, AR
DHFR 126060 AR
DHH 605423 46,Xy Sex Reversal 7; 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy AR
DHTKD1 614984 2-aminoadipic 2-oxoadipic aciduria; type 2Q Charcot-Marie-Tooth disease AD, AR
DIAPH3 614567 Auditory neuropathy, autosomal dominant, 1 AD
DKC1 300126 X-linked dyskeratosis congenita XLR
DLAT 608770 Pyruvate dehydrogenase E2 deficiency AR
DLD 238331 dihydrolipoamide dehydrogenase deficiency AR
DLG3 300189 mental retardation 90 XLR
DMD 300377 Becker muscular dystrophy; dilated cardiomyopathy type 3B; Duchenne muscular dystrophy XL, XLR
DMPK 605377 myotonic dystrophy type 1 AD
DNA2 601810 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6 AD, AR
DNAH9 603330 AR
DNAJB2 604139 autosomal recessive distal spinal muscular atrophy type 5 AR
DNAJB6 611332 limb-girdle muscular dystrophy type 1E AD
DNAJC19 608977 3-methylglutaconic aciduria, type 5 AR
DNAJC5 611203 neuronal ceroid lipofuscinosis type 4, Parry type AD
DNAJC6 608375 Parkinson disease 19, juvenile-onset AR
DNM1 602377 early infantile epileptic encephalopathy, 31 AD
DNM1L 603850 Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission AD, AR
DNM2 602378 Myopathy, centronuclear 1; CHARCOT-MARIE-TOOTH, DOMINANT INTERMEDIATE TYPE B; Lethal congenital contracture syndrome 5 AD, AR
DNMT1 126375 cerebellar ataxia, deafness and narcolepsy; Neuropathy, hereditary sensory, type IE AD
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
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
DRD3 126451 schizophrenia AD
DSC3 600271 hypotrichosis and recurrent skin vesicles AR
DST 113810 Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 AR
DTNBP1 607145 Hermansky-Pudlak syndrome 7 AR
DUSP6 602748 Hypogonadotropic hypogonadism 19 with or without anosmia AD
DYM 607461 Dyggve-Melchior-Clausen disease AR
DYNC1H1 600112 lower extremity-predominant spinal muscular atrophy type 1; type 2O Charcot-Marie-Tooth disease; mental retardation-13 AD
DYNC2H1 603297 short-rib thoracic dysplasia-3 with or without polydactyly AR, DiR
DYRK1A 600855 MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 AD
DYSF 603009 limb-girdle muscular dystrophy type 2B; Miyoshi muscular dystrophy type 1; distal myopathy with anterior tibial onset AR
EARS2 612799 Combined oxidative phosphorylation deficiency 12 AR
EBP 300205 MEND syndrome; Chondrodysplasia punctata, X-linked dominant XLD, XLR
ECEL1 605896 distal arthrogryposis type 5D AR
ECHS1 602292 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency AR
EDN3 131242 congenital central hypoventilation syndrome; Waardenburg syndrome type 4B; Hirschsprung disease 4 AD, AR
EDNRB 131244 Waardenburg syndrome type 4A; Hirschsprung disease, susceptibility to, 2; ABCD syndrome AD, AR
EEF1A2 602959 MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; early infantile epileptic encephalopathy type 33 AD
EFHC1 608815 Epilepsy, myoclonic juvenile AD
EFTUD2 603892 Mandibulofacial dysostosis, Guion-Almeida type AD
EGF 131530 Hypomagnesemia 4, renal
EGR2 129010 Dejerine-Sottas syndrom; congenital hypomyelinating neuropathy; type 1D Charcot-Marie-Tooth disease AD, AR
EHMT1 607001 Kleefstra syndrome AD
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
EIF4E 133440
EIF4G1 600495 PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO AD
ELOVL4 605512 Spinocerebellar ataxia 34; Stargardt disease 3; Ichthyosis, spastic quadriplegia, and mental retardation AD, AR
ELOVL5 611805 spinocerebellar ataxia 38 AD
ELP1 603722 hereditary sensory and autonomic neuropathy type III AR
EMD 300384 Emery-Dreifuss muscular dystrophy type 1 XLR
EMX2 600035 Schizencephaly
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
ENTPD1 601752 spastic paraplegia 64 AR
EP300 602700 colorectal cancer; Rubinstein-Taybi syndrome 2 AD
EPB41L1 602879 mental retardation-11 AD
EPM2A 607566 Epilepsy, progressive myoclonic 2A (Lafora); Epilepsy, progressive myoclonic 2B (Lafora) AR
ERBB4 600543 Amyotrophic lateral sclerosis 19 AD
ERCC1 126380 Cerebrooculofacioskeletal syndrome 4 AR
ERCC2 126340 xeroderma pigmentosum complementation group D; photosensitive trichothiodystrophy type 1; cerebrooculofacioskeletal syndrome type 2 AR
ERCC5 133530 xeroderma pigmentosum complementation group G; cerebrooculofacioskeletal syndrome type 3 AR
ERCC6 609413 Cockayne syndrome, type B; Lung Cancer; Cerebrooculofacioskeletal syndrome 1 AD, AR
ERLIN1 611604 spastic paraplegia 62 AR
ERLIN2 611605 spastic paraplegia 18 AR
ESCO2 609353 Roberts syndrome AR
ESRRB 602167 deafness type 35 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
EXOSC3 606489 pontocerebellar hypoplasia type 1B AR
EXOSC8 606019 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
FANCB 300515 Fanconi anemia of complementation group B XLR
FARS2 611592 Combined oxidative phosphorylation deficiency 14; spastic paraplegia type 77 AR
FASTKD2 612322 AR
FBLN5 604580 Cutis laxa, autosomal recessive, type IA; hereditary neuropathy with or without age-related macular degeneration AD, AR
FBN1 134797 Marfan syndrome; stiff skin syndrome; Weill-Marchesani syndrome 2; geleophysic dysplasia 2; Marfan lipodystrophy syndrome AD
FBN2 612570 congenital contractural arachnodactyly; early-onset macular degeneration AD
FBXL4 605654 mitochondrial DNA depletion syndrome 13 AR
FBXO38 608533 distal hereditary motor neuronopathy type IID AD
FBXO7 605648 Parkinson disease 15, autosomal recessive AR
FCGR2B 604590 systemic lupus erythematosus; resistance to malaria AD
FEZF1 613301 AR
FGA 134820 Amyloidosis, familial visceral; Afibrinogenemia, congenital; Dysfibrinogenemia, congenital AD, AR
FGD1 300546 Aarskog-Scott syndrome XLR
FGD4 611104 type 4H Charcot-Marie-Tooth disease AR
FGF10 602115 Lacrimoauriculodentodigital Syndrome; Aplasia of lacrimal and salivary glands AD
FGF12 601513 AD
FGF14 601515 spinocerebellar ataxia 27 AD
FGF17 603725 Hypogonadotropic hypogonadism 20 with or without anosmia AD
FGF8 600483 hypogonadotropic hypogonadism 6 with or without anosmia AD
FGFR1 136350 Craniofacial-skeletal-dermatologic dysplasia; Jackson-Weiss syndrome; hypogonadotropic hypogonadism-2 with or without anosmia; Osteoglophonic dysplasia; Hartsfield syndrome AD
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
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
FIG4 609390 Yunis-Varon syndrome; type 4J Charcot-Marie-Tooth disease; amyotrophic lateral sclerosis 11; Polymicrogyria, bilateral temporooccipital AD, AR
FKBP10 607063 Bruck syndrome 1; osteogenesis imperfecta type 11 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
FLNA 300017 Congenital short bowel syndrome; Heterotopia, periventricular / X-linked periventricular heterotopia; Terminal osseous dysplasia; FG syndrome 2; Otopalatodigital syndrome, type II; Frontometaphyseal dysplasia; Melnick-Needles syndrome; otopalatodigital syndrome type I; Cardiac valvular dysplasia, X-linked XL, XLD, XLR
FLNC 102565 Myopathy, myofibrillar, 5; distal myopathy type 4; Cardiomyopathy, Familial Hypertrophic, 26 AD
FLRT3 604808 AD
FLVCR1 609144 Ataxia, posterior column, with retinitis pigmentosa AR
FLVCR2 610865 Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome AR
FMR1 309550 fragile X tremor/ataxia syndrome; fragile X mental retardation syndrome; premature ovarian failure type 1 XL, XLD
FOLR1 136430 cerebral folate transport deficiency AR
FOXC1 601090 Iridogoniodysgenesis, type 1; Axenfeld-Rieger syndrome, type 3 AD
FOXG1 164874 Rett syndrome, congenital variant AD
FOXL2 605597 Blepharophimosis, epicanthus inversus, and ptosis AD, AR
FOXP1 605515 Mental retardation with language impairment and with or without autistic features AD
FOXP2 605317 Speech-Language Disorder 1 AD
FOXP3 300292 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked XLR
FOXRED1 613622 AR
FREM1 608944 Manitoba oculotrichoanal syndrome; Bifid nose with or without anorectal and renal anomalies; Trigonocephaly 2 AD, AR
FRMD7 300628 nystagmus 1, congenital, X-linked XL
FRRS1L 604574 Epileptic encephalopathy, early infantile, 37 AR
FSHB 136530 AR
FTL 134790 Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3 AD, AR
FTO 610966 Growth retardation, developmental delay, facial dysmorphism AR
FTSJ1 300499 MENTAL RETARDATION, X-LINKED 9 XLR
FUCA1 612280 fucosidosis AR
FUS 137070 amyotrophic lateral sclerosis 6; Tremor, hereditary essential, 4 AD
FXN 606829 Friedreich ataxia AR
FXYD2 601814 Hypomagnesemia-2, renal AD
G6PD 305900 glucose-6-phosphate dehydrogenase deficiency; resistance to malaria XLD
GAA 606800 Pompe disease AR
GABRA1 137160 Epilepsy, Juvenile Myoclonic, Susceptibility To, 5; early infantile epileptic encephalopathy, 19 AD
GABRB3 137192 Epilepsy, Childhood Absence, Susceptibility To, 5 AD
GABRD 137163 Epilepsy, idiopathic generalized, 10 AD
GABRG2 137164 Epilepsy, Childhood Absence, Susceptibility To, 2; Generalized epilepsy with febrile seizures plus type 3 AD
GAD1 605363 Cerebral palsy, spastic quadriplegic, 1 AR
GALC 606890 Krabbe disease 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
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
GBA2 609471 spastic paraplegia 46 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
GDI1 300104 mental retardation 41 XLD
GDNF 600837 pheochromocytoma; congenital central hypoventilation syndrome; Hirschsprung Disease, Susceptibility To, 3 AD
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
GIGYF2 612003 PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
GJA1 121014 Oculodentodigital dysplasia AD, AR
GJB1 304040 Charcot-Marie-Tooth disease type 1 XLD
GJB3 603324 erythrokeratoderma variabilis progressive type 1; nonsyndromic hearing loss; Deafness, autosomal dominant 2B AD, AR, DiD
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
GLE1 603371 Lethal congenital, contracture syndrome 1 AR
GLI2 165230 holoprosencephaly 9; Culler-Jones syndrome AD
GLI3 165240 Pallister-Hall syndrome; Polydactyly, postaxial, types A1 and B; Preaxial polydactyly type IV; Greig cephalopolysyndactyly syndrome AD
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
GLUL 138290 Glutamine deficiency, congenital AR
GM2A 613109 GM2-gangliosidosis, AB variant AR
GMPPA 615495 Alacrima, achalasia, and mental retardation syndrome 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
GNAL 139312 dystonia 25 AD
GNAO1 139311 early infantile epileptic encephalopathy 17; neurodevelopmental disorder with involuntary movements AD
GNAS 139320 Pseudohypoparathyroidism Ia; Osseous heteroplasia, progressive; McCune-Albright syndrome, somatic, mosaic; ACTH-independent macronodular adrenal hyperplasia; Pseudohypoparathyroidism type Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism AD
GNB4 610863 intermediate type F Charcot-Marie-Tooth AD
GNE 603824 Sialuria; Nonaka myopathy AD, 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
GNRH1 152760 hypogonadotropic hypogonadism 12 with or without anosmia AR
GNRHR 138850 hypogonadotropic hypogonadism 7 with or without anosmia AR
GNS 607664 mucopolysaccharidosis type IIID AR
GOSR2 604027 Epilepsy, progressive myoclonic 6 AR
GP1BA 606672 Bernard-Soulier syndrome, type A2 (dominant); platelet type von Willebrand disease; Bernard-Soulier syndrome, type C AD, AR
GPC3 300037 Wilms tumor, type 1; Simpson-Golabi-Behmel syndrome, type 1 XLR
GPHN 603930 Molybdenum cofactor deficiency, complementation group c AR
GPR143 300808 Albinism, Ocular, Type I; Nystagmus 6, congenital, X-linked XL, XLR
GPT2 138210 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 AR
GPX1 138320 Hemolytic anemia due to glutathione peroxidase deficiency AR
GRIA3 305915 syndromic mental retardation, Wu type XLR
GRID2 602368 autosomal recessive spinocerebellar ataxia 18 AR
GRIK2 138244 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 AR
GRIN1 138249 mental retardation- 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures AD, AR
GRIN2A 138253 Epilepsy, focal, with speech disorder and with or without mental retardation AD
GRIN2B 138252 MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; early infantile epileptic encephalopathy 27 AD
GRIP1 604597 AR
GRM1 604473 autosomal recessive spinocerebellar ataxia 13; Spinocerebellar ataxia type 44 AD, AR
GRN 138945 frontotemporal lobar degeneration with ubiquitin-positive inclusions; neuronal ceroid lipofuscinosis type 11 AD, AR
GSN 137350 Amyloidosis, finnish type AD
GSS 601002 Glutathione synthetase deficiency AR
GTPBP3 608536 Combined oxidative phosphorylation deficiency 23 AR
GUF1 617064 early infantile epileptic encephalopathy, 40 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
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
HBB 141900 Heinz Body Anemias; Delta-beta thalassemia; dominantly inherited inclusion body beta-thalassemia; sickle cell anemia; resistance to malaria; beta-thalassemia AD, AR
HCCS 300056 Microphthalmia, syndromic 7 XLD
HCFC1 300019 mental retardation 3 XLR
HCN1 602780 early infantile epileptic encephalopathy 24 AD
HDAC4 605314
HDAC8 300269 Cornelia de Lange syndrome 5 XLD
HEPACAM 611642 megalencephalic leukoencephalopathy with subcortical cysts type 2A; megalencephalic leukoencephalopathy with subcortical cysts type 2B, remitting, with or without mental retardation AD, AR
HERC2 605837 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 AR
HESX1 601802 Septooptic dysplasia 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
HGSNAT 610453 mucopolysaccharidosis type IIIC; retinitis pigmentosa type 73 AR
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
HMGCL 613898 HMG-CoA lyase deficiency AR
HMGCS2 600234 HMG-CoA synthase-2 deficiency AR
HNRNPA1 164017 Amyotrophic lateral sclerosis 20 AD
HNRNPDL 607137 limb-girdle muscular dystrophy type 1G AD
HNRNPU 602869 Epileptic encephalopathy, early infantile, 54 AD
HOXA1 142955 Bosley-Salih-Alorainy syndrome
HOXD10 142984 AD
HPCA 142622 dystonia 2 AR
HPD 609695 Tyrosinemia, type III AD, AR
HPRT1 308000 Lesch-Nyhan syndrome; Kelley-Seegmiller syndrome XLR
HPS1 604982 Hermansky-Pudlak syndrome type 1 AR
HPS3 606118 Hermansky-Pudlak syndrome type 3 AR
HPS4 606682 Hermansky-Pudlak syndrome type 4 AR
HPS5 607521 Hermansky-Pudlak syndrome type 5 AR
HPS6 607522 Hermansky-Pudlak syndrome type 6 AR
HPSE2 613469 Urofacial syndrome 1 AR
HRAS 190020 Bladder Cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Costello syndrome AD
HS6ST1 604846 hypogonadotropic hypogonadism 15 with or without anosmia AD
HSD17B10 300256 HSD10 mitochondrial disease XLD
HSD17B4 601860 Perrault syndrome type 1; D-bifunctional protein deficiency AR
HSPB1 602195 type 2F Charcot-Marie-Tooth disease; Neuropathy, distal hereditary motor, type IIB AD
HSPB3 604624 Neuronopathy, distal hereditary motor, type iic AD
HSPB8 608014 Neuropathy, distal hereditary motor, type IIA; type 2L Charcot-Marie-Tooth disease AD
HSPD1 118190 spastic paraplegia 13; hypomyelinating leukodystrophy-4 AD, AR
HSPG2 142461 Silverman-Handmaker type of dyssegmental dysplasia; Schwartz-Jampel syndrome 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
HTRA2 606441 Parkinson disease 13; 3-methylglutaconic aciduria, type VIII AR
HUWE1 300697 syndromic mental retardation, Turner type XL
HYAL1 607071 Mucopolysaccharidosis type IX AR
HYDIN 610812 primary ciliary dyskinesia type 5 AR
IARS2 612801 Cataracts, Growth Hormone Deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia AR
IBA57 615316 Multiple mitochondrial dysfunctions syndrome 3 AR
ICAM1 147840 resistance to malaria
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
IFT140 614620 Mainzer-Saldino syndrome; retinitis pigmentosa type 80 AR
IFT172 607386 Short-rib thoracic dysplasia 10 with or without polydactyly AR
IFT27 615870 Bardet-Biedl syndrome 19 AR
IGBP1 300139 mental retardation 28 XLR
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
IKBKG 300248 Incontinentia pigmenti, type II XLD, XLR
IL11RA 600939 Craniosynostosis and dental anomalies AR
IL17RD 606807 Hypogonadotropic hypogonadism type 18 with or without anosmia AD, AR, DiD
IL1RAPL1 300206 mental retardation 21 XLR
IL1RN 147679 Gastric Cancer, Hereditary Diffuse; Microvascular complications of diabetes, susceptibility to, 4; Osteomyelitis, sterile multifocal, with periostitis and pustulosis AD, AR
INF2 610982 Focal Segmental Glomerulosclerosis 5; intermediate type E Charcot-Marie-Tooth AD
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
INVS 243305 nephronophthisis 2 AR
IQSEC2 300522 MENTAL RETARDATION, X-LINKED 1 XLD
IRX5 606195 Hamamy syndrome AR
ISCA2 615317 Multiple mitochondrial dysfunctions syndrome type 4 AR
ISCU 611911 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
ITM2B 603904 Cerebral amyloid angiopathy, itm2b-related, 2; Cerebral amyloid angiopathy, itm2b-related, 1 AD
ITPA 147520 Epileptic encephalopathy, early infantile, 35 AR
ITPR1 147265 spinocerebellar ataxia 29; Gillespie syndrome; spinocerebellar ataxia 15 AD, 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
KANK1 607704 Cerebral palsy, spastic quadriplegic, 2
KARS1 601421 CHARCOT-MARIE-TOOTH, RECESSIVE INTERMEDIATE TYPE B; Deafness, autosomal recessive 89 AR
KAT6A 601408 mental retardation- 32 AD
KAT6B 605880 Ohdo syndrome, SBBYS variant; Genitopatellar syndrome AD
KATNB1 602703 lissencephaly 6 AR
KBTBD13 613727 Nemaline Myopathy 6 AD
KCNA1 176260 Episodic ataxia/myokymia syndrome AD
KCNA2 176262 Epileptic encephalopathy, early infantile, 32 AD
KCNB1 600397 early infantile epileptic encephalopathy 26 AD
KCNC1 176258 Progressive myoclonic epilepsy 7 AD
KCNC3 176264 spinocerebellar ataxia 13 AD
KCND3 605411 spinocerebellar ataxia 19 AD
KCNE3 604433 Brugada syndrome 6
KCNJ1 600359 Bartter syndrome, type 2 AR
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
KCNK18 613655 AD
KCNK9 605874
KCNMA1 600150 Generalized epilepsy and paroxysmal dyskinesia; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16 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
KCTD17 616386 Dystonia 26, myoclonic AD
KCTD7 611725 progressive myoclonic epilepsy type 3 with or without intracellular inclusions AR
KDM5C 314690 syndromic mental retardation - Claes-Jensen type XLR
KDM6A 300128 Kabuki syndrome 2 XLD
KIF11 148760 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation AD
KIF1A 601255 spastic paraplegia 30; Neuropathy, hereditary sensory, type IIC; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 AD, AR
KIF1B 605995 type 2A1 Charcot-Marie-Tooth disease; pheochromocytoma AD
KIF1C 603060 Spastic ataxia 2, autosomal recessive AR
KIF21A 608283 Fibrosis Of Extraocular Muscles, Congenital, 1 AD
KIF5A 602821 spastic paraplegia 10; Neonatal intractable myoclonus AD
KIF5C 604593 Cortical dysplasia, complex, with other brain malformations 2 AD
KIF7 611254 Acrocallosal syndrome; Joubert syndrome 12; Hydrolethalus syndrome 2 AR
KIRREL3 607761
KISS1 603286 hypogonadotropic hypogonadism 13 with or without anosmia AR
KISS1R 604161 Precocious puberty, central, 1; hypogonadotropic hypogonadism 8 with or without anosmia AD, AR
KLHL40 615340 Nemaline myopathy 8, autosomal recessive AR
KLHL41 607701 Nemaline myopathy 9 AR
KMT2A 159555 Wiedemann-Steiner syndrome AD
KMT2C 606833 Kleefstra syndrome type 2 AD
KMT2D 602113 Kabuki syndrome 1 AD
KNL1 609173 primary microcephaly 4 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
KRIT1 604214 Cerebral Cavernous Malformations type 1 AD
KRT5 148040 epidermolysis bullosa simplex, Dowling-Meara type; Epidermolysis bullosa simplex, Weber-Cockayne type; Epidermolysis bullosa simplex, recessive 1 AD, AR
L1CAM 308840 spastic paraplegia type 1; partial agenesis of the corpus callosum; hydrocephalus with stenosis of the aqueduct of Sylvius XLR
L2HGDH 609584 L-2-hydroxyglutaric aciduria AR
LAMA1 150320 Poretti-Boltshauser syndrome AR
LAMA2 156225 congenital muscular dystrophy type 1A; limb-girdle Muscular dystrophy type 23 AR
LAMB1 150240 lissencephaly 5 AR
LAMB2 150325 Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities AR
LAMC3 604349 Cortical malformations, occipital 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
LBR 600024 Pelger-Huet anomaly; Greenberg skeletal dysplasia AD, AR
LDB3 605906 dilated cardiomyopathy-1C; Myopathy, myofibrillar, 4 AD
LDHA 150000 Glycogen storage disease XI AR
LEP 164160 Leptin deficiency AR
LEPR 601007 Morbid obesity due to leptin receptor deficiency AR
LGI1 604619 Epilepsy, familial temporal lobe, 1 AD
LHB 152780 Hypogonadotropic hypogonadism 23 with or without anosmia 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
LIMS2 607908 limb-girdle muscular dystrophy type 2W AR
LINS1 610350 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 AR
LIPA 613497 Wolman disease / cholesteryl ester storage disease AR
LIPT1 610284 Lipoyltransferase 1 deficiency AR
LITAF 603795 type 1C Charcot-Marie-Tooth disease AD
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
LMOD3 616112 Nemaline myopathy 10 AR
LMX1B 602575 Nail-patella syndrome AD
LPIN1 605518 Myoglobinuria, acute recurrent, autosomal recessive AR
LPIN2 605519 Majeed syndrome
LRBA 606453 Immunodeficiency, common variable, 8, with autoimmunity AR
LRP2 600073 Donnai-Barrow syndrome AR
LRPPRC 607544 Leigh syndrome, French-Canadian type AR
LRRK2 609007 Parkinson disease 8 AD
LRSAM1 610933 type 2P Charcot-Marie-Tooth disease AD, AR
LYRM7 615831 Mitochondrial complex III deficiency nuclear type 8 AR
LYST 606897 Chediak-Higashi syndrome AR
LYZ 153450 Amyloidosis, familial visceral AD
LZTFL1 606568 Bardet-Biedl syndrome 17 AR
LZTR1 600574 Noonan syndrome type 2; SCHWANNOMATOSIS 2; Noonan syndrome 10 AD, AR
MAG 159460 Spastic paraplegia 75, autosomal recessive AR
MAGEL2 605283 Schaaf-Yang syndrome AD
MAGI2 606382 nephrotic syndrome type 15 AR
MAGT1 300715 Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia XLR
MAMLD1 300120 Hypospadias 2, X-linked XLR
MAN1B1 604346 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 AR
MAN2B1 609458 alpha-mannosidosis AR
MANBA 609489 Mannosidosis, Beta A, Lysosomal AR
MAOA 309850 Brunner syndrome XLR
MAPT 157140 Susceptibility to late-onset Parkinson disease; Pick disease; Dementia, frontotemporal AD, AR
MARS1 156560 Interstitial lung and liver disease; type 2U Charcot-Marie-Tooth disease AD, AR
MARS2 609728 AR
MASP1 600521 3MC syndrome 1 AR
MATR3 164015 Myopathy, Distal, 2 AD
MBD5 611472 mental retardation-1 AD
MBTPS2 300294 IFAP syndrome with or without BRESHECK syndrome; Keratosis follicularis spinulosa decalvans, X-linked XLR
MCCC1 609010 3-Methylcrotonyl-CoA carboxylase 1 deficiency AR
MCCC2 609014 3-methylcrotonyl-CoA carboxylase 2 deficiency AR
MCEE 608419 Methylmalonyl-coa epimerase deficiency AR
MCM4 602638 Natural killer cell and glucocorticoid deficiency with DNA repair defect AR
MCOLN1 605248 Mucolipidosis type IV 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
MED13L 608771 Mental retardation and distinctive facial features with or without cardiac defects AD
MED17 603810 postnatal progressive microcephaly, seizures, and brain atrophy AR
MED23 605042 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 AR
MED25 610197 Basel-Vanagait-Smirin-Yosef syndrome AR
MEF2C 600662 mental retardation- 20 AD
MEGF10 612453 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset AR
MEIS2 601740 Cleft palate, cardiac defects, and mental retardation AD
MET 164860 Hepatocellular Carcinoma; Renal cell carcinoma, papillary; deafness type 97 AD, 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
MFRP 606227 Nanophthalmos 2; isolated microphthalmia 5 AR
MFSD2A 614397 Microcephaly 15, primary, autosomal recessive 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
MIB1 608677 Left ventricular noncompaction 7 AD
MICU1 605084 Myopathy with extrapyramidal signs AR
MID1 300552 Opitz GBBB syndrome, X-linked XLR
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
MKS1 609883 Meckel syndrome type 1; Bardet-Biedl syndrome type 13; Joubert syndrome type 28 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
MMP3 185250 Coronary heart disease, susceptibility to, 6
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
MPDZ 603785 Hydrocephalus, nonsyndromic, autosomal recessive 2 AR
MPI 154550 congenital disorder of glycosylation type 1b 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
MRE11 600814 Ataxia-telangiectasia-like disorder type 1 AR
MRPL44 611849 combined oxidative phosphorylation deficiency type 16 AR
MRPS22 605810 Combined oxidative phosphorylation deficiency 5 AR
MSMO1 607545 Microcephaly, congenital cataract, and psoriasiform dermatitis AR
MSX1 142983 Tooth Agenesis, Selective, 1; Witkop Syndrome; Orofacial cleft 5 AD
MSX2 123101 Parietal foramina 1; Parietal foramina with cleidocranial dysplasia; Craniosynostosis, type 2 AD
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
MTM1 300415 X-linked myotubular myopathy XLR
MTMR14 611089 Myopathy, centronuclear 1 AD
MTMR2 603557 type 4B1 Charcot-Marie-Tooth disease AR
MTO1 614667 Combined oxidative phosphorylation deficiency 10 AR
MTOR 601231 Smith-Kingsmore syndrome AD
MTPAP 613669 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
MTTP 157147 Abetalipoproteinemia; protection against metabolic syndrome AD, 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
MYBPC1 160794 Arthrogryposis, distal, type 1B; Lethal congenital contracture syndrome 4 AD, AR
MYBPC3 600958 familial hypertrophic cardiomyopathy 4; dilated cardiomyopathy-1MM AD, AR
MYCN 164840 Feingold syndrome AD
MYH14 608568 deafness type 4A; Peripheral neuropathy, myopathy, hoarseness, and hearing loss AD
MYH2 160740 Inclusion body myopathy 3, autosomal dominant AD, AR
MYH3 160720 distal arthrogryposis type 2A; Distal arthrogryposis type 2B3 (Sheldon-Hall) AD, AR
MYH7 160760 Liang distal myopathy; Scapuloperoneal syndrome, myopathic type; familial hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myopathy, myosin storage, autosomal dominant; dilated cardiomyopathy-1S AD, AR, DiD
MYH8 160741 distal arthrogryposis type 7; Carney complex variant AD
MYH9 160775 Fechtner syndrome; Macrothrombocytopenia and progressive sensorineural deafness; May-Hegglin anomaly; Sebastian syndrome; deafness type 17 AD
MYO18B 607295 Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism AR
MYO5A 160777 Griscelli syndrome, type 1 AR
MYO7A 276903 Usher syndrome type 1B; deafness type 2; autosomal dominant deafness type 11 AD, AR
MYOT 604103 Myopathy, spheroid body; Myopathy, myofibrillar, 3; limb-girdle muscular dystrophy type 1A AD
MYPN 608517 dilated cardiomyopathy-1KK; Autosomal recessive Nemaline myopathy type 11 AD, AR
NAA10 300013 Ogden syndrome; Microphthalmia, syndromic 1 XL, XLD, XLR
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
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
NBN 602667 Nijmegen breakage syndrome; Aplastic Anemia; Acute lymphoblastic leukemia AR
NDE1 609449 lissencephaly 4 AR
NDP 300658 Exudative Vitreoretinopathy 2, X-Linked; Norrie disease XLD, XLR
NDRG1 605262 type 4D Charcot-Marie-Tooth disease AR
NDST1 600853 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 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
NDUFB3 603839 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
NEB 161650 nemaline myopathy type 2 AR
NECAP1 611623 early infantile epileptic encephalopathy 21 AR
NECTIN1 600644 Cleft lip/palate ectodermal dysplasia syndrome AR
NEDD4L 606384 Periventricular nodular heterotopia 7 AD
NEFH 162230 amyotrophic lateral sclerosis 1; Charcot-Marie-Tooth disease, axonal, type 2CC AD, AR
NEK8 609799 nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 AR
NEU1 608272 neuraminidase deficiency AR
NEXMIF 300524 mental retardation 98 XLD
NF1 613113 neurofibromatosis type 1; Neurofibromatosis-Noonan syndrome; Leukemia, juvenile myelomonocytic AD
NFIX 164005 Marshall-Smith syndrome; Sotos syndrome 2 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
NHLRC1 608072 Epilepsy, progressive myoclonic 2A (Lafora); Epilepsy, progressive myoclonic 2B (Lafora) AR
NHS 300457 Nance-Horan syndrome XL, XLD
NIPA1 608145 spastic paraplegia type 6 AD
NIPBL 608667 Cornelia de Lange syndrome 1 AD
NKX2-1 600635 Chorea, Benign Hereditary; Thyroid Carcinoma, Papillary; Choreoathetosis, hypothyroidism, and neonatal respiratory distress AD
NLGN3 300336 Autism, Susceptibility To, X-Linked 1; Asperger Syndrome, X-Linked, Susceptibility To, 1 XL
NLGN4X 300427 Autism, Susceptibility To, X-Linked 2; Asperger Syndrome, X-Linked, Susceptibility To, 2 XL
NLRP12 609648 Familial cold autoinflammatory syndrome 2 AD
NLRP3 606416 Familial Cold Autoinflammatory Syndrome 1; Muckle-Wells syndrome; CINCA syndrome AD
NOD2 605956 Blau syndrome; Inflammatory Bowel Disease 1 AD
NOG 602991 proximal symphalangism 1A AD
NOP56 614154 spinocerebellar ataxia 36 AD
NOS2 163730 resistance to malaria
NOS3 163729 Alzheimer Disease; susceptibility to ischemic stroke AD
NOTCH2 600275 Hajdu-Cheney syndrome; Alagille syndrome 2 AD
NOTCH3 600276 CADASIL; Lateral meningocele syndrome 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
NR0B2 604630 OBESITY AD, AR
NR2F1 132890 Bosch-Boonstra-Schaaf optic atrophy syndrome AD
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
NRG1 142445
NRXN1 600565 Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome AR
NSD1 606681 Sotos syndrome 1 AD
NSDHL 300275 CK syndrome; CHILD syndrome XLD, XLR
NSMF 608137 hypogonadotropic hypogonadism 9 with or without anosmia AD
NSUN2 610916 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 AR
NT5C2 600417 spastic paraplegia 45 AR
NTRK1 191315 hereditary sensory and autonomic neuropathy type 4 AR
NTRK2 600456 Obesity, hyperphagia, and developmental delay; early infantile epileptic encephalopathy type 58 AD
NUBPL 613621 AR
NXF5 300319
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
OFD1 300170 Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1 XLD, XLR
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
OPHN1 300127 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance XLR
OPTN 602432 Adult-onset primary open angle glaucoma; Glaucoma, normal tension, susceptibility to; amyotrophic lateral sclerosis 12 AD
ORC1 601902 Meier-gorlin syndrome 1 AR
OTC 300461 ornithine transcarbamylase deficiency XLR
PAFAH1B1 601545 lissencephaly type 1 AD
PAH 612349 phenylketonuria AR
PAK3 300142 mental retardation 30 XLR
PANK2 606157 neurodegeneration with brain iron accumulation type 1; HARP syndrome AR
PARK7 602533 Parkinson disease 7 AR
PAX3 606597 Waardenburg syndrome, type 3; Waardenburg syndrome type 1 AD, AR
PAX6 607108 Aniridia 1; foveal hypoplasia type 1 AD
PC 608786 pyruvate carboxylase deficiency AR
PCBD1 126090 Hyperphenylalaninemia, BH4-deficient, D AR
PCCA 232000 propionic acidemia AR
PCCB 232050 propionic acidemia AR
PCDH15 605514 Usher syndrome type 1D; Usher syndrome type 1F; deafness type 23 AR, DiR
PCDH19 300460 early infantile epileptic encephalopathy type 9 XL
PCNT 605925 microcephalic osteodysplastic primordial dwarfism type 2 AR
PCSK1 162150 Obesity with impaired prohormone processing AR
PDCD10 609118 Cerebral cavernous malformations 3
PDE6D 602676 Joubert syndrome 22 AR
PDE8B 603390 Striatal degeneration, autosomal dominant; Pigmented nodular adrenocortical disease, primary, 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
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
PDYN 131340 spinocerebellar ataxia 23 AD
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
PFN1 176610 amyotrophic lateral sclerosis 18
PGAM2 612931 Glycogen storage disease X AR
PGAP1 611655 mental retardation 42 AR
PGK1 311800 Phosphoglycerate kinase 1 deficiency XLR
PGM1 171900 congenital disorder of glycosylation type 1t AR
PHC1 602978 primary microcephaly 11 AR
PHF6 300414 Borjeson-Forssman-Lehmann syndrome XLR
PHF8 300560 syndromic mental retardation, Siderius type XLR
PHGDH 606879 Neu-Laxova syndrome type 1; Phosphoglycerate dehydrogenase deficiency AR
PHKA1 311870 Muscle glycogenosis XLR
PHOX2B 603851 congenital central hypoventilation syndrome AD
PHYH 602026 Refsum disease AR
PIEZO2 613629 Arthrogryposis, distal, type 5; Marden-Walker syndrome; Arthrogryposis, distal, with impaired proprioception and touch AD, AR
PIGA 311770 Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2 XLR
PIGL 605947 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome AR
PIGN 606097 Multiple congenital anomalies-hypotonia-seizures syndrome type 1 AR
PIGO 614730 Hyperphosphatasia with mental retardation syndrome 2 AR
PIGV 610274 Hyperphosphatasia with mental retardation syndrome type 1 AR
PIK3CA 171834 familial breast-ovarian cancer type 2; colorectal cancer; Hepatocellular Carcinoma; Nevus, Epidermal; Ovarian Cancer; Keratosis, Seborrheic; Lung Cancer; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome; Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi; Gastric Cancer; Cowden syndrome 5
PIK3R2 603157 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome AD
PIK3R5 611317 Ataxia-oculomotor apraxia 3 AR
PINK1 608309 Parkinson disease 6 AR
PITX2 601542 Axenfeld-Rieger syndrome, type 1 AD
PKD2 173910 polycystic kidney disease type 2 AD
PLA2G6 603604 infantile neuroaxonal dystrophy; neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 AR
PLCB1 607120 early infantile epileptic encephalopathy 12 AR
PLCG2 600220 Familial cold autoinflammatory syndrome 3 AD
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
PLEKHG5 611101 autosomal recessive distal spinal muscular atrophy type 4; recessive intermediate Charcot-Marie-Tooth disease type C AR
PLK4 605031 autosomal recessive microcephaly and chorioretinopathy, 2 AR
PLN 172405 dilated cardiomyopathy-1P; Cardiomyopathy, familial hypertrophic, 18 AD
PLOD2 601865 Bruck syndrome 2 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
PNKD 609023 dystonia 8 AD
PNKP 605610 type 2B2 Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 10 AR
PNPLA2 609059 Neutral lipid storage disease with myopathy AR
PNPLA6 603197 Boucher-Neuhauser syndrome; spastic paraplegia 39 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
POLR3A 614258 hypomyelinating leukodystrophy-7 AR
POLR3B 614366 hypomyelinating leukodystrophy-8 AR
POMC 176830 OBESITY; Proopiomelanocortin Deficiency 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
PORCN 300651 Focal dermal hypoplasia XLD
POT1 606478 Melanoma, cutaneous malignant, susceptibility to, 10 AD
POU1F1 173110 Pituitary hormone deficiency, combined, 1 AD, AR
PPARG 601487 noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; OBESITY; Lipodystrophy, familial partial, type 3 AD, AR
PPOX 600923 variegate porphyria AD
PPP2R2B 604325 spinocerebellar ataxia 12 AD
PPT1 600722 neuronal ceroid lipofuscinosis type 1 AR
PQBP1 300463 Renpenning Syndrome 1 XLR
PREPL 609557 congenital myasthenic syndrome type 22 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
PRKCG 176980 spinocerebellar ataxia 14 AD
PRKCH 605437 susceptibility to ischemic stroke
PRKN 602544 Ovarian Cancer; Lung Cancer; Parkinson disease 2 AR
PRKRA 603424 dystonia 16 AR
PRNP 176640 Creutzfeldt-Jakob disease; Gerstmann-Straussler disease; Kuru, susceptibility to; Insomnia, fatal familial; Huntington disease-like 1; Prion disease with protracted course AD
PRODH 606810 Hyperprolinemia, type I; susceptibility to Schizophrenia, 4 AD, AR
PROK2 607002 hypogonadotropic hypogonadism 4 with or without anosmia AD
PROKR2 607123 hypogonadotropic hypogonadism 3 with or without anosmia AD
PROM1 604365 Stargardt disease 4; Macular dystrophy, retinal, 2; Retinitis pigmentosa 41; Cone-rod dystrophy 12 AD, AR
PROP1 601538 Pituitary hormone deficiency, combined, 2 AR
PRPH 170710 amyotrophic lateral sclerosis 1 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
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
PRRX1 167420 Agnathia-otocephaly complex AD, AR
PRSS12 606709 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 AR
PRX 605725 Dejerine-Sottas syndrom; type 4F Charcot-Marie-Tooth disease AD, AR
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
PSEN1 104311 Pick disease; Dementia, frontotemporal; early-onset familial Alzheimer disease-3; dilated cardiomyopathy-1U; Acne inversa, familial, 3 AD
PSEN2 600759 Alzheimer disease, type 4; dilated cardiomyopathy-1V AD
PSPH 172480 Phosphoserine phosphatase deficiency AR
PTCH1 601309 Gorlin syndrome; Holoprosencephaly-7 AD
PTEN 601728 Cowden syndrome 1; Cowden syndrome type 2; Bannayan-Riley-Ruvalcaba syndrome; Prostate Cancer; Macrocephaly/autism syndrome; Meningioma, familial, susceptibility to AD
PTF1A 607194 Pancreatic Agenesis 2 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
PTS 612719 Hyperphenylalaninemia, BH4-deficient, A AR
PURA 600473 mental retardation- 31 AD
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
PYGM 608455 glycogen storage disease type 5 AR
QARS1 603727 Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy AR
QDPR 612676 Hyperphenylalaninemia, BH4-deficient, C AR
RAB18 602207 Warburg micro syndrome 3 AR
RAB27A 603868 Griscelli syndrome, type 2 AR
RAB39B 300774 mental retardation 72 XLR
RAB3GAP1 602536 Warburg micro syndrome 1 AR
RAB3GAP2 609275 Martsolf syndrome; Warburg micro syndrome 2 AR
RAB7A 602298 type 2B Charcot-Marie-Tooth disease AD
RAD21 606462 Cornelia de Lange syndrome type 4 AD, AR
RAD50 604040 Nijmegen breakage syndrome-like disorder
RAF1 164760 Noonan syndrome 5; Cardiomyopathy, dilated, 1NN AD
RAI1 607642 Smith-Magenis syndrome AD
RANBP2 601181 acute infection-induced encephalopathy-3 AD
RAPSN 601592 congenital myasthenic syndrome, type 11, associated with acetylcholine receptor deficiency AR
RARS1 107820 hypomyelinating leukodystrophy-9 AR
RARS2 611524 pontocerebellar hypoplasia type 6 AR
RBBP8 604124 Jawad syndrome / Microcephaly with mental retardation and digital anomalies; Seckel syndrome 2 AR
RBCK1 610924 Polyglucosan body myopathy 1 with or without immunodeficiency AR
RBFOX1 605104
RBM10 300080 TARP syndrome XLR
RBM8A 605313 Thrombocytopenia-absent radius syndrome AR
RDH5 601617 Retinitis punctata albescens AD, AR
REEP1 609139 spastic paraplegia 31; Neuronopathy, distal hereditary motor, type VB AD
REEP2 609347 spastic paraplegia 72 AD, AR
RELN 600514 lissencephaly 2; familial temporal lobe epilepsy, 7 AD, AR
RET 164761 Hirschsprung disease; familial medullary thyroid carcinoma; multiple endocrine neoplasia 2B; pheochromocytoma; multiple endocrine neoplasia 2A; congenital central hypoventilation syndrome AD
RETREG1 613114 hereditary sensory and autonomic neuropathy type IIB AR
RFT1 611908 congenital disorder of glycosylation type 1n AR
RHO 180380 Retinitis punctata albescens; Night blindness, congenital stationary, autosomal dominant 1; Retinitis Pigmentosa 4 AD, AR
RIMS1 606629 Cone-rod dystrophy 7
RIN2 610222 MACS syndrome AR
RLBP1 180090 Retinitis punctata albescens AD, 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
RNF135 611358
RNF170 614649 AD
ROGDI 614574 Kohlschutter-Tonz syndrome AR
ROR2 602337 Brachydactyly, type B1; Robinow syndrome, autosomal recessive AD, AR
RPGRIP1L 610937 COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 AR
RPIA 180430 AR
RPL10 312173 Autism, susceptibility to, X-linked 5 XLR
RPS6KA3 300075 MENTAL RETARDATION, X-LINKED 19; Coffin-Lowry syndrome XLD
RRM2B 604712 mitochondrial DNA depletion syndrome 8A; progressive external ophthalmoplegia with mitochondrial DNA deletions 5 AD, AR
RTN2 603183 spastic paraplegia 12 AD
RUBCN 613516 autosomal recessive spinocerebellar ataxia 15 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
SACS 604490 spastic ataxia of Charlevoix-Saguenay AR
SALL1 602218 Townes-Brocks syndrome AD
SAMHD1 606754 Aicardi-Goutieres syndrome type 5; Chilblain lupus type 2 AD, AR
SASS6 609321 autosomal recessive primary microcephaly, 14 AR
SATB2 608148 SATB2-associated syndrome (SAS) :Glass syndrome AD
SBDS 607444 Shwachman-Bodian-Diamond syndrome; Aplastic Anemia AR
SBF1 603560 type 4B3 Charcot-Marie-Tooth disease AR
SBF2 607697 type 4B2 Charcot-Marie-Tooth disease AR
SCARB2 602257 Epilepsy, progressive myoclonic 4, with or without renal failure AR
SCN10A 604427 familial episodic pain syndrome, 2 AD
SCN1A 182389 generalized epilepsy with febrile seizures plus 2; early infantile epileptic encephalopathy 6; familial hemiplegic migraine-3 AD
SCN1B 600235 generalized epilepsy with febrile seizures plus-1; Brugada syndrome 5; Epileptic encephalopathy, early infantile, 52 AD, AR
SCN2A 182390 benign familial neonatal-infantile seizures type 3; early infantile epileptic encephalopathy 11 AD
SCN3A 182391 Epilepsy, familial focal, with variable foci 4; early infantile epileptic encephalopathy type 62 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
SCN8A 600702 Cognitive impairment with or without cerebellar ataxia; early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5 AD
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
SDCCAG8 613524 Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 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
SEC23B 610512 congenital dyserythropoietic anemia 2; Cowden syndrome 7 AD, AR
SELENON 606210 Myopathy, congenital, with fiber-type disproportion; rigid spine syndrome AD, AR
SEMA3A 603961 hypogonadotropic hypogonadism 16 with or without anosmia AD
SEPSECS 613009 pontocerebellar hypoplasia type 2D 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
SETBP1 611060 Schinzel-giedion midface retraction syndrome; mental retardation type 29 AD
SETD2 612778 Luscan-Lumish syndrome AD
SETX 608465 amyotrophic lateral sclerosis 4; autosomal recessive spinocerebellar ataxia 1 AD, AR
SGCA 600119 limb-girdle Muscular dystrophy type 3 AR
SGCB 600900 limb-girdle muscular dystrophy type 2E AR
SGCD 601411 limb-girdle muscular dystrophy type 2F; dilated cardiomyopathy-1L AR
SGCE 604149 myoclonus-dystonia AD
SGCG 608896 limb-girdle muscular dystrophy type 2C AR
SGSH 605270 mucopolysaccharidosis type IIIA AR
SH3TC2 608206 type 4C Charcot-Marie-Tooth disease; Mononeuropathy of the median nerve, mild AD, AR
SHANK2 603290 Autism susceptibility 17
SHH 600725 Holoprosencephaly 3; Solitary Median Maxillary Central Incisor; Schizencephaly; Microphthalmia, Isolated, With Coloboma 5 AD
SHOC2 602775 Noonan Syndrome-Like Disorder With Loose Anagen Hair AD
SHROOM4 300579 Stocco dos Santos X-linked mental retardation syndrome XL
SIGMAR1 601978 distal spinal muscular atrophy type 2; amyotrophic lateral sclerosis 16 AR
SIK1 605705 Epileptic encephalopathy, early infantile, 30 AD
SIL1 608005 Marinesco-Sjogren syndrome AR
SIX3 603714 Holoprosencephaly 2; Schizencephaly AD
SIX6 606326 Microphthalmia with cataract 2 AR
SKI 164780 Shprintzen-Goldberg Craniosynostosis Syndrome AD
SLC12A3 600968 Gitelman syndrome AR
SLC12A5 606726 early infantile epileptic encephalopathy type 34; susceptibility to idiopathic generalized epilepsy-14 AD, AR
SLC12A6 604878 Agenesis of the corpus callosum with peripheral neuropathy AR
SLC13A5 608305 early infantile epileptic encephalopathy 25 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
SLC1A2 600300 early infantile epileptic encephalopathy type 41 AD
SLC1A3 600111 episodic ataxia type 6 AD
SLC20A2 158378 Basal ganglia calcification, idiopathic, 1 AD
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
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
SLC27A4 604194 Ichthyosis prematurity syndrome
SLC2A1 138140 Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility to, 12 AD, AR
SLC2A10 606145 arterial tortuosity syndrome AR
SLC30A10 611146 Hypermanganesemia with dystonia, polycythemia, and cirrhosis AR
SLC33A1 603690 spastic paraplegia 42; Congenital cataracts, hearing loss, and neurodegeneration AD, AR
SLC35A1 605634 Congenital disorder of glycosylation, type IIf AR
SLC35A2 314375 congenital disorder of glycosylation type 2m XLD
SLC35A3 605632 ?Arthrogryposis, mental retardation, and seizures AR
SLC35C1 605881 Congenital disorder of glycosylation, type IIc 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
SLC4A4 603345 Renal tubular acidosis, proximal, with ocular abnormalities AR
SLC52A3 613350 Fazio-Londe disease; Brown-Vialetto-Van Laere syndrome 1 AR
SLC5A7 608761 Neuronopathy, distal hereditary motor, type VIIA; Myasthenic syndrome, congenital, 20, presynaptic AD, AR
SLC6A1 137165 Myoclonic-atonic epilepsy AD
SLC6A3 126455 Tobacco Addiction, Susceptibility To; Parkinsonism-dystonia, infantile AR
SLC6A5 604159 Hyperekplexia 3 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
SLC9A6 300231 Christianson type of X-linked syndromic mental retardation XLD
SLC9A9 608396 susceptibility to autism type 16
SLCO1B3 605495 Hyperbilirubinemia, Rotor type, digenic DiR
SMAD4 600993 Myhre syndrome; Juvenile polyposis syndrome, infantile form; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Pancreatic Cancer AD
SMARCA2 600014 Nicolaides-Baraitser syndrome AD
SMARCA4 603254 Rhabdoid tumor predisposition syndrome 2; mental retardation-16 AD
SMARCB1 601607 Schwannomatosis; Rhabdoid tumors, somatic; Coffin-Siris syndrome 3 AD
SMARCE1 603111 Meningioma, familial, susceptibility to AD
SMC1A 300040 Cornelia de Lange syndrome 2 XLD
SMC3 606062 Cornelia de Lange syndrome 3 AD
SMCHD1 614982 Fascioscapulohumeral muscular dystrophy 2, digenic AD
SMN1 600354 spinal muscular atrophy type 1; spinal muscular atrophy type 3; spinal muscular atrophy type 2; spinal muscular atrophy type 4 AR
SMN2 601627 spinal muscular atrophy type 3 AR
SMPD1 607608 Niemann-Pick disease type A; Niemann-Pick disease type A/B AR
SMS 300105 Snyder-Robinson mental retardation syndrome XLR
SNAI2 602150 Piebaldism; Waardenburg syndrome type 2d AD, AR
SNAP29 604202 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome AR
SNCA 163890 Lewy body dementia; Parkinson disease 1 AD
SNCB 602569 Lewy body dementia AD
SNIP1 608241 AR
SNTA1 601017 long QT syndrome 12 AD
SOBP 613667 AR
SOD1 147450 amyotrophic lateral sclerosis 1 AD, AR
SORL1 602005
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
SOX3 313430 Mental Retardation, X-Linked, With Panhypopituitarism; Panhypopituitarism, X-linked XL
SPART 607111 spastic paraplegia 20 AR
SPAST 604277 spastic paraplegia-4 AD
SPEG 615950 centronuclear myopathy type 5 AR
SPG11 610844 Amyotrophic lateral sclerosis 5, juvenile; spastic paraplegia type 11; Charcot-Marie-Tooth disease, axonal, type 2X AR
SPG21 608181 spastic paraplegia type 21 AR
SPG7 602783 spastic paraplegia 7 AD, AR
SPR 182125 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency ?AD, AR
SPRY4 607984 Hypogonadotropic hypogonadism 17 with or without anosmia AD
SPTAN1 182810 Epileptic encephalopathy, early infantile, 5 AD
SPTBN2 604985 spinocerebellar ataxia 5; autosomal recessive spinocerebellar ataxia 14 AD, AR
SPTLC1 605712 Neuropathy, hereditary sensory and autonomic, type IA AD
SPTLC2 605713 Neuropathy, hereditary sensory and autonomic, type ic AD
SQSTM1 601530 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset AD, AR
SRD5A3 611715 congenital disorder of glycosylation type 1q; Kahrizi syndrome AR
SSR4 300090 congenital disorder of glycosylation type 1y XLR
ST3GAL3 606494 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; early infantile epileptic encephalopathy, 15 AR
ST3GAL5 604402 Salt and pepper developmental regression syndrome AR
STAMBP 606247 Microcephaly-capillary malformation syndrome AR
STAT1 600555 Autosomal recessive Immunodeficiency 31B, mycobacterial and viral infections; Immunodeficiency 31C, autosomal dominant AD, AR
STIL 181590 primary microcephaly 7 AR
STRA6 610745 Microphthalmia, isolated, with coloboma 8 AR
STRADA 608626 Polyhydramnios, megalencephaly and symptomatic epilepsy AR
STT3A 601134 congenital disorder of glycosylation type 1w AR
STT3B 608605 Congenital disorder of glycosylation, type Ix AR
STUB1 607207 autosomal recessive spinocerebellar ataxia 16; ?Spinocerebellar ataxia 48 AD, AR
STX1B 601485 generalized epilepsy with febrile seizures plus-9 AD
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
SURF1 185620 Leigh syndrome AR, M
SYN1 313440 Epilepsy, X-linked, with variable learning disabilities and behavior disorders XLD, XLR
SYNE1 608441 autosomal recessive spinocerebellar ataxia 8; Emery-Dreifuss muscular dystrophy 4 AD, AR
SYNE2 608442 Emery-Dreifuss muscular dystrophy 5 AD
SYNGAP1 603384 MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 AD
SYNJ1 604297 Parkinson disease 20, early-onset; early infantile epileptic encephalopathy type 53 AR
SYP 313475 mental retardation 96 XLR
SZT2 615463 Epileptic encephalopathy, early infantile, 18 AR
TAC3 162330 hypogonadotropic hypogonadism 10 with or without anosmia AR
TACO1 612958 Mitochondrial complex IV deficiency AR, M
TACR3 162332 hypogonadotropic hypogonadism 11 with or without anosmia AR
TAF1 313650 syndromic X-linked mental retardation, 33; dystonia 3 XLR
TAF2 604912 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 AR
TAF6 602955 Alazami-Yuan syndrome AR
TARDBP 605078 amyotrophic lateral sclerosis 10 AD
TAS2R38 607751 AD
TAZ 300394 Barth syndrome XLR
TBC1D20 611663 Warburg micro syndrome 4 AR
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
TBK1 604834 Frontotemporal dementia and/or amyotrophic lateral sclerosis type 4; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 AD
TBL1XR1 608628 Pierpont syndrome; Mental retardation, autosomal dominant 41 AD
TBP 600075 Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 17 AD
TBX1 602054 Tetralogy of Fallot; DiGeorge syndrome; Velocardiofacial syndrome; Conotruncal Heart Malformations AD
TCAP 604488 limb-girdle muscular dystrophy type 2G; cardiomyopathy, familial hypertrophic, 25 AD, AR
TCF4 602272 Pitt-Hopkins syndrome AD
TCTN1 609863 Joubert syndrome 13 AR
TCTN2 613846 Meckel syndrome 8; Joubert syndrome type 24 AR
TCTN3 613847 oral-facial-digital syndrome 4; Joubert syndrome 18 AR
TECPR2 615000 spastic paraplegia type 49 AR
TECR 610057 mental retardation 14 AR
TECTA 602574 Deafness, autosomal dominant 8/12; deafness type 21 AD, AR
TFAP2A 107580 Branchiooculofacial syndrome AD
TFAP2B 601601 Char syndrome; Patent ductus arteriosus 2 AD
TFG 602498 Hereditary motor and sensory neuropathy, Okinawa type; spastic paraplegia 57 AD, AR
TFR2 604720 hemochromatosis type 3 AR
TG 188450 Thyroid dyshormonogenesis 3 AR
TGFB1 190180 Camurati-Engelmann disease; cystic fibrosis AD, AR
TGFB2 190220 Loeys-Dietz syndrome 4 AD
TGFB3 190230 Arrhythmogenic right ventricular dysplasia 1; Loeys-Dietz syndrome 5 AD
TGFBR1 190181 Multiple Self-Healing Squamous Epithelioma, Susceptibility To; Loeys-Dietz syndrome 1 AD
TGFBR2 190182 Esophageal cancer, somatic; Loeys-Dietz syndrome 2; Colorectal cancer, hereditary nonpolyposis, type 6 AD
TGIF1 602630 Holoprosencephaly-4 AD
TGM6 613900 spinocerebellar ataxia 35 AD
TH 191290 Segawa syndrome AR
THAP1 609520 dystonia 6 AD
THRA 190120 Hypothyroidism, congenital, nongoitrous, 6 AD
TICAM1 607601 AD, AR
TIMM8A 300356 Mohr-Tranebjaerg syndrome XLR
TINF2 604319 Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 AD
TIRAP 606252 Mycobacterium Tuberculosis, Susceptibility To; resistance to malaria
TK2 188250 mitochondrial DNA depletion syndrome 2 AR
TLR3 603029 Human Immunodeficiency Virus Type 1, Susceptibility To; Herpes simplex encephalitis, susceptibility to, 2 AD, AR
TLR5 603031
TMCO1 614123 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome AR
TMEM126A 612988 Optic Atrophy 7 AR
TMEM138 614459 Joubert syndrome 16 AR
TMEM165 614726 Congenital disorder of glycosylation, type IIk AR
TMEM216 613277 Meckel Syndrome type 2; Joubert syndrome type 2 AR
TMEM230 617019
TMEM231 614949 Joubert syndrome 20; Meckel syndrome, type 11 AR
TMEM237 614423 Joubert syndrome 14 AR
TMEM240 616101 spinocerebellar ataxia 21 AD
TMEM43 612048 arrhythmogenic right ventricular dysplasia 5 AD
TMEM67 609884 COACH syndrome; Meckel Syndrome, Type 3; Joubert syndrome 6; nephronophthisis 11; Bardet-Biedl syndrome type 14 AR
TMEM70 612418 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 AR
TMLHE 300777 susceptibility to autism type 6 XLR
TNF 191160 resistance to malaria AD
TNFSF4 603594 Myocardial infarction, decreased susceptibility to
TNNI2 191043 distal arthrogryposis type 2B AD
TNNT1 191041 Nemaline myopathy 5, Amish type AR
TNNT3 600692 AD
TNPO3 610032 limb-girdle muscular dystrophy type 1F AD
TOR1A 605204 dystonia 1 AD
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
TPK1 606370 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) AR
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
TRAF3 601896
TRAPPC11 614138 limb-girdle muscular dystrophy type 2S AR
TRAPPC9 611966 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 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
TRIM2 614141 type 2R Charcot-Marie-Tooth disease AR
TRIM32 602290 limb-girdle muscular dystrophy type 2H; Bardet-Biedl syndrome 11 AR
TRMT10A 616013 Microcephaly, short stature, and impaired glucose metabolism 1 AR
TRMU 610230 Deafness, Aminoglycoside-Induced; Liver Failure, Infantile, Transient AR, M
TRPC6 603652 Glomerulosclerosis, focal segmental, 2 AD
TRPM6 607009 Hypomagnesemia 1, intestinal AR
TRPM7 605692 AD
TRPS1 604386 trichorhinophalangeal syndrome 1 AD
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
TSEN2 608753 pontocerebellar hypoplasia type 2B AR
TSEN34 608754 pontocerebellar hypoplasia type 2C AR
TSEN54 608755 pontocerebellar hypoplasia type 4; pontocerebellar hypoplasia type 2A; pontocerebellar hypoplasia type 5 AR
TSFM 604723 Combined oxidative phosphorylation deficiency 3 AR
TSHB 188540 Hypothryoidism, congenital, nongoitrous 4 AR
TSHR 603372 Hypothyroidism, congenital, nongoitrous, 1 AD, AR
TSPAN7 300096 mental retardation 58 XLR
TTBK2 611695 spinocerebellar ataxia 11 AD
TTC19 613814 nuclear mitochondrial complex III deficiency type 2 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
TTI2 614426 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 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
TTPA 600415 ataxia with vitamin E deficiency AR
TTR 176300 familial transthyretin amyloidosis AD
TUBA1A 602529 lissencephaly 3 AD
TUBA4A 191110 amyotrophic lateral sclerosis 22 AD
TUBA8 605742 Polymicrogyria with optic nerve hypoplasia AR
TUBB2B 612850 Polymicrogyria, symmetric or asymmetric AD
TUBB3 602661 Fibrosis of extraocular muscles, congenital, 3A; Cortical dysplasia, complex, with other brain malformations AD
TUBB4A 602662 dystonia 4; hypomyelinating leukodystrophy-6 AD
TUBGCP4 609610 AR
TUBGCP6 610053 Microcephaly and chorioretinopathy with or without mental retardation AR
TUFM 602389 Combined oxidative phosphorylation deficiency 4 AR
TUSC3 601385 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 AR
TWIST1 601622 Saethre-Chotzen Syndrome; Craniosynostosis 1; Robinow-Sorauf syndrome AD
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
TYR 606933 Albinism, Ocular, With Sensorineural Deafness; oculocutaneous albinism type 1A; Skin/hair/eye pigmentation 3; Albinism, oculocutaneous, type IB AD, AR
TYROBP 604142 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy type 1 AR
UBA1 314370 X-linked infantile spinal muscular atrophy type 2 XLR
UBA5 610552 early infantile epileptic encephalopathy, 44 AR
UBE2A 312180 syndromic mental retardation, Nascimento type XLR
UBE3A 601623 Angelman syndrome AD
UBQLN2 300264 amyotrophic lateral sclerosis 15 XLD
UBR1 605981 Johanson-Blizzard syndrome AR
UCHL1 191342 Parkinson disease 5, autosomal dominant; autosomal recessive spastic paraplegia type 79 AD, AR
UMPS 613891 Orotic aciduria AR
UPB1 606673 Beta-ureidopropionase deficiency AR
UPF3B 300298 mental retardation 14 XLR
UQCRB 191330 Mitochondrial complex III deficiency, nuclear type 3 AR
UQCRQ 612080 Mitochondrial complex III deficiency, nuclear type 4 AR
USH2A 608400 Usher syndrome type 2A; retinitis pigmentosa type 39 AR
USP8 603158 Pituitary adenoma, ACTH-secreting; Pituitary adenoma 4, ACTH-secreting, somatic
USP9X 300072 mental retardation 99 XLD, XLR
VAMP1 185880 Spastic ataxia 1, autosomal dominant; Myasthenic syndrome, congenital, 25 AD, AR
VANGL1 610132 Neural tube defects; Caudal regression syndrome/Sacral defect with anterior meningocele AD
VAPB 605704 Finkel type late-onset spinal muscular atrophy; amyotrophic lateral sclerosis 8 AD
VCP 601023 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; amyotrophic lateral sclerosis 14; Charcot-Marie-Tooth disease type 2Y AD
VDR 601769 vitamin D-dependent rickets type 2A AR
VEGFA 192240 Microvascular complications of diabetes 1
VHL 608537 Renal carcinoma, chromophobe, somatic; pheochromocytoma; von Hippel-Lindau disease; Erythrocytosis, familial, 2 AD, AR
VIPAS39 613401 Arthrogryposis, renal dysfunction, and cholestasis 2 AR
VLDLR 192977 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome AR
VPS13A 605978 Choreoacanthocytosis AR
VPS13B 607817 Cohen syndrome AR
VPS35 601501 Parkinson disease 17 AD
VPS37A 609927 spastic paraplegia 53 AR
VPS53 615850 pontocerebellar hypoplasia type 2E AR
VRK1 602168 pontocerebellar hypoplasia type 1A AR
WAC 615049 Desanto-Shinawi syndrome AD
WASHC5 610657 Ritscher-Schinzel syndrome; spastic paraplegia 8 AD, AR
WDPCP 613580 Bardet-Biedl syndrome 15 AR
WDR11 606417 hypogonadotropic hypogonadism 14 with or without anosmia AD
WDR45 300526 neurodegeneration with brain iron accumulation 5 XLD
WDR62 613583 primary microcephaly 2 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
WNK1 605232 Neuropathy, hereditary sensory and autonomic, type II; Pseudohypoaldosteronism, type IIC AD, AR
WNT1 164820 osteogenesis imperfecta type 15; susceptibility to early-onset autosomal dominant osteoporosis AR
WNT10A 606268 Tooth agenesis, selective, 4; Schopf-Schulz-Passarge syndrome; Odontoonychodermal dysplasia AD, AR
WNT3 165330 Tetra-amelia, autosomal recessive AR
WNT5A 164975 Robinow syndrome, autosomal dominant AD
WNT7A 601570 Fuhrmann syndrome; Ulna and fibula, absence of, with sever limb deficiency AR
WWOX 605131 Esophageal cancer, somatic; autosomal recessive spinocerebellar ataxia 12; early infantile epileptic encephalopathy 28 AR
XBP1 194355
XK 314850 Mcleod syndrome XL
YAP1 606608 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation AD
YARS1 603623 intermediate type C Charcot-Marie-Tooth AD
YWHAE 605066
ZBTB16 176797 AR
ZBTB18 608433 mental retardation- 22 AD
ZDHHC9 300646 syndromic mental retardation, ZDHHC9-related XL
ZEB2 605802 Mowat-Wilson syndrome AD
ZFYVE26 612012 spastic paraplegia type 15 AR
ZFYVE27 610243 spastic paraplegia 33 AD
ZIC2 603073 Holoprosencephaly 5 AD
ZIC3 300265 Heterotaxy, visceral, 1, x-linked; Vacterl association, x-linked, with or without hydrocephalus XLR
ZNF335 610827 primary microcephaly 10 AR
ZNF41 314995
ZNF423 604557 nephronophthisis 14; Joubert syndrome 19 AD, AR
ZNF711 314990 mental retardation 97 XL
ZNF81 314998

COMMON SYNDROMES AND DISORDERS COVERED

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

Available downloads for CentoNeuroTM

  • Pediatric Neurology panels - Product sheet

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Ciliopathies panel

Our ciliopathies panel includes a group of disorders causing cilia dysfunction, including Joubert Syndrome, Bardet- Biedl, COACH syndrome, primary ciliary dyskinesia, Meckel syndrome, skeletal dysplasia, situs inversus, and heterotaxy, among others. If polycystic kidney disease is suspected, CentoNephro Plus is recommended, which includes PKD1 analysis.

No. of genes:194
TAT:25 days
Coverage:≥99.5% ≥20x
Details:

CNV analysis included


Gene OMIM (Gene) Associated diseases (OMIM) Inheritance
ACVR2B 602730 Heterotaxy, visceral, 4, autosomal
AGPS 603051 rhizomelic chondrodysplasia punctata type 3 AR
AHI1 608894 Joubert syndrome 3 AR
ALPL 171760 adult hypophosphatasia; infantile hypophosphatasia; childhood-onset hypophosphatasia AD, AR
ANKH 605145 Chondrocalcinosis 2; Craniometaphyseal dysplasia AD
ANO5 608662 gnathodiaphyseal dysplasia; limb-girdle muscular dystrophy type 2L AD, AR
ARHGAP31 610911 Adams-Oliver syndrome 1 AD
ARL13B 608922 Joubert syndrome 8 AR
ARL6 608845 Bardet-Biedl syndrome type 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 AR, DiR
ARMC4 615408 primary ciliary dyskinesia, 23 AR
ARSL 300180 Chondrodysplasia punctata, X-linked recessive XLR
ATR 601215 Seckel syndrome 1; ?Cutaneous telangiectasia and cancer syndrome, familial AD, AR
B9D1 614144 Meckel Syndrome, Type 9 AR
B9D2 611951 Meckel syndrome 10 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
BMP1 112264 osteogenesis imperfecta type 13 AR
BMPR1B 603248 Brachydactyly type A2; Chondrodysplasia, Acromesomelic, With Genital Anomalies AD, AR
C8orf37 614477 Cone-rod dystrophy 16; Bardet-Biedl syndrome type 21 AR
CANT1 613165 Desbuquois dysplasia type 1 AR
CASR 601199 Hypocalciuric hypercalcemia, type I; Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant, with Bartter syndrome; Epilepsy idiopathic generalized, susceptibility to, 8 AD, AR
CC2D2A 612013 COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 AR
CCDC103 614677 Ciliary dyskinesia, primary, 17 AR
CCDC114 615038 Ciliary dyskinesia, primary, 20 AR
CCDC151 615956 primary Ciliary dyskinesia type 30 AR
CCDC28B 610162 Bardet-Biedl syndrome type 1 AR, DiR
CCDC39 613798 Ciliary dyskinesia, primary, 14
CCDC40 613799 Ciliary dyskinesia, primary, 15
CCDC65 611088 Ciliary dyskinesia, primary, 27 AR
CCNO 607752 primary ciliary dyskinesia type 29 AR
CDKN1C 600856 Beckwith-Wiedemann syndrome; IMAGE syndrome AD
CENPF 600236 Stromme syndrome AR
CENPJ 609279 primary microcephaly 6; Seckel syndrome 4 AR
CEP152 613529 Seckel syndrome 5; primary microcephaly 9 AR
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
CEP41 610523 Joubert syndrome 15 AR
CEP63 614724 Seckel syndrome 6 AR
CFAP298 615494 primary ciliary dyskinesia type 26 AR
CFAP53 614759 Heterotaxy, visceral, 6, autosomal recessive AR
CFC1 605194 Heterotaxy, visceral, 2, autosomal AD
CHSY1 608183 AR
CILK1 612325 AD, AR
CLCN5 300008 Dent disease; Hypophosphatemic rickets; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis; Nephrolithiasis, type I XLR
COL10A1 120110 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE AD
COL9A3 120270 multiple epiphyseal dysplasia type 3 AD
COMP 600310 Epiphyseal Dysplasia, Multiple, 1; Pseudoachondroplasia AD
CPLANE1 614571 oral-facial-digital syndrome 6; Joubert syndrome 17 AR
CRELD1 607170 Atrioventricular septal defect, partial, with heterotaxy syndrome AD
CRTAP 605497 osteogenesis imperfecta type 7 AR
CSPP1 611654 Joubert syndrome 21 AR
DDR2 191311 Spondylometaepiphyseal dysplasia, short limb-hand type AD, AR
DHCR7 602858 Smith-Lemli-Opitz syndrome AR
DMP1 600980 Hypophosphatemic Rickets, Autosomal Recessive, 1 AR
DNAAF1 613190 Ciliary dyskinesia, primary, 13 AR
DNAAF2 612517 Ciliary dyskinesia, primary, 10
DNAAF3 614566 Ciliary dyskinesia, primary, 2 AR
DNAAF4 608706 Ciliary dyskinesia, primary, 25 AD, AR
DNAAF5 614864 Ciliary dyskinesia, primary, 18 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
DNAL1 610062 Ciliary dyskinesia, primary, 16 AR
DRC1 615288 primary ciliary dyskinesia, 21 AR
DYM 607461 Dyggve-Melchior-Clausen disease AR
DYNC2H1 603297 short-rib thoracic dysplasia-3 with or without polydactyly AR, DiR
DYNC2I1 615462 Short-rib thoracic dysplasia 8 with or without polydactyly AR
DYNC2I2 613363 Short-rib thoracic dysplasia 11 with or without polydactyly AR
EBP 300205 MEND syndrome; Chondrodysplasia punctata, X-linked dominant XLD, XLR
EIF2AK3 604032 Wolcott-Rallison syndrome 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
ESCO2 609353 Roberts syndrome AR
EVC 604831 Weyers acrofacial dysostosis; Ellis-van Creveld syndrome AD, AR
EVC2 607261 Weyers acrofacial dysostosis; Ellis-van Creveld syndrome AD, AR
FGF23 605380 Hypophosphatemic rickets, autosomal dominant AD, AR
FKBP10 607063 Bruck syndrome 1; osteogenesis imperfecta type 11 AR
FLNB 603381 Atelosteogenesis, type i; Atelosteogenesis, type iii; Boomerang dysplasia; Larsen syndrome; Spondylocarpotarsal synostosis syndrome AD, AR
GDF1 602880 Right atrial isomerism; Transposition of the great arteries, dextro-looped 3 AD, AR
GDF5 601146 Brachydactyly type A2; Brachydactyly type C; Grebe type chondrodysplasia; Hunter-Thompson type of acromesomelic dysplasia; Du Pan syndrome; multiple synostoses syndrome type 2; susceptibility to osteoarthritis type 5; brachydactyly type A1; proximal symphalangism type 1B AD, AR
GLI2 165230 holoprosencephaly 9; Culler-Jones syndrome AD
GLI3 165240 Pallister-Hall syndrome; Polydactyly, postaxial, types A1 and B; Preaxial polydactyly type IV; Greig cephalopolysyndactyly syndrome AD
GNAS 139320 Pseudohypoparathyroidism Ia; Osseous heteroplasia, progressive; McCune-Albright syndrome, somatic, mosaic; ACTH-independent macronodular adrenal hyperplasia; Pseudohypoparathyroidism type Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism AD
GNPAT 602744 rhizomelic chondrodysplasia punctata type 2 AR
HEXA 606869 Tay-Sachs disease/ GM2-gangliosidosis AR
HSPG2 142461 Silverman-Handmaker type of dyssegmental dysplasia; Schwartz-Jampel syndrome AR
HYDIN 610812 primary ciliary dyskinesia type 5 AR
HYLS1 610693 Hydrolethalus syndrome AR
IFITM5 614757 osteogenesis imperfecta type 5 AD
IFT122 606045 Cranioectodermal dysplasia 1 AR
IFT140 614620 Mainzer-Saldino syndrome; retinitis pigmentosa type 80 AR
IFT172 607386 Short-rib thoracic dysplasia 10 with or without polydactyly AR
IFT27 615870 Bardet-Biedl syndrome 19 AR
IFT43 614068 Cranioectodermal dysplasia 3 AR
IFT80 611177 AR
INPP5E 613037 Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis AR
INPPL1 600829 Opsismodysplasia AR
KIF7 611254 Acrocallosal syndrome; Joubert syndrome 12; Hydrolethalus syndrome 2 AR
LBR 600024 Pelger-Huet anomaly; Greenberg skeletal dysplasia AD, AR
LEFTY2 601877
LEP 164160 Leptin deficiency AR
LEPR 601007 Morbid obesity due to leptin receptor deficiency AR
LIFR 151443 Stuve-Wiedemann syndrome AR
LRP5 603506 Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus; OSTEOPOROSIS; Osteoporosis-pseudoglioma syndrome; Exudative vitreoretinopathy 4; Bone Mineral Density Quantitative Trait Locus 1; autosomal dominant osteopetrosis type 1; van Buchem disease, type 2 AD, AR
LRRC6 614930 Ciliary dyskinesia, primary, 19 AR
LZTFL1 606568 Bardet-Biedl syndrome 17 AR
MATN3 602109 Epiphyseal dysplasia, multiple, 5 AD, 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
MMP13 600108 Metaphyseal dysplasia, Spahr type; Spondyloepimetaphyseal dysplasia, Missouri type AD, AR
MMP21 608416 Heterotaxy, visceral, 7, autosomal AR
MMP9 120361 Metaphyseal anadysplasia 2
MYO7A 276903 Usher syndrome type 1B; deafness type 2; autosomal dominant deafness type 11 AD, AR
NEK1 604588 Short-rib thoracic dysplasia 6 with or without polydactyly AD, AR, DiR
NEK8 609799 nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 AR
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
NKX3-2 602183 Spondylo-megaepiphyseal-metaphyseal dysplasia AR
NME8 607421 Ciliary dyskinesia, primary, 6 AR
NODAL 601265 Heterotaxy, visceral, 5, autosomal AD
NOG 602991 proximal symphalangism 1A AD
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
NSDHL 300275 CK syndrome; CHILD syndrome XLD, XLR
OFD1 300170 Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1 XLD, XLR
P3H1 610339 osteogenesis imperfecta type 8 AR
PDE6D 602676 Joubert syndrome 22 AR
PEX7 601757 Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger) AR
PHEX 300550 X-linked dominant hypophosphatemic rickets XLD
PHF6 300414 Borjeson-Forssman-Lehmann syndrome XLR
PKD1L1 609721 Visceral heterotaxy type 8 AR
PKD2 173910 polycystic kidney disease type 2 AD
PKHD1 606702 polycystic kidney disease type 4 with or without polycystic liver disease AR
PLOD2 601865 Bruck syndrome 2 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
PPIB 123841 osteogenesis imperfecta type 9 AR
PRKAR1A 188830 Acrodysostosis 1 With Or Without Hormone Resistance; Carney complex, type 1; Myxoma, intracardiac; Pigmented nodular adrenocortical disease, primary, 1 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
PTH1R 168468 primary failure of tooth eruption; Metaphyseal chondrodysplasia, Murk Jansen type; Chondrodysplasia, Blomstrand type; Eiken syndrome AD, AR
RBBP8 604124 Jawad syndrome / Microcephaly with mental retardation and digital anomalies; Seckel syndrome 2 AR
RDH5 601617 Retinitis punctata albescens AD, 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
ROR2 602337 Brachydactyly, type B1; Robinow syndrome, autosomal recessive AD, AR
RPGRIP1L 610937 COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 AR
RSPH1 609314 primary ciliary dyskinesia, 24 AR
RSPH4A 612647 Ciliary dyskinesia, primary, 11
RSPH9 612648 Ciliary dyskinesia, primary, 12
RUNX2 600211 Cleidocranial dysplasia AD
SALL1 602218 Townes-Brocks syndrome AD
SALL4 607343 Okihiro syndrome AD
SBDS 607444 Shwachman-Bodian-Diamond syndrome; Aplastic Anemia AR
SDCCAG8 613524 Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 AR
SERPINF1 172860 osteogenesis imperfecta type 6 AR
SERPINH1 600943 Preterm premature rupture of the membranes, susceptibility to; osteogenesis imperfecta type 10 AR
SLC26A2 606718 Diastrophic dysplasia; multiple epiphyseal dysplasia type 4; Atelosteogenesis type II; Achondrogenesis type IB AR
SLC34A3 609826 Hypophosphatemic rickets with hypercalciuria AR
SLC35D1 610804 Schneckenbecken dysplasia AR
SOX9 608160 campomelic dysplasia AD
SPAG1 603395 Primary Ciliary dyskinesia type 28 AR
TBX5 601620 Holt-Oram syndrome AD
TCTN1 609863 Joubert syndrome 13 AR
TCTN2 613846 Meckel syndrome 8; Joubert syndrome type 24 AR
TCTN3 613847 oral-facial-digital syndrome 4; Joubert syndrome 18 AR
TMEM138 614459 Joubert syndrome 16 AR
TMEM216 613277 Meckel Syndrome type 2; Joubert syndrome type 2 AR
TMEM231 614949 Joubert syndrome 20; Meckel syndrome, type 11 AR
TMEM237 614423 Joubert syndrome 14 AR
TMEM67 609884 COACH syndrome; Meckel Syndrome, Type 3; Joubert syndrome 6; nephronophthisis 11; Bardet-Biedl syndrome type 14 AR
TNFRSF11B 602643 Paget disease of bone 5, juvenile-onset AR
TRIM32 602290 limb-girdle muscular dystrophy type 2H; Bardet-Biedl syndrome 11 AR
TRIP11 604505 Achondrogenesis, type IA AR
TRPS1 604386 trichorhinophalangeal syndrome 1 AD
TRPV4 605427 Brachyolmia type 3; Metatropic dysplasia; Spondylometaphyseal dysplasia, Kozlowski type; Hereditary motor and sensory neuropathy, type IIc AD
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
WDPCP 613580 Bardet-Biedl syndrome 15 AR
WDR19 608151 Short-rib thoracic dysplasia 5 with or without polydactyly; nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8 AR
WDR35 613602 Cranioectodermal dysplasia 2 AR
WNT5A 164975 Robinow syndrome, autosomal dominant AD
WNT7A 601570 Fuhrmann syndrome; Ulna and fibula, absence of, with sever limb deficiency AR
ZIC3 300265 Heterotaxy, visceral, 1, x-linked; Vacterl association, x-linked, with or without hydrocephalus XLR
ZMYND10 607070 primary ciliary dyskinesia, 22 AR
ZNF423 604557 nephronophthisis 14; Joubert syndrome 19 AD, AR

Common syndromes and disorders covered

Bardet-Biedl syndrome
Heterotaxy syndrome
Joubert syndrome
Primary ciliary dyskinesia
Skeletal dysplasia
Skeletal ciliopathy

Dementia panel

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

No. of genes:57
TAT:25 days
Coverage:≥99.5% ≥20x
Details:

CNV analysis included
Repeat expansion analysis: ATXN2, C9ORF72, PRNP


Gene OMIM (Gene) Associated diseases (OMIM) Inheritance
ALS2 606352 amyotrophic lateral sclerosis 2; Spastic paralysis, infantile onset ascending AR
ANG 105850 amyotrophic lateral sclerosis 9
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
ARSA 607574 metachromatic leukodystrophy AR
ATL1 606439 spastic paraplegia 3A AD
ATP7B 606882 Wilson disease AR
ATXN2 601517 Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 2 AD
BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary motor, type V; Encephalopathy, progressive, with or without lipodystrophy AD, AR
C9orf72 614260 frontotemporal dementia and/or amyotrophic lateral sclerosis AD
CHCHD10 615903 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 AD
CHMP2B 609512 Dementia, familial, nonspecific; amyotrophic lateral sclerosis 17 AD
CP 117700 aceruloplasminemia AR
CSF1R 164770 hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia AD, AR
DCTN1 601143 amyotrophic lateral sclerosis 1; Perry syndrome; Neuronopathy, Distal Hereditary Motor, Type Viib AD, AR
ERBB4 600543 Amyotrophic lateral sclerosis 19 AD
FIG4 609390 Yunis-Varon syndrome; type 4J Charcot-Marie-Tooth disease; amyotrophic lateral sclerosis 11; Polymicrogyria, bilateral temporooccipital AD, AR
FTL 134790 Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3 AD, AR
FUS 137070 amyotrophic lateral sclerosis 6; Tremor, hereditary essential, 4 AD
GRN 138945 frontotemporal lobar degeneration with ubiquitin-positive inclusions; neuronal ceroid lipofuscinosis type 11 AD, AR
HEXA 606869 Tay-Sachs disease/ GM2-gangliosidosis AR
HNRNPA1 164017 Amyotrophic lateral sclerosis 20 AD
HSPD1 118190 spastic paraplegia 13; hypomyelinating leukodystrophy-4 AD, AR
ITM2B 603904 Cerebral amyloid angiopathy, itm2b-related, 2; Cerebral amyloid angiopathy, itm2b-related, 1 AD
KIF5A 602821 spastic paraplegia 10; Neonatal intractable myoclonus AD
MAPT 157140 Susceptibility to late-onset Parkinson disease; Pick disease; Dementia, frontotemporal AD, AR
MATR3 164015 Myopathy, Distal, 2 AD
NEFH 162230 amyotrophic lateral sclerosis 1; Charcot-Marie-Tooth disease, axonal, type 2CC AD, AR
NOTCH3 600276 CADASIL; Lateral meningocele syndrome AD
NPC1 607623 Niemann-Pick disease type C/D AR
OPTN 602432 Adult-onset primary open angle glaucoma; Glaucoma, normal tension, susceptibility to; amyotrophic lateral sclerosis 12 AD
PANK2 606157 neurodegeneration with brain iron accumulation type 1; HARP syndrome AR
PFN1 176610 amyotrophic lateral sclerosis 18
PRNP 176640 Creutzfeldt-Jakob disease; Gerstmann-Straussler disease; Kuru, susceptibility to; Insomnia, fatal familial; Huntington disease-like 1; Prion disease with protracted course AD
PRPH 170710 amyotrophic lateral sclerosis 1 AD, AR
PSEN1 104311 Pick disease; Dementia, frontotemporal; early-onset familial Alzheimer disease-3; dilated cardiomyopathy-1U; Acne inversa, familial, 3 AD
PSEN2 600759 Alzheimer disease, type 4; dilated cardiomyopathy-1V AD
REEP1 609139 spastic paraplegia 31; Neuronopathy, distal hereditary motor, type VB AD
SETX 608465 amyotrophic lateral sclerosis 4; autosomal recessive spinocerebellar ataxia 1 AD, AR
SIGMAR1 601978 distal spinal muscular atrophy type 2; amyotrophic lateral sclerosis 16 AR
SLC52A3 613350 Fazio-Londe disease; Brown-Vialetto-Van Laere syndrome 1 AR
SNCA 163890 Lewy body dementia; Parkinson disease 1 AD
SOD1 147450 amyotrophic lateral sclerosis 1 AD, AR
SORL1 602005
SPAST 604277 spastic paraplegia-4 AD
SPG11 610844 Amyotrophic lateral sclerosis 5, juvenile; spastic paraplegia type 11; Charcot-Marie-Tooth disease, axonal, type 2X AR
SQSTM1 601530 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset AD, AR
TARDBP 605078 amyotrophic lateral sclerosis 10 AD
TBK1 604834 Frontotemporal dementia and/or amyotrophic lateral sclerosis type 4; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 AD
TREM2 605086 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy type 2 AD
TUBA4A 191110 amyotrophic lateral sclerosis 22 AD
TYROBP 604142 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy type 1 AR
UBE3A 601623 Angelman syndrome AD
UBQLN2 300264 amyotrophic lateral sclerosis 15 XLD
VAPB 605704 Finkel type late-onset spinal muscular atrophy; amyotrophic lateral sclerosis 8 AD
VCP 601023 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; amyotrophic lateral sclerosis 14; Charcot-Marie-Tooth disease type 2Y AD
WASHC5 610657 Ritscher-Schinzel syndrome; spastic paraplegia 8 AD, AR

Common syndromes and disorders covered

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

Dystonia panel

Our dystonia panel includes a selection of genes that help to differentiate between different types of dystonia, including isolated, dystonia plus parkinsonism, dystonia plus myoclonus, dystonia plus another dyskinesia, and complex dystonias. Additionally, our panel includes genes associated with primary familial brain calcification, disorders of heavy metal metabolism, neurodegeneration with brain iron accumulation, some lipid storage disorders, arylsulfatase A deficiency, leukodystrophies, and specific metabolic diseases necessary for differential diagnosis. Our dystonia panel provides the knowledge to help solve the genetic cause of dyskinesia. This panel does not detect Huntington disease or diseases with repeat expansion as the mechanism of disease.

No. of genes:88
TAT:25 days
Coverage:≥99.5% ≥20x
Details:CNV analysis included

Gene OMIM (Gene) Associated diseases (OMIM) Inheritance
ADAR 146920 Dyschromatosis symmetrica hereditaria; Aicardi-Goutieres syndrome type 6 AD, AR
ADCY5 600293 Dyskinesia, familial, with facial myokymia AD
ANO3 610110 Dystonia 24 AD
ARSA 607574 metachromatic leukodystrophy AR
ATM 607585 familial breast-ovarian cancer type 2; ataxia-telangiectasia AD, AR
ATP13A2 610513 Kufor-Rakeb syndrome; spastic paraplegia type 78 AR
ATP1A3 182350 Dystonia 12; Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; Alternating hemiplegia of childhood 2 AD
ATP7B 606882 Wilson disease AR
BCAP31 300398 Deafness, dystonia, and cerebral hypomyelination; ddch contiguous abcd1/dxs1375e deletion syndrome, included; cadds, included XLR
BTD 609019 biotinidase deficiency AR
C19orf12 614297 neurodegeneration with brain iron accumulation 4; spastic paraplegia 43 AD, AR
CACNA1B 601012 Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements AR
CBS 613381 homocystinuria with or without response to pyridoxine 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
COASY 609855 Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia type 12 AR
COL6A3 120250 Bethlem myopathy type 1; Ullrich congenital muscular dystrophy; dystonia 27 AD, AR
CP 117700 aceruloplasminemia AR
CTSD 116840 neuronal ceroid lipofuscinosis type 10 AR
CTSF 603539 neuronal ceroid lipofuscinosis type 13 AR
D2HGDH 609186 D-2-Hydroxyglutaric Aciduria 1 AR
DCAF17 612515 Woodhouse-Sakati syndrome AR
DDC 107930 Aromatic L-amino acid decarboxylase deficiency AR
DNAJC5 611203 neuronal ceroid lipofuscinosis type 4, Parry type AD
ECHS1 602292 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency AR
FA2H 611026 spastic paraplegia 35 AR
FTL 134790 Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3 AD, AR
FUCA1 612280 fucosidosis AR
GALC 606890 Krabbe disease AR
GALT 606999 galactosemia AR
GAMT 601240 guanidinoacetate methyltransferase deficiency AR
GATM 602360 Cerebral creatine deficiency syndrome 3 AD, AR
GCDH 608801 glutaric academia type I AR
GCH1 600225 dopa-responsive dystonia; Hyperphenylalaninemia, BH4-deficient, B AD, AR
GLB1 611458 GM1-gangliosidosis; GM1-gangliosidosis type II; GM1-gangliosidosis type III; mucopolysaccharidosis type IVB AR
GM2A 613109 GM2-gangliosidosis, AB variant AR
GNAL 139312 dystonia 25 AD
GRN 138945 frontotemporal lobar degeneration with ubiquitin-positive inclusions; neuronal ceroid lipofuscinosis type 11 AD, AR
HPCA 142622 dystonia 2 AR
HPRT1 308000 Lesch-Nyhan syndrome; Kelley-Seegmiller syndrome XLR
KCNMA1 600150 Generalized epilepsy and paroxysmal dyskinesia; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16 AD, AR
KCTD17 616386 Dystonia 26, myoclonic AD
KCTD7 611725 progressive myoclonic epilepsy type 3 with or without intracellular inclusions AR
MCEE 608419 Methylmalonyl-coa epimerase deficiency 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
MMADHC 611935 methylmalonic aciduria (MMA) of the cblD complementation type AR
MMUT 609058 complete deficiency of methylmalonyl-CoA mutase AR
NPC1 607623 Niemann-Pick disease type C/D AR
NPC2 601015 Niemann-Pick disease type C2 AR
PAH 612349 phenylketonuria AR
PANK2 606157 neurodegeneration with brain iron accumulation type 1; HARP syndrome AR
PLA2G6 603604 infantile neuroaxonal dystrophy; neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 AR
PLP1 300401 Pelizaeus-Merzbacher disease; spastic paraplegia 2 XLR
PNKD 609023 dystonia 8 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
PPT1 600722 neuronal ceroid lipofuscinosis type 1 AR
PRKN 602544 Ovarian Cancer; Lung Cancer; Parkinson disease 2 AR
PRKRA 603424 dystonia 16 AR
PRRT2 614386 Episodic kinesigenic dyskinesia 1; Convulsions, familial infantile, with paroxysmal choreoathetosis; Seizures, benign familial infantile, 2 AD
RELN 600514 lissencephaly 2; familial temporal lobe epilepsy, 7 AD, AR
RNASEH2A 606034 Aicardi-Goutieres syndrome type 4 AR
RNASEH2B 610326 Aicardi-Goutieres syndrome type 2 AR
RNASEH2C 610330 Aicardi-Goutieres syndrome 3 AR
SAMHD1 606754 Aicardi-Goutieres syndrome type 5; Chilblain lupus type 2 AD, AR
SERAC1 614725 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL syndrome). AR
SGCE 604149 myoclonus-dystonia AD
SLC19A3 606152 biotin-thiamine-responsive basal ganglia disease AR
SLC20A2 158378 Basal ganglia calcification, idiopathic, 1 AD
SLC2A1 138140 Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility to, 12 AD, AR
SLC30A10 611146 Hypermanganesemia with dystonia, polycythemia, and cirrhosis AR
SLC6A3 126455 Tobacco Addiction, Susceptibility To; Parkinsonism-dystonia, infantile AR
SLC6A8 300036 Cerebral creatine deficiency syndrome type 1 XLR
SPR 182125 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency ?AD, AR
SUCLA2 603921 mitochondrial DNA depletion syndrome 5 AR
TH 191290 Segawa syndrome AR
THAP1 609520 dystonia 6 AD
TIMM8A 300356 Mohr-Tranebjaerg syndrome XLR
TOR1A 605204 dystonia 1 AD
TPP1 607998 neuronal ceroid lipofuscinosis type 2; autosomal recessive spinocerebellar ataxia type 7 AR
TREX1 606609 systemic lupus erythematosus; retinal vasculopathy with cerebral leukodystrophy; Aicardi-Goutieres syndrome type 1; chilblain lupus type 1 AD, AR
TUBB4A 602662 dystonia 4; hypomyelinating leukodystrophy-6 AD
VPS13A 605978 Choreoacanthocytosis AR
WDR45 300526 neurodegeneration with brain iron accumulation 5 XLD
XK 314850 Mcleod syndrome XL

Common syndromes and disorders covered

Complex dystonia
Disorders of heavy metal metabolism
Dopa-responsive dystonia
Dystonia
Leukodystrophy
Myoclonic dystonia
Primary familial brain calcification

Epilepsy panel

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

No. of genes:547
TAT:25 days
Coverage:≥99.5% ≥20x
Details:CNV analysis included
Repeat expansion analysis: CSTB

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
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
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
ACADVL 609575 very long chain acyl-CoA dehydrogenase deficiency AR
ACOX1 609751 Peroxisomal acyl-CoA oxidase deficiency AR
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
ADSL 608222 Adenylosuccinase deficiency AR
AFG3L2 604581 spinocerebellar ataxia 28; spastic ataxia 5 AD, AR
AGA 613228 Aspartylglucosaminuria AR
AGK 610345 Sengers syndrome; autosomal recessive cataract type 38 AR
AGPS 603051 rhizomelic chondrodysplasia punctata type 3 AR
AIFM1 300169 Deafness, X-linked 5; Combined oxidative phosphorylation deficiency 6; Cowchock syndrome XLR
AIMP1 603605 hypomyelinating leukodystrophy-3 AR
ALDH3A2 609523 Sjogren-Larsson syndrome AR
ALDH5A1 610045 Succinic semialdehyde dehydrogenase deficiency AR
ALDH7A1 107323 pyridoxine-dependent epilepsy 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
AMT 238310 glycine encephalopathy 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
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
ARHGEF9 300429 Epileptic encephalopathy, early infantile, 8 XLR
ARSA 607574 metachromatic leukodystrophy AR
ARSB 611542 mucopolysaccharidosis type VI AR
ARV1 611647 early infantile epileptic encephalopathy type 38 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
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
ATP1A2 182340 familial hemiplegic migraine type 2 AD
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
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
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
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
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
CACNA1A 601011 episodic ataxia type 2; familial hemiplegic migraine 1; spinocerebellar ataxia 6; early infantile epileptic encephalopathy, 42 AD
CACNA1H 607904 childhood absence epilepsy type 6 AD
CACNB4 601949 Epilepsy, Idiopathic Generalized, Susceptibility To, 9; Episodic ataxia, type 5 AD
CASK 300172 Fg Syndrome 4; Mental retardation and microcephaly with pontine and cerebellar hypoplasia XLD
CAV1 601047 AD, AR
CDKL5 300203 early infantile epileptic encephalopathy 2 XLD
CERS1 606919 Progressive myoclonic epilepsy-8 AR
CHD2 602119 childhood-onset epileptic encephalopathy AD
CHRNA2 118502 Epilepsy, Nocturnal Frontal Lobe, 4 AD
CHRNA4 118504 Tobacco Addiction, Susceptibility To; Epilepsy, nocturnal frontal lobe, 1 AD
CHRNB2 118507 Epilepsy, nocturnal frontal lobe, 3
CLCN2 600570 Epilepsy, Idiopathic Generalized, Susceptibility To, 11; Leukoencephalopathy with ataxia AD, AR
CLCN4 302910 MENTAL RETARDATION, X-LINKED 49 XLD
CLDN16 603959 renal hypomagnesemia type 3 AR
CLDN19 610036 Hypomagnesemia 5, renal, with ocular involvement 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
CLPP 601119 Perrault syndrome 3 AR
CNNM2 607803 Hypomagnesemia 6, renal; hypomagnesemia, seizures, and mental retardation type 1 AD, AR
CNTNAP2 604569 Pitt-Hopkins like syndrome 1; Autism susceptibility 15 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
CPA6 609562 Epilepsy, familial temporal lobe, 5; Febrile seizures, familial, 11 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
CSTB 601145 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) AR
CTC1 613129 Cerebroretinal microangiopathy with calcifications and cysts AR
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
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
DDOST 602202 Congenital disorder of glycosylation, type Ir AR
DEPDC5 614191 Epilepsy, familial focal, with variable foci AD
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
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
DNM1 602377 early infantile epileptic encephalopathy, 31 AD
DNM1L 603850 Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission AD, AR
DOCK7 615730 early infantile epileptic encephalopathy 23 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
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
DYRK1A 600855 MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 AD
EARS2 612799 Combined oxidative phosphorylation deficiency 12 AR
ECHS1 602292 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency AR
EEF1A2 602959 MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; early infantile epileptic encephalopathy type 33 AD
EFHC1 608815 Epilepsy, myoclonic juvenile AD
EGF 131530 Hypomagnesemia 4, renal
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
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
FAH 613871 tyrosinemia type 1 AR
FAM126A 610531 hypomyelinating leukodystrophy-5 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
FBXL4 605654 mitochondrial DNA depletion syndrome 13 AR
FGF12 601513 AD
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
FOXG1 164874 Rett syndrome, congenital variant AD
FOXRED1 613622 AR
FRRS1L 604574 Epileptic encephalopathy, early infantile, 37 AR
FTL 134790 Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3 AD, AR
FUCA1 612280 fucosidosis AR
FXYD2 601814 Hypomagnesemia-2, renal AD
GAA 606800 Pompe disease AR
GABRA1 137160 Epilepsy, Juvenile Myoclonic, Susceptibility To, 5; early infantile epileptic encephalopathy, 19 AD
GABRB3 137192 Epilepsy, Childhood Absence, Susceptibility To, 5 AD
GABRD 137163 Epilepsy, idiopathic generalized, 10 AD
GABRG2 137164 Epilepsy, Childhood Absence, Susceptibility To, 2; Generalized epilepsy with febrile seizures plus type 3 AD
GALC 606890 Krabbe disease AR
GALNS 612222 mucopolysaccharidosis type IVA AR
GALT 606999 galactosemia AR
GAMT 601240 guanidinoacetate methyltransferase deficiency AR
GAN 605379 giant axonal neuropathy 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
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
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
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
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
GNAO1 139311 early infantile epileptic encephalopathy 17; neurodevelopmental disorder with involuntary movements AD
GNE 603824 Sialuria; Nonaka myopathy AD, 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
GRIN1 138249 mental retardation- 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures AD, AR
GRIN2A 138253 Epilepsy, focal, with speech disorder and with or without mental retardation AD
GRIN2B 138252 MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; early infantile epileptic encephalopathy 27 AD
GRN 138945 frontotemporal lobar degeneration with ubiquitin-positive inclusions; neuronal ceroid lipofuscinosis type 11 AD, AR
GTPBP3 608536 Combined oxidative phosphorylation deficiency 23 AR
GUF1 617064 early infantile epileptic encephalopathy, 40 AR
GUSB 611499 mucopolysaccharidosis type VII AR
HADHA 600890 mitochondrial trifunctional protein deficiency; long-chain 3-hydroxyl-CoA dehydrogenase deficiency AR
HADHB 143450 mitochondrial trifunctional protein deficiency AR
HCFC1 300019 mental retardation 3 XLR
HCN1 602780 early infantile epileptic encephalopathy 24 AD
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
HGSNAT 610453 mucopolysaccharidosis type IIIC; retinitis pigmentosa type 73 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
HNRNPU 602869 Epileptic encephalopathy, early infantile, 54 AD
HRAS 190020 Bladder Cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Costello syndrome AD
HSD17B4 601860 Perrault syndrome type 1; D-bifunctional protein 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
IFIH1 606951 Singleton-Merten syndrome type 1; Aicardi-Goutieres syndrome 7 AD
IQSEC2 300522 MENTAL RETARDATION, X-LINKED 1 XLD
ISCA2 615317 Multiple mitochondrial dysfunctions syndrome type 4 AR
ITPA 147520 Epileptic encephalopathy, early infantile, 35 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
KCNA1 176260 Episodic ataxia/myokymia syndrome AD
KCNA2 176262 Epileptic encephalopathy, early infantile, 32 AD
KCNB1 600397 early infantile epileptic encephalopathy 26 AD
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
KCNMA1 600150 Generalized epilepsy and paroxysmal dyskinesia; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16 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
KIF5A 602821 spastic paraplegia 10; Neonatal intractable myoclonus 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
LGI1 604619 Epilepsy, familial temporal lobe, 1 AD
LIAS 607031 Pyruvate dehydrogenase lipoic acid synthetase deficiency AR
LIPA 613497 Wolman disease / cholesteryl ester storage disease AR
LIPT1 610284 Lipoyltransferase 1 deficiency AR
LMNB1 150340 Leukodystrophy, adult-onset, autosomal dominant AD
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
MBD5 611472 mental retardation-1 AD
MCCC1 609010 3-Methylcrotonyl-CoA carboxylase 1 deficiency AR
MCCC2 609014 3-methylcrotonyl-CoA carboxylase 2 deficiency AR
MCOLN1 605248 Mucolipidosis type IV 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
MED17 603810 postnatal progressive microcephaly, seizures, and brain atrophy AR
MEF2C 600662 mental retardation- 20 AD
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
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
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
MTOR 601231 Smith-Kingsmore syndrome AD
MTR 156570 homocystinuria-megaloblastic anemia, cblG 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
NECAP1 611623 early infantile epileptic encephalopathy 21 AR
NEDD4L 606384 Periventricular nodular heterotopia 7 AD
NEU1 608272 neuraminidase deficiency 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
NRXN1 600565 Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome AR
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
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
PAH 612349 phenylketonuria AR
PANK2 606157 neurodegeneration with brain iron accumulation type 1; HARP syndrome AR
PC 608786 pyruvate carboxylase deficiency AR
PCCA 232000 propionic acidemia AR
PCCB 232050 propionic acidemia AR
PCDH19 300460 early infantile epileptic encephalopathy type 9 XL
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
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
PGK1 311800 Phosphoglycerate kinase 1 deficiency XLR
PGM1 171900 congenital disorder of glycosylation type 1t AR
PHYH 602026 Refsum disease AR
PIGA 311770 Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2 XLR
PIGO 614730 Hyperphosphatasia with mental retardation syndrome 2 AR
PIGV 610274 Hyperphosphatasia with mental retardation syndrome type 1 AR
PLA2G6 603604 infantile neuroaxonal dystrophy; neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 AR
PLCB1 607120 early infantile epileptic encephalopathy 12 AR
PLCG2 600220 Familial cold autoinflammatory syndrome 3 AD
PLP1 300401 Pelizaeus-Merzbacher disease; spastic paraplegia 2 XLR
PMM2 601785 congenital disorder of glycosylation type 1a AR
PNKP 605610 type 2B2 Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 10 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
POLR3A 614258 hypomyelinating leukodystrophy-7 AR
POLR3B 614366 hypomyelinating leukodystrophy-8 AR
PPT1 600722 neuronal ceroid lipofuscinosis type 1 AR
PRICKLE1 608500 Epilepsy, progressive myoclonic 1B AR
PRODH 606810 Hyperprolinemia, type I; susceptibility to Schizophrenia, 4 AD, AR
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
PSEN1 104311 Pick disease; Dementia, frontotemporal; early-onset familial Alzheimer disease-3; dilated cardiomyopathy-1U; Acne inversa, familial, 3 AD
PTS 612719 Hyperphenylalaninemia, BH4-deficient, A AR
PURA 600473 mental retardation- 31 AD
PYCR2 616406 hypomyelinating leukodystrophy-10 AR
QARS1 603727 Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy 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
RBFOX1 605104
RELN 600514 lissencephaly 2; familial temporal lobe epilepsy, 7 AD, AR
RFT1 611908 congenital disorder of glycosylation type 1n 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
ROGDI 614574 Kohlschutter-Tonz syndrome 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
SCN1A 182389 generalized epilepsy with febrile seizures plus 2; early infantile epileptic encephalopathy 6; familial hemiplegic migraine-3 AD
SCN1B 600235 generalized epilepsy with febrile seizures plus-1; Brugada syndrome 5; Epileptic encephalopathy, early infantile, 52 AD, AR
SCN2A 182390 benign familial neonatal-infantile seizures type 3; early infantile epileptic encephalopathy 11 AD
SCN3A 182391 Epilepsy, familial focal, with variable foci 4; early infantile epileptic encephalopathy type 62 AD
SCN8A 600702 Cognitive impairment with or without cerebellar ataxia; early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5 AD
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
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
SEC23B 610512 congenital dyserythropoietic anemia 2; Cowden syndrome 7 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
SGCE 604149 myoclonus-dystonia AD
SGSH 605270 mucopolysaccharidosis type IIIA AR
SIK1 605705 Epileptic encephalopathy, early infantile, 30 AD
SLC12A3 600968 Gitelman syndrome AR
SLC12A5 606726 early infantile epileptic encephalopathy type 34; susceptibility to idiopathic generalized epilepsy-14 AD, AR
SLC13A5 608305 early infantile epileptic encephalopathy 25 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
SLC1A2 600300 early infantile epileptic encephalopathy type 41 AD
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
SLC25A22 609302 early infantile epileptic encephalopathy 3 AR
SLC25A3 600370
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
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
SLC6A1 137165 Myoclonic-atonic epilepsy AD
SLC6A8 300036 Cerebral creatine deficiency syndrome type 1 XLR
SLC7A7 603593 Lysinuric protein intolerance AR
SLC9A6 300231 Christianson type of X-linked syndromic mental retardation XLD
SMC1A 300040 Cornelia de Lange syndrome 2 XLD
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
SPTAN1 182810 Epileptic encephalopathy, early infantile, 5 AD
SRD5A3 611715 congenital disorder of glycosylation type 1q; Kahrizi syndrome AR
SSR4 300090 congenital disorder of glycosylation type 1y XLR
ST3GAL3 606494 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; early infantile epileptic encephalopathy, 15 AR
ST3GAL5 604402 Salt and pepper developmental regression syndrome AR
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
STX1B 601485 generalized epilepsy with febrile seizures plus-9 AD
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
SURF1 185620 Leigh syndrome AR, M
SYN1 313440 Epilepsy, X-linked, with variable learning disabilities and behavior disorders XLD, XLR
SYNE1 608441 autosomal recessive spinocerebellar ataxia 8; Emery-Dreifuss muscular dystrophy 4 AD, AR
SYNGAP1 603384 MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 AD
SYNJ1 604297 Parkinson disease 20, early-onset; early infantile epileptic encephalopathy type 53 AR
SZT2 615463 Epileptic encephalopathy, early infantile, 18 AR
TACO1 612958 Mitochondrial complex IV deficiency AR, M
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
TCF4 602272 Pitt-Hopkins syndrome AD
TGFB1 190180 Camurati-Engelmann disease; cystic fibrosis AD, AR
TIMM8A 300356 Mohr-Tranebjaerg syndrome XLR
TINF2 604319 Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 AD
TK2 188250 mitochondrial DNA depletion syndrome 2 AR
TMEM126A 612988 Optic Atrophy 7 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
TRPM6 607009 Hypomagnesemia 1, intestinal AR
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
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
UBE3A 601623 Angelman syndrome AD
UMPS 613891 Orotic aciduria AR
UQCRQ 612080 Mitochondrial complex III deficiency, nuclear type 4 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
WWOX 605131 Esophageal cancer, somatic; autosomal recessive spinocerebellar ataxia 12; early infantile epileptic encephalopathy 28 AR
ZEB2 605802 Mowat-Wilson syndrome AD
ZFYVE26 612012 spastic paraplegia type 15 AR

COMMON SYNDROMES AND DISORDERS COVERED

Aicardi-Goutieres syndrome
Brain iron accumulation syndromes
Congenital glycosylation disease
Dravet syndrome
Early infantile epileptic encephalopathy
Epilepsy
Epilepsy (absence) in childhood
Epilepsy (generalized) with febrile seizures
Epilepsy (partial)
Epileptic encephalopathy
Hypomagnesemia
Leigh syndrome
Leukodystrophy and peroxisome biogenesis disorders
Lysosomal storage disease
Mitochondrial DNA depletion
Mitochondrial encephalomyopathy
Myoclonic epilepsy
Urea cycle disorder

Available downloads for the Epilepsy panel

  • Pediatric Neurology panels - Product sheet

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Intellectual disability panel

Our panel includes genes associated with intellectual disabilities covering all mechanisms of inheritance as well as syndromic and non-syndromic autism, microcephaly, neuronal migration disorders, developmental regression, and Aicardi Goutierres. Detection of Fragile X syndrome is possible as our panel includes repeat expansion of FMR1.

No. of genes:599
TAT:25 days
Coverage:≥99.5% ≥20x
Details:CNV analysis included
Repeat expansion analysis: FMR1

Gene OMIM (Gene) Associated diseases (OMIM) Inheritance
ABAT 137150 GABA-transaminase deficiency AR
ABCD1 300371 adrenoleukodystrophy XLR
ACE 106180 Renal tubular dysgenesis; Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to AR
ACSL4 300157 mental retardation 63 XLD
ACTB 102630 Baraitser-Winter syndrome 1; Dystonia, juvenile-onset AD
ACTG1 102560 Deafness, Autosomal Dominant 20; Baraitser-Winter syndrome 2 AD
ACTN4 604638 Glomerulosclerosis, focal segmental, 1 AD
ADA 608958 Adenosine deaminase deficiency AR
ADAR 146920 Dyschromatosis symmetrica hereditaria; Aicardi-Goutieres syndrome type 6 AD, AR
ADCY5 600293 Dyskinesia, familial, with facial myokymia AD
ADGRG1 604110 bilateral frontoparietal polymicrogyria; bilateral perisylvian polymicrogyria AR
ADK 102750 Hypermethioninemia due to adenosine kinase deficiency AR
ADNP 611386 Helsmoortel-van der Aa syndrome AD
ADSL 608222 Adenylosuccinase deficiency AR
AFF2 300806 Mental Retardation, X-Linked, Associated With Fragile Site Fraxe XLR
AHI1 608894 Joubert syndrome 3 AR
AIMP1 603605 hypomyelinating leukodystrophy-3 AR
AKAP9 604001 long QT syndrome 11 AD
AKT3 611223 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 AD
ALDH18A1 138250 Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR
ALDH5A1 610045 Succinic semialdehyde dehydrogenase deficiency AR
ALDH7A1 107323 pyridoxine-dependent epilepsy AR
ALG11 613666 congenital disorder of glycosylation type 1p AR
ALG13 300776 congenital disorder of glycosylation type 1s XLD
ALX4 605420 Parietal foramina 2; Frontonasal dysplasia 2 AD, AR
AMPD1 102770 Myopathy due to myoadenylate deaminase deficiency AR
AMPD2 102771 pontocerebellar hypoplasia 9 AR
AMT 238310 glycine encephalopathy AR
ANK2 106410 long QT syndrome-4 AD
ANK3 600465 autosomal recessive mental retardation type 37 AR
ANKRD11 611192 KBG syndrome AD
AP1S1 603531 MEDNIK syndrome AR
AP1S2 300629 Pettigrew syndrome XLR
AP3B1 603401 Hermansky-Pudlak syndrome type 2 AR
AP4B1 607245 spastic paraplegia 47 AR
AP4M1 602296 autosomal recessive spastic paraplegia type 50 AR
ARFGEF2 605371 Periventricular heterotopia with microcephaly AR
ARHGEF10 608136 slowed nerve conduction velocity AD
ARHGEF6 300267
ARHGEF9 300429 Epileptic encephalopathy, early infantile, 8 XLR
ARID1A 603024 Coffin-Siris syndrome type 2 AD
ARID1B 614556 Coffin-Siris syndrome 1 AD
ARL13B 608922 Joubert syndrome 8 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
ASCL1 100790 congenital central hypoventilation syndrome AD
ASPM 605481 primary microcephaly 5 AR
ASXL1 612990 Bohring-Opitz syndrome; Myelodysplastic syndrome, somatic AD
ASXL3 615115 Bainbridge-Ropers syndrome AD
ATP13A2 610513 Kufor-Rakeb syndrome; spastic paraplegia type 78 AR
ATP1A3 182350 Dystonia 12; Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; Alternating hemiplegia of childhood 2 AD
ATP6AP2 300556 syndromic mental retardation, Hedera type XLR
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
ATP8A2 605870 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 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
AUTS2 607270 mental retardation- 26 AD
B3GALNT2 610194 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11 AR
B4GAT1 605517 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A13 AR
B9D1 614144 Meckel Syndrome, Type 9 AR
B9D2 611951 Meckel syndrome 10 AR
BBS4 600374 Bardet-Biedl syndrome 4 AR
BCAP31 300398 Deafness, dystonia, and cerebral hypomyelination; ddch contiguous abcd1/dxs1375e deletion syndrome, included; cadds, included XLR
BCKDK 614901 BCKDK deficiency
BCOR 300485 Microphthalmia, syndromic 2 XLD
BCS1L 603647 Mitochondrial complex III deficiency, nuclear type 1; Leigh syndrome; Bjornstad syndrome; GRACILE syndrome AR, M
BDNF 113505
BLOC1S3 609762 Hermansky-Pudlak syndrome 8 AR
BLOC1S6 604310 Hermansky-pudlak syndrome 9 AR
BRAF 164757 Cardiofaciocutaneous Syndrome 1; Lung Cancer; Noonan syndrome 7; LEOPARD syndrome 3 AD
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
BRWD3 300553 mental retardation 93 XLR
C12orf57 615140 Temtamy syndrome AR
C12orf65 613541 Combined oxidative phosphorylation deficiency 7 AR
C19orf12 614297 neurodegeneration with brain iron accumulation 4; spastic paraplegia 43 AD, AR
CA2 611492 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis AR
CA8 114815 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 AR
CACNA1A 601011 episodic ataxia type 2; familial hemiplegic migraine 1; spinocerebellar ataxia 6; early infantile epileptic encephalopathy, 42 AD
CACNA1C 114205 Timothy syndrome; Brugada syndrome 3; Long QT syndrome 8 AD
CACNA1D 114206 Sinoatrial node dysfunction and deafness; Primary aldosteronism, seizures, and neurologic abnormalities AD, AR
CACNA1F 300110 Night blindness, congenital stationary (incomplete), 2A, X-linked; Cone-rod dystropy, X-linked, 3; Aland Island eye disease XL, XLR
CACNA1H 607904 childhood absence epilepsy type 6 AD
CACNB2 600003 Brugada syndrome 4
CAMTA1 611501 Cerebellar ataxia, nonprogressive, with mental retardation AD
CARD11 607210 Immunodeficiency 11B with atopic dermatitis AD, AR
CASK 300172 Fg Syndrome 4; Mental retardation and microcephaly with pontine and cerebellar hypoplasia XLD
CBS 613381 homocystinuria with or without response to pyridoxine AR
CC2D1A 610055 mental retardation 3 AR
CC2D2A 612013 COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 AR
CCDC40 613799 Ciliary dyskinesia, primary, 15
CCDC88C 611204 Hydrocephalus, nonsyndromic, autosomal recessive 1; spinocerebellar ataxia type 40 AD, AR
CDH15 114019 autosomal dominant mental retardation, 3
CDK5RAP2 608201 primary microcephaly 3 AR
CDKL5 300203 early infantile epileptic encephalopathy 2 XLD
CDON 608707 Holoprosencephaly 11 AD
CENPF 600236 Stromme syndrome AR
CENPJ 609279 primary microcephaly 6; Seckel syndrome 4 AR
CEP135 611423 primary microcephaly 8 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
CEP41 610523 Joubert syndrome 15 AR
CEP63 614724 Seckel syndrome 6 AR
CHD2 602119 childhood-onset epileptic encephalopathy AD
CHD7 608892 CHARGE syndrome; hypogonadotropic hypogonadism-5 with or without anosmia AD
CHD8 610528 Autism, susceptibility to, 18 AD
CHMP1A 164010 pontocerebellar hypoplasia 8 AR
CHRM3 118494 Prune belly syndrome AR
CIB2 605564 deafness type 48; Usher syndrome type 1J AR
CLCN4 302910 MENTAL RETARDATION, X-LINKED 49 XLD
CLIC2 300138 mental retardation 32 XLR
CLN8 607837 neuronal ceroid lipofuscinosis type 8; neuronal ceroid lipofuscinosistype 8, Northern epilepsy variant AR
CNGB3 605080 Achromatopsia type 3 AR
CNTNAP2 604569 Pitt-Hopkins like syndrome 1; Autism susceptibility 15 AR
COASY 609855 Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia type 12 AR
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
CPLANE1 614571 oral-facial-digital syndrome 6; Joubert syndrome 17 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
CRADD 603454 Mental retardation, autosomal recessive 34, with variant lissencephaly AR
CRBN 609262 mental retardation 2 AR
CREBBP 600140 Rubinstein-Taybi syndrome 1 AD
CRIPT 604594 Short stature with microcephaly and distinctive facies AR
CRPPA 614631 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C7 AR
CSPP1 611654 Joubert syndrome 21 AR
CTC1 613129 Cerebroretinal microangiopathy with calcifications and cysts AR
CTNNA3 607667 familial arrhythmogenic right ventricular dysplasia type 13 AD
CTNNB1 116806 colorectal cancer; Hepatocellular Carcinoma; Medulloblastoma; Ovarian Cancer; neurodevelopmental disorder with spastic diplegia and visual defects AD
CUL3 603136 Pseudohypoaldosteronism, type IIE AD
CUL4B 300304 MENTAL RETARDATION, X-LINKED 15 XLR
CUL7 609577 3-M syndrome AR
CYB5R3 613213 methemoglobinemia type I AR
CYP11B1 610613 Glucocorticoid-Remediable Aldosteronism; Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency AD, AR
CYP27A1 606530 cerebrotendinous xanthomatosis AR
DARS2 610956 leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation AR
DCAF17 612515 Woodhouse-Sakati syndrome AR
DCX 300121 type 1 lissencephaly XL
DDC 107930 Aromatic L-amino acid decarboxylase deficiency AR
DDX3X 300160 mental retardation 102 XLD, XLR
DHCR7 602858 Smith-Lemli-Opitz syndrome AR
DKC1 300126 X-linked dyskeratosis congenita XLR
DLG3 300189 mental retardation 90 XLR
DNM1 602377 early infantile epileptic encephalopathy, 31 AD
DOCK8 611432 Hyper-IgE recurrent infection syndrome, autosomal recessive AR
DPYD 612779 Dihydropyrimidine dehydrogenase deficiency AR
DRD3 126451 schizophrenia AD
DST 113810 Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 AR
DTNBP1 607145 Hermansky-Pudlak syndrome 7 AR
DYM 607461 Dyggve-Melchior-Clausen disease AR
DYNC1H1 600112 lower extremity-predominant spinal muscular atrophy type 1; type 2O Charcot-Marie-Tooth disease; mental retardation-13 AD
DYRK1A 600855 MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 AD
EDN3 131242 congenital central hypoventilation syndrome; Waardenburg syndrome type 4B; Hirschsprung disease 4 AD, AR
EDNRB 131244 Waardenburg syndrome type 4A; Hirschsprung disease, susceptibility to, 2; ABCD syndrome AD, AR
EEF1A2 602959 MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; early infantile epileptic encephalopathy type 33 AD
EFTUD2 603892 Mandibulofacial dysostosis, Guion-Almeida type AD
EHMT1 607001 Kleefstra syndrome AD
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
EIF4E 133440
ELOVL4 605512 Spinocerebellar ataxia 34; Stargardt disease 3; Ichthyosis, spastic quadriplegia, and mental retardation AD, AR
EMX2 600035 Schizencephaly
EP300 602700 colorectal cancer; Rubinstein-Taybi syndrome 2 AD
EPB41L1 602879 mental retardation-11 AD
ESRRB 602167 deafness type 35 AR
ETFB 130410 multiple acyl-CoA dehydrogenase deficiency AR
EXOSC3 606489 pontocerebellar hypoplasia type 1B AR
FAM126A 610531 hypomyelinating leukodystrophy-5 AR
FANCB 300515 Fanconi anemia of complementation group B XLR
FBN1 134797 Marfan syndrome; stiff skin syndrome; Weill-Marchesani syndrome 2; geleophysic dysplasia 2; Marfan lipodystrophy syndrome AD
FGA 134820 Amyloidosis, familial visceral; Afibrinogenemia, congenital; Dysfibrinogenemia, congenital AD, AR
FGD1 300546 Aarskog-Scott syndrome XLR
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
FH 136850 Leiomyomatosis and renal cell cancer; Fumarase deficiency AD, 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
FLNA 300017 Congenital short bowel syndrome; Heterotopia, periventricular / X-linked periventricular heterotopia; Terminal osseous dysplasia; FG syndrome 2; Otopalatodigital syndrome, type II; Frontometaphyseal dysplasia; Melnick-Needles syndrome; otopalatodigital syndrome type I; Cardiac valvular dysplasia, X-linked XL, XLD, XLR
FLVCR1 609144 Ataxia, posterior column, with retinitis pigmentosa AR
FMR1 309550 fragile X tremor/ataxia syndrome; fragile X mental retardation syndrome; premature ovarian failure type 1 XL, XLD
FOLR1 136430 cerebral folate transport deficiency AR
FOXC1 601090 Iridogoniodysgenesis, type 1; Axenfeld-Rieger syndrome, type 3 AD
FOXG1 164874 Rett syndrome, congenital variant AD
FOXL2 605597 Blepharophimosis, epicanthus inversus, and ptosis AD, AR
FOXP1 605515 Mental retardation with language impairment and with or without autistic features AD
FOXP2 605317 Speech-Language Disorder 1 AD
FTL 134790 Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3 AD, AR
FTO 610966 Growth retardation, developmental delay, facial dysmorphism AR
FTSJ1 300499 MENTAL RETARDATION, X-LINKED 9 XLR
G6PD 305900 glucose-6-phosphate dehydrogenase deficiency; resistance to malaria XLD
GABRB3 137192 Epilepsy, Childhood Absence, Susceptibility To, 5 AD
GAD1 605363 Cerebral palsy, spastic quadriplegic, 1 AR
GAMT 601240 guanidinoacetate methyltransferase deficiency AR
GATM 602360 Cerebral creatine deficiency syndrome 3 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
GDI1 300104 mental retardation 41 XLD
GDNF 600837 pheochromocytoma; congenital central hypoventilation syndrome; Hirschsprung Disease, Susceptibility To, 3 AD
GFAP 137780 Alexander disease AD
GIGYF2 612003 PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
GJC2 608803 Leukodystrophy, hypomyelinating, 2; spastic paraplegia 44 AD, AR
GK 300474 Glycerol kinase deficiency XLR
GLI2 165230 holoprosencephaly 9; Culler-Jones syndrome AD
GLRB 138492 Hyperekplexia 2, autosomal recessive AR
GMPPA 615495 Alacrima, achalasia, and mental retardation syndrome 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
GNAO1 139311 early infantile epileptic encephalopathy 17; neurodevelopmental disorder with involuntary movements AD
GNAS 139320 Pseudohypoparathyroidism Ia; Osseous heteroplasia, progressive; McCune-Albright syndrome, somatic, mosaic; ACTH-independent macronodular adrenal hyperplasia; Pseudohypoparathyroidism type Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism AD
GPC3 300037 Wilms tumor, type 1; Simpson-Golabi-Behmel syndrome, type 1 XLR
GPHN 603930 Molybdenum cofactor deficiency, complementation group c AR
GPT2 138210 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 AR
GPX1 138320 Hemolytic anemia due to glutathione peroxidase deficiency AR
GRIA3 305915 syndromic mental retardation, Wu type XLR
GRID2 602368 autosomal recessive spinocerebellar ataxia 18 AR
GRIK2 138244 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 AR
GRIN1 138249 mental retardation- 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures AD, AR
GRIN2A 138253 Epilepsy, focal, with speech disorder and with or without mental retardation AD
GRIN2B 138252 MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; early infantile epileptic encephalopathy 27 AD
GRIP1 604597 AR
HBB 141900 Heinz Body Anemias; Delta-beta thalassemia; dominantly inherited inclusion body beta-thalassemia; sickle cell anemia; resistance to malaria; beta-thalassemia AD, AR
HCCS 300056 Microphthalmia, syndromic 7 XLD
HCFC1 300019 mental retardation 3 XLR
HCN1 602780 early infantile epileptic encephalopathy 24 AD
HDAC4 605314
HDAC8 300269 Cornelia de Lange syndrome 5 XLD
HEPACAM 611642 megalencephalic leukoencephalopathy with subcortical cysts type 2A; megalencephalic leukoencephalopathy with subcortical cysts type 2B, remitting, with or without mental retardation AD, AR
HERC2 605837 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 AR
HNRNPU 602869 Epileptic encephalopathy, early infantile, 54 AD
HOXA1 142955 Bosley-Salih-Alorainy syndrome
HPRT1 308000 Lesch-Nyhan syndrome; Kelley-Seegmiller syndrome XLR
HPS1 604982 Hermansky-Pudlak syndrome type 1 AR
HPS4 606682 Hermansky-Pudlak syndrome type 4 AR
HPS5 607521 Hermansky-Pudlak syndrome type 5 AR
HPS6 607522 Hermansky-Pudlak syndrome type 6 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
HSPD1 118190 spastic paraplegia 13; hypomyelinating leukodystrophy-4 AD, AR
HUWE1 300697 syndromic mental retardation, Turner type XL
HYDIN 610812 primary ciliary dyskinesia type 5 AR
IDS 300823 mucopolysaccharidosis type II XLR
IER3IP1 609382 Microcephaly, epilepsy, and diabetes syndrome AR
IFIH1 606951 Singleton-Merten syndrome type 1; Aicardi-Goutieres syndrome 7 AD
IGBP1 300139 mental retardation 28 XLR
IGF1 147440 Insulin-Like Growth Factor I Deficiency AR
IGF1R 147370 Insulin-like growth factor I, resistance to AD, AR
IL1RAPL1 300206 mental retardation 21 XLR
INPP5E 613037 Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis AR
INVS 243305 nephronophthisis 2 AR
IQSEC2 300522 MENTAL RETARDATION, X-LINKED 1 XLD
IRX5 606195 Hamamy syndrome 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
ITPR1 147265 spinocerebellar ataxia 29; Gillespie syndrome; spinocerebellar ataxia 15 AD, AR
JAG1 601920 Alagille syndrome; Tetralogy of Fallot AD
KANK1 607704 Cerebral palsy, spastic quadriplegic, 2
KAT6A 601408 mental retardation- 32 AD
KAT6B 605880 Ohdo syndrome, SBBYS variant; Genitopatellar syndrome AD
KATNB1 602703 lissencephaly 6 AR
KCNB1 600397 early infantile epileptic encephalopathy 26 AD
KCNC1 176258 Progressive myoclonic epilepsy 7 AD
KCNC3 176264 spinocerebellar ataxia 13 AD
KCND3 605411 spinocerebellar ataxia 19 AD
KCNJ10 602208 autosomal recessive deafness type 4 with enlarged vestibular aqueduct; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance AR
KCNK9 605874
KCNMA1 600150 Generalized epilepsy and paroxysmal dyskinesia; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16 AD, AR
KCNQ2 602235 benign familial neonatal epilepsy; early-onset epileptic encephalopathy 7 AD
KCNQ3 602232 Seizures, Benign Familial Neonatal, 2 AD
KDM5C 314690 syndromic mental retardation - Claes-Jensen type XLR
KDM6A 300128 Kabuki syndrome 2 XLD
KIF11 148760 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation AD
KIF1A 601255 spastic paraplegia 30; Neuropathy, hereditary sensory, type IIC; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 AD, AR
KIF5C 604593 Cortical dysplasia, complex, with other brain malformations 2 AD
KIF7 611254 Acrocallosal syndrome; Joubert syndrome 12; Hydrolethalus syndrome 2 AR
KIRREL3 607761
KMT2A 159555 Wiedemann-Steiner syndrome AD
KMT2C 606833 Kleefstra syndrome type 2 AD
KMT2D 602113 Kabuki syndrome 1 AD
KNL1 609173 primary microcephaly 4 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
L1CAM 308840 spastic paraplegia type 1; partial agenesis of the corpus callosum; hydrocephalus with stenosis of the aqueduct of Sylvius XLR
LAMA1 150320 Poretti-Boltshauser syndrome AR
LAMA2 156225 congenital muscular dystrophy type 1A; limb-girdle Muscular dystrophy type 23 AR
LAMB1 150240 lissencephaly 5 AR
LAMC3 604349 Cortical malformations, occipital 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
LEP 164160 Leptin deficiency AR
LINS1 610350 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 AR
LMX1B 602575 Nail-patella syndrome AD
LRBA 606453 Immunodeficiency, common variable, 8, with autoimmunity AR
LRP2 600073 Donnai-Barrow syndrome AR
LZTR1 600574 Noonan syndrome type 2; SCHWANNOMATOSIS 2; Noonan syndrome 10 AD, AR
MAGEL2 605283 Schaaf-Yang syndrome AD
MAGT1 300715 Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia XLR
MAN1B1 604346 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 AR
MAOA 309850 Brunner syndrome XLR
MBD5 611472 mental retardation-1 AD
MBTPS2 300294 IFAP syndrome with or without BRESHECK syndrome; Keratosis follicularis spinulosa decalvans, X-linked XLR
MCCC2 609014 3-methylcrotonyl-CoA carboxylase 2 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
MED13L 608771 Mental retardation and distinctive facial features with or without cardiac defects AD
MED17 603810 postnatal progressive microcephaly, seizures, and brain atrophy AR
MED23 605042 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 AR
MEF2C 600662 mental retardation- 20 AD
MEGF10 612453 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset AR
MEIS2 601740 Cleft palate, cardiac defects, and mental retardation AD
MET 164860 Hepatocellular Carcinoma; Renal cell carcinoma, papillary; deafness type 97 AD, AR
MFRP 606227 Nanophthalmos 2; isolated microphthalmia 5 AR
MFSD2A 614397 Microcephaly 15, primary, autosomal recessive AR
MGAT2 602616 Congenital disorder of glycosylation, type IIa AR
MIB1 608677 Left ventricular noncompaction 7 AD
MID1 300552 Opitz GBBB syndrome, X-linked XLR
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
MKS1 609883 Meckel syndrome type 1; Bardet-Biedl syndrome type 13; Joubert syndrome type 28 AR
MLC1 605908 megalencephalic leukoencephalopathy with subcortical cysts type 1 AR
MPDZ 603785 Hydrocephalus, nonsyndromic, autosomal recessive 2 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
MTOR 601231 Smith-Kingsmore syndrome AD
MTR 156570 homocystinuria-megaloblastic anemia, cblG complementation type; folate-sensitive neural tube defects AR
MYCN 164840 Feingold syndrome AD
MYO5A 160777 Griscelli syndrome, type 1 AR
NAA10 300013 Ogden syndrome; Microphthalmia, syndromic 1 XL, XLD, XLR
NAGA 104170 Schindler disease, type I, III AR
NALCN 611549 Hypotonia, infantile, with psychomotor retardation and characteristic facies; Congenital contractures of the limbs and face, hypotonia, and developmental delay AD, AR
NDE1 609449 lissencephaly 4 AR
NDP 300658 Exudative Vitreoretinopathy 2, X-Linked; Norrie disease XLD, XLR
NDST1 600853 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 AR
NDUFA1 300078 XLR
NECTIN1 600644 Cleft lip/palate ectodermal dysplasia syndrome AR
NEXMIF 300524 mental retardation 98 XLD
NF1 613113 neurofibromatosis type 1; Neurofibromatosis-Noonan syndrome; Leukemia, juvenile myelomonocytic AD
NFIX 164005 Marshall-Smith syndrome; Sotos syndrome 2 AD
NHEJ1 611290 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
NHS 300457 Nance-Horan syndrome XL, XLD
NIPA1 608145 spastic paraplegia type 6 AD
NIPBL 608667 Cornelia de Lange syndrome 1 AD
NLGN3 300336 Autism, Susceptibility To, X-Linked 1; Asperger Syndrome, X-Linked, Susceptibility To, 1 XL
NLGN4X 300427 Autism, Susceptibility To, X-Linked 2; Asperger Syndrome, X-Linked, Susceptibility To, 2 XL
NOTCH2 600275 Hajdu-Cheney syndrome; Alagille syndrome 2 AD
NPHP1 607100 nephronophthisis 1; Joubert syndrome 4 AR
NPHP3 608002 Renal-hepatic-pancreatic dysplasia 1; Meckel syndrome 7; nephronophthisis 3 AR
NR2F1 132890 Bosch-Boonstra-Schaaf optic atrophy syndrome AD
NR3C2 600983 Pseudohypoaldosteronism type I, autosomal dominant AD
NRXN1 600565 Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome AR
NSD1 606681 Sotos syndrome 1 AD
NSDHL 300275 CK syndrome; CHILD syndrome XLD, XLR
NSUN2 610916 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 AR
NTRK1 191315 hereditary sensory and autonomic neuropathy type 4 AR
NXF5 300319
OCLN 602876 Band-like calcification with simplified gyration and polymicrogyria AR
OCRL 300535 Dent disease type 2; Lowe oculocerebrorenal syndrome XLR
OFD1 300170 Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1 XLD, XLR
OPHN1 300127 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance XLR
ORC1 601902 Meier-gorlin syndrome 1 AR
OTC 300461 ornithine transcarbamylase deficiency XLR
PAFAH1B1 601545 lissencephaly type 1 AD
PAH 612349 phenylketonuria AR
PAK3 300142 mental retardation 30 XLR
PANK2 606157 neurodegeneration with brain iron accumulation type 1; HARP syndrome AR
PAX3 606597 Waardenburg syndrome, type 3; Waardenburg syndrome type 1 AD, AR
PAX6 607108 Aniridia 1; foveal hypoplasia type 1 AD
PCDH15 605514 Usher syndrome type 1D; Usher syndrome type 1F; deafness type 23 AR, DiR
PCDH19 300460 early infantile epileptic encephalopathy type 9 XL
PCNT 605925 microcephalic osteodysplastic primordial dwarfism type 2 AR
PDE6D 602676 Joubert syndrome 22 AR
PDHA1 300502 Pyruvate dehydrogenase E1-alpha deficiency XLD
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
PGAP1 611655 mental retardation 42 AR
PGK1 311800 Phosphoglycerate kinase 1 deficiency XLR
PHC1 602978 primary microcephaly 11 AR
PHF6 300414 Borjeson-Forssman-Lehmann syndrome XLR
PHF8 300560 syndromic mental retardation, Siderius type XLR
PIGA 311770 Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2 XLR
PIGL 605947 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome AR
PIGN 606097 Multiple congenital anomalies-hypotonia-seizures syndrome type 1 AR
PIGO 614730 Hyperphosphatasia with mental retardation syndrome 2 AR
PIGV 610274 Hyperphosphatasia with mental retardation syndrome type 1 AR
PIK3R2 603157 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome AD
PITX2 601542 Axenfeld-Rieger syndrome, type 1 AD
PLA2G6 603604 infantile neuroaxonal dystrophy; neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 AR
PLCB1 607120 early infantile epileptic encephalopathy 12 AR
PLK4 605031 autosomal recessive microcephaly and chorioretinopathy, 2 AR
PLN 172405 dilated cardiomyopathy-1P; Cardiomyopathy, familial hypertrophic, 18 AD
PLP1 300401 Pelizaeus-Merzbacher disease; spastic paraplegia 2 XLR
PNKP 605610 type 2B2 Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 10 AR
POGZ 614787 White-Sutton syndrome AD
POLR3A 614258 hypomyelinating leukodystrophy-7 AR
POLR3B 614366 hypomyelinating leukodystrophy-8 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
PORCN 300651 Focal dermal hypoplasia XLD
POT1 606478 Melanoma, cutaneous malignant, susceptibility to, 10 AD
PPOX 600923 variegate porphyria AD
PPT1 600722 neuronal ceroid lipofuscinosis type 1 AR
PQBP1 300463 Renpenning Syndrome 1 XLR
PRICKLE1 608500 Epilepsy, progressive myoclonic 1B AR
PRKN 602544 Ovarian Cancer; Lung Cancer; Parkinson disease 2 AR
PRODH 606810 Hyperprolinemia, type I; susceptibility to Schizophrenia, 4 AD, AR
PRPS1 311850 Phosphoribosylpyrophosphate synthetase superactivity; Arts syndrome; deafness type 1; type X5 Charcot-Marie-Tooth XL, XLR
PRSS12 606709 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 AR
PTCH1 601309 Gorlin syndrome; Holoprosencephaly-7 AD
PTEN 601728 Cowden syndrome 1; Cowden syndrome type 2; Bannayan-Riley-Ruvalcaba syndrome; Prostate Cancer; Macrocephaly/autism syndrome; Meningioma, familial, susceptibility to AD
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
PTS 612719 Hyperphenylalaninemia, BH4-deficient, A AR
PURA 600473 mental retardation- 31 AD
PYCR1 179035 autosomal recessive cutis laxa type 2B AR
PYCR2 616406 hypomyelinating leukodystrophy-10 AR
QARS1 603727 Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy AR
RAB18 602207 Warburg micro syndrome 3 AR
RAB39B 300774 mental retardation 72 XLR
RAB3GAP1 602536 Warburg micro syndrome 1 AR
RAB3GAP2 609275 Martsolf syndrome; Warburg micro syndrome 2 AR
RAD21 606462 Cornelia de Lange syndrome type 4 AD, AR
RAI1 607642 Smith-Magenis syndrome AD
RARS2 611524 pontocerebellar hypoplasia type 6 AR
RBBP8 604124 Jawad syndrome / Microcephaly with mental retardation and digital anomalies; Seckel syndrome 2 AR
RBFOX1 605104
RBM10 300080 TARP syndrome XLR
RELN 600514 lissencephaly 2; familial temporal lobe epilepsy, 7 AD, AR
RET 164761 Hirschsprung disease; familial medullary thyroid carcinoma; multiple endocrine neoplasia 2B; pheochromocytoma; multiple endocrine neoplasia 2A; congenital central hypoventilation syndrome AD
RIMS1 606629 Cone-rod dystrophy 7
RNASEH2A 606034 Aicardi-Goutieres syndrome type 4 AR
RNASEH2B 610326 Aicardi-Goutieres syndrome type 2 AR
RNASEH2C 610330 Aicardi-Goutieres syndrome 3 AR
ROGDI 614574 Kohlschutter-Tonz syndrome AR
ROR2 602337 Brachydactyly, type B1; Robinow syndrome, autosomal recessive AD, AR
RPGRIP1L 610937 COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 AR
RPL10 312173 Autism, susceptibility to, X-linked 5 XLR
RPS6KA3 300075 MENTAL RETARDATION, X-LINKED 19; Coffin-Lowry syndrome XLD
RXYLT1 605862 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A10 AR
SALL1 602218 Townes-Brocks syndrome AD
SAMHD1 606754 Aicardi-Goutieres syndrome type 5; Chilblain lupus type 2 AD, AR
SASS6 609321 autosomal recessive primary microcephaly, 14 AR
SATB2 608148 SATB2-associated syndrome (SAS) :Glass syndrome AD
SBF1 603560 type 4B3 Charcot-Marie-Tooth disease 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
SCN8A 600702 Cognitive impairment with or without cerebellar ataxia; early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5 AD
SCN9A 603415 primary erythermalgia; Paroxysmal extreme pain disorder; INDIFFERENCE TO PAIN, CONGENITAL; generalized epilepsy with febrile seizures plus 7 AD, AR
SCO2 604272 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6 AD, AR
SDCCAG8 613524 Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 AR
SDHA 600857 mitochondrial complex II deficiency; Leigh syndrome; dilated cardiomyopathy-1GG; paragangliomas type 5 AD, AR, M
SEPSECS 613009 pontocerebellar hypoplasia type 2D AR
SETBP1 611060 Schinzel-giedion midface retraction syndrome; mental retardation type 29 AD
SETD2 612778 Luscan-Lumish syndrome AD
SGCA 600119 limb-girdle Muscular dystrophy type 3 AR
SHANK2 603290 Autism susceptibility 17
SHH 600725 Holoprosencephaly 3; Solitary Median Maxillary Central Incisor; Schizencephaly; Microphthalmia, Isolated, With Coloboma 5 AD
SHROOM4 300579 Stocco dos Santos X-linked mental retardation syndrome XL
SIL1 608005 Marinesco-Sjogren syndrome AR
SIX3 603714 Holoprosencephaly 2; Schizencephaly AD
SLC12A5 606726 early infantile epileptic encephalopathy type 34; susceptibility to idiopathic generalized epilepsy-14 AD, AR
SLC16A2 300095 Allan-Herndon-Dudley syndrome XL
SLC25A12 603667 Epileptic encephalopathy, early infantile, 39 AR
SLC25A15 603861 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome AR
SLC25A19 606521 Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) AR
SLC27A4 604194 Ichthyosis prematurity syndrome
SLC2A1 138140 Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility to, 12 AD, AR
SLC35A2 314375 congenital disorder of glycosylation type 2m XLD
SLC35A3 605632 ?Arthrogryposis, mental retardation, and seizures AR
SLC4A4 603345 Renal tubular acidosis, proximal, with ocular abnormalities AR
SLC6A1 137165 Myoclonic-atonic epilepsy AD
SLC6A3 126455 Tobacco Addiction, Susceptibility To; Parkinsonism-dystonia, infantile AR
SLC6A8 300036 Cerebral creatine deficiency syndrome type 1 XLR
SLC7A7 603593 Lysinuric protein intolerance AR
SLC9A6 300231 Christianson type of X-linked syndromic mental retardation XLD
SLC9A9 608396 susceptibility to autism type 16
SLCO1B3 605495 Hyperbilirubinemia, Rotor type, digenic DiR
SMAD4 600993 Myhre syndrome; Juvenile polyposis syndrome, infantile form; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Pancreatic Cancer AD
SMARCA2 600014 Nicolaides-Baraitser syndrome AD
SMARCA4 603254 Rhabdoid tumor predisposition syndrome 2; mental retardation-16 AD
SMARCB1 601607 Schwannomatosis; Rhabdoid tumors, somatic; Coffin-Siris syndrome 3 AD
SMARCE1 603111 Meningioma, familial, susceptibility to AD
SMC1A 300040 Cornelia de Lange syndrome 2 XLD
SMC3 606062 Cornelia de Lange syndrome 3 AD
SMPD1 607608 Niemann-Pick disease type A; Niemann-Pick disease type A/B AR
SMS 300105 Snyder-Robinson mental retardation syndrome XLR
SNAI2 602150 Piebaldism; Waardenburg syndrome type 2d AD, AR
SNAP29 604202 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome AR
SNIP1 608241 AR
SOBP 613667 AR
SOD1 147450 amyotrophic lateral sclerosis 1 AD, AR
SOX10 602229 PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome, type 4C AD
SOX2 184429 Microphthalmia, Syndromic 3 AD
SOX3 313430 Mental Retardation, X-Linked, With Panhypopituitarism; Panhypopituitarism, X-linked XL
SPAST 604277 spastic paraplegia-4 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
STAMBP 606247 Microcephaly-capillary malformation syndrome AR
STIL 181590 primary microcephaly 7 AR
STRA6 610745 Microphthalmia, isolated, with coloboma 8 AR
STXBP1 602926 early infantile epileptic encephalopathy 4 AD
SYN1 313440 Epilepsy, X-linked, with variable learning disabilities and behavior disorders XLD, XLR
SYNE1 608441 autosomal recessive spinocerebellar ataxia 8; Emery-Dreifuss muscular dystrophy 4 AD, AR
SYNGAP1 603384 MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 AD
SYNJ1 604297 Parkinson disease 20, early-onset; early infantile epileptic encephalopathy type 53 AR
SYP 313475 mental retardation 96 XLR
TAF2 604912 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 AR
TAF6 602955 Alazami-Yuan syndrome AR
TBC1D20 611663 Warburg micro syndrome 4 AR
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
TBL1XR1 608628 Pierpont syndrome; Mental retardation, autosomal dominant 41 AD
TBX1 602054 Tetralogy of Fallot; DiGeorge syndrome; Velocardiofacial syndrome; Conotruncal Heart Malformations AD
TCF4 602272 Pitt-Hopkins syndrome AD
TCTN1 609863 Joubert syndrome 13 AR
TCTN2 613846 Meckel syndrome 8; Joubert syndrome type 24 AR
TCTN3 613847 oral-facial-digital syndrome 4; Joubert syndrome 18 AR
TECR 610057 mental retardation 14 AR
TECTA 602574 Deafness, autosomal dominant 8/12; deafness type 21 AD, AR
TFAP2A 107580 Branchiooculofacial syndrome AD
TGIF1 602630 Holoprosencephaly-4 AD
THRA 190120 Hypothyroidism, congenital, nongoitrous, 6 AD
TIMM8A 300356 Mohr-Tranebjaerg syndrome XLR
TINF2 604319 Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 AD
TMCO1 614123 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome AR
TMEM138 614459 Joubert syndrome 16 AR
TMEM216 613277 Meckel Syndrome type 2; Joubert syndrome type 2 AR
TMEM231 614949 Joubert syndrome 20; Meckel syndrome, type 11 AR
TMEM237 614423 Joubert syndrome 14 AR
TMEM67 609884 COACH syndrome; Meckel Syndrome, Type 3; Joubert syndrome 6; nephronophthisis 11; Bardet-Biedl syndrome type 14 AR
TMLHE 300777 susceptibility to autism type 6 XLR
TPO 606765 Thyroid dyshormonogenesis 2A AR
TRAPPC9 611966 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 AR
TREX1 606609 systemic lupus erythematosus; retinal vasculopathy with cerebral leukodystrophy; Aicardi-Goutieres syndrome type 1; chilblain lupus type 1 AD, AR
TRMT10A 616013 Microcephaly, short stature, and impaired glucose metabolism 1 AR
TRPC6 603652 Glomerulosclerosis, focal segmental, 2 AD
TSC1 605284 tuberous sclerosis type 1 AD
TSC2 191092 tuberous sclerosis-2 AD
TSEN2 608753 pontocerebellar hypoplasia type 2B AR
TSEN34 608754 pontocerebellar hypoplasia type 2C AR
TSEN54 608755 pontocerebellar hypoplasia type 4; pontocerebellar hypoplasia type 2A; pontocerebellar hypoplasia type 5 AR
TSPAN7 300096 mental retardation 58 XLR
TTC21B 612014 Short-rib thoracic dysplasia 4 with or without polydactyly; nephronophthisis 12 AD, AR
TTI2 614426 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 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
TUBA1A 602529 lissencephaly 3 AD
TUBA8 605742 Polymicrogyria with optic nerve hypoplasia AR
TUBB2B 612850 Polymicrogyria, symmetric or asymmetric AD
TUBB3 602661 Fibrosis of extraocular muscles, congenital, 3A; Cortical dysplasia, complex, with other brain malformations AD
TUBB4A 602662 dystonia 4; hypomyelinating leukodystrophy-6 AD
TUBGCP4 609610 AR
TUBGCP6 610053 Microcephaly and chorioretinopathy with or without mental retardation AR
TUSC3 601385 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 AR
TYR 606933 Albinism, Ocular, With Sensorineural Deafness; oculocutaneous albinism type 1A; Skin/hair/eye pigmentation 3; Albinism, oculocutaneous, type IB AD, AR
UBE2A 312180 syndromic mental retardation, Nascimento type XLR
UBE3A 601623 Angelman syndrome AD
UBR1 605981 Johanson-Blizzard syndrome AR
UPF3B 300298 mental retardation 14 XLR
USH2A 608400 Usher syndrome type 2A; retinitis pigmentosa type 39 AR
USP9X 300072 mental retardation 99 XLD, XLR
VDR 601769 vitamin D-dependent rickets type 2A AR
VLDLR 192977 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome AR
VPS13B 607817 Cohen syndrome AR
VPS53 615850 pontocerebellar hypoplasia type 2E AR
VRK1 602168 pontocerebellar hypoplasia type 1A AR
WAC 615049 Desanto-Shinawi syndrome AD
WDR45 300526 neurodegeneration with brain iron accumulation 5 XLD
WDR62 613583 primary microcephaly 2 AR
WDR81 614218 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 AR
WNT1 164820 osteogenesis imperfecta type 15; susceptibility to early-onset autosomal dominant osteoporosis AR
WNT5A 164975 Robinow syndrome, autosomal dominant AD
WWOX 605131 Esophageal cancer, somatic; autosomal recessive spinocerebellar ataxia 12; early infantile epileptic encephalopathy 28 AR
YWHAE 605066
ZBTB18 608433 mental retardation- 22 AD
ZDHHC9 300646 syndromic mental retardation, ZDHHC9-related XL
ZEB2 605802 Mowat-Wilson syndrome AD
ZFYVE26 612012 spastic paraplegia type 15 AR
ZIC2 603073 Holoprosencephaly 5 AD
ZIC3 300265 Heterotaxy, visceral, 1, x-linked; Vacterl association, x-linked, with or without hydrocephalus XLR
ZNF335 610827 primary microcephaly 10 AR
ZNF41 314995
ZNF423 604557 nephronophthisis 14; Joubert syndrome 19 AD, AR
ZNF711 314990 mental retardation 97 XL
ZNF81 314998

Common syndromes and disorders covered

Aicardi-Goutieres syndrome
Bardet-Biedl syndrome
Intellectual disability AD, AR, XL
Micro syndrome
Microcephaly
Neuronal migration disorders
Syndromic autism

Available downloads for the Intellectual disability panel

  • Pediatric Neurology panels - Product sheet

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Neuromuscular panel

Our neuromuscular panel is ideal for patients with muscular diseases. It includes genes causing neurological diseases and covers disorders, such as metabolic myopathies, muscular dystrophies, Charcot- Marie-Tooth, congenital myasthenic syndromes, congenital myopathies, myofibrillar myopathies, nemaline myopathies, and other syndromes with hypotonia, myotonia, or weakness. Arthrogryposis is included for differential diagnosis of early-onset neuromuscular disorders. If there is high diagnostic suspicion for Duchenne muscular dystrophy, we recommend that the clinician orders deletion/duplication analysis by MLPA targeted to the DMD gene as an additional service.

No. of genes:276
TAT:25 days
Coverage:≥99.5% ≥20x
Details:CNV analysis included
Repeat Expansion: DMPK

Gene OMIM (Gene) Associated diseases (OMIM) Inheritance
AARS1 601065 type 2N Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 29 AD, AR
ABHD5 604780 Chanarin-Dorfman syndrome AR
ACAD9 611103 Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of AR
ACADM 607008 medium chain acyl-CoA dehydrogenase deficiency AR
ACADVL 609575 very long chain acyl-CoA dehydrogenase deficiency AR
ACTA1 102610 Myopathy, nemaline, 3; Myopathy, congenital, with fiber-type disproportion AD, AR
AGL 610860 glycogen storage disease type III AR
AGRN 103320 congenital myasthenic syndrome type 8, with pre- and postsynaptic defects 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
ALDOA 103850 Glycogen storage disease XII AR
ALG14 612866 AR
ALG2 607905 congenital disorder of glycosylation type 1i AR
AMPD1 102770 Myopathy due to myoadenylate deaminase deficiency AR
ANO5 608662 gnathodiaphyseal dysplasia; limb-girdle muscular dystrophy type 2L AD, AR
ARHGEF10 608136 slowed nerve conduction velocity AD
ARHGEF9 300429 Epileptic encephalopathy, early infantile, 8 XLR
ASAH1 613468 Spinal muscular atrophy with progressive myoclonic epilepsy; Farber lipogranulomatosis AR
ATL1 606439 spastic paraplegia 3A AD
ATP2A1 108730 Brody myopathy AR
ATP7A 300011 X-linked distal spinal muscular atrophy type 3; Occipital horn syndrome; Menkes disease XLR
B3GALNT2 610194 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11 AR
B4GAT1 605517 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A13 AR
BAG3 603883 Myopathy, myofibrillar, 6; dilated cardiomyopathy-1HH AD
BICD2 609797 autosomal dominant lower extremity-predominant spinal muscular atrophy type 2 AD
BIN1 601248 centronuclear myopathy 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
CACNA1S 114208 hypokalemic periodic paralysis 1; Thyrotoxic periodic paralysis Type 1; Malignant hyperthermia susceptibility 5 AD
CAPN3 114240 limb-girdle muscular dystrophy type 1; limb-girdle muscular dystrophy type 4 AD, AR
CASK 300172 Fg Syndrome 4; Mental retardation and microcephaly with pontine and cerebellar hypoplasia XLD
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
CCDC78 614666 Myopathy, centronuclear, 4 AD
CFL2 601443 nemaline myopathy type 7 AR
CHAT 118490 Presynaptic congenital myasthenic syndrome type 6 AR
CHCHD10 615903 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 AD
CHKB 612395 Muscular dystrophy, congenital, megaconial type AR
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
CHRNG 100730 Multiple pterygium syndrome, lethal type; Multiple Pterygium Syndrome, Escobar Variant AR
CHST14 608429 Ehlers-Danlos syndrome musculocontractural type 1 AR
CLCN1 118425 myotonia congenita (Thomsen myotonia); myotonia congenita (Becker myotonia) AD, AR
CNTN1 600016 Myopathy, congenital, Compton-North AR
COL12A1 120320 Ullrich congenital muscular dystrophy 2; Bethlem myopathy 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
COLQ 603033 congenital myasthenic syndrome type 5 AR
COQ2 609825 Multiple system atrophy, susceptibility to; Coenzyme Q10 deficiency, primary, 1 AD, AR
COX6A1 602072 intermediate type D Charcot-Marie-Tooth 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
CRPPA 614631 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C7 AR
CRYAB 123590 Myopathy, myofibrillar, 2; Cataract 16, multiple types; Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related; dilated cardiomyopathy-1II AD, AR
CSRP3 600824 dilated cardiomyopathy-1M; Cardiomyopathy, familial hypertrophic, 12 AD
CTDP1 604927 Congenital cataracts, facial dysmorphism, and neuropathy AR
DAG1 128239 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type C9 AR
DCTN1 601143 amyotrophic lateral sclerosis 1; Perry syndrome; Neuronopathy, Distal Hereditary Motor, Type Viib AD, AR
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
DHTKD1 614984 2-aminoadipic 2-oxoadipic aciduria; type 2Q Charcot-Marie-Tooth disease AD, AR
DMD 300377 Becker muscular dystrophy; dilated cardiomyopathy type 3B; Duchenne muscular dystrophy XL, XLR
DMPK 605377 myotonic dystrophy type 1 AD
DNA2 601810 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6 AD, AR
DNAJB2 604139 autosomal recessive distal spinal muscular atrophy type 5 AR
DNAJB6 611332 limb-girdle muscular dystrophy type 1E AD
DNM2 602378 Myopathy, centronuclear 1; CHARCOT-MARIE-TOOTH, DOMINANT INTERMEDIATE TYPE B; Lethal congenital contracture syndrome 5 AD, AR
DNMT1 126375 cerebellar ataxia, deafness and narcolepsy; Neuropathy, hereditary sensory, type IE AD
DOK7 610285 congenital myasthenic syndrome type 10 AR
DPAGT1 191350 congenital disorder of glycosylation type 1j; Myasthenic syndrome, congenital, with tubular aggregates 13 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
DYNC1H1 600112 lower extremity-predominant spinal muscular atrophy type 1; type 2O Charcot-Marie-Tooth disease; mental retardation-13 AD
DYSF 603009 limb-girdle muscular dystrophy type 2B; Miyoshi muscular dystrophy type 1; distal myopathy with anterior tibial onset AR
ECEL1 605896 distal arthrogryposis type 5D AR
EGR2 129010 Dejerine-Sottas syndrom; congenital hypomyelinating neuropathy; type 1D Charcot-Marie-Tooth disease AD, AR
ELP1 603722 hereditary sensory and autonomic neuropathy type III AR
EMD 300384 Emery-Dreifuss muscular dystrophy type 1 XLR
ENO3 131370 Glycogen storage disease XIII AR
ERCC5 133530 xeroderma pigmentosum complementation group G; cerebrooculofacioskeletal syndrome type 3 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
EXOSC3 606489 pontocerebellar hypoplasia type 1B AR
EXOSC8 606019 AR
FBLN5 604580 Cutis laxa, autosomal recessive, type IA; hereditary neuropathy with or without age-related macular degeneration AD, AR
FBN2 612570 congenital contractural arachnodactyly; early-onset macular degeneration AD
FBXO38 608533 distal hereditary motor neuronopathy type IID AD
FGD4 611104 type 4H Charcot-Marie-Tooth disease 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
FIG4 609390 Yunis-Varon syndrome; type 4J Charcot-Marie-Tooth disease; amyotrophic lateral sclerosis 11; Polymicrogyria, bilateral temporooccipital AD, AR
FKBP10 607063 Bruck syndrome 1; osteogenesis imperfecta type 11 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
FLNC 102565 Myopathy, myofibrillar, 5; distal myopathy type 4; Cardiomyopathy, Familial Hypertrophic, 26 AD
GAA 606800 Pompe disease AR
GAN 605379 giant axonal neuropathy AR
GARS1 600287 Neuropathy, distal hereditary motor, type V; type 2D Charcot-Marie-Tooth disease AD
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
GDAP1 606598 type 4A Charcot-Marie-Tooth disease; type 2K Charcot-Marie-Tooth disease AD, AR
GFPT1 138292 congenital myasthenic syndrome with tubular aggregates type 1 AR
GJB1 304040 Charcot-Marie-Tooth disease type 1 XLD
GLE1 603371 Lethal congenital, contracture syndrome 1 AR
GLRA1 138491 Hyperekplexia, hereditary 1, autosomal dominant or recessive AD, AR
GLRB 138492 Hyperekplexia 2, autosomal recessive 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
GNB4 610863 intermediate type F Charcot-Marie-Tooth AD
GNE 603824 Sialuria; Nonaka myopathy AD, AR
GPHN 603930 Molybdenum cofactor deficiency, complementation group c AR
GYG1 603942 Glycogen storage disease XV; Polyglucosan body myopathy 2 AR
GYS1 138570 Glycogen storage disease 0, muscle AR
HADHA 600890 mitochondrial trifunctional protein deficiency; long-chain 3-hydroxyl-CoA dehydrogenase deficiency AR
HADHB 143450 mitochondrial trifunctional protein 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
HNRNPDL 607137 limb-girdle muscular dystrophy type 1G AD
HOXD10 142984 AD
HRAS 190020 Bladder Cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Costello syndrome AD
HSPB1 602195 type 2F Charcot-Marie-Tooth disease; Neuropathy, distal hereditary motor, type IIB AD
HSPB3 604624 Neuronopathy, distal hereditary motor, type iic AD
HSPB8 608014 Neuropathy, distal hereditary motor, type IIA; type 2L Charcot-Marie-Tooth disease AD
HSPG2 142461 Silverman-Handmaker type of dyssegmental dysplasia; Schwartz-Jampel syndrome AR
IGHMBP2 600502 distal hereditary motor neuronopathy type VI; type 2S Charcot-Marie-Tooth disease AR
INF2 610982 Focal Segmental Glomerulosclerosis 5; intermediate type E Charcot-Marie-Tooth AD
ISCU 611911 AR
ITGA7 600536 Muscular dystrophy, congenital, due to ITGA7 deficiency AR
KARS1 601421 CHARCOT-MARIE-TOOTH, RECESSIVE INTERMEDIATE TYPE B; Deafness, autosomal recessive 89 AR
KAT6B 605880 Ohdo syndrome, SBBYS variant; Genitopatellar syndrome AD
KBTBD13 613727 Nemaline Myopathy 6 AD
KCNA1 176260 Episodic ataxia/myokymia syndrome AD
KCNE3 604433 Brugada syndrome 6
KIF1A 601255 spastic paraplegia 30; Neuropathy, hereditary sensory, type IIC; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 AD, AR
KIF1B 605995 type 2A1 Charcot-Marie-Tooth disease; pheochromocytoma AD
KIF5A 602821 spastic paraplegia 10; Neonatal intractable myoclonus AD
KLHL40 615340 Nemaline myopathy 8, autosomal recessive AR
KLHL41 607701 Nemaline myopathy 9 AR
LAMA2 156225 congenital muscular dystrophy type 1A; limb-girdle Muscular dystrophy type 23 AR
LAMB2 150325 Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 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
LIMS2 607908 limb-girdle muscular dystrophy type 2W AR
LITAF 603795 type 1C Charcot-Marie-Tooth disease AD
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
LMOD3 616112 Nemaline myopathy 10 AR
LPIN1 605518 Myoglobinuria, acute recurrent, autosomal recessive AR
LRSAM1 610933 type 2P Charcot-Marie-Tooth disease AD, AR
MAGEL2 605283 Schaaf-Yang syndrome AD
MAMLD1 300120 Hypospadias 2, X-linked XLR
MARS1 156560 Interstitial lung and liver disease; type 2U Charcot-Marie-Tooth disease AD, AR
MATR3 164015 Myopathy, Distal, 2 AD
MED25 610197 Basel-Vanagait-Smirin-Yosef syndrome AR
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
MICU1 605084 Myopathy with extrapyramidal signs 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
MTM1 300415 X-linked myotubular myopathy XLR
MTMR14 611089 Myopathy, centronuclear 1 AD
MTMR2 603557 type 4B1 Charcot-Marie-Tooth disease AR
MUSK 601296 Fetal akinesia deformation sequence; myasthenic syndrome, congenital type 9, associated with acetylcholine receptor deficiency AR
MYBPC1 160794 Arthrogryposis, distal, type 1B; Lethal congenital contracture syndrome 4 AD, AR
MYBPC3 600958 familial hypertrophic cardiomyopathy 4; dilated cardiomyopathy-1MM AD, AR
MYH2 160740 Inclusion body myopathy 3, autosomal dominant AD, AR
MYH3 160720 distal arthrogryposis type 2A; Distal arthrogryposis type 2B3 (Sheldon-Hall) AD, AR
MYH7 160760 Liang distal myopathy; Scapuloperoneal syndrome, myopathic type; familial hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myopathy, myosin storage, autosomal dominant; dilated cardiomyopathy-1S AD, AR, DiD
MYH8 160741 distal arthrogryposis type 7; Carney complex variant AD
MYO18B 607295 Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism AR
MYOT 604103 Myopathy, spheroid body; Myopathy, myofibrillar, 3; limb-girdle muscular dystrophy type 1A AD
MYPN 608517 dilated cardiomyopathy-1KK; Autosomal recessive Nemaline myopathy type 11 AD, AR
NALCN 611549 Hypotonia, infantile, with psychomotor retardation and characteristic facies; Congenital contractures of the limbs and face, hypotonia, and developmental delay AD, AR
NDRG1 605262 type 4D Charcot-Marie-Tooth disease AR
NEB 161650 nemaline myopathy type 2 AR
NTRK1 191315 hereditary sensory and autonomic neuropathy type 4 AR
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
PDK3 300906 type X6 Charcot-Marie-Tooth XLD
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
PIEZO2 613629 Arthrogryposis, distal, type 5; Marden-Walker syndrome; Arthrogryposis, distal, with impaired proprioception and touch 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
PLEKHG5 611101 autosomal recessive distal spinal muscular atrophy type 4; recessive intermediate Charcot-Marie-Tooth disease type C AR
PLOD2 601865 Bruck syndrome 2 AR
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
PNPLA2 609059 Neutral lipid storage disease with myopathy 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
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
PREPL 609557 congenital myasthenic syndrome type 22 AR
PRKAG2 602743 Wolff-Parkinson-White syndrome; fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease; familial hypertrophic cardiomyopathy 6 AD
PRPS1 311850 Phosphoribosylpyrophosphate synthetase superactivity; Arts syndrome; deafness type 1; type X5 Charcot-Marie-Tooth XL, XLR
PRX 605725 Dejerine-Sottas syndrom; type 4F Charcot-Marie-Tooth disease AD, AR
PYGM 608455 glycogen storage disease type 5 AR
QARS1 603727 Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy AR
RAB7A 602298 type 2B Charcot-Marie-Tooth disease AD
RAPSN 601592 congenital myasthenic syndrome, type 11, associated with acetylcholine receptor deficiency AR
RBCK1 610924 Polyglucosan body myopathy 1 with or without immunodeficiency AR
REEP1 609139 spastic paraplegia 31; Neuronopathy, distal hereditary motor, type VB AD
RETREG1 613114 hereditary sensory and autonomic neuropathy type IIB AR
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
SBF1 603560 type 4B3 Charcot-Marie-Tooth disease AR
SBF2 607697 type 4B2 Charcot-Marie-Tooth disease AR
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
SELENON 606210 Myopathy, congenital, with fiber-type disproportion; rigid spine syndrome AD, AR
SGCA 600119 limb-girdle Muscular dystrophy type 3 AR
SGCB 600900 limb-girdle muscular dystrophy type 2E AR
SGCD 601411 limb-girdle muscular dystrophy type 2F; dilated cardiomyopathy-1L AR
SGCE 604149 myoclonus-dystonia AD
SGCG 608896 limb-girdle muscular dystrophy type 2C AR
SH3TC2 608206 type 4C Charcot-Marie-Tooth disease; Mononeuropathy of the median nerve, mild AD, AR
SIL1 608005 Marinesco-Sjogren syndrome AR
SLC12A6 604878 Agenesis of the corpus callosum with peripheral neuropathy AR
SLC16A1 600682 Monocarboxylate transporter 1 deficiency AD, AR
SLC22A5 603377 systemic primary carnitine deficiency AR
SLC25A1 190315 Combined D-2- and L-2-hydroxyglutaric aciduria AR
SLC25A20 613698 Carnitine-acylcarnitine translocase deficiency AR
SLC25A46 610826 Neuropathy, hereditary motor and sensory, type VIB AR
SLC5A7 608761 Neuronopathy, distal hereditary motor, type VIIA; Myasthenic syndrome, congenital, 20, presynaptic AD, AR
SLC6A5 604159 Hyperekplexia 3 AD, AR
SMCHD1 614982 Fascioscapulohumeral muscular dystrophy 2, digenic AD
SMN1 600354 spinal muscular atrophy type 1; spinal muscular atrophy type 3; spinal muscular atrophy type 2; spinal muscular atrophy type 4 AR
SMN2 601627 spinal muscular atrophy type 3 AR
SPEG 615950 centronuclear myopathy type 5 AR
SPG11 610844 Amyotrophic lateral sclerosis 5, juvenile; spastic paraplegia type 11; Charcot-Marie-Tooth disease, axonal, type 2X AR
SPTLC1 605712 Neuropathy, hereditary sensory and autonomic, type IA AD
SPTLC2 605713 Neuropathy, hereditary sensory and autonomic, type ic AD
SUCLA2 603921 mitochondrial DNA depletion syndrome 5 AR
SYNE1 608441 autosomal recessive spinocerebellar ataxia 8; Emery-Dreifuss muscular dystrophy 4 AD, AR
SYNE2 608442 Emery-Dreifuss muscular dystrophy 5 AD
TAZ 300394 Barth syndrome XLR
TCAP 604488 limb-girdle muscular dystrophy type 2G; cardiomyopathy, familial hypertrophic, 25 AD, AR
TFG 602498 Hereditary motor and sensory neuropathy, Okinawa type; spastic paraplegia 57 AD, AR
TGFB3 190230 Arrhythmogenic right ventricular dysplasia 1; Loeys-Dietz syndrome 5 AD
TK2 188250 mitochondrial DNA depletion syndrome 2 AR
TMEM43 612048 arrhythmogenic right ventricular dysplasia 5 AD
TNNI2 191043 distal arthrogryposis type 2B AD
TNNT1 191041 Nemaline myopathy 5, Amish type AR
TNNT3 600692 AD
TNPO3 610032 limb-girdle muscular dystrophy type 1F AD
TOR1A 605204 dystonia 1 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
TRAPPC11 614138 limb-girdle muscular dystrophy type 2S AR
TRIM2 614141 type 2R Charcot-Marie-Tooth disease AR
TRIM32 602290 limb-girdle muscular dystrophy type 2H; Bardet-Biedl syndrome 11 AR
TRPV4 605427 Brachyolmia type 3; Metatropic dysplasia; Spondylometaphyseal dysplasia, Kozlowski type; Hereditary motor and sensory neuropathy, type IIc AD
TSEN2 608753 pontocerebellar hypoplasia type 2B AR
TSFM 604723 Combined oxidative phosphorylation deficiency 3 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
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
UBA1 314370 X-linked infantile spinal muscular atrophy type 2 XLR
VAMP1 185880 Spastic ataxia 1, autosomal dominant; Myasthenic syndrome, congenital, 25 AD, AR
VAPB 605704 Finkel type late-onset spinal muscular atrophy; amyotrophic lateral sclerosis 8 AD
VCP 601023 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; amyotrophic lateral sclerosis 14; Charcot-Marie-Tooth disease type 2Y AD
VIPAS39 613401 Arthrogryposis, renal dysfunction, and cholestasis 2 AR
VRK1 602168 pontocerebellar hypoplasia type 1A AR
WNK1 605232 Neuropathy, hereditary sensory and autonomic, type II; Pseudohypoaldosteronism, type IIC AD, AR
XK 314850 Mcleod syndrome XL
YARS1 603623 intermediate type C Charcot-Marie-Tooth AD

COMMON SYNDROMES AND DISORDERS COVERED

Arthrogryposis
Bethlem myopathy
Charcot–Marie–Tooth disease
Congenital myasthenic syndrome
Congenital myopathy
Dejerine-Sottas syndrome
Hyperekplexia
Hypotonia
Malignant hyperthermia
Metabolic myopathies
Muscular dystrophy
Muscular dystrophy-dystroglycanopathy type A
Myofibrillar myopathy
Myopathy-rhabdomyolysis syndrome
Nemaline myopathy
Non-dystrophic myotonia congenita
Ullrich muscular dystrophy

Available downloads for the Neuromuscular panel

  • Pediatric Neurology panels - Product sheet

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Parkinson disease panel

Our Parkinson disease (PD) panel identifies all relevant pathophysiologically genetic variants for the development and treatment of PD. Characteristic features of PD include neuronal loss in specific areas of the substantia nigra and widespread intracellular protein α-synuclein accumulation. The disease is characterized by three core motor symptoms: tremor, muscle rigidity, and bradykinesia.

No. of genes:37
TAT:25 days
Coverage:≥99.5% ≥20x
Details:CNV analysis included

Gene OMIM (Gene) Associated diseases (OMIM) Inheritance
ATP13A2 610513 Kufor-Rakeb syndrome; spastic paraplegia type 78 AR
ATP1A3 182350 Dystonia 12; Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; Alternating hemiplegia of childhood 2 AD
ATP6AP2 300556 syndromic mental retardation, Hedera type XLR
ATP7B 606882 Wilson disease AR
C19orf12 614297 neurodegeneration with brain iron accumulation 4; spastic paraplegia 43 AD, AR
DCTN1 601143 amyotrophic lateral sclerosis 1; Perry syndrome; Neuronopathy, Distal Hereditary Motor, Type Viib AD, AR
DNAJC6 608375 Parkinson disease 19, juvenile-onset AR
FBXO7 605648 Parkinson disease 15, autosomal recessive AR
FTL 134790 Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3 AD, AR
FUS 137070 amyotrophic lateral sclerosis 6; Tremor, hereditary essential, 4 AD
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
GCH1 600225 dopa-responsive dystonia; Hyperphenylalaninemia, BH4-deficient, B AD, AR
GRN 138945 frontotemporal lobar degeneration with ubiquitin-positive inclusions; neuronal ceroid lipofuscinosis type 11 AD, AR
HTRA2 606441 Parkinson disease 13; 3-methylglutaconic aciduria, type VIII AR
LRRK2 609007 Parkinson disease 8 AD
MAPT 157140 Susceptibility to late-onset Parkinson disease; Pick disease; Dementia, frontotemporal AD, AR
PANK2 606157 neurodegeneration with brain iron accumulation type 1; HARP syndrome AR
PARK7 602533 Parkinson disease 7 AR
PINK1 608309 Parkinson disease 6 AR
PLA2G6 603604 infantile neuroaxonal dystrophy; neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 AR
PRKN 602544 Ovarian Cancer; Lung Cancer; Parkinson disease 2 AR
PRKRA 603424 dystonia 16 AR
RAB39B 300774 mental retardation 72 XLR
SLC20A2 158378 Basal ganglia calcification, idiopathic, 1 AD
SLC30A10 611146 Hypermanganesemia with dystonia, polycythemia, and cirrhosis AR
SLC6A3 126455 Tobacco Addiction, Susceptibility To; Parkinsonism-dystonia, infantile AR
SNCA 163890 Lewy body dementia; Parkinson disease 1 AD
SNCB 602569 Lewy body dementia AD
SPR 182125 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency ?AD, AR
SYNJ1 604297 Parkinson disease 20, early-onset; early infantile epileptic encephalopathy type 53 AR
TH 191290 Segawa syndrome AR
TMEM230 617019
UCHL1 191342 Parkinson disease 5, autosomal dominant; autosomal recessive spastic paraplegia type 79 AD, AR
VPS13A 605978 Choreoacanthocytosis AR
VPS35 601501 Parkinson disease 17 AD
WDR45 300526 neurodegeneration with brain iron accumulation 5 XLD

Common syndromes and disorders covered

Parkinson disease

Spastic paraplegia panel

Our spastic paraplegia panel is recommended for patients displaying spastic gait impairment, spastic weakness, and hyperreflexia. Our panel screens for recessive, dominant, and x-linked forms of hereditary spastic paraplegia (HSP) which can not be distinguished by clinical and neuroimaging parameters alone. For patients that also show complex HSP and display other neurological signs including ataxia, intellectual disability, dementia, extrapyramidal signs, visual dysfunction, or epilepsy, we recommend CentoNeuro™.

No. of genes:65
TAT:25 days
Coverage:≥99.5% ≥20x
Details:CNV analysis included

Gene OMIM (Gene) Associated diseases (OMIM) Inheritance
ABCD1 300371 adrenoleukodystrophy XLR
ALDH18A1 138250 Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR
ALS2 606352 amyotrophic lateral sclerosis 2; Spastic paralysis, infantile onset ascending AR
AMPD2 102771 pontocerebellar hypoplasia 9 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
AP5Z1 613653 spastic paraplegia 48 AR
ARL6IP1 607669 spastic paraplegia 61 AR
ATL1 606439 spastic paraplegia 3A AD
ATP13A2 610513 Kufor-Rakeb syndrome; spastic paraplegia type 78 AR
B4GALNT1 601873 spastic paraplegia 26 AR
BICD2 609797 autosomal dominant lower extremity-predominant spinal muscular atrophy type 2 AD
BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary motor, type V; Encephalopathy, progressive, with or without lipodystrophy AD, AR
C12orf65 613541 Combined oxidative phosphorylation deficiency 7 AR
C19orf12 614297 neurodegeneration with brain iron accumulation 4; spastic paraplegia 43 AD, AR
CCT5 610150 Neuropathy, hereditary sensory, with spastic paraplegia AR
CYP2U1 610670 spastic paraplegia 56 AR
CYP7B1 603711 spastic paraplegia 5A AR
DDHD1 614603 spastic paraplegia 28 AR
DDHD2 615003 spastic paraplegia 54 AR
ENTPD1 601752 spastic paraplegia 64 AR
ERLIN1 611604 spastic paraplegia 62 AR
ERLIN2 611605 spastic paraplegia 18 AR
EXOSC3 606489 pontocerebellar hypoplasia type 1B AR
FA2H 611026 spastic paraplegia 35 AR
FARS2 611592 Combined oxidative phosphorylation deficiency 14; spastic paraplegia type 77 AR
GBA2 609471 spastic paraplegia 46 AR
GJC2 608803 Leukodystrophy, hypomyelinating, 2; spastic paraplegia 44 AD, AR
HSPD1 118190 spastic paraplegia 13; hypomyelinating leukodystrophy-4 AD, AR
IBA57 615316 Multiple mitochondrial dysfunctions syndrome 3 AR
KDM5C 314690 syndromic mental retardation - Claes-Jensen type XLR
KIF1A 601255 spastic paraplegia 30; Neuropathy, hereditary sensory, type IIC; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 AD, AR
KIF1C 603060 Spastic ataxia 2, autosomal recessive AR
KIF5A 602821 spastic paraplegia 10; Neonatal intractable myoclonus AD
L1CAM 308840 spastic paraplegia type 1; partial agenesis of the corpus callosum; hydrocephalus with stenosis of the aqueduct of Sylvius XLR
MAG 159460 Spastic paraplegia 75, autosomal recessive AR
MARS1 156560 Interstitial lung and liver disease; type 2U Charcot-Marie-Tooth disease AD, AR
NIPA1 608145 spastic paraplegia type 6 AD
NT5C2 600417 spastic paraplegia 45 AR
PGAP1 611655 mental retardation 42 AR
PLP1 300401 Pelizaeus-Merzbacher disease; spastic paraplegia 2 XLR
PNPLA6 603197 Boucher-Neuhauser syndrome; spastic paraplegia 39 AR
RAB3GAP2 609275 Martsolf syndrome; Warburg micro syndrome 2 AR
REEP1 609139 spastic paraplegia 31; Neuronopathy, distal hereditary motor, type VB AD
REEP2 609347 spastic paraplegia 72 AD, AR
RTN2 603183 spastic paraplegia 12 AD
SACS 604490 spastic ataxia of Charlevoix-Saguenay AR
SLC16A2 300095 Allan-Herndon-Dudley syndrome XL
SLC33A1 603690 spastic paraplegia 42; Congenital cataracts, hearing loss, and neurodegeneration AD, AR
SPART 607111 spastic paraplegia 20 AR
SPAST 604277 spastic paraplegia-4 AD
SPG11 610844 Amyotrophic lateral sclerosis 5, juvenile; spastic paraplegia type 11; Charcot-Marie-Tooth disease, axonal, type 2X AR
SPG21 608181 spastic paraplegia type 21 AR
SPG7 602783 spastic paraplegia 7 AD, AR
TECPR2 615000 spastic paraplegia type 49 AR
TFG 602498 Hereditary motor and sensory neuropathy, Okinawa type; spastic paraplegia 57 AD, AR
TTR 176300 familial transthyretin amyloidosis AD
USP8 603158 Pituitary adenoma, ACTH-secreting; Pituitary adenoma 4, ACTH-secreting, somatic
VAMP1 185880 Spastic ataxia 1, autosomal dominant; Myasthenic syndrome, congenital, 25 AD, AR
VPS37A 609927 spastic paraplegia 53 AR
WASHC5 610657 Ritscher-Schinzel syndrome; spastic paraplegia 8 AD, AR
ZFYVE26 612012 spastic paraplegia type 15 AR
ZFYVE27 610243 spastic paraplegia 33 AD

Common syndromes and disorders covered

Spastic paraplegia, autosomal dominant
Spastic paraplegia, autosomal recessive

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