Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.
qGenEx TMV analiza 235 genes asociados a trastornos del movimiento usando secuenciación de exoma completo mediante NGS.
Utiliza el buscador para encontrar el grupo de genes relacionados con la patología que te interesa incluidos en el panel:
Gene | Median coverage | % covered > 10x | % covered > 20x | Associated Phenotype description and OMIM disease ID | |
---|---|---|---|---|---|
AARS2 | 132.9 | 0.99 | 0.98 | Combined oxidative phosphorylation deficiency 8 | 614096 |
AARS2 | 132.9 | 0.99 | 0.98 | Leukoencephalopathy, progressive, with ovarian failure, | 615889 |
ABCB7 | 156 | 0.99 | 0.97 | Anemia, sideroblastic, with ataxia, | 301310 |
ABCD1 | 96 | 0.77 | 0.68 | Adrenoleukodystrophy, | 300100 |
ABCD1 | 96 | 0.77 | 0.68 | Adrenomyeloneuropathy, adult, | 300100 |
ABHD12 | 114.9 | 0.97 | 0.91 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, | 612674 |
ACTB | 134.1 | 0.98 | 0.93 | Baraitser-Winter syndrome 1 | 243310 |
ACTB | 134.1 | 0.98 | 0.93 | ?Dystonia, juvenile-onset, | 607371 |
ADAR | 131.7 | 1 | 0.99 | Aicardi-Goutieres syndrome 6 | 615010 |
ADAR | 131.7 | 1 | 0.99 | Dyschromatosis symmetrica hereditaria, | 127400 |
ADCK3 | 146 | 0.99 | 0.98 | Coenzyme Q10 deficiency, primary, 4 | 612016 |
ADCY5 | 144.8 | 0.93 | 0.91 | Dyskinesia, familial, with facial myokymia, | 606703 |
AFG3L2 | 126.4 | 0.92 | 0.85 | Ataxia, spastic, 5 autosomal recessive, | 614487 |
AFG3L2 | 126.4 | 0.92 | 0.85 | Spinocerebellar ataxia 28 | 610246 |
ALDH18A1 | 143 | 1 | 0.99 | Cutis laxa, autosomal dominant 3 | 616603 |
ALDH18A1 | 143 | 1 | 0.99 | Cutis laxa, autosomal recessive, type IIIA, | 219150 |
ALDH18A1 | 143 | 1 | 0.99 | Spastic paraplegia 9A, autosomal dominant, | 601162 |
ALDH18A1 | 143 | 1 | 0.99 | Spastic paraplegia 9B, autosomal recessive, | 616586 |
ALDH3A2 | 157.4 | 1 | 0.99 | Sjogren-Larsson syndrome, | 270200 |
ALS2 | 184.7 | 0.99 | 0.99 | Amyotrophic lateral sclerosis 2 juvenile, | 205100 |
ALS2 | 184.7 | 0.99 | 0.99 | Primary lateral sclerosis, juvenile, | 606353 |
ALS2 | 184.7 | 0.99 | 0.99 | Spastic paralysis, infantile onset ascending, | 607225 |
ANO10 | 126.6 | 0.99 | 0.96 | Spinocerebellar ataxia, autosomal recessive 10 | 613728 |
ANO3 | 175 | 0.99 | 0.97 | Dystonia 24 | 615034 |
AP4B1 | 166 | 1 | 0.99 | Spastic paraplegia 47 autosomal recessive, | 614066 |
AP4E1 | 117.3 | 0.99 | 0.96 | Spastic paraplegia 51 autosomal recessive, | 613744 |
AP4E1 | 117.3 | 0.99 | 0.96 | Stuttering, familial persistent, 1 | 184450 |
AP4M1 | 125.9 | 0.99 | 0.97 | Spastic paraplegia 50 autosomal recessive, | 612936 |
AP4S1 | 78.3 | 0.74 | 0.68 | Spastic paraplegia 52 autosomal recessive, | 614067 |
AP5Z1 | 95 | 0.99 | 0.98 | Spastic paraplegia 48 autosomal recessive, | 613647 |
APTX | 136.6 | 0.93 | 0.9 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, | 208920 |
ARG1 | 172.1 | 1 | 1 | Argininemia, | 207800 |
ARSA | 111.5 | 1 | 0.99 | Metachromatic leukodystrophy, | 250100 |
ARX | 39.1 | 0.82 | 0.7 | Epileptic encephalopathy, early infantile, 1 | 308350 |
ARX | 39.1 | 0.82 | 0.7 | Hydranencephaly with abnormal genitalia, | 300215 |
ARX | 39.1 | 0.82 | 0.7 | Lissencephaly, X-linked 2 | 300215 |
ARX | 39.1 | 0.82 | 0.7 | Mental retardation, X-linked 29 and others, | 300419 |
ARX | 39.1 | 0.82 | 0.7 | Partington syndrome, | 309510 |
ARX | 39.1 | 0.82 | 0.7 | Proud syndrome, | 300004 |
ASPA | 151.7 | 0.99 | 0.92 | Canavan disease, | 271900 |
ATCAY | 166.6 | 1 | 0.99 | Ataxia, cerebellar, Cayman type, | 601238 |
ATL1 | 195.9 | 0.98 | 0.95 | Neuropathy, hereditary sensory, type ID, | 613708 |
ATL1 | 195.9 | 0.98 | 0.95 | Spastic paraplegia 3A, autosomal dominant, | 182600 |
ATM | 124.3 | 0.98 | 0.93 | Ataxia-telangiectasia, | 208900 |
ATM | 124.3 | 0.98 | 0.93 | Lymphoma, B-cell non-Hodgkin, somatic | 208900 |
ATM | 124.3 | 0.98 | 0.93 | Lymphoma, mantle cell, somatic | 208900 |
ATM | 124.3 | 0.98 | 0.93 | T-cell prolymphocytic leukemia, somatic | 208900 |
ATM | 124.3 | 0.98 | 0.93 | {Breast cancer, susceptibility to}, | 114480 |
ATP13A2 | 129 | 0.99 | 0.98 | Kufor-Rakeb syndrome, | 606693 |
ATP13A2 | 129 | 0.99 | 0.98 | ?Ceroid lipofuscinosis, neuronal, 12 | 606693 |
ATP1A2 | 209.6 | 1 | 1 | Alternating hemiplegia of childhood, | 104290 |
ATP1A2 | 209.6 | 1 | 1 | Migraine, familial basilar, | 602481 |
ATP1A2 | 209.6 | 1 | 1 | Migraine, familial hemiplegic, 2 | 602481 |
ATP1A3 | 205.7 | 1 | 1 | Alternating hemiplegia of childhood 2 | 614820 |
ATP1A3 | 205.7 | 1 | 1 | CAPOS syndrome, | 601338 |
ATP1A3 | 205.7 | 1 | 1 | Dystonia-12, | 128235 |
ATP2B3 | 161.5 | 0.99 | 0.98 | ?Spinocerebellar ataxia, X-linked 1 | 302500 |
ATP7B | 173 | 0.99 | 0.99 | Wilson disease, | 277900 |
B4GALNT1 | 163.9 | 0.99 | 0.96 | Spastic paraplegia 26 autosomal recessive, | 609195 |
BCAP31 | 74.1 | 0.93 | 0.81 | Deafness, dystonia, and cerebral hypomyelination, | 300475 |
BCKDHA | 186.9 | 0.99 | 0.99 | Maple syrup urine disease, type Ia, | 248600 |
BCKDHB | 124.4 | 0.89 | 0.81 | Maple syrup urine disease, type Ib, | 248600 |
BSCL2 | 126.4 | 1 | 0.99 | Encephalopathy, progressive, with or without lipodystrophy, | 615924 |
BSCL2 | 126.4 | 1 | 0.99 | Lipodystrophy, congenital generalized, type 2 | 269700 |
BSCL2 | 126.4 | 1 | 0.99 | Neuropathy, distal hereditary motor, type VA, | 600794 |
BSCL2 | 126.4 | 1 | 0.99 | Silver spastic paraplegia syndrome, | 270685 |
C10orf2 | 193.6 | 1 | 1 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), | 271245 |
C10orf2 | 193.6 | 1 | 1 | Perrault syndrome 5 | 616138 |
C10orf2 | 193.6 | 1 | 1 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 609286 |
C12orf65 | 91.3 | 0.97 | 0.92 | Combined oxidative phosphorylation deficiency 7 | 613559 |
C12orf65 | 91.3 | 0.97 | 0.92 | Spastic paraplegia 55 autosomal recessive, | 615035 |
C19orf12 | 100.8 | 1 | 0.99 | Neurodegeneration with brain iron accumulation 4 | 614298 |
C19orf12 | 100.8 | 1 | 0.99 | ?Spastic paraplegia 43 autosomal recessive, | 615043 |
CA8 | 120.5 | 0.95 | 0.9 | Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 | 613227 |
CACNA1A | 105.6 | 0.95 | 0.91 | Episodic ataxia, type 2 | 108500 |
CACNA1A | 105.6 | 0.95 | 0.91 | Migraine, familial hemiplegic, 1 | 141500 |
CACNA1A | 105.6 | 0.95 | 0.91 | Migraine, familial hemiplegic, 1 with progressive cerebellar ataxia, | 141500 |
CACNA1A | 105.6 | 0.95 | 0.91 | Spinocerebellar ataxia 6 | 183086 |
CACNA1G | 147.8 | 0.99 | 0.98 | Spinocerebellar ataxia 42 | 616795 |
CACNB4 | 126.8 | 0.98 | 0.97 | Episodic ataxia, type 5 | 613855 |
CACNB4 | 126.8 | 0.98 | 0.97 | {Epilepsy, idiopathic generalized, susceptibility to, 9}, | 607682 |
CACNB4 | 126.8 | 0.98 | 0.97 | {Epilepsy, juvenile myoclonic, susceptibility to, 6}, | 607682 |
CAMTA1 | 193.2 | 0.99 | 0.99 | Cerebellar ataxia, nonprogressive, with mental retardation, | 614756 |
CAPN1 | 169.4 | 1 | 1 | Spastic paraplegia 76 autosomal recessive, | 616907 |
CCT5 | 166 | 1 | 0.99 | Neuropathy, hereditary sensory, with spastic paraplegia, | 256840 |
CIZ1 | 176.8 | 0.99 | 0.97 | No OMIM phenotype | 256840 |
CIZ1 | 176.8 | 0.99 | 0.97 | Cervical dystonia, primary (Xiao -2012 Ann Neurol 71 458) | 256840 |
COASY | 168 | 1 | 1 | Neurodegeneration with brain iron accumulation 6 | 615643 |
COL4A1 | 101.8 | 0.98 | 0.93 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, | 611773 |
COL4A1 | 101.8 | 0.98 | 0.93 | Brain small vessel disease with or without ocular anomalies, | 607595 |
COL4A1 | 101.8 | 0.98 | 0.93 | Porencephaly 1 | 175780 |
COL4A1 | 101.8 | 0.98 | 0.93 | ?Retinal arteries, tortuosity of, | 180000 |
COL4A1 | 101.8 | 0.98 | 0.93 | {Hemorrhage, intracerebral, susceptibility to}, | 614519 |
COQ2 | 84.5 | 0.95 | 0.92 | Coenzyme Q10 deficiency, primary, 1 | 607426 |
COQ2 | 84.5 | 0.95 | 0.92 | {Multiple system atrophy, susceptibility to}, | 146500 |
COQ9 | 105.7 | 0.99 | 0.98 | Coenzyme Q10 deficiency, primary, 5 | 614654 |
COX20 | 52.3 | 0.9 | 0.73 | Mitochondrial complex IV deficiency, | 220110 |
CP | 141 | 0.94 | 0.9 | Cerebellar ataxia, | 604290 |
CP | 141 | 0.94 | 0.9 | Hemosiderosis, systemic, due to aceruloplasminemia, | 604290 |
CP | 141 | 0.94 | 0.9 | [Hypoceruloplasminemia, hereditary], | 604290 |
CSF1R | 144.4 | 0.99 | 0.98 | Leukoencephalopathy, diffuse hereditary, with spheroids, | 221820 |
CSTB | 120.6 | 1 | 0.99 | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), | 254800 |
CYP27A1 | 188.7 | 0.97 | 0.95 | Cerebrotendinous xanthomatosis, | 213700 |
CYP2U1 | 140.9 | 0.95 | 0.92 | Spastic paraplegia 56 autosomal recessive, | 615030 |
CYP7B1 | 106.9 | 0.95 | 0.9 | Bile acid synthesis defect, congenital, 3 | 613812 |
CYP7B1 | 106.9 | 0.95 | 0.9 | Spastic paraplegia 5A, autosomal recessive, | 270800 |
DBT | 122.5 | 0.97 | 0.92 | Maple syrup urine disease, type II, | 248600 |
DCAF17 | 110.1 | 0.98 | 0.92 | Woodhouse-Sakati syndrome, | 241080 |
DCTN1 | 143.1 | 0.99 | 0.99 | Neuropathy, distal hereditary motor, type VIIB, | 607641 |
DCTN1 | 143.1 | 0.99 | 0.99 | Perry syndrome, | 168605 |
DCTN1 | 143.1 | 0.99 | 0.99 | {Amyotrophic lateral sclerosis, susceptibility to}, | 105400 |
DDC | 118.6 | 0.99 | 0.96 | Aromatic L-amino acid decarboxylase deficiency, | 608643 |
DDHD1 | 166.1 | 0.96 | 0.94 | Spastic paraplegia 28 autosomal recessive, | 609340 |
DDHD2 | 184.8 | 0.99 | 0.96 | Spastic paraplegia 54 autosomal recessive, | 615033 |
DLAT | 102.4 | 0.99 | 0.95 | Pyruvate dehydrogenase E2 deficiency, | 245348 |
DLD | 142 | 0.99 | 0.97 | Dihydrolipoamide dehydrogenase deficiency, | 246900 |
DNMT1 | 129 | 0.99 | 0.98 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, | 604121 |
DNMT1 | 129 | 0.99 | 0.98 | Neuropathy, hereditary sensory, type IE, | 614116 |
EIF2B1 | 156.3 | 1 | 0.99 | Leukoencephalopathy with vanishing white matter, | 603896 |
EIF2B2 | 157.2 | 1 | 0.99 | Leukoencephalopathy with vanishing white matter, | 603896 |
EIF2B2 | 157.2 | 1 | 0.99 | Ovarioleukodystrophy, | 603896 |
EIF2B3 | 180 | 1 | 1 | Leukoencephalopathy with vanishing white matter, | 603896 |
EIF2B4 | 161.8 | 0.99 | 0.99 | Leukoencephaly with vanishing white matter, | 603896 |
EIF2B4 | 161.8 | 0.99 | 0.99 | Ovarioleukodystrophy, | 603896 |
EIF2B5 | 133.8 | 0.99 | 0.98 | Leukoencephalopathy with vanishing white matter, | 603896 |
EIF2B5 | 133.8 | 0.99 | 0.98 | Ovarioleukodystrophy, | 603896 |
EIF4G1 | 144.4 | 0.99 | 0.99 | {Parkinson disease 18}, | 614251 |
ELOVL5 | 129.5 | 1 | 0.99 | Spinocerebellar ataxia 38 | 615957 |
ERLIN2 | 167.7 | 0.99 | 0.99 | Spastic paraplegia 18 autosomal recessive, | 611225 |
FA2H | 108.9 | 0.94 | 0.88 | Spastic paraplegia 35 autosomal recessive, | 612319 |
FAR1 | 91.8 | 0.96 | 0.91 | Peroxisomal fatty acyl-CoA reductase 1 disorder, | 616154 |
FBXO7 | 237.5 | 0.99 | 0.97 | Parkinson disease 15 autosomal recessive, | 260300 |
FGF14 | 219 | 0.99 | 0.98 | Spinocerebellar ataxia 27 | 609307 |
FLVCR1 | 149.3 | 0.99 | 0.96 | Ataxia, posterior column, with retinitis pigmentosa, | 609033 |
FOLR1 | 166.3 | 1 | 1 | Neurodegeneration due to cerebral folate transport deficiency, | 613068 |
FRMD7 | 144.2 | 0.99 | 0.98 | Nystagmus 1 congenital, X-linked, | 310700 |
FRMD7 | 144.2 | 0.99 | 0.98 | Nystagmus, infantile periodic alternating, X-linked, | 310700 |
FTL | 131.3 | 0.99 | 0.92 | Hyperferritinemia-cataract syndrome, | 600886 |
FTL | 131.3 | 0.99 | 0.92 | L-ferritin deficiency, dominant and recessive, | 615604 |
FTL | 131.3 | 0.99 | 0.92 | Neurodegeneration with brain iron accumulation 3 | 606159 |
GALC | 112.3 | 0.97 | 0.93 | Krabbe disease, | 245200 |
GAN | 210.8 | 0.99 | 0.99 | Giant axonal neuropathy-1, | 256850 |
GBA | 237.3 | 1 | 1 | Gaucher disease, perinatal lethal, | 608013 |
GBA | 237.3 | 1 | 1 | Gaucher disease, type I, | 230800 |
GBA | 237.3 | 1 | 1 | Gaucher disease, type II, | 230900 |
GBA | 237.3 | 1 | 1 | Gaucher disease, type III, | 231000 |
GBA | 237.3 | 1 | 1 | Gaucher disease, type IIIC, | 231005 |
GBA | 237.3 | 1 | 1 | {Lewy body dementia, susceptibility to}, | 127750 |
GBA | 237.3 | 1 | 1 | {Parkinson disease, late-onset, susceptibility to}, | 168600 |
GBA2 | 187.3 | 1 | 0.99 | Spastic paraplegia 46 autosomal recessive, | 614409 |
GCDH | 148.6 | 0.93 | 0.91 | Glutaricaciduria, type I, | 231670 |
GCH1 | 91.2 | 0.95 | 0.86 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, | 128230 |
GCH1 | 91.2 | 0.95 | 0.86 | Hyperphenylalaninemia, BH4-deficient, B, | 233910 |
GFAP | 110.3 | 0.99 | 0.98 | Alexander disease, | 203450 |
GJC2 | 52.2 | 0.85 | 0.68 | Leukodystrophy, hypomyelinating, 2 | 608804 |
GJC2 | 52.2 | 0.85 | 0.68 | Lymphedema, hereditary, IC, | 613480 |
GJC2 | 52.2 | 0.85 | 0.68 | Spastic paraplegia 44 autosomal recessive, | 613206 |
GLB1 | 93.9 | 0.99 | 0.95 | GM1-gangliosidosis, type I, | 230500 |
GLB1 | 93.9 | 0.99 | 0.95 | GM1-gangliosidosis, type II, | 230600 |
GLB1 | 93.9 | 0.99 | 0.95 | GM1-gangliosidosis, type III, | 230650 |
GLB1 | 93.9 | 0.99 | 0.95 | Mucopolysaccharidosis type IVB (Morquio), | 253010 |
GNAL | 153.7 | 0.95 | 0.92 | Dystonia 25 | 615073 |
GOSR2 | 143.1 | 0.97 | 0.95 | Epilepsy, progressive myoclonic 6 | 614018 |
GPR143 | 77.7 | 0.91 | 0.85 | Nystagmus 6 congenital, X-linked, | 300814 |
GPR143 | 77.7 | 0.91 | 0.85 | Ocular albinism, type I, Nettleship-Falls type, | 300500 |
GPR56 | 173.8 | 1 | 1 | Polymicrogyria, bilateral frontoparietal, | 606854 |
GPR56 | 173.8 | 1 | 1 | Polymicrogyria, bilateral perisylvian, | 615752 |
GRID2 | 195.3 | 1 | 0.99 | Spinocerebellar ataxia, autosomal recessive 18 | 616204 |
GRM1 | 194.5 | 1 | 0.99 | Spinocerebellar ataxia, autosomal recessive 13 | 614831 |
HEXB | 152.6 | 0.97 | 0.91 | Sandhoff disease, infantile, juvenile, and adult forms, | 268800 |
HPRT1 | 75.3 | 0.94 | 0.84 | HPRT-related gout, | 300323 |
HPRT1 | 75.3 | 0.94 | 0.84 | Lesch-Nyhan syndrome, | 300322 |
HSPD1 | 92.7 | 0.96 | 0.89 | Leukodystrophy, hypomyelinating, 4 | 612233 |
HSPD1 | 92.7 | 0.96 | 0.89 | Spastic paraplegia 13 autosomal dominant, | 605280 |
ITPR1 | 176.7 | 1 | 0.99 | Gillespie syndrome, | 206700 |
ITPR1 | 176.7 | 1 | 0.99 | Spinocerebellar ataxia 15 | 606658 |
ITPR1 | 176.7 | 1 | 0.99 | Spinocerebellar ataxia 29 congenital nonprogressive, | 117360 |
KCNA1 | 178.7 | 1 | 0.99 | Episodic ataxia/myokymia syndrome, | 160120 |
KCNC1 | 213.9 | 1 | 0.99 | Epilepsy, progressive myoclonic 7 | 616187 |
KCNC3 | 155.3 | 0.71 | 0.58 | Spinocerebellar ataxia 13 | 605259 |
KCND3 | 207.2 | 1 | 0.98 | Brugada syndrome 9 | 616399 |
KCND3 | 207.2 | 1 | 0.98 | Spinocerebellar ataxia 19 | 607346 |
KCNJ10 | 229 | 1 | 0.99 | Enlarged vestibular aqueduct, digenic, | 600791 |
KCNJ10 | 229 | 1 | 0.99 | SESAME syndrome, | 612780 |
KCNJ6 | 196.9 | 1 | 0.99 | Keppen-Lubinsky syndrome, | 614098 |
KCNMA1 | 158.7 | 1 | 0.99 | Generalized epilepsy and paroxysmal dyskinesia, | 609446 |
KCTD7 | 144.9 | 0.93 | 0.92 | Epilepsy, progressive myoclonic 3 with or without intracellular inclusions, | 611726 |
KIAA0196 | 159.1 | 0.98 | 0.96 | Ritscher-Schinzel syndrome 1 | 220210 |
KIAA0196 | 159.1 | 0.98 | 0.96 | Spastic paraplegia 8 autosomal dominant, | 603563 |
KIAA0226 | 116.4 | 0.98 | 0.97 | ?Spinocerebellar ataxia, autosomal recessive 15 | 615705 |
KIAA2022 | 183 | 1 | 0.99 | Mental retardation, X-linked 98 | 300912 |
KIF1A | 134.8 | 0.99 | 0.97 | Mental retardation, autosomal dominant 9 | 614255 |
KIF1A | 134.8 | 0.99 | 0.97 | Neuropathy, hereditary sensory, type IIC, | 614213 |
KIF1A | 134.8 | 0.99 | 0.97 | Spastic paraplegia 30 autosomal recessive, | 610357 |
KIF1C | 126.4 | 0.99 | 0.99 | Spastic ataxia 2 autosomal recessive, | 611302 |
KIF5A | 147.5 | 1 | 0.99 | Spastic paraplegia 10 autosomal dominant, | 604187 |
KMT2B | 135.2 | 0.94 | 0.91 | No OMIM phenotype | 604187 |
KMT2B | 135.2 | 0.94 | 0.91 | Kleefstra-like syndrome (Agha -2014 PLoS One 9,e | 112687) |
L1CAM | 157.7 | 0.99 | 0.98 | Corpus callosum, partial agenesis of, | 304100 |
L1CAM | 157.7 | 0.99 | 0.98 | CRASH syndrome, | 303350 |
L1CAM | 157.7 | 0.99 | 0.98 | Hydrocephalus due to aqueductal stenosis, | 307000 |
L1CAM | 157.7 | 0.99 | 0.98 | Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, | 307000 |
L1CAM | 157.7 | 0.99 | 0.98 | Hydrocephalus with Hirschsprung disease, | 307000 |
L1CAM | 157.7 | 0.99 | 0.98 | MASA syndrome, | 303350 |
MARS2 | 168.8 | 1 | 1 | Spastic ataxia 3 autosomal recessive, | 611390 |
MARS2 | 168.8 | 1 | 1 | ?Combined oxidative phosphorylation deficiency 25 | 616430 |
MECP2 | 100 | 0.99 | 0.94 | Encephalopathy, neonatal severe, | 300673 |
MECP2 | 100 | 0.99 | 0.94 | Mental retardation, X-linked syndromic, Lubs type, | 300260 |
MECP2 | 100 | 0.99 | 0.94 | Mental retardation, X-linked, syndromic 13 | 300055 |
MECP2 | 100 | 0.99 | 0.94 | Rett syndrome, | 312750 |
MECP2 | 100 | 0.99 | 0.94 | Rett syndrome, atypical, | 312750 |
MECP2 | 100 | 0.99 | 0.94 | Rett syndrome, preserved speech variant, | 312750 |
MECP2 | 100 | 0.99 | 0.94 | {Autism susceptibility, X-linked 3}, | 300496 |
MICU1 | 140 | 0.95 | 0.91 | Myopathy with extrapyramidal signs, | 615673 |
MMADHC | 82.8 | 0.87 | 0.74 | Homocystinuria, cblD type, variant 1 | 277410 |
MMADHC | 82.8 | 0.87 | 0.74 | Methylmalonic aciduria and homocystinuria, cblD type, | 277410 |
MMADHC | 82.8 | 0.87 | 0.74 | Methylmalonic aciduria, cblD type, variant 2 | 277410 |
MRE11A | 57.6 | 0.95 | 0.85 | Ataxia-telangiectasia-like disorder, | 604391 |
MTHFR | 153.2 | 1 | 0.99 | Homocystinuria due to MTHFR deficiency, | 236250 |
MTHFR | 153.2 | 1 | 0.99 | {Neural tube defects, susceptibility to}, | 601634 |
MTHFR | 153.2 | 1 | 0.99 | {Schizophrenia, susceptibility to}, | 181500 |
MTHFR | 153.2 | 1 | 0.99 | {Thromboembolism, susceptibility to}, | 188050 |
MTHFR | 153.2 | 1 | 0.99 | {Vascular disease, susceptibility to} | 188050 |
MTPAP | 133 | 0.98 | 0.93 | Ataxia, spastic, 4 | 613672 |
MTTP | 155.8 | 0.99 | 0.98 | Abetalipoproteinemia, | 200100 |
MTTP | 155.8 | 0.99 | 0.98 | {Metabolic syndrome, protection against}, | 605552 |
NIPA1 | 173.4 | 0.99 | 0.99 | Spastic paraplegia 6 autosomal dominant, | 600363 |
NKX2-1 | 55.6 | 0.98 | 0.93 | Chorea, hereditary benign, | 118700 |
NKX2-1 | 55.6 | 0.98 | 0.93 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress, | 610978 |
NKX2-1 | 55.6 | 0.98 | 0.93 | {Thyroid cancer, monmedullary, 1}, | 188550 |
NOL3 | 95 | 0.94 | 0.87 | Myoclonus, familial cortical, | 614937 |
NPC1 | 162.1 | 0.99 | 0.98 | Niemann-Pick disease, type C1, | 257220 |
NPC1 | 162.1 | 0.99 | 0.98 | Niemann-Pick disease, type D, | 257220 |
NPC1 | 162.1 | 0.99 | 0.98 | {Nasopharyngeal carcinoma 1} | 257220 |
NPC2 | 144 | 1 | 0.99 | Niemann-pick disease, type C2, | 607625 |
NUP62 | 126.9 | 0.99 | 0.99 | Striatonigral degeneration, infantile, | 271930 |
OPA1 | 135.3 | 0.98 | 0.91 | Behr syndrome, | 210000 |
OPA1 | 135.3 | 0.98 | 0.91 | Optic atrophy 1 | 165500 |
OPA1 | 135.3 | 0.98 | 0.91 | Optic atrophy plus syndrome, | 125250 |
OPA1 | 135.3 | 0.98 | 0.91 | ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), | 616896 |
OPA1 | 135.3 | 0.98 | 0.91 | {Glaucoma, normal tension, susceptibility to}, | 606657 |
PANK2 | 177.5 | 0.99 | 0.96 | HARP syndrome, | 607236 |
PANK2 | 177.5 | 0.99 | 0.96 | Neurodegeneration with brain iron accumulation 1 | 234200 |
PAX6 | 156.1 | 1 | 0.99 | Aniridia, | 106210 |
PAX6 | 156.1 | 1 | 0.99 | Cataract with late-onset corneal dystrophy, | 106210 |
PAX6 | 156.1 | 1 | 0.99 | Coloboma of optic nerve, | 120430 |
PAX6 | 156.1 | 1 | 0.99 | Coloboma, ocular, | 120200 |
PAX6 | 156.1 | 1 | 0.99 | Foveal hypoplasia 1 | 136520 |
PAX6 | 156.1 | 1 | 0.99 | Keratitis, | 148190 |
PAX6 | 156.1 | 1 | 0.99 | Optic nerve hypoplasia, | 165550 |
PAX6 | 156.1 | 1 | 0.99 | Peters anomaly, | 604229 |
PAX6 | 156.1 | 1 | 0.99 | ?Morning glory disc anomaly, | 120430 |
PDE10A | 160.6 | 0.99 | 0.99 | Dyskinesia,limb and orofacial,infantile-onset, | 616921 |
PDE10A | 160.6 | 0.99 | 0.99 | Striatal degeneration,autosomal dominant, | 616922 |
PDE8B | 121.8 | 0.99 | 0.98 | Pigmented nodular adrenocortical disease, primary, 3 | 614190 |
PDE8B | 121.8 | 0.99 | 0.98 | Striatal degeneration, autosomal dominant, | 609161 |
PDGFB | 107.8 | 1 | 0.99 | Basal ganglia calcification, idiopathic, 5 | 615483 |
PDGFB | 107.8 | 1 | 0.99 | Dermatofibrosarcoma protuberans, | 607907 |
PDGFB | 107.8 | 1 | 0.99 | Meningioma, SIS-related, | 607174 |
PDGFRB | 166.4 | 0.99 | 0.97 | Basal ganglia calcification, idiopathic, 4 | 615007 |
PDGFRB | 166.4 | 0.99 | 0.97 | Kosaki overgrowth syndrome, | 616592 |
PDGFRB | 166.4 | 0.99 | 0.97 | Myeloproliferative disorder with eosinophilia, | 131440 |
PDGFRB | 166.4 | 0.99 | 0.97 | Myofibromatosis, infantile, 1 | 228550 |
PDGFRB | 166.4 | 0.99 | 0.97 | Premature aging syndrome, Penttinen type, | 601812 |
PDHA1 | 127.8 | 0.97 | 0.92 | Pyruvate dehydrogenase E1-alpha deficiency, | 312170 |
PDHX | 136.1 | 0.98 | 0.96 | Lacticacidemia due to PDX1 deficiency, | 245349 |
PDSS1 | 134.8 | 0.91 | 0.85 | Coenzyme Q10 deficiency, primary, 2 | 614651 |
PDSS2 | 131.3 | 0.97 | 0.93 | Coenzyme Q10 deficiency, primary, 3 | 614652 |
PDYN | 121.7 | 1 | 1 | Spinocerebellar ataxia 23 | 610245 |
PEX10 | 118.3 | 0.97 | 0.93 | Peroxisome biogenesis disorder 6A (Zellweger), | 614870 |
PEX10 | 118.3 | 0.97 | 0.93 | Peroxisome biogenesis disorder 6B, | 614871 |
PEX7 | 138.5 | 0.89 | 0.85 | Peroxisome biogenesis disorder 9B, | 614879 |
PEX7 | 138.5 | 0.89 | 0.85 | Rhizomelic chondrodysplasia punctata, type 1 | 215100 |
PHYH | 86.5 | 0.98 | 0.92 | Refsum disease, | 266500 |
PIK3R5 | 123.1 | 1 | 0.99 | Ataxia-oculomotor apraxia 3 | 615217 |
PLA2G6 | 132.4 | 0.99 | 0.98 | Infantile neuroaxonal dystrophy 1 | 256600 |
PLA2G6 | 132.4 | 0.99 | 0.98 | Neurodegeneration with brain iron accumulation 2B, | 610217 |
PLA2G6 | 132.4 | 0.99 | 0.98 | Parkinson disease 14 autosomal recessive, | 612953 |
PLP1 | 162.1 | 1 | 0.99 | Pelizaeus-Merzbacher disease, | 312080 |
PLP1 | 162.1 | 1 | 0.99 | Spastic paraplegia 2 X-linked, | 312920 |
PMM2 | 178.4 | 0.99 | 0.99 | Congenital disorder of glycosylation, type Ia, | 212065 |
PNKD | 107.7 | 0.99 | 0.98 | Paroxysmal nonkinesigenic dyskinesia, | 118800 |
PNKP | 98.4 | 0.99 | 0.97 | Ataxia-oculomotor apraxia 4 | 616267 |
PNKP | 98.4 | 0.99 | 0.97 | Microcephaly, seizures, and developmental delay, | 613402 |
PNPLA6 | 140.9 | 0.99 | 0.98 | Boucher-Neuhauser syndrome, | 215470 |
PNPLA6 | 140.9 | 0.99 | 0.98 | Oliver-McFarlane syndrome, | 275400 |
PNPLA6 | 140.9 | 0.99 | 0.98 | Spastic paraplegia 39 autosomal recessive, | 612020 |
PNPLA6 | 140.9 | 0.99 | 0.98 | ?Laurence-Moon syndrome, | 245800 |
POLG | 126.2 | 0.99 | 0.99 | Mitochondrial DNA depletion syndrome 4A (Alpers type), | 203700 |
POLG | 126.2 | 0.99 | 0.99 | Mitochondrial DNA depletion syndrome 4B (MNGIE type), | 613662 |
POLG | 126.2 | 0.99 | 0.99 | Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), | 607459 |
POLG | 126.2 | 0.99 | 0.99 | Progressive external ophthalmoplegia, autosomal dominant 1 | 157640 |
POLG | 126.2 | 0.99 | 0.99 | Progressive external ophthalmoplegia, autosomal recessive 1 | 258450 |
POLR3A | 162.2 | 1 | 0.99 | Leukodystrophy, hypomyelinating, 7 with or without oligodontia and/or hypogonadotropic | 258450 |
POLR3A | 162.2 | 1 | 0.99 | hypogonadism, | 607694 |
POLR3B | 168.9 | 0.99 | 0.98 | Leukodystrophy, hypomyelinating, 8 with or without oligodontia and/or hypogonadotropic | 607694 |
POLR3B | 168.9 | 0.99 | 0.98 | hypogonadism, | 614381 |
PRKCG | 127.5 | 0.97 | 0.93 | Spinocerebellar ataxia 14 | 605361 |
PRKRA | 161.3 | 0.99 | 0.99 | Dystonia 16 | 612067 |
PRRT2 | 80.7 | 0.99 | 0.98 | Convulsions, familial infantile, with paroxysmal choreoathetosis, | 602066 |
PRRT2 | 80.7 | 0.99 | 0.98 | Episodic kinesigenic dyskinesia 1 | 128200 |
PRRT2 | 80.7 | 0.99 | 0.98 | Seizures, benign familial infantile, 2 | 605751 |
PYCR2 | 137.6 | 0.99 | 0.98 | Leukodystrophy, hypomyelinating, 10 | 616420 |
REEP1 | 113.8 | 0.98 | 0.96 | Spastic paraplegia 31 autosomal dominant, | 610250 |
REEP1 | 113.8 | 0.98 | 0.96 | ?Neuronopathy, distal hereditary motor, type VB, | 614751 |
RNASEH2A | 149.3 | 1 | 0.99 | Aicardi-Goutieres syndrome 4 | 610333 |
RNASEH2B | 125.1 | 0.94 | 0.84 | Aicardi-Goutieres syndrome 2 | 610181 |
RNASEH2C | 207.6 | 0.99 | 0.97 | Aicardi-Goutieres syndrome 3 | 610329 |
RNF170 | 149.4 | 0.98 | 0.93 | Ataxia, sensory, 1 autosomal dominant, | 608984 |
RNF216 | 154.3 | 0.99 | 0.98 | Cerebellar ataxia and hypogonadotropic hypogonadism, | 212840 |
RTN2 | 113.2 | 0.98 | 0.95 | Spastic paraplegia 12 autosomal dominant, | 604805 |
SACS | 170.8 | 1 | 0.99 | Spastic ataxia, Charlevoix-Saguenay type, | 270550 |
SAMHD1 | 149.9 | 0.99 | 0.98 | Aicardi-Goutieres syndrome 5 | 612952 |
SAMHD1 | 149.9 | 0.99 | 0.98 | ?Chilblain lupus 2 | 614415 |
SCN8A | 224.3 | 0.99 | 0.99 | Epileptic encephalopathy, early infantile, 13 | 614558 |
SCN8A | 224.3 | 0.99 | 0.99 | ?Cognitive impairment with or without cerebellar ataxia, | 614306 |
SERAC1 | 125.5 | 0.98 | 0.94 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, | 614739 |
SETX | 187.1 | 0.99 | 0.99 | Amyotrophic lateral sclerosis 4 juvenile, | 602433 |
SETX | 187.1 | 0.99 | 0.99 | Spinocerebellar ataxia, autosomal recessive 1 | 606002 |
SGCE | 95.4 | 0.94 | 0.89 | Dystonia-11, myoclonic, | 159900 |
SIL1 | 173.8 | 0.99 | 0.98 | Marinesco-Sjogren syndrome, | 248800 |
SLC12A6 | 169.6 | 1 | 0.99 | Agenesis of the corpus callosum with peripheral neuropathy, | 218000 |
SLC16A2 | 69.6 | 0.96 | 0.86 | Allan-Herndon-Dudley syndrome, | 300523 |
SLC19A3 | 191.3 | 1 | 1 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), | 300523 |
SLC19A3 | 191.3 | 1 | 1 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), | 607483 |
SLC1A3 | 153.6 | 1 | 1 | Episodic ataxia, type 6 | 612656 |
SLC20A2 | 122.2 | 0.99 | 0.95 | Basal ganglia calcification, idiopathic, 1 | 213600 |
SLC25A15 | 228.7 | 0.98 | 0.95 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, | 238970 |
SLC2A1 | 183.5 | 1 | 1 | Dystonia 9 | 601042 |
SLC2A1 | 183.5 | 1 | 1 | GLUT1 deficiency syndrome 1 infantile onset, severe, | 606777 |
SLC2A1 | 183.5 | 1 | 1 | GLUT1 deficiency syndrome 2 childhood onset, | 612126 |
SLC2A1 | 183.5 | 1 | 1 | Stomatin-deficient cryohydrocytosis with neurologic defects, | 608885 |
SLC2A1 | 183.5 | 1 | 1 | {Epilepsy, idiopathic generalized, susceptibility to, 12}, | 614847 |
SLC30A10 | 192.1 | 0.99 | 0.99 | Hypermanganesemia with dystonia 1 | 613280 |
SLC33A1 | 148.5 | 0.96 | 0.89 | Congenital cataracts, hearing loss, and neurodegeneration, | 614482 |
SLC33A1 | 148.5 | 0.96 | 0.89 | Spastic paraplegia 42 autosomal dominant, | 612539 |
SLC39A14 | 122.3 | 0.99 | 0.98 | Hypermanganesemia with dystonia 2 | 617013 |
SLC52A2 | 196.4 | 1 | 1 | Brown-Vialetto-Van Laere syndrome 2 | 614707 |
SLC52A3 | 124.5 | 1 | 0.99 | Brown-Vialetto-Van Laere syndrome 1 | 211530 |
SLC52A3 | 124.5 | 1 | 0.99 | Fazio-Londe disease, | 211500 |
SLC6A3 | 153.5 | 1 | 0.99 | Parkinsonism-dystonia, infantile, | 613135 |
SLC6A3 | 153.5 | 1 | 0.99 | {Nicotine dependence, protection against}, | 188890 |
SLC9A1 | 169.6 | 1 | 1 | ?Lichtenstein-Knorr syndrome, | 616291 |
SMPD1 | 134.3 | 0.99 | 0.97 | Niemann-Pick disease, type A, | 257200 |
SMPD1 | 134.3 | 0.99 | 0.97 | Niemann-Pick disease, type B, | 607616 |
SNCA | 150 | 1 | 1 | Dementia, Lewy body, | 127750 |
SNCA | 150 | 1 | 1 | Parkinson disease 1 | 168601 |
SNCA | 150 | 1 | 1 | Parkinson disease 4 | 605543 |
SNX14 | 76.2 | 0.92 | 0.82 | Spinocerebellar ataxia, autosomal recessive 20 | 616354 |
SPAST | 71.8 | 0.93 | 0.82 | Spastic paraplegia 4 autosomal dominant, | 182601 |
SPG11 | 146.9 | 0.98 | 0.96 | Amyotrophic lateral sclerosis 5 juvenile, | 602099 |
SPG11 | 146.9 | 0.98 | 0.96 | Charcot-Marie-Tooth disease, axonal, type 2X, | 616668 |
SPG11 | 146.9 | 0.98 | 0.96 | Spastic paraplegia 11 autosomal recessive, | 604360 |
SPG20 | 166.4 | 0.99 | 0.97 | Troyer syndrome, | 275900 |
SPG21 | 146.1 | 0.99 | 0.96 | Mast syndrome, | 248900 |
SPG7 | 127.9 | 0.96 | 0.92 | Spastic paraplegia 7 autosomal recessive, | 607259 |
SPR | 183.9 | 0.97 | 0.89 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, | 612716 |
SPTBN2 | 122.1 | 0.99 | 0.99 | Spinocerebellar ataxia 5 | 600224 |
SPTBN2 | 122.1 | 0.99 | 0.99 | Spinocerebellar ataxia, autosomal recessive 14 | 615386 |
STUB1 | 174 | 0.99 | 0.99 | Spinocerebellar ataxia, autosomal recessive 16 | 615768 |
SUOX | 219.5 | 1 | 1 | Sulfite oxidase deficiency, | 272300 |
SYNE1 | 156.8 | 0.99 | 0.99 | Emery-Dreifuss muscular dystrophy 4 autosomal dominant, | 612998 |
SYNE1 | 156.8 | 0.99 | 0.99 | Spinocerebellar ataxia, autosomal recessive 8 | 610743 |
TAF1 | 141.1 | 0.99 | 0.97 | Dystonia-Parkinsonism, X-linked, | 314250 |
TAF1 | 141.1 | 0.99 | 0.97 | Mental retardation, X-linked, syndromic 33 | 300966 |
TDP1 | 132 | 0.98 | 0.95 | Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, | 607250 |
TECPR2 | 165.7 | 1 | 0.99 | Spastic paraplegia 49 autosomal recessive, | 615031 |
TGM6 | 153.7 | 0.99 | 0.97 | Spinocerebellar ataxia 35 | 613908 |
TH | 83.6 | 0.97 | 0.92 | Segawa syndrome, recessive, | 605407 |
THAP1 | 152.3 | 1 | 1 | Dystonia 6 torsion, | 602629 |
TIMM8A | 45.5 | 0.87 | 0.7 | Jensen syndrome, | 311150 |
TIMM8A | 45.5 | 0.87 | 0.7 | Mohr-Tranebjaerg syndrome, | 304700 |
TMEM240 | 130.5 | 1 | 0.99 | Spinocerebellar ataxia 21 | 607454 |
TMEM67 | 78.9 | 0.92 | 0.83 | COACH syndrome, | 216360 |
TMEM67 | 78.9 | 0.92 | 0.83 | Joubert syndrome 6 | 610688 |
TMEM67 | 78.9 | 0.92 | 0.83 | Meckel syndrome 3 | 607361 |
TMEM67 | 78.9 | 0.92 | 0.83 | Nephronophthisis 11 | 613550 |
TMEM67 | 78.9 | 0.92 | 0.83 | {Bardet-Biedl syndrome 14 modifier of}, | 615991 |
TOR1A | 233.5 | 1 | 0.99 | Dystonia-1, torsion, | 128100 |
TOR1A | 233.5 | 1 | 0.99 | {Dystonia-1, modifier of} | 128100 |
TPP1 | 158.7 | 1 | 1 | Ceroid lipofuscinosis, neuronal, 2 | 204500 |
TPP1 | 158.7 | 1 | 1 | Spinocerebellar ataxia, autosomal recessive 7 | 609270 |
TREM2 | 134.3 | 0.99 | 0.98 | Nasu-Hakola disease, | 221770 |
TREX1 | 272.2 | 1 | 1 | Aicardi-Goutieres syndrome 1 dominant and recessive, | 225750 |
TREX1 | 272.2 | 1 | 1 | Chilblain lupus, | 610448 |
TREX1 | 272.2 | 1 | 1 | Vasculopathy, retinal, with cerebral leukodystrophy, | 192315 |
TREX1 | 272.2 | 1 | 1 | {Systemic lupus erythematosus, susceptibility to}, | 152700 |
TTBK2 | 169.4 | 1 | 0.99 | Spinocerebellar ataxia 11 | 604432 |
TTC19 | 106.2 | 0.9 | 0.81 | Mitochondrial complex III deficiency, nuclear type 2 | 615157 |
TTPA | 122.7 | 0.93 | 0.84 | Ataxia with isolated vitamin E deficiency, | 277460 |
TUBB4A | 137 | 0.96 | 0.95 | Dystonia 4 torsion, autosomal dominant, | 128101 |
TUBB4A | 137 | 0.96 | 0.95 | Leukodystrophy, hypomyelinating, 6 | 612438 |
TUBG1 | 185.9 | 1 | 1 | Cortical dysplasia, complex, with other brain malformations 4 | 615412 |
TYROBP | 95.1 | 1 | 1 | Nasu-Hakola disease, | 221770 |
VAMP1 | 156.3 | 1 | 1 | Spastic ataxia 1 autosomal dominant, | 108600 |
VCP | 168.4 | 0.99 | 0.99 | Amyotrophic lateral sclerosis 14 with or without frontotemporal dementia, | 613954 |
VCP | 168.4 | 0.99 | 0.99 | Charcot-Marie-Tooth disease, type 2Y, | 616687 |
VCP | 168.4 | 0.99 | 0.99 | Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 | 167320 |
VLDLR | 244.5 | 1 | 0.99 | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 | 224050 |
VPS13A | 81 | 0.93 | 0.84 | Choreoacanthocytosis, | 200150 |
VPS37A | 79.7 | 0.86 | 0.69 | Spastic paraplegia 53 autosomal recessive, | 614898 |
VRK1 | 147 | 0.98 | 0.95 | Pontocerebellar hypoplasia type 1A, | 607596 |
WDR45 | 92.9 | 0.97 | 0.92 | Neurodegeneration with brain iron accululation 5 | 300894 |
WDR81 | 171.3 | 0.99 | 0.99 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | 610185 |
WWOX | 148 | 1 | 0.99 | Epileptic encephalopathy, early infantile, 28 | 616211 |
WWOX | 148 | 1 | 0.99 | Esophageal squamous cell carcinoma, somatic, | 133239 |
WWOX | 148 | 1 | 0.99 | Spinocrebellar ataxia, autosomal recessive 12 | 614322 |
XPR1 | 155.9 | 0.99 | 0.99 | Basal ganglia calcification, idiopathic, 6 | 616413 |
ZFYVE26 | 134.1 | 0.99 | 0.99 | Spastic paraplegia 15 autosomal recessive, | 270700 |
ZFYVE27 | 137.1 | 1 | 1 | Spastic paraplegia 33 autosomal dominant, | 610244 |
ZNF592 | 140.6 | 1 | 0.99 | No OMIM phenotype | 610244 |