Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ADAR gene ADAR Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal dystonia;Aicardi-Goutieres syndrome 6, 615010 23001123;28139822 False 3 0;0;0 1.14 False ENSG00000160710 ENSG00000160710 HGNC:225 ADCY5 gene ADCY5 Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted dystonia;Familial dyskinesia 606703;Dyskinesia, familial, with facial myokymia, 606703 11310626;24700542 False 3 0;0;0 1.14 False ENSG00000173175 ENSG00000173175 HGNC:236 ANO3 gene ANO3 Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown familial form of cranio-cervical dystonia;Dystonia 24, 615034 27392807;24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor;24442708;25847575;24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis;23200863 False 3 0;0;0 1.14 False ENSG00000134343 ENSG00000134343 HGNC:14004 AP1S2 gene AP1S2 Expert Review Green Dystonia - childhood onset X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic 5 304340;Dystonia 17617514;18428203;23756445 False 3 0;0;0 1.14 False ENSG00000182287 ENSG00000182287 HGNC:560 APTX gene APTX Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Dystonia False 3 0;0;0 1.14 False ENSG00000137074 ENSG00000137074 HGNC:15984 ATM gene ATM Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Dystonia;Ataxia telangiectasia False 3 0;0;0 1.14 False ENSG00000149311 ENSG00000149311 HGNC:795 ATP13A2 gene ATP13A2 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Parkinson disease;Kufor-Rakeb syndrome 606693;Dystonia 21060012 False 3 0;0;0 1.14 False ENSG00000159363 ENSG00000159363 HGNC:30213 ATP1A2 gene ATP1A2 Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted familial basilar migraine 602481;familial hemiplegic migraine type 2, 602481;migraine;alternating hemiplegia of childhood 104290;Dystonia 12539047;12953268;18056581 False 3 0;0;0 1.14 False ENSG00000018625 ENSG00000018625 HGNC:800 ATP1A3 gene ATP1A3 Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia-12, 128235;DYSTONIA 12, 128235;ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820;Rapid-Onset Dystonia-Parkinsonism 22842232;20301334;22850527 False 3 0;0;0 1.14 False ENSG00000105409 ENSG00000105409 HGNC:801 ATP7B gene ATP7B Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Wilson disease 277900;Dystonia 20301685 False 3 0;0;0 1.14 False ENSG00000123191 ENSG00000123191 HGNC:870 BCAP31 gene BCAP31 Expert Review Green Dystonia - childhood onset X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, dystonia and cerebellar hypomyelination, 300475;DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS 28332767;24011989 False 3 0;0;0 1.14 False ENSG00000185825 ENSG00000185825 HGNC:16695 BCS1L gene BCS1L Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Bjornstad syndrome, 262000;Leigh syndrome, 256000;Mitochondrial complex III deficiency, nuclear type 1, 124000 False 3 0;0;0 1.14 False ENSG00000074582 ENSG00000074582 HGNC:1020 C19orf12 gene C19orf12 Expert Review Green Dystonia - childhood onset BOTH monoallelic and biallelic, autosomal or pseudoautosomal neurodegeneration with brain iron accumulation-4;mitochondrial membrane protein-associated neurodegeneration;Dystonia False 3 0;0;0 1.14 False ENSG00000131943 ENSG00000131943 HGNC:25443 CACNA1A gene CACNA1A Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted episodic ataxia type 2 (EA2), 108500;Dystonia;familial hemiplegic migraine type 1, 141500 17575281;21734179 False 3 0;0;0 1.14 False ENSG00000141837 ENSG00000141837 HGNC:1388 CACNB4 gene CACNB4 Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9;EPISODIC ATAXIA, TYPE 5 10762541 False 3 0;0;0 1.14 False ENSG00000182389 ENSG00000182389 HGNC:1404 CHMP2B gene CHMP2B Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown familial frontotemporal lobar degeneration (ALS17);Dystonia;Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 False 3 0;0;0 1.14 False ENSG00000083937 ENSG00000083937 HGNC:24537 COASY gene COASY Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal COASY protein-associated neurodegeneration;Neurodegeneration with brain iron accumulation 6 615643 24360804;27021474 False 3 0;0;0 1.14 False ENSG00000068120 ENSG00000068120 HGNC:29932 COX10 gene COX10 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial COX4 deficiency, 256000;Mitochondrial complex IV deficiency, 220110 10767350 False 3 0;0;0 1.14 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX15 gene COX15 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 False 3 0;0;0 1.14 False ENSG00000014919 ENSG00000014919 HGNC:2263 CP gene CP Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia 604290;Aceruloplasminemia;[Hypoceruloplasminemia, hereditary] 604290;Dystonia;Hemosiderosis, systemic, due to aceruloplasminemia 604290 False 3 0;0;0 1.14 False ENSG00000047457 ENSG00000047457 HGNC:2295 CSTB gene CSTB Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800;Unverricht-Lundborg syndrome MONDO:0009698 26843564 False 3 0;0;0 1.14 False ENSG00000160213 ENSG00000160213 HGNC:2482 DBH gene DBH Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Dopamine beta-hydroxylase deficiency, 223360 27604308;27778639;27830117 False 3 0;0;0 1.14 False ENSG00000123454 ENSG00000123454 HGNC:2689 DCAF17 gene DCAF17 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Woodhouse-Sakati syndrome;Dystonia False 3 0;0;0 1.14 False ENSG00000115827 ENSG00000115827 HGNC:25784 DDC gene DDC Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency, 608643;Dystonia 27604308;24816252;27830117 False 3 0;0;0 1.14 False ENSG00000132437 ENSG00000132437 HGNC:2719 DHFR gene DHFR Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839;Dihydrofolate reductase deficiency 27604308;21310277;21310276;27830117 False 3 0;0;0 1.14 False ENSG00000228716 ENSG00000228716 HGNC:2861 DLAT gene DLAT Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Dystonia;Pyruvate dehydrogenase E2 deficiency 245348 16049940;19891062 False 3 0;0;0 1.14 False ENSG00000150768 ENSG00000150768 HGNC:2896 DNAJC12 gene DNAJC12 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 28132689 False 3 0;0;0 1.14 False ENSG00000108176 ENSG00000108176 HGNC:28908 ETHE1 gene ETHE1 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Ethylmalonic encephalopathy 602473 False 3 0;0;0 1.14 False ENSG00000105755 ENSG00000105755 HGNC:23287 FA2H gene FA2H Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal fatty acid hydroxylase-associated neurodegeneration;Spastic paraplegia 35, autosomal recessive 612319;Dystonia 19068277 False 3 0;0;0 1.14 False ENSG00000103089 ENSG00000103089 HGNC:21197 FBXO7 gene FBXO7 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Dystonia;juvenile parkinsonism False 3 0;0;0 1.14 False ENSG00000100225 ENSG00000100225 HGNC:13586 FOLR1 gene FOLR1 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, 613068;Folate receptor alpha deficiency 19732866;21937992;2044715;27830117 False 3 0;0;0 1.14 False ENSG00000110195 ENSG00000110195 HGNC:3791 FOXP2 gene FOXP2 Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Speech-language disorder-1 602081 22434823;11586359;15877281 False 3 0;0;0 1.14 False ENSG00000128573 ENSG00000128573 HGNC:13875 FTL gene FTL Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration with brain iron accumulation 3 606159 False 3 0;0;0 1.14 False ENSG00000087086 ENSG00000087086 HGNC:3999 GCDH gene GCDH Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Dystonia 8900228;8900227;10699052;11174631;7795610 False 3 0;0;0 1.14 False ENSG00000105607 ENSG00000105607 HGNC:4189 GCH1 gene GCH1 Expert Review Green Dystonia - childhood onset BOTH monoallelic and biallelic, autosomal or pseudoautosomal GTP-cyclohydrolase deficiency;Hyperphenylalaninemia, BH4-deficient, B, 233910;Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230;Dopa-Responsive Dystonia (DRD) 20301681;15753436;12552057;10732814;2296384;11346370;3041760;9667588;8163996;7874165;7730309;3762960;6734669;20301334;11113234;3400489;3822637;10208576;16908750;1899474;10987649;945938;7869202;12084887;27830117;942621;17111153 False 3 0;0;0 1.14 False ENSG00000131979 ENSG00000131979 HGNC:4193 GLRA1 gene GLRA1 Expert Review Green Dystonia - childhood onset BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia, hereditary 1, 149400 20301437 False 3 0;0;0 1.14 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLRB gene GLRB Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 2, 614619 23238346;11929858;21391991 False 3 0;0;0 1.14 False ENSG00000109738 ENSG00000109738 HGNC:4329 GNAO1 gene GNAO1 Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with involuntary movements, 617493 27068059;27625011;26060304;25966631;28357411 False 3 0;0;0 1.14 False ENSG00000087258 ENSG00000087258 HGNC:4389 HIBCH gene HIBCH Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal 3-hydroxyisobutryl-CoA hydrolase deficiency 250620 False 3 0;0;0 1.14 False ENSG00000198130 ENSG00000198130 HGNC:4908 HPCA gene HPCA Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Dystonia 2, torsion, autosomal recessive, 224500;generalized dystonia with additional neurological features;childhood-onset generalized dystonia;adolescence-onset segmental dystonia 30145809;25799108 False 3 0;0;0 1.14 False ENSG00000121905 ENSG00000121905 HGNC:5144 HTRA2 gene HTRA2 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIII 617248 27696117;27208207 False 3 0;0;0 1.14 False ENSG00000115317 ENSG00000115317 HGNC:14348 IFIH1 gene IFIH1 Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aicardi-Goutieres syndrome 7 615846 False 3 0;0;0 1.14 False ENSG00000115267 ENSG00000115267 HGNC:18873 ISG15 gene ISG15 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 38 616126 25307056;22859821 False 3 0;0;0 1.14 False ENSG00000187608 ENSG00000187608 HGNC:4053 IVD gene IVD Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Isovaleric acidemia 243500 False 3 0;0;0 1.14 False ENSG00000128928 ENSG00000128928 HGNC:6186 KCNA1 gene KCNA1 Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPISODIC ATAXIA, TYPE 1;myokymia with periodic ataxia 17575281 False 3 0;0;0 1.14 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNQ2 gene KCNQ2 Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myokymia, 121200;Dystonia False 3 0;0;0 1.14 False ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ3 gene KCNQ3 Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Seizures, benign neonatal, type 2, 121201 False 3 0;0;0 1.14 False ENSG00000184156 ENSG00000184156 HGNC:6297 KMT2B gene KMT2B Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 28, childhood-onset 617284;early-onset dystonia 27992417 False 3 0;0;0 1.14 False ENSG00000272333 ENSG00000272333 HGNC:15840 MAOA gene MAOA Expert Review Green Dystonia - childhood onset X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Brunner syndrome, 300615;Monoamine oxidase A deficiency 8211186;27830117;24169519 False 3 0;0;0 1.14 False ENSG00000189221 ENSG00000189221 HGNC:6833 MECR gene MECR Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 27817865 False 3 0;0;0 1.14 False ENSG00000116353 ENSG00000116353 HGNC:19691 MT-ATP6 gene MT-ATP6 Expert Review Green Dystonia - childhood onset MITOCHONDRIAL 1550128;11916326 False 3 0;0;0 1.14 False ENSG00000198899 ENSG00000198899 HGNC:7414 MT-ND1 gene MT-ND1 Expert Review Green Dystonia - childhood onset MITOCHONDRIAL False 3 0;0;0 1.14 False ENSG00000198888 ENSG00000198888 HGNC:7455 MT-ND6 gene MT-ND6 Expert Review Green Dystonia - childhood onset MITOCHONDRIAL Leber Optic Atrophy And Dystonia False 3 0;0;0 1.14 False ENSG00000198695 ENSG00000198695 HGNC:7462 MUT gene MUT Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, mut(0) type 251000 False 3 0;0;0 1.14 False ENSG00000146085 ENSG00000146085 HGNC:7526 NDUFA1 gene NDUFA1 Expert Review Green Dystonia - childhood onset X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mitochondrial complex I deficiency 252010 27604308;28247337;17262856;19185523;21596602 False 3 0;0;0 1.14 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Leigh syndrome 256000 21150889;28247337;26741492 False 3 0;0;0 1.14 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFAF2 gene NDUFAF2 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 10, 618233 16200211;20571988;20818383 False 3 0;0;0 1.14 False ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF6 gene NDUFAF6 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency 256000 18614015;27623250;26741492 False 3 0;0;0 1.14 False ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFS4 gene NDUFS4 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010;Leigh syndrome 256000 24020637 False 3 0;0;0 1.14 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS7 gene NDUFS7 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 3, 618224 False 3 0;0;0 1.14 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 2, 618222 False 3 0;0;0 1.14 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010 10080174;26345448 False 3 0;0;0 1.14 False ENSG00000167792 ENSG00000167792 HGNC:7716 NKX6-2 gene NKX6-2 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 15601927;28575651 False 3 0;0;0 1.14 False ENSG00000148826 ENSG00000148826 HGNC:19321 OCLN gene OCLN Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Band-like calcification with simplified gyration and polymicrogyria 251290 20727516 False 3 0;0;0 1.14 False ENSG00000197822 ENSG00000197822 HGNC:8104 PANK2 gene PANK2 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal pantothenate kinase-associated neurodegeneration;Dystonia False 3 0;0;0 1.14 False ENSG00000125779 ENSG00000125779 HGNC:15894 PCCA gene PCCA Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Propionicacidemia 606054 6790853;15235904 False 3 0;0;0 1.14 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Propionicacidemia 606054 False 3 0;0;0 1.14 False ENSG00000114054 ENSG00000114054 HGNC:8654 PDE10A gene PDE10A Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Striatal degeneration, autosomal dominant 616922;Dyskinesia, limb and orofacial, infantile-onset 616921 27058447;27058446 False 3 0;0;0 1.14 False ENSG00000112541 ENSG00000112541 HGNC:8772 PDGFB gene PDGFB Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 5 615483 26129893 False 3 0;0;0 1.14 False ENSG00000100311 ENSG00000100311 HGNC:8800 PDGFRB gene PDGFRB Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 4 615007;Dystonia 27984190;23255827;26129893;25292412 False 3 0;0;0 1.14 False ENSG00000113721 ENSG00000113721 HGNC:8804 PDHA1 gene PDHA1 Expert Review Green Dystonia - childhood onset X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Pyruvate dehydrogenase E1-alpha deficiency 312170 False 3 0;0;0 1.14 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDP1 gene PDP1 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase phosphatase deficiency, 608782 19184109;15855260 False 3 0;0;0 1.14 False ENSG00000164951 ENSG00000164951 HGNC:9279 PINK1 gene PINK1 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Parkinson disease 6, early onset;Dystonia False 3 0;0;0 1.14 False ENSG00000158828 ENSG00000158828 HGNC:14581 PLA2G6 gene PLA2G6 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal PLA2G6-associated neurodegeneration;Parkinson disease 14, autosomal recessive 612953;Neurodegeneration with brain iron accumulation 2B 610217;Infantile neuroaxonal dystrophy 1 256600 18799783;18570303;16783378 False 3 0;0;0 1.14 False ENSG00000184381 ENSG00000184381 HGNC:9039 PNKD gene PNKD Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial Paroxysmal Nonkinesigenic Dyskinesia;PAROXYSMAL NONKINESIGENIC DYSKINESIA 1;Paroxysmal nonkinesigenic dyskinesia, 118800 20301334;15262732;15496428;15824259 False 3 0;0;0 1.14 False ENSG00000127838 ENSG00000127838 HGNC:9153 PRKN gene PRKN Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal juvenile parkinsonism/dystonia;Dystonia;Parkinson disease, juvenile, type 2 False 3 0;0;0 1.14 False ENSG00000185345 ENSG00000185345 HGNC:8607 PRKRA gene PRKRA Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Dystonia 16, 612067;Dystonia;early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa 24142417;22842711;26990861;25737287;18420150;20301334;25142429;18243799;25914261 False 3 0;0;0 1.14 False ENSG00000180228 ENSG00000180228 HGNC:9438 PRNP gene PRNP Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral amyloid angiopathy, PRNP-related 137440;Huntington disease-like 1 603218;Gerstmann-Straussler disease 137440;Creutzfeldt-Jakob disease 123400 False 3 0;0;0 1.14 False ENSG00000171867 ENSG00000171867 HGNC:9449 PRRT2 gene PRRT2 Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions;episodic kinesigenic dyskinesia;CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS;SEIZURES, BENIGN FAMILIAL INFANTILE, 2;dystonia and occasionally hemiplegic migraine and epilepsy;Episodic kinesigenic dyskinesia 1, 128200 22744660;22101681;20301334;22120146;22399141 False 3 0;0;0 1.14 False ENSG00000167371 ENSG00000167371 HGNC:30500 PTS gene PTS Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal 6-Pyruvoyltetrahydropterin Synthase Deficiency;Hyperphenylalaninemia, BH4-deficient, A, 261640;Dystonia;6-Pyruvoyl-tetrahydropterin synthase deficiency 9450907;10220141;27604308;27830117;8178819 False 3 0;0;0 1.14 False ENSG00000150787 ENSG00000150787 HGNC:9689 QDPR gene QDPR Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, C, 261630;Dystonia;Dihydropteridine reductase deficiency 7627180;317358;10029353;27830117;11153907;27604308;11746132;2785251;16917893;49470;53532;2116088 False 3 0;0;0 1.14 False ENSG00000151552 ENSG00000151552 HGNC:9752 RAB39B gene RAB39B Expert Review Green Dystonia - childhood onset X-LINKED: hemizygous mutation in males, biallelic mutations in females Waisman syndrome 311510 27838047;27448726;27943471;25434005;26399558 False 3 0;0;0 1.14 False ENSG00000155961 ENSG00000155961 HGNC:16499 SCN1A gene SCN1A Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dravet syndrome;several epilepsy, convulsion and migraine disorders.;familial hemiplegic migraine 3 16054936;19332696 False 3 0;0;0 1.14 False ENSG00000144285 ENSG00000144285 HGNC:10585 SCN8A gene SCN8A Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted epilepsy;paroxysmal kinesigenic dyskinesias 26677014 False 3 0;0;0 1.14 False ENSG00000196876 ENSG00000196876 HGNC:10596 SDHA gene SDHA Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1GG, 613642;Leigh syndrome, 256000;Mitochondrial respiratory chain complex II deficiency, 252011 False 3 0;0;0 1.14 False ENSG00000073578 ENSG00000073578 HGNC:10680 SERAC1 gene SERAC1 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal MEGDEL syndrome;Dystonia;MEGDHEL syndrome;3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739;3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome;Lesions in the basal ganglia 27186703;28482397;27604308;28778788;29205472;22683713;16527507 False 3 0;0;0 1.14 False ENSG00000122335 ENSG00000122335 HGNC:21061 SGCE gene SGCE Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Myoclonus dystonia syndrome;Myoclonus-Dystonia;maternally imprinted Dystonia-11, myoclonic, 159900 20301334;12325078;11528394 False 3 0;0;0 1.14 False ENSG00000127990 ENSG00000127990 HGNC:10808 SLC18A2 gene SLC18A2 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism);Vesicular monoamine transporter deficiency 26497564;27830117;27604308;23363473;28477711;27520881;24398404;24018103 False 3 0;0;0 1.14 False ENSG00000165646 ENSG00000165646 HGNC:10935 SLC19A3 gene SLC19A3 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483;Dystonia False 3 0;0;0 1.14 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC1A3 gene SLC1A3 Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPISODIC ATAXIA, TYPE 6 27829685;16116111;19139306 False 3 0;0;0 1.14 False ENSG00000079215 ENSG00000079215 HGNC:10941 SLC20A2 gene SLC20A2 Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia;Basal ganglia calcification, idiopathic, 1 213600 False 3 0;0;0 1.14 False ENSG00000168575 ENSG00000168575 HGNC:10947 SLC25A19 gene SLC25A19 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710;Microcephaly, Amish type 607196 12185364;17035501;19798730 False 3 0;0;0 1.14 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC2A1 gene SLC2A1 Expert Review Green Dystonia - childhood onset BOTH monoallelic and biallelic, autosomal or pseudoautosomal EPILEPSY, IDIOPATHIC GENERALIZED;dystonia 9;GLUT1 deficiency syndrome 2;GLUT1 deficiency syndrome 2, childhood onset;Dystonia;GLUT1 deficiency syndrome 1, infantile onset, severe;GLUT1 deficiency syndrome 1, 606777;paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia 18451999;20301334;19630075;18577546 False 3 0;0;0 1.14 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC30A10 gene SLC30A10 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease;Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 22341971;22341972;22934317;22926781;25778823 False 3 0;0;0 1.14 False ENSG00000196660 ENSG00000196660 HGNC:25355 SLC39A14 gene SLC39A14 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 2 617013 27231142 False 3 0;0;0 1.14 False ENSG00000104635 ENSG00000104635 HGNC:20858 SLC6A3 gene SLC6A3 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal {Nicotine dependence, protection against}, 188890;Parkinsonism-dystonia, infantile, 613135;Dopamine transporter deficiency 21112253;24613933;27830117 False 3 0;0;0 1.14 False ENSG00000142319 ENSG00000142319 HGNC:11049 SLC6A5 gene SLC6A5 Expert Review Green Dystonia - childhood onset BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 3, 614618 16751771 False 3 0;0;0 1.14 False ENSG00000165970 ENSG00000165970 HGNC:11051 SPR gene SPR Expert Review Green Dystonia - childhood onset BOTH monoallelic and biallelic, autosomal or pseudoautosomal Sepiapterin reductase deficiency;Dopa-Responsive Dystonia;paediatric form of dopa responsive dystonia;Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties;Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 18502672;27830117;27604308;22522443;11443547;20301334;15241655 False 3 0;0;0 1.14 False ENSG00000116096 ENSG00000116096 HGNC:11257 SUCLA2 gene SUCLA2 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Dystonia False 3 0;0;0 1.14 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 False 3 0;0;0 1.14 False ENSG00000163541 ENSG00000163541 HGNC:11449 SURF1 gene SURF1 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4K, 616684;Leigh syndrome, due to COX IV deficiency, 256000 False 3 0;0;0 1.14 False ENSG00000148290 ENSG00000148290 HGNC:11474 SYNJ1 gene SYNJ1 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal juvenile Parkinsonism;Parkinson disease 20, early-onset 23804577;27496670;23804563 False 3 0;0;0 1.14 False ENSG00000159082 ENSG00000159082 HGNC:11503 TH gene TH Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Segawa syndrome;paediatric form of dopa responsive dystonia;Tyrosine Hydroxylase Deficiency;DOPA-responsive dystonia;Segawa syndrome, recessive, 605407 21937992;17696123;27830117;7814018;8528210;9732974;20301334;9703425;10585338;8817341;11246459 False 3 0;0;0 1.14 False ENSG00000180176 ENSG00000180176 HGNC:11782 THAP1 gene THAP1 Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 6, torsion, 602629;Dystonia 20301334 False 3 0;0;0 1.14 False ENSG00000131931 ENSG00000131931 HGNC:20856 TOR1A gene TOR1A Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia-1, torsion, 128100;Early-Onset Primary Dystonia;Autosomal dominant or sporadic dystonia (DYT1) 16537570;9288096;20301665;20301334;17503336;11523564 False 3 0;0;0 1.14 False ENSG00000136827 ENSG00000136827 HGNC:3098 TUBA1A gene TUBA1A Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 3 611603 False 3 0;0;0 1.14 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBB4A gene TUBB4A Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Dystonia 4, torsion, autosomal dominant, 128101;Dystonia;hereditary whispering dysphonia;Leukodystrophy, hypomyelinating, 6 612438 27809427;24526230;24850488;23582646 False 3 0;0;0 1.14 False ENSG00000104833 ENSG00000104833 HGNC:20774 VAC14 gene VAC14 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Striatonigral degeneration, childhood-onset 617054 19037259;17956977;27292112 False 3 0;0;0 1.14 False ENSG00000103043 ENSG00000103043 HGNC:25507 VPS13A gene VPS13A Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal complex parkinsonism;Choreoacanthocytosis 200150 11381253;11381254;14663054 False 3 0;0;0 1.14 False ENSG00000197969 ENSG00000197969 HGNC:1908 WDR45 gene WDR45 Expert Review Green Dystonia - childhood onset X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Neurodegeneration with brain iron accumulation 5 300894;Dystonia;beta-propeller protein-associated neurodegeneration 23435086;22892189;23176820 False 3 0;0;0 1.14 False ENSG00000196998 ENSG00000196998 HGNC:28912 WDR73 gene WDR73 Expert Review Green Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 1, 251300 False 3 0;0;0 1.14 False ENSG00000177082 ENSG00000177082 HGNC:25928 XPR1 gene XPR1 Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 6 616413 25938945 False 3 0;0;0 1.14 False ENSG00000143324 ENSG00000143324 HGNC:12827 YY1 gene YY1 Expert Review Green Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gabriele-de Vries syndrome 617557 28575647 False 3 0;0;0 1.14 False ENSG00000100811 ENSG00000100811 HGNC:12856 CIZ1 gene CIZ1 Expert Review Amber Dystonia - childhood onset Unknown Dystonia 23, 614860 False 2 0;0;0 1.14 False ENSG00000148337 ENSG00000148337 HGNC:16744 GFAP gene GFAP Expert Review Amber Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alexander disease 203450 15732098;14557587 False 2 0;0;0 1.14 False ENSG00000131095 ENSG00000131095 HGNC:4235 GNAL gene GNAL Expert Review Amber Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 25, 615073 23222958;27093447;27222887;24729450;26725140;27123488;24151159;23449625;25847575;20301334;26810727;24408567;23759320;26365774;26506956;25382112;24535567 False 2 0;0;0 1.14 False ENSG00000141404 ENSG00000141404 HGNC:4388 KCNK18 gene KCNK18 Expert Review Amber Dystonia - childhood onset Unknown MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 20871611;22355750 False 2 0;0;0 1.14 False ENSG00000186795 ENSG00000186795 HGNC:19439 TAF1 gene TAF1 Expert Review Amber Dystonia - childhood onset X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Dystonia-Parkinsonism, X-linked, 314250;(NB complex mutation) 12928496;23184149;26879577;26637982;2368812;20301334;17273961;26769797 False 2 0;0;0 1.14 False ENSG00000147133 ENSG00000147133 HGNC:11535 ACTB gene ACTB Expert Review Red Dystonia - childhood onset Unknown Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 False 1 0;0;0 1.14 False ENSG00000075624 ENSG00000075624 HGNC:132 AFG3L2 gene AFG3L2 Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000141385 ENSG00000141385 HGNC:315 AIFM1 gene AIFM1 Expert Review Red Dystonia - childhood onset X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined oxidative phosphorylation deficiency 6 300816 20362274 False 1 0;0;0 1.14 False ENSG00000156709 ENSG00000156709 HGNC:8768 ARSA gene ARSA Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000100299 ENSG00000100299 HGNC:713 ARX gene ARX Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000004848 ENSG00000004848 HGNC:18060 ATN1 gene ATN1 Expert Review Red Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentatorubro-pallidoluysian atrophy 125370 False 1 0;0;0 1.14 False Other - please provide details in the comments ENSG00000111676 ENSG00000111676 HGNC:3033 AUH gene AUH Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000148090 ENSG00000148090 HGNC:890 BDNF gene BDNF Expert Review Red Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Central hypoventilation syndrome, congenital 209880 23649659;27780732 False 1 0;0;0 1.14 False ENSG00000176697 ENSG00000176697 HGNC:1033 CYP27A1 gene CYP27A1 Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 100;0;0 1.14 False ENSG00000135929 ENSG00000135929 HGNC:2605 DCAF10 gene DCAF10 Expert Review Red Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 1.14 False ENSG00000122741 ENSG00000122741 HGNC:23686 DCTN1 gene DCTN1 Expert Review Red Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, distal hereditary motor, type VIIB False 1 0;0;0 1.14 False ENSG00000204843 ENSG00000204843 HGNC:2711 DRD2 gene DRD2 Expert Review Red Dystonia - childhood onset Unknown Dystonia, myoclonic, 159900 20301587 False 1 0;0;0 1.14 False ENSG00000149295 ENSG00000149295 HGNC:3023 DRD5 gene DRD5 Expert Review Red Dystonia - childhood onset Unknown {Blepharospasm, primary benign}, 606798 17133500 False 1 0;0;0 1.14 False ENSG00000169676 ENSG00000169676 HGNC:3026 EARS2 gene EARS2 Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000103356 ENSG00000103356 HGNC:29419 ERCC6 gene ERCC6 Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000225830 ENSG00000225830 HGNC:3438 FASTKD2 gene FASTKD2 Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000118246 ENSG00000118246 HGNC:29160 FOXG1 gene FOXG1 Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000176165 ENSG00000176165 HGNC:3811 FOXRED1 gene FOXRED1 Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000110074 ENSG00000110074 HGNC:26927 GAMT gene GAMT Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000130005 ENSG00000130005 HGNC:4136 HEXA gene HEXA Expert Review Red Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal [Hex A pseudodeficiency] 272800 AR;GM2-gangliosidosis, several forms 272800;Tay-Sachs disease 272800 False 1 0;0;0 1.14 False ENSG00000213614 ENSG00000213614 HGNC:4878 HPRT1 gene HPRT1 Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000165704 ENSG00000165704 HGNC:5157 HTT gene HTT Expert Review Red Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Huntington disease 143100 False 1 0;0;0 1.14 False ENSG00000197386 ENSG00000197386 HGNC:4851 L2HGDH gene L2HGDH Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000087299 ENSG00000087299 HGNC:20499 MAT1A gene MAT1A Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000151224 ENSG00000151224 HGNC:6903 MCOLN1 gene MCOLN1 Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000090674 ENSG00000090674 HGNC:13356 MMADHC gene MMADHC Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000168288 ENSG00000168288 HGNC:25221 MPV17 gene MPV17 Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000115204 ENSG00000115204 HGNC:7224 MR1 gene MR1 Expert Review Red Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Paroxysmal/Episodic dystonia;Dystonia False 1 0;0;0 1.14 False ENSG00000153029 ENSG00000153029 HGNC:4975 NDUFA12 gene NDUFA12 Expert Review Red Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex 1 deficiency 256000 21617257 False 1 0;0;0 1.14 False ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFA2 gene NDUFA2 Expert Review Red Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal 18513682 False 1 0;0;0 1.14 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFA9 gene NDUFA9 Expert Review Red Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency 256000 22114105 False 1 0;0;0 1.14 False ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFS3 gene NDUFS3 Expert Review Red Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010;Leigh syndrome due to mitochondrial complex I deficiency 256000 False 1 0;0;0 1.14 False ENSG00000213619 ENSG00000213619 HGNC:7710 NKX2-1 gene NKX2-1 Expert Review Red Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chorea, hereditary benign 118700;Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 24555207 False 1 0;0;0 1.14 False ENSG00000136352 ENSG00000136352 HGNC:11825 NPC2 gene NPC2 Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000119655 ENSG00000119655 HGNC:14537 NUP62 gene NUP62 Expert Review Red Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Striatonigral degeneration, infantile 271930 16786527;14718703;12374138 False 1 0;0;0 1.14 False ENSG00000213024 ENSG00000213024 HGNC:8066 PARK7 gene PARK7 Expert Review Red Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Parkinson disease 7, autosomal recessive early-onset False 1 0;0;0 1.14 False ENSG00000116288 ENSG00000116288 HGNC:16369 PCDH12 gene PCDH12 Expert Review Red Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal microcephaly;epilepsy;midbrain abnormalities;intellectual disability;hypothalamic abnormalities;perithalamic hyperechogenicity;periventricular hyperechogenicity 27164683 False 1 0;0;0 1.14 False ENSG00000113555 ENSG00000113555 HGNC:8657 PDHX gene PDHX Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000110435 ENSG00000110435 HGNC:21350 PDX1 gene PDX1 Expert Review Red Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal MODY, type IV 606392;Pancreatic agenesis 1 260370 False 1 0;0;0 1.14 False ENSG00000139515 ENSG00000139515 HGNC:6107 PITX3 gene PITX3 Expert Review Red Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Disorders of Dopamine Synthesis Regulation 22223473;21368136;26392380;25011953 False 1 0;0;0 1.14 False ENSG00000107859 ENSG00000107859 HGNC:9006 PLP1 gene PLP1 Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000123560 ENSG00000123560 HGNC:9086 PNPT1 gene PNPT1 Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000138035 ENSG00000138035 HGNC:23166 PSEN1 gene PSEN1 Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000080815 ENSG00000080815 HGNC:9508 PTEN gene PTEN Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000171862 ENSG00000171862 HGNC:9588 RNASEH2A gene RNASEH2A Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000172922 ENSG00000172922 HGNC:24116 SAMHD1 gene SAMHD1 Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000101347 ENSG00000101347 HGNC:15925 SCN9A gene SCN9A Expert Review Red Dystonia - childhood onset BOTH monoallelic and biallelic, autosomal or pseudoautosomal Paroxysmal extreme pain disorder, 167400;Congenital Indifference to Pain;Paroxysmal Extreme Pain Disorder;Hereditary Sensory Neuropathy;Febrile seizures, familial, 3B, 613863;Dysosteosclerosis;Epilepsy, generalized, with febrile seizures plus, type 7, 613863;Insensitivity to pain, channelopathy-associated, 243000;Erythermalgia, primary, 133020;Erythermalgia, Primary False 1 0;0;0 1.14 False ENSG00000169432 ENSG00000169432 HGNC:10597 SCP2 gene SCP2 Expert Review Red Dystonia - childhood onset Unknown Leukoencephalopathy with dystonia and motor neuropathy, 613724 16685654 False 1 0;0;0 1.14 False ENSG00000116171 ENSG00000116171 HGNC:10606 SDHAF1 gene SDHAF1 Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000205138 ENSG00000205138 HGNC:33867 SLC46A1 gene SLC46A1 Expert Review Red Dystonia - childhood onset Unknown Dystonia False 1 0;0;0 1.14 False ENSG00000076351 ENSG00000076351 HGNC:30521 SUOX gene SUOX Expert Review Red Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Dystonia False 1 0;0;0 1.14 False ENSG00000139531 ENSG00000139531 HGNC:11460 TIMM8A gene TIMM8A Expert Review Red Dystonia - childhood onset Deafness-Dystonia-Optic Neuronopathy Syndrome False 1 0;0;0 1.14 False ENSG00000126953 ENSG00000126953 HGNC:11817 TPK1 gene TPK1 Expert Review Red Dystonia - childhood onset Dystonia False 1 0;0;0 1.14 False ENSG00000196511 ENSG00000196511 HGNC:17358 TREM2 gene TREM2 Expert Review Red Dystonia - childhood onset Dystonia False 1 0;0;0 1.14 False ENSG00000095970 ENSG00000095970 HGNC:17761 TREX1 gene TREX1 Expert Review Red Dystonia - childhood onset Dystonia False 1 0;0;0 1.14 False ENSG00000213689 ENSG00000213689 HGNC:12269 VPS37A gene VPS37A Expert Review Red Dystonia - childhood onset Dystonia False 1 0;0;0 1.14 False ENSG00000155975 ENSG00000155975 HGNC:24928 ATN1_CAG str ATN1 NHS GMS;Expert Review Green;Expert list Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentatorubro-pallidoluysian atrophy 125370 20301664;8136840;20301664;8136840;8136826;7614090 False 3 100;0;0 1.14 False ENSG00000111676 ENSG00000111676 HGNC:3033 12 7045880 7045936 6936717 6936772 CAG 36 48 ATXN2_CAG str ATXN2 NHS GMS;Expert Review Green;Expert list Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 2 183090 False 3 100;0;0 1.14 False ENSG00000204842 ENSG00000204842 HGNC:10555 12 112036755 112036823 111598951 111599019 CAG 32 35 ATXN3_CAG str ATXN3 NHS GMS;Expert Review Green;Expert list Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Machado-Joseph disease 109150 False 3 100;0;0 1.14 False ENSG00000066427 ENSG00000066427 HGNC:7106 14 92537355 92537396 92071011 92071052 CAG 45 60 CACNA1A_CAG str CACNA1A NHS GMS;Expert Review Green;Expert list Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 6 183086 False 3 100;0;0 1.14 False ENSG00000141837 ENSG00000141837 HGNC:1388 19 13318673 13318711 13207859 13207897 CAG 19 20 CSTB_CCCCGCCCCGCG str CSTB NHS GMS;Expert Review Green;Expert list Dystonia - childhood onset BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 False 3 100;0;0 1.14 False ENSG00000160213 ENSG00000160213 HGNC:2482 21 45196328 45196351 43776429 43776470 CCCCGCCCCGCG 18 30 JPH3_CTG str JPH3 NHS GMS;Expert Review Green;Expert list Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Huntington disease-like 2 606438 False 3 100;0;0 1.14 False ENSG00000154118 ENSG00000154118 HGNC:14203 16 87637894 87637932 87604288 87604326 CTG 29 40 TBP_CAG str TBP NHS GMS;Expert Review Green;Expert list Dystonia - childhood onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 17 607136 False 3 100;0;0 1.14 False ENSG00000112592 ENSG00000112592 HGNC:11588 6 170870996 170871109 170561908 170562021 CAG 41 49 ISCA-37468-Loss region Other;Expert Review Green Dystonia - childhood onset X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) short stature;severe intellectual disability;lip-smacking;exiting behavior;autistic features;hypotonia;stereotypical hand movements;eleveated serotonin levels;episodes of sudden loss of muscle tone 20485326;22365943;23414621 False 3 0;0;0 1.14 False X 43654906 43882474 3 60 cnv_loss Xp11.23 region (includes MAOA and MAOB) Loss