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 Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal dystonia;Aicardi-Goutieres syndrome 6, 615010 23001123;28139822 False 1 0;50;50 5.5 False ENSG00000160710 ENSG00000160710 HGNC:225 ADCY5 gene ADCY5 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted dystonia;Familial dyskinesia 606703;Dyskinesia, familial, with facial myokymia, 606703 11310626;24700542 False 1 0;50;50 5.5 False ENSG00000173175 ENSG00000173175 HGNC:236 AIFM1 gene AIFM1 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined oxidative phosphorylation deficiency 6 300816 20362274 False 1 0;50;50 5.5 False ENSG00000156709 ENSG00000156709 HGNC:8768 AP1S2 gene AP1S2 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Pettigrew syndrome, OMIM:304340 17617514;18428203;23756445 False 1 0;50;50 5.5 False ENSG00000182287 ENSG00000182287 HGNC:560 ATN1 gene ATN1 Expert Review Red;London North GLH;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Other Dentatorubral-pallidoluysian atrophy, OMIM:125370 False 1 33;0;67 5.5 False Other - please provide details in the comments ENSG00000111676 ENSG00000111676 HGNC:3033 ATP6AP2 gene ATP6AP2 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females ?Parkinsonism with spasticity, X-linked 300911;Mental retardation, X-linked, syndromic, Hedera type 300423 23595882 False 1 0;0;100 5.5 False ENSG00000182220 ENSG00000182220 HGNC:18305 ATXN1 gene ATXN1 London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology Other Spinocerebellar ataxia 1, OMIM:164400 False 1 0;0;100 5.5 False ENSG00000124788 ENSG00000124788 HGNC:10548 ATXN2 gene ATXN2 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Other Spinocerebellar ataxia 2, OMIM:183090;{Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090;{Parkinson disease, late-onset, susceptibility to}, OMIM:168600 False 1 0;0;100 5.5 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000204842 ENSG00000204842 HGNC:10555 ATXN3 gene ATXN3 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Other Machado-Joseph disease, OMIM:109150 False 1 0;0;100 5.5 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000066427 ENSG00000066427 HGNC:7106 BCAP31 gene BCAP31 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology 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 1 0;50;50 5.5 False ENSG00000185825 ENSG00000185825 HGNC:16695 BCS1L gene BCS1L Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Bjornstad syndrome, 262000;Leigh syndrome, 256000;Mitochondrial complex III deficiency, nuclear type 1, 124000 False 1 0;50;50 5.5 False ENSG00000074582 ENSG00000074582 HGNC:1020 BDNF gene BDNF Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Central hypoventilation syndrome, congenital 209880 23649659;27780732;30643666 False 1 0;0;100 5.5 False ENSG00000176697 ENSG00000176697 HGNC:1033 C9orf72 gene C9orf72 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Other Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 25326098 False 1 0;0;100 5.5 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000147894 ENSG00000147894 HGNC:28337 CACNB4 gene CACNB4 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9;EPISODIC ATAXIA, TYPE 5 10762541 False 1 0;50;50 5.5 False ENSG00000182389 ENSG00000182389 HGNC:1404 COASY gene COASY Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal COASY protein-associated neurodegeneration;Neurodegeneration with brain iron accumulation 6;Neurodegeneration with brain iron accumulation 6 615643 11980892;25778941;24360804;27021474;28489334;30089828;36495139 False 1 0;50;50 5.5 False ENSG00000068120 ENSG00000068120 HGNC:29932 COX10 gene COX10 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 10767350 False 1 0;50;50 5.5 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX15 gene COX15 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 False 1 0;50;50 5.5 False ENSG00000014919 ENSG00000014919 HGNC:2263 CSTB gene CSTB Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 26843564 False 1 0;50;50 5.5 False ENSG00000160213 ENSG00000160213 HGNC:2482 DCAF10 gene DCAF10 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 5.5 False ENSG00000122741 ENSG00000122741 HGNC:23686 DLAT gene DLAT Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal episodic dystonia;pyruvate dehydrogenase deficiency;Pyruvate dehydrogenase E2 deficiency;Pyruvate dehydrogenase E2 deficiency 245348 16049940;19891062;20022530 False 1 0;50;50 5.5 False ENSG00000150768 ENSG00000150768 HGNC:2896 DRD2 gene DRD2 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Dystonia, myoclonic, 159900 20301587 False 1 0;0;100 5.5 False ENSG00000149295 ENSG00000149295 HGNC:3023 DRD5 gene DRD5 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology {Blepharospasm, primary benign}, 606798 12700316;17133500 False 1 0;0;100 5.5 False ENSG00000169676 ENSG00000169676 HGNC:3026 EARS2 gene EARS2 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Combined oxidative phosphorylation deficiency 12, 614924;Dystonia False 1 0;0;100 5.5 False ENSG00000103356 ENSG00000103356 HGNC:29419 ERCC6 gene ERCC6 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Dystonia False 1 0;0;100 5.5 False ENSG00000225830 ENSG00000225830 HGNC:3438 ETHE1 gene ETHE1 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ethylmalonic encephalopathy 602473 False 1 0;50;50 5.5 False ENSG00000105755 ENSG00000105755 HGNC:23287 FA2H gene FA2H Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal fatty acid hydroxylase-associated neurodegeneration;Spastic paraplegia 35, autosomal recessive 612319;Dystonia 19068277 False 1 0;50;50 5.5 False ENSG00000103089 ENSG00000103089 HGNC:21197 FASTKD2 gene FASTKD2 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 44, OMIM:618855;Dystonia False 1 0;0;100 5.5 False ENSG00000118246 ENSG00000118246 HGNC:29160 FOXP2 gene FOXP2 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Speech-language disorder-1 602081 22434823;11586359;15877281 False 1 0;50;50 5.5 False ENSG00000128573 ENSG00000128573 HGNC:13875 FOXRED1 gene FOXRED1 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Mitochondrial complex I deficiency, nuclear type 19, 618241;Dystonia False 1 0;0;100 5.5 False ENSG00000110074 ENSG00000110074 HGNC:26927 GAMT gene GAMT Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Cerebral creatine deficiency syndrome 2, 612736;Dystonia 24268530 False 1 0;0;100 5.5 False ENSG00000130005 ENSG00000130005 HGNC:4136 GCDH gene GCDH Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal 8900228;8900227;10699052;11174631;7795610 False 1 0;50;50 5.5 False ENSG00000105607 ENSG00000105607 HGNC:4189 GIGYF2 gene GIGYF2 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Susceptibility to Parkinson disease 11, 607688;{Parkinson disease 11} 20060621;20044296;19482505;201788319;26134514;19449032;19321232;19429085;20685231;18923002;19250854;19279319;18358451 False 1 0;0;100 5.5 False ENSG00000204120 ENSG00000204120 HGNC:11960 GLRA1 gene GLRA1 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia, hereditary 1, 149400 20301437 False 1 0;50;50 5.5 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLRB gene GLRB Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 2, 614619 23238346;11929858;21391991 False 1 0;50;50 5.5 False ENSG00000109738 ENSG00000109738 HGNC:4329 GNAO1 gene GNAO1 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with involuntary movements, 617493 27068059;27625011;26060304;25966631;28357411 False 1 0;50;50 5.5 False ENSG00000087258 ENSG00000087258 HGNC:4389 HEXA gene HEXA Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hex A pseudodeficiency 272800;GM2-gangliosidosis, several forms 272800;Tay-Sachs disease 272800 20301397;18642377 False 1 0;0;100 5.5 False ENSG00000213614 ENSG00000213614 HGNC:4878 HIBCH gene HIBCH Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal 3-hydroxyisobutryl-CoA hydrolase deficiency 250620 False 1 0;50;50 5.5 False ENSG00000198130 ENSG00000198130 HGNC:4908 HPRT1 gene HPRT1 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Lesch-Nyhan syndrome, OMIM:300322;Dystonia 20176575 False 1 0;0;100 5.5 False ENSG00000165704 ENSG00000165704 HGNC:5157 HTRA2 gene HTRA2 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson Disease, Dominant;Parkinson disease 13, 610297;3-methylglutaconic aciduria, type VIII 617248 18364387;27208207;18401856;27696117;23462481;15961413 False 1 0;50;50 5.5 False ENSG00000115317 ENSG00000115317 HGNC:14348 HTT gene HTT Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Other Huntington disease, OMIM:143100 False 1 0;0;100 5.5 False ENSG00000197386 ENSG00000197386 HGNC:4851 IFIH1 gene IFIH1 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aicardi-Goutieres syndrome 7, OMIM:615846 False 1 0;50;50 5.5 False ENSG00000115267 ENSG00000115267 HGNC:18873 IPPK gene IPPK Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Early Onset Complex Disease False 1 0;0;100 5.5 False ENSG00000127080 ENSG00000127080 HGNC:14645 ISG15 gene ISG15 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 38 616126 25307056;22859821 False 1 0;50;50 5.5 False ENSG00000187608 ENSG00000187608 HGNC:4053 IVD gene IVD Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Isovaleric acidemia False 1 0;50;50 5.5 False ENSG00000128928 ENSG00000128928 HGNC:6186 JPH3 gene JPH3 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Other Huntington disease-like 2, OMIM:606438 False 1 0;0;100 5.5 False Other - please provide details in the comments ENSG00000154118 ENSG00000154118 HGNC:14203 KCNA1 gene KCNA1 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPISODIC ATAXIA, TYPE 1;myokymia with periodic ataxia 17575281 False 1 0;50;50 5.5 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNK18 gene KCNK18 Expert Review Red;London North GLH;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 22355750;20871611 False 1 0;0;100 5.5 False ENSG00000186795 ENSG00000186795 HGNC:19439 KCNQ2 gene KCNQ2 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myokymia, 121200 False 1 0;50;50 5.5 False ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ3 gene KCNQ3 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Seizures, benign neonatal, type 2, 121201 False 1 0;50;50 5.5 False ENSG00000184156 ENSG00000184156 HGNC:6297 L2HGDH gene L2HGDH Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology L-2-hydroxyglutaric aciduria, 236792;Dystonia 18780161 False 1 0;0;100 5.5 False ENSG00000087299 ENSG00000087299 HGNC:20499 MAT1A gene MAT1A Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850;Dystonia 26289392 False 1 0;0;100 5.5 False ENSG00000151224 ENSG00000151224 HGNC:6903 MCOLN1 gene MCOLN1 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Mucolipidosis IV, 252650;Dystonia 29449188 False 1 0;0;100 5.5 False ENSG00000090674 ENSG00000090674 HGNC:13356 MECR gene MECR Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 27817865 False 1 0;50;50 5.5 False ENSG00000116353 ENSG00000116353 HGNC:19691 MMADHC gene MMADHC Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Methylmalonic aciduria, cblD type, variant 2;Homocystinuria, cblD type, variant 1;Methylmalonic aciduria and homocystinuria, cblD type, 277410;Dystonia 20301503 False 1 0;0;100 5.5 False ENSG00000168288 ENSG00000168288 HGNC:25221 MPV17 gene MPV17 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810;Dystonia 22593919 False 1 0;0;100 5.5 False ENSG00000115204 ENSG00000115204 HGNC:7224 MR1 gene MR1 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Paroxysmal/Episodic dystonia;Dystonia False 1 0;0;100 5.5 False ENSG00000153029 ENSG00000153029 HGNC:4975 MT-ATP6 gene MT-ATP6 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MITOCHONDRIAL 1550128;11916326 False 1 0;50;50 5.5 False ENSG00000198899 ENSG00000198899 HGNC:7414 MT-ND1 gene MT-ND1 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MITOCHONDRIAL False 1 0;50;50 5.5 False ENSG00000198888 ENSG00000198888 HGNC:7455 MT-ND6 gene MT-ND6 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MITOCHONDRIAL Leber Optic Atrophy And Dystonia False 1 0;50;50 5.5 False ENSG00000198695 ENSG00000198695 HGNC:7462 MUT gene MUT Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, mut(0) type False 1 0;50;50 5.5 False ENSG00000146085 ENSG00000146085 HGNC:7526 NDUFA1 gene NDUFA1 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology 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 28247337;17262856;19185523;21596602 False 1 0;50;50 5.5 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome 21150889;28247337;26741492 False 1 0;50;50 5.5 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA12 gene NDUFA12 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 21617257;33715266;35141356 False 1 0;0;100 5.5 False ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFA2 gene NDUFA2 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 13 28857146;18513682;27159321 False 1 0;0;100 5.5 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFA9 gene NDUFA9 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 26, 618247;Leigh syndrome due to mitochondrial complex I deficiency 28671271;22114105 False 1 0;0;100 5.5 False ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAF2 gene NDUFAF2 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 10, 618233 16200211;20571988;20818383 False 1 0;50;50 5.5 False ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF6 gene NDUFAF6 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency 18614015;27623250;26741492 False 1 0;50;50 5.5 False ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFS3 gene NDUFS3 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency 256000;Mitochondrial complex I deficiency;Mitochondrial complex I deficiency, nuclear type 8, 618230 14729820;19167255 False 1 0;0;100 5.5 False ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS4 gene NDUFS4 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010;Leigh syndrome 256000 24020637 False 1 0;50;50 5.5 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS7 gene NDUFS7 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 3, 618224 False 1 0;50;50 5.5 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 2, 618222 False 1 0;50;50 5.5 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010 10080174;26345448 False 1 0;50;50 5.5 False ENSG00000167792 ENSG00000167792 HGNC:7716 NKX6-2 gene NKX6-2 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 15601927;28575651 False 1 0;50;50 5.5 False ENSG00000148826 ENSG00000148826 HGNC:19321 NPC2 gene NPC2 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Niemann-pick disease, type C2, 607625;Dystonia 11567215 False 1 0;0;100 5.5 False ENSG00000119655 ENSG00000119655 HGNC:14537 NR4A2 gene NR4A2 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson Disease, Dominant/Recessive (susceptibility to) 12827450;25543265;15390059;24126627;27012974;15184637;12496759;15276233 False 1 0;0;100 5.5 False ENSG00000153234 ENSG00000153234 HGNC:7981 NUP62 gene NUP62 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Striatonigral degeneration, infantile;Striatonigral degeneration, infantile 271930 16786527;14718703;12374138 False 1 0;0;100 5.5 False ENSG00000213024 ENSG00000213024 HGNC:8066 OCLN gene OCLN Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Band-like calcification with simplified gyration and polymicrogyria 251290 20727516 False 1 0;50;50 5.5 False ENSG00000197822 ENSG00000197822 HGNC:8104 OPA3 gene OPA3 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type III, 258501;Costeff syndrome 25201222;11668429;20301646;24944951;25657044 False 1 0;50;50 5.5 False ENSG00000125741 ENSG00000125741 HGNC:8142 PCCA gene PCCA Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Propionicacidemia 6790853;15235904 False 1 0;50;50 5.5 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Propionicacidemia False 1 0;50;50 5.5 False ENSG00000114054 ENSG00000114054 HGNC:8654 PCDH12 gene PCDH12 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal intellectual disability;Microcephaly;perithalamic hyperechogenicity;midbrain abnormalities;hypothalamic abnormalities;epilepsy;microcephaly;periventricular hyperechogenicity 30459466 False 1 0;0;100 5.5 False ENSG00000113555 ENSG00000113555 HGNC:8657 PDE10A gene PDE10A Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Striatal degeneration, autosomal dominant, OMIM:616922;Dyskinesia, limb and orofacial, infantile-onset, OMIM:616921 27058446;27058447;28949041;29130591;30345538 False 1 33;33;33 5.5 False ENSG00000112541 ENSG00000112541 HGNC:8772 PDHA1 gene PDHA1 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology 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 1 0;50;50 5.5 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDHX gene PDHX Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Lacticacidemia due to PDX1 deficiency, 245349;Dystonia 20002125;25087164 False 1 0;0;100 5.5 False ENSG00000110435 ENSG00000110435 HGNC:21350 PDP1 gene PDP1 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase phosphatase deficiency, 608782 19184109;15855260 False 1 0;50;50 5.5 False ENSG00000164951 ENSG00000164951 HGNC:9279 PDX1 gene PDX1 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal MODY, type IV 606392;Pancreatic agenesis 1 260370;Pancreatic agenesis 1 False 1 0;0;100 5.5 False ENSG00000139515 ENSG00000139515 HGNC:6107 PNPT1 gene PNPT1 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Combined oxidative phosphorylation deficiency 13, OMIM:614932;Dystonia 30046113;23084291 False 1 0;0;100 5.5 False ENSG00000138035 ENSG00000138035 HGNC:23166 PPP2R2B gene PPP2R2B London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology Other Spinocerebellar ataxia 12, OMIM:604326 False 1 0;0;100 5.5 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000156475 ENSG00000156475 HGNC:9305 PSEN1 gene PSEN1 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Pick disease, 172700;Dementia, frontotemporal 600274;Alzheimer disease, type 3, 607822;Cardiomyopathy, dilated, 1U, 613694;Dystonia 29316780;28664294 False 1 0;0;100 5.5 False ENSG00000080815 ENSG00000080815 HGNC:9508 PTEN gene PTEN Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Cowden syndrome 1, 158350;Macrocephaly/autism syndrome, 605309;Lhermitte-Duclos syndrome, 158350;VATER association with macrocephaly and ventriculomegaly, 276950;Dystonia False 1 0;0;100 5.5 False ENSG00000171862 ENSG00000171862 HGNC:9588 RNASEH2A gene RNASEH2A Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Aicardi-Goutieres syndrome 4, 610333;Dystonia 17846997;25604658;16845400 False 1 0;0;100 5.5 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, OMIM:610181;Dystonia (onset in infancy) 17846997;25604658;16845400 False 1 0;0;100 5.5 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Aicardi-Goutieres syndrome 3, 610329;Dystonia 17846997;25604658;16845400 False 1 0;0;100 5.5 False ENSG00000172922 ENSG00000172922 HGNC:24116 SAMHD1 gene SAMHD1 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Aicardi-Goutieres syndrome 5, 612952;Dystonia 25604658;20842748 False 1 0;0;100 5.5 False ENSG00000101347 ENSG00000101347 HGNC:15925 SCN1A gene SCN1A Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dravet syndrome;several epilepsy, convulsion and migraine disorders.;familial hemiplegic migraine 3 16054936;19332696 False 1 0;50;50 5.5 False ENSG00000144285 ENSG00000144285 HGNC:10585 SCN8A gene SCN8A Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted epilepsy;paroxysmal kinesigenic dyskinesias 26677014 False 1 0;50;50 5.5 False ENSG00000196876 ENSG00000196876 HGNC:10596 SCN9A gene SCN9A Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Paroxysmal extreme pain disorder, 167400;Erythermalgia, primary, 133020;Erythermalgia, Primary;Paroxysmal Extreme Pain Disorder;Congenital Indifference to Pain;Epilepsy, generalized, with febrile seizures plus, type 7, 613863;Insensitivity to pain, channelopathy-associated, 243000;Dysosteosclerosis;Hereditary Sensory Neuropathy;Febrile seizures, familial, 3B, 613863 False 1 0;0;100 5.5 False ENSG00000169432 ENSG00000169432 HGNC:10597 SCP2 gene SCP2 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Leukoencephalopathy with dystonia and motor neuropathy, 613724;?Leukoencephalopathy with dystonia and motor neuropathy, 613724 26497993;16685654 False 1 0;0;100 5.5 False ENSG00000116171 ENSG00000116171 HGNC:10606 SDHA gene SDHA Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1GG, 613642;Leigh syndrome, 256000;Mitochondrial respiratory chain complex II deficiency, 252011 False 1 0;50;50 5.5 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Mitochondrial complex II deficiency, 252011;Dystonia 27683074;23322652 False 1 0;0;100 5.5 False ENSG00000205138 ENSG00000205138 HGNC:33867 SERAC1 gene SERAC1 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 27186703;28482397;27604308;28778788;29205472;22683713;16527507 False 1 0;50;50 5.5 False ENSG00000122335 ENSG00000122335 HGNC:21061 SLC1A3 gene SLC1A3 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPISODIC ATAXIA, TYPE 6 27829685;16116111;19139306 False 1 0;50;50 5.5 False ENSG00000079215 ENSG00000079215 HGNC:10941 SLC25A19 gene SLC25A19 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710;Microcephaly, Amish type 607196 12185364;17035501;19798730 False 1 0;50;50 5.5 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC39A14 gene SLC39A14 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 2 27231142 False 1 0;50;50 5.5 False ENSG00000104635 ENSG00000104635 HGNC:20858 SLC41A1 gene SLC41A1 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Parkinson disease (Yan (2011) Int J Neurosci 121,632) 24661466;26308152;21812739;20683486;27612022 False 1 0;0;100 5.5 False ENSG00000133065 ENSG00000133065 HGNC:19429 SLC46A1 gene SLC46A1 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Folate malabsorption, hereditary, OMIM:229050 20301716 False 1 0;0;100 5.5 False ENSG00000076351 ENSG00000076351 HGNC:30521 SLC6A3 gene SLC6A3 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinsonism-dystonia, infantile, 613135 PMID: 24613933 False 1 0;50;50 5.5 False ENSG00000142319 ENSG00000142319 HGNC:11049 SLC6A5 gene SLC6A5 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 3, 614618 16751771 False 1 0;50;50 5.5 False ENSG00000165970 ENSG00000165970 HGNC:11051 SNCAIP gene SNCAIP Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson Disease, Dominant/Recessive 18366718;21344240 False 1 0;0;100 5.5 False ENSG00000064692 ENSG00000064692 HGNC:11139 SPR gene SPR Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 http://www.ncbi.nlm.nih.gov/books/NBK1155/;22522443;15241655 False 1 33;33;33 5.5 False ENSG00000116096 ENSG00000116096 HGNC:11257 SUCLA2 gene SUCLA2 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal False 1 0;50;50 5.5 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 False 1 0;50;50 5.5 False ENSG00000163541 ENSG00000163541 HGNC:11449 SUOX gene SUOX Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Sulfite oxidase deficiency, 272300;Dystonia 28933809 False 1 0;0;100 5.5 False ENSG00000139531 ENSG00000139531 HGNC:11460 SURF1 gene SURF1 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4K, 616684;Leigh syndrome, due to COX IV deficiency, 256000 False 1 0;50;50 5.5 False ENSG00000148290 ENSG00000148290 HGNC:11474 TBP gene TBP Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Other Spinocerebellar ataxia 17, OMIM:607136;{Parkinson disease, susceptibility to}, OMIM:168600 False 1 0;0;100 5.5 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000112592 ENSG00000112592 HGNC:11588 TH gene TH Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Segawa syndrome;paediatric form of dopa responsive dystonia;infantile parkinsonism;DOPA-responsive dystonia;Segawa syndrome, recessive, 605407 http://www.ncbi.nlm.nih.gov/books/NBK1155/ False 1 0;50;50 5.5 False ENSG00000180176 ENSG00000180176 HGNC:11782 TPK1 gene TPK1 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458;Dystonia 28431625 False 1 0;0;100 5.5 False ENSG00000196511 ENSG00000196511 HGNC:17358 TREM2 gene TREM2 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193;Frontotemporal dementia;Alzheimers disease;Dystonia 26891767 False 1 0;0;100 5.5 False ENSG00000095970 ENSG00000095970 HGNC:17761 TREX1 gene TREX1 Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Vasculopathy, retinal, with cerebral leukodystrophy, 192315;Aicardi-Goutieres syndrome 1, dominant and recessive, 225750;Dystonia 25582466 False 1 0;0;100 5.5 False ENSG00000213689 ENSG00000213689 HGNC:12269 TUBA1A gene TUBA1A Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 3 611603 False 1 0;50;50 5.5 False ENSG00000167552 ENSG00000167552 HGNC:20766 VAC14 gene VAC14 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Striatonigral degeneration, childhood-onset 19037259;17956977;27292112 False 1 0;50;50 5.5 False ENSG00000103043 ENSG00000103043 HGNC:25507 VPS37A gene VPS37A Expert Review Red;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Spastic paraplegia 53, autosomal recessive, 614898;Dystonia 22717650 False 1 0;0;100 5.5 False ENSG00000155975 ENSG00000155975 HGNC:24928 WDR73 gene WDR73 Expert Review Red;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 1, 251300 False 1 0;50;50 5.5 False ENSG00000177082 ENSG00000177082 HGNC:25928 ISCA-37468-Loss region Other;Expert Review Red Adult onset dystonia, chorea or related movement disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) hypotonia;episodes of sudden loss of muscle tone;short stature;severe intellectual disability;autistic features;eleveated serotonin levels;exiting behavior;lip-smacking;stereotypical hand movements 23414621;20485326;22365943 False 1 0;0;100 5.5 False X 43654906 43882474 3 60 cnv_loss Xp11.23 region (includes MAOA and MAOB) Loss