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 ACTB gene ACTB Expert Review Green;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia, juvenile-onset, OMIM:607371;developmental malformations-deafness-dystonia syndrome MONDO:0011823;Baraitser-Winter syndrome 1 OMIM:243310:Baraitser-Winter syndrome 1 MONDO:0009470 28849312;16685646;27862284;28487785;29788902 False 3 50;50;0 5.5 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000075624 ENSG00000075624 HGNC:132 AFG3L2 gene AFG3L2 Expert Review Green;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia 28, OMIM:610246;Spastic ataxia 5, autosomal recessive, OMIM:614487 False 3 50;50;0 5.5 False ENSG00000141385 ENSG00000141385 HGNC:315 ANO3 gene ANO3 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 24 OMIM:615034;dystonia 24 MONDO:0014019 27392807;24094724;24442708;25847575;24151159;23200863 False 3 50;50;0 5.5 False ENSG00000134343 ENSG00000134343 HGNC:14004 APTX gene APTX Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920;ataxia with oculomotor apraxia type 1 MONDO:0008842 False 3 50;50;0 5.5 False ENSG00000137074 ENSG00000137074 HGNC:15984 ARSA gene ARSA Expert Review Green;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy, OMIM:250100;metachromatic leukodystrophy, juvenile form, MONDO:0009591 20301334;1670590;9600244;1673291;1684088;31684987 False 3 50;50;0 5.5 False ENSG00000100299 ENSG00000100299 HGNC:713 ATM gene ATM Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia OMIM:208900;ataxia telangiectasia MONDO:0008840 False 3 50;50;0 5.5 False ENSG00000149311 ENSG00000149311 HGNC:795 ATP13A2 gene ATP13A2 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Kufor-Rakeb Syndrome OMIM:606693;Kufor-Rakeb syndrome MONDO:0011706 21060012 False 3 50;50;0 5.5 False ENSG00000159363 ENSG00000159363 HGNC:30213 ATP1A2 gene ATP1A2 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted familial basilar migraine OMIM:602481;familial hemiplegic migraine type 2 OMIM:602481;migraine, familial hemiplegic, 2 MONDO:0011232;alternating hemiplegia of childhood OMIM:104290;alternating hemiplegia of childhood 1 MONDO:0007087 12539047;12953268;18056581 False 3 50;50;0 5.5 False ENSG00000018625 ENSG00000018625 HGNC:800 ATP1A3 gene ATP1A3 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alternating hemiplegia of childhood 2 OMIM:614820;alternating hemiplegia of childhood 2 MONDO:0013900;CAPOS syndrome OMIM:601338;cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0011038;Dystonia-12 OMIM:128235;dystonia 12 MONDO:0007496 22842232;http://www.ncbi.nlm.nih.gov/books/NBK1155/;22850527 False 3 50;50;0 5.5 False ENSG00000105409 ENSG00000105409 HGNC:801 ATP7B gene ATP7B Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Wilson disease OMIM:277900;Wilson disease MONDO:0010200 20301685 False 3 50;50;0 5.5 False ENSG00000123191 ENSG00000123191 HGNC:870 C19orf12 gene C19orf12 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal "?Spastic paraplegia 43, autosomal recessive OMIM:615043;hereditary spastic paraplegia 43 MONDO:0014024;Neurodegeneration with brain iron accumulation 4 OMIM:614298;neurodegeneration with brain iron accumulation 4 MONDO:0013674" 21981780;29295770;31087512 False 3 50;50;0 5.5 False ENSG00000131943 ENSG00000131943 HGNC:25443 CACNA1A gene CACNA1A Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 2, OMIM:108500;Migraine, familial hemiplegic, 1, OMIM:141500;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 17575281;21734179 False 3 50;50;0 5.5 False ENSG00000141837 ENSG00000141837 HGNC:1388 CHMP2B gene CHMP2B Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, OMIM:600795 False 3 50;50;0 5.5 False ENSG00000083937 ENSG00000083937 HGNC:24537 CP gene CP Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, OMIM:604290;Hypoceruloplasminemia, hereditary, OMIM:604290;Hemosiderosis, systemic, due to aceruloplasminemia, OMIM:604290 False 3 50;50;0 5.5 False ENSG00000047457 ENSG00000047457 HGNC:2295 CSF1R gene CSF1R Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820 22197934;22197934;23787135;24336230 False 3 50;50;0 5.5 False ENSG00000182578 ENSG00000182578 HGNC:2433 CYP27A1 gene CYP27A1 Expert Review Green;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, OMIM:213700 24442603;30054180;29484516 False 3 67;33;0 5.5 False ENSG00000135929 ENSG00000135929 HGNC:2605 DCAF17 gene DCAF17 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Woodhouse-Sakati syndrome, OMIM:241080 False 3 50;50;0 5.5 False ENSG00000115827 ENSG00000115827 HGNC:25784 DCTN1 gene DCTN1 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Perry syndrome, OMIM:168605;Neuronopathy, distal hereditary motor, type VIIB, OMIM:607641 20945553 (Gene Reviews);24343258;20437543;19136952;27132499;27346608 False 3 50;50;0 5.5 False ENSG00000204843 ENSG00000204843 HGNC:2711 DNAJC6 gene DNAJC6 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 19b, early-onset, OMIM:615528;Parkinson disease 19a juvenile-onset, OMIM:615528;juvenile onset Parkinson disease 19A, MONDO:0014231 27687717;22563501;23211418;26528954;34175496;26703368;33181391;32472658 False 3 50;50;0 5.5 False ENSG00000116675 ENSG00000116675 HGNC:15469 FBXO7 gene FBXO7 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 15, autosomal recessive, OMIM:260300 False 3 50;50;0 5.5 False ENSG00000100225 ENSG00000100225 HGNC:13586 FTL gene FTL Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration with brain iron accumulation 3, OMIM:606159 15173247;18854324;18413574;22278127;24209436 False 3 50;50;0 5.5 False ENSG00000087086 ENSG00000087086 HGNC:3999 GBA gene GBA Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 27648471;27717005;27632223;29400127;27779773 False 3 25;75;0 5.5 False ENSG00000177628 ENSG00000177628 HGNC:4177 GCH1 gene GCH1 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, B, OMIM:233910;Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230 http://www.ncbi.nlm.nih.gov/books/NBK1155/ False 3 50;50;0 5.5 False ENSG00000131979 ENSG00000131979 HGNC:4193 GFAP gene GFAP Expert Review Green;London North GLH;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alexander disease, OMIM:203450 14557587;15732098 False 3 0;33;67 5.5 False ENSG00000131095 ENSG00000131095 HGNC:4235 GNAL gene GNAL Expert Review Green;London North GLH;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 25, OMIM:615073 23449625;26810727;23222958;25847575;26725140;27123488;24408567;26365774;25382112;27093447;24535567;23759320;27222887;http://www.ncbi.nlm.nih.gov/books/NBK1155/;24151159;26506956;24729450 False 3 67;33;0 5.5 False ENSG00000141404 ENSG00000141404 HGNC:4388 GRN gene GRN Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485 20301545;17923627 False 3 50;50;0 5.5 False ENSG00000030582 ENSG00000030582 HGNC:4601 GTPBP2 gene GTPBP2 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Jaberi-Elahi syndrome, OMIM:617988 False 3 50;50;0 5.5 False ENSG00000172432 ENSG00000172432 HGNC:4670 HPCA gene HPCA Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia 2, torsion, autosomal recessive, OMIM:224500 30145809;25799108 False 3 50;50;0 5.5 False ENSG00000121905 ENSG00000121905 HGNC:5144 KIAA1161 gene KIAA1161 Expert Review;Expert Review Green Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317 29910000;30589467;30656188;30649222;31009047 False 3 100;0;0 5.5 False ENSG00000164976 ENSG00000164976 HGNC:19918 KMT2B gene KMT2B Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 28, childhood-onset, OMIM:617284 27992417 False 3 50;50;0 5.5 False ENSG00000272333 ENSG00000272333 HGNC:15840 LRRK2 gene LRRK2 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Parkinson disease 8}, OMIM:607060 28395803;28395805;27090875;25391693;28395802;28395804 False 3 50;50;0 5.5 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000188906 ENSG00000188906 HGNC:18618 LYST gene LYST Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome, OMIM:214500 11857544;9215680;8896560;9215679;23436631 False 3 50;50;0 5.5 False ENSG00000143669 ENSG00000143669 HGNC:1968 MAPT gene MAPT Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Supranuclear palsy, progressive, OMIM:601104;Supranuclear palsy, progressive atypical, OMIM:260540;{Parkinson disease, susceptibility to}, OMIM:168600;Dementia, frontotemporal, with or without parkinsonism, OMIM:600274;Pick disease, OMIM:172700 28334843;20301678 False 3 50;50;0 5.5 False ENSG00000186868 ENSG00000186868 HGNC:6893 NKX2-1 gene NKX2-1 Expert Review Green;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978;Chorea, hereditary benign, OMIM:118700 24714694;24555207 False 3 50;50;0 5.5 False ENSG00000136352 ENSG00000136352 HGNC:11825 PANK2 gene PANK2 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 1, OMIM:234200 False 3 50;50;0 5.5 False ENSG00000125779 ENSG00000125779 HGNC:15894 PARK7 gene PARK7 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 7, autosomal recessive early-onset, OMIM:606324 False 3 50;50;0 5.5 False ENSG00000116288 ENSG00000116288 HGNC:16369 PDGFB gene PDGFB Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 5, OMIM:615483 23913003;26129893 False 3 50;50;0 5.5 False ENSG00000100311 ENSG00000100311 HGNC:8800 PDGFRB gene PDGFRB Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 4, OMIM:615007 27984190;23255827;26129893;25292412 False 3 0;100;0 5.5 False ENSG00000113721 ENSG00000113721 HGNC:8804 PINK1 gene PINK1 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 6, early onset, OMIM:605909 16009891;15955954;17030667;20356854 False 3 50;50;0 5.5 False ENSG00000158828 ENSG00000158828 HGNC:14581 PLA2G6 gene PLA2G6 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 14, autosomal recessive, OMIM:612953;Neurodegeneration with brain iron accumulation 2B, OMIM:610217 18570303;16783378;18799783;20938027;21700586 False 3 50;50;0 5.5 False ENSG00000184381 ENSG00000184381 HGNC:9039 PNKD gene PNKD Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paroxysmal nonkinesigenic dyskinesia 1, OMIM:118800 http://www.ncbi.nlm.nih.gov/books/NBK1155/;15262732;15496428;15824259 False 3 50;50;0 5.5 False ENSG00000127838 ENSG00000127838 HGNC:9153 PPP2R5D gene PPP2R5D Expert Review Green;Literature Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 35 OMIM:616355;intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO:0014602 33338668;32743835;30615140 False 3 100;0;0 5.5 False ENSG00000112640 ENSG00000112640 HGNC:9312 PRKN gene PRKN Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease, juvenile, type 2, OMIM:600116 22956510 False 3 50;50;0 5.5 False ENSG00000185345 ENSG00000185345 HGNC:8607 PRKRA gene PRKRA Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia 16, OMIM:612067 18420150;18243799;22842711;24142417;25142429;25737287;25914261;26990861 False 3 50;50;0 5.5 False ENSG00000180228 ENSG00000180228 HGNC:9438 PRNP gene PRNP Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral amyloid angiopathy, PRNP-related, OMIM:137440;Huntington disease-like 1, OMIM:603218;Gerstmann-Straussler disease, OMIM:137440;Creutzfeldt-Jakob disease, OMIM:123400 False 3 50;50;0 5.5 False ENSG00000171867 ENSG00000171867 HGNC:9449 PRRT2 gene PRRT2 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic kinesigenic dyskinesia 1, OMIM:128200;Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066 22744660;http://www.ncbi.nlm.nih.gov/books/NBK1155/;22101681;22120146;22399141 False 3 50;50;0 5.5 False ENSG00000167371 ENSG00000167371 HGNC:30500 RAB39B gene RAB39B Expert Review Green;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) Waisman syndrome, OMIM:311510 27838047;27459931;27066548;26399558;2639955;27448726;27943471;25434005;27694831 False 3 50;50;0 5.5 False ENSG00000155961 ENSG00000155961 HGNC:16499 RNF216 gene RNF216 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840 False 3 50;50;0 5.5 False ENSG00000011275 ENSG00000011275 HGNC:21698 SGCE gene SGCE Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Dystonia-11, myoclonic, OMIM:159900 http://www.ncbi.nlm.nih.gov/books/NBK1155/;12325078;11528394 False 3 50;50;0 5.5 False ENSG00000127990 ENSG00000127990 HGNC:10808 SLC19A3 gene SLC19A3 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), OMIM:607483 False 3 0;100;0 5.5 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC20A2 gene SLC20A2 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 1, OMIM:213600 False 3 50;50;0 5.5 False ENSG00000168575 ENSG00000168575 HGNC:10947 SLC2A1 gene SLC2A1 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Dystonia 9, OMIM:601042;GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777;GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126 18451999;http://www.ncbi.nlm.nih.gov/books/NBK1155/;19630075;18577546 False 3 50;50;0 5.5 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC30A10 gene SLC30A10 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 1, OMIM:613280 22341971;22341972;22926781;22934317;25778823 False 3 50;50;0 5.5 False ENSG00000196660 ENSG00000196660 HGNC:25355 SNCA gene SNCA Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dementia, Lewy body, OMIM:127750;Parkinson disease 4, OMIM:605543;Parkinson disease 1, OMIM:168601 False 3 50;50;0 5.5 False Other - please provide details in the comments ENSG00000145335 ENSG00000145335 HGNC:11138 SPG11 gene SPG11 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 11, autosomal recessive, OMIM:604360;Charcot-Marie-Tooth disease, axonal, type 2X, OMIM:616668;Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099 27820618;19224311;21381113 False 3 50;50;0 5.5 False ENSG00000104133 ENSG00000104133 HGNC:11226 SYNJ1 gene SYNJ1 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 20, early-onset, OMIM:615530 27435091;27496670;26149920;23804563;23804577 False 3 50;50;0 5.5 False ENSG00000159082 ENSG00000159082 HGNC:11503 TBK1 gene TBK1 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, OMIM:616439 False 3 50;50;0 5.5 False ENSG00000183735 ENSG00000183735 HGNC:11584 THAP1 gene THAP1 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 6, torsion, OMIM:602629 http://www.ncbi.nlm.nih.gov/books/NBK1155/;21793105 False 3 50;50;0 5.5 False ENSG00000131931 ENSG00000131931 HGNC:20856 TIMM8A gene TIMM8A Expert Review Green;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Mohr-Tranebjaerg syndrome, OMIM:304700 22736418;32820032 False 3 50;50;0 5.5 False ENSG00000126953 ENSG00000126953 HGNC:11817 TOR1A gene TOR1A Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia-1, torsion, OMIM:128100;Dystonic disorder, MONDO:0003441 16537570;9288096;20301665;http://www.ncbi.nlm.nih.gov/books/NBK1155/;17503336;11523564 False 3 50;50;0 5.5 False ENSG00000136827 ENSG00000136827 HGNC:3098 TUBB4A gene TUBB4A Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 4, torsion, autosomal dominant, OMIM:128101 27809427;24526230;24850488;23582646 False 3 50;50;0 5.5 False ENSG00000104833 ENSG00000104833 HGNC:20774 VPS13A gene VPS13A Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Choreoacanthocytosis, OMIM:200150 11381253;11381254;14663054 False 3 50;50;0 5.5 False ENSG00000197969 ENSG00000197969 HGNC:1908 VPS16 gene VPS16 Expert Review Green;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 30, OMIM:619291;Dystonia Associated with Lysosomal Abnormalities 27174565;32808683;33305852;33482438;33595841;33998058 False 3 100;0;0 5.5 False ENSG00000215305 ENSG00000215305 HGNC:14584 VPS35 gene VPS35 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkinson disease 17, OMIM:614203 23408866;21763483;21763482;26547032;22991136;27777137;22517097;24854799;35766879 False 3 50;50;0 5.5 False ENSG00000069329 ENSG00000069329 HGNC:13487 WDR45 gene WDR45 Expert Review Green;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) Neurodegeneration with brain iron accumulation 5, OMIM:300894 23435086;22892189;23176820 False 3 50;50;0 5.5 False ENSG00000196998 ENSG00000196998 HGNC:28912 XK gene XK Expert Review Green;Literature;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) McLeod syndrome, OMIM:300842 8619554;21714011;11761473;17469188;23192927;37720304;34487382;35977449;24098554;39315078 False 3 100;0;0 5.5 False ENSG00000047597 ENSG00000047597 HGNC:12811 XPR1 gene XPR1 Expert Review Green;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 6, OMIM:616413 25938945 False 3 50;50;0 5.5 False ENSG00000143324 ENSG00000143324 HGNC:12827 ARX gene ARX Expert Review Amber;NHS GMS;South West GLH 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) Developmental and epileptic encephalopathy 1, OMIM:308350;X-linked spasticity-intellectual disability-epilepsy syndromeMONDO:0017856;Partington syndrome, OMIM:309510;Partington syndrome, MONDO:0010654 29343471;17664398;26029707;31324350;29778428;23657928 False 2 0;100;0 5.5 False Other ENSG00000004848 ENSG00000004848 HGNC:18060 AUH gene AUH Expert Review Amber;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology 3-methylglutaconic aciduria, type I, OMIM:250950;Dystonia False 2 0;100;0 5.5 False ENSG00000148090 ENSG00000148090 HGNC:890 CHCHD2 gene CHCHD2 Expert Review Amber;London North GLH;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinson disease 22, autosomal dominant, OMIM:616710 Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015;26067110;26067114;25662902 False 2 0;67;33 5.5 False ENSG00000106153 ENSG00000106153 HGNC:21645 CIZ1 gene CIZ1 Expert Review Amber;London North GLH;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Dystonia 23, 614860 22447717 False 2 0;67;33 5.5 False ENSG00000148337 ENSG00000148337 HGNC:16744 DDC gene DDC Expert Review Amber;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency, OMIM:608643;Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 19172410 False 2 0;100;0 5.5 False ENSG00000132437 ENSG00000132437 HGNC:2719 EIF4G1 gene EIF4G1 Expert Review Amber;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkinsons disease 18, 614251 25368108 False 2 0;100;0 5.5 False ENSG00000114867 ENSG00000114867 HGNC:3296 FOXG1 gene FOXG1 Expert Review Amber;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Rett Syndrome, congenital variant, 613454;Dystonia 27029630;29086067 False 2 0;100;0 5.5 False ENSG00000176165 ENSG00000176165 HGNC:3811 GLB1 gene GLB1 Expert Review;Expert Review Amber Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type III, 230650 1909089;1907800;8198123 False 2 100;0;0 5.5 False ENSG00000170266 ENSG00000170266 HGNC:4298 PDE2A gene PDE2A Expert Review Amber;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with paroxysmal dyskinesia or seizures, OMIM:619150 False 2 50;50;0 5.5 False ENSG00000186642 ENSG00000186642 HGNC:8777 PLP1 gene PLP1 Expert Review Amber;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Pelizaeus-Merzbacher disease, 312080;Spastic paraplegia 2, X-linked, 312920;Dystonia 30046645;11093273 False 2 0;100;0 5.5 False ENSG00000123560 ENSG00000123560 HGNC:9086 PTS gene PTS Expert Review Amber;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology Hyperphenylalaninemia, BH4-deficient, A, 261640;Dystonia 26919687 False 2 0;100;0 5.5 False ENSG00000150787 ENSG00000150787 HGNC:9689 QDPR gene QDPR Expert Review Amber;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, C, 261630;Dystonia 19491146;26919687;10677304 False 2 0;100;0 5.5 False ENSG00000151552 ENSG00000151552 HGNC:9752 TAF1 gene TAF1 Expert Review Amber;London North GLH;NHS GMS;South West GLH 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) Dystonia-Parkinsonism, X-linked, OMIM:314250 26637982;23184149;17668393;17273961;26769797;2368812;20301662;26879577;http://www.ncbi.nlm.nih.gov/books/NBK1155/;12928496 False 2 33;67;0 5.5 False Other - please provide details in the comments ENSG00000147133 ENSG00000147133 HGNC:11535 UCHL1 gene UCHL1 Expert Review Amber;NHS GMS;South West GLH Adult onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal {?Parkinson disease 5, susceptibility to}, OMIM:613643;Parkinson disease 5, autosomal dominant, susceptibility to, MONDO:0013340;Spastic paraplegia 79B, autosomal recessive, OMIM:615491;early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209;Spastic paraplegia 79A, autosomal dominant, OMIM:620221 28007905;23359680;29735986;10048490;35986737 False 2 0;100;0 5.5 False ENSG00000154277 ENSG00000154277 HGNC:12513 VAMP2 gene VAMP2 Expert Review Amber;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, OMIM:618760 30929742 False 2 50;50;0 5.5 False ENSG00000220205 ENSG00000220205 HGNC:12643 VPS41 gene VPS41 Expert Review Amber;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Generalised Neurodevelopmental disorder;Ataxia;Dystonia 32808683;33764426;33851776 False 2 50;50;0 5.5 False ENSG00000006715 ENSG00000006715 HGNC:12713 YY1 gene YY1 Expert Review Amber;London North GLH;NHS GMS Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gabriele-de Vries syndrome, OMIM:617557 28575647 False 2 0;100;0 5.5 False ENSG00000100811 ENSG00000100811 HGNC:12856 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 ATN1_CAG str ATN1 NHS GMS;Expert Review Green;Expert list Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentatorubral-pallidoluysian atrophy, OMIM:125370 20301664;8136840;20301664;8136840;8136826;7614090 False 3 0;0;0 5.5 False ENSG00000111676 ENSG00000111676 HGNC:3033 12 7045880 7045936 6936717 6936772 CAG 36 48 ATXN1_CAG str ATXN1 Expert Review Green;NHS GMS;Expert list Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 1, OMIM:164400 False 3 100;0;0 5.5 False ENSG00000124788 ENSG00000124788 HGNC:10548 6 16327867 16327953 16327636 16327722 CAG 36 45 ATXN2_CAG str ATXN2 Expert Review Green;NHS GMS;London North GLH;Expert list Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 2, OMIM:183090;{Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090;{Parkinson disease, late-onset, susceptibility to}, OMIM:168600 False 3 100;0;0 5.5 False ENSG00000204842 ENSG00000204842 HGNC:10555 12 112036755 112036823 111598951 111599019 CAG 32 35 ATXN3_CAG str ATXN3 Expert Review Green;NHS GMS;London North GLH;Expert list Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Machado-Joseph disease, OMIM:109150 False 3 100;0;0 5.5 False ENSG00000066427 ENSG00000066427 HGNC:7106 14 92537355 92537396 92071011 92071052 CAG 45 60 C9orf72_GGGGCC str C9orf72 NHS GMS;London North GLH;Expert Review Green;Expert list Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 False 3 100;0;0 5.5 False ENSG00000147894 ENSG00000147894 HGNC:28337 9 27573527 27573544 27573529 27573546 GGGGCC 24 200 CACNA1A_CAG str CACNA1A Expert Review Green;NHS GMS;Expert list Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 6, OMIM:183086 False 3 100;0;0 5.5 False ENSG00000141837 ENSG00000141837 HGNC:1388 19 13318673 13318711 13207859 13207897 CAG 19 20 CSTB_CCCCGCCCCGCG str CSTB Expert Review Green;NHS GMS;Expert list Adult onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 False 3 100;0;0 5.5 False ENSG00000160213 ENSG00000160213 HGNC:2482 21 45196328 45196351 43776429 43776470 CCCCGCCCCGCG 18 30 JPH3_CTG str JPH3 NHS GMS;London North GLH;Expert Review Green;Expert list Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Huntington disease-like 2, OMIM:606438 False 3 100;0;0 5.5 False ENSG00000154118 ENSG00000154118 HGNC:14203 16 87637894 87637932 87604288 87604326 CTG 29 40 PPP2R2B_CAG str PPP2R2B Expert Review Green;NHS GMS;Expert list Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 12, OMIM:604326 False 3 100;0;0 5.5 False ENSG00000156475 ENSG00000156475 HGNC:9305 5 146258292 146258321 146878729 146878758 CAG 33 43 TBP_CAG str TBP NHS GMS;London North GLH;Expert Review Green;Expert list Adult onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 17, OMIM:607136;{Parkinson disease, susceptibility to}, OMIM:168600 20301611 False 3 100;0;0 5.5 False ENSG00000112592 ENSG00000112592 HGNC:11588 6 170870996 170871109 170561908 170562021 CAG 41 49 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