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 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