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 AAAS gene AAAS Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome, OMIM:231550;Triple-A syndrome, MONDO:0009279 False 2 0;100;0 7.20 False ENSG00000094914 ENSG00000094914 HGNC:13666 AASS gene AASS Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hyperlysinemia, OMIM:238700;Hyperlysinemia (disease), MONDO:0009388 False 2 0;100;0 7.20 False ENSG00000008311 ENSG00000008311 HGNC:17366 ABCB7 gene ABCB7 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, sideroblastic, with ataxia, 301310 False 2 0;100;0 7.20 False ENSG00000131269 ENSG00000131269 HGNC:48 ACSF3 gene ACSF3 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Combined malonic and methylmalonic aciduria, 614265 False 2 0;100;0 7.20 False ENSG00000176715 ENSG00000176715 HGNC:27288 AFG3L2 gene AFG3L2 Expert Review Amber;London North GLH;NHS GMS;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic ataxia 5, autosomal recessive, OMIM:614487 22964162;16541453;32219868;25401298 False 2 20;40;40 7.20 False ENSG00000141385 ENSG00000141385 HGNC:315 ANO10 gene ANO10 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 10, 613728 False 2 0;100;0 7.20 False ENSG00000160746 ENSG00000160746 HGNC:25519 ATCAY gene ATCAY Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia, cerebellar, Cayman type, 601238 False 2 0;100;0 7.20 False ENSG00000167654 ENSG00000167654 HGNC:779 AUH gene AUH Expert Review Amber;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type I, 250950 False 2 0;50;50 7.20 False ENSG00000148090 ENSG00000148090 HGNC:890 CA8 gene CA8 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 19461874;21937992 False 2 0;100;0 7.20 False ENSG00000178538 ENSG00000178538 HGNC:1382 CIZ1 gene CIZ1 Expert Review Amber;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology Unknown Dystonia 23, 614860 False 2 0;50;50 7.20 False ENSG00000148337 ENSG00000148337 HGNC:16744 CLN8 gene CLN8 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 8, 600143 False 2 0;100;0 7.20 False ENSG00000182372 ENSG00000182372 HGNC:2079 COL6A3 gene COL6A3 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia 27, OMIM:616411 26004199;32037012;26872670 False 2 33;67;0 7.20 False ENSG00000163359 ENSG00000163359 HGNC:2213 CTSD gene CTSD Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 10, 610127 False 2 0;100;0 7.20 False ENSG00000117984 ENSG00000117984 HGNC:2529 CWF19L1 gene CWF19L1 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 17, 616127 False 2 0;100;0 7.20 False ENSG00000095485 ENSG00000095485 HGNC:25613 CYP27A1 gene CYP27A1 Expert Review Amber;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology Unknown Cerebrotendinous xanthomatosis, CTX, 213700 False 2 0;100;0 7.20 False ENSG00000135929 ENSG00000135929 HGNC:2605 DNAJC5 gene DNAJC5 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 False 2 0;100;0 7.20 False ENSG00000101152 ENSG00000101152 HGNC:16235 ELOVL4 gene ELOVL4 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ichthyosis, spastic quadriplegia, and mental retardation, 614457 False 2 0;100;0 7.20 False ENSG00000118402 ENSG00000118402 HGNC:14415 FGF14 gene FGF14 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 27, 609307 False 2 0;100;0 7.20 False ENSG00000102466 ENSG00000102466 HGNC:3671 GRID2 gene GRID2 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 18, 616204 False 2 0;100;0 7.20 False ENSG00000152208 ENSG00000152208 HGNC:4576 GRM1 gene GRM1 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia 44, 617691;Spinocerebellar ataxia, autosomal recessive 13, 614831 False 2 0;100;0 7.20 False ENSG00000152822 ENSG00000152822 HGNC:4593 HCN2 gene HCN2 Expert Review Amber;Literature Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Generalized epilepsy with febrile seizures plus, type 11, OMIM:602477;neurodevelopmental disorder, MONDO:0700092 40468825 False 2 100;0;0 7.20 False ENSG00000099822 ENSG00000099822 HGNC:4846 HTT gene HTT Expert Review Amber;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Lopes-Maciel-Rodan syndrome, OMIM:617435;LOMARS 26740508;27329733;33432339 False 2 0;0;100 7.20 False ENSG00000197386 ENSG00000197386 HGNC:4851 ITPR1 gene ITPR1 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 15, 606658 False 2 0;100;0 7.20 False ENSG00000150995 ENSG00000150995 HGNC:6180 KCNC3 gene KCNC3 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 13, 605259 False 2 0;100;0 7.20 False ENSG00000131398 ENSG00000131398 HGNC:6235 KCND3 gene KCND3 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 19, 607346 False 2 0;100;0 7.20 False ENSG00000171385 ENSG00000171385 HGNC:6239 KIF1A gene KIF1A Expert Review Amber;Literature Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NESCAV syndrome, OMIM:614255 32096284;32935419 False 2 100;0;0 7.20 False ENSG00000130294 ENSG00000130294 HGNC:888 MAL gene MAL Expert Review Amber;Literature Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal developmental delay;nystagmus;progressive motor deterioration;dysmyelination 35217805 False 2 0;100;0 7.20 False ENSG00000172005 ENSG00000172005 HGNC:6817 PCDH12 gene PCDH12 Expert Review Amber;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal perithalamic hyperechogenicity;midbrain abnormalities;microcephaly;hypothalamic abnormalities;intellectual disability;periventricular hyperechogenicity. Microcephaly, seizures, spasticity, and brain calcification, 251280;epilepsy False 2 0;100;0 7.20 False ENSG00000113555 ENSG00000113555 HGNC:8657 PDYN gene PDYN Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology Spinocerebellar ataxia 23, 610245 False 2 0;100;0 7.20 False ENSG00000101327 ENSG00000101327 HGNC:8820 PLP1 gene PLP1 Expert Review Amber;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Spastic paraplegia 2, X-linked, 312920;Pelizaeus-Merzbacher disease, 312080 False 2 0;100;0 7.20 False ENSG00000123560 ENSG00000123560 HGNC:9086 PRKCG gene PRKCG Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 14, 605361 False 2 0;100;0 7.20 False ENSG00000126583 ENSG00000126583 HGNC:9402 PTPN1 gene PTPN1 Expert Review Amber;Literature Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Encephalopathy, HP:0001298;dystonia, early-onset, and/or spastic paraplegia, MONDO:0859215 10066179;39986310 False 2 100;0;0 7.20 False ENSG00000196396 ENSG00000196396 HGNC:9642 RNASEH2A gene RNASEH2A Expert Review Amber;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4, 610333 False 2 0;50;50 7.20 False ENSG00000104889 ENSG00000104889 HGNC:18518 SACS gene SACS Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type, 270550 False 2 0;100;0 7.20 False ENSG00000151835 ENSG00000151835 HGNC:10519 SIL1 gene SIL1 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Marinesco-Sjogren syndrome, 248800 False 2 0;100;0 7.20 False ENSG00000120725 ENSG00000120725 HGNC:24624 SLC1A3 gene SLC1A3 Expert Review Amber;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPISODIC ATAXIA, TYPE 6 19139306;16116111;27829685 False 2 0;100;0 7.20 False ENSG00000079215 ENSG00000079215 HGNC:10941 SLC6A5 gene SLC6A5 Expert Review Amber;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 3, 614618 16751771 False 2 0;100;0 7.20 False ENSG00000165970 ENSG00000165970 HGNC:11051 SNX14 gene SNX14 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 20, 616354 False 2 0;100;0 7.20 False ENSG00000135317 ENSG00000135317 HGNC:14977 SPG7 gene SPG7 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive, OMIM:607259;hereditary spastic paraplegia 7, MONDO:0011803 False 2 0;100;0 7.20 False ENSG00000197912 ENSG00000197912 HGNC:11237 STUB1 gene STUB1 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768;autosomal recessive spinocerebellar ataxia 16, MONDO:0014339;Spinocerebellar ataxia 48, OMIM:618093;spinocerebellar ataxia 48, MONDO:0032526 25592071;30381368;32713943;33564152;35493319;34906452 False 2 0;100;0 7.20 False ENSG00000103266 ENSG00000103266 HGNC:11427 TGM6 gene TGM6 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 35, 613908 False 2 0;100;0 7.20 False ENSG00000166948 ENSG00000166948 HGNC:16255 TMEM240 gene TMEM240 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 21, 607454 False 2 0;100;0 7.20 False ENSG00000205090 ENSG00000205090 HGNC:25186 TPP1 gene TPP1 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 7, 609270 False 2 0;100;0 7.20 False ENSG00000166340 ENSG00000166340 HGNC:2073 TTBK2 gene TTBK2 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 11, 604432 False 2 0;100;0 7.20 False ENSG00000128881 ENSG00000128881 HGNC:19141 WFS1 gene WFS1 Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wolfram syndrome 1, 222300 False 2 0;100;0 7.20 False ENSG00000109501 ENSG00000109501 HGNC:12762 WWOX gene WWOX Expert Review Amber;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 12, 614322 False 2 0;100;0 7.20 False ENSG00000186153 ENSG00000186153 HGNC:12799