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 ABAT gene ABAT Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal GABA-transaminase deficiency 613163 False 3 100;0;0 7.20 False ENSG00000183044 ENSG00000183044 HGNC:23 ACBD6 gene ACBD6 Expert Review Green;NHS GMS Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785 21937992;32108178;36457943;37951597 False 3 50;0;50 7.20 False ENSG00000230124 ENSG00000230124 HGNC:23339 ACER3 gene ACER3 Expert Review Green;Literature;NHS GMS Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, progressive, early childhood-onset, OMIM:617762 26792856;32816236;34281620 False 3 67;33;0 7.20 False ENSG00000078124 ENSG00000078124 HGNC:16066 ACOX1 gene ACOX1 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470 False 3 100;0;0 7.20 False ENSG00000161533 ENSG00000161533 HGNC:119 ACTB gene ACTB Expert Review Green;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Dystonia, juvenile-onset;Baraitser-Winter syndrome 1, 243310 16685646 False 3 100;0;0 7.20 False ENSG00000075624 ENSG00000075624 HGNC:132 ADAR gene ADAR Expert Review Green;London North GLH;NHS GMS;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, OMIM:615010;Dyschromatosis symmetrica hereditaria, OMIM:127400 28139822;23001123 False 3 100;0;0 7.20 False ENSG00000160710 ENSG00000160710 HGNC:225 ADCY5 gene ADCY5 Expert Review Green;London North GLH;NHS GMS;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskinesia with orofacial involvement, autosomal dominant, OMIM:606703;dyskinesia with orofacial involvement, autosomal dominant, MONDO:0800028;Dyskinesia with orofacial involvement, autosomal recessive, OMIM:619647;dyskinesia with orofacial involvement, autosomal recessive, MONDO:0030625;Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, OMIM:619651;neurodevelopmental disorder with hyperkinetic movements and dyskinesia, MONDO:0859211 11310626;24700542;28971144;30975617;33704598;34631954 False 3 100;0;0 7.20 False ENSG00000173175 ENSG00000173175 HGNC:236 ALDH18A1 gene ALDH18A1 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cutis laxa, autosomal dominant 3 OMIM:616603;cutis laxa, autosomal dominant 3 MONDO:0014706;Cutis laxa, autosomal recessive, type IIIA OMIM:219150;ALDH18A1-related de Barsy syndromeMONDO:0009053;Spastic paraplegia 9A, autosomal dominant OMIM:601162;hereditary spastic paraplegia 9A MONDO:0011006;Spastic paraplegia 9B, autosomal recessive OMIM:616586;autosomal recessive complex spastic paraplegia type 9B MONDO:0014702 False 3 50;0;50 7.20 False ENSG00000059573 ENSG00000059573 HGNC:9722 ANO3 gene ANO3 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 24, 615034;familial form of cranio-cervical dystonia 25847575;24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis;23200863;24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor;27392807;24442708 False 3 100;0;0 7.20 False ENSG00000134343 ENSG00000134343 HGNC:14004 AP1S2 gene AP1S2 Expert Review Green;London North GLH;PanelApp Childhood 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;Dystonia 10398241;12599187;17186471;17617514;18428203;19377476;22210230;23756445;25649377;30383884;30714330 False 3 100;0;0 7.20 False ENSG00000182287 ENSG00000182287 HGNC:560 APTX gene APTX Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia;Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 False 3 100;0;0 7.20 False ENSG00000137074 ENSG00000137074 HGNC:15984 ARFGEF3 gene ARFGEF3 Expert Review Green;Literature;NHS GMS Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted early-onset generalized dystonia, MONDO:0100016 33098801 False 3 100;0;0 7.20 False ENSG00000112379 ENSG00000112379 HGNC:21213 ARSA gene ARSA Expert Review Green;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy, 250100 False 3 50;50;0 7.20 False ENSG00000100299 ENSG00000100299 HGNC:713 ARX gene ARX Expert Review Green;NHS GMS;South West GLH Childhood 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 3 67;33;0 7.20 False ENSG00000004848 ENSG00000004848 HGNC:18060 ASL gene ASL Expert Review Green;London North GLH;NHS GMS Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Argininosuccinic aciduria, OMIM:207900;argininosuccinic aciduria, MONDO:0008815;tremor, HP:0001337;Dystonia, HP:0001332 12384776;17326097;29326055;38044746;28251416 False 3 67;0;33 7.20 False ENSG00000126522 ENSG00000126522 HGNC:746 ATM gene ATM Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, OMIM:208900 False 3 100;0;0 7.20 False ENSG00000149311 ENSG00000149311 HGNC:795 ATP13A2 gene ATP13A2 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Kufor-Rakeb syndrome 606693;Parkinson disease;Dystonia 21060012 False 3 100;0;0 7.20 False ENSG00000159363 ENSG00000159363 HGNC:30213 ATP1A2 gene ATP1A2 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted familial basilar migraine 602481;familial hemiplegic migraine type 2, 602481;alternating hemiplegia of childhood 104290;Dystonia;migraine 18056581;12953268;12539047 False 3 100;0;0 7.20 False ENSG00000018625 ENSG00000018625 HGNC:800 ATP1A3 gene ATP1A3 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DYSTONIA 12, 128235;Rapid-Onset Dystonia-Parkinsonism;Dystonia-12, 128235;ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820 22850527;22842232;20301334 False 3 100;0;0 7.20 False ENSG00000105409 ENSG00000105409 HGNC:801 ATP5G3 gene ATP5G3 Expert Review Green;Literature;NHS GMS Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681 34636445;34954817 False 3 100;0;0 7.20 False ENSG00000154518 ENSG00000154518 HGNC:843 ATP7B gene ATP7B Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Wilson disease 277900;Dystonia 20301685 False 3 100;0;0 7.20 False ENSG00000123191 ENSG00000123191 HGNC:870 BCAP31 gene BCAP31 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS;Deafness, dystonia and cerebellar hypomyelination, 300475 28332767;24011989 False 3 100;0;0 7.20 False ENSG00000185825 ENSG00000185825 HGNC:16695 BCS1L gene BCS1L Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, 256000;Bjornstad syndrome, 262000;Mitochondrial complex III deficiency, nuclear type 1, 124000 False 3 50;50;0 7.20 False ENSG00000074582 ENSG00000074582 HGNC:1020 C19orf12 gene C19orf12 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Spastic paraplegia 43, autosomal recessive, OMIM:615043;Neurodegeneration with brain iron accumulation 4, OMIM: 614298 21981780;29295770;31087512 False 3 100;0;0 7.20 False ENSG00000131943 ENSG00000131943 HGNC:25443 CACNA1A gene CACNA1A Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 2, OMIM:108500 21734179;17575281 False 3 100;0;0 7.20 False ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1G gene CACNA1G Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 618087;Spinocerebellar ataxia 42 616795 False 3 100;0;0 7.20 False ENSG00000006283 ENSG00000006283 HGNC:1394 CAMK4 gene CAMK4 Expert Review Green;Literature;Other Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Autism;Behavioral abnormality;Abnormality of movement;Dystonia;Ataxia;Chorea;Myoclonus 30262571;33098801;33211350 False 3 100;0;0 7.20 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000152495 ENSG00000152495 HGNC:1464 CLN3 gene CLN3 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 3, 204200 False 3 100;0;0 7.20 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5 OMIM:256731;neuronal ceroid lipofuscinosis 5 MONDO:0009745 False 3 100;0;0 7.20 False ENSG00000102805 ENSG00000102805 HGNC:2076 CLPB gene CLPB Expert Review Green;London North GLH;NHS GMS Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271;3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835;Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813 28687938;34140661 False 3 100;0;0 7.20 False ENSG00000162129 ENSG00000162129 HGNC:30664 COASY gene COASY Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 6 615643;COASY protein-associated neurodegeneration 11980892;25778941;24360804;27021474;28489334;30089828;36495139 False 3 100;0;0 7.20 False ENSG00000068120 ENSG00000068120 HGNC:29932 COX10 gene COX10 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 10767350 False 3 100;0;0 7.20 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX15 gene COX15 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 False 3 100;0;0 7.20 False ENSG00000014919 ENSG00000014919 HGNC:2263 COX20 gene COX20 Expert Review Green;London North GLH;NHS GMS Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054 30656193;33751098;24202787 False 3 67;0;33 7.20 False ENSG00000203667 ENSG00000203667 HGNC:26970 CSTB gene CSTB Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800;Unverricht-Lundborg syndrome MONDO:0009698 26843564 False 3 33;67;0 7.20 False ENSG00000160213 ENSG00000160213 HGNC:2482 DCAF17 gene DCAF17 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia;Woodhouse-Sakati syndrome, 241080 False 3 100;0;0 7.20 False ENSG00000115827 ENSG00000115827 HGNC:25784 DCC gene DCC Expert Review Green;London North GLH;NHS GMS Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mirror movements 1 and/or agenesis of the corpus callosum, OMIM:157600 19127048;19720981;20431009;21242494;28250454;31697046 False 3 67;0;33 7.20 False ENSG00000187323 ENSG00000187323 HGNC:2701 DDC gene DDC Expert Review Green;London North GLH;PanelApp Childhood 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 27830117;27604308;24816252;28100251;30952622 False 3 100;0;0 7.20 False ENSG00000132437 ENSG00000132437 HGNC:2719 DHDDS gene DHDDS Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay and seizures with or without movement abnormalities, OMIM:617836 29100083;32654954;33798445;34182312;34382076;34504728 False 3 50;0;50 7.20 False ENSG00000117682 ENSG00000117682 HGNC:20603 DLAT gene DLAT Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase E2 deficiency 245348;Dystonia 16049940;19891062 False 3 100;0;0 7.20 False ENSG00000150768 ENSG00000150768 HGNC:2896 DLD gene DLD Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dihydrolipoamide dehydrogenase deficiency, OMIM:246900 False 3 100;0;0 7.20 False ENSG00000091140 ENSG00000091140 HGNC:2898 DNAJC12 gene DNAJC12 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 28132689 False 3 100;0;0 7.20 False ENSG00000108176 ENSG00000108176 HGNC:28908 DNAJC6 gene DNAJC6 Expert Review Green;Literature;NHS GMS Childhood 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 22563501;23211418;26528954;34175496;26703368;33181391;32472658 False 3 67;33;0 7.20 False ENSG00000116675 ENSG00000116675 HGNC:15469 ECHS1 gene ECHS1 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277 False 3 100;0;0 7.20 False ENSG00000127884 ENSG00000127884 HGNC:3151 EIF2AK2 gene EIF2AK2 Expert Review Green;Literature Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877 32197074;33236446;33866603 False 3 100;0;0 7.20 False ENSG00000055332 ENSG00000055332 HGNC:9437 FA2H gene FA2H Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal fatty acid hydroxylase-associated neurodegeneration;Dystonia;Spastic paraplegia 35, autosomal recessive, OMIM:612319;hereditary spastic paraplegia 35, MONDO:0012866 19068277 False 3 100;0;0 7.20 False ENSG00000103089 ENSG00000103089 HGNC:21197 FBXO7 gene FBXO7 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 15, autosomal recessive, 260300;juvenile parkinsonism;Dystonia False 3 100;0;0 7.20 False ENSG00000100225 ENSG00000100225 HGNC:13586 FITM2 gene FITM2 Expert list;Expert Review Green Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Siddiqi syndrome OMIM:618635;siddiqi syndrome MONDO:0032842 28067622;30214770;30288795 False 3 100;0;0 7.20 False ENSG00000197296 ENSG00000197296 HGNC:16135 FOLR1 gene FOLR1 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, 613068;Folate receptor alpha deficiency 27830117;21937992;19732866;2044715 False 3 100;0;0 7.20 False ENSG00000110195 ENSG00000110195 HGNC:3791 FOXG1 gene FOXG1 Expert Review Green;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rett Syndrome, congenital variant OMIM:613454;Rett syndrome, congenital variant MONDO:0013270 21441262;19564653;19578037;27029630;34399161;31316448 False 3 67;33;0 7.20 False ENSG00000176165 ENSG00000176165 HGNC:3811 FOXRED1 gene FOXRED1 Expert Review Green;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 19, 618241 False 3 50;0;50 7.20 False ENSG00000110074 ENSG00000110074 HGNC:26927 FTL gene FTL Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration with brain iron accumulation 3 606159 False 3 100;0;0 7.20 False ENSG00000087086 ENSG00000087086 HGNC:3999 FUCA1 gene FUCA1 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Fucosidosis OMIM:230000;fucosidosis MONDO:0009254 31064022 False 3 67;0;33 7.20 False ENSG00000179163 ENSG00000179163 HGNC:4006 FXN gene FXN Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia OMIM:229300;Friedreich ataxia with retained reflexes OMIM:229300;Friedreich ataxia 1 MONDO:0100340 False 3 67;0;33 7.20 False ENSG00000165060 ENSG00000165060 HGNC:3951 GBA gene GBA Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal "Gaucher disease, perinatal lethal, 608013;Gaucher disease, type I, 230800;Gaucher disease, type II, 230900;Gaucher disease, type III 231000;Gaucher disease, type IIIC, 231005" False 3 100;0;0 7.20 False ENSG00000177628 ENSG00000177628 HGNC:4177 GCDH gene GCDH Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia;Glutaricaciduria, type I, 231670 8900227;11174631;8900228;10699052;7795610 False 3 100;0;0 7.20 False ENSG00000105607 ENSG00000105607 HGNC:4189 GCH1 gene GCH1 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dopa-Responsive Dystonia (DRD);Hyperphenylalaninemia, BH4-deficient, B, 233910;Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230;GTP-cyclohydrolase deficiency 3762960;8163996;7730309;10987649;942621;9667588;3822637;7874165;17111153;6734669;1899474;945938;3400489;7869202;10208576;20301334;27830117;12552057;20301681;10732814;12084887;3041760;16908750;11346370;11113234;2296384;15753436 False 3 100;0;0 7.20 False ENSG00000131979 ENSG00000131979 HGNC:4193 GJC2 gene GJC2 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 44, autosomal recessive, 613206;Leukodystrophy, hypomyelinating, 2, 608804 False 3 100;0;0 7.20 False ENSG00000198835 ENSG00000198835 HGNC:17494 GLB1 gene GLB1 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type III, 230650 False 3 100;0;0 7.20 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLRA1 gene GLRA1 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia, hereditary 1, 149400 20301437 False 3 100;0;0 7.20 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLRB gene GLRB Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 2 OMIM:614619;hyperekplexia 2 MONDO:0013828 21391991;23238346;11929858;33323420 False 3 67;0;33 7.20 False ENSG00000109738 ENSG00000109738 HGNC:4329 GM2A gene GM2A Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, AB variant, 272750 False 3 100;0;0 7.20 False ENSG00000196743 ENSG00000196743 HGNC:4367 GNAL gene GNAL Expert Review Green;London North GLH;PanelApp;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 25, 615073 25847575;20301334;24151159;23222958;26810727;24535567;27222887;23759320;25382112;24408567;26506956;23449625;24729450;26725140;26365774;27123488;27093447 False 3 100;0;0 7.20 False ENSG00000141404 ENSG00000141404 HGNC:4388 GNAO1 gene GNAO1 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with involuntary movements, 617493 26060304;27625011;25966631;27068059;28357411 False 3 100;0;0 7.20 False ENSG00000087258 ENSG00000087258 HGNC:4389 GNB1 gene GNB1 Expert list;Expert Review Green Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 42 OMIM:616973;intellectual disability, autosomal dominant 42 MONDO:0014855 27108799;30194818;27668284;31034681 False 3 100;0;0 7.20 False Other ENSG00000078369 ENSG00000078369 HGNC:4396 GRIN1 gene GRIN1 Expert list;Expert Review Green Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254;intellectual disability, autosomal dominant 8 MONDO:0013655;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820;neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629 29365063;27164704;28051072 False 3 100;0;0 7.20 False ENSG00000176884 ENSG00000176884 HGNC:4584 GTPBP2 gene GTPBP2 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Jaberi-Elahi syndrome, 617988 False 3 100;0;0 7.20 False ENSG00000172432 ENSG00000172432 HGNC:4670 HCFC1 gene HCFC1 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 False 3 100;0;0 7.20 False ENSG00000172534 ENSG00000172534 HGNC:4839 HECW2 gene HECW2 Expert Review Green;Literature;NHS GMS Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with hypotonia, seizures, and absent language, OMIM:617268 27389779;27334371;34321324 False 3 100;0;0 7.20 False ENSG00000138411 ENSG00000138411 HGNC:29853 HEXA gene HEXA Expert Review Green;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hex A pseudodeficiency, 272800 AR;GM2-gangliosidosis, several forms, 272800;Tay-Sachs disease, 272800 False 3 50;50;0 7.20 False ENSG00000213614 ENSG00000213614 HGNC:4878 HIBCH gene HIBCH Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal 3-hydroxyisobutryl-CoA hydrolase deficiency 250620 False 3 100;0;0 7.20 False ENSG00000198130 ENSG00000198130 HGNC:4908 HNRNPH1 gene HNRNPH1 Expert Review Green;Literature Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HNRNPH1-related neurodevelopmental disorder;Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083 29938792;32335897 False 3 100;0;0 7.20 False ENSG00000169045 ENSG00000169045 HGNC:5041 HPCA gene HPCA Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal adolescence-onset segmental dystonia;generalized dystonia with additional neurological features;Dystonia 2, torsion, autosomal recessive, 224500;childhood-onset generalized dystonia 25799108;30145809 False 3 100;0;0 7.20 False ENSG00000121905 ENSG00000121905 HGNC:5144 HPRT1 gene HPRT1 Expert Review Green;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Lesch-Nyhan syndrome, OMIM:300322;Dystonia 20176575;20301328;23975452 False 3 33;33;33 7.20 False ENSG00000165704 ENSG00000165704 HGNC:5157 HSD17B10 gene HSD17B10 Expert Review Green;London North GLH;NHS GMS Childhood 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) HSD10 mitochondrial disease, OMIM:300438 12555940;22132097;26950678;27295195;31654490 False 3 67;0;33 7.20 False ENSG00000072506 ENSG00000072506 HGNC:4800 HSPD1 gene HSPD1 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 4, OMIM:612233 18571143;27405012 False 3 100;0;0 7.20 False ENSG00000144381 ENSG00000144381 HGNC:5261 HTRA2 gene HTRA2 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIII 617248 27208207;27696117 False 3 100;0;0 7.20 False ENSG00000115317 ENSG00000115317 HGNC:14348 IFIH1 gene IFIH1 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aicardi-Goutieres syndrome 7, OMIM:615846 False 3 100;0;0 7.20 False ENSG00000115267 ENSG00000115267 HGNC:18873 IMPDH2 gene IMPDH2 Expert Review Green;Literature Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with dystonia 33098801;34305140 False 3 100;0;0 7.20 False ENSG00000178035 ENSG00000178035 HGNC:6053 IRF2BPL gene IRF2BPL Expert list;Expert Review Green Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088;neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759 30057031;28135719;25363768;30166628 False 3 100;0;0 7.20 False ENSG00000119669 ENSG00000119669 HGNC:14282 KCNA1 gene KCNA1 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPISODIC ATAXIA, TYPE 1;myokymia with periodic ataxia 17575281 False 3 100;0;0 7.20 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNMA1 gene KCNMA1 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cerebellar atrophy, developmental delay, and seizures, OMIM:617643;Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551;Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446;Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276;Liang-Wang syndrome, OMIM:618729;Liang-Wang syndrome, MONDO:0032886 26195193;27567911;29545233;31152168;31427379 False 3 100;0;0 7.20 False ENSG00000156113 ENSG00000156113 HGNC:6284 KCNQ2 gene KCNQ2 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 7, OMIM:613720;developmental and epileptic encephalopathy, 7, MONDO:0013387;Myokymia, OMIM:121200;Seizures, benign neonatal, 1, OMIM:121200;seizures, benign familial neonatal, 1, MONDO:0007365 12742592;22275249;22926866;23621294;31418850;35780567;33794528 False 3 33;0;67 7.20 False ENSG00000075043 ENSG00000075043 HGNC:6296 KCTD17 gene KCTD17 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 26, myoclonic False 3 100;0;0 7.20 False ENSG00000100379 ENSG00000100379 HGNC:25705 KIF1C gene KIF1C Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 2, autosomal recessive, OMIM:611302 False 3 100;0;0 7.20 False ENSG00000129250 ENSG00000129250 HGNC:6317 KMT2B gene KMT2B Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 28, childhood-onset, OMIM:617284;Complex early-onset dystonia 27992417 False 3 100;0;0 7.20 False ENSG00000272333 ENSG00000272333 HGNC:15840 L2HGDH gene L2HGDH Expert Review Green;London North GLH;NHS GMS;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal L-2-hydroxyglutaric aciduria, OMIM:236792 15824270;18780161;24753671 False 3 50;25;25 7.20 False ENSG00000087299 ENSG00000087299 HGNC:20499 LRPPRC gene LRPPRC Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, French-Canadian type, 220111 False 3 100;0;0 7.20 False ENSG00000138095 ENSG00000138095 HGNC:15714 MARS2 gene MARS2 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 3, autosomal recessive, 611390 False 3 100;0;0 7.20 False ENSG00000247626 ENSG00000247626 HGNC:25133 MECR gene MECR Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 27817865 False 3 100;0;0 7.20 False ENSG00000116353 ENSG00000116353 HGNC:19691 MED27 gene MED27 Expert Review Green;Literature Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Axial hypotonia;Spasticity;Dystonia;Cerebellar hypoplasia;Cataracts;Epilepsy 33443317 False 3 100;0;0 7.20 False ENSG00000160563 ENSG00000160563 HGNC:2377 MRE11 gene MRE11 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia-like disorder 1, 604391 False 3 100;0;0 7.20 False ENSG00000020922 ENSG00000020922 HGNC:7230 MTFMT gene MTFMT Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 15 OMIM:614947;combined oxidative phosphorylation defect type 15 MONDO:0013987;Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248;mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 False 3 100;0;0 7.20 False ENSG00000103707 ENSG00000103707 HGNC:29666 NDUFA1 gene NDUFA1 Expert Review Green;London North GLH;PanelApp Childhood 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 252010 28247337;17262856;21596602;27604308;19185523 False 3 100;0;0 7.20 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome 256000 28247337;21150889;26741492 False 3 100;0;0 7.20 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA12 gene NDUFA12 Expert Review Green;NHS GMS;PanelApp;South West GLH Childhood 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 3 67;0;33 7.20 False ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFA2 gene NDUFA2 Expert Review Green;London North GLH;PanelApp;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 13 18513682 False 3 33;0;67 7.20 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFAF5 gene NDUFAF5 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 16, 618238 False 3 100;0;0 7.20 False ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFAF6 gene NDUFAF6 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency 256000 27623250;26741492;18614015 False 3 100;0;0 7.20 False ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFS1 gene NDUFS1 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 False 3 100;0;0 7.20 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS4 gene NDUFS4 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010;Leigh syndrome 256000 24020637 False 3 100;0;0 7.20 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS7 gene NDUFS7 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 3, 618224 False 3 100;0;0 7.20 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 2, 618222 False 3 100;0;0 7.20 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010 10080174;26345448 False 3 100;0;0 7.20 False ENSG00000167792 ENSG00000167792 HGNC:7716 NGLY1 gene NGLY1 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation, 615273 False 3 100;0;0 7.20 False ENSG00000151092 ENSG00000151092 HGNC:17646 NKX2-1 gene NKX2-1 Expert Review Green;PanelApp;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978;Chorea, hereditary benign 118700 24555207 False 3 100;0;0 7.20 False ENSG00000136352 ENSG00000136352 HGNC:11825 NKX6-2 gene NKX6-2 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 15601927;28575651 False 3 100;0;0 7.20 False ENSG00000148826 ENSG00000148826 HGNC:19321 NPC1 gene NPC1 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type C1, 257220;Niemann-Pick disease, type D, 257220 False 3 100;0;0 7.20 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Green;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Niemann-pick disease, type C2, 607625 False 3 50;50;0 7.20 False ENSG00000119655 ENSG00000119655 HGNC:14537 NUP54 gene NUP54 Expert Review Green;Literature;NHS GMS Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Early-onset dystonia 36333996 False 3 100;0;0 7.20 False ENSG00000138750 ENSG00000138750 HGNC:17359 NUS1 gene NUS1 Expert Review Green;Literature;NHS GMS Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted movement disorder, MONDO:0005395 32334381;32959737;38291835 False 3 100;0;0 7.20 False ENSG00000153989 ENSG00000153989 HGNC:21042 OPA3 gene OPA3 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type III, 258501 False 3 100;0;0 7.20 False ENSG00000125741 ENSG00000125741 HGNC:8142 PANK2 gene PANK2 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia;pantothenate kinase-associated neurodegeneration;Neurodegeneration with brain iron accumulation 1, 234200 False 3 100;0;0 7.20 False ENSG00000125779 ENSG00000125779 HGNC:15894 PCCA gene PCCA Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Propionicacidemia 606054 6790853;15235904 False 3 100;0;0 7.20 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Propionicacidemia 606054 False 3 100;0;0 7.20 False ENSG00000114054 ENSG00000114054 HGNC:8654 PDE10A gene PDE10A Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Striatal degeneration, autosomal dominant 616922;Dyskinesia, limb and orofacial, infantile-onset 616921 27058447;27058446 False 3 100;0;0 7.20 False ENSG00000112541 ENSG00000112541 HGNC:8772 PDE1B gene PDE1B Expert Review Green;Literature;NHS GMS Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal movement disorder, MONDO:0005395 40492975 False 3 100;0;0 7.20 False ENSG00000123360 ENSG00000123360 HGNC:8775 PDE2A gene PDE2A Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal infantile onset chorea predominant movement disorder False 3 100;0;0 7.20 False ENSG00000186642 ENSG00000186642 HGNC:8777 PDGFB gene PDGFB Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 5, OMIM:615483;basal ganglia calcification, idiopathic, 5, MONDO:0014204 26129893;23913003;30952898;30609140;35747618 False 3 67;0;33 7.20 False ENSG00000100311 ENSG00000100311 HGNC:8800 PDHA1 gene PDHA1 Expert Review Green;London North GLH;PanelApp Childhood 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 3 100;0;0 7.20 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDHX gene PDHX Expert Review Green;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Lacticacidemia due to PDX1 deficiency, 245349 False 3 50;0;50 7.20 False ENSG00000110435 ENSG00000110435 HGNC:21350 PET100 gene PET100 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 False 3 100;0;0 7.20 False ENSG00000229833 ENSG00000229833 HGNC:40038 PINK1 gene PINK1 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 6, early onset, 605909;Dystonia False 3 100;0;0 7.20 False ENSG00000158828 ENSG00000158828 HGNC:14581 PLA2G6 gene PLA2G6 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 2B 610217;Parkinson disease 14, autosomal recessive 612953;Infantile neuroaxonal dystrophy 1 256600;PLA2G6-associated neurodegeneration 16783378;18799783;18570303 False 3 100;0;0 7.20 False ENSG00000184381 ENSG00000184381 HGNC:9039 PNKD gene PNKD Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial Paroxysmal Nonkinesigenic Dyskinesia;PAROXYSMAL NONKINESIGENIC DYSKINESIA 1;Paroxysmal nonkinesigenic dyskinesia, 118800 15496428;20301334;15262732;15824259 False 3 100;0;0 7.20 False ENSG00000127838 ENSG00000127838 HGNC:9153 PNKP gene PNKP Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia-oculomotor apraxia 4, 616267;Microcephaly, seizures, and developmental delay, 613402 False 3 100;0;0 7.20 False ENSG00000039650 ENSG00000039650 HGNC:9154 PNPT1 gene PNPT1 Expert Review Green;London North GLH;NHS GMS;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 13, OMIM:614932;Dystonia 23084291;33158637;33199448 False 3 50;0;50 7.20 False ENSG00000138035 ENSG00000138035 HGNC:23166 POLR3A gene POLR3A Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694;Wiedemann-Rautenstrauch syndrome, 264090 False 3 100;0;0 7.20 False ENSG00000148606 ENSG00000148606 HGNC:30074 PRKN gene PRKN Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia;Parkinson disease, juvenile, type 2, 600116;juvenile parkinsonism/dystonia False 3 100;0;0 7.20 False ENSG00000185345 ENSG00000185345 HGNC:8607 PRKRA gene PRKRA Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia 16, 612067;early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa;Dystonia 22842711;25737287;20301334;18420150;18243799;26990861;25914261;24142417;25142429 False 3 100;0;0 7.20 False ENSG00000180228 ENSG00000180228 HGNC:9438 PRRT2 gene PRRT2 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066;Episodic kinesigenic dyskinesia 1, 128200;dystonia and occasionally hemiplegic migraine and epilepsy;Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions;episodic kinesigenic dyskinesia 22744660;20301334;22399141;22120146;22101681 False 3 100;0;0 7.20 False ENSG00000167371 ENSG00000167371 HGNC:30500 PTS gene PTS Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal 6-Pyruvoyltetrahydropterin Synthase Deficiency;Dystonia;6-Pyruvoyl-tetrahydropterin synthase deficiency;Hyperphenylalaninemia, BH4-deficient, A, 261640 27830117;9450907;8178819;10220141;27604308 False 3 100;0;0 7.20 False ENSG00000150787 ENSG00000150787 HGNC:9689 QDPR gene QDPR Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dihydropteridine reductase deficiency;Hyperphenylalaninemia, BH4-deficient, C, 261630;Dystonia 11746132;27830117;2785251;16917893;11153907;49470;2116088;7627180;317358;53532;27604308;10029353 False 3 100;0;0 7.20 False ENSG00000151552 ENSG00000151552 HGNC:9752 RAB39B gene RAB39B Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Waisman syndrome 311510 27448726;26399558;27838047;25434005;27943471 False 3 100;0;0 7.20 False ENSG00000155961 ENSG00000155961 HGNC:16499 RNASEH2B gene RNASEH2B Expert Review Green;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, OMIM:610181 False 3 50;50;0 7.20 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Green;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 3, 610329 False 3 50;50;0 7.20 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNASET2 gene RNASET2 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, cystic, without megalencephaly, 612951 False 3 100;0;0 7.20 False ENSG00000026297 ENSG00000026297 HGNC:21686 RNU7-1 gene RNU7-1 Expert Review Green;Literature Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 9, OMIM:619487;Type I interferonopathy 33230297 False 3 100;0;0 7.20 False ENSG00000238923 ENSG00000238923 HGNC:34033 SAMHD1 gene SAMHD1 Expert Review Green;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5, 612952 False 3 50;50;0 7.20 False ENSG00000101347 ENSG00000101347 HGNC:15925 SCN1A gene SCN1A Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dravet syndrome;familial hemiplegic migraine 3;several epilepsy, convulsion and migraine disorders. 19332696;16054936;28794249 False 3 67;33;0 7.20 False ENSG00000144285 ENSG00000144285 HGNC:10585 SCN8A gene SCN8A Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Seizures, benign familial infantile, 5, OMIM:617080;Paroxysmal kinesigenic dyskinesias 26677014 False 3 100;0;0 7.20 False ENSG00000196876 ENSG00000196876 HGNC:10596 SERAC1 gene SERAC1 Expert Review Green;London North GLH;PanelApp Childhood 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;16527507;28482397;28778788;29205472;22683713;27604308 False 3 100;0;0 7.20 False ENSG00000122335 ENSG00000122335 HGNC:21061 SETX gene SETX Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 False 3 100;0;0 7.20 False ENSG00000107290 ENSG00000107290 HGNC:445 SGCE gene SGCE Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Myoclonus-Dystonia;maternally imprinted Dystonia-11, myoclonic, 159900;Myoclonus dystonia syndrome 20301334;11528394;12325078 False 3 100;0;0 7.20 False ENSG00000127990 ENSG00000127990 HGNC:10808 SHQ1 gene SHQ1 Expert Review Green;Literature;NHS GMS Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal ?Dystonia 35, childhood-onset, OMIM:619921;dystonia 35, childhood-onset, MONDO:0030958;Neurodevelopmental disorder with dystonia and seizures, OMIM:619922;neurodevelopmental disorder with dystonia and seizures, MONDO:0859258 34542157;29178645;36810590;36847845;36416405;37475611;36189577 False 3 67;33;0 7.20 False ENSG00000144736 ENSG00000144736 HGNC:25543 SLC16A2 gene SLC16A2 Expert list;Expert Review Green Childhood onset dystonia, chorea or related movement disorder Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Allan-Herndon-Dudley syndrome, OMIM:300523 20713192;22805248;23419639;24170966;25160547;25755011;25900139;27212794;31410843 False 3 100;0;0 7.20 False ENSG00000147100 ENSG00000147100 HGNC:10923 SLC18A2 gene SLC18A2 Expert Review Green;London North GLH;NHS GMS;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal ?Parkinsonism-dystonia, infantile, 2, OMIM:618049 27830117;28477711;26497564;23363473;27520881;24398404;24018103;27604308;31240161;34078222 False 3 67;0;33 7.20 False ENSG00000165646 ENSG00000165646 HGNC:10935 SLC19A3 gene SLC19A3 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia;Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483 False 3 100;0;0 7.20 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC20A2 gene SLC20A2 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 1 213600;Dystonia False 3 100;0;0 7.20 False ENSG00000168575 ENSG00000168575 HGNC:10947 SLC2A1 gene SLC2A1 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal GLUT1 deficiency syndrome 1, 606777;GLUT1 deficiency syndrome 2, childhood onset;dystonia 9;EPILEPSY, IDIOPATHIC GENERALIZED;GLUT1 deficiency syndrome 1, infantile onset, severe;Dystonia;paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia;GLUT1 deficiency syndrome 2 19630075;20301334;18451999;18577546 False 3 100;0;0 7.20 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC30A10 gene SLC30A10 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 1, OMIM:613280 22934317;22341972;25778823;22341971;22926781 False 3 100;0;0 7.20 False ENSG00000196660 ENSG00000196660 HGNC:25355 SLC30A9 gene SLC30A9 Expert Review Green;Literature;NHS GMS Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Birk-Landau-Perez syndrome, OMIM:617595 28334855;34716203;37041080 False 3 100;0;0 7.20 False ENSG00000014824 ENSG00000014824 HGNC:1329 SLC39A14 gene SLC39A14 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 2 617013 27231142 False 3 100;0;0 7.20 False ENSG00000104635 ENSG00000104635 HGNC:20858 SLC6A3 gene SLC6A3 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dopamine transporter deficiency;Parkinsonism-dystonia, infantile, 613135 21112253;27830117;24613933 False 3 100;0;0 7.20 False ENSG00000142319 ENSG00000142319 HGNC:11049 SLC6A8 gene SLC6A8 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Cerebral creatine deficiency syndrome 1, 300352 False 3 100;0;0 7.20 False ENSG00000130821 ENSG00000130821 HGNC:11055 SNORD118 gene SNORD118 Expert list;Expert Review Green;NHS GMS Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, brain calcifications, and cyst, OMIM:614561 27571260;33029936 False 3 100;0;0 7.20 False ENSG00000200463 ENSG00000200463 HGNC:32952 SPATA5L1 gene SPATA5L1 Expert Review Green;Literature;NHS GMS Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616 34626583 False 3 100;0;0 7.20 False ENSG00000171763 ENSG00000171763 HGNC:28762 SPR gene SPR Expert Review Green;London North GLH;NHS GMS;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 15241655;18502672;27830117;20301334;11443547;22522443;27604308 False 3 100;0;0 7.20 False ENSG00000116096 ENSG00000116096 HGNC:11257 SQSTM1 gene SQSTM1 Expert list;Expert Review Green;NHS GMS Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145 27545679 False 3 100;0;0 7.20 False ENSG00000161011 ENSG00000161011 HGNC:11280 SUCLA2 gene SUCLA2 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 False 3 100;0;0 7.20 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUOX gene SUOX Expert Review Green;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Sulfite oxidase deficiency, 272300 False 3 50;0;50 7.20 False ENSG00000139531 ENSG00000139531 HGNC:11460 SURF1 gene SURF1 Expert Review Green;London North GLH;PanelApp Childhood 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 3 100;0;0 7.20 False ENSG00000148290 ENSG00000148290 HGNC:11474 SYNJ1 gene SYNJ1 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 20, early-onset, 615530;juvenile Parkinsonism 27496670;23804577;23804563 False 3 100;0;0 7.20 False ENSG00000159082 ENSG00000159082 HGNC:11503 SYT1 gene SYT1 Expert list;Expert Review Green;NHS GMS Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baker-Gordon syndrome MIM#618218 30107533 False 3 100;0;0 7.20 False ENSG00000067715 ENSG00000067715 HGNC:11509 TAF1 gene TAF1 Expert Review Green;London North GLH;South West GLH Childhood 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, 314250 False 3 50;50;0 7.20 False ENSG00000147133 ENSG00000147133 HGNC:11535 TARS2 gene TARS2 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 21, OMIM:615918 33153448;24827421;34508595 False 3 50;0;50 7.20 False ENSG00000143374 ENSG00000143374 HGNC:30740 TBC1D24 gene TBC1D24 Expert list;Expert Review Green;NHS GMS Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp, OMIM:608105;Developmental and epileptic encephalopathy 16, OMIM:615338 21087195;23343562;31257402 False 3 100;0;0 7.20 False ENSG00000162065 ENSG00000162065 HGNC:29203 TH gene TH Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal DOPA-responsive dystonia;Segawa syndrome, recessive, 605407;Tyrosine Hydroxylase Deficiency;Segawa syndrome;paediatric form of dopa responsive dystonia 27830117;20301334;8528210;21937992;9732974;9703425;8817341;17696123;7814018;11246459;10585338 False 3 100;0;0 7.20 False ENSG00000180176 ENSG00000180176 HGNC:11782 THAP1 gene THAP1 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 6, torsion, 602629;Dystonia 20301334 False 3 100;0;0 7.20 False ENSG00000131931 ENSG00000131931 HGNC:20856 TIMM8A gene TIMM8A Expert Review Green;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Mohr-Tranebjaerg syndrome, 304700 False 3 50;50;0 7.20 False ENSG00000126953 ENSG00000126953 HGNC:11817 TMEM151A gene TMEM151A Expert Review Green;NHS GMS Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic kinesigenic dyskinesia 3, OMIM:620245 34518509;34820915;35587630;35707035;35727387;36724570 False 3 100;0;0 7.20 False ENSG00000179292 ENSG00000179292 HGNC:28497 TNR gene TNR Expert list;Expert Review Green;NHS GMS Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, OMIM:619653 28334938;32099069 False 3 100;0;0 7.20 False ENSG00000116147 ENSG00000116147 HGNC:11953 TOR1A gene TOR1A Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dystonia-1, torsion, OMIM:128100;Arthrogryposis multiplex congenita 5, OMIM:618947 20301334;11523564;17503336;20301665;9288096;16537570;29053766;30244176 False 3 100;0;0 7.20 False ENSG00000136827 ENSG00000136827 HGNC:3098 TPK1 gene TPK1 Expert Review Green;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 28431625 False 3 0;50;50 7.20 False ENSG00000196511 ENSG00000196511 HGNC:17358 TREX1 gene TREX1 Expert Review Green;London North GLH;South West 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 Vasculopathy, retinal, with cerebral leukodystrophy, 192315;Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 False 3 50;50;0 7.20 False ENSG00000213689 ENSG00000213689 HGNC:12269 TSPOAP1 gene TSPOAP1 Expert Review Green;Literature;NHS GMS Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia, intellectual disability and cerebellar atrophy 33539324 False 3 100;0;0 7.20 False ENSG00000005379 ENSG00000005379 HGNC:16831 TUBB4A gene TUBB4A Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown hereditary whispering dysphonia;?Dystonia 4, torsion, autosomal dominant, 128101;Dystonia;Leukodystrophy, hypomyelinating, 6 612438 27809427;24850488;23582646;24526230 False 3 100;0;0 7.20 False ENSG00000104833 ENSG00000104833 HGNC:20774 UBTF gene UBTF Expert list;Expert Review Green Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672 28777933;29300972;30517966;31931739;33026538 False 3 100;0;0 7.20 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000108312 ENSG00000108312 HGNC:12511 VAC14 gene VAC14 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Striatonigral degeneration, childhood-onset 617054 17956977;27292112;19037259 False 3 100;0;0 7.20 False ENSG00000103043 ENSG00000103043 HGNC:25507 VAMP1 gene VAMP1 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic ataxia 1, autosomal dominant, 108600 False 3 100;0;0 7.20 False ENSG00000139190 ENSG00000139190 HGNC:12642 VAMP2 gene VAMP2 Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown axial hypotonia intellectual disability autistic features central visual impairment hyperkinetic movement disorder epilepsy or electroencephalography abnormalities 30929742 False 3 100;0;0 7.20 False ENSG00000220205 ENSG00000220205 HGNC:12643 VPS13A gene VPS13A Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Choreoacanthocytosis 200150;complex parkinsonism 14663054;11381253;11381254 False 3 100;0;0 7.20 False ENSG00000197969 ENSG00000197969 HGNC:1908 VPS13D gene VPS13D Expert Review Green;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317 False 3 100;0;0 7.20 False ENSG00000048707 ENSG00000048707 HGNC:23595 VPS16 gene VPS16 Expert Review Green;Literature Childhood 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 7.20 False ENSG00000215305 ENSG00000215305 HGNC:14584 VPS41 gene VPS41 Expert Review Green;Literature Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia;Intellectual disability 32808683;33764426;33851776 False 3 100;0;0 7.20 False ENSG00000006715 ENSG00000006715 HGNC:12713 VPS4A gene VPS4A Expert Review;Expert Review Green Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CIMDAG syndrome 33186545;33186543;33460484 False 3 100;0;0 7.20 False ENSG00000132612 ENSG00000132612 HGNC:13488 WDR45 gene WDR45 Expert Review Green;London North GLH;PanelApp Childhood 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 300894;beta-propeller protein-associated neurodegeneration;Dystonia 22892189;23435086;23176820 False 3 100;0;0 7.20 False ENSG00000196998 ENSG00000196998 HGNC:28912 WDR73 gene WDR73 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 1, 251300 False 3 100;0;0 7.20 False ENSG00000177082 ENSG00000177082 HGNC:25928 YIF1B gene YIF1B Expert list;Expert Review Green Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Kaya-Barakat-Masson syndrome, OMIM:619125 32006098 False 3 100;0;0 7.20 False ENSG00000167645 ENSG00000167645 HGNC:30511 YY1 gene YY1 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gabriele-de Vries syndrome 617557 28575647 False 3 100;0;0 7.20 False ENSG00000100811 ENSG00000100811 HGNC:12856 ZSWIM6 gene ZSWIM6 Expert Review Green;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 25105228 False 3 100;0;0 7.20 False Other - please provide details in the comments ENSG00000130449 ENSG00000130449 HGNC:29316 ATXN2_CAG str ATXN2 NHS GMS;Expert Review Green;Expert list Childhood 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 False 3 100;0;0 7.20 False ENSG00000204842 ENSG00000204842 HGNC:10555 12 112036755 112036823 111598951 111599019 CAG 32 35 CSTB_CCCCGCCCCGCG str CSTB NHS GMS;Expert Review Green;Expert list Childhood 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 7.20 False ENSG00000160213 ENSG00000160213 HGNC:2482 21 45196328 45196351 43776429 43776470 CCCCGCCCCGCG 18 30 FXN_GAA str FXN Expert Review Green;NHS GMS;Expert list Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia OMIM:229300;Friedreich ataxia with retained reflexes OMIM:229300;Friedreich ataxia 1 MONDO:0100340 10399865;8596916;33670433 False 3 100;0;0 7.20 False ENSG00000165060 ENSG00000165060 HGNC:3951 9 71652203 71652220 69037287 69037304 GAA 44 66 TBP_CAG str TBP NHS GMS;Expert Review Green;Expert list Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 17, OMIM:607136 False 3 100;0;0 7.20 False ENSG00000112592 ENSG00000112592 HGNC:11588 6 170870996 170871109 170561908 170562021 CAG 41 49