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 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 AARS2 gene AARS2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000124608 ENSG00000124608 HGNC:21022 ABCA1 gene ABCA1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000165029 ENSG00000165029 HGNC:29 ABCB11 gene ABCB11 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000073734 ENSG00000073734 HGNC:42 ABCB4 gene ABCB4 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000005471 ENSG00000005471 HGNC:45 ABCD1 gene ABCD1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000101986 ENSG00000101986 HGNC:61 ABCD4 gene ABCD4 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000119688 ENSG00000119688 HGNC:68 ABCG5 gene ABCG5 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000138075 ENSG00000138075 HGNC:13886 ABCG8 gene ABCG8 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000143921 ENSG00000143921 HGNC:13887 ABHD12 gene ABHD12 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000100997 ENSG00000100997 HGNC:15868 ABHD5 gene ABHD5 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000011198 ENSG00000011198 HGNC:21396 ACAD8 gene ACAD8 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000151498 ENSG00000151498 HGNC:87 ACAD9 gene ACAD9 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000177646 ENSG00000177646 HGNC:21497 ACADM gene ACADM Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000117054 ENSG00000117054 HGNC:89 ACADS gene ACADS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000122971 ENSG00000122971 HGNC:90 ACADSB gene ACADSB Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000196177 ENSG00000196177 HGNC:91 ACADVL gene ACADVL Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000072778 ENSG00000072778 HGNC:92 ACAT1 gene ACAT1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000075239 ENSG00000075239 HGNC:93 ACO2 gene ACO2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000100412 ENSG00000100412 HGNC:118 ACY1 gene ACY1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000243989 ENSG00000243989 HGNC:177 ADA gene ADA Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000196839 ENSG00000196839 HGNC:186 ADGRG1 gene ADGRG1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000205336 ENSG00000205336 HGNC:4512 ADSL gene ADSL Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000239900 ENSG00000239900 HGNC:291 AGA gene AGA Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000038002 ENSG00000038002 HGNC:318 AGK gene AGK Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000006530 ENSG00000006530 HGNC:21869 AGL gene AGL Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000162688 ENSG00000162688 HGNC:321 AGPS gene AGPS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000018510 ENSG00000018510 HGNC:327 AGXT gene AGXT Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000172482 ENSG00000172482 HGNC:341 AHI1 gene AHI1 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 3;Joubert syndrome;Joubert syndrome-3. False 1 0;0;100 7.20 False ENSG00000135541 ENSG00000135541 HGNC:21575 AIFM1 gene AIFM1 Expert Review Red;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 Combined oxidative phosphorylation deficiency 6 300816 False 1 0;0;100 7.20 False ENSG00000156709 ENSG00000156709 HGNC:8768 AKR1D1 gene AKR1D1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000122787 ENSG00000122787 HGNC:388 ALAD gene ALAD Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000148218 ENSG00000148218 HGNC:395 ALAS2 gene ALAS2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000158578 ENSG00000158578 HGNC:397 ALDH3A2 gene ALDH3A2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000072210 ENSG00000072210 HGNC:403 ALDH4A1 gene ALDH4A1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000159423 ENSG00000159423 HGNC:406 ALDH5A1 gene ALDH5A1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000112294 ENSG00000112294 HGNC:408 ALDH6A1 gene ALDH6A1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000119711 ENSG00000119711 HGNC:7179 ALDH7A1 gene ALDH7A1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000164904 ENSG00000164904 HGNC:877 ALDOA gene ALDOA Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000149925 ENSG00000149925 HGNC:414 ALDOB gene ALDOB Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000136872 ENSG00000136872 HGNC:417 ALG1 gene ALG1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000033011 ENSG00000033011 HGNC:18294 ALG11 gene ALG11 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000253710 ENSG00000253710 HGNC:32456 ALG12 gene ALG12 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000182858 ENSG00000182858 HGNC:19358 ALG13 gene ALG13 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000101901 ENSG00000101901 HGNC:30881 ALG3 gene ALG3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000214160 ENSG00000214160 HGNC:23056 ALG6 gene ALG6 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000088035 ENSG00000088035 HGNC:23157 ALG8 gene ALG8 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000086848 ENSG00000086848 HGNC:15672 ALMS1 gene ALMS1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000116127 ENSG00000116127 HGNC:428 ALPL gene ALPL Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000162551 ENSG00000162551 HGNC:438 AMACR gene AMACR Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000242110 ENSG00000242110 HGNC:451 AMN gene AMN Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000166126 ENSG00000166126 HGNC:14604 AMPD2 gene AMPD2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000116337 ENSG00000116337 HGNC:469 AMT gene AMT Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000145020 ENSG00000145020 HGNC:473 ANKS6 gene ANKS6 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000165138 ENSG00000165138 HGNC:26724 APOA1 gene APOA1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000118137 ENSG00000118137 HGNC:600 APOA5 gene APOA5 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000110243 ENSG00000110243 HGNC:17288 APOB gene APOB Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000084674 ENSG00000084674 HGNC:603 APOC2 gene APOC2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000234906 ENSG00000234906 HGNC:609 APOE gene APOE Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000130203 ENSG00000130203 HGNC:613 APOPT1 gene APOPT1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000256053 ENSG00000256053 HGNC:20492 APRT gene APRT Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000198931 ENSG00000198931 HGNC:626 ARG1 gene ARG1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000118520 ENSG00000118520 HGNC:663 ARL13B gene ARL13B Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8 25138100;18674751 False 1 0;0;100 7.20 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARL6 gene ARL6 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000113966 ENSG00000113966 HGNC:13210 ARSB gene ARSB Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000113273 ENSG00000113273 HGNC:714 ARSE gene ARSE Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000157399 ENSG00000157399 HGNC:719 ASAH1 gene ASAH1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000104763 ENSG00000104763 HGNC:735 ASPA gene ASPA Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000108381 ENSG00000108381 HGNC:756 ASS1 gene ASS1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000130707 ENSG00000130707 HGNC:758 ATAD3A gene ATAD3A Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000197785 ENSG00000197785 HGNC:25567 ATIC gene ATIC Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000138363 ENSG00000138363 HGNC:794 ATN1 gene ATN1 South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology Other Dentatorubral-pallidoluysian atrophy, OMIM:125370 False 1 0;0;100 7.20 False ENSG00000111676 ENSG00000111676 HGNC:3033 ATP6AP1 gene ATP6AP1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000071553 ENSG00000071553 HGNC:868 ATP6V0A2 gene ATP6V0A2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATP7A gene ATP7A Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000165240 ENSG00000165240 HGNC:869 ATP8A2 gene ATP8A2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000132932 ENSG00000132932 HGNC:13533 ATP8B1 gene ATP8B1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000081923 ENSG00000081923 HGNC:3706 ATPAF2 gene ATPAF2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000171953 ENSG00000171953 HGNC:18802 ATXN1 gene ATXN1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology Other Spinocerebellar ataxia 1, OMIM:164400 False 1 0;50;50 7.20 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000124788 ENSG00000124788 HGNC:10548 ATXN10 gene ATXN10 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology Other Spinocerebellar ataxia 10, OMIM:603516 False 1 0;100;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 ENSG00000130638 ENSG00000130638 HGNC:10549 ATXN7 gene ATXN7 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology Other Spinocerebellar ataxia 7, OMIM:164500 False 1 0;50;50 7.20 False ENSG00000163635 ENSG00000163635 HGNC:10560 B3GALNT2 gene B3GALNT2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000162885 ENSG00000162885 HGNC:28596 B3GALT6 gene B3GALT6 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000176022 ENSG00000176022 HGNC:17978 B3GAT3 gene B3GAT3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000149541 ENSG00000149541 HGNC:923 B3GLCT gene B3GLCT Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000187676 ENSG00000187676 HGNC:20207 B4GALT1 gene B4GALT1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000086062 ENSG00000086062 HGNC:924 B4GALT7 gene B4GALT7 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000027847 ENSG00000027847 HGNC:930 B4GAT1 gene B4GAT1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000174684 ENSG00000174684 HGNC:15685 B9D2 gene B9D2 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 34, OMIM:614175;Meckel syndrome 10, OMIM:614175;Meckel syndrome, type 10, MONDO:0013609 26092869;21763481;31411728 False 1 0;0;100 7.20 False ENSG00000123810 ENSG00000123810 HGNC:28636 BAAT gene BAAT Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000136881 ENSG00000136881 HGNC:932 BBS1 gene BBS1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000122507 ENSG00000122507 HGNC:30000 BCKDHA gene BCKDHA Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000083123 ENSG00000083123 HGNC:987 BCKDK gene BCKDK Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000103507 ENSG00000103507 HGNC:16902 BDNF gene BDNF South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Central hypoventilation syndrome, congenital, 209880 False 1 0;0;100 7.20 False ENSG00000176697 ENSG00000176697 HGNC:1033 BOLA3 gene BOLA3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000163170 ENSG00000163170 HGNC:24415 BTD gene BTD Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000169814 ENSG00000169814 HGNC:1122 C12orf65 gene C12orf65 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 7.20 False ENSG00000130921 ENSG00000130921 HGNC:26784 C1QBP gene C1QBP Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000108561 ENSG00000108561 HGNC:1243 C21orf2 gene C21orf2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000160226 ENSG00000160226 HGNC:1260 C2CD3 gene C2CD3 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal MIM208500);MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD;short-rib polydactyly syndromes (SRPS;?Orofaciodigital syndrome XIV, 615948;Orofaciodigital syndromes (OFDS, MIM 311200) 26044959;27094867;24997988 False 1 0;0;100 7.20 False ENSG00000168014 ENSG00000168014 HGNC:24564 C5orf42 gene C5orf42 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 17;Oral-facial-digital syndrome type VI;Joubert syndrome 22425360;22693042;25920555 False 1 0;0;100 7.20 False ENSG00000197603 ENSG00000197603 HGNC:25801 C9orf72 gene C9orf72 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 26166205;24363131;26187722 False 1 25;0;75 7.20 False ENSG00000147894 ENSG00000147894 HGNC:28337 CA5A gene CA5A Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000174990 ENSG00000174990 HGNC:1377 CACNB4 gene CACNB4 Expert Review Red;London North GLH;NHS GMS;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Episodic ataxia, type 5, OMIM:613855;episodic ataxia type 5, MONDO:0013464;{Epilepsy, idiopathic generalized, susceptibility to, 9}, OMIM:607682;{Epilepsy, juvenile myoclonic, susceptibility to, 6}, OMIM:607682;epilepsy, idiopathic generalized, susceptibility to, 9, MONDO:0011892;neurodevelopmental disorder, MONDO:0700092 10762541;9628818;27003325;32176688 False 1 50;0;50 7.20 False ENSG00000182389 ENSG00000182389 HGNC:1404 CAMTA1 gene CAMTA1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000171735 ENSG00000171735 HGNC:18806 CASK gene CASK Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000147044 ENSG00000147044 HGNC:1497 CAT gene CAT Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000121691 ENSG00000121691 HGNC:1516 CBS gene CBS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000160200 ENSG00000160200 HGNC:1550 CC2D2A gene CC2D2A Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal COACH syndrome;Joubert syndrome with oculorenal defect;Meckel syndrome 6;Meckel syndrome;Joubert syndrome 9 False 1 0;0;100 7.20 False ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC115 gene CCDC115 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000136710 ENSG00000136710 HGNC:28178 CENPF gene CENPF Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, OMIM:243605;Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome 26820108 False 1 0;0;100 7.20 False ENSG00000117724 ENSG00000117724 HGNC:1857 CEP104 gene CEP104 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 25;Joubert syndrome 25, 616781 26477546 False 1 0;0;100 7.20 False ENSG00000116198 ENSG00000116198 HGNC:24866 CEP120 gene CEP120 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000168944 ENSG00000168944 HGNC:26690 CEP164 gene CEP164 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000110274 ENSG00000110274 HGNC:29182 CEP290 gene CEP290 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal 611755;610189;Senior-Loken syndrome;611134;610188;Joubert syndrome 5;Senior-Loken syndrome 6;Meckel syndrome;Meckel syndrome 4;Joubert syndrome with oculorenal defect 18327255;20690115 False 1 0;0;100 7.20 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 15 22246503 False 1 0;0;100 7.20 False ENSG00000106477 ENSG00000106477 HGNC:12370 CEP83 gene CEP83 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000173588 ENSG00000173588 HGNC:17966 CFAP43 gene CFAP43 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000197748 ENSG00000197748 HGNC:26684 CHCHD10 gene CHCHD10 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000250479 ENSG00000250479 HGNC:15559 CHKB gene CHKB Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000100288 ENSG00000100288 HGNC:1938 CHMP1A gene CHMP1A Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000131165 ENSG00000131165 HGNC:8740 CHMP2B gene CHMP2B Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown familial frontotemporal lobar degeneration (ALS17);Dystonia;Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 False 1 0;0;100 7.20 False ENSG00000083937 ENSG00000083937 HGNC:24537 CHST14 gene CHST14 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000169105 ENSG00000169105 HGNC:24464 CHST3 gene CHST3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000122863 ENSG00000122863 HGNC:1971 CHST6 gene CHST6 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000183196 ENSG00000183196 HGNC:6938 CHSY1 gene CHSY1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000131873 ENSG00000131873 HGNC:17198 CISD2 gene CISD2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000145354 ENSG00000145354 HGNC:24212 CLCN2 gene CLCN2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000114859 ENSG00000114859 HGNC:2020 CLDN16 gene CLDN16 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000113946 ENSG00000113946 HGNC:2037 CLDN19 gene CLDN19 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000164007 ENSG00000164007 HGNC:2040 CLN6 gene CLN6 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000128973 ENSG00000128973 HGNC:2077 CLPP gene CLPP Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000125656 ENSG00000125656 HGNC:2084 CNNM2 gene CNNM2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000148842 ENSG00000148842 HGNC:103 COA3 gene COA3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000183978 ENSG00000183978 HGNC:24990 COA6 gene COA6 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000168275 ENSG00000168275 HGNC:18025 COG1 gene COG1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000166685 ENSG00000166685 HGNC:6545 COG4 gene COG4 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000103051 ENSG00000103051 HGNC:18620 COG5 gene COG5 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000164597 ENSG00000164597 HGNC:14857 COG6 gene COG6 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000133103 ENSG00000133103 HGNC:18621 COG7 gene COG7 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000168434 ENSG00000168434 HGNC:18622 COG8 gene COG8 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000213380 ENSG00000213380 HGNC:18623 COQ2 gene COQ2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ4 gene COQ4 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ6 gene COQ6 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000119723 ENSG00000119723 HGNC:20233 COQ8A gene COQ8A Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000163050 ENSG00000163050 HGNC:16812 COQ8B gene COQ8B Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000123815 ENSG00000123815 HGNC:19041 COQ9 gene COQ9 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000088682 ENSG00000088682 HGNC:25302 COX14 gene COX14 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000178449 ENSG00000178449 HGNC:28216 COX6A1 gene COX6A1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000111775 ENSG00000111775 HGNC:2277 COX6B1 gene COX6B1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000126267 ENSG00000126267 HGNC:2280 COX7B gene COX7B Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000131174 ENSG00000131174 HGNC:2291 CP gene CP Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia 604290;Dystonia;[Hypoceruloplasminemia, hereditary] 604290;Aceruloplasminemia;Hemosiderosis, systemic, due to aceruloplasminemia 604290 False 1 0;0;100 7.20 False ENSG00000047457 ENSG00000047457 HGNC:2295 CPOX gene CPOX Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000080819 ENSG00000080819 HGNC:2321 CPS1 gene CPS1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000021826 ENSG00000021826 HGNC:2323 CPT1A gene CPT1A Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000110090 ENSG00000110090 HGNC:2328 CPT2 gene CPT2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000157184 ENSG00000157184 HGNC:2330 CRB2 gene CRB2 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ventriculomegaly with cystic kidney disease 219730 25557780 False 1 0;0;100 7.20 False ENSG00000148204 ENSG00000148204 HGNC:18688 CSPP1 gene CSPP1 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Meckel syndrome;Joubert syndrome;Meckel-Gruber syndrome;Joubert syndrome 21 24360803;24360808;24360807 False 1 0;0;100 7.20 False ENSG00000104218 ENSG00000104218 HGNC:26193 CTH gene CTH Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000116761 ENSG00000116761 HGNC:2501 CTNS gene CTNS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000040531 ENSG00000040531 HGNC:2518 CTSA gene CTSA Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000064601 ENSG00000064601 HGNC:9251 CTSC gene CTSC Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000109861 ENSG00000109861 HGNC:2528 CTSK gene CTSK Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000143387 ENSG00000143387 HGNC:2536 CUBN gene CUBN Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000107611 ENSG00000107611 HGNC:2548 CYC1 gene CYC1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000179091 ENSG00000179091 HGNC:2579 CYCS gene CYCS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000172115 ENSG00000172115 HGNC:19986 CYP2U1 gene CYP2U1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000155016 ENSG00000155016 HGNC:20582 CYP7B1 gene CYP7B1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000172817 ENSG00000172817 HGNC:2652 D2HGDH gene D2HGDH Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000180902 ENSG00000180902 HGNC:28358 DAG1 gene DAG1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000173402 ENSG00000173402 HGNC:2666 DARS gene DARS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000115866 ENSG00000115866 HGNC:2678 DARS2 gene DARS2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000117593 ENSG00000117593 HGNC:25538 DBH gene DBH Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dopamine beta-hydroxylase deficiency, 223360 27778639;27830117;27604308 False 1 0;0;100 7.20 False ENSG00000123454 ENSG00000123454 HGNC:2689 DBT gene DBT Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000137992 ENSG00000137992 HGNC:2698 DCAF10 gene DCAF10 PanelApp;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 7.20 False ENSG00000122741 ENSG00000122741 HGNC:23686 DCDC2 gene DCDC2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000146038 ENSG00000146038 HGNC:18141 DCTN1 gene DCTN1 PanelApp;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, distal hereditary motor, type VIIB False 1 0;0;100 7.20 False ENSG00000204843 ENSG00000204843 HGNC:2711 DCXR gene DCXR Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000169738 ENSG00000169738 HGNC:18985 DDHD2 gene DDHD2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000085788 ENSG00000085788 HGNC:29106 DDX59 gene DDX59 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V, 174300 29127725;28711741;23972372 False 1 0;0;100 7.20 False ENSG00000118197 ENSG00000118197 HGNC:25360 DGUOK gene DGUOK Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000114956 ENSG00000114956 HGNC:2858 DHCR24 gene DHCR24 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000116133 ENSG00000116133 HGNC:2859 DHCR7 gene DHCR7 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome 270400 9634533 False 1 0;0;100 7.20 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHFR gene DHFR Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839;Dihydrofolate reductase deficiency 21310277;27830117;21310276;27604308 False 1 0;0;100 7.20 False ENSG00000228716 ENSG00000228716 HGNC:2861 DHODH gene DHODH Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000102967 ENSG00000102967 HGNC:2867 DHTKD1 gene DHTKD1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000181192 ENSG00000181192 HGNC:23537 DKC1 gene DKC1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000130826 ENSG00000130826 HGNC:2890 DMPK gene DMPK Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology Other Myotonic dystrophy 1, OMIM:160900 False 1 0;50;50 7.20 False ENSG00000104936 ENSG00000104936 HGNC:2933 DMXL2 gene DMXL2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000104093 ENSG00000104093 HGNC:2938 DNA2 gene DNA2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000138346 ENSG00000138346 HGNC:2939 DNAH1 gene DNAH1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000114841 ENSG00000114841 HGNC:2940 DNAJC19 gene DNAJC19 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000205981 ENSG00000205981 HGNC:30528 DNM1L gene DNM1L Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000087470 ENSG00000087470 HGNC:2973 DNMT1 gene DNMT1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000130816 ENSG00000130816 HGNC:2976 DOLK gene DOLK Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000175283 ENSG00000175283 HGNC:23406 DPAGT1 gene DPAGT1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000172269 ENSG00000172269 HGNC:2995 DPM1 gene DPM1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPM2 gene DPM2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000136908 ENSG00000136908 HGNC:3006 DPM3 gene DPM3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000179085 ENSG00000179085 HGNC:3007 DPYD gene DPYD Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000188641 ENSG00000188641 HGNC:3012 DPYS gene DPYS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000147647 ENSG00000147647 HGNC:3013 DRD2 gene DRD2 South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology Unknown Dystonia, myoclonic, 159900 False 1 0;0;100 7.20 False ENSG00000149295 ENSG00000149295 HGNC:3023 DRD5 gene DRD5 South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology Unknown {Blepharospasm, primary benign}, 606798 False 1 0;0;100 7.20 False ENSG00000169676 ENSG00000169676 HGNC:3026 DYM gene DYM Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000141627 ENSG00000141627 HGNC:21317 DYNC2H1 gene DYNC2H1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000187240 ENSG00000187240 HGNC:2962 DYNC2LI1 gene DYNC2LI1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000138036 ENSG00000138036 HGNC:24595 EARS2 gene EARS2 Expert Review Red;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 12, 614924 False 1 0;0;100 7.20 False ENSG00000103356 ENSG00000103356 HGNC:29419 EBP gene EBP Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000147155 ENSG00000147155 HGNC:3133 EIF2B1 gene EIF2B1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000145191 ENSG00000145191 HGNC:3261 ELAC2 gene ELAC2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000006744 ENSG00000006744 HGNC:14198 ENO3 gene ENO3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000108515 ENSG00000108515 HGNC:3354 EPG5 gene EPG5 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000152223 ENSG00000152223 HGNC:29331 EPM2A gene EPM2A Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology Myoclonic epilepsy of Lafora 1, OMIM:254780 False 1 0;0;100 7.20 False ENSG00000112425 ENSG00000112425 HGNC:3413 ERCC6 gene ERCC6 South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology Unknown Dystonia False 1 0;0;100 7.20 False ENSG00000225830 ENSG00000225830 HGNC:3438 ETFA gene ETFA Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000171503 ENSG00000171503 HGNC:3483 ETHE1 gene ETHE1 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ethylmalonic encephalopathy 602473 False 1 0;0;100 7.20 False ENSG00000105755 ENSG00000105755 HGNC:23287 EVC gene EVC Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, 225500;Weyers acrodental dysostosis, 193530 False 1 0;0;100 7.20 False ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, 225500;Weyers acrofacial dysostosis, 193530 False 1 0;0;100 7.20 False ENSG00000173040 ENSG00000173040 HGNC:19747 EXOSC3 gene EXOSC3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology Pontocerebellar hypoplasia, type 1B, OMIM:614678 False 1 0;0;100 7.20 False ENSG00000107371 ENSG00000107371 HGNC:17944 EXT1 gene EXT1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000151348 ENSG00000151348 HGNC:3513 FAH gene FAH Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000103876 ENSG00000103876 HGNC:3579 FAR1 gene FAR1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000197601 ENSG00000197601 HGNC:26222 FARS2 gene FARS2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000145982 ENSG00000145982 HGNC:21062 FASTKD2 gene FASTKD2 Expert Review Red;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 44, OMIM:618855;Dystonia False 1 0;0;100 7.20 False ENSG00000118246 ENSG00000118246 HGNC:29160 FBP1 gene FBP1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000165140 ENSG00000165140 HGNC:3606 FBXL4 gene FBXL4 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000112234 ENSG00000112234 HGNC:13601 FDXR gene FDXR Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000161513 ENSG00000161513 HGNC:3642 FECH gene FECH Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000066926 ENSG00000066926 HGNC:3647 FGFR2 gene FGFR2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000066468 ENSG00000066468 HGNC:3689 FH gene FH Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000091483 ENSG00000091483 HGNC:3700 FKRP gene FKRP Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000106692 ENSG00000106692 HGNC:3622 FLAD1 gene FLAD1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000160688 ENSG00000160688 HGNC:24671 FLVCR1 gene FLVCR1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000162769 ENSG00000162769 HGNC:24682 FMO3 gene FMO3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000007933 ENSG00000007933 HGNC:3771 FOXP2 gene FOXP2 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Speech-language disorder-1 602081 15877281;22434823;11586359 False 1 0;0;100 7.20 False ENSG00000128573 ENSG00000128573 HGNC:13875 FTCD gene FTCD Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000160282 ENSG00000160282 HGNC:3974 FUT8 gene FUT8 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000033170 ENSG00000033170 HGNC:4019 G6PC gene G6PC Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000131482 ENSG00000131482 HGNC:4056 G6PC3 gene G6PC3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000141349 ENSG00000141349 HGNC:24861 GAA gene GAA Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000171298 ENSG00000171298 HGNC:4065 GABRG2 gene GABRG2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000113327 ENSG00000113327 HGNC:4087 GALC gene GALC Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000054983 ENSG00000054983 HGNC:4115 GALE gene GALE Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000117308 ENSG00000117308 HGNC:4116 GALK1 gene GALK1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000108479 ENSG00000108479 HGNC:4118 GALNS gene GALNS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000141012 ENSG00000141012 HGNC:4122 GALNT3 gene GALNT3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000115339 ENSG00000115339 HGNC:4125 GALT gene GALT Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000213930 ENSG00000213930 HGNC:4135 GAMT gene GAMT Expert Review Red;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 2, 612736 False 1 0;0;100 7.20 False ENSG00000130005 ENSG00000130005 HGNC:4136 GARS gene GARS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000106105 ENSG00000106105 HGNC:4162 GATM gene GATM Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000171766 ENSG00000171766 HGNC:4175 GBA2 gene GBA2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000070610 ENSG00000070610 HGNC:18986 GBE1 gene GBE1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000114480 ENSG00000114480 HGNC:4180 GCLC gene GCLC Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000001084 ENSG00000001084 HGNC:4311 GDAP1 gene GDAP1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000104381 ENSG00000104381 HGNC:15968 GFAP gene GFAP Expert Review Red;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alexander disease, 203450 False 1 0;0;100 7.20 False ENSG00000131095 ENSG00000131095 HGNC:4235 GFER gene GFER Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000127554 ENSG00000127554 HGNC:4236 GFM1 gene GFM1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000168827 ENSG00000168827 HGNC:13780 GFPT1 gene GFPT1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000198380 ENSG00000198380 HGNC:4241 GIF gene GIF Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000134812 ENSG00000134812 HGNC:4268 GK gene GK Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000198814 ENSG00000198814 HGNC:4289 GLA gene GLA Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLDC gene GLDC Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000178445 ENSG00000178445 HGNC:4313 GLI3 gene GLI3 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Greig cephalopolysyndactyly syndrome, OMIM:175700;Pallister-Hall syndrome, OMIM:146510 False 1 0;0;100 7.20 False ENSG00000106571 ENSG00000106571 HGNC:4319 GLIS2 gene GLIS2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000126603 ENSG00000126603 HGNC:29450 GLRX5 gene GLRX5 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000182512 ENSG00000182512 HGNC:20134 GLUD1 gene GLUD1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000148672 ENSG00000148672 HGNC:4335 GLUL gene GLUL Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000135821 ENSG00000135821 HGNC:4341 GLYCTK gene GLYCTK Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000168237 ENSG00000168237 HGNC:24247 GMPPB gene GMPPB Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000173540 ENSG00000173540 HGNC:22932 GNE gene GNE Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000159921 ENSG00000159921 HGNC:23657 GNMT gene GNMT Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000124713 ENSG00000124713 HGNC:4415 GNPAT gene GNPAT Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000116906 ENSG00000116906 HGNC:4416 GNPTAB gene GNPTAB Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000111670 ENSG00000111670 HGNC:29670 GNPTG gene GNPTG Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000090581 ENSG00000090581 HGNC:23026 GNS gene GNS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000135677 ENSG00000135677 HGNC:4422 GOSR2 gene GOSR2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000108433 ENSG00000108433 HGNC:4431 GPAA1 gene GPAA1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000197858 ENSG00000197858 HGNC:4446 GPD1 gene GPD1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000167588 ENSG00000167588 HGNC:4455 GPHN gene GPHN Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000171723 ENSG00000171723 HGNC:15465 GRHPR gene GRHPR Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000137106 ENSG00000137106 HGNC:4570 GSS gene GSS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000100983 ENSG00000100983 HGNC:4624 GTPBP3 gene GTPBP3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000130299 ENSG00000130299 HGNC:14880 GUSB gene GUSB Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000169919 ENSG00000169919 HGNC:4696 GYG1 gene GYG1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000163754 ENSG00000163754 HGNC:4699 GYS1 gene GYS1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000104812 ENSG00000104812 HGNC:4706 GYS2 gene GYS2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000111713 ENSG00000111713 HGNC:4707 HAAO gene HAAO Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000162882 ENSG00000162882 HGNC:4796 HADH gene HADH Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000138796 ENSG00000138796 HGNC:4799 HADHA gene HADHA Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000138029 ENSG00000138029 HGNC:4803 HAMP gene HAMP Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000105697 ENSG00000105697 HGNC:15598 HCCS gene HCCS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000004961 ENSG00000004961 HGNC:4837 HEXB gene HEXB Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000049860 ENSG00000049860 HGNC:4879 HFE gene HFE Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000010704 ENSG00000010704 HGNC:4886 HFE2 gene HFE2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000168509 ENSG00000168509 HGNC:4887 HGD gene HGD Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000113924 ENSG00000113924 HGNC:4892 HGSNAT gene HGSNAT Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000165102 ENSG00000165102 HGNC:26527 HLCS gene HLCS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000159267 ENSG00000159267 HGNC:4976 HMBS gene HMBS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal 14262853;1577472;15534187;14970743;31153822;15534187 False 1 0;0;100 7.20 False ENSG00000256269 ENSG00000256269 HGNC:4982 HMGCL gene HMGCL Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCS2 gene HMGCS2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000134240 ENSG00000134240 HGNC:5008 HNF1B gene HNF1B Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000108753 ENSG00000275410 HGNC:11630 HOGA1 gene HOGA1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000241935 ENSG00000241935 HGNC:25155 HPD gene HPD Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000158104 ENSG00000158104 HGNC:5147 HPS1 gene HPS1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000107521 ENSG00000107521 HGNC:5163 HSD17B4 gene HSD17B4 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000133835 ENSG00000133835 HGNC:5213 HSD3B7 gene HSD3B7 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000099377 ENSG00000099377 HGNC:18324 HYAL1 gene HYAL1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000114378 ENSG00000114378 HGNC:5320 HYLS1 gene HYLS1 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Hydrolethalus syndrome, 236680 18648327 - Hydrolethalus syndrome;19656802 - impairment in ciligenesis;15843405 - Hydrolethalus syndrome;26830932 - report in two siblings with Joubert syndrome False 1 0;0;100 7.20 False ENSG00000198331 ENSG00000198331 HGNC:26558 IARS2 gene IARS2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000067704 ENSG00000067704 HGNC:29685 IBA57 gene IBA57 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000181873 ENSG00000181873 HGNC:27302 ICK gene ICK Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia, OMIM:612651;Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 27466187;19185282;27069622 False 1 0;0;100 7.20 False ENSG00000112144 ENSG00000112144 HGNC:21219 IDH2 gene IDH2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000182054 ENSG00000182054 HGNC:5383 IDS gene IDS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000127415 ENSG00000127415 HGNC:5391 IER3IP1 gene IER3IP1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000134049 ENSG00000134049 HGNC:18550 IFT122 gene IFT122 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000163913 ENSG00000163913 HGNC:13556 IFT140 gene IFT140 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT27 gene IFT27 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000100360 ENSG00000100360 HGNC:18626 IFT43 gene IFT43 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000119650 ENSG00000119650 HGNC:29669 IFT52 gene IFT52 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 7.20 False ENSG00000101052 ENSG00000101052 HGNC:15901 IFT80 gene IFT80 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000068885 ENSG00000068885 HGNC:29262 INPP5E gene INPP5E Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome 1 26748598;23386033 False 1 0;0;100 7.20 False ENSG00000148384 ENSG00000148384 HGNC:21474 INVS gene INVS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000119509 ENSG00000119509 HGNC:17870 IQCB1 gene IQCB1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000173226 ENSG00000173226 HGNC:28949 ISCU gene ISCU Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000136003 ENSG00000136003 HGNC:29882 ISG15 gene ISG15 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 38 616126 22859821;25307056 False 1 0;0;100 7.20 False ENSG00000187608 ENSG00000187608 HGNC:4053 ISPD gene ISPD Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000214960 ENSG00000214960 HGNC:37276 ITPA gene ITPA Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000125877 ENSG00000125877 HGNC:6176 IVD gene IVD Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Isovaleric acidemia 243500 False 1 0;0;100 7.20 False ENSG00000128928 ENSG00000128928 HGNC:6186 KARS gene KARS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000065427 ENSG00000065427 HGNC:6215 KCNJ10 gene KCNJ10 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000177807 ENSG00000177807 HGNC:6256 KCNK18 gene KCNK18 Expert Review Red;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology Unknown MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 False 1 0;0;100 7.20 False ENSG00000186795 ENSG00000186795 HGNC:19439 KCNQ3 gene KCNQ3 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Seizures, benign neonatal, type 2, 121201 False 1 0;0;100 7.20 False ENSG00000184156 ENSG00000184156 HGNC:6297 KIAA0586 gene KIAA0586 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Short-rib dysplasia 14 with polydactyly;Short-rib thoracic dysplasia 14 with polydactyly;Joubert syndrome 23;Joubert syndrome 26096313 False 1 0;0;100 7.20 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIF7 gene KIF7 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 12 200990;Acrocallosal syndrome 200990 21633164 False 1 0;0;100 7.20 False ENSG00000166813 ENSG00000166813 HGNC:30497 KYNU gene KYNU Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000115919 ENSG00000115919 HGNC:6469 LAMP2 gene LAMP2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000005893 ENSG00000005893 HGNC:6501 LARGE1 gene LARGE1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000133424 ENSG00000133424 HGNC:6511 LARS2 gene LARS2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000011376 ENSG00000011376 HGNC:17095 LBR gene LBR Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000143815 ENSG00000143815 HGNC:6518 LCAT gene LCAT Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000213398 ENSG00000213398 HGNC:6522 LCT gene LCT Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000115850 ENSG00000115850 HGNC:6530 LDHA gene LDHA Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000134333 ENSG00000134333 HGNC:6535 LDLR gene LDLR Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000130164 ENSG00000130164 HGNC:6547 LDLRAP1 gene LDLRAP1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000157978 ENSG00000157978 HGNC:18640 LIAS gene LIAS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000121897 ENSG00000121897 HGNC:16429 LIPA gene LIPA Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000107798 ENSG00000107798 HGNC:6617 LIPC gene LIPC Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000166035 ENSG00000166035 HGNC:6619 LIPT1 gene LIPT1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000144182 ENSG00000144182 HGNC:29569 LMBRD1 gene LMBRD1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000168216 ENSG00000168216 HGNC:23038 LONP1 gene LONP1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000196365 ENSG00000196365 HGNC:9479 LPIN1 gene LPIN1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000134324 ENSG00000134324 HGNC:13345 LPL gene LPL Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000175445 ENSG00000175445 HGNC:6677 LZTFL1 gene LZTFL1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000163818 ENSG00000163818 HGNC:6741 MAGT1 gene MAGT1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000102158 ENSG00000102158 HGNC:28880 MAN1B1 gene MAN1B1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000177239 ENSG00000177239 HGNC:6823 MAN2B1 gene MAN2B1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000104774 ENSG00000104774 HGNC:6826 MANBA gene MANBA Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000109323 ENSG00000109323 HGNC:6831 MAOA gene MAOA Expert Review Red;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) Brunner syndrome, 300615;Monoamine oxidase A deficiency 8211186;27830117;24169519 False 1 0;0;100 7.20 False ENSG00000189221 ENSG00000189221 HGNC:6833 MAPKBP1 gene MAPKBP1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000137802 ENSG00000137802 HGNC:29536 MAT1A gene MAT1A Expert Review Red;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology Unknown Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 False 1 0;0;100 7.20 False ENSG00000151224 ENSG00000151224 HGNC:6903 MCCC1 gene MCCC1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000078070 ENSG00000078070 HGNC:6936 MCCC2 gene MCCC2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000131844 ENSG00000131844 HGNC:6937 MCEE gene MCEE Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000124370 ENSG00000124370 HGNC:16732 MCOLN1 gene MCOLN1 Expert Review Red;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mucolipidosis IV, 252650 False 1 0;0;100 7.20 False ENSG00000090674 ENSG00000090674 HGNC:13356 MDH2 gene MDH2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000146701 ENSG00000146701 HGNC:6971 MFF gene MFF Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000168958 ENSG00000168958 HGNC:24858 MFN2 gene MFN2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000116688 ENSG00000116688 HGNC:16877 MFSD8 gene MFSD8 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000164073 ENSG00000164073 HGNC:28486 MGAT2 gene MGAT2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000168282 ENSG00000168282 HGNC:7045 MGME1 gene MGME1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000125871 ENSG00000125871 HGNC:16205 MKKS gene MKKS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal polydactyly;Joubert syndrome 28;Joubert syndrome;polycystic kidneys;occipital encephalocele;Meckel-Gruber syndrome;249000;renal fibrosis;Meckel syndrome;Bardet-Biedl syndrome 18327255;26490104;24886560;17437276;16415886 False 1 0;0;100 7.20 False Other - please provide details in the comments ENSG00000011143 ENSG00000011143 HGNC:7121 MLYCD gene MLYCD Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000103150 ENSG00000103150 HGNC:7150 MMAA gene MMAA Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000151611 ENSG00000151611 HGNC:18871 MMAB gene MMAB Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000139428 ENSG00000139428 HGNC:19331 MMACHC gene MMACHC Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC Expert Review Red;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, cblD type, variant 2;Homocystinuria, cblD type, variant 1;Methylmalonic aciduria and homocystinuria, cblD type, 277410 False 1 0;0;100 7.20 False ENSG00000168288 ENSG00000168288 HGNC:25221 MOCS1 gene MOCS1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS2 gene MOCS2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000164172 ENSG00000164172 HGNC:7193 MOGS gene MOGS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000115275 ENSG00000115275 HGNC:24862 MPDU1 gene MPDU1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000129255 ENSG00000129255 HGNC:7207 MPI gene MPI Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, OMIM:602579;MPI-CDG, MONDO:0011257 False 1 0;0;100 7.20 False ENSG00000178802 ENSG00000178802 HGNC:7216 MPV17 gene MPV17 Expert Review Red;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 False 1 0;0;100 7.20 False ENSG00000115204 ENSG00000115204 HGNC:7224 MR1 gene MR1 PanelApp;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia;Paroxysmal/Episodic dystonia False 1 0;0;100 7.20 False ENSG00000153029 ENSG00000153029 HGNC:4975 MRPL3 gene MRPL3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000114686 ENSG00000114686 HGNC:10379 MRPS22 gene MRPS22 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000175110 ENSG00000175110 HGNC:14508 MRPS34 gene MRPS34 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000074071 ENSG00000074071 HGNC:16618 MSMO1 gene MSMO1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 7.20 False ENSG00000052802 ENSG00000052802 HGNC:10545 MTHFR gene MTHFR Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000177000 ENSG00000177000 HGNC:7436 MTO1 gene MTO1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000135297 ENSG00000135297 HGNC:19261 MTPAP gene MTPAP Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000107951 ENSG00000107951 HGNC:25532 MTR gene MTR Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000124275 ENSG00000124275 HGNC:7473 MTTP gene MTTP Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000138823 ENSG00000138823 HGNC:7467 MUT gene MUT Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, mut(0) type 251000 False 1 0;0;100 7.20 False ENSG00000146085 ENSG00000146085 HGNC:7526 MVK gene MVK Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000110921 ENSG00000110921 HGNC:7530 NAGA gene NAGA Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000198951 ENSG00000198951 HGNC:7631 NAGLU gene NAGLU Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000108784 ENSG00000108784 HGNC:7632 NAGS gene NAGS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000161653 ENSG00000161653 HGNC:17996 NARS2 gene NARS2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000137513 ENSG00000137513 HGNC:26274 NDUFA11 gene NDUFA11 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA4 gene NDUFA4 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000189043 ENSG00000189043 HGNC:7687 NDUFA9 gene NDUFA9 PanelApp;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 26, 618247;Leigh syndrome due to mitochondrial complex I deficiency 256000 22114105 False 1 0;0;100 7.20 False ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAF1 gene NDUFAF1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFAF2 gene NDUFAF2 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 10, 618233 16200211;20818383;20571988 False 1 0;0;100 7.20 False ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF3 gene NDUFAF3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF4 gene NDUFAF4 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFB11 gene NDUFB11 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000147123 ENSG00000147123 HGNC:20372 NDUFB3 gene NDUFB3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000119013 ENSG00000119013 HGNC:7698 NDUFB9 gene NDUFB9 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000147684 ENSG00000147684 HGNC:7704 NDUFS2 gene NDUFS2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS3 gene NDUFS3 Expert Review Red;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 8, 618230;Mitochondrial complex I deficiency 252010;Leigh syndrome due to mitochondrial complex I deficiency 256000 False 1 0;0;100 7.20 False ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS6 gene NDUFS6 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFV2 gene NDUFV2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000178127 ENSG00000178127 HGNC:7717 NEK1 gene NEK1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000137601 ENSG00000137601 HGNC:7744 NEK8 gene NEK8 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000160602 ENSG00000160602 HGNC:13387 NEU1 gene NEU1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000204386 ENSG00000204386 HGNC:7758 NFU1 gene NFU1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000169599 ENSG00000169599 HGNC:16287 NHLRC1 gene NHLRC1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000187566 ENSG00000187566 HGNC:21576 NOP56 gene NOP56 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology Other Spinocerebellar ataxia 36, OMIM:614153 False 1 0;100;0 7.20 False ENSG00000101361 ENSG00000101361 HGNC:15911 NPHP1 gene NPHP1 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 4;609583 Nephronophthisis 1, juvenile;Senior-Loken syndrome;256100 Senior-Loken syndrome-1, 266900;Nephronophthisis 15689444;15138899;22982934 False 1 0;0;100 7.20 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 3, 604387;Senior-Loken syndrome;Renal-hepatic-pancreatic dysplasia 1, 208540;Nephronophthisis;Meckel syndrome 7, 267010;Renal-hepatic-pancreatic dysplasia False 1 0;0;100 7.20 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000131697 ENSG00000131697 HGNC:19104 NSDHL gene NSDHL Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000147383 ENSG00000147383 HGNC:13398 NT5C3A gene NT5C3A Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000122643 ENSG00000122643 HGNC:17820 NUBPL gene NUBPL Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000151413 ENSG00000151413 HGNC:20278 NUP62 gene NUP62 PanelApp;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Striatonigral degeneration, infantile 271930 16786527;12374138;14718703 False 1 0;0;100 7.20 False ENSG00000213024 ENSG00000213024 HGNC:8066 OAT gene OAT Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000065154 ENSG00000065154 HGNC:8091 OCLN gene OCLN Expert Review Red;London North GLH;NHS GMS;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Band-like calcification with simplified gyration and polymicrogyria, 251290 20727516 False 1 25;0;75 7.20 False ENSG00000197822 ENSG00000197822 HGNC:8104 OCRL gene OCRL Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000122126 ENSG00000122126 HGNC:8108 OFD1 gene OFD1 Expert Review Red;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) Joubert syndrome 10;X-linked Joubert syndrome;Orofaciodigital syndrome I 22353940;19800048 False 1 0;0;100 7.20 False ENSG00000046651 ENSG00000046651 HGNC:2567 OPA1 gene OPA1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000198836 ENSG00000198836 HGNC:8140 OPHN1 gene OPHN1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000079482 ENSG00000079482 HGNC:8148 OPLAH gene OPLAH Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000178814 ENSG00000178814 HGNC:8149 OTC gene OTC Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000036473 ENSG00000036473 HGNC:8512 OXCT1 gene OXCT1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000083720 ENSG00000083720 HGNC:8527 PAH gene PAH Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000171759 ENSG00000171759 HGNC:8582 PARK7 gene PARK7 PanelApp;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 7, autosomal recessive early-onset False 1 0;0;100 7.20 False ENSG00000116288 ENSG00000116288 HGNC:16369 PARS2 gene PARS2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000162396 ENSG00000162396 HGNC:30563 PAX6 gene PAX6 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000007372 ENSG00000007372 HGNC:8620 PC gene PC Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000173599 ENSG00000173599 HGNC:8636 PCBD1 gene PCBD1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000166228 ENSG00000166228 HGNC:8646 PCK1 gene PCK1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000124253 ENSG00000124253 HGNC:8724 PCSK9 gene PCSK9 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000169174 ENSG00000169174 HGNC:20001 PDGFRB gene PDGFRB Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia;Basal ganglia calcification, idiopathic, 4 615007 27984190;23255827;26129893;25292412 False 1 0;0;100 7.20 False ENSG00000113721 ENSG00000113721 HGNC:8804 PDHB gene PDHB Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000168291 ENSG00000168291 HGNC:8808 PDP1 gene PDP1 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase phosphatase deficiency, 608782 19184109;15855260 False 1 0;0;100 7.20 False ENSG00000164951 ENSG00000164951 HGNC:9279 PDPR gene PDPR Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000090857 ENSG00000090857 HGNC:30264 PDSS1 gene PDSS1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000148459 ENSG00000148459 HGNC:17759 PDSS2 gene PDSS2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000164494 ENSG00000164494 HGNC:23041 PDX1 gene PDX1 South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Pancreatic agenesis 1 260370;MODY, type IV 606392 False 1 0;0;100 7.20 False ENSG00000139515 ENSG00000139515 HGNC:6107 PEPD gene PEPD Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000124299 ENSG00000124299 HGNC:8840 PEX1 gene PEX1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000112357 ENSG00000112357 HGNC:8860 PFKM gene PFKM Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000152556 ENSG00000152556 HGNC:8877 PGAM2 gene PGAM2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000164708 ENSG00000164708 HGNC:8889 PGAP2 gene PGAP2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000148985 ENSG00000148985 HGNC:17893 PGAP3 gene PGAP3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000161395 ENSG00000161395 HGNC:23719 PGK1 gene PGK1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000102144 ENSG00000102144 HGNC:8896 PGM1 gene PGM1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000079739 ENSG00000079739 HGNC:8905 PGM3 gene PGM3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000013375 ENSG00000013375 HGNC:8907 PHGDH gene PHGDH Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000092621 ENSG00000092621 HGNC:8923 PHKA1 gene PHKA1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000067177 ENSG00000067177 HGNC:8925 PHKA2 gene PHKA2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000044446 ENSG00000044446 HGNC:8926 PHKB gene PHKB Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000102893 ENSG00000102893 HGNC:8927 PHKG2 gene PHKG2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000156873 ENSG00000156873 HGNC:8931 PHYH gene PHYH Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000107537 ENSG00000107537 HGNC:8940 PIGA gene PIGA Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000165195 ENSG00000165195 HGNC:8957 PIGL gene PIGL Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000108474 ENSG00000108474 HGNC:8966 PIGM gene PIGM Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000143315 ENSG00000143315 HGNC:18858 PIGN gene PIGN Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000197563 ENSG00000197563 HGNC:8967 PIGO gene PIGO Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000165282 ENSG00000165282 HGNC:23215 PIGT gene PIGT Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000124155 ENSG00000124155 HGNC:14938 PIGV gene PIGV Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000060642 ENSG00000060642 HGNC:26031 PITX3 gene PITX3 South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Disorders of Dopamine Synthesis Regulation False 1 0;0;100 7.20 False ENSG00000107859 ENSG00000107859 HGNC:9006 PKD1 gene PKD1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000118762 ENSG00000118762 HGNC:9009 PKHD1 gene PKHD1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000170927 ENSG00000170927 HGNC:9016 PMM2 gene PMM2 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065 9140401 False 1 0;0;100 7.20 False ENSG00000140650 ENSG00000140650 HGNC:9115 PMPCA gene PMPCA Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000165688 ENSG00000165688 HGNC:18667 PNP gene PNP Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000198805 ENSG00000198805 HGNC:7892 PNPLA6 gene PNPLA6 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000032444 ENSG00000032444 HGNC:16268 PNPO gene PNPO Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000108439 ENSG00000108439 HGNC:30260 POLG gene POLG Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG2 gene POLG2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000256525 ENSG00000256525 HGNC:9180 POMGNT1 gene POMGNT1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMT1 gene POMT1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000009830 ENSG00000009830 HGNC:19743 POR gene POR Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000127948 ENSG00000127948 HGNC:9208 PPA2 gene PPA2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000138777 ENSG00000138777 HGNC:28883 PPOX gene PPOX Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000143224 ENSG00000143224 HGNC:9280 PPP2R2B gene PPP2R2B Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology Other Spinocerebellar ataxia 12, OMIM:604326 False 1 0;100;0 7.20 False ENSG00000156475 ENSG00000156475 HGNC:9305 PPT1 gene PPT1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000131238 ENSG00000131238 HGNC:9325 PRKAG2 gene PRKAG2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000106617 ENSG00000106617 HGNC:9386 PRNP gene PRNP Expert Review Red;London North GLH;NHS GMS;PanelApp Childhood 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 16831973 False 1 33;0;67 7.20 False ENSG00000171867 ENSG00000171867 HGNC:9449 PRODH gene PRODH Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000100033 ENSG00000100033 HGNC:9453 PRPS1 gene PRPS1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000147224 ENSG00000147224 HGNC:9462 PSAP gene PSAP Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000197746 ENSG00000197746 HGNC:9498 PSAT1 gene PSAT1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000135069 ENSG00000135069 HGNC:19129 PSEN1 gene PSEN1 South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Alzheimer disease, type 3, 607822;Pick disease, 172700;Dementia, frontotemporal 600274;Cardiomyopathy, dilated, 1U, 613694 False 1 0;0;100 7.20 False ENSG00000080815 ENSG00000080815 HGNC:9508 PSPH gene PSPH Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000146733 ENSG00000146733 HGNC:9577 PTEN gene PTEN South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lhermitte-Duclos syndrome, 158350;Cowden syndrome 1, 158350;Macrocephaly/autism syndrome, 605309;VATER association with macrocephaly and ventriculomegaly, 276950 False 1 0;0;100 7.20 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTF1A gene PTF1A Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000168267 ENSG00000168267 HGNC:23734 PUS1 gene PUS1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000177192 ENSG00000177192 HGNC:15508 PYCR1 gene PYCR1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000183010 ENSG00000183010 HGNC:9721 PYGL gene PYGL Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000100504 ENSG00000100504 HGNC:9725 PYGM gene PYGM Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000068976 ENSG00000068976 HGNC:9726 QARS gene QARS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000172053 ENSG00000172053 HGNC:9751 RANBP2 gene RANBP2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000153201 ENSG00000153201 HGNC:9848 RARS2 gene RARS2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000146282 ENSG00000146282 HGNC:21406 RBCK1 gene RBCK1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000125826 ENSG00000125826 HGNC:15864 RBP4 gene RBP4 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000138207 ENSG00000138207 HGNC:9922 RELN gene RELN Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000189056 ENSG00000189056 HGNC:9957 RFT1 gene RFT1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000163933 ENSG00000163933 HGNC:30220 RMND1 gene RMND1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000155906 ENSG00000155906 HGNC:21176 RNASEH1 gene RNASEH1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000171865 ENSG00000171865 HGNC:18466 RNF170 gene RNF170 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000120925 ENSG00000120925 HGNC:25358 RNF216 gene RNF216 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000011275 ENSG00000011275 HGNC:21698 ROBO3 gene ROBO3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000154134 ENSG00000154134 HGNC:13433 RPGRIP1L gene RPGRIP1L Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 7;Joubert syndrome;Meckel-Gruber syndrome;Meckel syndrome 5;Meckel syndrome 17558409;17558407;19574260 False 1 0;0;100 7.20 False ENSG00000103494 ENSG00000103494 HGNC:29168 RPIA gene RPIA Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000153574 ENSG00000153574 HGNC:10297 RPL10 gene RPL10 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000147403 ENSG00000147403 HGNC:10298 RRM2B gene RRM2B Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000048392 ENSG00000048392 HGNC:17296 RYR1 gene RYR1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000196218 ENSG00000196218 HGNC:10483 SAR1B gene SAR1B Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000152700 ENSG00000152700 HGNC:10535 SARS2 gene SARS2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000104835 ENSG00000104835 HGNC:17697 SBDS gene SBDS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000126524 ENSG00000126524 HGNC:19440 SC5D gene SC5D Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000109929 ENSG00000109929 HGNC:10547 SCN9A gene SCN9A South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Paroxysmal extreme pain disorder, 167400;Erythermalgia, Primary;Erythermalgia, primary, 133020;Hereditary Sensory Neuropathy;Insensitivity to pain, channelopathy-associated, 243000;Congenital Indifference to Pain;Epilepsy, generalized, with febrile seizures plus, type 7, 613863;Dysosteosclerosis;Febrile seizures, familial, 3B, 613863;Paroxysmal Extreme Pain Disorder False 1 0;0;100 7.20 False ENSG00000169432 ENSG00000169432 HGNC:10597 SCO1 gene SCO1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000130489 ENSG00000130489 HGNC:10604 SCP2 gene SCP2 Expert Review Red;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology Unknown ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 False 1 0;0;100 7.20 False ENSG00000116171 ENSG00000116171 HGNC:10606 SDCCAG8 gene SDCCAG8 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000054282 ENSG00000054282 HGNC:10671 SDHA gene SDHA Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, 256000;Mitochondrial respiratory chain complex II deficiency, 252011;Cardiomyopathy, dilated, 1GG, 613642 False 1 0;0;100 7.20 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 Expert Review Red;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, 252011 False 1 0;0;100 7.20 False ENSG00000205138 ENSG00000205138 HGNC:33867 SDHAF2 gene SDHAF2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000167985 ENSG00000167985 HGNC:26034 SDHB gene SDHB Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHC gene SDHC Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000143252 ENSG00000143252 HGNC:10682 SDHD gene SDHD Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000204370 ENSG00000204370 HGNC:10683 SEC23B gene SEC23B Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000101310 ENSG00000101310 HGNC:10702 SEPSECS gene SEPSECS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000109618 ENSG00000109618 HGNC:30605 SGSH gene SGSH Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000181523 ENSG00000181523 HGNC:10818 SI gene SI Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000090402 ENSG00000090402 HGNC:10856 SKIV2L gene SKIV2L Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000204351 ENSG00000204351 HGNC:10898 SLC12A3 gene SLC12A3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology Gitelman syndrome, OMIM: 263800;Gitelman syndrome, MONDO:0009904 22009145;27604308;26770037;30999883 False 1 0;0;100 7.20 False ENSG00000070915 ENSG00000070915 HGNC:10912 SLC16A1 gene SLC16A1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000155380 ENSG00000155380 HGNC:10922 SLC17A5 gene SLC17A5 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000119899 ENSG00000119899 HGNC:10933 SLC19A2 gene SLC19A2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000117479 ENSG00000117479 HGNC:10938 SLC22A5 gene SLC22A5 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A1 gene SLC25A1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A12 gene SLC25A12 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000115840 ENSG00000115840 HGNC:10982 SLC25A13 gene SLC25A13 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A15 gene SLC25A15 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000102743 ENSG00000102743 HGNC:10985 SLC25A19 gene SLC25A19 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Microcephaly, Amish type 607196;Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710 19798730;12185364;17035501 False 1 0;0;100 7.20 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A20 gene SLC25A20 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A22 gene SLC25A22 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000177542 ENSG00000177542 HGNC:19954 SLC25A26 gene SLC25A26 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000144741 ENSG00000144741 HGNC:20661 SLC25A3 gene SLC25A3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000075415 ENSG00000075415 HGNC:10989 SLC25A38 gene SLC25A38 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000144659 ENSG00000144659 HGNC:26054 SLC25A4 gene SLC25A4 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000151729 ENSG00000151729 HGNC:10990 SLC25A46 gene SLC25A46 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000164209 ENSG00000164209 HGNC:25198 SLC2A2 gene SLC2A2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000163581 ENSG00000163581 HGNC:11006 SLC35A1 gene SLC35A1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000164414 ENSG00000164414 HGNC:11021 SLC35A2 gene SLC35A2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000102100 ENSG00000102100 HGNC:11022 SLC35C1 gene SLC35C1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000181830 ENSG00000181830 HGNC:20197 SLC35D1 gene SLC35D1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000116704 ENSG00000116704 HGNC:20800 SLC37A4 gene SLC37A4 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000137700 ENSG00000137700 HGNC:4061 SLC39A4 gene SLC39A4 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000147804 ENSG00000147804 HGNC:17129 SLC39A8 gene SLC39A8 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000138821 ENSG00000138821 HGNC:20862 SLC3A1 gene SLC3A1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000138079 ENSG00000138079 HGNC:11025 SLC40A1 gene SLC40A1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000138449 ENSG00000138449 HGNC:10909 SLC46A1 gene SLC46A1 Expert Review Red;London North GLH;South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Folate malabsorption, hereditary, OMIM:229050 False 1 0;0;100 7.20 False ENSG00000076351 ENSG00000076351 HGNC:30521 SLC52A2 gene SLC52A2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000101276 ENSG00000101276 HGNC:16187 SLC5A1 gene SLC5A1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000100170 ENSG00000100170 HGNC:11036 SLC6A19 gene SLC6A19 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A20 gene SLC6A20 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000163817 ENSG00000163817 HGNC:30927 SLC7A7 gene SLC7A7 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000155465 ENSG00000155465 HGNC:11065 SLC7A9 gene SLC7A9 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000021488 ENSG00000021488 HGNC:11067 SLC9A6 gene SLC9A6 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000198689 ENSG00000198689 HGNC:11079 SMPD1 gene SMPD1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000166311 ENSG00000166311 HGNC:11120 SMPD4 gene SMPD4 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000136699 ENSG00000136699 HGNC:32949 SPTBN2 gene SPTBN2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000173898 ENSG00000173898 HGNC:11276 SPTLC1 gene SPTLC1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000090054 ENSG00000090054 HGNC:11277 SPTLC2 gene SPTLC2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000100596 ENSG00000100596 HGNC:11278 SRD5A3 gene SRD5A3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000128039 ENSG00000128039 HGNC:25812 SSR4 gene SSR4 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000180879 ENSG00000180879 HGNC:11326 ST3GAL3 gene ST3GAL3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000126091 ENSG00000126091 HGNC:10866 ST3GAL5 gene ST3GAL5 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000115525 ENSG00000115525 HGNC:10872 STS gene STS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000101846 ENSG00000101846 HGNC:11425 STT3A gene STT3A Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000134910 ENSG00000134910 HGNC:6172 SUCLG1 gene SUCLG1 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 False 1 0;0;100 7.20 False ENSG00000163541 ENSG00000163541 HGNC:11449 SUFU gene SUFU Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 32, OMIM:617757 False 1 0;0;100 7.20 False ENSG00000107882 ENSG00000107882 HGNC:16466 SUMF1 gene SUMF1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000144455 ENSG00000144455 HGNC:20376 SYNE1 gene SYNE1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000131018 ENSG00000131018 HGNC:17089 TACO1 gene TACO1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000136463 ENSG00000136463 HGNC:24316 TALDO1 gene TALDO1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000177156 ENSG00000177156 HGNC:11559 TANGO2 gene TANGO2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000183597 ENSG00000183597 HGNC:25439 TAT gene TAT Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000198650 ENSG00000198650 HGNC:11573 TAZ gene TAZ Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000102125 ENSG00000102125 HGNC:11577 TCN2 gene TCN2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000185339 ENSG00000185339 HGNC:11653 TCTEX1D2 gene TCTEX1D2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 7.20 False ENSG00000213123 ENSG00000213123 HGNC:28482 TCTN1 gene TCTN1 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20301500;22693042;28631893;21725307;26477546;26489806 False 1 0;0;100 7.20 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Meckel syndrome;Joubert syndrome, Meckel-Gruber syndrome;Joubert syndrome 24 21565611;25118024 False 1 0;0;100 7.20 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Meckel-Gruber;Joubert syndrome;Joubert syndrome 18;Orofaciodigital syndrome IV;Mohr-Majewski syndrome 22883145;25118024 False 1 0;0;100 7.20 False ENSG00000119977 ENSG00000119977 HGNC:24519 TERT gene TERT Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000164362 ENSG00000164362 HGNC:11730 TFR2 gene TFR2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000106327 ENSG00000106327 HGNC:11762 TIMM50 gene TIMM50 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000105197 ENSG00000105197 HGNC:23656 TINF2 gene TINF2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000092330 ENSG00000092330 HGNC:11824 TK2 gene TK2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000166548 ENSG00000166548 HGNC:11831 TMEM107 gene TMEM107 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XVI 617563;?Joubert syndrome 29 617562;Meckel syndrome 13 617562 22698544;26595381;26123494;26518474 False 1 0;0;100 7.20 False ENSG00000179029 ENSG00000179029 HGNC:28128 TMEM126B gene TMEM126B Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000171204 ENSG00000171204 HGNC:30883 TMEM138 gene TMEM138 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 16;Joubert syndrome with oculorenal defect 22282472 False 1 0;0;100 7.20 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM165 gene TMEM165 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000134851 ENSG00000134851 HGNC:30760 TMEM216 gene TMEM216 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome: Meckel-Gruber syndrome;Joubert syndrome 2;Meckel syndrome;Joubert syndrome with oculorenal defect 22282472;20512146;20036350 False 1 0;0;100 7.20 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20;Meckel syndrome 11, 615397;Joubert syndrome 20, 614970;Meckel syndrome;Joubert syndrome with oculorenal defect False 1 0;0;100 7.20 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 14;Joubert syndrome;Joubert syndrome with oculorenal defect 20301500;22152675 False 1 0;0;100 7.20 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM5 gene TMEM5 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000118600 ENSG00000118600 HGNC:13530 TMEM67 gene TMEM67 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal 613550;607361;Joubert syndrome;?Bardet-Biedl syndrome?;COACH syndrome;216360;Joubert syndrome 6;Meckel-Gruber syndrome;Meckel syndrome;nephronophthisis;Senior-Boichis syndrome;610688;Nephronophthisis 11 PMID: 17160906;PMID: 19058225;PMID: 20607301;PMID: 16415887;PMID: 18327255;PMID: 19508969 False 1 0;0;100 7.20 False ENSG00000164953 ENSG00000164953 HGNC:28396 TMEM70 gene TMEM70 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000175606 ENSG00000175606 HGNC:26050 TOE1 gene TOE1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000132773 ENSG00000132773 HGNC:15954 TRAF3IP1 gene TRAF3IP1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000204104 ENSG00000204104 HGNC:17861 TREM2 gene TREM2 South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193;Alzheimers disease;Frontotemporal dementia False 1 0;0;100 7.20 False ENSG00000095970 ENSG00000095970 HGNC:17761 TRIM37 gene TRIM37 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000108395 ENSG00000108395 HGNC:7523 TRMU gene TRMU Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000100416 ENSG00000100416 HGNC:25481 TRNT1 gene TRNT1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000072756 ENSG00000072756 HGNC:17341 TRPM6 gene TRPM6 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000119121 ENSG00000119121 HGNC:17995 TSEN2 gene TSEN2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN34 gene TSEN34 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000170892 ENSG00000170892 HGNC:15506 TSEN54 gene TSEN54 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000182173 ENSG00000182173 HGNC:27561 TSFM gene TSFM Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000123297 ENSG00000123297 HGNC:12367 TTC19 gene TTC19 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000011295 ENSG00000011295 HGNC:26006 TTC21B gene TTC21B Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000123607 ENSG00000123607 HGNC:25660 TTC37 gene TTC37 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000198677 ENSG00000198677 HGNC:23639 TTC8 gene TTC8 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000165533 ENSG00000165533 HGNC:20087 TTPA gene TTPA Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000137561 ENSG00000137561 HGNC:12404 TUBA1A gene TUBA1A Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 3 611603 False 1 0;0;100 7.20 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBA8 gene TUBA8 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000183785 ENSG00000183785 HGNC:12410 TUBB2B gene TUBB2B Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000137285 ENSG00000137285 HGNC:30829 TUBB3 gene TUBB3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000258947 ENSG00000258947 HGNC:20772 TUFM gene TUFM Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000178952 ENSG00000178952 HGNC:12420 TUSC3 gene TUSC3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000104723 ENSG00000104723 HGNC:30242 TWNK gene TWNK Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000107815 ENSG00000107815 HGNC:1160 TXNDC15 gene TXNDC15 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Meckel-Gruber syndrome;MGS 27894351 False 1 0;0;100 7.20 False ENSG00000113621 ENSG00000113621 HGNC:20652 TYMP gene TYMP Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000025708 ENSG00000025708 HGNC:3148 UGT1A1 gene UGT1A1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000241635 ENSG00000241635 HGNC:12530 UMOD gene UMOD Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000169344 ENSG00000169344 HGNC:12559 UMPS gene UMPS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000114491 ENSG00000114491 HGNC:12563 UQCRB gene UQCRB Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000156467 ENSG00000156467 HGNC:12582 UQCRQ gene UQCRQ Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000164405 ENSG00000164405 HGNC:29594 UROC1 gene UROC1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000159650 ENSG00000159650 HGNC:26444 UROD gene UROD Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000126088 ENSG00000126088 HGNC:12591 UROS gene UROS Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000188690 ENSG00000188690 HGNC:12592 VARS2 gene VARS2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000137411 ENSG00000137411 HGNC:21642 VIPAS39 gene VIPAS39 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000151445 ENSG00000151445 HGNC:20347 VKORC1 gene VKORC1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000167397 ENSG00000167397 HGNC:23663 VLDLR gene VLDLR Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000147852 ENSG00000147852 HGNC:12698 VPS13B gene VPS13B Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Cohen syndrome, 216550;COHEN SYNDROME False 1 0;0;100 7.20 False ENSG00000132549 ENSG00000132549 HGNC:2183 VPS33B gene VPS33B Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000184056 ENSG00000184056 HGNC:12712 VPS37A gene VPS37A South West GLH Childhood onset dystonia, chorea or related movement disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 53, autosomal recessive, 614898 False 1 0;0;100 7.20 False ENSG00000155975 ENSG00000155975 HGNC:24928 VPS53 gene VPS53 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000141252 ENSG00000141252 HGNC:25608 VRK1 gene VRK1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000100749 ENSG00000100749 HGNC:12718 WDPCP gene WDPCP Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000143951 ENSG00000143951 HGNC:28027 WDR19 gene WDR19 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR34 gene WDR34 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000119333 ENSG00000119333 HGNC:28296 WDR35 gene WDR35 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000118965 ENSG00000118965 HGNC:29250 WDR81 gene WDR81 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000167716 ENSG00000167716 HGNC:26600 XDH gene XDH Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000158125 ENSG00000158125 HGNC:12805 XK gene XK Expert list;Expert Review Red 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) McLeod syndrome with or without chronic granulomatous disease, OMIM:300842;McLeod neuroacanthocytosis syndrome, MONDO:0018945 11761473;8004674;11032622;11261514;33652783;30128557;8619554 False 1 50;0;50 7.20 False ENSG00000047597 ENSG00000047597 HGNC:12811 XPNPEP3 gene XPNPEP3 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000196236 ENSG00000196236 HGNC:28052 XPR1 gene XPR1 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 6 616413 25938945 False 1 0;0;100 7.20 False ENSG00000143324 ENSG00000143324 HGNC:12827 XYLT1 gene XYLT1 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology Desbuquois dysplasia 2, OMIM:615777;Desbuquois dysplasia 2, MONDO:0014343 23982343;24581741;22711505;30554721 False 1 0;0;100 7.20 False ENSG00000103489 ENSG00000103489 HGNC:15516 XYLT2 gene XYLT2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000015532 ENSG00000015532 HGNC:15517 YARS2 gene YARS2 Expert Review Red;London North GLH Childhood onset dystonia, chorea or related movement disorder Neurology False 1 0;0;100 7.20 False ENSG00000139131 ENSG00000139131 HGNC:24249 ZNF423 gene ZNF423 Expert Review Red;London North GLH;PanelApp Childhood onset dystonia, chorea or related movement disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844 False 1 0;0;100 7.20 False ENSG00000102935 ENSG00000102935 HGNC:16762 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 C9orf72_GGGGCC str C9orf72 Expert Review Red;Expert list;London North GLH;NHS GMS Childhood 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 1 100;0;0 7.20 False ENSG00000147894 ENSG00000147894 HGNC:28337 9 27573527 27573544 27573529 27573546 GGGGCC 24 200