Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ACTB gene ACTB Expert Review Green;Radboud University Medical Center, Nijmegen Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia, juvenile-onset OMIM:607371;developmental malformations-deafness-dystonia syndrome MONDO:0011823;Baraitser-Winter syndrome 1 OMIM:243310;Baraitser-Winter syndrome 1 MONDO:0009470 31970217;29788902;28849312;27862284;29220674;25255767 False 3 100;0;0 1.152 False ENSG00000075624 ENSG00000075624 HGNC:132 ADAR gene ADAR Emory Genetics Laboratory;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, OMIM:615010;Dyschromatosis symmetrica hereditaria, OMIM:127400 28139822 False 3 100;0;0 1.152 False ENSG00000160710 ENSG00000160710 HGNC:225 ADCY5 gene ADCY5 Expert Review;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskinesia, familial, with facial myokymia, 606703; dystonia False 3 100;0;0 1.152 False ENSG00000173175 ENSG00000173175 HGNC:236 AFG3L2 gene AFG3L2 Emory Genetics Laboratory;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia 28, OMIM:610246;Spastic ataxia 5, autosomal recessive, OMIM:614487 False 3 0;100;0 1.152 False ENSG00000141385 ENSG00000141385 HGNC:315 ANO3 gene ANO3 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 24, 615034;familial form of cranio-cervical dystonia "25847575;24442708;24151159 ""Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis"";24094724 ""Rare variants in ANO3 are not a susceptibility factor in essential tremor"";23200863;27392807" False 3 0;0;0 1.152 False ENSG00000134343 ENSG00000134343 HGNC:14004 APTX gene APTX Emory Genetics Laboratory;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia False 3 0;0;0 1.152 False ENSG00000137074 ENSG00000137074 HGNC:15984 ARX gene ARX Emory Genetics Laboratory;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Developmental and epileptic encephalopathy 1, OMIM:308350;X-linked spasticity-intellectual disability-epilepsy syndromeMONDO:0017856;Partington syndrome, OMIM:309510;Partington syndrome, MONDO:0010654 31324350;29778428;23657928;29343471 False 3 100;0;0 1.152 False ENSG00000004848 ENSG00000004848 HGNC:18060 ATM gene ATM Emory Genetics Laboratory;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, OMIM:208900 False 3 0;0;0 1.152 False ENSG00000149311 ENSG00000149311 HGNC:795 ATP13A2 gene ATP13A2 Emory Genetics Laboratory;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia;Parkinson disease;Kufor-Rakeb syndrome False 3 0;0;0 1.152 False ENSG00000159363 ENSG00000159363 HGNC:30213 ATP1A3 gene ATP1A3 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rapid-Onset Dystonia-Parkinsonism;Dystonia-12, 128235 http://www.ncbi.nlm.nih.gov/books/NBK1155/ False 3 100;0;0 1.152 False ENSG00000105409 ENSG00000105409 HGNC:801 ATP7B gene ATP7B Emory Genetics Laboratory;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia;Wilson Disease False 3 0;0;0 1.152 False ENSG00000123191 ENSG00000123191 HGNC:870 BCAP31 gene BCAP31 Expert Review Green;Radboud University Medical Center, Nijmegen Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, dystonia and cerebellar hypomyelination, 300475;DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS 28332767;24011989 False 3 0;0;100 1.152 False ENSG00000185825 ENSG00000185825 HGNC:16695 C19orf12 gene C19orf12 Emory Genetics Laboratory;Expert Review;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Spastic paraplegia 43, autosomal recessive, OMIM:615043;Neurodegeneration with brain iron accumulation 4, OMIM: 614298 23269600;21981780;29295770;31087512 False 3 0;0;0 1.152 False ENSG00000131943 ENSG00000131943 HGNC:25443 CHMP2B gene CHMP2B Emory Genetics Laboratory;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia;Frontotemporal dementia and/or amyotrophic lateral sclerosis 1;familial frontotemporal lobar degeneration (ALS17) False 3 0;0;0 1.152 False ENSG00000083937 ENSG00000083937 HGNC:24537 COASY gene COASY Expert Review;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 6, OMIM:615643;neurodegeneration with brain iron accumulation 6, MONDO:0014290 11980892;25778941;24360804;27021474;28489334;30089828;36495139 False 3 0;0;0 1.152 False ENSG00000068120 ENSG00000068120 HGNC:29932 CP gene CP Emory Genetics Laboratory;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia;Aceruloplasminemia;Cerebellar ataxia, 604290;Hemosiderosis, systemic, due to aceruloplasminemia, 604290 False 3 0;0;0 1.152 False ENSG00000047457 ENSG00000047457 HGNC:2295 CSTB gene CSTB Expert Review;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 26843564 False 3 100;0;0 1.152 False ENSG00000160213 ENSG00000160213 HGNC:2482 DCAF17 gene DCAF17 Emory Genetics Laboratory;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia;Woodhouse-Sakati syndrome False 3 0;0;0 1.152 False ENSG00000115827 ENSG00000115827 HGNC:25784 DDC gene DDC Emory Genetics Laboratory;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency, OMIM:608643;Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084;Floppy child;Dystonia;Hypotonia;Developmental delay;Oculogyric crisis 28100251;30952622 False 3 100;0;0 1.152 False ENSG00000132437 ENSG00000132437 HGNC:2719 DLAT gene DLAT Emory Genetics Laboratory;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal episodic dystonia;pyruvate dehydrogenase deficiency;Pyruvate dehydrogenase E2 deficiency 20022530;16049940 False 3 0;100;0 1.152 False ENSG00000150768 ENSG00000150768 HGNC:2896 FA2H gene FA2H Emory Genetics Laboratory;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia;fatty acid hydroxylase-associated neurodegeneration False 3 0;0;0 1.152 False ENSG00000103089 ENSG00000103089 HGNC:21197 FBXO7 gene FBXO7 Emory Genetics Laboratory;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia;juvenile parkinsonism False 3 0;0;0 1.152 False ENSG00000100225 ENSG00000100225 HGNC:13586 FOXG1 gene FOXG1 Emory Genetics Laboratory;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rett Syndrome, congenital variant OMIM:613454 21441262;19564653;19578037;27029630;34399161;31316448 False 3 100;0;0 1.152 False ENSG00000176165 ENSG00000176165 HGNC:3811 FTL gene FTL Expert Review;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration with brain iron accumulation 3 False 3 0;0;0 1.152 False ENSG00000087086 ENSG00000087086 HGNC:3999 GCH1 gene GCH1 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230;Hyperphenylalaninemia, BH4-deficient, B, 233910;Dopa-Responsive Dystonia (DRD) http://www.ncbi.nlm.nih.gov/books/NBK1155/ False 3 0;0;0 1.152 False ENSG00000131979 ENSG00000131979 HGNC:4193 GNAO1 gene GNAO1 Expert Review Green;Other Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with involuntary movements, 617493 26060304; 27625011; 25966631; 28357411; 27068059 False 3 0;0;0 1.152 False ENSG00000087258 ENSG00000087258 HGNC:4389 HPCA gene HPCA Expert list;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 2, torsion, autosomal recessive, 224500;childhood-onset generalized dystonia;adolescence-onset segmental dystonia;generalized dystonia with additional neurological features 30145809;25799108 False 3 100;0;0 1.152 False ENSG00000121905 ENSG00000121905 HGNC:5144 HPRT1 gene HPRT1 Emory Genetics Laboratory;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lesch-Nyhan syndrome, OMIM:300322 16549399 False 3 100;0;0 1.152 False ENSG00000165704 ENSG00000165704 HGNC:5157 HTRA2 gene HTRA2 Expert Review Green;Literature Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "3-methylglutaconic aciduria, type VIII 617248" 27208207; 27696117 False 3 100;0;0 1.152 False ENSG00000115317 ENSG00000115317 HGNC:14348 KMT2B gene KMT2B Expert Review Green;Literature Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 28, childhood-onset, OMIM:617284;early-onset dystonia 27992417 False 3 100;0;0 1.152 False ENSG00000272333 ENSG00000272333 HGNC:15840 MECR gene MECR Expert Review;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal " Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282" False 3 100;0;0 1.152 False ENSG00000116353 ENSG00000116353 HGNC:19691 NDUFA12 gene NDUFA12 Expert Review Green;Literature Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 21617257;33715266;35141356 False 3 50;0;50 1.152 False ENSG00000184752 ENSG00000184752 HGNC:23987 NKX6-2 gene NKX6-2 Expert Review Green;Literature Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560" 28575651; 15601927 False 3 100;0;0 1.152 False ENSG00000148826 ENSG00000148826 HGNC:19321 PANK2 gene PANK2 Emory Genetics Laboratory;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia;pantothenate kinase-associated neurodegeneration False 3 0;0;0 1.152 False ENSG00000125779 ENSG00000125779 HGNC:15894 PINK1 gene PINK1 Emory Genetics Laboratory;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia Parkinson disease 6, early onset False 3 0;0;0 1.152 False ENSG00000158828 ENSG00000158828 HGNC:14581 PLA2G6 gene PLA2G6 Expert Review;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal PLA2G6-associated neurodegeneration False 3 0;0;0 1.152 False ENSG00000184381 ENSG00000184381 HGNC:9039 PNKD gene PNKD Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial Paroxysmal Nonkinesigenic Dyskinesia;Paroxysmal nonkinesigenic dyskinesia, 118800 http://www.ncbi.nlm.nih.gov/books/NBK1155/ False 3 0;0;0 1.152 False ENSG00000127838 ENSG00000127838 HGNC:9153 PRKN gene PRKN Emory Genetics Laboratory;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia;juvenile parkinsonism/dystonia;Parkinson disease, juvenile, type 2 False 3 0;0;0 1.152 False ENSG00000185345 ENSG00000185345 HGNC:8607 PRKRA gene PRKRA Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia;Dystonia 16, 612067;early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa http://www.ncbi.nlm.nih.gov/books/NBK1155/;26990861;25737287;25142429;25914261;22842711;18243799;24142417;18420150;26990861 False 3 50;50;0 1.152 False ENSG00000180228 ENSG00000180228 HGNC:9438 PRRT2 gene PRRT2 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic kinesigenic dyskinesia 1, 128200;Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions http://www.ncbi.nlm.nih.gov/books/NBK1155/ False 3 0;0;0 1.152 False ENSG00000167371 ENSG00000167371 HGNC:30500 SERAC1 gene SERAC1 Emory Genetics Laboratory;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739;Dystonia 29205472;22683713;16527507;28482397;28778788;27186703;27604308 False 3 100;0;0 1.152 False ENSG00000122335 ENSG00000122335 HGNC:21061 SGCE gene SGCE Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Myoclonus-Dystonia;maternally imprinted Dystonia-11, myoclonic, 159900;Myoclonus dystonia syndrome http://www.ncbi.nlm.nih.gov/books/NBK1155/;11528394;12325078 False 3 100;0;0 1.152 False ENSG00000127990 ENSG00000127990 HGNC:10808 SLC2A1 gene SLC2A1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dystonia;GLUT1 deficiency syndrome 1, 606777;GLUT1 deficiency syndrome 2, childhood onset;GLUT1 deficiency syndrome 1, infantile onset, severe;GLUT1 deficiency syndrome 1;GLUT1 deficiency syndrome 2 http://www.ncbi.nlm.nih.gov/books/NBK1155/ False 3 0;0;0 1.152 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC30A10 gene SLC30A10 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 1, OMIM:613280;Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease 25778823;22341971;22341972;22926781;22934317 False 3 100;0;0 1.152 False ENSG00000196660 ENSG00000196660 HGNC:25355 SLC6A3 gene SLC6A3 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal {Nicotine dependence, protection against}, 188890; Parkinsonism-dystonia, infantile, 613135 PMID: 24613933 False 3 0;0;0 1.152 False ENSG00000142319 ENSG00000142319 HGNC:11049 SPATA5L1 gene SPATA5L1 Expert Review Green;Literature Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616 34626583 False 3 100;0;0 1.152 False ENSG00000171763 ENSG00000171763 HGNC:28762 SPR gene SPR Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716;paediatric form of dopa responsive dystonia http://www.ncbi.nlm.nih.gov/books/NBK1155/ False 3 100;0;0 1.152 False ENSG00000116096 ENSG00000116096 HGNC:11257 SYNJ1 gene SYNJ1 Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal juvenile Parkinsonism;Parkinson disease 20, early-onset 23804577;23804563;27496670 False 3 100;0;0 1.152 False ENSG00000159082 ENSG00000159082 HGNC:11503 TH gene TH Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Segawa syndrome, recessive, 605407;paediatric form of dopa responsive dystonia;Segawa syndrome;DOPA-responsive dystonia http://www.ncbi.nlm.nih.gov/books/NBK1155/ False 3 0;0;0 1.152 False ENSG00000180176 ENSG00000180176 HGNC:11782 THAP1 gene THAP1 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia;Dystonia 6, torsion, 602629 http://www.ncbi.nlm.nih.gov/books/NBK1155/ False 3 0;0;0 1.152 False ENSG00000131931 ENSG00000131931 HGNC:20856 TOR1A gene TOR1A Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Dystonia-1, torsion, OMIM:128100;Arthrogryposis multiplex congenita 5, OMIM:618947 http://www.ncbi.nlm.nih.gov/books/NBK1155/;9288096;16537570;17503336;11523564;20301665 False 3 0;0;0 1.152 False ENSG00000136827 ENSG00000136827 HGNC:3098 TUBB4A gene TUBB4A Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia;?Dystonia 4, torsion, autosomal dominant, 128101;hereditary whispering dysphonia 27809427 False 3 100;0;0 1.152 False ENSG00000104833 ENSG00000104833 HGNC:20774 VAC14 gene VAC14 Expert Review;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Striatonigral degeneration, childhood-onset 617054" False 3 100;0;0 1.152 False ENSG00000103043 ENSG00000103043 HGNC:25507 VPS13A gene VPS13A Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex parkinsonism False 3 100;0;0 1.152 False ENSG00000197969 ENSG00000197969 HGNC:1908 WDR45 gene WDR45 Emory Genetics Laboratory;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Dystonia;beta-propeller protein-associated neurodegeneration False 3 0;0;0 1.152 False ENSG00000196998 ENSG00000196998 HGNC:28912 WDR73 gene WDR73 Expert list;Expert Review Green Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 1, 251300 False 3 0;0;0 1.152 False ENSG00000177082 ENSG00000177082 HGNC:25928 YY1 gene YY1 Expert Review Green;Literature Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Gabriele-de Vries syndrome 617557" 28575647 False 3 100;0;0 1.152 False ENSG00000100811 ENSG00000100811 HGNC:12856 CIZ1 gene CIZ1 Expert Review Amber;Radboud University Medical Center, Nijmegen Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia 23, 614860 False 2 0;0;0 1.152 False ENSG00000148337 ENSG00000148337 HGNC:16744 GNAL gene GNAL Expert Review Amber;Radboud University Medical Center, Nijmegen Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 25, 615073 http://www.ncbi.nlm.nih.gov/books/NBK1155/;27222887;27123488;27093447;26810727;26725140;26506956;26365774;25847575;25382112;23222958;23449625;23759320;24151159;24408567;24535567;24729450;25382112;27222887 False 2 0;0;0 1.152 False ENSG00000141404 ENSG00000141404 HGNC:4388 TAF1 gene TAF1 Emory Genetics Laboratory;Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders 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;(NB complex mutation) http://www.ncbi.nlm.nih.gov/books/NBK1155/;PMID: 2368812;PMID: 12928496;PMID: 17273961;PMID: 26879577;PMID: 26769797;PMID: 26637982;PMID: 23184149 False 2 100;0;0 1.152 False ENSG00000147133 ENSG00000147133 HGNC:11535 VPS11 gene VPS11 Expert Review Amber;Literature Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Dystonia 32, OMIM:619637;dystonia 32, MONDO:0030486 33452836;27120463;27473128;33871597 False 2 50;50;0 1.152 False ENSG00000160695 ENSG00000160695 HGNC:14583 ATXN2_CAG str ATXN2 Expert Review Green;NHS GMS;Expert Review Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 2, OMIM:183090;{Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 False 3 100;0;0 1.152 True ENSG00000204842 ENSG00000204842 HGNC:10555 12 112036755 112036823 111598951 111599019 CAG 32 35 ATXN3_CAG str ATXN3 Expert Review Green;NHS GMS;Expert Review Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Machado-Joseph disease, OMIM:109150 False 3 100;0;0 1.152 True ENSG00000066427 ENSG00000066427 HGNC:7106 14 92537355 92537396 92071011 92071052 CAG 45 60 JPH3_CTG str JPH3 Expert Review Green;NHS GMS;Expert Review Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Huntington disease-like 2, OMIM:606438 False 3 100;0;0 1.152 True ENSG00000154118 ENSG00000154118 HGNC:14203 16 87637894 87637932 87604288 87604326 CTG 29 40