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 AP1S2 gene AP1S2 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000182287 ENSG00000182287 HGNC:560 ARSA gene ARSA Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000100299 ENSG00000100299 HGNC:713 ATP1A2 gene ATP1A2 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia;migraine False 1 0;0;0 1.152 False ENSG00000018625 ENSG00000018625 HGNC:800 AUH gene AUH Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000148090 ENSG00000148090 HGNC:890 CACNA1A gene CACNA1A Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 2, OMIM:108500 False 1 0;0;0 1.152 False ENSG00000141837 ENSG00000141837 HGNC:1388 CYP27A1 gene CYP27A1 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 100;0;0 1.152 False ENSG00000135929 ENSG00000135929 HGNC:2605 DCTN1 gene DCTN1 Expert list;Expert Review Red Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, distal hereditary motor, type VIIB False 1 0;0;0 1.152 False ENSG00000204843 ENSG00000204843 HGNC:2711 DRD2 gene DRD2 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia, myoclonic, 159900 http://www.ncbi.nlm.nih.gov/books/NBK1414/ False 1 0;0;0 1.152 False ENSG00000149295 ENSG00000149295 HGNC:3023 DRD5 gene DRD5 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders {Blepharospasm, primary benign}, 606798 PMID: 17133500 False 1 0;0;0 1.152 False ENSG00000169676 ENSG00000169676 HGNC:3026 EARS2 gene EARS2 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000103356 ENSG00000103356 HGNC:29419 ERCC6 gene ERCC6 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000225830 ENSG00000225830 HGNC:3438 FASTKD2 gene FASTKD2 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 44, OMIM:618855;Dystonia False 1 0;0;0 1.152 False ENSG00000118246 ENSG00000118246 HGNC:29160 FOXRED1 gene FOXRED1 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000110074 ENSG00000110074 HGNC:26927 GAMT gene GAMT Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 100;0;0 1.152 False ENSG00000130005 ENSG00000130005 HGNC:4136 GCDH gene GCDH Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 100;0;0 1.152 False ENSG00000105607 ENSG00000105607 HGNC:4189 KCNQ2 gene KCNQ2 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000075043 ENSG00000075043 HGNC:6296 L2HGDH gene L2HGDH Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000087299 ENSG00000087299 HGNC:20499 MAT1A gene MAT1A Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000151224 ENSG00000151224 HGNC:6903 MCOLN1 gene MCOLN1 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000090674 ENSG00000090674 HGNC:13356 MMADHC gene MMADHC Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000168288 ENSG00000168288 HGNC:25221 MPV17 gene MPV17 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000115204 ENSG00000115204 HGNC:7224 MR1 gene MR1 Emory Genetics Laboratory;Expert Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia;Paroxysmal/Episodic dystonia False 1 0;0;0 1.152 False ENSG00000153029 ENSG00000153029 HGNC:4975 MT-ND6 gene MT-ND6 UKGTN Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MITOCHONDRIAL Leber Optic Atrophy And Dystonia False 1 0;0;0 1.152 False ENSG00000198695 ENSG00000198695 HGNC:7462 NPC2 gene NPC2 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000119655 ENSG00000119655 HGNC:14537 PARK7 gene PARK7 Expert Review;Expert Review Red Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 7, autosomal recessive early-onset False 1 0;0;0 1.152 False ENSG00000116288 ENSG00000116288 HGNC:16369 PCDH12 gene PCDH12 Expert Review Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal intellectual disability;microcephaly;epilepsy;perithalamic hyperechogenicity;periventricular hyperechogenicity;midbrain abnormalities;hypothalamic abnormalities 27164683 False 1 0;0;100 1.152 False ENSG00000113555 ENSG00000113555 HGNC:8657 PDGFRB gene PDGFRB Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000113721 ENSG00000113721 HGNC:8804 PDHX gene PDHX Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000110435 ENSG00000110435 HGNC:21350 PLP1 gene PLP1 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000123560 ENSG00000123560 HGNC:9086 PNPT1 gene PNPT1 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000138035 ENSG00000138035 HGNC:23166 PSEN1 gene PSEN1 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000080815 ENSG00000080815 HGNC:9508 PTEN gene PTEN Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTS gene PTS Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000150787 ENSG00000150787 HGNC:9689 QDPR gene QDPR Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000151552 ENSG00000151552 HGNC:9752 RNASEH2A gene RNASEH2A Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Aicardi-Goutieres syndrome 2, OMIM:61018 False 1 0;0;0 1.152 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000172922 ENSG00000172922 HGNC:24116 SAMHD1 gene SAMHD1 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000101347 ENSG00000101347 HGNC:15925 SCP2 gene SCP2 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Leukoencephalopathy with dystonia and motor neuropathy, 613724 PMID: 16685654 False 1 0;0;0 1.152 False ENSG00000116171 ENSG00000116171 HGNC:10606 SDHAF1 gene SDHAF1 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000205138 ENSG00000205138 HGNC:33867 SLC19A3 gene SLC19A3 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC20A2 gene SLC20A2 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000168575 ENSG00000168575 HGNC:10947 SLC39A14 gene SLC39A14 Expert Review Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Hypermanganesemia with dystonia 2 617013" False 1 100;0;0 1.152 False ENSG00000104635 ENSG00000104635 HGNC:20858 SLC46A1 gene SLC46A1 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000076351 ENSG00000076351 HGNC:30521 SUCLA2 gene SUCLA2 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUOX gene SUOX Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000139531 ENSG00000139531 HGNC:11460 TIMM8A gene TIMM8A Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Deafness-Dystonia-Optic Neuronopathy Syndrome False 1 0;0;0 1.152 False ENSG00000126953 ENSG00000126953 HGNC:11817 TPK1 gene TPK1 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000196511 ENSG00000196511 HGNC:17358 TREM2 gene TREM2 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000095970 ENSG00000095970 HGNC:17761 TREX1 gene TREX1 Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000213689 ENSG00000213689 HGNC:12269 VPS37A gene VPS37A Emory Genetics Laboratory Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Dystonia False 1 0;0;0 1.152 False ENSG00000155975 ENSG00000155975 HGNC:24928 XK gene XK Expert Review Red;Literature Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females McLeod syndrome with or without chronic granulomatous disease,OMIM:300842 11761473;8004674;11032622;11261514;33652783;30128557 False 1 50;0;50 1.152 False ENSG00000047597 ENSG00000047597 HGNC:12811 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 ATXN10_ATTCT str ATXN10 Expert Review Red;NHS GMS;Expert Review Early onset dystonia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 10, OMIM:603516 False 1 0;0;100 1.152 True ENSG00000130638 ENSG00000130638 HGNC:10549 22 46191235 46191304 45795355 45795424 ATTCT 33 800