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 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 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