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 Amber;Literature Dystonia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GABA-transaminase deficiency, MIM# 613163;intellectual disability;autism;DEE;epilepsy;paroxysmal dyskinesia Dystonia;HP:0001332 30617166 False 2 0;100;0 1.183 True ENSG00000183044 ENSG00000183044 HGNC:23 AFG3L2 gene AFG3L2 Expert Review Amber;Expert list Dystonia_Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic ataxia 5, autosomal recessive MIM#614487;Early-onset dystonia Dystonia;HP:0001332 22964162;16541453;32219868;36110148 False 2 33;0;67 1.183 True ENSG00000141385 ENSG00000141385 HGNC:315 ALK gene ALK Expert Review Amber;Literature Dystonia_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic-dystonic diplegia Dystonia;HP:0001332 PMID: 32989326 False 2 0;100;0 1.183 True ENSG00000171094 ENSG00000171094 HGNC:427 ATP5B gene ATP5B Expert Review Amber;Literature Dystonia_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited dystonia, MONDO:0044807, ATP5B-related Dystonia;HP:0001332 36860166 False 2 50;50;0 1.183 True ENSG00000110955 ENSG00000110955 HGNC:830 ATP7B gene ATP7B Expert Review Amber;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Dystonia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Wilson disease, MIM# 277900 Dystonia;HP:0001332 32662046 False 2 0;100;0 1.183 True ENSG00000123191 ENSG00000123191 HGNC:870 CACNB4 gene CACNB4 Expert Review Amber;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Dystonia_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 5, MIM#613855 Dystonia;HP:0001332 10762541;9628818;27003325 False 2 0;100;0 1.183 True ENSG00000182389 ENSG00000182389 HGNC:1404 CHD8 gene CHD8 Expert Review Amber;Literature Dystonia_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, CHD8-related, MIM#615032;Dystonia Dystonia;HP:0001332 34415117 False 2 0;100;0 1.183 True ENSG00000100888 ENSG00000100888 HGNC:20153 CIZ1 gene CIZ1 Expert Review Amber;Royal Melbourne Hospital Dystonia_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 23, 614860 Dystonia;HP:0001332 27163549;29154038;22447717 False 2 0;100;0 1.183 True ENSG00000148337 ENSG00000148337 HGNC:16744 COL6A3 gene COL6A3 Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Dystonia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 27, MIM#616411 Dystonia;HP:0001332 26004199;32037012;26872670;32037012 False 2 50;50;0 1.183 True ENSG00000163359 ENSG00000163359 HGNC:2213 FBXL4 gene FBXL4 Expert Review Amber;Expert list Dystonia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 Dystonia;HP:0001332 False 2 0;100;0 1.183 True ENSG00000112234 ENSG00000112234 HGNC:13601 GSX2 gene GSX2 Expert Review Amber;Literature Dystonia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Diencephalic-mesencephalic junction dysplasia syndrome 2 618646;Intellectual disability;Dystonia;Spastic tetra paresis" Dystonia;HP:0001332 31412107 False 2 0;100;0 1.183 True ENSG00000180613 ENSG00000180613 HGNC:24959 HACE1 gene HACE1 Expert Review Amber;Expert list Dystonia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756 Dystonia;HP:0001332 26424145;26437029 False 2 0;100;0 1.183 True ENSG00000085382 ENSG00000085382 HGNC:21033 JPH3 gene JPH3 Expert Review Amber;Literature Dystonia_Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal paroxysmal dystonia, intellectual disability Dystonia;HP:0001332 PMID: 36273396 False 2 50;50;0 1.183 True ENSG00000154118 ENSG00000154118 HGNC:14203 KCNQ2 gene KCNQ2 Expert Review Amber;Expert list Dystonia_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 7 MIM#613720 Dystonia;HP:0001332 12742592;32585800 False 2 0;100;0 1.183 True ENSG00000075043 ENSG00000075043 HGNC:6296 KIF1C gene KIF1C Expert Review Amber;Expert list Dystonia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic ataxia 2, autosomal recessive, MIM# 611302" Dystonia;HP:0001332 31413903 False 2 0;100;0 1.183 True ENSG00000129250 ENSG00000129250 HGNC:6317 MAPT gene MAPT Expert Review Amber;Expert list Dystonia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dementia, frontotemporal, with or without parkinsonism MIM#600274 Dystonia;HP:0001332 17319286;15883319 False 2 0;100;0 1.183 True ENSG00000186868 ENSG00000186868 HGNC:6893 NBEA gene NBEA Expert Review Amber;Literature Dystonia_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157;Paroxysmal Kinesigenic Dyskinesia;DEE;autism;intellectual disability Dystonia;HP:0001332 33692494 False 2 0;100;0 1.183 True ENSG00000172915 ENSG00000172915 HGNC:7648 NUP54 gene NUP54 Expert Review Amber;Literature Dystonia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 37, early-onset, with striatal lesions, MIM# 620427;Early onset dystonia;progressive neurological deterioration;ataxia;dysarthria;dysphagia;hypotonia Dystonia;HP:0001332 36333996 False 2 0;100;0 1.183 True ENSG00000138750 ENSG00000138750 HGNC:17359 PRKN gene PRKN Expert Review Amber;Literature Dystonia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease, juvenile, type 2 MIM#600116;paroxysmal exercise induced dyskinesia;fasting induced dyskinesia;early onset parkinsonism Dystonia;HP:0001332 37205242 False 2 0;100;0 1.183 True ENSG00000185345 ENSG00000185345 HGNC:8607 SAMHD1 gene SAMHD1 Expert Review Amber;Expert list Dystonia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5 MIM#612952 Dystonia;HP:0001332 20131292 False 2 0;100;0 1.183 True ENSG00000101347 ENSG00000101347 HGNC:15925 SHQ1 gene SHQ1 Expert Review Amber;Literature Dystonia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with dystonia and seizures, MIM# 619922 Dystonia;HP:0001332 36847845 False 2 50;50;0 1.183 True ENSG00000144736 ENSG00000144736 HGNC:25543 SPR gene SPR Expert Review Amber;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Dystonia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994 Dystonia;HP:0001332 32591469 False 2 0;100;0 1.183 True ENSG00000116096 ENSG00000116096 HGNC:11257 VAMP1 gene VAMP1 Expert Review Amber;Expert list Dystonia_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spastic ataxia 1, autosomal dominant, MIM# 108600" Dystonia;HP:0001332 22958904 False 2 0;100;0 1.183 True ENSG00000139190 ENSG00000139190 HGNC:12642 XPR1 gene XPR1 Expert Review Amber;Literature Dystonia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 6, MIM# 616413;brain calcification;basal ganglia calcification;paroxysmal dyskinesia;epilepsy;DEE Dystonia;HP:0001332 33433330 False 2 0;100;0 1.183 True ENSG00000143324 ENSG00000143324 HGNC:12827