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 ADCY5 gene ADCY5 Expert Review Green;Royal Melbourne Hospital Dystonia - isolated/combined Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskinesia, familial, with facial myokymia, MIM# 606703;MONDO:0011707;Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647;Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651 Dystonia;HP:0001332 22782511;24700542;33051786;32647899;33704598;34631954;28971144;30975617 False 3 100;0;0 1.37 True ENSG00000173175 ENSG00000173175 HGNC:236 ANO3 gene ANO3 Expert Review Green;Royal Melbourne Hospital Dystonia - isolated/combined Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 24, 615034;familial form of cranio-cervical dystonia Dystonia;HP:0001332 33388357 False 3 100;0;0 1.37 True ENSG00000134343 ENSG00000134343 HGNC:14004 ARFGEF3 gene ARFGEF3 Expert Review Green;Literature Dystonia - isolated/combined Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia, MONDO:0044807, ARFGEF3-related Dystonia;HP:0001332 PMID: 33098801 False 3 100;0;0 1.37 True ENSG00000112379 ENSG00000112379 HGNC:21213 ATP1A3 gene ATP1A3 Expert Review Green;Royal Melbourne Hospital Dystonia - isolated/combined Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia-12, MIM# 128235;Rapid dystonia-parkinsonism MONDO:0007496 Dystonia;HP:0001332 15260953;17282997;19351654 False 3 100;0;0 1.37 True ENSG00000105409 ENSG00000105409 HGNC:801 C9orf3 gene C9orf3 Expert Review Green;Literature Dystonia - isolated/combined Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Dystonia 31, MIM# 619565" Dystonia;HP:0001332 34596301 False 3 100;0;0 1.37 True ENSG00000148120 ENSG00000148120 HGNC:1361 ECHS1 gene ECHS1 Expert Review Green;Royal Melbourne Hospital Dystonia - isolated/combined Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 616277;Dystonia Dystonia;HP:0001332 32858208 False 3 100;0;0 1.37 True ENSG00000127884 ENSG00000127884 HGNC:3151 EIF2AK2 gene EIF2AK2 Expert Review;Expert Review Green Dystonia - isolated/combined Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dystonia 33, MIM# 619687 Dystonia;HP:0001332 PMID: 35146068;PMID: 33236446;PMID: 33866603 False 3 100;0;0 1.37 True ENSG00000055332 ENSG00000055332 HGNC:9437 GABRB3 gene GABRB3 Expert Review Green;Literature Dystonia - isolated/combined Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 43 MIM#617113 Dystonia;HP:0001332 37647766 False 3 100;0;0 1.37 True Other ENSG00000166206 ENSG00000166206 HGNC:4083 GCH1 gene GCH1 Expert Review Green;Royal Melbourne Hospital Dystonia - isolated/combined Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 Dystonia;HP:0001332 7874165;11113234;15753436 False 3 100;0;0 1.37 True ENSG00000131979 ENSG00000131979 HGNC:4193 GNAL gene GNAL Expert Review Green;Royal Melbourne Hospital Dystonia - isolated/combined Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 25, MIM# 615073;MONDO:0014033 Dystonia;HP:0001332 23222958;33175450;32180288 False 3 100;0;0 1.37 True ENSG00000141404 ENSG00000141404 HGNC:4388 HPCA gene HPCA Expert Review Green;Royal Melbourne Hospital Dystonia - isolated/combined Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 2, torsion, autosomal recessive, 224500;MONDO:0009141;childhood-onset generalized dystonia;adolescence-onset segmental dystonia;generalized dystonia with additional neurological features Dystonia;HP:0001332 25799108;30991467;30145809 False 3 100;0;0 1.37 True ENSG00000121905 ENSG00000121905 HGNC:5144 KCNMA1 gene KCNMA1 Expert list;Expert Review Green Dystonia - isolated/combined Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy MIM#609446 Dystonia;HP:0001332 26195193;15937479;29356177 False 3 100;0;0 1.37 True Other ENSG00000156113 ENSG00000156113 HGNC:6284 KCNN2 gene KCNN2 Expert Review Green;Literature Dystonia - isolated/combined Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 34, myoclonic, MIM#619724;Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725 Dystonia;HP:0001332 32212350;33242881 False 3 100;0;0 1.37 True ENSG00000080709 ENSG00000080709 HGNC:6291 KCTD17 gene KCTD17 Expert Review Green;Royal Melbourne Hospital Dystonia - isolated/combined Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 26, myoclonic MIM#616398 Dystonia;HP:0001332 25983243;30642807;30579817 False 3 100;0;0 1.37 True ENSG00000100379 ENSG00000100379 HGNC:25705 KMT2B gene KMT2B Expert Review Green;Royal Melbourne Hospital Dystonia - isolated/combined Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted early-onset dystonia;Dystonia 28, childhood-onset 617284;MONDO:0015004 Dystonia;HP:0001332 27839873;27992417 False 3 100;0;0 1.37 True ENSG00000272333 ENSG00000272333 HGNC:15840 MECR gene MECR Expert Review Green;Royal Melbourne Hospital Dystonia - isolated/combined Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282;MONDO:0015003 Dystonia;HP:0001332 27817865;33401012;31137067;31070877 False 3 100;0;0 1.37 True ENSG00000116353 ENSG00000116353 HGNC:19691 NIT1 gene NIT1 Expert Review Green;Literature Dystonia - isolated/combined Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebrovascular disorder, NIT1-related (MONDO:0011057) Dystonia;HP:0001332 38430071 False 3 100;0;0 1.37 True ENSG00000158793 ENSG00000158793 HGNC:7828 PARK7 gene PARK7 Expert list;Expert Review Green Dystonia - isolated/combined Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Parkinson disease 7, autosomal recessive early-onset MIM#606324" Dystonia;HP:0001332 29644727 False 3 100;0;0 1.37 True ENSG00000116288 ENSG00000116288 HGNC:16369 PDE10A gene PDE10A Expert list;Expert Review Green Dystonia - isolated/combined Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Early onset chorea without epilepsy;infantile onset limb and orofacial dyskinesia (OMIM 616921) Dystonia;HP:0001332 PMID 27058447 False 3 100;0;0 1.37 True ENSG00000112541 ENSG00000112541 HGNC:8772 PNKD gene PNKD Expert Review Green;Royal Melbourne Hospital Dystonia - isolated/combined Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800;MONDO:0007326 Dystonia;HP:0001332 15262732;15496428;15824259;19124534;21487022 False 3 100;0;0 1.37 True ENSG00000127838 ENSG00000127838 HGNC:9153 PRKRA gene PRKRA Expert Review Green;Royal Melbourne Hospital Dystonia - isolated/combined Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 16, MIM# 612067;MONDO:0012789 Dystonia;HP:0001332 18243799;25142429;29279192 False 3 100;0;0 1.37 True ENSG00000180228 ENSG00000180228 HGNC:9438 PRRT2 gene PRRT2 Expert Review Green;Royal Melbourne Hospital Dystonia - isolated/combined Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic kinesigenic dyskinesia 1, MIM# 128200;MONDO:0007494 Dystonia;HP:0001332 22101681;22120146;22744660;22399141 False 3 100;0;0 1.37 True ENSG00000167371 ENSG00000167371 HGNC:30500 SGCE gene SGCE Expert Review Green;Royal Melbourne Hospital Dystonia - isolated/combined Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Dystonia-11, myoclonic, MIM# 159900;MONDO:0008044 Dystonia;HP:0001332 11528394;12821748;16227522 False 3 100;0;0 1.37 True ENSG00000127990 ENSG00000127990 HGNC:10808 SHQ1 gene SHQ1 Expert Review Green;Literature Dystonia - isolated/combined Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 35, childhood-onset , MIM# 619921 Dystonia;HP:0001332 34542157;37475611 False 3 100;0;0 1.37 True ENSG00000144736 ENSG00000144736 HGNC:25543 SLC2A1 gene SLC2A1 Expert Review Green;Royal Melbourne Hospital Dystonia - isolated/combined Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 9, MIM# 601042;MONDO:0010983 Dystonia;HP:0001332 False 3 100;0;0 1.37 True ENSG00000117394 ENSG00000117394 HGNC:11005 SPR gene SPR Expert Review Green;Royal Melbourne Hospital Dystonia - isolated/combined Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716;MONDO:0012994 Dystonia;HP:0001332 11443547;18502672;22522443;16532389;31777525;29147684;28189489 False 3 100;0;0 1.37 True ENSG00000116096 ENSG00000116096 HGNC:11257 TH gene TH Expert Review Green;Royal Melbourne Hospital Dystonia - isolated/combined Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Segawa syndrome, recessive, MIM# 605407;MONDO:0011551 Dystonia;HP:0001332 False 3 100;0;0 1.37 True ENSG00000180176 ENSG00000180176 HGNC:11782 THAP1 gene THAP1 Expert Review Green;Royal Melbourne Hospital Dystonia - isolated/combined Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Dystonia 6, torsion, 602629;Dystonia;MONDO:0011264 Dystonia;HP:0001332 21793105;22377579;36205328;21425335;20211909 False 3 100;0;0 1.37 True ENSG00000131931 ENSG00000131931 HGNC:20856 TOR1A gene TOR1A Expert Review Green;Royal Melbourne Hospital Dystonia - isolated/combined Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant or sporadic dystonia (DYT1);Early-Onset Primary Dystonia;Dystonia-1, torsion, 128100 Dystonia;HP:0001332 9288096;19955557;18477710;32243914;31583275;31347572 False 3 100;0;0 1.37 True ENSG00000136827 ENSG00000136827 HGNC:3098 TUBB4A gene TUBB4A Expert Review Green;Royal Melbourne Hospital Dystonia - isolated/combined Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hereditary whispering dysphonia;Dystonia 4, torsion, autosomal dominant, 128101;Dystonia Dystonia;HP:0001332 23424103;23595291;33084096;32943487 False 3 100;0;0 1.37 True ENSG00000104833 ENSG00000104833 HGNC:20774 VPS16 gene VPS16 Expert Review;Expert Review Green Dystonia - isolated/combined Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 30, MIM#619291 Dystonia;HP:0001332 33482438;33497487 False 3 100;0;0 1.37 True ENSG00000215305 ENSG00000215305 HGNC:14584 XDP str TAF1 Expert Review Green;Expert list Dystonia - isolated/combined Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Dystonia-Parkinsonism, X-linked MIM#314250 Dystonia;HP:0001332 17273961;29229810 False 3 100;0;0 1.37 True ENSG00000147133 ENSG00000147133 HGNC:11535 X 70672905 70672979 71453055 71453129 CCCTCT 13 30