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 Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia 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 Paroxysmal dyskinesia;HP:0007166 22782511;24700542;33051786;32647899;33704598;34631954;28971144;30975617 False 3 100;0;0 0.141 True ENSG00000173175 ENSG00000173175 HGNC:236 ALDH5A1 gene ALDH5A1 Expert Review Green;Literature Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Paroxysmal dyskinesia;HP:0007166 17438226;38499966 False 3 100;0;0 0.141 True ENSG00000112294 ENSG00000112294 HGNC:408 ATAD1 gene ATAD1 Expert list;Expert Review Green Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 4, MIM#618011 Paroxysmal dyskinesia;HP:0007166 28180185;29390050;29659736 False 3 100;0;0 0.141 True ENSG00000138138 ENSG00000138138 HGNC:25903 ATP1A2 gene ATP1A2 Expert Review Green;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders Unknown Paroxysmal dyskinesia;HP:0007166 False 3 0;0;0 0.141 False ENSG00000018625 ENSG00000018625 HGNC:800 ATP1A3 gene ATP1A3 Expert Review Green;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders Unknown Paroxysmal dyskinesia;HP:0007166 False 3 0;0;0 0.141 False ENSG00000105409 ENSG00000105409 HGNC:801 CACNA1A gene CACNA1A Expert Review Green;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders Unknown Paroxysmal dyskinesia;HP:0007166 False 3 0;0;0 0.141 False ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1S gene CACNA1S Expert Review Green;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypokalemic periodic paralysis, type 1, MIM# 170400 Paroxysmal dyskinesia;HP:0007166 11591859 False 3 100;0;0 0.141 True ENSG00000081248 ENSG00000081248 HGNC:1397 CASR gene CASR Expert Review Green;Literature Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hypocalciuric hypercalcemia, type I, MIM# 145980;Hypocalciuric Hypercalcemic;Hyperparathyroidism;paroxysmal dyskinesia;brain calcification" Paroxysmal dyskinesia;HP:0007166 34913197 False 3 100;0;0 0.141 True ENSG00000036828 ENSG00000036828 HGNC:1514 CLCN1 gene CLCN1 Expert Review;Expert Review Green Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Myotonia congenita, dominant, MIM# 160800;Myotonia congenita, recessive, MIM# 255700" Paroxysmal dyskinesia;HP:0007166 False 3 100;0;0 0.141 True ENSG00000188037 ENSG00000188037 HGNC:2019 CLDN5 gene CLDN5 Expert Review Green;Literature Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic disorder, MONDO:0002254, CLDN5-related;familial migraine;alternating hemiplegia;hemiplegic migraine;brain calcification;acquired microcephaly;epilepsy Paroxysmal dyskinesia;HP:0007166 35714222;36825455 False 3 100;0;0 0.141 True ENSG00000184113 ENSG00000184113 HGNC:2047 DLAT gene DLAT Expert Review Green;Literature Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase E2 deficiency, MIM# 245348;Episodic dystonia (Exercise induced or without clear trigger) Paroxysmal dyskinesia;HP:0007166 20022530;29093066 False 3 100;0;0 0.141 True ENSG00000150768 ENSG00000150768 HGNC:2896 ECHS1 gene ECHS1 Expert Review Green;Literature Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277;paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease) Paroxysmal dyskinesia;HP:0007166 27090768;28039521 False 3 100;0;0 0.141 True ENSG00000127884 ENSG00000127884 HGNC:3151 GABRB3 gene GABRB3 Expert Review Green;Literature Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 43 MIM#617113 Paroxysmal dyskinesia;HP:0007166 37647766 False 3 100;0;0 0.141 True Other ENSG00000166206 ENSG00000166206 HGNC:4083 GCH1 gene GCH1 Expert Review Green;Literature Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Dopa-responsive dystonia;exercise-induced dystonia;Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230" Paroxysmal dyskinesia;HP:0007166 False 3 100;0;0 0.141 True ENSG00000131979 ENSG00000131979 HGNC:4193 GLRA1 gene GLRA1 Expert Review Green;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 1, MIM# 149400 Paroxysmal dyskinesia;HP:0007166 8298642;16832093 False 3 100;0;0 0.141 True ENSG00000145888 ENSG00000145888 HGNC:4326 GLRB gene GLRB Expert Review Green;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 2, MIM# 614619 Paroxysmal dyskinesia;HP:0007166 21391991;11929858;27843043 False 3 100;0;0 0.141 True ENSG00000109738 ENSG00000109738 HGNC:4329 GNAO1 gene GNAO1 Expert Review Green;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 17;Neurodevelopmental disorder with involuntary movements Paroxysmal dyskinesia;HP:0007166 28747448;30682224 False 3 100;0;0 0.141 True Other ENSG00000087258 ENSG00000087258 HGNC:4389 HIBCH gene HIBCH Expert list;Expert Review Green Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620;Paroxysmal dyskinesia (exercise induced or without clear trigger;isolated or with additional features;mitochondrial disorder (Leigh syndrome);neurodevelopmental disability;epilepsy. Paroxysmal dyskinesia;HP:0007166 PMID 31679561 False 3 100;0;0 0.141 True ENSG00000198130 ENSG00000198130 HGNC:4908 KCNA1 gene KCNA1 Expert Review Green;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders Unknown Paroxysmal dyskinesia;HP:0007166 False 3 0;0;0 0.141 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNA2 gene KCNA2 Expert Review Green;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia;Epileptic encephalopathy, early infantile, 32, MIM# 616366 Paroxysmal dyskinesia;HP:0007166 27733563;27543892;25477152 False 3 100;0;0 0.141 True ENSG00000177301 ENSG00000177301 HGNC:6220 KCNJ10 gene KCNJ10 Expert Review Green;Literature Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Paroxysmal dyskinesia, MONDO:0015427, KCNJ10-related Paroxysmal dyskinesia;HP:0007166 38979912;38436103 False 3 100;0;0 0.141 True ENSG00000177807 ENSG00000177807 HGNC:6256 KCNJ2 gene KCNJ2 Expert Review Green;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders Unknown Paroxysmal dyskinesia;HP:0007166 False 3 0;0;0 0.141 False ENSG00000123700 ENSG00000123700 HGNC:6263 KCNMA1 gene KCNMA1 Expert Review Green;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446 Paroxysmal dyskinesia;HP:0007166 15937479;26195193 False 3 100;0;0 0.141 True ENSG00000156113 ENSG00000156113 HGNC:6284 KCNQ2 gene KCNQ2 Expert Review Green;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders Unknown Paroxysmal dyskinesia;HP:0007166 False 3 0;0;0 0.141 False ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ3 gene KCNQ3 Expert Review Green;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Seizures, benign neonatal, 2, MIM# 121201 Paroxysmal dyskinesia;HP:0007166 33337327;25524373;24851285 False 3 100;0;0 0.141 True ENSG00000184156 ENSG00000184156 HGNC:6297 KIAA1161 gene KIAA1161 Expert Review Green;Literature Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM #618317;paroxysmal dyskinesia;brain calcification;episodic hemiparesis Paroxysmal dyskinesia;HP:0007166 34346093;34783389;32303062 False 3 100;0;0 0.141 True ENSG00000164976 ENSG00000164976 HGNC:19918 PDE2A gene PDE2A Expert Review Green;Literature Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Paroxysmal dyskinesia;Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150 Paroxysmal dyskinesia;HP:0007166 32467598;32196122;29392776;37317634 False 3 100;0;0 0.141 True ENSG00000186642 ENSG00000186642 HGNC:8777 PDGFB gene PDGFB Expert list;Expert Review Green Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 5, MIM# 615483;Paroxysmal nonkinesigenic dyskinesia;paroxysmal kinesigenic dyskinesia;Brain calcification Paroxysmal dyskinesia;HP:0007166 28556368;32443735;23913003 False 3 100;0;0 0.141 True ENSG00000100311 ENSG00000100311 HGNC:8800 PDHA1 gene PDHA1 Expert Review;Expert Review Green Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders Other Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170;Paroxysmal dyskinesia (exercise induced or without clear trigger Paroxysmal dyskinesia;HP:0007166 20002125;22079328 False 3 100;0;0 0.141 True ENSG00000131828 ENSG00000131828 HGNC:8806 PDHX gene PDHX Expert Review Green;Literature Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lactic acidemia due to PDX1 deficiency, MIM# 245349;episodic dystonia;Paroxysmal dyskinesia (exercise induced or without clear trigger;isolated or with additional features) Paroxysmal dyskinesia;HP:0007166 16566017;20002125 False 3 100;0;0 0.141 True ENSG00000110435 ENSG00000110435 HGNC:21350 PNKD gene PNKD Expert Review Green;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800 Paroxysmal dyskinesia;HP:0007166 False 3 100;0;0 0.141 True ENSG00000127838 ENSG00000127838 HGNC:9153 PRRT2 gene PRRT2 Expert Review Green;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Convulsions, familial infantile, with paroxysmal choreoathetosis 602066;Episodic kinesigenic dyskinesia 1 128200;Seizures, benign familial infantile, 2 605751 Paroxysmal dyskinesia;HP:0007166 33126500 False 3 100;0;0 0.141 True ENSG00000167371 ENSG00000167371 HGNC:30500 RHOBTB2 gene RHOBTB2 Expert Review Green;Other Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epileptic encephalopathy, early infantile, 64, MIM# 618004;Paroxysmal movement disorder" Paroxysmal dyskinesia;HP:0007166 PMID 29276004 False 3 100;0;0 0.141 True ENSG00000008853 ENSG00000008853 HGNC:18756 SCN1A gene SCN1A Expert Review Green;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders Unknown Paroxysmal dyskinesia;HP:0007166 False 3 0;0;0 0.141 False ENSG00000144285 ENSG00000144285 HGNC:10585 SCN2A gene SCN2A Expert Review Green;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders Unknown Paroxysmal dyskinesia;HP:0007166 False 3 0;0;0 0.141 False ENSG00000136531 ENSG00000136531 HGNC:10588 SCN4A gene SCN4A Expert Review Green;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders Unknown Paroxysmal dyskinesia;HP:0007166 False 3 0;0;0 0.141 False ENSG00000007314 ENSG00000007314 HGNC:10591 SCN8A gene SCN8A Expert Review Green;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Complex neurodevelopmental disorder MONDO:0100038 Paroxysmal dyskinesia;HP:0007166 26677014;29356177;25799905 False 3 100;0;0 0.141 True ENSG00000196876 ENSG00000196876 HGNC:10596 SLC16A2 gene SLC16A2 Expert list;Expert Review Green Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Allan-Herndon-Dudley syndrome, MIM# 300523;paroxysmal dyskinesia (passive movement trigger);neurodevelopmental disability, hypotonia Paroxysmal dyskinesia;HP:0007166 15980113;31410843;20301789 False 3 100;0;0 0.141 True ENSG00000147100 ENSG00000147100 HGNC:10923 SLC1A3 gene SLC1A3 Expert Review Green;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 6, MIM# 612656 Paroxysmal dyskinesia;HP:0007166 19139306;16116111;29208948;27829685 False 3 100;0;0 0.141 True ENSG00000079215 ENSG00000079215 HGNC:10941 SLC2A1 gene SLC2A1 Expert Review Green;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted GLUT1 deficiency syndrome MONDO:0000188 Paroxysmal dyskinesia;HP:0007166 18451999;34279792;18577546;34305802;27098784 False 3 100;0;0 0.141 True ENSG00000117394 ENSG00000117394 HGNC:11005 SLC6A5 gene SLC6A5 Expert Review Green;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 3, MIM# 614618 Paroxysmal dyskinesia;HP:0007166 31604777;30847549;29859229;16751771 False 3 100;0;0 0.141 True ENSG00000165970 ENSG00000165970 HGNC:11051 TBC1D24 gene TBC1D24 Expert list;Expert Review Green Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, MIM# 608105;Episodic dystonia (Exercise induced or without clear trigger);epilepsy;myoclonus;hearing loss Paroxysmal dyskinesia;HP:0007166 PMID 31257402;PMID 31226716;PMID 25719194 False 3 100;0;0 0.141 True ENSG00000162065 ENSG00000162065 HGNC:29203 TMEM151A gene TMEM151A Expert Review Green;Literature Paroxysmal Dyskinesia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paroxysmal Kinesigenic Dyskinesia;episodic kinesigenic dyskinesia MONDO:0044202 Paroxysmal dyskinesia;HP:0007166 34820915;34518509 False 3 100;0;0 0.141 False ENSG00000179292 ENSG00000179292 HGNC:28497