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;Victorian Clinical Genetics Services Brain Channelopathies 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 22782511;24700542;33051786;32647899;33704598;34631954;28971144;30975617 False 3 100;0;0 1.3 True ENSG00000173175 ENSG00000173175 HGNC:236 ATP1A2 gene ATP1A2 Expert Review Green;Victorian Clinical Genetics Services Brain Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alternating hemiplegia of childhood 1, MIM# 104290 15174025;15286158;33126486;31766058;24097848 False 3 100;0;0 1.3 True ENSG00000018625 ENSG00000018625 HGNC:800 ATP1A3 gene ATP1A3 Expert Review Green;Victorian Clinical Genetics Services Brain Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alternating hemiplegia of childhood 2, MIM# 614820;CAPOS syndrome, MIM# 601338;Dystonia-12, MIM# 128235 15260953;22842232;24468074 False 3 100;0;0 1.3 True ENSG00000105409 ENSG00000105409 HGNC:801 ATP7B gene ATP7B Expert Review Green;Victorian Clinical Genetics Services Brain Channelopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Wilson disease, MIM# 277900 False 3 100;0;0 1.3 True ENSG00000123191 ENSG00000123191 HGNC:870 CACNA1A gene CACNA1A Expert list;Expert Review Green;Victorian Clinical Genetics Services Brain Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 2 MIM#108500 False 3 100;0;0 1.3 True ENSG00000141837 ENSG00000141837 HGNC:1388 GLRA1 gene GLRA1 Expert Review Green;Victorian Clinical Genetics Services Brain Channelopathies Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 1, MIM# 149400 8298642;16832093 False 3 100;0;0 1.3 True ENSG00000145888 ENSG00000145888 HGNC:4326 GLRB gene GLRB Expert Review Green;Victorian Clinical Genetics Services Brain Channelopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 2, MIM# 614619 21391991;11929858;27843043 False 3 100;0;0 1.3 True ENSG00000109738 ENSG00000109738 HGNC:4329 KCNA1 gene KCNA1 Expert Review Green;Victorian Clinical Genetics Services Brain Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia/myokymia syndrome, MIM# 160120 11026449 False 3 100;0;0 1.3 True Other ENSG00000111262 ENSG00000111262 HGNC:6218 KCNJ2 gene KCNJ2 Expert Review Green;Victorian Clinical Genetics Services Brain Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Andersen syndrome, MIM# 170390 16217063;16571646;16419128;17324964 False 3 100;0;0 1.3 True ENSG00000123700 ENSG00000123700 HGNC:6263 KCNMA1 gene KCNMA1 Expert Review Green;Victorian Clinical Genetics Services Brain Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446 15937479;26195193 False 3 100;0;0 1.3 True ENSG00000156113 ENSG00000156113 HGNC:6284 KCNQ2 gene KCNQ2 Expert Review Green;Victorian Clinical Genetics Services Brain Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myokymia, MIM# 121200;Seizures, benign neonatal, 1, MIM# 121200;Developmental and epileptic encephalopathy 7, MIM# 613720 False 3 100;0;0 1.3 True ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ3 gene KCNQ3 Expert Review Green;Victorian Clinical Genetics Services Brain Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Seizures, benign neonatal, 2, MIM# 121201 33337327 False 3 100;0;0 1.3 False ENSG00000184156 ENSG00000184156 HGNC:6297 PNKD gene PNKD Expert Review Green;Victorian Clinical Genetics Services Brain Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800 15496428 False 3 100;0;0 1.3 True ENSG00000127838 ENSG00000127838 HGNC:9153 PRRT2 gene PRRT2 Expert Review Green;Victorian Clinical Genetics Services Brain Channelopathies 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 33126500 False 3 100;0;0 1.3 True ENSG00000167371 ENSG00000167371 HGNC:30500 SCN1A gene SCN1A Expert Review Green;Victorian Clinical Genetics Services Brain Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dravet syndrome 607208;Epilepsy, generalized, with febrile seizures plus, type 2 604403;Febrile seizures, familial, 3A 604403;Migraine, familial hemiplegic, 3 609634 False 3 100;0;0 1.3 True ENSG00000144285 ENSG00000144285 HGNC:10585 SCN8A gene SCN8A Expert Review Green;Victorian Clinical Genetics Services Brain Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myoclonus, familial, 2, MIM# 618364;epilepsy;paroxysmal kinesigenic dyskinesias 29726066;27098556 False 3 100;0;0 1.3 True ENSG00000196876 ENSG00000196876 HGNC:10596 SLC1A3 gene SLC1A3 Expert list;Expert Review Green;Victorian Clinical Genetics Services Brain Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 6 MIM#612656 16116111;23107647;19139306;29741614;25497598;29208948;29062094 False 3 100;0;0 1.3 True ENSG00000079215 ENSG00000079215 HGNC:10941 SLC2A1 gene SLC2A1 Expert Review Green;Victorian Clinical Genetics Services Brain Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted GLUT1-deficiency syndrome, MONDO:0000188;Dystonia 9 601042;GLUT1 deficiency syndrome 1, infantile onset, severe 606777;GLUT1 deficiency syndrome 2, childhood onset 612126;Stomatin-deficient cryohydrocytosis with neurologic defects 608885 32913944 False 3 100;0;0 1.3 True ENSG00000117394 ENSG00000117394 HGNC:11005 SLC6A5 gene SLC6A5 Expert Review Green;Victorian Clinical Genetics Services Brain Channelopathies Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 3, MIM# 614618 31604777;30847549;29859229;16751771 False 3 100;0;0 1.3 True ENSG00000165970 ENSG00000165970 HGNC:11051 SPR gene SPR Expert Review Green;Victorian Clinical Genetics Services Brain Channelopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 22522443;16650784;21431957;28189489 False 3 100;0;0 1.3 True ENSG00000116096 ENSG00000116096 HGNC:11257 CACNB4 gene CACNB4 Expert list;Expert Review Amber;Expert Review Red;Victorian Clinical Genetics Services Brain Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 5, MIM#613855 10762541;9628818;27003325 False 2 0;50;50 1.3 True ENSG00000182389 ENSG00000182389 HGNC:1404