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;Expert Review Green Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial dyskinesia 606703 24700542; 11310626 False 3 100;0;0 1.83 True ENSG00000173175 ENSG00000173175 HGNC:236 ATP1A2 gene ATP1A2 Expert Review Green;UKGTN Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "familial hemiplegic migraine type 2, 602481;familial basilar migraine 602481;alternating hemiplegia of childhood 104290" 12539047;12953268;18056581 False 3 100;0;0 1.83 True ENSG00000018625 ENSG00000018625 HGNC:800 ATP1A3 gene ATP1A3 Expert Review Green;UKGTN Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DYSTONIA 12, 128235;ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820 22842232;22850527 False 3 100;0;0 1.83 True ENSG00000105409 ENSG00000105409 HGNC:801 ATP7B gene ATP7B Expert Review;Expert Review Green Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Wilson disease 277900 20301685 False 3 100;0;0 1.83 True ENSG00000123191 ENSG00000123191 HGNC:870 CACNA1A gene CACNA1A Eligibility statement prior genetic testing;Expert Review Green;UKGTN Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 2, OMIM:108500;Migraine, familial hemiplegic, 1, OMIM:141500;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 17575281;21734179 False 3 50;0;50 1.83 True ENSG00000141837 ENSG00000141837 HGNC:1388 CACNB4 gene CACNB4 Expert Review Green;UKGTN Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPISODIC ATAXIA, TYPE 5; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 10762541 False 3 100;0;0 1.83 True ENSG00000182389 ENSG00000182389 HGNC:1404 GLRA1 gene GLRA1 Expert Review;Expert Review Green Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia, hereditary 1, 149400 20301437 False 3 100;0;0 1.83 True ENSG00000145888 ENSG00000145888 HGNC:4326 GLRB gene GLRB Expert Review;Expert Review Green Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 2, 614619 21391991; 11929858; 23238346 False 3 100;0;0 1.83 True ENSG00000109738 ENSG00000109738 HGNC:4329 KCNA1 gene KCNA1 Eligibility statement prior genetic testing;Expert Review Green;UKGTN Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPISODIC ATAXIA, TYPE 1;myokymia with periodic ataxia 17575281 False 3 100;0;0 1.83 True ENSG00000111262 ENSG00000111262 HGNC:6218 KCNJ2 gene KCNJ2 Expert list;Expert Review Green Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Andersen syndrome, OMIM:170390;Andersen-Tawil syndrome, MONDO:0008222;Episodic weakness;Periodic paralysis 16217063;16571646;16419128;17324964 False 3 100;0;0 1.83 False ENSG00000123700 ENSG00000123700 HGNC:6263 KCNMA1 gene KCNMA1 Expert list;Expert Review Green Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446;Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276 15937479;26195193 False 3 100;0;0 1.83 False ENSG00000156113 ENSG00000156113 HGNC:6284 KCNQ2 gene KCNQ2 Expert list;Expert Review Green Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myokymia, 121200 False 3 100;0;0 1.83 True ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ3 gene KCNQ3 Expert list;Expert Review Green Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Seizures, benign neonatal, type 2, 121201 False 3 100;0;0 1.83 True ENSG00000184156 ENSG00000184156 HGNC:6297 PNKD gene PNKD Expert Review Green;UKGTN Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 15262732;15496428;15824259 False 3 100;0;0 1.83 True ENSG00000127838 ENSG00000127838 HGNC:9153 PRRT2 gene PRRT2 Eligibility statement prior genetic testing;Expert Review Green;UKGTN Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS;EPISODIC KINESIGENIC DYSKINESIA 1;SEIZURES, BENIGN FAMILIAL INFANTILE, 2;episodic kinesigenic dyskinesia;dystonia and occasionally hemiplegic migraine and epilepsy 22399141;22744660;22120146;22101681 False 3 100;0;0 1.83 True ENSG00000167371 ENSG00000167371 HGNC:30500 SCN1A gene SCN1A Expert Review Green;UKGTN Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted familial hemiplegic migraine 3;Dravet syndrome;several epilepsy, convulsion and migraine disorders. 16054936;19332696 False 3 100;0;0 1.83 True ENSG00000144285 ENSG00000144285 HGNC:10585 SCN8A gene SCN8A Expert Review;Expert Review Green Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Seizures, benign familial infantile, 5, OMIM:617080;Paroxysmal kinesigenic dyskinesias 26677014 False 3 100;0;0 1.83 True ENSG00000196876 ENSG00000196876 HGNC:10596 SLC1A3 gene SLC1A3 Expert Review Green;UKGTN Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPISODIC ATAXIA, TYPE 6 16116111;27829685;19139306 False 3 100;0;0 1.83 True ENSG00000079215 ENSG00000079215 HGNC:10941 SLC2A1 gene SLC2A1 Expert Review Green;UKGTN Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia;EPILEPSY, IDIOPATHIC GENERALIZED;GLUT1 DEFICIENCY SYNDROME 1;dystonia 9 19630075;18451999;18577546 False 3 100;0;0 1.83 True ENSG00000117394 ENSG00000117394 HGNC:11005 SLC6A5 gene SLC6A5 Expert Review;Expert Review Green Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 3, 614618 16751771 False 3 100;0;0 1.83 True ENSG00000165970 ENSG00000165970 HGNC:11051 SPR gene SPR Expert Review Green;Literature Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 False 3 100;0;0 1.83 False ENSG00000116096 ENSG00000116096 HGNC:11257 KCNK18 gene KCNK18 Expert Review Amber;UKGTN Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; 20871611;22355750 False 2 0;0;100 1.83 True ENSG00000186795 ENSG00000186795 HGNC:19439 ATN1_CAG str ATN1 Expert Review Green;NHS GMS;Expert list Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentatorubral-pallidoluysian atrophy, OMIM:125370 20301664;8136840;20301664;8136840;8136826;7614090 False 3 100;0;0 1.83 True ENSG00000111676 ENSG00000111676 HGNC:3033 12 7045880 7045936 6936717 6936772 CAG 36 48 CACNA1A_CAG str CACNA1A Expert Review Green;NHS GMS;Expert Review Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 6, OMIM:183086 False 3 0;0;0 1.83 True ENSG00000141837 ENSG00000141837 HGNC:1388 19 13318673 13318711 13207859 13207897 CAG 19 20 CSTB_CCCCGCCCCGCG str CSTB Expert Review Green;NHS GMS;Expert Review Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 False 3 0;0;0 1.83 True ENSG00000160213 ENSG00000160213 HGNC:2482 21 45196328 45196351 43776429 43776470 CCCCGCCCCGCG 18 30 TBP_CAG str TBP Expert Review Green;NHS GMS;Expert Review Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 17, OMIM:607136 20301611;34906452;35493319 False 3 0;0;0 1.83 True ENSG00000112592 ENSG00000112592 HGNC:11588 6 170870996 170871109 170561908 170562021 CAG 41 49 ISCA-37468-Loss region Expert Review Green;ClinGen Brain channelopathy Channelopathies Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) episodes of sudden loss of muscle tone;severe intellectual disability;exiting behavior;short stature;eleveated serotonin levels;autistic features;lip-smacking;hypotonia;stereotypical hand movements 20485326;22365943;23414621 False 3 0;0;0 1.83 False X 43654906 43882474 3 60 cnv_loss Xp11.23 region (includes MAOA and MAOB) Loss