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 Red;London North GLH;NHS GMS Skeletal muscle channelopathy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskinesia, familial, with facial myokymia, 606703 24700542 False 1 0;0;100 3.5 False ENSG00000173175 ENSG00000173175 HGNC:236 ATP1A2 gene ATP1A2 Expert Review Red;London North GLH;NHS GMS Skeletal muscle channelopathy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown hypokalaemic periodic paralysis MONDO:0008223 30423015 False 1 20;20;60 3.5 False ENSG00000018625 ENSG00000018625 HGNC:800 CACNA1A gene CACNA1A Expert Review Red;London North GLH;NHS GMS Skeletal muscle channelopathy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia, type 2, OMIM:108500;Migraine, familial hemiplegic, 1, OMIM:141500;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 29442233;8734765;17575281 False 1 20;20;60 3.5 False ENSG00000141837 ENSG00000141837 HGNC:1388 CNBP gene CNBP Expert Review Red;London North GLH;NHS GMS Skeletal muscle channelopathy Other Myotonic dystrophy 2, OMIM:602668;Myotonic dystrophy type 2, MONDO:0011266 18807109 False 1 100;0;0 3.5 False ENSG00000169714 ENSG00000169714 HGNC:13164 DMPK gene DMPK Expert Review Red;London North GLH;NHS GMS Skeletal muscle channelopathy Other Myotonic dystrophy 1, OMIM:160900 7825566 False 1 100;0;0 3.5 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000104936 ENSG00000104936 HGNC:2933 SLC1A3 gene SLC1A3 Expert Review Red;London North GLH;NHS GMS Skeletal muscle channelopathy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia, type 6, OMIM:612656;episodic ataxia type 6, MONDO:0012982 16116111;19139306;25497598 False 1 25;0;75 3.5 False ENSG00000079215 ENSG00000079215 HGNC:10941 SLC2A1 gene SLC2A1 Expert Review Red;London North GLH;NHS GMS Skeletal muscle channelopathy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, idiopathic generalized, susceptibility to, 12, OMIM:614847;GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777;GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126 19630075;26598494;10980529 False 1 20;20;60 3.5 False ENSG00000117394 ENSG00000117394 HGNC:11005