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 ATP2A1 gene ATP2A1 Expert Review Green;London North GLH;NHS GMS Skeletal muscle channelopathy Neurology BIALLELIC, autosomal or pseudoautosomal Brody myopathy OMIM:601003 8841193 False 3 100;0;0 3.8 False ENSG00000196296 ENSG00000196296 HGNC:811 CACNA1S gene CACNA1S Expert Review Green;London North GLH;NHS GMS Skeletal muscle channelopathy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital myopathy, MONDO:0019952;Hypokalaemic periodic paralysis, type I, OMIM:170400 28012042;19118277 False 3 50;50;0 3.8 False ENSG00000081248 ENSG00000081248 HGNC:1397 CLCN1 gene CLCN1 Expert Review Green;London North GLH;NHS GMS Skeletal muscle channelopathy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myotonia congenita, dominant OMIM:160800;Myotonia congenita, recessive OMIM:255700 17932099 False 3 50;50;0 3.8 False ENSG00000188037 ENSG00000188037 HGNC:2019 KCNA1 gene KCNA1 Expert Review Green;London North GLH;NHS GMS Skeletal muscle channelopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia type 1/myokymia syndrome OMIM:160120 19770477;17575281 False 3 100;0;0 3.8 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNJ2 gene KCNJ2 Expert Review Green;London North GLH;NHS GMS Skeletal muscle channelopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Andersen syndrome, OMIM:170390;Andersen-Tawil syndrome, MONDO:0008222;Episodic weakness;Periodic paralysis 16217063;12796536 False 3 50;50;0 3.8 False ENSG00000123700 ENSG00000123700 HGNC:6263 MT-ATP6 gene MT-ATP6 Expert Review Green;London North GLH;NHS GMS Skeletal muscle channelopathy Neurology MITOCHONDRIAL Can resemble skeletal muscle channelopathy 24153443 False 3 100;0;0 3.8 False ENSG00000198899 ENSG00000198899 HGNC:7414 MT-ATP8 gene MT-ATP8 Expert Review Green;London North GLH;NHS GMS Skeletal muscle channelopathy Neurology MITOCHONDRIAL Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency 24153443 False 3 100;0;0 3.8 False ENSG00000228253 ENSG00000228253 HGNC:7415 PYGM gene PYGM Expert Review Green;London North GLH;NHS GMS Skeletal muscle channelopathy Neurology BIALLELIC, autosomal or pseudoautosomal McArdle disease OMIM:232600 21880526 False 3 50;0;50 3.8 False ENSG00000068976 ENSG00000068976 HGNC:9726 RYR1 gene RYR1 Expert Review Green;London North GLH;NHS GMS Skeletal muscle channelopathy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Central core disease, OMIM:117000 (Dominant & recessive);Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive);Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant) 12136074;16163667;20839240 False 3 100;0;0 3.8 False ENSG00000196218 ENSG00000196218 HGNC:10483 SCN4A gene SCN4A Expert Review Green;London North GLH;NHS GMS Skeletal muscle channelopathy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypokalemic periodic paralysis, type 2 OMIM:613345;Hyperkalemic periodic paralysis, type 2 OMIM:170500;Paramyotonia congenita OMIM:168300;Congenital myopathy MONDO:0019952. 18166706;15534250;19118277;26700687 False 3 50;50;0 3.8 False ENSG00000007314 ENSG00000007314 HGNC:10591 ADCY5 gene ADCY5 Expert Review Red;London North GLH;NHS GMS Skeletal muscle channelopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskinesia, familial, with facial myokymia, 606703 24700542 False 1 0;0;100 3.8 False ENSG00000173175 ENSG00000173175 HGNC:236 ATP1A2 gene ATP1A2 Expert Review Red;London North GLH;NHS GMS Skeletal muscle channelopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown hypokalaemic periodic paralysis MONDO:0008223 30423015 False 1 20;20;60 3.8 False ENSG00000018625 ENSG00000018625 HGNC:800 CACNA1A gene CACNA1A Expert Review Red;London North GLH;NHS GMS Skeletal muscle channelopathy Neurology 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 3.8 False ENSG00000141837 ENSG00000141837 HGNC:1388 CNBP gene CNBP Expert Review Red;London North GLH;NHS GMS Skeletal muscle channelopathy Neurology Other Myotonic dystrophy 2, OMIM:602668;Myotonic dystrophy type 2, MONDO:0011266 18807109 False 1 100;0;0 3.8 False ENSG00000169714 ENSG00000169714 HGNC:13164 DMPK gene DMPK Expert Review Red;London North GLH;NHS GMS Skeletal muscle channelopathy Neurology Other Myotonic dystrophy 1, OMIM:160900 7825566 False 1 100;0;0 3.8 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 Neurology 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 3.8 False ENSG00000079215 ENSG00000079215 HGNC:10941 SLC2A1 gene SLC2A1 Expert Review Red;London North GLH;NHS GMS Skeletal muscle channelopathy Neurology 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 3.8 False ENSG00000117394 ENSG00000117394 HGNC:11005 DMPK_CTG str DMPK NHS GMS;Expert Review Green;Expert list Skeletal muscle channelopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1, OMIM:160900 7825566 False 3 100;0;0 3.8 False ENSG00000104936 ENSG00000104936 HGNC:2933 19 46273463 46273522 45770205 45770264 CTG 35 50 CNBP_CCTG str CNBP Expert Review Amber;NHS GMS;Expert list Skeletal muscle channelopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 2, OMIM:602668;Myotonic dystrophy type 2, MONDO:0011266 18807109 False 2 67;0;33 3.8 False ENSG00000169714 ENSG00000169714 HGNC:13164 3 128891420 128891499 129172577 129172656 CCTG 27 75