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;Radboud University Medical Center, Nijmegen Skeletal Muscle Channelopathies Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskinesia, familial, with facial myokymia, 606703 False 3 100;0;0 1.46 False ENSG00000173175 ENSG00000173175 HGNC:236 ATP1A2 gene ATP1A2 Expert list;Expert Review Green Skeletal Muscle Channelopathies Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Migraine, familial hemiplegic, 2, 602481;Alternating hemiplegia of childhood 1, 104290;Hypokalaemic periodic paralysis 30423015;15286158;18056581 False 3 100;0;0 1.46 False ENSG00000018625 ENSG00000018625 HGNC:800 ATP2A1 gene ATP2A1 Expert list;Expert Review Green Skeletal Muscle Channelopathies Channelopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brody myopathy 601003 884119;8841193;9367679 False 3 100;0;0 1.46 False ENSG00000196296 ENSG00000196296 HGNC:811 CACNA1A gene CACNA1A Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Skeletal Muscle Channelopathies Channelopathies Neurology and neurodevelopmental disorders 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 3 0;0;100 1.46 False ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1S gene CACNA1S Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Skeletal Muscle Channelopathies Channelopathies Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypokalemic periodic paralysis, type 1, 170400 15534250;18835861;28012042 False 3 100;0;0 1.46 False ENSG00000081248 ENSG00000081248 HGNC:1397 CLCN1 gene CLCN1 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Skeletal Muscle Channelopathies Channelopathies Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myotonia congenita, recessive, 255700; Myotonia congenita, dominant, 160800; Myotonia levior, recessive;Myotonia Congenita;Hyperkalemic Periodic Paralysis;Myotonia 11840191;18337100;22649220 False 3 100;0;0 1.46 False ENSG00000188037 ENSG00000188037 HGNC:2019 KCNA1 gene KCNA1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Skeletal Muscle Channelopathies Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia/myokymia syndrome, 160120;Episodic Ataxia; Myokymia;Episodic Ataxia, Type 1; EA1 False 3 67;0;33 1.46 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNJ2 gene KCNJ2 Eligibility statement prior genetic testing;Expert Review Green;UKGTN Skeletal Muscle Channelopathies 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 False 3 100;0;0 1.46 False ENSG00000123700 ENSG00000123700 HGNC:6263 MT-ATP6 gene MT-ATP6 Expert Review;Expert Review Green Skeletal Muscle Channelopathies Channelopathies Neurology and neurodevelopmental disorders MITOCHONDRIAL False 3 100;0;0 1.46 False ENSG00000198899 ENSG00000198899 HGNC:7414 MT-ATP8 gene MT-ATP8 Expert Review;Expert Review Green Skeletal Muscle Channelopathies Channelopathies Neurology and neurodevelopmental disorders MITOCHONDRIAL False 3 100;0;0 1.46 False ENSG00000228253 ENSG00000228253 HGNC:7415 PYGM gene PYGM Expert Review;Expert Review Green Skeletal Muscle Channelopathies Channelopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal McArdle disease, 232600 False 3 0;0;0 1.46 False ENSG00000068976 ENSG00000068976 HGNC:9726 RYR1 gene RYR1 Expert Review;Expert Review Green Skeletal Muscle Channelopathies Channelopathies Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 3 100;0;0 1.46 False ENSG00000196218 ENSG00000196218 HGNC:10483 SCN4A gene SCN4A Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Skeletal Muscle Channelopathies Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperkalemic periodic paralysis, type 2, 170500;Myasthenic syndrome, acetazolamide-responsive, 614198;Hypokalemic periodic paralysis, type 2, 613;Potassium-Aggravated Myotonia;Hyperkalemic Periodic Paralysis;Hypokalemic Periodic Paralysis;Thyrotoxic Periodic Paralysis, Susceptibility To, 2;Myotonia;Episodic weakness 17395131;15534250 False 3 100;0;0 1.46 False ENSG00000007314 ENSG00000007314 HGNC:10591 SLC1A3 gene SLC1A3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Skeletal Muscle Channelopathies Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia, type 6, 612656;Episodic Ataxia False 3 0;0;100 1.46 False ENSG00000079215 ENSG00000079215 HGNC:10941 SLC2A1 gene SLC2A1 Expert list;Expert Review Green Skeletal Muscle Channelopathies Channelopathies Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, idiopathic generalized, susceptibility to, 12, 614847;Can resemble skeletal muscle channelopathy;GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (recessive and dominant).;GLUT1 deficiency syndrome 2, childhood onset, 612126;myotonia;dystonia 19630075;26598494;10980529 False 3 100;0;0 1.46 False ENSG00000117394 ENSG00000117394 HGNC:11005 CNBP_CCTG str CNBP Expert Review Green;NHS GMS;Expert list Skeletal Muscle Channelopathies Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 2, OMIM:602668;Myotonic dystrophy type 2, MONDO:0011266 False 3 67;0;33 1.46 False ENSG00000169714 ENSG00000169714 HGNC:13164 3 128891420 128891499 129172577 129172656 CAGG 27 75 DMPK_CTG str DMPK Expert Review Green;NHS GMS;Expert list Skeletal Muscle Channelopathies Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1, OMIM:160900 False 3 100;0;0 1.46 True ENSG00000104936 ENSG00000104936 HGNC:2933 19 46273463 46273522 45770205 45770264 CTG 35 50