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 CACNB4 gene CACNB4 Expert Review Red;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 {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682; {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682; Episodic ataxia, type 5, 613855;Episodic Ataxia False 1 0;0;100 1.46 False ENSG00000182389 ENSG00000182389 HGNC:1404 CNBP gene CNBP Eligibility statement prior genetic testing;Expert Review Red Skeletal Muscle Channelopathies Channelopathies Neurology and neurodevelopmental disorders Other Myotonic dystrophy 2, OMIM:602668;Myotonic dystrophy type 2, MONDO:0011266 False 1 0;67;33 1.46 False ENSG00000169714 ENSG00000169714 HGNC:13164 DMPK gene DMPK Eligibility statement prior genetic testing;Expert Review Red Skeletal Muscle Channelopathies Channelopathies Neurology and neurodevelopmental disorders Other Myotonic dystrophy 1, OMIM:160900 False 1 67;0;33 1.46 False ENSG00000104936 ENSG00000104936 HGNC:2933 HSPG2 gene HSPG2 Expert Review;Expert Review Red Skeletal Muscle Channelopathies Channelopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Schwartz-Jampel syndrome, type 1, OMIM:255800;Schwartz-Jampel syndrome, MONDO:0009717;Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410;Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140 False 1 100;0;0 1.46 False ENSG00000142798 ENSG00000142798 HGNC:5273 KCNJ18 gene KCNJ18 Expert Review Red;UKGTN Skeletal Muscle Channelopathies Channelopathies Neurology and neurodevelopmental disorders Hypokalemic Periodic Paralysis, Type 1 20074522 False 1 33;0;67 1.46 False - ENSG00000260458 HGNC:39080 KCNQ2 gene KCNQ2 Expert Review Red;Radboud University Medical Center, Nijmegen Skeletal Muscle Channelopathies Channelopathies Neurology and neurodevelopmental disorders Seizures, benign neonatal, 1, 121200; Myokymia, 121200; Epileptic encephalopathy, early infantile, 7, 613720 False 1 0;0;100 1.46 False ENSG00000075043 ENSG00000075043 HGNC:6296