CACNA1S

calcium voltage-gated channel subunit alpha1 S
OMIM: 114208, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green CACNA1S in Skeletal Muscle Channelopathies Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.48	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hypokalemic periodic paralysis, type 1, 170400 Tags treatable
Green CACNA1S in Rhabdomyolysis and metabolic muscle disorders Level 2: Neurology Version 5.14 Latest signed off version: v5.4 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes {Malignant hyperthermia susceptibility 5}, OMIM:601887
Red CACNA1S in Paroxysmal central nervous system disorders Level 2: Neurology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Hypokalemic periodic paralysis, type 1, 170400
Green CACNA1S in Congenital myopathy Level 2: Neurology Version 6.45 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes Congenital myopathy, MONDO:0019952
Green CACNA1S in Skeletal muscle channelopathy Level 2: Neurology Version 3.8 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Congenital myopathy, MONDO:0019952 Hypokalaemic periodic paralysis, type I, OMIM:170400
Green CACNA1S in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Expert Review Phenotypes Congenital myopathy 18 due to dihydropyridine receptor defect, OMIM:620246
Red CACNA1S in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Hypokalemic periodic paralysis, type 1, 170400 {Malignant hyperthermia susceptibility 5}, 601887 {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580
Green CACNA1S in Malignant hyperthermia Level 2: Neurology Version 1.5 Latest signed off version: v1.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes {Malignant hyperthermia susceptibility 5}, OMIM:601887
Green CACNA1S in Acute rhabdomyolysis Level 2: Neurology Version 2.7 Latest signed off version: v2.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes {Malignant hyperthermia susceptibility 5}, OMIM:601887