CACNA1S

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

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green CACNA1S in Skeletal Muscle Channelopathies Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.46	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 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.48 Latest signed off version: v3.0 (22 Mar 2023) 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
Green CACNA1S in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myopathy Malignant hyperthermia susceptibility 5, 601887
Red CACNA1S in Paroxysmal central nervous system disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	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 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.37 Latest signed off version: v4.0 (22 Mar 2023) 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 Version 3.5 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
Amber CACNA1S in Fetal anomalies Version 3.157 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Phenotypes Congenital myopathy arthrogryposis
Red CACNA1S in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.536 Latest signed off version: v5.0 (22 Mar 2023) 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 Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Hypokalemic periodic paralysis, type 1, 170400
Green CACNA1S in Malignant hyperthermia Version 1.3 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 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 1.18 Latest signed off version: v1.7 (31 May 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes {Malignant hyperthermia susceptibility 5}, OMIM:601887