Skeletal Muscle Channelopathies
Gene: CACNA1SEnsemblGeneIds (GRCh38): ENSG00000081248
EnsemblGeneIds (GRCh37): ENSG00000081248
OMIM: 114208, Gene2Phenotype
CACNA1S is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
The classic picture of HOKPP is episodic weakness accompanied by low serum potassium levels. The attacks are aborted by administration of potassium or by exercise and are precipitated by insulin or glucose administration. Hypokalemic periodic paralysis shows markedly reduced penetrance in females, although penetrance is 100% in males.
Well established gene-disease association.Created: 16 Jan 2021, 11:44 p.m. | Last Modified: 16 Jan 2021, 11:44 p.m.
Panel Version: 0.17
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypokalemic periodic paralysis, type 1, MIM# 170400
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Malignant hyperthermia susceptibility type 5
- Hypokalemic periodic paralysis, type 1, 170400
- OMIM
- 114208
- Clinvar variants
- Variants in CACNA1S
- Penetrance
- None
- Publications
- Panels with this gene
-
- Skeletal Muscle Channelopathies
- Paroxysmal Dyskinesia
- Malignant Hyperthermia Susceptibility
- Rhabdomyolysis and Metabolic Myopathy
- Brain Channelopathies
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Transplant Co-Morbidity Superpanel
- Muscular dystrophy and myopathy_Paediatric
- Incidentalome
- Additional findings_Paediatric
- Additional findings_Adult
- Arthrogryposis
- Pharmacogenomics_Paediatric
- Renal Tubulopathies and related disorders
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cacna1s has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CACNA1S were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CACNA1S was added gene: CACNA1S was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CACNA1S were set to Malignant hyperthermia susceptibility type 5; Hypokalemic periodic paralysis, type 1, 170400