Brain 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)
Well established gene-disease association but a skeletal muscle channelopathy.Created: 29 Dec 2020, 9:03 a.m. | Last Modified: 29 Dec 2020, 9:08 a.m.
Panel Version: 0.52
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, NOT imprinted
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hypokalemic periodic paralysis, type 1, MIM# 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
- Additional findings_Adult
- Brain Channelopathies
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Transplant Co-Morbidity Superpanel
- Muscular dystrophy and myopathy_Paediatric
- Incidentalome
- Additional findings_Paediatric
- 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 Red List (Low Evidence).
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 Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CACNA1S were changed from to Hypokalemic periodic paralysis, type 1, MIM# 170400
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CACNA1S were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CACNA1S was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CACNA1S was added gene: CACNA1S was added to Channelopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CACNA1S was set to Unknown