Incidentalome_PREGEN_DRAFT
Gene: CACNA1S
CACNA1S (calcium voltage-gated channel subunit alpha1 S)
EnsemblGeneIds (GRCh38): ENSG00000081248
EnsemblGeneIds (GRCh37): ENSG00000081248
OMIM: 114208, Gene2Phenotype
CACNA1S is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000081248
EnsemblGeneIds (GRCh37): ENSG00000081248
OMIM: 114208, Gene2Phenotype
CACNA1S is in 15 panels
1 review
Tony Roscioli (New South Wales Health Pathology)
Unlikely to present in fetal life, but may present in childhood and has a treatment - requires discussionCreated: 4 Dec 2020, 4:11 a.m. | Last Modified: 4 Dec 2020, 4:11 a.m.
Panel Version: 0.3
Details
- Mode of Inheritance
- Unknown
- Sources
-
- NSW Health Pathology
- Expert Review Green
- OMIM
- 114208
- Clinvar variants
- Variants in CACNA1S
- Penetrance
- None
- 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
9 Nov 2020, Gel status: 3
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 Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology Mode of inheritance for gene: CACNA1S was set to Unknown