Arthrogryposis
Gene: CACNA1SEnsemblGeneIds (GRCh38): ENSG00000081248
EnsemblGeneIds (GRCh37): ENSG00000081248
OMIM: 114208, Gene2Phenotype
CACNA1S is in 15 panels
1 review
Chirag Patel (Genetic Health Queensland)
Congenital myopathy-18 (CMYP18) is a disorder of the skeletal muscle characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy. There is clinical heterogeneity in the manifestations and severity, ranging from fetal akinesia sequence causing early death to onset of symptoms in adulthood.
Sources: Expert listCreated: 22 Mar 2023, 11:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myopathy 18 due to dihydropyridine receptor defect, OMIM #620246
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Congenital myopathy 18 due to dihydropyridine receptor defect, OMIM #620246
- 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 Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: cacna1s has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: CACNA1S was added gene: CACNA1S was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: CACNA1S was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACNA1S were set to PMID: 33060286, 31227654, 28012042 Phenotypes for gene: CACNA1S were set to Congenital myopathy 18 due to dihydropyridine receptor defect, OMIM #620246 Review for gene: CACNA1S was set to GREEN