Parathyroid Cancer
Gene: CASR
CASR (calcium sensing receptor)
EnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 13 panels
2 reviews
Katie Snape (South London GMC)
Louise IZATT (GSTT Clinical Genetics Service)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Pituitary Cancer, Parathyroid and Hypercalcemia
- OMIM
- 601199
- Clinvar variants
- Variants in CASR
- Penetrance
- Complete
- Panels with this gene
-
- Familial pulmonary fibrosis
- Renal tubulopathies
- Parathyroid Cancer
- Fetal anomalies
- Familial hyperparathyroidism or hypocalciuric hypercalcaemia
- Familial hypoparathyroidism
- Skeletal dysplasia
- Pancreatitis
- Early onset or syndromic epilepsy
- Intellectual disability
- Calcium-sensing receptor phenotypes
- Nephrocalcinosis or nephrolithiasis
- Osteogenesis imperfecta
History Filter Activity
14 Feb 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
18 Aug 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CASR was added to Parathyroid Cancerpanel. Sources: UKGTN