This Panel is marked as Retired
Multiple Tumours
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
1 review
Ellen McDonagh (Genomics England Curator)
On the UKGTN Hereditary Cancers 82 Gene Panel for Pituitary Cancer, Parathyroid and Hypercalcaemia.Created: 18 Apr 2017, 1:55 p.m.
Mode of inheritance
Unknown
Phenotypes
Pituitary Cancer, Parathyroid and Hypercalcaemia
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- UKGTN
- Phenotypes
-
- Pituitary Cancer, Parathyroid and Hypercalcaemia
- OMIM
- 601199
- Clinvar variants
- Variants in CASR
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Familial hyperparathyroidism or hypocalciuric hypercalcaemia
- Early onset or syndromic epilepsy
- Familial hypoparathyroidism
- Pancreatitis
- Fetal anomalies
- Calcium-sensing receptor phenotypes
- Nephrocalcinosis or nephrolithiasis
- Osteogenesis imperfecta
- Intellectual disability
- Familial pulmonary fibrosis
- Renal tubulopathies
- Parathyroid Cancer
History Filter Activity
18 Apr 2017, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
18 Apr 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CASR was created by ellenmcdonagh
18 Apr 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CASR was added to Multiple Tumourspanel. Sources: UKGTN