This Panel is marked as Deleted
Kidneyome_SuperPanel_VCGS
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198
- OMIM
- 601199
- Clinvar variants
- Variants in CASR
- Penetrance
- None
- Publications
- Panels with this gene
-
- Calcium-sensing receptor phenotypes
- Nephrocalcinosis or nephrolithiasis
- Osteogenesis imperfecta
- Intellectual disability
- Familial pulmonary fibrosis
- Early onset or syndromic epilepsy
- Renal tubulopathies
- Parathyroid Cancer
- Fetal anomalies
- Familial hyperparathyroidism or hypocalciuric hypercalcaemia
- Skeletal dysplasia
- Familial hypoparathyroidism
- Pancreatitis
History Filter Activity
28 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: CASR was added gene: CASR was added to Kidneyome_SuperPanel_VCGS. Sources: Expert Review Green,Expert list Mode of inheritance for gene: CASR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CASR were set to 27234911; 8813042 Phenotypes for gene: CASR were set to Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198