Newborns additional phenotypes panel 3
Gene: CASREnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 13 panels
1 review
Mafalda Gomes (Genomics England Curator)
The mechanism of pathogenicity is gain-of-function (GOF).Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.6
Autosomal Dominant Hypocalcemia Type 1: A Systematic Review - PubMed (nih.gov)Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.3
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Autosomal dominant hypocalcemia 1
- OMIM
- 601199
- Clinvar variants
- Variants in CASR
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- 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
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Autosomal dominant hypocalcemia 1 for gene: CASR
Set mode of inheritance
Mafalda Gomes (Genomics England Curator)Mode of inheritance for gene: CASR was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source, Set mode of inheritance, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Amber was added to CASR. Mode of inheritance for gene CASR was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Autosomal dominant hypocalcemia 1 for gene: CASR Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Mafalda Gomes (Genomics England Curator)gene: CASR was added gene: CASR was added to Newborns additional phenotypes panel 3. Sources: Expert Review Red Mode of inheritance for gene: CASR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CASR were set to Autosomal dominant hypocalcemia 1 Mode of pathogenicity for gene: CASR was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments