Kidneyome_SuperPanel_KidGen_VCGS
Gene: CASREnsemblGeneIds (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
-
- Victorian Clinical Genetics Services
- Expert list
- KidGen_CalcPhos v38.1.0
- 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
-
- Familial pulmonary fibrosis
- Renal tubulopathies
- Parathyroid Cancer
- Familial hyperparathyroidism or hypocalciuric hypercalcaemia
- Skeletal dysplasia
- Familial hypoparathyroidism
- Pancreatitis
- Intellectual disability
- Early onset or syndromic epilepsy
- Fetal anomalies
- Calcium-sensing receptor phenotypes
- Nephrocalcinosis or nephrolithiasis
- Osteogenesis imperfecta
History Filter Activity
Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Mode of inheritance for gene CASR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198 for gene: CASR
Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)Source Victorian Clinical Genetics Services was added to CASR. Mode of inheritance for gene CASR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source Expert list was added to CASR. Mode of inheritance for gene CASR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198 for gene: CASR Publications for gene CASR were changed from to 8813042; 27234911
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: CASR was added gene: CASR was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CalcPhos v38.1.0 Mode of inheritance for gene: CASR was set to Unknown