Hypocalciuric hypercalcaemia
Gene: CASREnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 13 panels
2 reviews
Treena Cranston (Oxford)
CASR is causative of FHH type 1
There are rare cases of autosomal recessive inheritance resulting in FHH1 (rather than neonatal hyperparathyroidism)Created: 31 Dec 2018, 3:33 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Ivone Leong (Genomics England Curator)
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 5 Feb 2019, 2:28 p.m.
CASR is confirmed to be associated with type I hypocalciuric hypercalcemia on OMIM, but no phenotypes have been listed on Gene2Phenotype. CASR is a green gene in the Nephrocalcinosis or nephrolithiasis panel (Version 1.15). There are >3 unrelated cases of patients with type I hypocalciuric hypercalcemia who have variants in the CASR gene listed in OMIM.Created: 5 Dec 2018, 5:13 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Hypocalciuric hypercalcemia, type I, OMIM:145980
- OMIM
- 601199
- Clinvar variants
- Variants in CASR
- Penetrance
- None
- Publications
- Panels with this gene
-
- Calcium-sensing receptor phenotypes
- Nephrocalcinosis or nephrolithiasis
- Osteogenesis imperfecta
- Skeletal dysplasia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Familial pulmonary fibrosis
- Renal tubulopathies
- Parathyroid Cancer
- Intellectual disability
- Familial hyperparathyroidism or hypocalciuric hypercalcaemia
- Familial hypoparathyroidism
- Pancreatitis
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CASR were changed from Hypocalciuric hypercalcemia, type I (145980) to Hypocalciuric hypercalcemia, type I, OMIM:145980
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: CASR is confirmed to be associ
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: CASR were set to 7874174; 7916660; 19423559
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: CASR were set to
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: casr has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: CASR was added gene: CASR was added to Hypocalciuric hypercalcaemia. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CASR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CASR were set to Hypocalciuric hypercalcemia, type I (145980)