Familial hypoparathyroidism
Gene: CASR

CASR (calcium sensing receptor)
EnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 13 panels

3 reviews

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, 2:37 p.m.

Created: 5 Feb 2019, 2:37 p.m.

Panel version: 1.10

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 2/4 sources. One reviewer recommends Green. Current diagnostic
Created: 3 Jun 2016, 2:38 p.m.

Comment on mode of pathogenicity: ADH1 caused by GOF mutations in CASR, LOF cause FHH1/FIHP/NHPT
Created: 3 Jun 2016, 2:21 p.m.

Created: 3 Jun 2016, 2:21 p.m.

Panel version: 0.10

Treena Cranston (Oxford)

Green List (high evidence)

ADH1 caused by GOF mutations in CASR, LOF cause FHH1/FIHP/NHPT
Created: 13 Oct 2015, 11:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ADH1

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Oct 2015, 11:23 a.m.

Panel version: 0

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Eligibility statement prior genetic testing
Expert list
UKGTN
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Hyperparathyroidism, neonatal, 239200
Hypocalcemia, autosomal dominant, with or without Bartter syndrome, 601198

OMIM

601199

Clinvar variants

Variants in CASR

Penetrance

Complete

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