GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: CASR

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR/AD - 239200 & 145980 listed in abnormal mineralization gp of SD. Several cases reported.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hyperparathyroidism, neonatal 239200; Hypocalcemia, autosomal dominant 601198; Hypocalcemia, autosomal dominant, with Bartter syndrome 601198; Hypocalciuric hypercalcemia, type I 145980

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Hypocalcemia, autosomal dominant 601198
Hypocalciuric hypercalcemia, type I 145980
Hyperparathyroidism, neonatal 239200
Hypocalcemia, autosomal dominant, with Bartter syndrome 601198

OMIM

601199

Clinvar variants

Variants in CASR

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: CASR was added gene: CASR was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CASR were set to Hypocalcemia, autosomal dominant 601198; Hypocalciuric hypercalcemia, type I 145980; Hyperparathyroidism, neonatal 239200; Hypocalcemia, autosomal dominant, with Bartter syndrome 601198

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: CASR