Renal tubulopathies

Gene: CASR

Green List (high evidence)

CASR (calcium sensing receptor)
EnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 15 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoting from red to green as there are sufficient cases reported in OMIM.
Created: 4 Sep 2019, 3:58 p.m. | Last Modified: 4 Sep 2019, 3:58 p.m.
Panel Version: 1.93
Comment on publications: Publications from OMIM
Created: 4 Sep 2019, 3:51 p.m. | Last Modified: 4 Sep 2019, 3:51 p.m.
Panel Version: 1.92
Associated with Hyperparathyroidism, neonatal (#239200), Hypocalcemia, autosomal dominant (#601198), Hypocalcemia, autosomal dominant, with Bartter syndrome (#601198) and Hypocalciuric hypercalcemia, type I (#145980) in OMIM.

Many cases reported in OMIM.
Created: 29 Aug 2019, 4:13 p.m. | Last Modified: 29 Aug 2019, 4:13 p.m.
Panel Version: 1.82
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: CASR; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided; Other Comments: 601198 & 145980 AD only. 239200 AD & AR
Created: 3 Feb 2019, 11:32 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypocalcemia, autosomal dominant, (with Bartter syndrome), 601198
  • Hypocalciuric hypercalcemia, type I, 145980
  • Hyperparathyroidism, neonatal, 239200
OMIM
601199
Clinvar variants
Variants in CASR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: casr has been classified as Green List (High Evidence).

4 Sep 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: CASR were set to

4 Sep 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: CASR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Jun 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CASR were changed from to Hypocalcemia, autosomal dominant, (with Bartter syndrome), 601198; Hypocalciuric hypercalcemia, type I, 145980; Hyperparathyroidism, neonatal, 239200

3 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: CASR was added gene: CASR was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: CASR was set to