Renal tubulopathies

Gene: CASR

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