Renal tubulopathies
Gene: CASR
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 OMIMCreated: 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 & ARCreated: 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
Gene: casr has been classified as Green List (High Evidence).
Publications for gene: CASR were set to
Mode of inheritance for gene: CASR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CASR were changed from to Hypocalcemia, autosomal dominant, (with Bartter syndrome), 601198; Hypocalciuric hypercalcemia, type I, 145980; Hyperparathyroidism, neonatal, 239200
gene: CASR was added gene: CASR was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: CASR was set to