Renal Tubulopathies and related disorders
Gene: CASR
Established association
GoF is the mechanism for HypocalcemiaCreated: 4 Apr 2022, 1:01 a.m. | Last Modified: 4 Apr 2022, 1:01 a.m.
Panel Version: 0.12501
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Hyperparathyroidism, neonatal MIM#239200; Hypocalcemia, autosomal dominant MIM#601198; Hypocalcemia autosomal dominant, with Bartter syndrome MIM#601198; hypercalcemia, type I MIM#145980
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypic overlap with Bartter, individuals identified as part of Bartter-like cohorts.Created: 8 Oct 2020, 9:53 a.m. | Last Modified: 8 Oct 2020, 9:53 a.m.
Panel Version: 0.10
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypocalciuric hypercalcemia, type I, MIM# 145980
Publications
gene: CASR was added gene: CASR was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: CASR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CASR were set to 30760291; 8813042; 27234911 Phenotypes for gene: CASR were set to Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198; Hypocalciuric hypercalcemia, type I, MIM# 145980