Hypocalciuric hypercalcaemia
Gene: CASR
CASR is causative of FHH type 1
There are rare cases of autosomal recessive inheritance resulting in FHH1 (rather than neonatal hyperparathyroidism)Created: 31 Dec 2018, 3:33 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 5 Feb 2019, 2:28 p.m.
CASR is confirmed to be associated with type I hypocalciuric hypercalcemia on OMIM, but no phenotypes have been listed on Gene2Phenotype. CASR is a green gene in the Nephrocalcinosis or nephrolithiasis panel (Version 1.15). There are >3 unrelated cases of patients with type I hypocalciuric hypercalcemia who have variants in the CASR gene listed in OMIM.Created: 5 Dec 2018, 5:13 p.m.
Phenotypes for gene: CASR were changed from Hypocalciuric hypercalcemia, type I (145980) to Hypocalciuric hypercalcemia, type I, OMIM:145980
Ivone Leong: CASR is confirmed to be associ
Publications for gene: CASR were set to 7874174; 7916660; 19423559
Publications for gene: CASR were set to
Gene: casr has been classified as Green List (High Evidence).
gene: CASR was added gene: CASR was added to Hypocalciuric hypercalcaemia. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CASR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CASR were set to Hypocalciuric hypercalcemia, type I (145980)