Familial hyperparathyroidism or hypocalciuric hypercalcaemia
Gene: CASR
gene also associated with neonatal hyperparathyroidism and autosomal dominant hypocalcaemia (ADH - activating mutations)Created: 9 Jan 2019, 4:54 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
familial isolated hyperparathyroidism; FHH1
Publications
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: 29 Jan 2019, 11:52 a.m.
CASR is confirmed to be associated with severe neonatal hyperparathyroidism on OMIM but not in Gene2Phenotype. CASR is also a green gene in the Familial hypoparathyroidism panel (Version 1.7) and Nephrocalcinosis or nephrolithiasis (Version 1.15). There are >3 unrelated cases of patients diagnosed with severe neonatal hyperparathyroidism who have variants in the CASR gene.Created: 5 Dec 2018, 2:17 p.m.
Publications for gene: CASR were set to 15292296; 7916660; 9253359; 8675635; 25162666; 28740527
Phenotypes for gene: CASR were changed from Hyperparathyroidism, neonatal (239200); Hypocalcemia, autosomal dominant (601198); Familial isolated hyperparathyroidism; FHH1 to Hyperparathyroidism, neonatal, OMIM:239200; Hypocalcemia, autosomal dominant, OMIM:601198; Hypocalcemia, autosomal dominant, with Bartter syndrome, OMIM:601198; Hypocalciuric hypercalcemia, type I, OMIM:145980; Familial isolated hyperparathyroidism; FHH1
Ivone Leong: CASR is confirmed to be associ
Phenotypes for gene: CASR were changed from Hyperparathyroidism, neonatal (239200); Hypocalcemia, autosomal dominant (601198) to Hyperparathyroidism, neonatal (239200); Hypocalcemia, autosomal dominant (601198); Familial isolated hyperparathyroidism; FHH1
Publications for gene: CASR were set to 15292296; 7916660; 9253359; 8675635
Gene: casr has been classified as Green List (High Evidence).
gene: CASR was added gene: CASR was added to Familial hyperparathyroidism. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CASR were set to 15292296; 7916660; 9253359; 8675635 Phenotypes for gene: CASR were set to Hyperparathyroidism, neonatal (239200); Hypocalcemia, autosomal dominant (601198)