Familial hypoparathyroidism
Gene: CASRAs 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, 2:37 p.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 2/4 sources. One reviewer recommends Green. Current diagnosticCreated: 3 Jun 2016, 2:38 p.m.
Comment on mode of pathogenicity: ADH1 caused by GOF mutations in CASR, LOF cause FHH1/FIHP/NHPTCreated: 3 Jun 2016, 2:21 p.m.
ADH1 caused by GOF mutations in CASR, LOF cause FHH1/FIHP/NHPTCreated: 13 Oct 2015, 11:23 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ADH1
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for CASR were set to Hyperparathyroidism, neonatal, 239200; Hypocalcemia, autosomal dominant, with or without Bartter syndrome, 601198
Mode of inheritance for CASR was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene CASR were set to Hyperparathyroidism, neonatal, 239200; Hypocalcemia, autosomal dominant, with and without Bartter syndrome, 601198
Mode of pathogenicity for CASR was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Phenotypes for gene CASR were set to Familial Isolated Hypoparathyroidism;Hypoparathyroidism, Familial Isolated
CASR was added to Familial or syndromic hypoparathyroidismpanel. Sources: Eligibility statement prior genetic testing
CASR was added to Familial or syndromic hypoparathyroidismpanel. Sources: Expert list
CASR was added to Familial or syndromic hypoparathyroidismpanel. Sources: UKGTN
CASR was added to Familial or syndromic hypoparathyroidismpanel. Sources: Illumina TruGenome Clinical Sequencing Services