Familial hypoparathyroidism
Gene: GCM2As 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, 2:40 p.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 3/4 sources. One reviewer recommends Green. Current diagnosticCreated: 3 Jun 2016, 2:06 p.m.
inherited in both autosomal recessive and autosomal dominant manner. Mutation dependentCreated: 13 Oct 2015, 11:11 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
isolated hypoparathyriodism
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
Mode of inheritance for GCM2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for GCM2 were set to 18712808; 22066718; 20463099; 20190276
Phenotypes for gene GCM2 were set to Hypoparathyroidism, familial isolated, 146200
GCM2 was added to Familial or syndromic hypoparathyroidismpanel. Sources: Expert list
GCM2 was added to Familial or syndromic hypoparathyroidismpanel. Sources: UKGTN
Model of inheritance for gene GCM2 was changed to BIALLELIC, autosomal or pseudoautosomal
GCM2 was added to Familial or syndromic hypoparathyroidismpanel. Sources: Illumina TruGenome Clinical Sequencing Services
GCM2 was added to Familial or syndromic hypoparathyroidismpanel. Sources: Radboud University Medical Center, Nijmegen