Familial hypoparathyroidism
Gene: GATA3As 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, 2:39 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, 1:56 p.m.
Generally associated with HDR syndrome or minimally Hypoparathyroidism plus 1 of either deafness or renal impairment.Created: 13 Oct 2015, 11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
HDR syndrome
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
Phenotypes for GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255;
GATA3 was added to Familial or syndromic hypoparathyroidismpanel. Sources: Expert list
GATA3 was added to Familial or syndromic hypoparathyroidismpanel. Sources: UKGTN
Model of inheritance for gene GATA3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
GATA3 was added to Familial or syndromic hypoparathyroidismpanel. Sources: Illumina TruGenome Clinical Sequencing Services
GATA3 was added to Familial or syndromic hypoparathyroidismpanel. Sources: Radboud University Medical Center, Nijmegen