Familial hypoparathyroidism
Gene: GNA11As 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 (615361), which includes low to low-normal parathyroid hormone levels. Not in G2P. Found in 2/4 sources. One reviewer recommends Green. Current diagnostic testCreated: 6 Jun 2016, 9:28 a.m.
Comment on mode of pathogenicity: Gain of function variants cause autosomal dominant hypocalcemia type 2 (OMIM 615361)Created: 6 Jun 2016, 9:15 a.m.
causes ADH2. GOF mutationsCreated: 13 Oct 2015, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for GNA11 were set to Hypocalcemia, autosomal dominant 2, 615361; hypercalcemia, type II, 145981
GNA11 was added to Familial or syndromic hypoparathyroidismpanel. Sources: Expert list
This gene has been classified as Green List (High Evidence).
This gene has been removed from the panel.
Mode of inheritance for GNA11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for GNA11 were set to 23802516; 24823460; 23782177
GNA11 was added to Familial or syndromic hypoparathyroidismpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
Publications for GNA11 were set to 23802516; 24823460; 24423332
Mode of pathogenicity for GNA11 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 GNA11 were set to Hypocalcemia, autosomal dominant 2, 615361; Hypocalciuric hypercalcemia, type II, 145981
Phenotypes for gene GNA11 were set to Hypocalcemia, autosomal dominant 2, 615361; Hypocalciuric hypercalcemia, type II, 145981
Phenotypes for gene GNA11 were set to Hypocalcemia, autosomal dominant 2, 615361; Hypocalciuric hypercalcemia, type II, 145981
GNA11 was added to Familial or syndromic hypoparathyroidismpanel. Sources: Literature