Familial hypoparathyroidism
Gene: GNA11EnsemblGeneIds (GRCh38): ENSG00000088256
EnsemblGeneIds (GRCh37): ENSG00000088256
OMIM: 139313, Gene2Phenotype
GNA11 is in 9 panels
3 reviews
Ivone Leong (Genomics England Curator)
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: 5 Feb 2019, 2:40 p.m.
Sarah Leigh (Genomics England Curator)
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.
Treena Cranston (Oxford)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert list
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Hypocalcemia, autosomal dominant 2, 615361
- hypercalcemia, type II, 145981
- OMIM
- 139313
- Clinvar variants
- Variants in GNA11
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GNA11 were set to Hypocalcemia, autosomal dominant 2, 615361; hypercalcemia, type II, 145981
Upload gene information
Sarah Leigh (Genomics England Curator)GNA11 was added to Familial or syndromic hypoparathyroidismpanel. Sources: Expert list
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been removed from the panel.
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for GNA11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set publications
Sarah Leigh (Genomics England Curator)Publications for GNA11 were set to 23802516; 24823460; 23782177
Upload gene information
Sarah Leigh (Genomics England Curator)GNA11 was added to Familial or syndromic hypoparathyroidismpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
Set publications
Sarah Leigh (Genomics England Curator)Publications for GNA11 were set to 23802516; 24823460; 24423332
Set mode of pathogenicity
Sarah Leigh (Genomics England Curator)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
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene GNA11 were set to Hypocalcemia, autosomal dominant 2, 615361; Hypocalciuric hypercalcemia, type II, 145981
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene GNA11 were set to Hypocalcemia, autosomal dominant 2, 615361; Hypocalciuric hypercalcemia, type II, 145981
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene GNA11 were set to Hypocalcemia, autosomal dominant 2, 615361; Hypocalciuric hypercalcemia, type II, 145981
Added New Source
Treena Cranston (Oxford)GNA11 was added to Familial or syndromic hypoparathyroidismpanel. Sources: Literature