Familial hypoparathyroidism

Gene: GNA11

Green List (high evidence)

GNA11 (G protein subunit alpha 11)
EnsemblGeneIds (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 test
Created: 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)

Green List (high evidence)

causes ADH2. GOF mutations
Created: 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

8 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GNA11 were set to Hypocalcemia, autosomal dominant 2, 615361; hypercalcemia, type II, 145981

6 Jun 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

GNA11 was added to Familial or syndromic hypoparathyroidismpanel. Sources: Expert list

6 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jun 2016, Gel status: 0

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been removed from the panel.

6 Jun 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for GNA11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Jun 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GNA11 were set to 23802516; 24823460; 23782177

6 Jun 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

GNA11 was added to Familial or syndromic hypoparathyroidismpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen

6 Jun 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GNA11 were set to 23802516; 24823460; 24423332

6 Jun 2016, Gel status: 0

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

6 Jun 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene GNA11 were set to Hypocalcemia, autosomal dominant 2, 615361; Hypocalciuric hypercalcemia, type II, 145981

6 Jun 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene GNA11 were set to Hypocalcemia, autosomal dominant 2, 615361; Hypocalciuric hypercalcemia, type II, 145981

6 Jun 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene GNA11 were set to Hypocalcemia, autosomal dominant 2, 615361; Hypocalciuric hypercalcemia, type II, 145981

13 Oct 2015, Gel status: 0

Added New Source

Treena Cranston (Oxford)

GNA11 was added to Familial or syndromic hypoparathyroidismpanel. Sources: Literature