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Fetal anomalies

Gene: GNA11

Amber List (moderate evidence)
GNA11 (G protein subunit alpha 11)
EnsemblGeneIds (GRCh38): ENSG00000088256
EnsemblGeneIds (GRCh37): ENSG00000088256
OMIM: 139313, Gene2Phenotype
GNA11 is in 9 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Natalie Bibb (C&S GLH)

I don't know

Green on Familial hypoparathyroidism, renal tubulopathies and mosaic skin disorders. PMID: 27438697 newborn presented with large vascular mass complicated by anemia, thrombocytopenia, and disseminated intravascular coagulopathy, as well as innumerable small vascular papules in a generalized cutaneous distribution. A somatic c.A626C, p.Q209P mutation in the GNA11 gene was identified in tumoral tissue. Variants often identified by testing tissue samples, low level mosaicism may not be identified in blood and by exome.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hypocalciuric hypercalcemia, type II, MIM#145981; Hypocalcemia, autosomal dominant 2, MIM#615361

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Congenital Hemangioma
Created: 11 Dec 2018, 9:05 a.m.
Mosaicism tag added based on original PAGE file which records Mosaic MOI for Congenital Hemangioma.
Created: 8 Nov 2018, 4:53 p.m.
In the original PAGE file, listed as Mosaic for Congenital Hemangioma. In the original PAGE file, MOP listed as Activating.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Hypocalciuric hypercalcemia, type II, OMIM:145981
  • Hypocalcemia, autosomal dominant 2, OMIM:615361
Tags
mosaicism
OMIM
139313
Clinvar variants
Variants in GNA11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: GNA11 were changed from Congenital Hemangioma; Hypocalciuric hypercalcemia, type II, OMIM:145981; Hypocalcemia, autosomal dominant 2, OMIM:615361 to Hypocalciuric hypercalcemia, type II, OMIM:145981; Hypocalcemia, autosomal dominant 2, OMIM:615361

20 Feb 2025, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to GNA11. Added phenotypes Hypocalciuric hypercalcemia, type II, OMIM:145981; Hypocalcemia, autosomal dominant 2, OMIM:615361 for gene: GNA11 Publications for gene: GNA11 were updated from to 27438697

8 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag mosaicism tag was added to gene: GNA11.

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: GNA11 was added gene: GNA11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNA11 were set to Congenital Hemangioma