1. Panels
  2. Fetal anomalies
  3. GNAQ
Genes in panel
Prev Next

Fetal anomalies

Gene: GNAQ

Red List (low evidence)
GNAQ (G protein subunit alpha q)
EnsemblGeneIds (GRCh38): ENSG00000156052
EnsemblGeneIds (GRCh37): ENSG00000156052
OMIM: 600998, Gene2Phenotype
GNAQ is in 8 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 Canham (Liverpool Women's Hospital)

Red List (low evidence)

Appears to be exclusively somatic variants, so ?not detectable on CVS sample. Difficult to see how this would be detected antenatally - cannot see haemangiomas and brain malformations appear to be acquired. PMID - 36263782, 37606556, 23656586
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
Capillary malformations, congenital, 1, somatic, mosaic, MIM#163000; Sturge-Weber syndrome, somatic, mosaic, MIM#185300

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, 4:54 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
  • Expert Review Red
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Sturge-Weber syndrome, somatic, mosaic, OMIM:185300
  • Capillary malformations, congenital, 1, somatic, mosaic, OMIM:163000
Tags
mosaicism
OMIM
600998
Clinvar variants
Variants in GNAQ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: GNAQ were changed from Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Congenital Hemangioma; Capillary malformations, congenital, 1, somatic, mosaic, OMIM:163000 to Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Capillary malformations, congenital, 1, somatic, mosaic, OMIM:163000

20 Feb 2025, Gel status: 1

Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to GNAQ. Source Expert Review Red was added to GNAQ. Added phenotypes Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Capillary malformations, congenital, 1, somatic, mosaic, OMIM:163000 for gene: GNAQ Publications for gene: GNAQ were updated from to 23656586; 37606556; 36263782 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag mosaicism tag was added to gene: GNAQ.

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

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