Mosaic skin disorders - deep sequencing

Gene: GNAQ

Green List (high evidence)

GNAQ (G protein subunit alpha q)
EnsemblGeneIds (GRCh38): ENSG00000156052
EnsemblGeneIds (GRCh37): ENSG00000156052
OMIM: 600998, Gene2Phenotype
GNAQ is in 8 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

R183Q, Q209P. Mosaicism 5-15% in affected tissue.
Created: 5 Dec 2019, 3:40 p.m. | Last Modified: 5 Dec 2019, 3:40 p.m.
Panel Version: 0.16

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sturge Weber syndrome; Phakomatosis pigmentovascularis; Extensive dermal melanocytosis

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

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: GNAQ; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 2:50 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Phakomatosis pigmentovascularis
  • Extensive dermal melanocytosis
  • Sturge Weber syndrome
OMIM
600998
Clinvar variants
Variants in GNAQ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene GNAQ were changed from to 26778290

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to GNAQ.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: GNAQ was added gene: GNAQ was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GNAQ were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis; Sturge Weber syndrome