Vascular skin disorders

Gene: GNAQ

No list

GNAQ (G protein subunit alpha q)
EnsemblGeneIds (GRCh38): ENSG00000156052
EnsemblGeneIds (GRCh37): ENSG00000156052
OMIM: 600998, Gene2Phenotype
GNAQ is in 9 panels

3 reviews

Catherine Snow (Genomics England)

Comment on list classification: Following advice from Tom Cullup of GOSH "test on this not fit for purpose as only v.low level mosaicism. To be fulfilled by mosaic panel."
Created: 11 Dec 2019, 8:22 p.m. | Last Modified: 11 Dec 2019, 8:22 p.m.
Panel Version: 0.38

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Publications

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, 12:05 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Details

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

History Filter Activity

11 Dec 2019, Gel status: 0

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: gnaq has been removed from the panel.

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 Vascular skin disorders. 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