Pigmentary skin disorders

Gene: GNAQ

Red List (low evidence)

GNAQ (G protein subunit alpha q)
EnsemblGeneIds (GRCh38): ENSG00000156052
EnsemblGeneIds (GRCh37): ENSG00000156052
OMIM: 600998, Gene2Phenotype
GNAQ is in 7 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Red List (low evidence)

Removed - test not fit for purpose as only v.low level mosaicism. To be fulfilled by mosaic panel.
Created: 12 Dec 2019, 12:23 p.m. | Last Modified: 12 Dec 2019, 12:23 p.m.
Panel Version: 0.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Phakomatosis pigmentovascularis; Extensive dermal melanocytosis; Sturge Weber syndrome

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, 11:31 a.m.

Details

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

History Filter Activity

12 Dec 2019, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Catherine Snow (Genomics England)

Source Expert Review Red was added to GNAQ. Added phenotypes Sturge Weber syndrome; Extensive dermal melanocytosis; Phakomatosis pigmentovascularis for gene: GNAQ Rating Changed from Green List (high evidence) to Red List (low evidence)

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 Pigmentary 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