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DDG2P

Gene: GNAQ

Amber List (moderate evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Mosaicism tag added: In DD-G2P download, mosaic MOI listed for Congenital Hemangioma.
Created: 19 Nov 2018, 1:25 p.m.
Original DDG2P rating: probable. DDG2P mode of pathogenicity: activating. Mosaic MOI listed in DD-G2P download.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • Congenital Hemangioma
Tags
mosaicism
OMIM
600998
Clinvar variants
Variants in GNAQ
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag mosaicism tag was added to gene: GNAQ.

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: GNAQ was added gene: GNAQ was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAQ were set to 27058448 Phenotypes for gene: GNAQ were set to Congenital Hemangioma Mode of pathogenicity for gene: GNAQ was set to Other - please provide details in the comments