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  3. GNAQ
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Mosaic skin disorders

Gene: GNAQ

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Extensive dermal melanocytosis; Sturge Weber syndrome; Phakomatosis pigmentovascularis

Created: 18 Feb 2021, 7:34 a.m.
Last Modified: 18 Feb 2021, 7:34 a.m.
Panel version: 0.3

Mathew Wallis (Tasmanian Clinical Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 18 Feb 2021, 6:13 a.m.
Last Modified: 18 Feb 2021, 6:13 a.m.
Panel version: 0.1

Details

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

History Filter Activity

18 Feb 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag somatic tag was added to gene: GNAQ.

18 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnaq has been classified as Green List (High Evidence).

18 Feb 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNAQ was added gene: GNAQ was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNAQ were set to 26778290 Phenotypes for gene: GNAQ were set to Extensive dermal melanocytosis; Sturge Weber syndrome; Phakomatosis pigmentovascularis