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Intellectual disability syndromic and non-syndromic

Gene: GNAQ

Amber List (moderate evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

ID can be part of the phenotype; however this condition is due to somatic mosaic gain of function variants so there may be issues with detection depending on tissue used and sequencing depth.
Created: 4 Dec 2019, 10:36 a.m. | Last Modified: 4 Dec 2019, 10:36 a.m.
Panel Version: 0.291

Mode of inheritance
Other

Phenotypes
Sturge-Weber syndrome, somatic, mosaic, MIM#185300

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Sturge-Weber syndrome, somatic, mosaic, MIM#185300
Tags
somatic
OMIM
600998
Clinvar variants
Variants in GNAQ
Penetrance
None
Panels with this gene

History Filter Activity

6 Feb 2020, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag somatic tag was added to gene: GNAQ.

4 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnaq has been classified as Amber List (Moderate Evidence).

4 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GNAQ were changed from to Sturge-Weber syndrome, somatic, mosaic, MIM#185300

4 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnaq has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNAQ was added gene: GNAQ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GNAQ was set to Unknown