GNAQ

G protein subunit alpha q
OMIM: 600998, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber GNAQ in COVID-19 research Level 2: Viral research Version 1.146	review	Unknown	Sources Expert Review Amber OMIM Expert list
Red GNAQ in Cerebral vascular malformations Level 2: Neurology Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	review	Not set	Sources Yorkshire and North East GLH NHS GMS Expert Review Red Radboud University Medical Center, Nijmegen Other Phenotypes Cerebral diseases of vascular origin with epilepsy Capillary malformations, congenital, 1, somatic, mosaic, 163000 Tags mosaicism currently-ngs-unreportable
Red GNAQ in Pigmentary skin disorders Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Phenotypes Sturge Weber syndrome Extensive dermal melanocytosis Phakomatosis pigmentovascularis
Green GNAQ in Mosaic skin disorders - deep sequencing Level 2: Dermatology Version 3.27 Latest signed off version: v3.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Phakomatosis pigmentovascularis Extensive dermal melanocytosis Sturge-Weber syndrome, somatic, mosaic, OMIM:185300
No list GNAQ in Vascular skin disorders Level 2: Dermatology Version 2.5 Latest signed off version: v2.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed London North GLH NHS GMS Phenotypes Phakomatosis pigmentovascularis Extensive dermal melanocytosis Sturge Weber syndrome Tags curated_removed
Red GNAQ in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS PAGE DD-Gene2Phenotype Phenotypes Sturge-Weber syndrome, somatic, mosaic, OMIM:185300 Capillary malformations, congenital, 1, somatic, mosaic, OMIM:163000 Tags mosaicism
Green GNAQ in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Congenital Hemangioma Tags mosaicism
Green GNAQ in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Sturge-Weber syndrome, somatic, mosaic, OMIM:185300 Tags mosaicism somatic