Genomics England
GMS Panels
Panels
Genes and Entities

GNAQ

G protein subunit alpha q
OMIM: 600998
PanelMode of inheritanceDetails
2 panels
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Sturge-Weber syndrome, somatic, mosaic, OMIM:185300
Green
in Mosaic skin disorders - deep sequencing
R-numbers: R327
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Phakomatosis pigmentovascularis, Extensive dermal melanocytosis, Sturge-Weber syndrome, somatic, mosaic, OMIM:185300