GNAQ

G protein subunit alpha q
OMIM: 600998
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Sturge-Weber syndrome, somatic, mosaic, 185300
R-numbers: R327
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Phakomatosis pigmentovascularis, Extensive dermal melanocytosis, Sturge Weber syndrome