Genomics England
GMS Panels
Panels
Genes and Entities

GNAQ

G protein subunit alpha q
OMIM: 600998
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Congenital Hemangioma
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
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 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Phakomatosis pigmentovascularis, Extensive dermal melanocytosis, Sturge-Weber syndrome, somatic, mosaic, OMIM:185300