PanelApp
  1. Genes and Genomic Entities
  2. GNAQ

GNAQ

G protein subunit alpha q
OMIM: 600998, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green GNAQ in Mendeliome


Version 1.3512

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sturge-Weber syndrome, somatic, mosaic 185300
  • Capillary malformations, congenital, 1, somatic, mosaic 163000
  • Phacomatosis pigmentovascularis
Tags
  • somatic

Green GNAQ in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Sturge-Weber syndrome, somatic, mosaic 185300
    Tags
    • somatic

    Amber GNAQ in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review Unknown
    Sources
    • Expert Review Amber
    • Genetic Health Queensland
    Phenotypes
    • Sturge-Weber syndrome, somatic, mosaic, MIM#185300
    Tags
    • somatic

    Red GNAQ in Vascular Malformations_Germline


    Level 2: Cardiovascular disorders
    Version 1.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  1 review Other
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Sturge-Weber syndrome, somatic, mosaic 185300
    • Capillary malformations, congenital, 1, somatic, mosaic 163000
    • Phacomatosis pigmentovascularis
    Tags
    • somatic

    Green GNAQ in Vascular Malformations_Somatic


    Level 2: Cardiovascular disorders
    Version 1.16

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  1 review Other
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Sturge-Weber syndrome, somatic, mosaic 185300
    • Capillary malformations, congenital, 1, somatic, mosaic 163000
    • Phacomatosis pigmentovascularis
    Tags
    • somatic

    Green GNAQ in Mosaic skin disorders


    Level 2: Dermatological disorders
    Version 1.14

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • NHS GMS
    Phenotypes
    • Extensive dermal melanocytosis
    • Sturge Weber syndrome
    • Phakomatosis pigmentovascularis
    Tags
    • somatic

    Red GNAQ in Fetal anomalies


    Version 1.465

    		1 review Other
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Sturge-Weber syndrome, somatic, mosaic, MIM#185300