GNAQ

G protein subunit alpha q
OMIM: 600998, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Amber GNAQ in COVID-19 research


Level 2: Viral research
Version 1.130

review Unknown
Sources
  • Expert Review Amber
  • OMIM
  • Expert list

Red GNAQ in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.59
Latest signed off version: v2.2 (2 Mar 2020)

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
  • currently-ngs-unreportable
  • mosaicism

Red GNAQ in Pigmentary skin disorders


Version 1.50
Latest signed off version: v1.4 (15 Oct 2020)

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


Version 1.23
Latest signed off version: v1.3 (15 Oct 2020)

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


Version 1.49
Latest signed off version: v1.3 (15 Oct 2020)

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

Amber GNAQ in Fetal anomalies


Version 1.905
Latest signed off version: v1.92 (21 Aug 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Congenital Hemangioma
Tags
  • mosaicism

Amber GNAQ in DDG2P


Version 2.78
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • Congenital Hemangioma
    Tags
    • mosaicism

    Green GNAQ in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.572
    Latest signed off version: v2.2 (13 Feb 2020)

    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

    Red GNAQ in Severe Paediatric Disorders


    Version 1.127

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Red
    • Expert list
    Phenotypes
    • Periodontitis, susceptibility to