STAT2

signal transducer and activator of transcription 2
OMIM: 600556, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red STAT2 in Generalised pustular psoriasis

Level 3: Autoimmune skin disorders
Level 2: Dermatological disorders
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Immunodeficiency 44 616636

Green STAT2 in COVID-19 research


Level 2: Viral research
Version 1.80

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • STAT2 deficiency
  • Predisposition to several viral infection
  • Severe viral infections (disseminated vaccine-strain measles)
  • Defects in Intrinsic and Innate Immunity
  • Immunodeficiency 44, 616636

Green STAT2 in Primary immunodeficiency


Version 2.478
Latest signed off version: v2.1 (24 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • STAT2 deficiency
  • Predisposition to several viral infection
  • Immunodeficiency 44, 616636
  • Severe viral infections (disseminated vaccine-strain measles)
  • Defects in Intrinsic and Innate Immunity

Amber STAT2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.486

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Immunodeficiency 44 616636

Amber STAT2 in Inborn errors of metabolism


Version 2.187
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Immunodeficiency 44 616636
    • elongated mitochondria
    • severe neurological deterioration following viral infection

    Red STAT2 in Possible mitochondrial disorder - nuclear genes


    Version 1.53
    Latest signed off version: v1.17 (11 Nov 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Immunodeficiency 44, 616636

    Red STAT2 in DDG2P


    Version 2.49
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • Recessive gain of function causing increased interferon signalling
    • Viral induced severe multiorgan dysfunction associated with impaired mitochondrial fission

    Red STAT2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.54
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Expert list
    Phenotypes
    • severe neurological deterioration following viral infection
    • elongated mitochondria
    • Immunodeficiency 44, 616636

    Green STAT2 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency 44, 616636