STAT1

signal transducer and activator of transcription 1
OMIM: 600555, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green STAT1 in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.39

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • IPEX-like
  • Immunodeficiency 31A, mycobacteriosis, autosomal dominant 614892
  • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive 613796
  • Immunodeficiency 31C, autosomal dominant 614162

Amber STAT1 in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.73

review Not set
Sources
  • Expert Review Amber
  • Expert list

Green STAT1 in COVID-19 research


Level 2: Viral research
Version 1.130

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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
  • GOSH PID v.8.0
Phenotypes
  • Immunodeficiency 31A, mycobacteriosis
  • Combined immunodeficiency
  • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive 613796
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Candidiasis, familial, 7
  • Severe viral infections, mycobacterial infection
  • Chronic mucocutaneous candidiasis (CMC)
  • Susceptibility to mycobacteria, Salmonella
  • Immunodeficiency 31A, mycobacteriosis, autosomal dominant 614892
  • CMC, various fungal, bacterial and viral (HSV) infections, auto-immunity (thyroiditis, diabetes, cytopenias), enteropathy
  • Immunodeficiency 31C, autosomal dominant 614162
  • Defects in Intrinsic and Innate Immunity

Red STAT1 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.66

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review

Red STAT1 in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.66

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review

Green STAT1 in Primary immunodeficiency


Version 2.573
Latest signed off version: v2.1 (24 Feb 2020)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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
  • GOSH PID v.8.0
Phenotypes
  • Immunodeficiency 31A, mycobacteriosis, autosomal dominant 614892
  • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive 613796
  • Immunodeficiency 31C, autosomal dominant 614162
  • Immunodeficiency 31A, mycobacteriosis
  • Candidiasis, familial, 7
  • Combined immunodeficiency
  • Chronic mucocutaneous candidiasis (CMC)
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Severe viral infections, mycobacterial infection
  • CMC, various fungal, bacterial and viral (HSV) infections, auto-immunity (thyroiditis, diabetes, cytopenias), enteropathy
  • Susceptibility to mycobacteria, Salmonella
  • Defects in Intrinsic and Innate Immunity

No list STAT1 in Monogenic diabetes


Version 2.50
Latest signed off version: v2.2 (25 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
Tags
  • curated_removed

Red STAT1 in Fetal anomalies


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

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • STAT1 DEFICIENCY COMPLETE
  • MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE
  • FAMILIAL CANDIDIASIS TYPE 7

Red STAT1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892
    • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796
    • Immunodeficiency 31C, autosomal dominant, 614162

    Green STAT1 in Severe Paediatric Disorders


    Version 1.127

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796
    • Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892
    • Immunodeficiency 31C, autosomal dominant, 614162