STAT1

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

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green STAT1 in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.121

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green STAT1 in Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 1.0

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892
    • Childhood bronchiectasis

    Green STAT1 in Mendeliome


    Version 1.1891

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892
    • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796
    • Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, MIM# 614162

    Green STAT1 in Mendelian susceptibility to Immune Disorders


    Level 2: Immunological disorders
    Version 0.49

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review Unknown
    Sources
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green STAT1 in Defects of innate immunity


    Level 2: Immunological disorders
    Version 0.134

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review Unknown
    Sources
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green STAT1 in Susceptibility to Fungal Infections


    Level 2: Immunological disorders
    Version 1.7

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 31C, autosomal dominant, MIM# 614162
    • Predisposition to Mucocutaneous Candidiasis

    Green STAT1 in Susceptibility to Viral Infections


    Level 2: Immunological disorders
    Version 0.117

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796

    Green STAT1 in Immune_markers_WTS_UMCCR


    Level 2: Cancer
    Version 0.75

    review Unknown
    Sources
    • Expert list
    • Expert Review Green
    Tags
    • umccr

    Amber STAT1 in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.134

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599

    Green STAT1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3)

    Green STAT1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3)

    Green STAT1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796
    Tags
    • treatable
    • immunological