STAT3

signal transducer and activator of transcription 3
OMIM: 102582, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Amber STAT3 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.68

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Hyper-IgE recurrent infection syndrome, MIM# 147060

Green STAT3 in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.124

Component of the following Super Panels:

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

    Green STAT3 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
    • Hyper-IgE recurrent infection syndrome MIM# 147060
    • Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952
    • Childhood bronchiectasis, interstitial lung disease or pneumatocele

    Green STAT3 in Mendeliome


    Version 1.2374

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyper-IgE recurrent infection syndrome MIM# 147060
    • Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952

    Red STAT3 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review Unknown
    Sources
    • Expert Review Red
    • Literature

    Green STAT3 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.115

    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
    • Hyper-IgE recurrent infection syndrome MIM# 147060
    • Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952

    Green STAT3 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 1.10

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952
    • Lymphoproliferation
    • solid organ autoimmunity
    • recurrent infections
    • short stature
    • eczema
    • delayed puberty
    • dental abnormalities
    • autoimmune interstitial lung disease
    • juvenile-onset arthritis
    • primary hypothyroidism

    Green STAT3 in Susceptibility to Fungal Infections


    Level 2: Immunological disorders
    Version 1.7

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hyper-IgE recurrent infection syndrome , MIM#147060
    • Mucocutaneous candidiasis

    Green STAT3 in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.137

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • STAT3-related early-onset multisystem autoimmune disease MONDO:0014414

    Green STAT3 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Hyper-IgE recurrent infection syndrome

    Green STAT3 in Growth failure


    Version 1.76

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952
    • Lymphoproliferation
    • solid organ autoimmunity
    • growth failure
    • recurrent infections
    • short stature
    • IUGR
    • eczema
    • delayed puberty
    • dental abnormalities
    • autoimmune interstitial lung disease
    • juvenile-onset arthritis
    • primary hypothyroidism

    Green STAT3 in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hyper-IgE recurrent infection syndrome - MIM#147060
    • Autoimmune disease, multisystem, infantile-onset, 1 - MIM#615952

    Green STAT3 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952
    Tags
    • treatable
    • immunological

    Green STAT3 in Autoimmune Lymphoproliferative Syndrome


    Level 2: Immunological disorders
    Version 1.0

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Autoimmune disease, multisystem, infantile-onset, 1 MIM#615952
    • STAT3-related early-onset multisystem autoimmune disease MONDO:0014414