STAT3

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

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green STAT3 in Severe multi-system atopic disease with high IgE

Level 3: Atopy
Level 2: Dermatological disorders
Version 1.7

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hyper IgE Syndrome
  • Hyper IgE syndromes
  • Hyper-IgE recurrent infection syndrome, 147060

Green STAT3 in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.18

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Autoimmune disease, multisystem, infantile-onset, 1

Green STAT3 in Multi-organ autoimmune diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.8

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Neonatal Diabetes

Red STAT3 in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.1

review Not set
Sources
  • Literature

Green STAT3 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Curated sources
  • Expert Review Green
Phenotypes
  • Class: familial predisp to leukaemia (typ AD)
  • paediatric large granular lymphocytic leukaemia
  • Leukaemia

Green STAT3 in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.59

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
  • Expert list
Phenotypes
  • Crohn disease

Green STAT3 in COVID-19 research


Level 2: Viral research
Version 1.69

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • IUIS Classification February 2018
  • London North GLH
  • GOSH PID v.8.0
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • 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
  • Hyper-IgE recurrent infection syndrome 147060
  • Hyper IgE syndrome (HIES)
  • Diseases of Immune Dysregulation
  • Early-onset multi-organ autoimmune disease
  • Autoimmune disease, multisystem, infantile-onset, 1 615952
  • Combined immunodeficiencies with associated or syndromic features
  • Autoimmune disease, multisystem, infantile-onset

Red STAT3 in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.13

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease

Green STAT3 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.59

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Neonatal diabetes and additional multi-organ autoimmunity

Green STAT3 in Diabetes - neonatal onset

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 2.3
Signed off v.2.2 on 19 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Neonatal diabetes and additional multi-organ autoimmunity
  • permanent neonatal diabetes
  • Neonatal diabetes and early-onset multi-organ autoimmune disease

Green STAT3 in Rare genetic inflammatory skin disorders


Version 1.7
Signed off v.1.6 on 15 Oct 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • HyperIgE syndrome
  • ADMIO1
  • HIES1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
  • HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT

Green STAT3 in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.38

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Expert Review Green
  • UKGTN

Green STAT3 in Primary immunodeficiency


Version 2.369
Signed off v.2.1 on 24 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
Phenotypes
  • Autoimmune disease, multisystem, infantile-onset, 1 615952
  • Hyper-IgE recurrent infection syndrome 147060
  • Autoimmune disease, multisystem, infantile-onset
  • Early-onset multi-organ autoimmune disease
  • Hyper IgE syndrome (HIES)
  • Combined immunodeficiencies with associated or syndromic features
  • Diseases of Immune Dysregulation
Tags
  • early-onset

Green STAT3 in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.5
Signed off v.2.2 on 18 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: familial predisp to leukaemia (typ AD)
  • paediatric large granular lymphocytic leukaemia
  • Leukaemia

No list STAT3 in Monogenic diabetes


Version 2.3
Signed off v.2.2 on 25 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
Phenotypes
  • Neonatal diabetes and additional multi-organ autoimmunity

Green STAT3 in Craniosynostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 2.15
Signed off v.2.2 on 13 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyper IgE recurrent infection syndrome 147060
  • 147060

Green STAT3 in Severe Paediatric Disorders


Version 1.19

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyper-IgE recurrent infection syndrome, 147060
  • Autoimmune disease, multisystem, infantile-onset, 1, 615952