STAT3:Ensemblv115

signal transducer and activator of transcription 3
OMIM: 102582, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green STAT3 in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green STAT3 in Interstitial Lung Disease Level 2: Respiratory disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green 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 Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green 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 Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Phenotypes Hyper-IgE recurrent infection syndrome MIM# 147060 Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952
Green STAT3 in Hyper-IgE syndrome Level 2: Immunological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Phenotypes Hyper-IgE recurrent infection syndrome MIM# 147060 NKT cells decreased Very high IgE, specific antibody production decreased Distinctive facial features (broad nasal bridge) bacterial infections staphylococcal abscesses eczema mucocutaneous candidiasis hyperextensible joints osteoporosis and bone fractures scoliosis retained primary teeth coronary and cerebral aneurysms
Green STAT3 in Disorders of immune dysregulation Level 2: Immunological disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Expert Review Green 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 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Hyper-IgE recurrent infection syndrome , MIM#147060 Mucocutaneous candidiasis
Green STAT3 in Monogenic Diabetes Level 2: Endocrine disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources UKGTN Expert Review Green Phenotypes STAT3-related early-onset multisystem autoimmune disease MONDO:0014414
Green STAT3 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category A gene Phenotypes Hyper-IgE recurrent infection syndrome
Green STAT3 in Growth failure Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green 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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952 Tags treatable immunological