STAT3

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

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 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 0.121 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 1.1891	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 1.33 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 1.66 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 Hyper-IgE syndrome Level 2: Immunological disorders Version 1.5 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 Australian Genomics Health Alliance Immunology Flagship 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 0.186 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 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
Red STAT3 in CGC_86 Version 0.2	review	Other	Sources CGC_86 Phenotypes Hyper IgE Syndrome, Autosomal Dominant
Red STAT3 in TCGA_PANCAN_2018 Version 0.2	review	Other	Sources TCGA_PANCAN_2018 Phenotypes Hyper IgE Syndrome, Autosomal Dominant
Green STAT3 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 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 1.255	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 1.113	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