STAT1

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

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green STAT1 in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.43	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes IPEX-like Immunodeficiency 31A, mycobacteriosis, autosomal dominant 614892 Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive 613796 Immunodeficiency 31C, autosomal dominant 614162
Amber STAT1 in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.75	review	Not set	Sources Expert Review Amber Expert list
Green STAT1 in COVID-19 research Level 2: Viral research Version 1.141	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship 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 Immunodeficiency 31A, mycobacteriosis Combined immunodeficiency Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive 613796 Defects with susceptibility to mycobacterial infection (MSMD) Candidiasis, familial, 7 Severe viral infections, mycobacterial infection Chronic mucocutaneous candidiasis (CMC) Susceptibility to mycobacteria, Salmonella Immunodeficiency 31A, mycobacteriosis, autosomal dominant 614892 CMC, various fungal, bacterial and viral (HSV) infections, auto-immunity (thyroiditis, diabetes, cytopenias), enteropathy Immunodeficiency 31C, autosomal dominant 614162 Defects in Intrinsic and Innate Immunity
Red STAT1 in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.67	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review
Red STAT1 in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.67	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review
Green STAT1 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources 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 Immunodeficiency 31A, mycobacteriosis, autosomal dominant 614892 Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive 613796 Immunodeficiency 31C, autosomal dominant 614162 Immunodeficiency 31A, mycobacteriosis Candidiasis, familial, 7 Combined immunodeficiency Chronic mucocutaneous candidiasis (CMC) Defects with susceptibility to mycobacterial infection (MSMD) Severe viral infections, mycobacterial infection CMC, various fungal, bacterial and viral (HSV) infections, auto-immunity (thyroiditis, diabetes, cytopenias), enteropathy Susceptibility to mycobacteria, Salmonella Defects in Intrinsic and Innate Immunity
No list STAT1 in Monogenic diabetes Version 2.57 Latest signed off version: v2.2 (25 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Tags curated_removed
Red STAT1 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes STAT1 DEFICIENCY COMPLETE MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE FAMILIAL CANDIDIASIS TYPE 7
Red STAT1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 Immunodeficiency 31C, autosomal dominant, 614162
Green STAT1 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 Immunodeficiency 31C, autosomal dominant, 614162