STAT2

signal transducer and activator of transcription 2
OMIM: 600556, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red STAT2 in Generalised pustular psoriasis Level 3: Autoimmune skin disorders Level 2: Dermatological disorders Version 1.12	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Immunodeficiency 44 616636
Green STAT2 in COVID-19 research Level 2: Viral research Version 1.141	review	BIALLELIC, 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 Phenotypes STAT2 deficiency Predisposition to several viral infection Severe viral infections (disseminated vaccine-strain measles) Defects in Intrinsic and Innate Immunity Immunodeficiency 44, 616636
Green STAT2 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, 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 Phenotypes STAT2 deficiency Predisposition to several viral infection Immunodeficiency 44, 616636 Severe viral infections (disseminated vaccine-strain measles) Defects in Intrinsic and Innate Immunity
Amber STAT2 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Immunodeficiency 44 616636
Amber STAT2 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 44 616636 elongated mitochondria severe neurological deterioration following viral infection
Red STAT2 in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Immunodeficiency 44, 616636
Red STAT2 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Recessive gain of function causing increased interferon signalling Viral induced severe multiorgan dysfunction associated with impaired mitochondrial fission
Red STAT2 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.168 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Expert list Phenotypes severe neurological deterioration following viral infection elongated mitochondria Immunodeficiency 44, 616636
Green STAT2 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Immunodeficiency 44, 616636