Gastrointestinal epithelial barrier disorders
Gene: STAT3Comment on list classification: Expert review and literature suggests that individuals with variants in this gene present with gastrointestinal phenotypes in addition to other immunological features as a part of Autoimmune disease, multisystem, infantile-onset, 1Created: 26 Jul 2018, 1:14 p.m.
Comment on mode of pathogenicity: Missense variants reported in OMIM for Autoimmune disease, multisystem, infantile-onset, 1 cases.Created: 13 Oct 2016, 2:42 p.m.
Comment on list classification: Promoted from red to green due to expert review. Multiple case reports for autoimmune disease, multisystem, infantile-onset, 1 in OMIM.Created: 13 Oct 2016, 2:40 p.m.
Comment on mode of pathogenicity: Gain of function - Flanagan SE, Haapaniemi E, Russell MA, et al . Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. Nat Genet 2014;46(8):812-814.Created: 12 May 2016, 1:11 p.m.
Gene: stat3 has been classified as Green List (High Evidence).
Mode of inheritance for gene: STAT3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
Other was added to STAT3. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene STAT3 were set to Crohn disease
STAT3 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list
STAT3 was created by Olivia Niblock