Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: STAT3
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.
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for STAT3 was changed to Other - please provide details in the comments
Phenotypes for STAT3 were set to Autoimmune disease, multisystem, infantile-onset, 1
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for STAT3 was changed to Other - please provide details in the comments
STAT3 was created by ellenmcdonagh
STAT3 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list