Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: STAT1Comment on mode of pathogenicity: Gain of function variants associated with phenotype Immunodeficiency 31C, autosomal dominant 614162, which is most relevant to this panelCreated: 6 Mar 2017, 9:26 a.m.
Comment on phenotypes: Immunodeficiency 31C, autosomal dominant 614162 appears to be most relevant to this panelCreated: 6 Mar 2017, 9:24 a.m.
Comment on list classification: Phenotype consistentCreated: 13 Oct 2016, 8:56 p.m.
Comment on list classification: High level of evidence for association with immunodeficiency, unsure whether this should be included for this panel.Created: 13 Oct 2016, 2:34 p.m.
Publications for STAT1 were set to 28258222
Mode of pathogenicity for STAT1 was changed to Other - please provide details in the comments
Phenotypes for STAT1 were set to IPEX-like; Immunodeficiency 31A, mycobacteriosis, autosomal dominant 614892; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive 613796; Immunodeficiency 31C, autosomal dominant 614162
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Mode of inheritance for STAT1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
STAT1 was created by ellenmcdonagh
STAT1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list