Gastrointestinal epithelial barrier disorders
Gene: STAT1Comment on list classification: Given the previous reviews and internal clinical review, it appears as though the phenotypes linked to variants in this gene are predominantly immunological and therefore this gene will be classed as amber.Created: 25 Jul 2018, 4:19 p.m.
Comment 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.
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
Gene: stat1 has been classified as Amber List (Moderate Evidence).
STAT1 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list
STAT1 was created by Olivia Niblock