Familial diabetes
Gene: STAT3
Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.Created: 25 Jan 2019, 11:49 a.m.
Comment on list classification: Promoted from red to green due to expert review.Created: 15 Jun 2016, 3:21 p.m.
Activating mutations in STAT3 cause this phenotypeCreated: 16 Oct 2015, 10:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Source: Expert Review Removed was removed from gene: STAT3
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for STAT3 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for STAT3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STAT3 were set to 27167055
This gene has been classified as Green List (High Evidence).
STAT3 was added to Familial diabetespanel. Sources: UKGTN