Monogenic diabetesGene: 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 phenotype
Created: 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
Ivone Leong: Gene changed to grey status af
Source Expert Review Removed was added to STAT3. Rating Changed from Green List (high evidence) to No List (delete)
Added phenotypes Neonatal diabetes and additional multi-organ autoimmunity for gene: STAT3 Publications for gene STAT3 were changed from 27167055 to 27167055; Flanagan et al 2014 Nature Genetics (In press)
gene: STAT3 was added gene: STAT3 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STAT3 were set to 27167055 Mode of pathogenicity for gene: STAT3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments