Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: STAT3
Comment on mode of pathogenicity: "Activating mutations in STAT3 cause this phenotype" -
Sian Ellard (University of Exeter Medical School), Oct. 16, 2015, 11:34 a.m.Created: 22 Jul 2016, 12:16 p.m.
Comment on list classification: Promoted from red to green due to expert review.Created: 22 Jul 2016, 12:15 p.m.
25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
This gene has been classified as Green List (High Evidence).
Publications for STAT3 were set to Flanagan et al 2014 Nature Genetics (In press); 27167055
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 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
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene STAT3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene STAT3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
STAT3 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN