Multi-organ autoimmune diabetes
Gene: STAT3
Gain of function variants leading to variable autoimmune manifestations including T1DM.Created: 18 Jan 2020, 6:49 a.m. | Last Modified: 18 Jan 2020, 6:49 a.m.
Panel Version: 1.7
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Mode of pathogenicity
Other
Comment on list classification: Promoted due to expert review.Created: 22 Jul 2016, 3:11 p.m.
Gain of functionCreated: 8 Dec 2015, 2:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: STAT3 were set to
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.
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
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for STAT3 was changed to Other - please provide details in the comments
This gene has been classified as Green List (High Evidence).
STAT3 was added to Multi-organ autoimmune diabetespanel. Sources: UKGTN