Multi-organ autoimmune diabetes

Gene: STAT3

Green List (high evidence)

STAT3 (signal transducer and activator of transcription 3)
EnsemblGeneIds (GRCh38): ENSG00000168610
EnsemblGeneIds (GRCh37): ENSG00000168610
OMIM: 102582, Gene2Phenotype
STAT3 is in 17 panels

3 reviews

Owen Siggs (Flinders University)

Green List (high evidence)

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted due to expert review.
Created: 22 Jul 2016, 3:11 p.m.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Gain of function
Created: 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

History Filter Activity

21 Jan 2020, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: STAT3 were set to

25 Jul 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

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.

22 Jul 2016, Gel status: 4

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

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

22 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Jul 2016, Gel status: 4

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for STAT3 was changed to Other - please provide details in the comments

22 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STAT3 was added to Multi-organ autoimmune diabetespanel. Sources: UKGTN