Familial 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 16 panels

3 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review.
Created: 15 Jun 2016, 3:21 p.m.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

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

History Filter Activity

15 Jun 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).

15 Jun 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

15 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for STAT3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

15 Jun 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for STAT3 were set to 27167055

15 Jun 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).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

STAT3 was added to Familial diabetespanel. Sources: UKGTN