Monogenic diabetes

Gene: STAT3

No list

STAT3 (signal transducer and activator of transcription 3)
EnsemblGeneIds (GRCh38): ENSG00000168610
EnsemblGeneIds (GRCh37): ENSG00000168610
OMIM: 102582, Gene2Phenotype
STAT3 is in 15 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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
Phenotypes
  • Neonatal diabetes and additional multi-organ autoimmunity
OMIM
102582
Clinvar variants
Variants in STAT3
Penetrance
None
Publications
  • 27167055
  • Flanagan et al 2014 Nature Genetics (In press)
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 0

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Gene changed to grey status af

25 Jan 2019, Gel status: 0

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Removed was added to STAT3. Rating Changed from Green List (high evidence) to No List (delete)

18 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

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)

18 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

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