Diabetes with additional phenotypes suggestive of a monogenic aetiology

Gene: STAT1

Red List (low evidence)

STAT1 (signal transducer and activator of transcription 1)
EnsemblGeneIds (GRCh38): ENSG00000115415
EnsemblGeneIds (GRCh37): ENSG00000115415
OMIM: 600555, Gene2Phenotype
STAT1 is in 8 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added to the panel as red due to expert review.
Created: 23 Aug 2016, 12:09 p.m.
Activating mutations cause an IPEX-like phenotype
- Comment from Sian Ellard (University of Exeter Medical School), Oct. 16, 2015, 10:09 a.m on the Familial Diabetes panel version 0.
Created: 23 Aug 2016, 12:09 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Sian Ellard (University of Exeter Medical School)

Red List (low evidence)

Activating mutations cause an IPEX-like phenotype
Created: 16 Oct 2015, 9:09 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
OMIM
600555
Clinvar variants
Variants in STAT1
Penetrance
Complete
Publications
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

23 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 Aug 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

STAT1 was created by ellenmcdonagh

23 Aug 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

STAT1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Expert Review