Monogenic diabetes

Gene: STAT1

No list

STAT1 (signal transducer and activator of transcription 1)
EnsemblGeneIds (GRCh38): ENSG00000115415
EnsemblGeneIds (GRCh37): ENSG00000115415
OMIM: 600555, Gene2Phenotype
STAT1 is in 8 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: Gene added to the panel as red due to expert review
Created: 15 Jun 2016, 3:31 p.m.

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 Removed
OMIM
600555
Clinvar variants
Variants in STAT1
Penetrance
None
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

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 STAT1. Rating Changed from Red List (low evidence) to No List (delete)

18 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: STAT1 was added gene: STAT1 was added to Monogenic diabetes. Sources: Expert Review Red Mode of inheritance for gene: STAT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STAT1 were set to 23534974 Mode of pathogenicity for gene: STAT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments