Familial diabetes
Gene: STAT1
STAT1 (signal transducer and activator of transcription 1)
EnsemblGeneIds (GRCh38): ENSG00000115415
EnsemblGeneIds (GRCh37): ENSG00000115415
OMIM: 600555, Gene2Phenotype
STAT1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000115415
EnsemblGeneIds (GRCh37): ENSG00000115415
OMIM: 600555, Gene2Phenotype
STAT1 is in 10 panels
3 reviews
Ivone Leong (Genomics England Curator)
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 reviewCreated: 15 Jun 2016, 3:31 p.m.
Sian Ellard (University of Exeter Medical School)
Activating mutations cause an IPEX-like phenotypeCreated: 16 Oct 2015, 9:09 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- 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
-
- Monogenic diabetes
- Childhood interstitial lung disease
- Intellectual disability
- COVID-19 research
- Gastrointestinal epithelial barrier disorders
- Fetal anomalies
- Familial diabetes
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
11 Feb 2021, Gel status: 1
Clear Sources
Eleanor Williams (Genomics England Curator)Source: Expert Review Removed was removed from gene: STAT1
28 Jun 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).
15 Jun 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).
16 Oct 2015, Gel status: 0
Added New Source
Sian Ellard (University of Exeter Medical School)STAT1 was added to Familial diabetespanel. Sources: Expert Review