Diabetes with additional phenotypes suggestive of a monogenic aetiology
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
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)
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
- 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
-
- 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
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