Gastrointestinal epithelial barrier disorders
Gene: STAT1
STAT1 (signal transducer and activator of transcription 1)
EnsemblGeneIds (GRCh38): ENSG00000115415
EnsemblGeneIds (GRCh37): ENSG00000115415
OMIM: 600555, Gene2Phenotype
STAT1 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000115415
EnsemblGeneIds (GRCh37): ENSG00000115415
OMIM: 600555, Gene2Phenotype
STAT1 is in 9 panels
5 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: Given the previous reviews and internal clinical review, it appears as though the phenotypes linked to variants in this gene are predominantly immunological and therefore this gene will be classed as amber.Created: 25 Jul 2018, 4:19 p.m.
Sarah Leigh (Genomics England Curator)
Comment on mode of pathogenicity: Gain of function variants associated with phenotype Immunodeficiency 31C, autosomal dominant 614162, which is most relevant to this panelCreated: 6 Mar 2017, 9:26 a.m.
Comment on phenotypes: Immunodeficiency 31C, autosomal dominant 614162 appears to be most relevant to this panelCreated: 6 Mar 2017, 9:24 a.m.
Richard Scott (Genomics England Curator)
Comment on list classification: Phenotype consistentCreated: 13 Oct 2016, 8:56 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: High level of evidence for association with immunodeficiency, unsure whether this should be included for this panel.Created: 13 Oct 2016, 2:34 p.m.
Neil shah (GOSH)
Details
- Sources
-
- Expert Review Amber
- Expert list
- OMIM
- 600555
- Clinvar variants
- Variants in STAT1
- Penetrance
- None
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Monogenic diabetes
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Familial diabetes
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
History Filter Activity
25 Jul 2018, Gel status: 2
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
25 Jul 2018, Gel status: 2
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: stat1 has been classified as Amber List (Moderate Evidence).
17 Apr 2018, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)STAT1 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list
17 Apr 2018, Gel status: 1
Created
Olivia Niblock (Genomics England Curator)STAT1 was created by Olivia Niblock