Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: STAT1EnsemblGeneIds (GRCh38): ENSG00000115415
EnsemblGeneIds (GRCh37): ENSG00000115415
OMIM: 600555, Gene2Phenotype
STAT1 is in 9 panels
4 reviews
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
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- IPEX-like
- Immunodeficiency 31A, mycobacteriosis, autosomal dominant 614892
- Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive 613796
- Immunodeficiency 31C, autosomal dominant 614162
- OMIM
- 600555
- Clinvar variants
- Variants in STAT1
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- 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
Set publications
Sarah Leigh (Genomics England Curator)Publications for STAT1 were set to 28258222
Set mode of pathogenicity
Sarah Leigh (Genomics England Curator)Mode of pathogenicity for STAT1 was changed to Other - please provide details in the comments
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for STAT1 were set to IPEX-like; Immunodeficiency 31A, mycobacteriosis, autosomal dominant 614892; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive 613796; Immunodeficiency 31C, autosomal dominant 614162
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Set Mode of Inheritance
Richard Scott (Genomics England Curator)Mode of inheritance for STAT1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Created
Ellen McDonagh (Genomics England Curator)STAT1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)STAT1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list