Severe multi-system atopic disease with high IgE
Gene: STAT3EnsemblGeneIds (GRCh38): ENSG00000168610
EnsemblGeneIds (GRCh37): ENSG00000168610
OMIM: 102582, Gene2Phenotype
STAT3 is in 17 panels
1 review
Ellen Thomas (Genomics England Curator)
Comment on mode of pathogenicity: This is a dominant negative gain-of-function mechanism; causative variants are missense or single codon indels.Created: 19 Dec 2016, 1:45 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Hyper IgE Syndrome
- Hyper IgE syndromes
- Hyper-IgE recurrent infection syndrome, 147060
- OMIM
- 102582
- Clinvar variants
- Variants in STAT3
- Penetrance
- Complete
- 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
-
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Familial pulmonary fibrosis
- Haematological malignancies cancer susceptibility
- COVID-19 research
- Familial diabetes
- Severe multi-system atopic disease with high IgE
- Neonatal diabetes
- Haematological malignancies for rare disease
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Familial Meniere Disease
History Filter Activity
panel promoted to version 1
Ellen Thomas (Genomics England Curator)Literature search, UKGTN search - no other genes identified for Hyper-IgE syndrome
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set mode of pathogenicity
Ellen Thomas (Genomics England Curator)Mode of pathogenicity for STAT3 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for STAT3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
GEL ()STAT3 was added to Severe multi-system atopic disease with high IgEpanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()STAT3 was added to Severe multi-system atopic disease with high IgEpanel. Sources: UKGTN
Added New Source
GEL ()STAT3 was added to Severe multi-system atopic disease with high IgEpanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()STAT3 was added to Severe multi-system atopic disease with high IgEpanel. Sources: Illumina TruGenome Clinical Sequencing Services