Disorders of immune dysregulation
Gene: STAT6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532
Report of another child with severe atopic dermatitis, eosinophilia and elevated IgE with extensive functional data.Created: 15 Feb 2023, 10:35 p.m. | Last Modified: 15 Feb 2023, 10:35 p.m.
Panel Version: 0.164
STAT6 gain-of-function variant associated with early-onset multiorgan allergies in a family with
3 affected members, extensive functional data to support mechanism of allergic disease.
Sources: LiteratureCreated: 7 Feb 2023, 4:12 a.m. | Last Modified: 15 Feb 2023, 10:29 p.m.
Panel Version: 0.164
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
early-onset multiorgan allergies
Publications
Mode of pathogenicity
Other
Phenotypes for gene: STAT6 were changed from Allergic disease, MONDO:0005271, STAT6-related; early-onset multiorgan allergies to Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532
Publications for gene: STAT6 were set to PMID: 36216080
Gene: stat6 has been classified as Green List (High Evidence).
Phenotypes for gene: STAT6 were changed from early-onset multiorgan allergies to Allergic disease, MONDO:0005271, STAT6-related; early-onset multiorgan allergies
Gene: stat6 has been classified as Green List (High Evidence).
gene: STAT6 was added gene: STAT6 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: STAT6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STAT6 were set to PMID: 36216080 Phenotypes for gene: STAT6 were set to early-onset multiorgan allergies Mode of pathogenicity for gene: STAT6 was set to Other Review for gene: STAT6 was set to AMBER