Combined Immunodeficiency
Gene: STAT6
Gain of function variants cause early-onset allergies. IUIS IEI committee classify this gene as a Combined immunodeficiency with associated or syndromic features.
Sources: Expert listCreated: 10 Nov 2024, 8:20 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hyper-IgE syndrome MONDO:0018037
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
Variants in this GENE are reported as part of current diagnostic practice
Gene: stat6 has been classified as Green List (High Evidence).
Gene: stat6 has been classified as Green List (High Evidence).
gene: STAT6 was added gene: STAT6 was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: STAT6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STAT6 were set to 36884218; 36758835 Phenotypes for gene: STAT6 were set to hyper-IgE syndrome MONDO:0018037 Mode of pathogenicity for gene: STAT6 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: STAT6 was set to GREEN gene: STAT6 was marked as current diagnostic