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  2. Combined Immunodeficiency
  3. STAT6
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Combined Immunodeficiency

Gene: STAT6

Green List (high evidence)
STAT6 (signal transducer and activator of transcription 6)
EnsemblGeneIds (GRCh38): ENSG00000166888
EnsemblGeneIds (GRCh37): ENSG00000166888
OMIM: 601512, Gene2Phenotype
STAT6 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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 list
Created: 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

Created: 10 Nov 2024, 8:20 a.m.

Panel version: 1.99

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • hyper-IgE syndrome MONDO:0018037
OMIM
601512
Clinvar variants
Variants in STAT6
Penetrance
None
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
Panels with this gene

History Filter Activity

10 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: stat6 has been classified as Green List (High Evidence).

10 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: stat6 has been classified as Green List (High Evidence).

10 Nov 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

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