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  3. STAT6
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Disorders of immune dysregulation

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532

Created: 7 Oct 2023, 2:39 a.m.
Last Modified: 7 Oct 2023, 2:39 a.m.
Panel version: 0.180

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

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: Literature
Created: 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

Created: 7 Feb 2023, 4:12 a.m.
Last Modified: 15 Feb 2023, 10:29 p.m.
Panel version: 0.164

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532
OMIM
601512
Clinvar variants
Variants in STAT6
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

7 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Oct 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: STAT6 were set to PMID: 36216080

18 Feb 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Feb 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STAT6 were changed from early-onset multiorgan allergies to Allergic disease, MONDO:0005271, STAT6-related; early-onset multiorgan allergies

18 Feb 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Feb 2023, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

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