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  2. Susceptibility to Fungal Infections
  3. STAT3
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Susceptibility to Fungal Infections

Gene: STAT3

Green List (high evidence)
STAT3 (signal transducer and activator of transcription 3)
EnsemblGeneIds (GRCh38): ENSG00000168610
EnsemblGeneIds (GRCh37): ENSG00000168610
OMIM: 102582, Gene2Phenotype
STAT3 is in 14 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 recurrent infection syndrome , MIM#147060

Created: 26 Jul 2022, 4:33 a.m.
Last Modified: 26 Jul 2022, 4:33 a.m.
Panel version: 1.2

Peter McNaughton (Queensland Children's Hospital)

Mucocutaneous candida in 85% of STAT3-LOF
Sources: Literature
Created: 25 Jul 2022, 12:25 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mucocutaneous candidiasis

Publications

Mode of pathogenicity
Other

Created: 25 Jul 2022, 12:25 a.m.

Panel version: 1.0

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyper-IgE recurrent infection syndrome , MIM#147060
  • Mucocutaneous candidiasis
OMIM
102582
Clinvar variants
Variants in STAT3
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

26 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stat3 has been classified as Green List (High Evidence).

26 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STAT3 were changed from Mucocutaneous candidiasis to Hyper-IgE recurrent infection syndrome , MIM#147060; Mucocutaneous candidiasis

26 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stat3 has been classified as Green List (High Evidence).

25 Jul 2022, 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: STAT3 was added gene: STAT3 was added to Susceptibility to Fungal Infections. Sources: Literature Mode of inheritance for gene: STAT3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: STAT3 were set to PMID: 30185668; PMID: 22751495 Phenotypes for gene: STAT3 were set to Mucocutaneous candidiasis Mode of pathogenicity for gene: STAT3 was set to Other