Combined Immunodeficiency
Gene: STAT5B

STAT5B (signal transducer and activator of transcription 5B)
EnsemblGeneIds (GRCh38): ENSG00000173757
EnsemblGeneIds (GRCh37): ENSG00000173757
OMIM: 604260, Gene2Phenotype
STAT5B is in 6 panels

2 reviews

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

Somatic GOF variants associated with early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea
Created: 28 Aug 2023, 5:28 a.m. | Last Modified: 28 Aug 2023, 5:28 a.m.

Panel Version: 1.43

Mode of inheritance
Other

Phenotypes
Eosinophilia

Publications

PMID: 27956386

Mode of pathogenicity
Other

Created: 28 Aug 2023, 5:28 a.m.
Last Modified: 28 Aug 2023, 5:28 a.m.
Panel version: 1.43

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Both bi-allelic and mono allelic (GoF) inheritance reported. AD GoF phenotype: increased IgE, growth failure, eczema but no immune defects compared to AR phenotype (modestly decreased T cells, reduced Tregs and function, hypergammaglobulinaemia, increased IgE).
Created: 4 Apr 2020, 3:27 a.m. | Last Modified: 4 Apr 2020, 3:27 a.m.

Panel Version: 0.83

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Growth hormone insensitivity with immunodeficiency, MIM# 245590

Publications

29844444

Mode of pathogenicity
Other

Created: 4 Apr 2020, 3:27 a.m.
Last Modified: 4 Apr 2020, 3:27 a.m.
Panel version: 0.83

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Growth hormone insensitivity with immunodeficiency, MIM# 245590

Tags

somatic

OMIM

604260

Clinvar variants

Variants in STAT5B

Penetrance

None

Publications

29844444

Mode of Pathogenicity

Other

Panels with this gene