Genes in panel
STRs in panel
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COVID-19 research

Gene: STAT5A

Red List (low evidence)

STAT5A (signal transducer and activator of transcription 5A)
EnsemblGeneIds (GRCh38): ENSG00000126561
EnsemblGeneIds (GRCh37): ENSG00000126561
OMIM: 601511, Gene2Phenotype
STAT5A is in 2 panels

3 reviews

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Not associated with primary immunodeficiency
Created: 29 Jun 2018, 3:26 p.m.

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

April 2020
- no association with any human disease phenotype in OMIM (page last updated Feb 2020).
- no associations in Gene2Phenotype.
- PubMed search - no publications describing reports of variants in STAT5 and PID/viral susceptibility but :

PMID: 26541527- Leahy et al 2016 - mention that STAT5 mRNA (which is in the IL-15 pathway) is differentially expressed in children with severe bronchiolitis compared with those with moderate severity bronchiolitis.
PMID: 23593005- Hong et al 2013 - in human papillomavirus (HPV) infections STAT-5 is activated as part of the process to regulate genome amplification in suprabasal cells.
PMID: 22520852 - Li et al - show in mouse studies that tetramerization of STAT5 is critical for cytokine responses and normal immune function
Created: 6 Apr 2020, 11:31 a.m. | Last Modified: 6 Apr 2020, 11:31 a.m.
Panel Version: 0.49
No association of this gene in OMIM with any disorders in human. From studies in mice, Yao et al. (2006) (PMID: 16418296) found that Stat5 -/- mice (Stat5a and Stat5b deleted) died before or shortly after birth. Examination of day-18.5 Stat5 -/- embryos showed a severe combined immunodeficiency. No evidence of disease association in Gene2Phenotype
Created: 2 May 2018, 10:06 a.m.

Publications

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Changed from Amber to Red, no published cases of immunodeficiency to date. Red review from external expert review. Referred back to Victorian Clinical Genetics Services for evidences.
Created: 5 Jul 2018, 12:40 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s)
GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 19 Apr 2018, 2:08 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: STAT5, PanelApp HGNC gene symbol check: STAT5A, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiency; Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiency; Phagocytic disorders / Defects with susceptibility to mycobacterial infection (MSMD) / Defects with susceptibility to mycobacterial infection (MSMD)
Created: 17 Apr 2018, 12:29 p.m.

Details

Mode of Inheritance
Unknown
Sources
Phenotypes
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Combined immunodeficiency
OMIM
601511
Clinvar variants
Variants in STAT5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Apr 2020, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: STAT5A were set to 16418296

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: STAT5A was added gene: STAT5A was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117,GOSH PID v.8.0 Mode of inheritance for gene: STAT5A was set to Unknown Publications for gene: STAT5A were set to 16418296 Phenotypes for gene: STAT5A were set to Defects with susceptibility to mycobacterial infection (MSMD); Combined immunodeficiency