Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: STAT5A

Red List (low evidence)

Not associated with primary immunodeficiency

Created: 29 Jun 2018, 3:26 p.m.

Red List (low evidence)

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

• 16418296

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.