Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: STAT5A
Not associated with primary immunodeficiencyCreated: 29 Jun 2018, 3:26 p.m.
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 Gene2PhenotypeCreated: 2 May 2018, 10:06 a.m.
Publications
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.
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Gene: stat5a has been classified as Red List (Low Evidence).
Publications for gene: STAT5A were set to 16418296
Gene: stat5a has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
ESID Registry 20171117 was added to STAT5A. Panel: Primary immunodeficiency disorders Phenotypes for gene STAT5A were set to Combined immunodeficiency, Defects with susceptibility to mycobacterial infection (MSMD)
STAT5A Source: GOSH PID 20171196 was removed from gene: STAT5A
GOSH PID v.8.0 was added to STAT5A. Panel: Primary immunodeficiency disorders
STAT5A was added to Primary immunodeficiency disorders panel. Sources: GOSH PID 20171196
STAT5A was created by Louise Daugherty