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STRs in panel
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Primary immunodeficiency

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)

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
  • Expert Review Red
  • ESID Registry 20171117
  • GOSH PID v.8.0
Phenotypes
  • Combined immunodeficiency
  • Defects with susceptibility to mycobacterial infection (MSMD)
OMIM
601511
Clinvar variants
Variants in STAT5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

5 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: stat5a has been classified as Red List (Low Evidence).

5 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: STAT5A were set to 16418296

5 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: stat5a has been classified as Red List (Low Evidence).

19 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

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)

6 Apr 2018, Gel status: 1

Clear Sources

Louise Daugherty (Genomics England Curator)

STAT5A Source: GOSH PID 20171196 was removed from gene: STAT5A

6 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID v.8.0 was added to STAT5A. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

STAT5A was added to Primary immunodeficiency disorders panel. Sources: GOSH PID 20171196

29 Mar 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

STAT5A was created by Louise Daugherty