Genes in panel
STRs in panel
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Primary immunodeficiency

Gene: IL18

Red List (low evidence)

IL18 (interleukin 18)
EnsemblGeneIds (GRCh38): ENSG00000150782
EnsemblGeneIds (GRCh37): ENSG00000150782
OMIM: 600953, Gene2Phenotype
IL18 is in 3 panels

2 reviews

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Louise Daugherty (Genomics England Curator)

I don't know

External expert review notes Red status so I have kept this gene Red on this panel
Created: 12 Jun 2018, 4:42 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: IL18, PanelApp HGNC gene symbol check: IL18, ESID classification: Main_category/ Sub_category/ PID_Diagnosis 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

Sources
  • Expert Review Red
  • ESID Registry 20171117
Phenotypes
  • Defects with susceptibility to mycobacterial infection (MSMD)
OMIM
600953
Clinvar variants
Variants in IL18
Penetrance
None
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.

12 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: il18 has been classified as Red List (Low Evidence).

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

IL18 was added to Primary immunodeficiency disorders panel. Sources: ESID Registry 20171117

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

IL18 was created by Louise Daugherty