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  2. Primary immunodeficiency or monogenic inflammatory bowel disease
  3. IL17A
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Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: IL17A

Red List (low evidence)
IL17A (interleukin 17A)
EnsemblGeneIds (GRCh38): ENSG00000112115
EnsemblGeneIds (GRCh37): ENSG00000112115
OMIM: 603149, Gene2Phenotype
IL17A is in 2 panels

2 reviews

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Variants in this gene not associated with Mendelian disease in the published literature to date
Created: 20 Jun 2018, 7:17 p.m.
Created: 20 Jun 2018, 7:17 p.m.

Panel version: 0.1127

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Changed from Amber to Red, no evident link to mendelian immunodeficiency. red review from external expert review.
Created: 21 Jun 2018, 1:29 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: 20 Apr 2018, 12:25 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: IL17A, GRID_Gene_Symbol: IL17A, GRID_Transcript_ENS_Community submitted: ENST00000340057, GRID_Transcript_RefSeq: NM_002190.2, GRID_Transcript_ENS_used_on_Production: ENST00000340057
Created: 17 Apr 2018, 12:12 p.m.
Created: 17 Apr 2018, 12:12 p.m.

Panel version: 0.220

Details

Sources
  • Expert Review Red
  • GRID V2.0
Phenotypes
  • Immunodeficiency 5
  • Arthritis
OMIM
603149
Clinvar variants
Variants in IL17A
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.

21 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: il17a has been classified as Red List (Low Evidence).

21 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: il17a has been classified as Red List (Low Evidence).

20 Apr 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for IL17A were set to Immunodeficiency 5; Arthritis

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to IL17A. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene IL17A were set to Immunodeficiency 5, Arthritis, Arthritis

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

IL17A was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

IL17A was created by Louise Daugherty