Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: C8A

Green List (high evidence)

agree with green gene

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Green List (high evidence)

YES- this is covered on our targeted exome

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Susceptibility to invasive bacterial infection, especially meningococcal

Publications

• 9759902

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): C8A .PanelApp HGNC gene symbol check: C8A . IUIS Disease: C8a deficiency . IUIS Inheritance: AR .T cells: Nl to low, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Disseminated neisserial infections. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A

Created: 2 Jul 2018, 10:35 a.m.

Comment on list classification: Changed Amber to Green from external review comment and further publications to support gene-disease association

Created: 20 Jun 2018, 3:51 p.m.

Comment on phenotypes: Added phenotypes suggested from external expert review.

Created: 20 Jun 2018, 3:51 p.m.

Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green

Created: 20 Jun 2018, 3:49 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 downloaded from ESID Registry. ESID_Gene_original: C8A, PanelApp HGNC gene symbol check: C8A, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Complement deficiency / Complement component 8 deficiency

Created: 17 Apr 2018, 12:29 p.m.

Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: C8A, GRID_Gene_Symbol: C8A, GRID_Transcript_ENS_Community submitted: ENST00000361249, GRID_Transcript_RefSeq: NM_000562.2, GRID_Transcript_ENS_used_on_Production: ENST00000361249

Created: 17 Apr 2018, 12:12 p.m.