Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: ERCC3

Red List (low evidence)

not linked to immunodeficiency as far as I am aware

Created: 29 Jun 2018, 1:47 p.m.

Trichothiodystrophy / XP: DNA repair - short, microcephaly, delay, ectodermal features with photosensitivity. Omim 2 sibs in a consang family Jan 17 - amber association, relevant phenotype?)

Created: 26 Sep 2019, 3:52 p.m. | Last Modified: 26 Sep 2019, 3:52 p.m.

Panel Version: 1.130

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 only enough evidence to rate this gene Red

Created: 26 Sep 2019, 2:54 p.m. | Last Modified: 26 Sep 2019, 2:54 p.m.

Panel Version: 1.127

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 only enough evidence to rate this gene Red

Created: 26 Sep 2019, 2:54 p.m. | Last Modified: 26 Sep 2019, 2:54 p.m.

Panel Version: 1.127

Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019

Created: 26 Sep 2019, 2:53 p.m. | Last Modified: 26 Sep 2019, 2:53 p.m.

Panel Version: 1.127

Comment on list classification: Changed from Amber to Red until more info on gene and disease association, request evidences / immunological association of this gene from Victorian Clinical Genetics Services. Gene not present on any other PID related panels or within ESID or IUIS classifications

Created: 3 Jul 2018, 10:37 a.m.

Comment on list classification: 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 from Victorian Clinical Genetics Services. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1. No disorder or MOI was listed in the submitted list.

Created: 26 Jun 2018, 12:46 p.m.