Genes in panel
STRs in panel
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COVID-19 research

Gene: ERCC2

Red List (low evidence)

ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit)
EnsemblGeneIds (GRCh38): ENSG00000104884
EnsemblGeneIds (GRCh37): ENSG00000104884
OMIM: 126340, Gene2Phenotype
ERCC2 is in 18 panels

2 reviews

Sophie Hambleton (Newcastle University)

Red List (low evidence)

A single case report links this gene to an immune phenotype to my knowledge
Created: 29 Jun 2018, 1:46 p.m.

Publications

Louise Daugherty (Genomics England Curator)

Trichothiodystrophy / XP: DNA repair - short, microcephaly, delay, ectodermal features and recurrent infections - green association, probably a 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, 2:51 p.m. | Last Modified: 26 Sep 2019, 2:51 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


Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019
Created: 26 Sep 2019, 2:51 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, only one case, request evidences from Victorian Clinical Genetics Services. Gene not present on any other PID related panels or within ESID or IUIS classifications.
Created: 3 Jul 2018, 10:31 a.m.
Comment on phenotypes: Added phenotypes from Racioppi L. et al. (2001) PMID: 11737070.
Created: 3 Jul 2018, 10:28 a.m.
Comment on publications: XPD is previous gene symbol for ERCC2
Created: 3 Jul 2018, 10:25 a.m.
Comment on publications: Added publication suggested from external expert review to support immunological phenotype. Noted that only one case reported to date Racioppi L. et al. (2001) PMID: 11737070.
Created: 3 Jul 2018, 10:25 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, 12:47 p.m.

History Filter Activity

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ERCC2 was added gene: ERCC2 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,North West GLH,Other,NHS GMS,London North GLH,Expert Review Red Mode of inheritance for gene: ERCC2 was set to Unknown Publications for gene: ERCC2 were set to 11737070 Phenotypes for gene: ERCC2 were set to Combined immunodeficiency (CID) in a child affected by trichothiodystrophy (TTD); CD4 + lymphopenia