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Hydroa vacciniforme

Gene: ERCC8

Red List (low evidence)

ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000049167
EnsemblGeneIds (GRCh37): ENSG00000049167
OMIM: 609412, Gene2Phenotype
ERCC8 is in 19 panels

1 review

Ellen Thomas (Genomics England Curator)

Comment when marking as ready: There is one case of a mild phenotype with mutations in ERCC8 but currently insufficient evidence to use this as a diagnostic test in this condition.
Created: 29 Jan 2016, 5:38 p.m.

History Filter Activity

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

ERCC8 was added to Hydroa Vacciniforme panel. Sources: Radboud University Medical Center, Nijmegen