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Hydroa vacciniforme

Gene: ERCC6

Red List (low evidence)

ERCC6 (ERCC excision repair 6, chromatin remodeling factor)
EnsemblGeneIds (GRCh38): ENSG00000225830
EnsemblGeneIds (GRCh37): ENSG00000225830
OMIM: 609413, Gene2Phenotype
ERCC6 is in 24 panels

1 review

Ellen Thomas (Genomics England Curator)

Comment when marking as ready: This gene doesn't fit with this phenotype. There have been a couple of reported cases with a mild Cockayne-type phenotype with mutations in ERCC6, but there is insufficient evidence to use this for diagnostic testing.
Created: 29 Jan 2016, 5:32 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 ()

ERCC6 was added to Hydroa Vacciniforme panel. Sources: Radboud University Medical Center, Nijmegen