IUGR and IGF abnormalities

Gene: ERCC8

Green List (high evidence)

ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000049167
EnsemblGeneIds (GRCh37): ENSG00000049167
OMIM: 609412, Gene2Phenotype
ERCC8 is in 16 panels

3 reviews

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Philip Murray (University of Manchester)

Green List (high evidence)

Peter Clayton (University of Manchester)

Green List (high evidence)

History Filter Activity

3 Apr 2016, Gel status: 4

Set Mode of Inheritance

emma baple (Genomics England Curator)

Mode of inheritance for ERCC8 was changed to BIALLELIC, autosomal or pseudoautosomal

14 Mar 2016, Gel status: 4

Set Phenotypes

emma baple (Genomics England Curator)

Phenotypes for ERCC8 were set to cockayne

14 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

ERCC8 was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory