IUGR and IGF abnormalities

Gene: ERCC6

Green List (high evidence)

ERCC6 (ERCC excision repair 6, chromatin remodeling factor)
EnsemblGeneIds (GRCh38): ENSG00000225830
EnsemblGeneIds (GRCh37): ENSG00000225830
OMIM: 609413, Gene2Phenotype
ERCC6 is in 22 panels

5 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)

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added missing phenotype
22 Sep 2017, 9:41 a.m.

emma baple (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cockayne

History Filter Activity

22 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ERCC6 were set to Cockayne syndrome, type B, 133540

24 Aug 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ERCC6 was changed to BIALLELIC, autosomal or pseudoautosomal

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).

14 Mar 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (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 IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory