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  3. ERCC8
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Retinal disorders

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 18 panels

2 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

Richard Scott (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Retinopathy is a features of CSA
Created: 10 Feb 2017, 10:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
216400

Variants in this GENE are reported as part of current diagnostic practice

Created: 10 Feb 2017, 10:41 a.m.

Panel version: 1.22

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ERCC8. Rating Changed from Green List (high evidence) to Green List (high evidence)

13 Feb 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ERCC8 were set to Cockayne syndrome, type A 216400

10 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

10 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

10 Feb 2017, Gel status: 0

Added New Source

Richard Scott (Genomics England Curator)

ERCC8 was added to Posterior segment abnormalitiespanel. Sources: Expert list

10 Feb 2017, Gel status: 0

Created

Richard Scott (Genomics England Curator)

ERCC8 was created by richardhywel