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Retinal disorders

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 24 panels

2 reviews

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

Green List (high evidence)

Richard Scott (Genomics England Curator)

Green List (high evidence)

Retinopathy part of Cockayne syndrome
Created: 10 Feb 2017, 10:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
133540

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

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 ERCC6. 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 ERCC6 were set to Cockayne syndrome, type B 133540

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

Set Phenotypes

Richard Scott (Genomics England Curator)

Phenotypes for ERCC6 were set to

10 Feb 2017, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

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

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).

9 Mar 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ERCC6 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ERCC6 was created by ellenmcdonagh