Cataracts

Gene: ERCC2

Green List (high evidence)

ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit)
EnsemblGeneIds (GRCh38): ENSG00000104884
EnsemblGeneIds (GRCh37): ENSG00000104884
OMIM: 126340, Gene2Phenotype
ERCC2 is in 15 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebrooculofacioskeletal syndrome 2; Trichothiodystrophy

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Gene added from the Manchester congenital cataracts gene panel. It is a confirmed DD gene for CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 and TRICHOTHIODYSTROPHY PHOTOSENSITIVE (include cataract as a phenotype).
Created: 29 Apr 2016, 2:59 p.m.

Phenotypes
CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2; TRICHOTHIODYSTROPHY PHOTOSENSITIVE

History Filter Activity

27 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

14 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ERCC2 were set to Cerebrooculofacioskeletal syndrome 2; Trichothiodystrophy; CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2; TRICHOTHIODYSTROPHY PHOTOSENSITIVE

13 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

29 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ERCC2 was created by ellenmcdonagh

29 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ERCC2 was added to Cataractspanel. Sources: Expert list