Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

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 17 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Green review and more than 3 cases reported in OMIM for both XP and photosensitive trichothiodystrophy. It is a confirmed DD gene for both phenotypes.
Created: 24 Nov 2016, 4:10 p.m.

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebrooculofacioskeletal syndrome 2; Photosensitive trichothiodystrophy 1; Xeroderma pigmentosum group D

History Filter Activity

28 Nov 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

28/Nov/2016: Panel combined and revised due to external and internal review.

24 Nov 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).

24 Nov 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ERCC2 were set to Xeroderma pigmentosum, group D, 278730; Trichothiodystrophy, 601675

24 Nov 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).

24 Nov 2016, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ERCC2 were set to Xeroderma pigmentosum, group D, 278730;Trichothiodystrophy, 601675;Cerebrooculofacioskeletal syndrome 2, 610756

27 Oct 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ERCC2 was created by ellenmcdonagh

27 Oct 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

ERCC2 was added to Cockayne and Xeroderma Pigmentosum-like disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN