Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
Gene: ERCC2EnsemblGeneIds (GRCh38): ENSG00000104884
EnsemblGeneIds (GRCh37): ENSG00000104884
OMIM: 126340, Gene2Phenotype
ERCC2 is in 16 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)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrooculofacioskeletal syndrome 2; Photosensitive trichothiodystrophy 1; Xeroderma pigmentosum group D
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Xeroderma pigmentosum, group D, 278730
- Trichothiodystrophy, 601675
- OMIM
- 126340
- Clinvar variants
- Variants in ERCC2
- Penetrance
- Complete
- Panels with this gene
-
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- COVID-19 research
- Structural eye disease
- Inherited white matter disorders
- Childhood solid tumours
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Monogenic hearing loss
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
- Bilateral congenital or childhood onset cataracts
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)28/Nov/2016: Panel combined and revised due to external and internal review.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ERCC2 were set to Xeroderma pigmentosum, group D, 278730; Trichothiodystrophy, 601675
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ERCC2 were set to Xeroderma pigmentosum, group D, 278730;Trichothiodystrophy, 601675;Cerebrooculofacioskeletal syndrome 2, 610756
Created
Ellen McDonagh (Genomics England Curator)ERCC2 was created by ellenmcdonagh
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