Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
Gene: ERCC3EnsemblGeneIds (GRCh38): ENSG00000163161
EnsemblGeneIds (GRCh37): ENSG00000163161
OMIM: 133510, Gene2Phenotype
ERCC3 is in 14 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Green expert review, more than 3 unrelated cases/families reported in OMIM for XP/Cockayne syndrome, and is a confirmed DD gene for XP complementation group B. Also a confirmed DD gene for Trichothiodystrophy photosensitive, with a report of siblings in OMIM.Created: 24 Nov 2016, 4:16 p.m.
Helen Savage (Congenica Ltd)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum group B/Cockayne syndrome; Photosensitive trichothiodystrophy 2
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Xeroderma pigmentosum, group B, 610651
- Trichothiodystrophy, 601675
- OMIM
- 133510
- Clinvar variants
- Variants in ERCC3
- Penetrance
- Complete
- Panels with this gene
-
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Childhood solid tumours
- DDG2P
- Adult solid tumours cancer susceptibility
- Structural eye disease
- Monogenic hearing loss
- Fetal anomalies
- COVID-19 research
- White matter disorders and cerebral calcification - narrow panel
- Bilateral congenital or childhood onset cataracts
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
- Intellectual disability
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).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC3 was added to Cockayne and Xeroderma Pigmentosum-like disorderspanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Created
Ellen McDonagh (Genomics England Curator)ERCC3 was created by ellenmcdonagh