Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
Gene: ERCC5EnsemblGeneIds (GRCh38): ENSG00000134899
EnsemblGeneIds (GRCh37): ENSG00000134899
OMIM: 133530, Gene2Phenotype
ERCC5 is in 13 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
More than 3 cases reported with association with Xeroderma pigmentosum, group G/Cockayne syndrome in OMIM, from several different reports and multiple different variants. It is a confirmed DD gene for Xeroderma pigmentosum, group G.Created: 16 Aug 2016, 10:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, group G Cockayne syndrome, 278780
Helen Savage (Congenica Ltd)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrooculofacioskeletal syndrome 3; Xeroderma pigmentosa group G
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 G, 278780
- Xeroderma pigmentosum, group G/Cockayne syndrome, 278780
- OMIM
- 133530
- Clinvar variants
- Variants in ERCC5
- Penetrance
- Complete
- Panels with this gene
-
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Childhood solid tumours
- DDG2P
- Adult solid tumours cancer susceptibility
- Intellectual disability
- Structural eye disease
- Arthrogryposis
- Monogenic hearing loss
- Fetal anomalies
- Severe microcephaly
- White matter disorders and cerebral calcification - narrow panel
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
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 ERCC5 were set to Xeroderma pigmentosum, group G, 278780;Xeroderma pigmentosum, group G/Cockayne syndrome, 278780
Created
Ellen McDonagh (Genomics England Curator)ERCC5 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC5 was added to Cockayne and Xeroderma Pigmentosum-like disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN