Childhood solid tumours
Gene: ERCC5EnsemblGeneIds (GRCh38): ENSG00000134899
EnsemblGeneIds (GRCh37): ENSG00000134899
OMIM: 133530, Gene2Phenotype
ERCC5 is in 13 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that Xeroderma pigmentosum associated genes associated with cancer will be included in this panel and that there is enough evidence to rate this gene green.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Publications
Lara Hawkes (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma Pigmentosa
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert List
- Phenotypes
-
- Xeroderma pigmentosum, group G, 278780
- OMIM
- 133530
- Clinvar variants
- Variants in ERCC5
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Childhood solid tumours
- DDG2P
- Adult solid tumours cancer susceptibility
- Structural eye disease
- Arthrogryposis
- Monogenic hearing loss
- Intellectual disability
- Fetal anomalies
- Severe microcephaly
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
History Filter Activity
Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to ERCC5. Source NHS GMS was added to ERCC5. Mode of inheritance for gene ERCC5 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Xeroderma pigmentosum, group G, 278780 for gene: ERCC5 Publications for gene ERCC5 were changed from to 26884178; 10026181; 7951246; 11841555; 9096355; 23255472; 1206391 Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: ERCC5 was added gene: ERCC5 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: ERCC5 was set to