Childhood solid tumours
Gene: ERCC4EnsemblGeneIds (GRCh38): ENSG00000175595
EnsemblGeneIds (GRCh37): ENSG00000175595
OMIM: 133520, Gene2Phenotype
ERCC4 is in 24 panels
3 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
Lara Hawkes (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma Pigmentosa
Ellen Thomas (Genomics England Curator)
Comment on list classification: ERCC4 causes Fanconi anaemia and XP.Created: 14 Feb 2016, 6:59 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert List
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Fanconi anemia, complementation group Q, 615272
- Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
- Fanconi anemia, complementation group Q, 615272
- XFE progeroid syndrome, 610965
- Xeroderma pigmentosum, group F, 278760
- OMIM
- 133520
- Clinvar variants
- Variants in ERCC4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Structural eye disease
- Radial dysplasia
- Limb disorders
- Anophthalmia or microphthalmia
- Adult solid tumours cancer susceptibility
- Monogenic short stature
- Haematological malignancies cancer susceptibility
- Monogenic hearing loss
- Hereditary ataxia with onset in adulthood
- Severe microcephaly
- Cytopenias and congenital anaemias
- COVID-19 research
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Confirmed Fanconi anaemia or Bloom syndrome
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Fetal anomalies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Intellectual disability
- Childhood solid tumours
- Pigmentary skin disorders
History Filter Activity
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to ERCC4. Added phenotypes Fanconi anemia, complementation group Q, 615272; Xeroderma pigmentosum, group F, 278760 for gene: ERCC4 Publications for gene ERCC4 were changed from to 22044607
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to ERCC4. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for ERCC4 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)ERCC4 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Radboud University Medical Center, Nijmegen