This Panel is marked as Internal
DNA Repair Genes pertinent cancer susceptibility
Gene: ERCC4
ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000175595
EnsemblGeneIds (GRCh37): ENSG00000175595
OMIM: 133520, Gene2Phenotype
ERCC4 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000175595
EnsemblGeneIds (GRCh37): ENSG00000175595
OMIM: 133520, Gene2Phenotype
ERCC4 is in 24 panels
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Details
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: Nucleotide excision repair (NER)
- Activity: 5' incision catalytic subunit
- OMIM
- 133520
- Clinvar variants
- Variants in ERCC4
- Penetrance
- Complete
- Panels with this gene
-
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- DDG2P
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Childhood solid tumours
- Pigmentary skin disorders
- Monogenic hearing loss
- Childhood solid tumours cancer susceptibility
- Structural eye disease
- Radial dysplasia
- Limb disorders
- Severe microcephaly
- Fetal anomalies
- Anophthalmia or microphthalmia
- Adult solid tumours cancer susceptibility
- Monogenic short stature
- Haematological malignancies cancer susceptibility
- Hereditary ataxia with onset in adulthood
- Cytopenias and congenital anaemias
- COVID-19 research
- White matter disorders and cerebral calcification - narrow panel
- Confirmed Fanconi anaemia or Bloom syndrome
- Neurofibromatosis Type 1
- Intellectual disability
- Haematological malignancies for rare disease
History Filter Activity
7 Sep 2018, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)This Cancer Germline 100K panel has been subjected to extensive internal and external review and has been versioned to V1 to enable germline reporting in the Cancer Pipeline.
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC4 was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ERCC4 was created by ellenmcdonagh