This Panel is marked as Internal
DNA Repair Genes pertinent cancer susceptibility
Gene: DDB2
DDB2 (damage specific DNA binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000134574
EnsemblGeneIds (GRCh37): ENSG00000134574
OMIM: 600811, Gene2Phenotype
DDB2 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000134574
EnsemblGeneIds (GRCh37): ENSG00000134574
OMIM: 600811, Gene2Phenotype
DDB2 is in 11 panels
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Details
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: Nucleotide excision repair (NER)
- Activity: Complex defective in XP group E
- OMIM
- 600811
- Clinvar variants
- Variants in DDB2
- Penetrance
- Complete
- Panels with this gene
-
- Monogenic hearing loss
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Fetal anomalies
- DDG2P
- Structural eye disease
- White matter disorders and cerebral calcification - narrow panel
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Anophthalmia or microphthalmia
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
Created
Ellen McDonagh (Genomics England Curator)DDB2 was created by ellenmcdonagh
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)DDB2 was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database