This Panel is marked as Retired
Multiple Tumours
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
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Xeroderma Pigmentosum (E)
- Basal cell carcinoma
- Squamous cell carcinoma
- Melanoma
- OMIM
- 600811
- Clinvar variants
- Variants in DDB2
- Penetrance
- Complete
- Panels with this gene
-
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Adult solid tumours cancer susceptibility
- Monogenic hearing loss
- Intellectual disability
- DDG2P
- Structural eye disease
- White matter disorders and cerebral calcification - narrow panel
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Anophthalmia or microphthalmia
History Filter Activity
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)DDB2 was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)DDB2 was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)