Childhood solid tumours
Gene: DDB2EnsemblGeneIds (GRCh38): ENSG00000134574
EnsemblGeneIds (GRCh37): ENSG00000134574
OMIM: 600811, Gene2Phenotype
DDB2 is in 11 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 E, DDB-negative subtype, 278740
- OMIM
- 600811
- Clinvar variants
- Variants in DDB2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood solid tumours
- DDG2P
- Adult solid tumours cancer susceptibility
- Monogenic hearing loss
- Structural eye disease
- Fetal anomalies
- 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 DDB2. Source NHS GMS was added to DDB2. Mode of inheritance for gene DDB2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 for gene: DDB2 Publications for gene DDB2 were changed from to 12812979; 21107348; 26884178; 104693112 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: DDB2 was added gene: DDB2 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: DDB2 was set to