Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
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
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Green expert review, more than 3 cases reported in OMIM, and is a confirmed DD gene for this phenotype.Created: 24 Nov 2016, 4:05 p.m.
Helen Savage (Congenica Ltd)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum group E
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Xeroderma pigmentosum, group E, DDB-negative subtype, 278740
- OMIM
- 600811
- Clinvar variants
- Variants in DDB2
- Penetrance
- Complete
- Panels with this gene
-
- Monogenic hearing loss
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Adult solid tumours cancer susceptibility
- Intellectual disability
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Structural eye disease
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Anophthalmia or microphthalmia
- Fetal anomalies
History Filter Activity
28 Nov 2016, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)28/Nov/2016: Panel combined and revised due to external and internal review.
24 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
24 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
27 Oct 2016, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)DDB2 was added to Cockayne and Xeroderma Pigmentosum-like disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
27 Oct 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)DDB2 was created by ellenmcdonagh