Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
Gene: DDB1
DDB1 (damage specific DNA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000167986
EnsemblGeneIds (GRCh37): ENSG00000167986
OMIM: 600045, Gene2Phenotype
DDB1 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000167986
EnsemblGeneIds (GRCh37): ENSG00000167986
OMIM: 600045, Gene2Phenotype
DDB1 is in 6 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Does not seem to be evidence in the literature for this association to be clinically/diagnostically relevant to date.Created: 28 Nov 2016, 5:26 p.m.
Helen Savage (Congenica Ltd)
Mode of inheritance
Unknown
Details
- Sources
-
- Expert Review Red
- UKGTN
- OMIM
- 600045
- Clinvar variants
- Variants in DDB1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
28 Nov 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)28/Nov/2016: Panel combined and revised due to external and internal review.
28 Nov 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
24 Nov 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
27 Oct 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)DDB1 was added to Cockayne and Xeroderma Pigmentosum-like disorderspanel. Sources: UKGTN
27 Oct 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)DDB1 was created by ellenmcdonagh