Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

Gene: DDB1

Red List (low evidence)

DDB1 (damage specific DNA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000167986
EnsemblGeneIds (GRCh37): ENSG00000167986
OMIM: 600045, Gene2Phenotype
DDB1 is in 5 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)

Red List (low evidence)

Mode of inheritance
Unknown

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