Structural eye disease
Gene: DDB2

DDB2 (damage specific DNA binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000134574
EnsemblGeneIds (GRCh37): ENSG00000134574
OMIM: 600811, Gene2Phenotype
DDB2 is in 11 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

no evidence of involvement in eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E; 278740

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). no evidence of involvement in eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, 278740

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, 278740

OMIM

600811

Clinvar variants

Variants in DDB2

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

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, COMPLEMENTATION GROUP E, 278740 for gene: DDB2

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: DDB2 was added gene: DDB2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: DDB2 was set to

Structural eye disease Gene: DDB2