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Chromosome Breakage Disorders
Gene: DDB2

DDB2 (damage specific DNA binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000134574
EnsemblGeneIds (GRCh37): ENSG00000134574
OMIM: 600811, Gene2Phenotype
DDB2 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 12 Feb 2021, 9:43 a.m. | Last Modified: 12 Feb 2021, 9:43 a.m.

Panel Version: 0.40

Phenotypes
Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740

Publications

Created: 12 Feb 2021, 9:43 a.m.
Last Modified: 12 Feb 2021, 9:43 a.m.
Panel version: 0.40

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740

OMIM

Clinvar variants

Variants in DDB2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

12 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ddb2 has been classified as Green List (High Evidence).

12 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DDB2 were changed from to Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740

12 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DDB2 were set to

12 Feb 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DDB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DDB2 was added gene: DDB2 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DDB2 was set to Unknown