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Mendeliome

Gene: DDB2

Green List (high evidence)

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: 6 May 2022, 7:45 a.m. | Last Modified: 6 May 2022, 7:45 a.m.
Panel Version: 0.13895

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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
600811
Clinvar variants
Variants in DDB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 May 2022, 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).

6 May 2022, 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

6 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DDB2 were set to

6 May 2022, 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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DDB2 was set to Unknown