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Hearing loss

Gene: DDB2

Red List (low evidence)

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

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#278740:Xeroderma pigmentosum, group E, DDB-negative subtype[Skin photosensitivity; Early onset skin cancer (basal cell, squamous cell and malignant melanoma); Early freckle-like lesions in exposed areas; Poikiloderma; Increased/decreased skin pigment; Skin atrophy; Telangiectasia; Actinic keratoses; Angiomas; Keratoacanthomas; Photophobia; Conjunctivitis; Keratitis; Ectropion; Entropion; Mild XP features; Minimal or no neurologic features; Defective DNA repair after ultraviolet radiation damage]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DDB2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert