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Hearing loss

Gene: XPC

Red List (low evidence)

XPC (XPC complex subunit, DNA damage recognition and repair factor)
EnsemblGeneIds (GRCh38): ENSG00000154767
EnsemblGeneIds (GRCh37): ENSG00000154767
OMIM: 613208, Gene2Phenotype
XPC is in 12 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#278720:Xeroderma pigmentosum, group C[Photophobia; Skin photosensitivityEarly onset skin cancer (basal cell, squamous cell and malignant melanoma)Early freckle-like lesions in exposed areasSkin atrophyTelangiectasiaActinic keratosesHypopigmentation]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

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