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Hearing loss

Gene: XPA

Red List (low evidence)

XPA (XPA, DNA damage recognition and repair factor)
EnsemblGeneIds (GRCh38): ENSG00000136936
EnsemblGeneIds (GRCh37): ENSG00000136936
OMIM: 611153, Gene2Phenotype
XPA is in 13 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#278700:Xeroderma pigmentosum, group A[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; Mental deterioration; Low intelligence; Microcephaly; Sensorineural deafness; Hyporeflexia; Spasticity; Ataxia; Choreoathetosis; Minimal to severe 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)

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