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Hearing loss

Gene: POLH

Red List (low evidence)

POLH (DNA polymerase eta)
EnsemblGeneIds (GRCh38): ENSG00000170734
EnsemblGeneIds (GRCh37): ENSG00000170734
OMIM: 603968, Gene2Phenotype
POLH is in 7 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#278750:Xeroderma pigmentosum, variant type[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; No growth retardation, microcephaly, congenital malformations or other abnormalities; Normal DNA repair after ultraviolet radiation; Defect in recovery of post-UV DNA synthesis; damage]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

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