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Hearing loss

Gene: POLD1

Red List (low evidence)

POLD1 (DNA polymerase delta 1, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000062822
EnsemblGeneIds (GRCh37): ENSG00000062822
OMIM: 174761, Gene2Phenotype
POLD1 is in 16 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#612591:{Colorectal cancer, susceptibility to, 10}[Colorectal adenomasColorectal polypsColorectal carcinoma; Endometrial carcinoma; Colorectal carcinomaEndometrial carcinoma]; #615381:Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome[Normal birth weight; Mandibular hypoplasiaProgeroid appearance; Sensorineural deafness; Prominent eyes; Beaked nose; Small mouth; Crowded teeth; Poor breast development (in women); HepatomegalyHepatic steatosis; Cryptorchidism; OsteoporosisJoint contractures; KyphosisScoliosis; Tight skinScleroderma-like changesTelangiectasesSkin atrophy; LipodystrophyLoss of subcutaneous fat, particularly affecting the limbsLoss of subcutaneous fat, generalizedIncreased visceral fat; High-pitched voice; Insulin resistanceDiabetes mellitusHypogonadism (in males); Abnormal liver function testsHypertriglyceridemia]

Publications

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Colorectal cancer, susceptibility to, 10}, 612591Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome,615381
  • Colorectalcancer,susceptibilityto,10},612591Mandibularhypoplasia,deafness,progeroidfeatures,andlipodystrophysyndrome,615381
OMIM
174761
Clinvar variants
Variants in POLD1
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

POLD1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen