Monogenic hearing loss
Gene: POLD1EnsemblGeneIds (GRCh38): ENSG00000062822
EnsemblGeneIds (GRCh37): ENSG00000062822
OMIM: 174761, Gene2Phenotype
POLD1 is in 16 panels
2 reviews
Ida Ertmanska (Genomics England Curator)
PMID: 31944473 Oh et al., 2020
Korean family with autosomal recessive non-syndromic SNHL caused by biallelic POLD1 variants. The two affected siblings carried compound heterozygous mutations: one frameshift variant (p.Ser197Hisfs*54) predicted to be a null allele, and one missense variant (p.Gly1100Arg) that reduces polymerase activity by 30-40% while preserving normal exonuclease activity.Created: 12 Feb 2026, 5:41 p.m. | Last Modified: 12 Feb 2026, 5:41 p.m.
Panel Version: 5.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hearing loss disorder, MONDO:0005365
Publications
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
-
- Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381
- OMIM
- 174761
- Clinvar variants
- Variants in POLD1
- Penetrance
- Complete
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Insulin resistance (including lipodystrophy)
- Intellectual disability
- COVID-19 research
- Familial diabetes
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- GI tract tumours
- Adult solid tumours cancer susceptibility
- Lipodystrophy - childhood onset
- Monogenic hearing loss
- Inherited polyposis and early onset colorectal cancer - germline testing
- Fetal anomalies
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: POLD1 were changed from {Colorectal cancer, susceptibility to, 10}, 612591Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome,615381; Colorectalcancer,susceptibilityto,10},612591Mandibularhypoplasia,deafness,progeroidfeatures,andlipodystrophysyndrome,615381 to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381
Added New Source
Ellen McDonagh (Genomics England Curator)POLD1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen