Lipodystrophy_Lipoatrophy
Gene: POLD1

POLD1 (DNA polymerase delta 1, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000062822
EnsemblGeneIds (GRCh37): ENSG00000062822
OMIM: 174761, Gene2Phenotype
POLD1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance, and metabolic abnormalities including insulin resistance and diabetes mellitus. Sensorineural deafness occurs late in the first or second decades of life.

At least 10 unrelated individuals reported, functional data.
Created: 27 Apr 2021, 10:39 a.m. | Last Modified: 27 Apr 2021, 10:39 a.m.

Panel Version: 0.73

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381; MONDO:0014157

Publications

Created: 27 Apr 2021, 10:39 a.m.
Last Modified: 27 Apr 2021, 10:39 a.m.
Panel version: 0.73

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381
MONDO:0014157

OMIM

174761

Clinvar variants

Variants in POLD1

Penetrance

None

Publications

Panels with this gene