Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: POLD1

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green due to expert review - Sian Ellard (University of Exeter Medical School).
Created: 23 Aug 2016, 11:55 a.m.

Comment on mode of pathogenicity: Mutation-specific effect - Sian Ellard (University of Exeter Medical School), Oct. 16, 2015, 10:27 a.m. Comments on the Familial Diabetes panel 0.
Created: 23 Aug 2016, 11:55 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome

Publications

23770608

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 23 Aug 2016, 11:55 a.m.

Panel version: 1.14

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Variants in this gene are reported as part of current diagnostic practice
Created: 16 Oct 2015, 9:28 a.m.

Mutation-specific effect
Created: 16 Oct 2015, 9:27 a.m.

Created: 16 Oct 2015, 9:27 a.m.

Panel version: Imported from "Familial diabetes" panel version 0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert Review

Phenotypes

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381

OMIM

174761

Clinvar variants

Variants in POLD1

Penetrance

Complete

Publications

23770608

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

8 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: POLD1 were changed from multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381

23 Aug 2016, Gel status: 4