Insulin resistance (including lipodystrophy)

Gene: POLD1

Green List (high evidence)

POLD1 (DNA polymerase delta 1, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000062822
EnsemblGeneIds (GRCh37): ENSG00000062822
OMIM: 174761, Gene2Phenotype
POLD1 is in 14 panels

3 reviews

David Savage (IMS MRL, Uni. Cambridge)

Green List (high evidence)

Robert Semple (University of Cambridge)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME

Publications

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: At least two de novo occurrences reported
Created: 12 Aug 2016, 4:11 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Four reports of an in-frame deletion (c.1812_1814del, p.S605del), in unrelated patients (de novo occurrence proven for two of these), in vitro studies strongly support role in this phenotype (PMID 23770608). Eight further reports of this deletion, two with diabetes (PMID 26172944)
Created: 12 Aug 2016, 4:09 p.m.
Comment on phenotypes: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 615381 does not strictly fit this panel as it is not associated with Acanthosis nigricans. Variants also reported in {Colorectal cancer, susceptibility to, 10}, 612591
Created: 12 Aug 2016, 3:58 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381
OMIM
174761
Clinvar variants
Variants in POLD1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 12/08/2016

12 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for POLD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for POLD1 were set to 23770608; 26172944; 25131834

11 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for POLD1 were set to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381

11 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for POLD1 were set to 20631028; 23770608; 26172944

11 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for POLD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

POLD1 was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen