Lipodystrophy - childhood onset

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 17 panels

4 reviews

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 5 Feb 2019, 2:21 p.m.

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



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.

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Comment on phenotypes: Mandibu

4 Jan 2019, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pold1 has been classified as Green List (High Evidence).

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: POLD1 was added gene: POLD1 was added to Lipodystrophy - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLD1 were set to 25131834; 26172944; 23770608 Phenotypes for gene: POLD1 were set to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381