Insulin resistance (including lipodystrophy)
Gene: POLD1EnsemblGeneIds (GRCh38): ENSG00000062822
EnsemblGeneIds (GRCh37): ENSG00000062822
OMIM: 174761, Gene2Phenotype
POLD1 is in 16 panels
3 reviews
David Savage (IMS MRL, Uni. Cambridge)
Robert Semple (University of Cambridge)
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 reportedCreated: 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}, 612591Created: 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
-
- Monogenic diabetes
- Insulin resistance (including lipodystrophy)
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Familial diabetes
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- GI tract tumours
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Lipodystrophy - childhood onset
- Monogenic hearing loss
- DDG2P
- Inherited polyposis and early onset colorectal cancer - germline testing
- Fetal anomalies
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 12/08/2016
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for POLD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for POLD1 were set to 23770608; 26172944; 25131834
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for POLD1 were set to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381
Set publications
Sarah Leigh (Genomics England Curator)Publications for POLD1 were set to 20631028; 23770608; 26172944
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for POLD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)POLD1 was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen