Lipodystrophy - childhood onset
Gene: POLD1EnsemblGeneIds (GRCh38): ENSG00000062822
EnsemblGeneIds (GRCh37): ENSG00000062822
OMIM: 174761, Gene2Phenotype
POLD1 is in 16 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)
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
- None
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Insulin resistance (including lipodystrophy)
- COVID-19 research
- Familial diabetes
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- GI tract tumours
- Adult solid tumours cancer susceptibility
- Monogenic diabetes
- Lipodystrophy - childhood onset
- Monogenic hearing loss
- Inherited polyposis and early onset colorectal cancer - germline testing
- Fetal anomalies
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
History Filter Activity
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Sarah Leigh: Comment on phenotypes: Mandibu
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pold1 has been classified as Green List (High Evidence).
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