Monogenic diabetes

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 15 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: POLD1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome.
Created: 11 Jan 2019, 10:04 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added to the panel as green due to expert review.
Created: 15 Jun 2016, 3:31 p.m.

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381
  • multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
  • multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381
OMIM
174761
Clinvar variants
Variants in POLD1
Penetrance
None
Publications
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

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Initial gene list and info col

11 Jan 2019, Gel status: 4

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to POLD1.

18 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome for gene: POLD1 Publications for gene POLD1 were changed from 25131834; 26172944; 23770608 to 23770608

18 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 for gene: POLD1 Publications for gene POLD1 were changed from 23770608 to 25131834; 26172944; 23770608

18 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: POLD1 was added gene: POLD1 was added to Monogenic diabetes. Sources: 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 23770608 Phenotypes for gene: POLD1 were set to multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Mode of pathogenicity for gene: POLD1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments