Diabetes with additional phenotypes suggestive of a monogenic aetiology

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green due to expert review - Sian Ellard (University of Exeter Medical School).
Created: 23 Aug 2016, 11:55 a.m.
Comment on mode of pathogenicity: Mutation-specific effect - Sian Ellard (University of Exeter Medical School), Oct. 16, 2015, 10:27 a.m. Comments on the Familial Diabetes panel 0.
Created: 23 Aug 2016, 11:55 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome

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

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
  • Expert Review Green
  • Expert Review
Phenotypes
  • multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
OMIM
174761
Clinvar variants
Variants in POLD1
Penetrance
Complete
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

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

23 Aug 2016, Gel status: 0

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for POLD1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

23 Aug 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

POLD1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Expert Review

23 Aug 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

POLD1 was created by ellenmcdonagh