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Primary immunodeficiency

Gene: POLD1

Amber List (moderate evidence)

POLD1 (DNA polymerase delta 1, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000062822
EnsemblGeneIds (GRCh37): ENSG00000062822
OMIM: 174761, Gene2Phenotype
POLD1 is in 17 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Red to Amber based on expert review and evidence.
Created: 17 Apr 2020, 12:58 p.m. | Last Modified: 17 Apr 2020, 12:58 p.m.
Panel Version: 2.104

Zornitza Stark (Australian Genomics)

I don't know

Three individuals from two generations of a consanguineous family reported, some functional data. Another unrelated individual reported in PMID 31449058, more functional data.
Note mono allelic variants in POLD1 are associated with Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381, an unrelated condition.
Created: 11 Apr 2020, 5 a.m. | Last Modified: 11 Apr 2020, 5 a.m.
Panel Version: 2.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • IUIS Classification December 2019
Phenotypes
  • Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability
  • Polymerase d 1 deficiency
  • Immunodeficiencies affecting cellular and humoral immunity
OMIM
174761
Clinvar variants
Variants in POLD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pold1 has been classified as Amber List (Moderate Evidence).

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene POLD1 were updated from 32048120; 32086639 to 31449058; 32086639; 32048120; 31629014

28 Feb 2020, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: POLD1 was added gene: POLD1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: POLD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLD1 were set to 32048120; 32086639 Phenotypes for gene: POLD1 were set to Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Polymerase d 1 deficiency; Immunodeficiencies affecting cellular and humoral immunity