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Primary immunodeficiency

Gene: POLD2

Red List (low evidence)

POLD2 (DNA polymerase delta 2, accessory subunit)
EnsemblGeneIds (GRCh38): ENSG00000106628
EnsemblGeneIds (GRCh37): ENSG00000106628
OMIM: 600815, Gene2Phenotype
POLD2 is in 2 panels

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single affected individual from consanguineous family reported, homozygous missense variant, some functional data.
Created: 11 Apr 2020, 5:01 a.m. | Last Modified: 11 Apr 2020, 5:01 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
  • IUIS Classification December 2019
Phenotypes
  • Polymerase d 2 deficiency
  • Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability
  • Immunodeficiencies affecting cellular and humoral immunity
  • Low CD4 T cells
  • Low B cells, normal maturation
OMIM
600815
Clinvar variants
Variants in POLD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: POLD2 were changed from Polymerase d 2 deficiency; Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Immunodeficiencies affecting cellular and humoral immunity to Polymerase d 2 deficiency; Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Immunodeficiencies affecting cellular and humoral immunity; Low CD4 T cells; Low B cells, normal maturation

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene POLD2 were updated from 32086639; 32048120 to 31449058; 32086639; 32048120

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: POLD2 were set to

28 Feb 2020, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: POLD2 were changed from to Polymerase d 2 deficiency; Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Immunodeficiencies affecting cellular and humoral immunity

28 Feb 2020, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: POLD2 was changed from to BIALLELIC, autosomal or pseudoautosomal

28 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: POLD2 was added gene: POLD2 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: POLD2 was set to