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  2. Combined Immunodeficiency
  3. POLD3
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Combined Immunodeficiency

Gene: POLD3

Amber List (moderate evidence)
POLD3 (DNA polymerase delta 3, accessory subunit)
EnsemblGeneIds (GRCh38): ENSG00000077514
EnsemblGeneIds (GRCh37): ENSG00000077514
OMIM: 611415, Gene2Phenotype
POLD3 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Two reported cases. IUIS IEI committee classify the gene in the subcategory Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency.
Sources: Expert list
Created: 10 Nov 2024, 4:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 122, MIM# 620869

Publications

Created: 10 Nov 2024, 4:11 a.m.

Panel version: 1.83

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Immunodeficiency 122, MIM# 620869
OMIM
611415
Clinvar variants
Variants in POLD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pold3 has been classified as Amber List (Moderate Evidence).

10 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pold3 has been classified as Amber List (Moderate Evidence).

10 Nov 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: POLD3 was added gene: POLD3 was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: POLD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLD3 were set to 38099988; 37030525 Phenotypes for gene: POLD3 were set to Immunodeficiency 122, MIM# 620869 Review for gene: POLD3 was set to AMBER