Combined Immunodeficiency
Gene: POLD2EnsemblGeneIds (GRCh38): ENSG00000106628
EnsemblGeneIds (GRCh37): ENSG00000106628
OMIM: 600815, Gene2Phenotype
POLD2 is in 3 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Only 1 reported proband with a homozygous missense variant (p.Asp293Asn). The phenotype was severe intellectual disability, short stature, recurrent upper and lower respiratory infections, CD4+ T, B, and NK cell lymphopenia, and high frequency of CCR7-CD45RA+ TEMRA CD8+ T cells. Patient fibroblasts showed slower S phase progression with faster replication fork progression compared to healthy donor fibroblasts and a reduced number of replication origin initiation events. A null mouse model is embryonic lethal by the gastrulation stage with an apparent deficiency in cellular proliferation.
Limited ClinGen classification by the SCID-CID expert panel on 16/02/2023Created: 5 May 2023, 1:35 a.m. | Last Modified: 5 May 2023, 1:35 a.m.
Panel Version: 1.34
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Non-severe combined immunodeficiency due to polymerase delta deficiency MONDO:0800145
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single affected individual from consanguineous family reported, homozygous missense variant, some functional data.
Sources: Expert listCreated: 3 Apr 2020, 3:33 a.m. | Last Modified: 3 Apr 2020, 3:34 a.m.
Panel Version: 0.49
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Non-severe combined immunodeficiency due to polymerase delta deficiency MONDO:0800145
- Low CD4 T cells
- Low B cells, normal maturation
- recurrent respiratory tract infections, skin infections, warts and molluscum
- short stature
- intellectual disability
- OMIM
- 600815
- Clinvar variants
- Variants in POLD2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: POLD2 were changed from Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability to Non-severe combined immunodeficiency due to polymerase delta deficiency MONDO:0800145; Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pold2 has been classified as Amber List (Moderate Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: POLD2 were set to 31449058
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pold2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pold2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: POLD2 was added gene: POLD2 was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: POLD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLD2 were set to 31449058 Phenotypes for gene: POLD2 were set to Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability Review for gene: POLD2 was set to RED