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  2. Severe Combined Immunodeficiency (absent T present B cells)
  3. POLD3
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Severe Combined Immunodeficiency (absent T present B cells)

Gene: POLD3

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Second individual reported with a different homozygous missense variant, with supportive functional data including cell rescue experiments.
Created: 3 Jul 2024, 10:51 p.m. | Last Modified: 3 Jul 2024, 10:51 p.m.
Panel Version: 1.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 122, MIM# 620869

Publications

Created: 3 Jul 2024, 10:51 p.m.
Last Modified: 3 Jul 2024, 10:51 p.m.
Panel version: 1.3

Peter McNaughton (Queensland Children's Hospital)

I don't know

Homozygous mutation in POLD3 (NM_006591.3: c.29T>C; p.Ile10Thr) in the offspring of a consanguineous Lebanese family with syndromic T -B +NK- SCID, including neurodevelopmental delay and profound hearing loss.
Sources: Literature
Created: 17 Apr 2023, 4:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe combined immunodeficiency

Publications

Created: 17 Apr 2023, 4:41 a.m.

Panel version: 1.1

Details

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

History Filter Activity

3 Jul 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POLD3 were changed from Severe combined immunodeficiency MONDO:0015974 to Immunodeficiency 122, MIM# 620869

3 Jul 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POLD3 were set to 37030525; 36395985; 27524497

3 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pold3 has been classified as Green List (High Evidence).

5 May 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

5 May 2023, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: POLD3 were changed from Severe combined immunodeficiency to Severe combined immunodeficiency MONDO:0015974

5 May 2023, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: POLD3 were set to PMID: 37030525

5 May 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

17 Apr 2023, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

gene: POLD3 was added gene: POLD3 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature Mode of inheritance for gene: POLD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLD3 were set to PMID: 37030525 Phenotypes for gene: POLD3 were set to Severe combined immunodeficiency Review for gene: POLD3 was set to AMBER