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  3. POLD1
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Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: POLD1

Green List (high evidence)
POLD1 (DNA polymerase delta 1, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000062822
EnsemblGeneIds (GRCh37): ENSG00000062822
OMIM: 174761, Gene2Phenotype
POLD1 is in 16 panels

6 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 3 May 2024, 8:36 p.m. | Last Modified: 3 May 2024, 8:36 p.m.
Panel Version: 5.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 3 May 2024, 8:36 p.m.
Last Modified: 3 May 2024, 8:36 p.m.
Panel version: 5.3

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are three unrelated cases and functional data in support of the association of biallelic POL1D variants with immunodeficiency. Hence, this gene can be promoted to green rating in the next GMS review.
Created: 18 Oct 2023, 4:20 p.m. | Last Modified: 18 Oct 2023, 4:20 p.m.
Panel Version: 4.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 18 Oct 2023, 4:17 p.m.
Last Modified: 18 Oct 2023, 4:17 p.m.
Panel version: 4.50

Hannah Knight (NIHR BioResource - University of Cambridge)

Green List (high evidence)

PMID: 33140240 - one new report of this disease in a boy with immunodeficiency, with homozygous variant (p.Q1059E)
Created: 12 Oct 2023, 10:53 a.m. | Last Modified: 12 Oct 2023, 10:53 a.m.
Panel Version: 4.40

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polymerase d 1 deficiency

Publications

Created: 12 Oct 2023, 10:53 a.m.
Last Modified: 12 Oct 2023, 10:53 a.m.
Panel version: 4.40

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
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

Created: 11 Apr 2020, 5 a.m.
Last Modified: 11 Apr 2020, 5 a.m.
Panel version: 2.51

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

Created: 28 Feb 2020, 8:49 p.m.
Last Modified: 28 Feb 2020, 8:49 p.m.
Panel version: 2.36

History Filter Activity

3 May 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: POLD1. Tag Q4_23_NHS_review was removed from gene: POLD1.

3 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to POLD1. Source Expert Review Green was added to POLD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

18 Oct 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

18 Oct 2023, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green tag was added to gene: POLD1. Tag Q4_23_NHS_review tag was added to gene: POLD1.

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