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Mendeliome

Gene: PRIMPOL

Red List (low evidence)

PRIMPOL (primase and DNA directed polymerase)
EnsemblGeneIds (GRCh38): ENSG00000164306
EnsemblGeneIds (GRCh37): ENSG00000164306
OMIM: 615421, Gene2Phenotype
PRIMPOL is in 1 panel

4 reviews

Seb Lunke (Victorian Clinical Genetics Services)

CORRECTION: The single nonsense variant has been identified in 9 (not 6) patients as part of a cohort study of 731 Chinese individuals with non-syndromic high myopia (PMID 31560770), however this nonsense variant is observed in >1% of the Asian population (gnomAD) and therefore not enriched in the studied cohort.
Created: 29 Sep 2020, 3:27 a.m. | Last Modified: 29 Sep 2020, 3:27 a.m.
Panel Version: 0.4633

Sebastian Lunke (Victorian Clinical Genetics Services)

Red List (low evidence)

This gene have been associated with autosomal dominant Myopia 22 (MIM#615420) (PMID: 23579484), HOWEVER the disease association of the PRIMPOL gene with myopia has been DISPUTED (PMID: 25680975).

Only a single missense variant (Tyr89Asp) in this gene has been putatively associated with disease. The variant has been reported in multiple patients with high myopia (PMID: 23579484, 32375772), however it remains the only putative pathogenic missense variant reported in this gene to date. Segregation evidence for this variant is inconclusive. While it has been described to segregate with disease in a large Chinese family (PMID: 23579484), there is potential evidence of non-segregation in the family. The variant has also been described recently as occurring de novo in a separate family (PMID: 32375772), however paternity in that family has not been confirmed. It is also common in the Asian population (gnomAD 122 hets, 0 hom; E.Asian bias (0.6%)), and has been identified in healthy controls (PMID: 25680975). ClinVar submissions for this variant are conflicting. This variant has moderate functional evidence supporting abnormal protein function. Functional studies show that this variant causes reduced protein activities and slower replication fork progression (PMID: 25262353, 27230014). However, disruption of protein function does not corroborate association with disease in the absence of further evidence (PMID: 25680975).

A single nonsense variant has been identified in 6 patients as part of a cohort study of 731 Chinese individuals with non-syndromic high myopia (PMID 31560770), however this nonsense variant is observed in >1% of the Asian population (gnomAD) and therefore not enriched in the studied cohort. Other nonsense variants are observed at high frequency in gnomAD
Created: 28 Sep 2020, 11:37 p.m. | Last Modified: 28 Sep 2020, 11:37 p.m.
Panel Version: 0.4623

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

p.(Y89D) variant is present in 122 hets in gnomad.
Created: 15 Sep 2020, 9:33 a.m. | Last Modified: 15 Sep 2020, 9:33 a.m.
Panel Version: 0.4453

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopia 22, autosomal dominant, MIM# 615420

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Only one missense p.(Y89D) reported to date in several unrelated individuals with high myopia.
Created: 15 Sep 2020, 8:58 a.m. | Last Modified: 15 Sep 2020, 8:58 a.m.
Panel Version: 0.4453

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopia 22 (MIM#615420) AD

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopia 22, autosomal dominant, MIM# 615420
Tags
disputed
OMIM
615421
Clinvar variants
Variants in PRIMPOL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 2020, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: PRIMPOL.

28 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: primpol has been classified as Red List (Low Evidence).

15 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Sep 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRIMPOL were changed from to Myopia 22, autosomal dominant, MIM# 615420

15 Sep 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRIMPOL were set to

15 Sep 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PRIMPOL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

15 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRIMPOL was added gene: PRIMPOL was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PRIMPOL was set to Unknown