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  3. PLK1
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Early onset or syndromic epilepsy

Gene: PLK1

Green List (high evidence)
PLK1 (polo like kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000166851
EnsemblGeneIds (GRCh37): ENSG00000166851
OMIM: 602098, Gene2Phenotype
PLK1 is in 2 panels

4 reviews

Eleanor Williams (Genomics England Curator)

This gene is not currently associated with a disease phenotype in OMIM, but checked PMID:33875846 to make sure it is the same gene listed in the publication as on this panel and it is, so added the gene-checked tag
Created: 16 Oct 2023, 7:37 p.m. | Last Modified: 16 Oct 2023, 7:37 p.m.
Panel Version: 4.118
Created: 16 Oct 2023, 7:37 p.m.
Last Modified: 16 Oct 2023, 7:37 p.m.
Panel version: 4.118

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 11 Oct 2023, noon | Last Modified: 11 Oct 2023, noon
Panel Version: 4.110

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 11 Oct 2023, noon
Last Modified: 11 Oct 2023, noon
Panel version: 4.110

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major review.
Created: 17 Apr 2023, 6:45 a.m. | Last Modified: 17 Apr 2023, 6:45 a.m.
Panel Version: 4.17
As reviewed by Dmitrijs Rots (RadboudUMC), PMID:33875846 reported five unrelated cases identified with homozygous variants in PLK1 gene and presenting with a neurodevelopmental disorder phenotype characterised with seizures, microcephaly and global developmental delay.

This gene has not yet been associated with relevant phenotypes in OMIM or Gene2Phenotype.
Created: 17 Apr 2023, 6:43 a.m. | Last Modified: 17 Apr 2023, 6:44 a.m.
Panel Version: 4.14

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
developmental and epileptic encephalopathy, MONDO:0100062

Publications

Created: 17 Apr 2023, 6:43 a.m.
Last Modified: 17 Apr 2023, 6:44 a.m.
Panel version: 4.14

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

>5 cases with epileptic encephalopathy with homozygous variants in PMID: 33875846
Sources: Literature
Created: 30 Oct 2021, 11:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy; microcephaly; intellectual disability

Created: 30 Oct 2021, 11:51 a.m.

Panel version: 2.452

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • developmental and epileptic encephalopathy, MONDO:0100062
Tags
gene-checked
OMIM
602098
Clinvar variants
Variants in PLK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Oct 2023, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: PLK1.

11 Oct 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PLK1 were changed from Epilepsy; microcephaly; intellectual disability to developmental and epileptic encephalopathy, MONDO:0100062

11 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: PLK1.

11 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to PLK1. Source Expert Review Green was added to PLK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

17 Apr 2023, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: PLK1.

17 Apr 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: plk1 has been classified as Amber List (Moderate Evidence).

17 Apr 2023, Gel status: 0

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: PLK1 were set to 33875846

17 Apr 2023, Gel status: 0

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: PLK1 were set to

30 Oct 2021, Gel status: 0

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

Dmitrijs Rots (Children's Clinical University Hospital)

gene: PLK1 was added gene: PLK1 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: PLK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLK1 were set to Epilepsy; microcephaly; intellectual disability Review for gene: PLK1 was set to GREEN