Early onset or syndromic epilepsy
Gene: PLK1This 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 tagCreated: 16 Oct 2023, 7:37 p.m. | Last Modified: 16 Oct 2023, 7:37 p.m.
Panel Version: 4.118
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
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
>5 cases with epileptic encephalopathy with homozygous variants in PMID: 33875846
Sources: LiteratureCreated: 30 Oct 2021, 11:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy; microcephaly; intellectual disability
Tag gene-checked tag was added to gene: PLK1.
Phenotypes for gene: PLK1 were changed from Epilepsy; microcephaly; intellectual disability to developmental and epileptic encephalopathy, MONDO:0100062
Tag Q2_23_promote_green was removed from gene: PLK1.
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)
Tag Q2_23_promote_green tag was added to gene: PLK1.
Gene: plk1 has been classified as Amber List (Moderate Evidence).
Publications for gene: PLK1 were set to 33875846
Publications for gene: PLK1 were set to
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