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Intellectual disability

Gene: PLK1

No list

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

1 review

Dmitrijs Rots (RadboudUMC)

Green List (high evidence)

>5 cases with epileptic encephalopathy with homozygous variants in PMID: 33875846
Sources: Literature
Created: 30 Oct 2021, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy; microcephaly; intellectual disability

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Epilepsy
  • microcephaly
  • intellectual disability
OMIM
602098
Clinvar variants
Variants in PLK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Oct 2021, Gel status: 0

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

Dmitrijs Rots (RadboudUMC)

gene: PLK1 was added gene: PLK1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: PLK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLK1 were set to PMID: 33875846 Phenotypes for gene: PLK1 were set to Epilepsy; microcephaly; intellectual disability Review for gene: PLK1 was set to GREEN