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  3. PLK1
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Microcephaly

Gene: PLK1

Green List (high evidence)
PLK1 (polo like kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000166851
EnsemblGeneIds (GRCh37): ENSG00000166851
OMIM: 602098, Gene2Phenotype
PLK1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 individuals reported.
Sources: Literature
Created: 3 Dec 2021, 10:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy; microcephaly; intellectual disability

Publications

Created: 3 Dec 2021, 10:01 a.m.

Panel version: 1.78

Details

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

History Filter Activity

3 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plk1 has been classified as Green List (High Evidence).

3 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plk1 has been classified as Green List (High Evidence).

3 Dec 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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