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  2. Respiratory ciliopathies including non-CF bronchiectasis
  3. PLK4
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Respiratory ciliopathies including non-CF bronchiectasis

Gene: PLK4

Red List (low evidence)
PLK4 (polo like kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000142731
EnsemblGeneIds (GRCh37): ENSG00000142731
OMIM: 605031, Gene2Phenotype
PLK4 is in 10 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Two PLK4 variants reported in a case of primary ciliary dyskinesia (PMID: 34556108).
Sources: Literature
Created: 18 Oct 2021, 4:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive 2 OMIM:616171; microcephaly and chorioretinopathy 2 MONDO:0014516

Publications

Created: 18 Oct 2021, 4:28 p.m.

Panel version: 1.48

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive 2 OMIM:616171
  • microcephaly and chorioretinopathy 2 MONDO:0014516
OMIM
605031
Clinvar variants
Variants in PLK4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Oct 2021, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PLK4 were set to 22503633; 34556108

18 Oct 2021, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: PLK4 was added gene: PLK4 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: PLK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLK4 were set to 22503633; 34556108 Phenotypes for gene: PLK4 were set to Microcephaly and chorioretinopathy, autosomal recessive 2 OMIM:616171; microcephaly and chorioretinopathy 2 MONDO:0014516 Review for gene: PLK4 was set to RED