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Fetal anomalies

Gene: PLK4

Green List (high evidence)
PLK4 (polo like kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000142731
EnsemblGeneIds (GRCh37): ENSG00000142731
OMIM: 605031, Gene2Phenotype
PLK4 is in 6 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by severe growth retardation (prenatal onset), congenital microcephaly, delayed psychomotor development, and visual impairment. Multiple patients reported from various backgrounds with biallelic truncating or missense mutations in PLK4 gene, which segregate with disease. Patient fibroblasts in one patient showed a significant reduction in centriole number and impaired spindle formation during mitosis compared to controls. Morpholino knockdown of plk4 in zebrafish resulted in a smaller body size due to decreased cell proliferation.
Created: 21 Feb 2022, 5:04 a.m. | Last Modified: 21 Feb 2022, 5:04 a.m.
Panel Version: 0.3722

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM #616171

Publications

Created: 21 Feb 2022, 5:04 a.m.
Last Modified: 21 Feb 2022, 5:04 a.m.
Panel version: 0.3722

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 unrelated families reported with autosomal recessive developmental disorder characterised by delayed psychomotor development, visual impairment, and microcephaly.
Created: 3 Sep 2020, 2:16 a.m. | Last Modified: 3 Sep 2020, 2:16 a.m.
Panel Version: 0.2940

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171

Publications

Created: 3 Sep 2020, 2:16 a.m.
Last Modified: 3 Sep 2020, 2:16 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2940

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM #616171
OMIM
605031
Clinvar variants
Variants in PLK4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plk4 has been classified as Green List (High Evidence).

21 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLK4 were changed from MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY to Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM #616171

21 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PLK4 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLK4 was added gene: PLK4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PLK4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLK4 were set to MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY