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  3. PLK4
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Growth failure

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Microcephaly and chorioretinopathy-2 is characterized by delayed psychomotor development, visual impairment, and short stature (-8SD reported).
Created: 16 Aug 2021, 6:35 a.m. | Last Modified: 16 Aug 2021, 6:35 a.m.
Panel Version: 0.154

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 16 Aug 2021, 6:35 a.m.
Last Modified: 16 Aug 2021, 6:35 a.m.
Panel version: 0.154

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Microcephaly and chorioretinopathy 2, MONDO:0014516
  • Microcephaly and chorioretinopathy, autosomal recessive, 2, #MIM:616171
OMIM
605031
Clinvar variants
Variants in PLK4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Aug 2021, 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).

16 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLK4 were changed from microcephaly and chorioretinopathy 2, MONDO:0014516; Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171 to Microcephaly and chorioretinopathy 2, MONDO:0014516; Microcephaly and chorioretinopathy, autosomal recessive, 2, #MIM:616171

16 Aug 2021, 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).

19 Jul 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLK4 was added gene: PLK4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber Mode of inheritance for gene: PLK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLK4 were set to 27650967; 25320347; 25344692 Phenotypes for gene: PLK4 were set to microcephaly and chorioretinopathy 2, MONDO:0014516; Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171