Severe microcephaly

Gene: PLK4

Green List (high evidence)

PLK4 (polo like kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000142731
EnsemblGeneIds (GRCh37): ENSG00000142731
OMIM: 605031, Gene2Phenotype
PLK4 is in 5 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on list classification: Recognised on G2P
12 Jan 2017, 9:55 a.m.
Mutations identified in at least three different families
12 Jan 2017, 9:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, 2 616171

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
  • Expert list
Phenotypes
  • MCPH
  • primary microcephaly
  • Microcephaly and chorioretinopathy, autosomal recessive, 2
  • MCCRP2
  • Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171
OMIM
605031
Clinvar variants
Variants in PLK4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

12 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for PLK4 were set to 25344692

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

13 Dec 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

PLK4 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen

13 Dec 2016, Gel status: 0

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

PLK4 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene PLK4 was set to BIALLELIC, autosomal or pseudoautosomal

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

PLK4 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

PLK4 was created by rfoulger