PLK4

polo like kinase 4
OMIM: 605031, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green PLK4 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.8
Signed off v.2.2 on 2 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • 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

Red PLK4 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.9
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    Phenotypes
    • Microcephalic primordial dwarfism

    Green PLK4 in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY

    Green PLK4 in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY 616171

    Green PLK4 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.130
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY

    Amber PLK4 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.14
    Signed off v.2.7 on 25 Feb 2020

    review Not set
    Sources
    • NHS GMS
    • RetNet
    • Expert Review Amber

    Green PLK4 in Severe Paediatric Disorders


    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171