PLK4

polo like kinase 4
OMIM: 605031, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green PLK4 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.74

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 1.216

Component of the following Super Panels:

  • Paediatric disorders v4.401
  • review Not set
    Sources
    Phenotypes
    • Microcephalic primordial dwarfism

    Green PLK4 in Fetal anomalies


    Version 0.348

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

    Green PLK4 in DDG2P


    Version 1.148

    Component of the following Super Panels:

  • Paediatric disorders v4.401
  • 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 2.1102

    Component of the following Super Panels:

  • Paediatric disorders v4.401
  • White matter disorders - childhood onset v4.233
  • Hypotonic infant with a likely central cause v3.1053
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY