PLK4

polo like kinase 4
OMIM: 605031, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PLK4 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171

Green PLK4 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171

Green PLK4 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171

Green PLK4 in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 0.209

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • RetNet
    Phenotypes
    • Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171

    Green PLK4 in Growth failure


    Version 1.76

    review 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

    Green PLK4 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM #616171