PLK4

polo like kinase 4
OMIM: 605031, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PLK4 in Mendeliome


Version 2.0

1 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 2.0

1 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 2.0

1 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 1.0

1 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 2.0

1 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 2.0

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