POC5

POC5 centriolar protein
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green POC5 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Idiopathic scoliosis
  • retinitis pigmentosa
  • short stature
  • microcephaly
  • recurrent glomerulonephritis

Amber POC5 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 Amber
    • RetNet
    Phenotypes
    • retinitis pigmentosa
    • short stature
    • microcephaly
    • recurrent glomerulonephritis