UNC50

unc-50 inner nuclear membrane RNA binding protein
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber UNC50 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.417

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Arthrogryposis multiplex congenita

    Amber UNC50 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Arthrogryposis multiplex congenita

    Amber UNC50 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Expert list
    Phenotypes
    • Arthrogryposis multiplex congenita