PanelApp (stage)
  1. Genes and Genomic Entities
  2. NUP88

NUP88

nucleoporin 88
OMIM: 602552, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green NUP88 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Fetal akinesia deformation sequence 4, MIM# 618393

    Green NUP88 in Mendeliome


    Version 1.1891

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Fetal akinesia deformation sequence 4, MIM# 618393

    Green NUP88 in Multiple pterygium syndrome_Fetal akinesia sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.5

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Fetal akinesia deformation sequence 4, MIM# 618393

    Green NUP88 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Fetal akinesia deformation sequence 4, MONDO:0100104
    • Fetal akinesia deformation sequence 4, OMIM:618393