NUP88

nucleoporin 88
OMIM: 602552, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red NUP88 in COVID-19 research


Level 2: Viral research
Version 1.146

review Not set
Sources
  • Literature
Amber NUP88 in Arthrogryposis


Level 2: Neurology
Version 9.24
Latest signed off version: v9.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Fetal akinesia deformation sequence 4, OMIM:618393
  • Fetal akinesia deformation sequence 4, MONDO:0100104
Amber NUP88 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Fetal akinesia deformation sequence 4, OMIM:618393
  • Fetal akinesia deformation sequence 4, MONDO:0100104
Tags
  • watchlist