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 1.142

review Not set
Sources
  • Literature
Amber NUP88 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.1
Latest signed off version: v6.0 (1 May 2024)

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


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

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