PanelApp (staging)
  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 0.416

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

Green NUP88 in Mendeliome


Version 1.2302

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 1.313

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