1. Genes and Genomic Entities
  2. NUP85

NUP85

nucleoporin 85
OMIM: 170285, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber NUP85 in Intellectual disability


Level 2: Developmental disorders
Version 9.279
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH-SCKS)
    Green NUP85 in Proteinuric renal disease


    Level 2: Renal
    Version 5.7
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Nephrotic syndrome, type 17 #618176