PanelApp
  1. Genes and Genomic Entities
  2. NUP85

NUP85

nucleoporin 85
OMIM: 170285, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green NUP85 in Mendeliome


Version 1.3512

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephrotic syndrome, type 17, MIM#618176

Amber NUP85 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.357

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary microcephaly

Green NUP85 in Proteinuria


Level 2: Renal and urinary tract disorders
Version 0.231

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Nephrotic syndrome, type 17, MIM#618176

    Amber NUP85 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual disability

    Amber NUP85 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Microcephaly, MONDO:0001149, NUP85-related