1. Genes and Genomic Entities
  2. NUP107

NUP107

nucleoporin 107
OMIM: 607617, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Amber NUP107 in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.71

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Gonadal dysgenesis
Green NUP107 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.124

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephrotic syndrome, type 11 616730
Green NUP107 in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Galloway-Mowat syndrome 7, OMIM:618348
Green NUP107 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
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME
Green NUP107 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • NUP107-related steroid resistant nephrotic syndrome with microcephaly, developmental delay and simplified gyration (Galloway-Mowat syndrome), OMIM:618348
    Amber NUP107 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
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME
    Green NUP107 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 11 #616730