NXN

nucleoredoxin
OMIM: 612895, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber NXN in Limb disorders


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Robinow syndrome, autosomal recessive 2, 618529
    Tags
    • watchlist
    Green NXN in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Robinow syndrome, autosomal recessive 2, OMIM:618529
    Green NXN 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
    • Expert Review Green
    • Expert list
    Phenotypes
    • Robinow syndrome, autosomal recessive 2, OMIM:618529
    • Robinow syndrome, autosomal recessive 2, MONDO:0032800