NXN

nucleoredoxin
OMIM: 612895, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green NXN in Mendeliome


Version 1.4230

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Robinow syndrome, autosomal recessive 2 618529

Green NXN in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.402

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Robinow syndrome, autosomal recessive 2 618529

Green NXN in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.82

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Robinow syndrome, autosomal recessive 2 MIM#618529

    Green NXN in Fetal anomalies


    Version 1.523

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Robinow syndrome, autosomal recessive 2, OMIM:618529
    • Robinow syndrome, autosomal recessive 2, MONDO:0032800