1. Genes and Genomic Entities
  2. NFS1

NFS1

NFS1, cysteine desulfurase
OMIM: 603485, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green NFS1 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.98
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Combined oxidative phosphorylation deficiency 52, OMIM:619386
    Tags
    • treatable
    Green NFS1 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.23
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Combined oxidative phosphorylation deficiency 52, OMIM:619386
    Green NFS1 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.46
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Combined oxidative phosphorylation deficiency 52, OMIM:619386