PanelApp (staging)
  1. Genes and Genomic Entities
  2. NFS1

NFS1

NFS1, cysteine desulfurase
OMIM: 603485, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green NFS1 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 52, MIM#619386
  • Complex II/III deficiency
  • multisystem organ failure

Green NFS1 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.969

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Combined oxidative phosphorylation deficiency 52, MIM#619386
    • Complex II/III deficiency
    • multisystem organ failure