NSUN3

NOP2/Sun RNA methyltransferase family member 3
OMIM: 617491, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green NSUN3 in Mendeliome


Version 1.2789

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 48, MIM# 619012

Green NSUN3 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.986

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Combined oxidative phosphorylation deficiency 48, MIM# 619012

    Green NSUN3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.202

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 48, MIM# 619012