1. Genes and Genomic Entities
  2. NSUN3

NSUN3

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels
No list NSUN3 in Optic neuropathy


Level 2: Ophthalmology
Version 6.1
Latest signed off version: v6.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Research
  • Literature
Phenotypes
  • optic neuropathy
  • optic atrophy
  • LHON
  • LHON-like
Green NSUN3 in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.4
Latest signed off version: v9.0 (6 May 2026)

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
    • Expert list
    Phenotypes
    • Combined oxidative phosphorylation deficiency 48, OMIM:619012
    Green NSUN3 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 5.4
    Latest signed off version: v5.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Combined oxidative phosphorylation deficiency 48, OMIM:619012
    Green NSUN3 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.4
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

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