Optic neuropathy
Gene: NSUN3
NSUN3 (NOP2/Sun RNA methyltransferase family member 3)
EnsemblGeneIds (GRCh38): ENSG00000178694
EnsemblGeneIds (GRCh37): ENSG00000178694
OMIM: 617491, Gene2Phenotype
NSUN3 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000178694
EnsemblGeneIds (GRCh37): ENSG00000178694
OMIM: 617491, Gene2Phenotype
NSUN3 is in 5 panels
1 review
Neringa Jurkute (MD)
PMID: 40465263
Biallelic NSUN3 variants were reported to be associated with an early onset severe mitochondrial disorder characterized by combined mitochondrial respiratory chain complex deficiency.
2 individuals from the paper presented with LHON-like phenotype;
5 with attenuated
2 syndromic
Optic atrophy was unifying feature.
PMID: 38790159
Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy
Reports early onset optic neuropathy
A follow up par
Sources: Literature, ResearchCreated: 27 Nov 2025, 8:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
optic neuropathy; optic atrophy; LHON; LHON-like
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- optic neuropathy
- optic atrophy
- LHON
- LHON-like
- OMIM
- 617491
- Clinvar variants
- Variants in NSUN3
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
27 Nov 2025, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Neringa Jurkute (MD)gene: NSUN3 was added gene: NSUN3 was added to Optic neuropathy. Sources: Literature,Research Mode of inheritance for gene: NSUN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSUN3 were set to PMID: 38790159; PMID: 40465263 Phenotypes for gene: NSUN3 were set to optic neuropathy; optic atrophy; LHON; LHON-like Mode of pathogenicity for gene: NSUN3 was set to Other Review for gene: NSUN3 was set to GREEN