Mitochondrial disease
Gene: NSUN3EnsemblGeneIds (GRCh38): ENSG00000178694
EnsemblGeneIds (GRCh37): ENSG00000178694
OMIM: 617491, Gene2Phenotype
NSUN3 is in 2 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Second family reported with early-onset mitochondrial encephalomyopathy and seizures.Created: 20 Sep 2020, 10:59 p.m. | Last Modified: 20 Sep 2020, 10:59 p.m.
Panel Version: 0.496
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 48, MIM# 619012
Publications
Bryony Thompson (Royal Melbourne Hospital)
A single compound heterozygous case. Patient-derived fibroblasts exhibited severe defects in mitochondrial translation that can be rescued by exogenous expression of NSun3. In vitro functional assays also conducted.
Sources: NHS GMSCreated: 22 Mar 2020, 5:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
combined mitochondrial respiratory chain complex deficiency
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 48, MIM# 619012
- OMIM
- 617491
- Clinvar variants
- Variants in NSUN3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NSUN3 were changed from combined mitochondrial respiratory chain complex deficiency to Combined oxidative phosphorylation deficiency 48, MIM# 619012
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NSUN3 were set to 27356879
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nsun3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nsun3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: NSUN3 was added gene: NSUN3 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: NSUN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSUN3 were set to 27356879 Phenotypes for gene: NSUN3 were set to combined mitochondrial respiratory chain complex deficiency Review for gene: NSUN3 was set to AMBER