Likely inborn error of metabolism - targeted testing not possible
Gene: NSUN3
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.m.
Panel Version: 3.6
This gene was recently included on a gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) on behalf of GMS Mitochondrial providers, indicating that the rating should be upgraded from Amber to Green on a Mitochondrial panel (R63). As there was sufficient supporting evidence for the change, the rating should also be updated to Green on this panel at the next GMS review. Two families reported and some functional studies conducted in one case (PMIDs: 27356879; 32488845). OMIM have assigned a disease entity.Created: 30 Aug 2022, 9:08 a.m. | Last Modified: 30 Aug 2022, 9:08 a.m.
Panel Version: 2.265
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 48, OMIM: 619012
Publications
PMID: 27356879 - reports on a compound heterozygous variant resulting in a loss-of-function mutation in NSUN3 in a patient presenting with combined mitochondrial respiratory chain complex deficiency.Created: 18 Nov 2019, 3:54 p.m. | Last Modified: 18 Nov 2019, 3:56 p.m.
Panel Version: 1.406
Tag Q3_22_rating was removed from gene: NSUN3.
Source NHS GMS was added to NSUN3. Source Expert Review Green was added to NSUN3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: NSUN3 were changed from Combined mitochondrial respiratory chain complex deficiency to Combined oxidative phosphorylation deficiency 48, OMIM:619012
Publications for gene: NSUN3 were set to 27356879
Tag Q3_22_rating tag was added to gene: NSUN3.
gene: NSUN3 was added gene: NSUN3 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list 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