Mitochondrial disorders
Gene: NSUN3
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 12:16 p.m. | Last Modified: 1 Feb 2023, 12:16 p.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: 2.123
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 48, OMIM: 619012
Publications
Two families reported, some functional data. OMIM have assigned a disease entity.Created: 20 Sep 2020, 11:03 p.m. | Last Modified: 20 Sep 2020, 11:03 p.m.
Panel Version: 2.8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 48, MIM# 619012
Publications
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412
Tag Q3_22_rating was removed from gene: 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 No OMIM phenotype 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 Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber 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 No OMIM phenotype