Likely inborn error of metabolism - targeted testing not possible
Gene: NDUFA8
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 Mitochondrial panels (R353 and 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. Three individuals from two unrelated families now reported in literature with supportive functional studies (PMID: 32385911; 33153867).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
Mitochondrial complex I deficiency, nuclear type 37, OMIM: 619272
Publications
Comment on list classification: Candidate gene, but no currently known pathogenic mutations, therefore this gene should be demoted to red.Created: 8 Feb 2016, 2:33 p.m.
no pathogenic mutations reported to date but good candidate gene for mitochondrial complex I deficiencyCreated: 3 Feb 2016, 5:30 p.m.
Tag Q3_22_rating was removed from gene: NDUFA8.
Source NHS GMS was added to NDUFA8. Source Expert Review Green was added to NDUFA8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: NDUFA8 were changed from Mitochondrial Diseases; No OMIM phenotype; Isolated complex I deficiency to Mitochondrial complex I deficiency, nuclear type 37, OMIM:619272
Publications for gene: NDUFA8 were set to
Mode of inheritance for gene: NDUFA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Tag Q3_22_rating tag was added to gene: NDUFA8.
Sarah Leigh: Associated with phenotype in O
gene: NDUFA8 was added gene: NDUFA8 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFA8 was set to Unknown Phenotypes for gene: NDUFA8 were set to Mitochondrial Diseases; No OMIM phenotype; Isolated complex I deficiency