Inborn errors of metabolismGene: NDUFA6
Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: PMID: 30245030 reports four unrelated children who presented with neuroradiological findings and/or elevated lactate levels, with biallelic variants in this gene, plus functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex I deficiency (Version 0.65).
Created: 23 May 2019, 2:36 p.m.
Comment on list classification: Promoted from red to green. This gene is associated with a phenotype in OMIM and is probably associated with a phenotype in Gene2Phenotype. PMID: 30245030 reported on 4 unrelated children of different ethnicity who have different variants in this gene with the associated phenotype. Therefore, there is enough evidence to promote this gene to green.
Created: 2 May 2019, 2:41 p.m.
no mutation reports in literature; good candidate gene for complex I deficiency (encodes a subunit of the enzyme)
Created: 4 Feb 2016, 7:03 p.m.
Source Expert Review Green was added to NDUFA6. Mode of inheritance for gene NDUFA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex I deficiency, nuclear type 33, 618253 for gene: NDUFA6 Publications for gene NDUFA6 were changed from to 30245030 Rating Changed from Red List (low evidence) to Green List (high evidence)
Sarah Leigh: Associated with phenotype in O
gene: NDUFA6 was added gene: NDUFA6 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFA6 was set to Unknown Phenotypes for gene: NDUFA6 were set to No OMIM phenotype; Isolated complex I deficiency