Inborn errors of metabolismGene: NDUFA4
Comment on phenotypes: No OMIM phenotype (23/05/2019).
Created: 23 May 2019, 2:22 p.m.
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: 1 family (4 affecteds) reported with functional studies; also London team have diagnosed a second unrelated family; note that this is a Complex IV subunit.
From panesl: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex IV deficiency (Version 0.40).
Created: 23 May 2019, 2:19 p.m.
Single reported family only, a lot of functional evidence. Does not meet criteria for Green at present.
Created: 31 Aug 2018, 4:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source Expert Review Green was added to NDUFA4. Mode of inheritance for gene NDUFA4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Isolated complex IV deficiency; No OMIM phenotype for gene: NDUFA4 Publications for gene NDUFA4 were changed from PMID: 23746447 to 23746447; 29636225 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Sarah Leigh: Associated with relevant pheno
gene: NDUFA4 was added gene: NDUFA4 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: NDUFA4 was set to Unknown Publications for gene: NDUFA4 were set to PMID: 23746447 Phenotypes for gene: NDUFA4 were set to Isolated complex IV deficiency; No OMIM phenotype