Possible mitochondrial disorder - nuclear genes
Gene: NDUFA4
Updated information and Green review collated 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.Created: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency
Publications
Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.Created: 10 May 2019, 1:56 p.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 1:52 p.m.
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: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
No OMIM phenotype
Publications
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
Publications
Phenotypes for gene: NDUFA4 were changed from No OMIM phenotype to No OMIM phenotype; Mitochondrial complex IV deficiency
Gene: ndufa4 has been classified as Green List (High Evidence).
Gene: ndufa4 has been classified as Amber List (Moderate Evidence).
gene: NDUFA4 was added gene: NDUFA4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFA4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA4 were set to 23746447; 29636225 Phenotypes for gene: NDUFA4 were set to No OMIM phenotype