Mitochondrial disorders
Gene: NDUFA4Comment 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
Publications
Phenotypes for gene: NDUFA4 were changed from Isolated complex IV deficiency; No OMIM phenotype to Isolated complex IV deficiency; No OMIM phenotype
Publications for gene: NDUFA4 were set to PMID: 23746447
Mode of inheritance for gene: NDUFA4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: ndufa4 has been classified as Green List (High Evidence).
Source NHS GMS was added to NDUFA4. Source Expert Review Green was added to NDUFA4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Victorian Clinical Genetics Services was added to NDUFA4. Panel: Mitochondrial disorders
Publications for NDUFA4 were set to PMID: 23746447
Publications for NDUFA4 were set to PMID: 23746447; 25629079
This gene has been classified as Amber List (Moderate Evidence).
Publications for NDUFA4 were set to PMID: 23746447
NDUFA4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
NDUFA4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
NDUFA4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen