Mitochondrial disorders
Gene: NDUFAF5Comment on mode of inheritance: PMID: 19542079 and PMID: 18940309 both report homozygous mutations in this gene.Created: 8 Feb 2016, 2:48 p.m.
Comment on list classification: Reviews suggest this should be promoted from amber to green.Created: 8 Feb 2016, 2:44 p.m.
Victorian Clinical Genetics Services was added to NDUFAF5. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for NDUFAF5 were set to Isolated complex I deficiency; Mitochondrial complex 1 deficiency, 252010; Mitochondrial Diseases
Publications for NDUFAF5 were set to PMID: 19542079; 18940309
Mode of inheritance for NDUFAF5 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
NDUFAF5 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
NDUFAF5 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
NDUFAF5 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
NDUFAF5 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory