Mitochondrial disorders
Gene: NDUFAF2Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 8 Feb 2016, 2:41 p.m.
Comment on list classification: Expert reviewer suggests the gene should be promoted to green, and it is a probable DD gene for Leigh syndrome.Created: 8 Feb 2016, 2:39 p.m.
Victorian Clinical Genetics Services was added to NDUFAF2. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for NDUFAF2 were set to Isolated complex I deficiency; Mitochondrial complex I deficiency, 252010; Leigh syndrome, 256000; Mitochondrial Respiratory Chain Complex I Deficiency
Mode of inheritance for NDUFAF2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene NDUFAF2 was changed to BIALLELIC, autosomal or pseudoautosomal
NDUFAF2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene NDUFAF2 was changed to BIALLELIC, autosomal or pseudoautosomal
NDUFAF2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene NDUFAF2 was changed to BIALLELIC, autosomal or pseudoautosomal
NDUFAF2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
NDUFAF2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services