Mitochondrial disorders
Gene: NDUFV2Comment on mode of inheritance: Confirmed on OMIM.Created: 8 Feb 2016, 2:57 p.m.
Comment on list classification: Expert review suggests this gene should be promoted from amber.Created: 8 Feb 2016, 2:55 p.m.
Phenotypes for gene: NDUFV2 were changed from Isolated complex I deficiency; Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency to Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229
Victorian Clinical Genetics Services was added to NDUFV2. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Mode of inheritance for NDUFV2 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for NDUFV2 were set to Isolated complex I deficiency; Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene NDUFV2 was changed to BIALLELIC, autosomal or pseudoautosomal
NDUFV2 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 NDUFV2 was changed to BIALLELIC, autosomal or pseudoautosomal
NDUFV2 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 NDUFV2 was changed to BIALLELIC, autosomal or pseudoautosomal
NDUFV2 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
NDUFV2 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