Mitochondrial disorders
Gene: ELAC2Comment on mode of inheritance: Sourced from OMIM and G2P.Created: 2 Mar 2016, 11:47 a.m.
Comment on list classification: Promoted from red to green due to a green review, and it is a confirmed DD gene for infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency.Created: 2 Mar 2016, 11:47 a.m.
Victorian Clinical Genetics Services was added to ELAC2. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for ELAC2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 17, 615440; infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency
Mode of inheritance for ELAC2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ELAC2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
ELAC2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
ELAC2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen