Mitochondrial disorders
Gene: TRMU
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: As suggested by expert review.Created: 12 Feb 2016, 5:10 p.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green.Created: 12 Feb 2016, 5:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Victorian Clinical Genetics Services was added to TRMU. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for TRMU were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); {Deafness, mitochondrial, modifier of}, 580000; Liver failure, transient infantile, 613070
Mode of inheritance for TRMU was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
TRMU was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
TRMU was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
TRMU was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen