Mitochondrial disorders
Gene: RMND1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 12 Feb 2016, 11:40 a.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green, and it is a probable DD gene for encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.Created: 12 Feb 2016, 11:40 a.m.
Victorian Clinical Genetics Services was added to RMND1. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for RMND1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 11, 614922; Encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect;
Mode of inheritance for RMND1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
RMND1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
RMND1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
RMND1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen