Mitochondrial disorders
Gene: LRPPRC
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: 8 Feb 2016, 1:54 p.m.
Comment on list classification: Confirmed DD gene for Leigh syndrome.Created: 8 Feb 2016, 1:54 p.m.
Victorian Clinical Genetics Services was added to LRPPRC. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for LRPPRC were set to Isolated complex IV deficiency; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Leigh syndrome, French-Canadian type, 220111; Mitochondrial Diseases
Mode of inheritance for LRPPRC was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
LRPPRC was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
LRPPRC was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
LRPPRC was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
LRPPRC was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory