Mitochondrial disorders
Gene: MRPS22Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 2 Mar 2016, 12:56 p.m.
Comment on list classification: Promoted from red to green due to expert review, and it is a probable DD gene for combined oxidative phosphorylation deficiency 5.Created: 2 Mar 2016, 12:56 p.m.
Victorian Clinical Genetics Services was added to MRPS22. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for MRPS22 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 5, 611719
Mode of inheritance for MRPS22 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
MRPS22 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
MRPS22 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
MRPS22 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen