Mitochondrial disorders
Gene: LARS2Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 2 Mar 2016, 12:49 p.m.
Comment on list classification: Promoted from red to green due to expert review, and it is a probable DD gene for Perrault syndrome. It is a green gene on the reviewed congenital hearing impairment panel.Created: 2 Mar 2016, 12:48 p.m.
Phenotypes for gene: LARS2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Perrault syndrome 4, 615300; Perrault syndrome to Perrault syndrome 4, OMIM:615300; Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); Multiple respiratory chain complex deficiencies (disorders of protein synthesis
Victorian Clinical Genetics Services was added to LARS2. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for LARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Perrault syndrome 4, 615300; Perrault syndrome
Mode of inheritance for LARS2 was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for LARS2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
LARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
LARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
LARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen