Possible mitochondrial disorder - nuclear genes
Gene: LARS2
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Hydrops, lactic acidosis, and sideroblastic anemia, 617021; Perrault syndrome 4, 615300
Comment 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 ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021; Perrault syndrome 4, 615300 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
gene: LARS2 was added gene: LARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LARS2 were set to ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021; Perrault syndrome 4, 615300