Inborn errors of metabolismGene: RARS2
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, 11:38 a.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green. Confirmed DD gene for Pontocerebellar hypoplasia type 6.
Created: 12 Feb 2016, 11:37 a.m.
Source NHS GMS was added to RARS2. Source London North GLH was added to RARS2.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Pontocerebellar hypoplasia, type 6, 611523; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: RARS2 Publications for gene RARS2 were changed from to 27604308
gene: RARS2 was added gene: RARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)