Inborn errors of metabolismGene: WARS2
Comment on list classification: Promoted from Red to Green due to new evidence and expert review. Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Green.
Created: 25 Feb 2019, 5:35 p.m.
Multiple unrelated individuals with bi-alllelic variants in this gene reported in the literature now.
Created: 1 Sep 2018, 5:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710
Variants in this GENE are reported as part of current diagnostic practice
no mutation reports in literature; good candidate gene
Created: 6 Feb 2016, 11:38 p.m.
Source Expert Review Green was added to WARS2. Mode of inheritance for gene WARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 for gene: WARS2 Publications for gene WARS2 were changed from to 28650581; 28905505; 28236339 Rating Changed from Red List (low evidence) to Green List (high evidence)
Sarah Leigh: Associated with phenotype in O
gene: WARS2 was added gene: WARS2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: WARS2 was set to Unknown Phenotypes for gene: WARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)