Mitochondrial disorders
Gene: WARS2Comment 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
Phenotypes
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710
Publications
Variants in this GENE are reported as part of current diagnostic practice
no mutation reports in literature; good candidate geneCreated: 6 Feb 2016, 11:38 p.m.
Phenotypes for gene: WARS2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710
Publications for gene: WARS2 were set to
Mode of inheritance for gene: WARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: wars2 has been classified as Green List (High Evidence).
WARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list