Targeted gene/phenotype/disorder under study:
OMIM # 619738
Biallelic WARS2 variants were first associated with a neurodevelopmental syndrome with intellectual disability, ataxia, athetosis, and muscle weakness in two Iranian siblings in 2017. Since then, reports of additional 29 genetically confirmed cases from 15 families have expanded the phenotype of WARS2-related disorder, with the mitochondrial encephalopathy NEMMLAS (“NEurodevelopmental disorder, Mitochondrial, with abnormal Movements and Lactic Acidosis, with or without Seizures”) lying on the severe end of the spectrum. We aim at deep phenotyping, defining the natural history, and potentially exploring functional studies of WARS2-related disorder by collecting a cohort of patients with bi-allelic variants in the WARS2 gene.
Please include cases carrying the hypomorphic variant ENST00000235521.4(WARS2):c.37T>G p.(Trp13Gly) in compound heterozygosity with another variant.
Dr Francesca Magrinelli – firstname.lastname@example.org
University College London, UK
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No or in a second step
3- Linked to a translational/basic research project: Yes