Leukodystrophy - paediatric
Gene: WARS2EnsemblGeneIds (GRCh38): ENSG00000116874
EnsemblGeneIds (GRCh37): ENSG00000116874
OMIM: 604733, Gene2Phenotype
WARS2 is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least three affected individuals where white matter changes were a prominent feature of the phenotype.Created: 16 Sep 2020, 6:56 a.m. | Last Modified: 16 Sep 2020, 6:56 a.m.
Panel Version: 0.199
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710
- OMIM
- 604733
- Clinvar variants
- Variants in WARS2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wars2 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: WARS2 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: WARS2 was added gene: WARS2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710