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Mitochondrial disease

Gene: LARS2

Green List (high evidence)
LARS2 (leucyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000011376
EnsemblGeneIds (GRCh37): ENSG00000011376
OMIM: 604544, Gene2Phenotype
LARS2 is in 17 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants in LARS2 cause a range of phenotypes, ranging from Perrault syndrome (deafness/POF), sometimes with neurological features, including leukodystrophy, through to severe multi-system disorder presenting with hydrops/acidosis/anaemia in infancy.
Created: 12 Sep 2020, 4:57 a.m. | Last Modified: 12 Sep 2020, 4:57 a.m.
Panel Version: 0.4386

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 4; Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Leukodystrophy

Publications

Created: 12 Sep 2020, 4:57 a.m.
Last Modified: 12 Sep 2020, 4:57 a.m.
Panel version: Imported from Mendeliome panel version 0.4386

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LARS2 was added gene: LARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: LARS2 was set to Unknown