Possible mitochondrial disorder - nuclear genes
Gene: LARS2

LARS2 (leucyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000011376
EnsemblGeneIds (GRCh37): ENSG00000011376
OMIM: 604544, Gene2Phenotype
LARS2 is in 14 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Hydrops, lactic acidosis, and sideroblastic anemia, 617021; Perrault syndrome 4, 615300

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 2 Mar 2016, 12:49 p.m.

Comment on list classification: Promoted from red to green due to expert review, and it is a probable DD gene for Perrault syndrome. It is a green gene on the reviewed congenital hearing impairment panel.
Created: 2 Mar 2016, 12:48 p.m.

Created: 2 Mar 2016, 12:48 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.439

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:31 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Perrault syndrome 4, OMIM:615300
Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
Multiple respiratory chain complex deficiencies (disorders of protein synthesis

OMIM

604544

Clinvar variants

Variants in LARS2

Penetrance

None

Panels with this gene

History Filter Activity

13 Apr 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: LARS2 were changed from ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021; Perrault syndrome 4, 615300 to Perrault syndrome 4, OMIM:615300; Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); Multiple respiratory chain complex deficiencies (disorders of protein synthesis

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: LARS2 was added gene: LARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LARS2 were set to ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021; Perrault syndrome 4, 615300

Possible mitochondrial disorder - nuclear genes Gene: LARS2