1. Panels
  2. Likely inborn error of metabolism
  3. LARS2
Genes in panel
Prev Next

Likely inborn error of metabolism

Gene: LARS2

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

2 reviews

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
  • London North GLH
  • 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
Publications
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 Perrault syndrome; Perrault syndrome 4, 615300; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 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

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to LARS2. Source London North GLH was added to LARS2.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Perrault syndrome; Perrault syndrome 4, 615300; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: LARS2 Publications for gene LARS2 were changed from to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: LARS2 was added gene: LARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LARS2 were set to Perrault syndrome; Perrault syndrome 4, 615300; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)