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Intellectual disability

Gene: LARS2

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: While a few cases with neurological symptoms including developmental delay or neurologic decline have been reported (PMID: 29205794; 30737337; 32442335), this manifestation is part of a broader phenotype where cognitive impairment is unlikely to represent the main feature. In the majority of cases, cognitive function is preserved.

Therefore, rating Amber on this panel. The phenotypes associated with LARS2 are better represented in other panels (e.g. Hearing loss) where this gene is already Green.
Created: 13 Apr 2021, 8:48 a.m. | Last Modified: 13 Apr 2021, 9:04 a.m.
Panel Version: 3.1006
Created: 13 Apr 2021, 8:48 a.m.
Last Modified: 13 Apr 2021, 9:04 a.m.
Panel version: 3.1006

Zornitza Stark (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.

Some of the intermediate phenotypes may be pertinent to this panel.
Created: 11 Apr 2021, 7:30 a.m. | Last Modified: 11 Apr 2021, 7:30 a.m.
Panel Version: 3.1003

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 11 Apr 2021, 7:30 a.m.
Last Modified: 11 Apr 2021, 7:30 a.m.
Panel version: 3.1003

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Perrault syndrome 4, OMIM:615300
  • Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
  • Leukodystrophy
OMIM
604544
Clinvar variants
Variants in LARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Apr 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: LARS2 were set to

13 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: lars2 has been classified as Amber List (Moderate Evidence).

13 Apr 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: LARS2 were changed from to Perrault syndrome 4, OMIM:615300; Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021; Leukodystrophy

13 Apr 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: LARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal

28 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: LARS2 was added gene: LARS2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services Mode of inheritance for gene: LARS2 was set to