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Intellectual disability

Gene: LARS

Amber List (moderate evidence)

LARS (leucyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000133706
EnsemblGeneIds (GRCh37): ENSG00000133706
OMIM: 151350, Gene2Phenotype
LARS is in 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for LARS is LARS1
Created: 8 Dec 2020, 10:58 a.m. | Last Modified: 8 Dec 2020, 10:58 a.m.
Panel Version: 3.638
Comment on list classification: New gene added by Konstantinos Varvagiannis. Developmental delay is prevalent among affected individuals, and there are sufficient unrelated cases (>3) presenting with relevant severity to this panel. This may serve as a possible route for diagnostic testing as currently there are no relevant panels for detecting the hepatic phenotype of the disease presentation, and so there may be value in rating Green at the next major panel review (added 'for-review tag).
Created: 8 Dec 2020, 10:55 a.m. | Last Modified: 8 Dec 2020, 10:55 a.m.
Panel Version: 3.638

Konstantinos Varvagiannis (Other)

Green List (high evidence)

Please consider inclusion with amber/green rating in the current panel.

Biallelic pathogenic LARS1 variants cause Infantile liver failure syndrome 1, MIM# 615438.

Lenz et al (2020 - PMID: 32699352) review the phenotype of 25 affected individuals from 15 families.

Seizures occurred in 19/24 and were commonly associated with infections. Encephalopathic episodes (in 13 patients) accompanied by seizures up to status epilepticus occurred independently of hepatic decompensation.

In addition 22/24 presented with neurodevelopmental delay. The authors comment that cognitive impairment was present in 13/17 individuals (mild-severe) whereas most presented with learning disabilities.

These patients will be most likely investigated for their liver disease (although presentation was highly variable and/or very mild in few).

The gene encodes a cytoplasmic amino-acyl tRNA synthetase (ARS) with neurologic manifestations observed in almost all patients (and seizures / DD and ID common to other disorders due to mutations in other genes encoding for ARSs).

Please note that the HGNC approved symbol for this gene is LARS1.
Sources: Literature
Created: 27 Jul 2020, 9:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infantile liver failure syndrome 1, MIM# 615438

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Infantile liver failure syndrome 1, MIM# 615438
Tags
new-gene-name for-review
OMIM
151350
Clinvar variants
Variants in LARS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

8 Dec 2020, Gel status: 0

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag new-gene-name tag was added to gene: LARS. Tag for-review tag was added to gene: LARS.

27 Jul 2020, Gel status: 0

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

Konstantinos Varvagiannis (Other)

gene: LARS was added gene: LARS was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARS were set to 32699352 Phenotypes for gene: LARS were set to Infantile liver failure syndrome 1, MIM# 615438 Penetrance for gene: LARS were set to Complete Review for gene: LARS was set to GREEN