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  2. Miscellaneous Metabolic Disorders
  3. LARS
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Miscellaneous Metabolic Disorders

Gene: LARS

Green List (high evidence)
LARS (leucyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000133706
EnsemblGeneIds (GRCh37): ENSG00000133706
OMIM: 151350, Gene2Phenotype
LARS is in 11 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

7 families reported
Sources: NHS GMS
Created: 5 Feb 2021, 3:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infantile liver failure syndrome 1 MIM#615438; disorder of leucine metabolism

Publications

Created: 5 Feb 2021, 3:32 a.m.

Panel version: 0.196

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Infantile liver failure syndrome 1 MIM#615438
  • disorder of leucine metabolism
OMIM
151350
Clinvar variants
Variants in LARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lars has been classified as Green List (High Evidence).

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lars has been classified as Green List (High Evidence).

5 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: LARS was added gene: LARS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARS were set to 22607940; 30349989; 28774368 Phenotypes for gene: LARS were set to Infantile liver failure syndrome 1 MIM#615438; disorder of leucine metabolism Review for gene: LARS was set to GREEN