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Undiagnosed metabolic disorders

Gene: LARS

Green List (high evidence)

LARS (leucyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000133706
EnsemblGeneIds (GRCh37): ENSG00000133706
OMIM: 151350, Gene2Phenotype
LARS is in 3 panels

1 review

Catherine Snow (Genomics England)

Green List (high evidence)

Added new-gene-name tag, new approved HGNC gene symbol for LARS is LARS1
Created: 21 Oct 2019, 1:03 p.m. | Last Modified: 21 Oct 2019, 1:03 p.m.
Panel Version: 1.392
LARS1 has a relevant phenotype and is in OMIM, but not in Gene2Phenotype. PMID: 30349989 describes a premature girl who was identified to have compound hetrozygous variants in LARS1, this has caused infantile liver failure syndrome, type 1 (ILFS1). The paper also summarised the clinical features of reported patients with infantile liver failure syndrome type 1 caused by cytosolic leucine-tRNA synthetase deficiency, in total 6 compound hetrozygous variants identified in 14 patients in 7 families. Sufficient variants and relevant phenotype to classify LARS1 as Green.
Sources: Expert Review
Created: 21 Oct 2019, 1 p.m. | Last Modified: 21 Oct 2019, 1:01 p.m.
Panel Version: 1.392

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Infantile liver failure syndrome 1, 615438

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • ?Infantile liver failure syndrome 1, 615438
Tags
new-gene-name
OMIM
151350
Clinvar variants
Variants in LARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

21 Oct 2019, Gel status: 1

Added Tag

Catherine Snow (Genomics England)

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

21 Oct 2019, Gel status: 1

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

Catherine Snow (Genomics England)

gene: LARS was added gene: LARS was added to Undiagnosed metabolic disorders. Sources: Expert Review Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARS were set to 28774368; 30349989; 22607940 Phenotypes for gene: LARS were set to ?Infantile liver failure syndrome 1, 615438 Review for gene: LARS was set to GREEN