Likely inborn error of metabolism - targeted testing not possible
Gene: LARS
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 upgrade LARS1 from Red to Green.Created: 21 Oct 2019, 12:50 p.m. | Last Modified: 21 Oct 2019, 12:50 p.m.
Panel Version: 1.366
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Infantile liver failure syndrome 1, 615438
Publications
Added new-gene-name tag, new approved HGNC gene symbol for LARS is LARS1Created: 6 Sep 2019, 2:53 p.m. | Last Modified: 6 Sep 2019, 2:53 p.m.
Panel Version: 1.262
Phenotypes for gene: LARS were changed from ?Infantile liver failure syndrome 1, 615438 to ?Infantile liver failure syndrome 1, 615438
Publications for gene: LARS were set to 28774368; 30349989; 22607940
Phenotypes for gene: LARS were changed from to ?Infantile liver failure syndrome 1, 615438
Publications for gene: LARS were set to
Mode of inheritance for gene: LARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: lars has been classified as Green List (High Evidence).
Tag new-gene-name tag was added to gene: LARS.
Sarah Leigh: Associated with phenotype in O
gene: LARS was added gene: LARS was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: LARS was set to Unknown