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  3. LARS
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Cholestasis

Gene: LARS

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Comment when marking as ready: HGNC approved name is LARS1
Created: 27 Jul 2020, 10:03 a.m. | Last Modified: 27 Jul 2020, 10:03 a.m.
Panel Version: 0.30
Six unrelated families reported in the literature, reviewed in PMID: 30349989. However, presenting phenotype is that of liver failure rather than cholestasis.
Created: 15 Apr 2020, 8:18 p.m. | Last Modified: 9 Aug 2020, 3:24 a.m.
Panel Version: 0.96

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infantile liver failure syndrome 1, MIM# 615438

Publications

Created: 15 Apr 2020, 8:18 p.m.
Last Modified: 9 Aug 2020, 3:24 a.m.
Panel version: 0.96

Anna Le Fevre (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Infantile liver failure syndrome 1, 615438

Publications

Created: 15 Apr 2020, 12:44 p.m.
Last Modified: 15 Apr 2020, 12:44 p.m.
Panel version: 0.6

Details

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

History Filter Activity

9 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Jul 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LARS were changed from ?Infantile liver failure syndrome 1, 615438 to Infantile liver failure syndrome 1, MIM# 615438

15 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Apr 2020, Gel status: 0

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

Anna Le Fevre (Victorian Clinical Genetics Services)

gene: LARS was added gene: LARS was added to Cholestasis. Sources: NHS GMS 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