Hereditary Spastic Paraplegia - paediatric
Gene: LARS2

LARS2 (leucyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000011376
EnsemblGeneIds (GRCh37): ENSG00000011376
OMIM: 604544, Gene2Phenotype
LARS2 is in 17 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Cannot find any evidence that spastic paraplegia or spasticity is a feature of the condition.
Created: 19 Apr 2020, 11:05 a.m. | Last Modified: 19 Apr 2020, 11:05 a.m.

Panel Version: 0.74

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 4 MIM#615300

Created: 19 Apr 2020, 11:05 a.m.
Last Modified: 19 Apr 2020, 11:05 a.m.
Panel version: 0.74

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Royal Melbourne Hospital

Phenotypes

Perrault syndrome 4 MIM#615300

OMIM

604544

Clinvar variants

Variants in LARS2

Penetrance

None

Panels with this gene

History Filter Activity

13 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lars2 has been classified as Red List (Low Evidence).

13 Mar 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LARS2 were changed from Perrault syndrome 4 to Perrault syndrome 4 MIM#615300

31 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: LARS2 was added gene: LARS2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LARS2 were set to Perrault syndrome 4

Hereditary Spastic Paraplegia - paediatric Gene: LARS2