Adult onset leukodystrophy
Gene: LARS2EnsemblGeneIds (GRCh38): ENSG00000011376
EnsemblGeneIds (GRCh37): ENSG00000011376
OMIM: 604544, Gene2Phenotype
LARS2 is in 14 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 5:24 p.m. | Last Modified: 8 Mar 2022, 5:24 p.m.
Panel Version: 1.38
There is enough evidence for this gene to be rated GREEN at the next major review.Created: 15 Sep 2020, 5:36 p.m. | Last Modified: 15 Sep 2020, 5:36 p.m.
Panel Version: 1.5
Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for Perrault syndrome. At least 10 variants reported as compound heterozygotes in five unrelated cases whose varied phenotypes included leukodystrophy (PMIDs 32442335;30737337).Created: 15 Sep 2020, 5:35 p.m. | Last Modified: 15 Sep 2020, 5:35 p.m.
Panel Version: 1.5
Zornitza Stark (Australian Genomics)
Five individuals reported where leukodystrophy was part of LARS2-associated Perrault syndrome. Neurological decline and MRI abnormalities were primarily in adulthood.
Sources: Expert listCreated: 12 Sep 2020, 6:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Perrault syndrome 4, OMIM:615300
- Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
- Leukodystrophy
- OMIM
- 604544
- Clinvar variants
- Variants in LARS2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Primary ovarian insufficiency
- Rare anaemia
- Monogenic hearing loss
- Possible mitochondrial disorder - nuclear genes
- Fetal hydrops
- Fetal anomalies
- Adult onset leukodystrophy
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: LARS2.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to LARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: LARS2 were changed from Leukodystrophy to Perrault syndrome 4, OMIM:615300; Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021; Leukodystrophy
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: LARS2 were set to 32442335; 30737337
Added Tag
Sarah Leigh (Genomics England Curator)Tag for-review tag was added to gene: LARS2.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: lars2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: LARS2 was added gene: LARS2 was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARS2 were set to 32442335; 30737337 Phenotypes for gene: LARS2 were set to Leukodystrophy Review for gene: LARS2 was set to GREEN gene: LARS2 was marked as current diagnostic