Ataxia - paediatric
Gene: LARS2EnsemblGeneIds (GRCh38): ENSG00000011376
EnsemblGeneIds (GRCh37): ENSG00000011376
OMIM: 604544, Gene2Phenotype
LARS2 is in 17 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Bi-allelic variants in LARS2 cause a range of phenotypes, with some individuals displaying neurological features, including at least three individuals reported with ataxia (reviewed in PMID 32423379)Created: 12 Sep 2020, 4:51 a.m. | Last Modified: 12 Sep 2020, 4:51 a.m.
Panel Version: 0.241
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome 4, MIM# 615300; Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Leukodystrophy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Perrault syndrome 4
- Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021
- Leukodystrophy
- OMIM
- 604544
- Clinvar variants
- Variants in LARS2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Red cell disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- BabyScreen+ newborn screening
- Mitochondrial disease
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Differences of Sex Development
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Deafness_Isolated
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Hereditary Spastic Paraplegia - paediatric
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lars2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LARS2 were changed from Perrault syndrome 4 to Perrault syndrome 4; Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Leukodystrophy
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: LARS2 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: LARS2 was added gene: LARS2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,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