Primary ovarian insufficiency
Gene: LARS2
LARS2 (leucyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000011376
EnsemblGeneIds (GRCh37): ENSG00000011376
OMIM: 604544, Gene2Phenotype
LARS2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000011376
EnsemblGeneIds (GRCh37): ENSG00000011376
OMIM: 604544, Gene2Phenotype
LARS2 is in 14 panels
2 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Another Perrault syndrome 1 gene associated with POI.Created: 9 Jun 2017, 3:13 p.m.
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as green as biallelic mutations cause Perrault syndrome, a syndromic form of POICreated: 22 May 2017, 9:46 a.m.
POI can be a feature of Perrault syndromeCreated: 19 May 2017, 2:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome 4 615300
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Perrault syndrome 4, OMIM:615300
- OMIM
- 604544
- Clinvar variants
- Variants in LARS2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Ataxia and cerebellar anomalies - narrow panel
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Primary ovarian insufficiency
- Rare anaemia
- Monogenic hearing loss
- Adult onset leukodystrophy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Fetal hydrops
History Filter Activity
13 Apr 2021, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: LARS2 were changed from Perrault syndrome 4 615300 to Perrault syndrome 4, OMIM:615300
31 May 2017, Gel status: 4
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoting to Version 1 on 31-05-2017, after internal curation and review.
22 May 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
22 May 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
19 May 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)LARS2 was created by arianna
19 May 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)LARS2 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature