Primary ovarian insufficiency

Gene: LARS2

Green List (high evidence)

LARS2 (leucyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000011376
EnsemblGeneIds (GRCh37): ENSG00000011376
OMIM: 604544, Gene2Phenotype
LARS2 is in 13 panels

2 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Another Perrault syndrome 1 gene associated with POI.
Created: 9 Jun 2017, 3:13 p.m.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Marked as green as biallelic mutations cause Perrault syndrome, a syndromic form of POI
Created: 22 May 2017, 9:46 a.m.
POI can be a feature of Perrault syndrome
Created: 19 May 2017, 2:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 4 615300

Publications

History Filter Activity

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