Primary ovarian insufficiency

Gene: AARS2

Green List (high evidence)

AARS2 (alanyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000124608
EnsemblGeneIds (GRCh37): ENSG00000124608
OMIM: 612035, Gene2Phenotype
AARS2 is in 12 panels

2 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

I am in agreement with this assessment. The functional data in the 2014 paper 24808023 confirms that missense mutations have a deleterious phenotypic effect resulting in ovarian failure.
Created: 9 Jun 2017, 1:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as green as POI is part of the clinical spectrum caused by biallelic mutations in AARS2
Created: 22 May 2017, 9:02 a.m.
POI is part of the syndrome caused by biallelic mutations in AARS2. Phenotype associated in OMIM.
Created: 19 May 2017, 2:08 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy, progressive, with ovarian failure 615889

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

Added New Source

Arianna Tucci (Genomics England Curator)

AARS2 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature

19 May 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

AARS2 was created by arianna