Primary ovarian insufficiency
Gene: AARS2
AARS2 (alanyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000124608
EnsemblGeneIds (GRCh37): ENSG00000124608
OMIM: 612035, Gene2Phenotype
AARS2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000124608
EnsemblGeneIds (GRCh37): ENSG00000124608
OMIM: 612035, Gene2Phenotype
AARS2 is in 13 panels
2 reviews
Louise IZATT (GSTT Clinical Genetics Service)
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 AARS2Created: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Leukoencephalopathy, progressive, with ovarian failure 615889
- OMIM
- 612035
- Clinvar variants
- Variants in AARS2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Sudden death in young people
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
- Primary ovarian insufficiency
- Paediatric or syndromic cardiomyopathy
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal anomalies
- Undiagnosed metabolic disorders
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