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Genetic epilepsy syndromes

Gene: AARS2

Red List (low evidence)

AARS2 (alanyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000124608
EnsemblGeneIds (GRCh37): ENSG00000124608
OMIM: 612035, Gene2Phenotype
AARS2 is in 13 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

AR progressive leukoencephalopathy with ovarian failure and AR combined oxidative phosphorylation deficiency 8 (COXPD8). Seizures/epilepsy not a reported feature on OMIM. Dallabona et al, 2014 - 1 patient (P3 - reported as having seizures), not a major feature of disease.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 8, 614096; Leukoencephalopathy progressive with ovarian failure, 615889

Publications

Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on review by Arianna Tucci (Genomics England Curator)
Created: 16 Jul 2018, 3:17 p.m.

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

epilepsy only described in one patient (in PMID 24808023). not a major feaure of AARS2 .
Created: 29 Jun 2018, 1:37 p.m.

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to AARS2.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to AARS2.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Arianna Tucci: epilepsy only described in one

16 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: aars2 has been classified as Red List (Low Evidence).

16 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: aars2 has been classified as Red List (Low Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to AARS2. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

AARS2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

AARS2 was created by Sarah Leigh