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Genetic epilepsy syndromes

Gene: AARS

Green List (high evidence)

AARS (alanyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000090861
EnsemblGeneIds (GRCh37): ENSG00000090861
OMIM: 601065, Gene2Phenotype
AARS is in 13 panels

4 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for AARS is AARS1
Created: 6 Sep 2019, 11:50 a.m. | Last Modified: 6 Sep 2019, 11:50 a.m.
Panel Version: 1.263

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: Green.
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)

Green List (high evidence)

Epileptic encephalopathy, 616339 is reported as autosomal recessive. AD EIEE 29. Simons et al 2015: 2 cases (1 case = 2 sibs) with recessive encephalopathy, comp het missense variants in the sibs: K81T & R751G - functional studies done. The other case hom for the R751G variant. On HGMD Pro - Karakaya et al, 2018 - suspected diagnosis is HMN and epilepsy - novel hom variant F958S in AARS - likely pathogenic . Nakayama et al, 2017 - 2 sibs with EIEE - compound het for a dupC and a missense change (novel) functional studies support pathogenicity.
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
Charcot-Marie-Tooth disease, 613287; Early Infantile Epileptic encephalopathy, 601065

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: Autosomal dominant variants associated with Charcot-Marie-Tooth disease, axonal, type 2N 613287
Created: 4 Jun 2018, 12:14 p.m.
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported in 3 unrelated cases, together with supportive functional studies.
Created: 4 Jun 2018, 12:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 29 616339

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 29 616339
Tags
new-gene-name
OMIM
601065
Clinvar variants
Variants in AARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Sep 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: AARS.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to AARS.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to AARS.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to AARS. Panel: Genetic Epilepsy Syndromes

4 Jun 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: AARS were set to Epileptic encephalopathy, early infantile, 29 616339

4 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: aars has been classified as Green List (High Evidence).

4 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

AARS was added to Genetic Epilepsy Syndromes panel. Sources: Literature

4 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

AARS was created by Sarah Leigh