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Early onset or syndromic epilepsy
Gene: AARS

AARS (alanyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000090861
EnsemblGeneIds (GRCh37): ENSG00000090861
OMIM: 601065, Gene2Phenotype
AARS is in 15 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

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

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

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

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

Created: 4 Jun 2018, 12:13 p.m.

Panel version: 0.118

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

Developmental and epileptic encephalopathy 29, OMIM:616339
Developmental and epileptic encephalopathy, 29, MONDO:0014593

Tags

new-gene-name

OMIM

601065

Clinvar variants

Variants in AARS

Penetrance

None

Publications

Panels with this gene

History Filter Activity

18 Dec 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AARS were changed from Epileptic encephalopathy, early infantile, 29 616339 to Developmental and epileptic encephalopathy 29, OMIM:616339; Developmental and epileptic encephalopathy, 29, MONDO:0014593

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