Hereditary ataxia with onset in adulthood
Gene: AARS

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

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

I don't know

On Oxford panel. Neuropathy panel. Cerebral atrophy is included in the HPO terms.
Created: 27 Apr 2019, 7:39 p.m.

Created: 27 Apr 2019, 7:39 p.m.

Panel version: 1.11

Louise Daugherty (Genomics England Curator)

I don't know

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: 1.196

Upgraded rating from Red to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.

Panel Version: 1.188

Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.196

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

No ataxia phenotype in humans yet reported, knockout mouse displays ataxia
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
CMT 2N 613287; EIEE29, 616339

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber
London North GLH
NHS GMS
Wessex and West Midlands GLH
Hereditary ataxia v1.148

Phenotypes

Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287
Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212

Tags

new-gene-name

OMIM

601065

Clinvar variants

Variants in AARS

Penetrance

None

Panels with this gene

History Filter Activity

18 Dec 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AARS were changed from CMT 2N 613287; EIEE29, 616339 to Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287; Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212

6 Sep 2019, Gel status: 2