Hereditary ataxia
Gene: AARS
AARS (alanyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000090861
EnsemblGeneIds (GRCh37): ENSG00000090861
OMIM: 601065, Gene2Phenotype
AARS is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000090861
EnsemblGeneIds (GRCh37): ENSG00000090861
OMIM: 601065, Gene2Phenotype
AARS is in 15 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for AARS is AARS1Created: 6 Sep 2019, 11:53 a.m. | Last Modified: 6 Sep 2019, 11:53 a.m.
Panel Version: 1.202
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Plenty of evidence for involvement with CMT. No reports of ataxia in humans. Mouse 'sticky' ataxia model is an AARS knockout. Delete.Created: 24 Nov 2015, 4:56 p.m.
Mode of inheritance
Unknown
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287
- Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
- Tags
- OMIM
- 601065
- Clinvar variants
- Variants in AARS
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- DDG2P
- Adult onset leukodystrophy
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Paediatric motor neuronopathies
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Severe microcephaly
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
History Filter Activity
18 Dec 2020, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: AARS were changed from to Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287; Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
6 Sep 2019, Gel status: 1
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: AARS.
10 Jul 2016, Gel status: 1
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
6 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)AARS was added to Hereditary ataxiapanel. Sources: UKGTN