Ataxia and cerebellar anomalies - narrow panel
Gene: AARS

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

1 review

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for AARS is AARS1
Created: 6 Sep 2019, 11:54 a.m. | Last Modified: 6 Sep 2019, 11:54 a.m.

Panel Version: 1.6

Created: 6 Sep 2019, 11:54 a.m.
Last Modified: 6 Sep 2019, 11:54 a.m.
Panel version: 1.6

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red

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: 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.

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: AARS was added gene: AARS was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Ataxia and cerebellar anomalies - narrow panel Gene: AARS