Paediatric motor neuronopathies

Gene: AARS

Red List (low evidence)

AARS (alanyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000090861
EnsemblGeneIds (GRCh37): ENSG00000090861
OMIM: 601065, Gene2Phenotype
AARS is in 16 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, 11:51 a.m. | Last Modified: 6 Sep 2019, 11:51 a.m.
Panel Version: 1.23

Pinki Munot (Consultant )

Red List (low evidence)

this gene has been associated with axonal CMT.

Might be good to have a rule to apply CMt panels to paediatric motor neuronopathies due to the clinical overlap with distal SMA
Created: 2 Mar 2017, 7:27 p.m.

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

mutation in this gene cause axonal cmt
Created: 31 Jan 2017, 3:45 p.m.

Alice Gardham (Genomics England)

Comment on list classification: CMT penotype
Created: 26 Jan 2017, 11:12 a.m.

History Filter Activity

6 Sep 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

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

7 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Gene panel promoted to v1 on 7 March 2017 following external review and internal curation

7 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

2 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

8 May 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

AARS was added to Paediatric motor neuronopathiespanel. Sources: Expert