Research panel - Severe Paediatric Disorders
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)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: AARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3) | Epileptic encephalopathy, early infantile, 29, 616339 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 p.m.

Panel Version: 0.12

Added new-gene-name tag, new approved HGNC gene symbol for AARS is AARS1 (current gene symbol submitted by Next Generation Children Project)
Created: 14 Feb 2020, 8:02 p.m. | Last Modified: 14 Feb 2020, 8:02 p.m.

Panel Version: 0.6

Created: 14 Feb 2020, 8:02 p.m.
Last Modified: 14 Feb 2020, 8:02 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

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

30847515

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 Charcot-Marie-Tooth disease, axonal, type 2N, 613287; Epileptic encephalopathy, early infantile, 29, 616339 to Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287; Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212; Developmental and epileptic encephalopathy 29, OMIM:616339; Developmental and epileptic encephalopathy, 29, MONDO:0014593

21 Feb 2020, Gel status: 3