Hereditary neuropathy or pain disorder
Gene: AARS
In Bristol multiple findings of the commonest variant, several other candidate C4s. PMID: 26392352 our Bristol paper including 7 patients with AARS variants, PMID:20045102 (first report on HGMD of commonest variant Arg329His)Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot-Marie-Tooth, Type 2 ; Charcot Marie Tooth disease, axonal, type 2N, 613287
Publications
Variants in this GENE are reported as part of current diagnostic practice
Added new-gene-name tag, new approved HGNC gene symbol for AARS is AARS1Created: 18 Dec 2019, 3:24 p.m. | Last Modified: 18 Dec 2019, 3:24 p.m.
Panel Version: 1.0
Added new-gene-name tag, new approved HGNC gene symbol for AARS is AARS1Created: 6 Sep 2019, 11:50 a.m. | Last Modified: 6 Sep 2019, 11:50 a.m.
Panel Version: 1.333
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Is on the Charcot-Marie- Tooth disease type 2 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 1:02 p.m.
no loss of function variant has been reported to dateCreated: 9 Dec 2015, 4:46 p.m.
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: AARS were changed from Charcot Marie Tooth disease, axonal, type 2N, 613287; Charcot-Marie-Tooth, Type 2 to Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287; Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
Tag new-gene-name tag was added to gene: AARS.
gene: AARS was added gene: AARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AARS were set to 20045102; 26032230, 26392352 Phenotypes for gene: AARS were set to Charcot Marie Tooth disease, axonal, type 2N, 613287; Charcot-Marie-Tooth, Type 2