Hereditary ataxia with onset in adulthood
Gene: AARS
On Oxford panel. Neuropathy panel. Cerebral atrophy is included in the HPO terms.Created: 27 Apr 2019, 7:39 p.m.
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: 1.196
Upgraded rating from Red to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test groupCreated: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
No ataxia phenotype in humans yet reported, knockout mouse displays ataxiaCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
CMT 2N 613287; EIEE29, 616339
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: AARS were changed from CMT 2N 613287; EIEE29, 616339 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.
Source Expert Review Amber was added to AARS. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source London North GMS was added to AARS.
Added phenotypes CMT 2N 613287; EIEE29, 616339 for gene: AARS
Source NHS GMS was added to AARS.
Source Wessex and West Midlands GLH was added to AARS.
Louise Daugherty: Comment on phenotypes: Implica
gene: AARS was added gene: AARS was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown