Early onset or syndromic epilepsy
Gene: AARSAdded 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: 1.263
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Epileptic encephalopathy, 616339 is reported as autosomal recessive. AD EIEE 29. Simons et al 2015: 2 cases (1 case = 2 sibs) with recessive encephalopathy, comp het missense variants in the sibs: K81T & R751G - functional studies done. The other case hom for the R751G variant. On HGMD Pro - Karakaya et al, 2018 - suspected diagnosis is HMN and epilepsy - novel hom variant F958S in AARS - likely pathogenic . Nakayama et al, 2017 - 2 sibs with EIEE - compound het for a dupC and a missense change (novel) functional studies support pathogenicity.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, 613287; Early Infantile Epileptic encephalopathy, 601065
Publications
Comment on phenotypes: Autosomal dominant variants associated with Charcot-Marie-Tooth disease, axonal, type 2N 613287Created: 4 Jun 2018, 12:14 p.m.
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported in 3 unrelated cases, together with supportive functional studies.Created: 4 Jun 2018, 12:13 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 29 616339
Publications
Phenotypes for gene: AARS were changed from Epileptic encephalopathy, early infantile, 29 616339 to Developmental and epileptic encephalopathy 29, OMIM:616339; Developmental and epileptic encephalopathy, 29, MONDO:0014593
Tag new-gene-name tag was added to gene: AARS.
Source Wessex and West Midlands GLH was added to AARS.
Source NHS GMS was added to AARS.
Sarah Leigh: Associated with relevant pheno
Victorian Clinical Genetics Services was added to AARS. Panel: Genetic Epilepsy Syndromes
Phenotypes for gene: AARS were set to Epileptic encephalopathy, early infantile, 29 616339
Gene: aars has been classified as Green List (High Evidence).
AARS was added to Genetic Epilepsy Syndromes panel. Sources: Literature
AARS was created by Sarah Leigh