Hereditary Neuropathy_CMT - isolated
Gene: AARSEnsemblGeneIds (GRCh38): ENSG00000090861
EnsemblGeneIds (GRCh37): ENSG00000090861
OMIM: 601065, Gene2Phenotype
AARS is in 11 panels
2 reviews
Eleanor Williams (Genomics England)
PMID: 33909043 - Botta et al 2021 - using WES or WGS analysis of 34 unsolved cases with multi-system phenotypes, but with hair alterations that are typical of trichothiodystrophy but no reported photosensitivity, they identified 2 unrelated cases carrying 4 potentially pathogenic variants in the AARS1 gene (previously known as AARSB. Both patients had very rare compound heterozygous missense variants. In one family there was an older affected sibling but segregation data was not available for either family. Functional studies suggest that the variants affects gene product stability.Created: 7 Oct 2021, 11:18 a.m. | Last Modified: 7 Oct 2021, 12:09 p.m.
Panel Version: 0.9347
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
trichothiodystrophy, MONDO:0018053
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Over 10 unrelated families reported.Created: 29 Aug 2020, 4:47 a.m. | Last Modified: 29 Aug 2020, 4:47 a.m.
Panel Version: 0.48
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Charcot Marie Tooth disease, axonal, type 2N, 613287
- HMSN, dHMN/dSMA
- OMIM
- 601065
- Clinvar variants
- Variants in AARS
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aars has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: AARS were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: AARS was added gene: AARS was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AARS were set to Charcot Marie Tooth disease, axonal, type 2N, 613287; HMSN, dHMN/dSMA