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Genetic Epilepsy

Gene: AARS

Green List (high evidence)

AARS (alanyl-tRNA synthetase)
EnsemblGeneIds (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)

Green List (high evidence)

Bi-allelic variants associated with a severe phenotype comprising leukodystrophy, epilepsy, microcephaly and neurodevelopmental delay reported in three families.
Created: 29 Aug 2020, 4:36 a.m. | Last Modified: 29 Aug 2020, 4:36 a.m.
Panel Version: 0.822

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 29, MIM# 616339

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Epileptic encephalopathy, early infantile, 29, MIM# 616339
OMIM
601065
Clinvar variants
Variants in AARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aars has been classified as Green List (High Evidence).

29 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AARS were changed from to Epileptic encephalopathy, early infantile, 29, MIM# 616339

29 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AARS were set to

29 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AARS was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

29 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AARS was added gene: AARS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AARS was set to Unknown