Chromosome Breakage Disorders

Gene: AARS

Amber List (moderate evidence)

AARS (alanyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000090861
EnsemblGeneIds (GRCh37): ENSG00000090861
OMIM: 601065, Gene2Phenotype
AARS is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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.

Amber rating as 2 families only, and uncertain of underlying mechanism (unlikely chromosome breakage, gene is associated with other disease entities) but included due to phenotypic overlap.
Sources: Literature
Created: 7 Oct 2021, 11:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichothiodystrophy, MONDO:0018053; Trichothiodystrophy 8, nonphotosensitive, MIM# 619691

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Trichothiodystrophy, MONDO:0018053
  • Trichothiodystrophy 8, nonphotosensitive 619691
OMIM
601065
Clinvar variants
Variants in AARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jan 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AARS were changed from Trichothiodystrophy, MONDO:0018053 to Trichothiodystrophy, MONDO:0018053; Trichothiodystrophy 8, nonphotosensitive 619691

7 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aars has been classified as Amber List (Moderate Evidence).

7 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aars has been classified as Amber List (Moderate Evidence).

7 Oct 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AARS was added gene: AARS was added to Chromosome Breakage Disorders. Sources: Literature Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS were set to 33909043 Phenotypes for gene: AARS were set to Trichothiodystrophy, MONDO:0018053 Review for gene: AARS was set to AMBER