Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

Gene: AARS

Amber List (moderate evidence)

AARS (alanyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000090861
EnsemblGeneIds (GRCh37): ENSG00000090861
OMIM: 601065, Gene2Phenotype
AARS is in 17 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Gene was reassessed in view of the recent Green review by Alan Lehmann (5 Nov 2021). An additional case is necessary to allow corroboration of this gene-disease association (added 'watchlist' tag). At present, CARS1 is the only aminoacyl tRNA synthetase gene for which sufficient evidence has been reported to warrant a Green rating on this panel.
Created: 18 Nov 2021, 3:36 p.m. | Last Modified: 18 Nov 2021, 3:37 p.m.
Panel Version: 2.25

Alan Lehmann (University of Sussex/GSTT)

Green List (high evidence)

TARS, AARS, MARS and CARS are all genes for closely related amino-acyl-tRNA synthetases, with very similar functions, the only difference being the amino acid being activated. It therefore makes no biological sense to give them different review status. It would make more sense to regard them as one group, for which now at least eight trichothiodystrophy families have been identified (2 TARS, 2 AARS, 1 MARS, 3 CARS).
Created: 5 Nov 2021, 4:09 p.m. | Last Modified: 5 Nov 2021, 4:09 p.m.
Panel Version: 2.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichothiodystrophy

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Promoting to amber as 2 cases with plausible disease causing variants in the AARS gene reported.
Created: 7 Oct 2021, 11:11 a.m. | Last Modified: 7 Oct 2021, 11:11 a.m.
Panel Version: 2.17
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.
Sources: Literature
Created: 7 Oct 2021, 11:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
trichothiodystrophy, MONDO:0018053

Publications

History Filter Activity

18 Nov 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: AARS.

7 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

7 Oct 2021, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: AARS was added gene: AARS was added to Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome. Sources: Literature new-gene-name tags were added to gene: AARS. 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