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Intellectual disability syndromic and non-syndromic

Gene: TARS

Amber List (moderate evidence)

TARS (threonyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000113407
EnsemblGeneIds (GRCh37): ENSG00000113407
OMIM: 187790, Gene2Phenotype
TARS is in 3 panels

1 review

Chirag Patel (Genetic Health Queensland)

I don't know

Clinical features of trichothiodystrophy (TTD) include ichthyosis, intellectual disability, decreased fertility, short stature.

2 unrelated patients with non-photosensitive-TTD, in whom limited clinical information was available (one with DD): one compound heterozygous TARS variants, second homozygous for TARS variant. They showed that the variants had a profound effect on TARS protein stability and enzymatic function.
Sources: Literature
Created: 11 Dec 2019, 3:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichothiodystrophy 7, nonphotosensitive; OMIM #618546

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Trichothiodystrophy 7, nonphotosensitive
  • OMIM #618546
OMIM
187790
Clinvar variants
Variants in TARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

11 Dec 2019, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: TARS was added gene: TARS was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TARS were set to PMID: 31374204 Phenotypes for gene: TARS were set to Trichothiodystrophy 7, nonphotosensitive; OMIM #618546 Review for gene: TARS was set to AMBER