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  3. TARS
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Hair disorders

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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: 14 Dec 2019, 2:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichothiodystrophy 7, nonphotosensitive; OMIM #618546

Publications

Created: 14 Dec 2019, 2:14 a.m.

Panel version: Imported from Mendeliome panel version 0.326

Details

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

History Filter Activity

29 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

29 Jul 2020, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: TARS were set to 31332722

29 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

28 Jul 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TARS was added gene: TARS was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TARS were set to 31332722 Phenotypes for gene: TARS were set to Trichothiodystrophy 7, nonphotosensitive, 618546