TARS

threonyl-tRNA synthetase
OMIM: 187790, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber TARS in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Trichothiodystrophy 7, nonphotosensitive
  • OMIM #618546

Amber TARS in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.63

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Trichothiodystrophy 7, nonphotosensitive
  • OMIM #618546

Amber TARS in Hair disorders


Level 2: Dermatological disorders
Version 0.71

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Trichothiodystrophy 7, nonphotosensitive, 618546