TARS1

threonyl-tRNA synthetase 1
OMIM: 187790, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber TARS1 in Mendeliome


Version 2.10

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

Amber TARS1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.1

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

Amber TARS1 in Hair disorders


Level 2: Dermatological disorders
Version 1.0

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