TARS

threonyl-tRNA synthetase
OMIM: 187790, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber TARS in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert list
Phenotypes
  • Trichothiodystrophy 7, nonphotosensitive, OMIM:618546
Tags
  • watchlist
  • new-gene-name
Green TARS in DDG2P


Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Non-photosensitive trichothiodystrophy
    Tags
    • new-gene-name