YARS

tyrosyl-tRNA synthetase
OMIM: 603623, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green YARS in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323
  • MONDO:0012012
  • Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418

Green YARS in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.194

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418

Green YARS in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418

Green YARS in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.48

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323
    • MONDO:0012012