YARS1

tyrosyl-tRNA synthetase 1
OMIM: 603623, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red YARS1 in Hyperinsulinism


Level 2: Endocrine disorders
Version 2.0

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

Green YARS1 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

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

Green YARS1 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323
  • MONDO:0012012