YARS

tyrosyl-tRNA synthetase
OMIM: 603623, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green YARS in Cholestasis


Level 2: Gastrohepatology
Version 4.19
Latest signed off version: v4.17 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, OMIM:619418
  • neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2, MONDO:0030375
Tags
  • new-gene-name
Green YARS in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.513

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • South West GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Charcot Marie Tooth disease, dominant intermediate C, 608323
  • Charcot Marie Tooth disease, dominant intermediate C, 608323
Tags
  • new-gene-name
Amber YARS in Monogenic hearing loss


Level 2: Audiology
Version 6.46
Latest signed off version: v6.34 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, OMIM:619418
    • neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2, MONDO:0030375
    • hearing loss disorder, MONDO:0005365
    Tags
    • new-gene-name
    • Q4_26_promote_green
    Amber YARS in Intellectual disability


    Level 2: Developmental disorders
    Version 11.44
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, OMIM:619418
    • neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2, MONDO:0030375
    Tags
    • new-gene-name
    • Q4_26_promote_green
    Green YARS in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 8.38
    Latest signed off version: v8.30 (12 Aug 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • Illumina TruGenome Clinical Sequencing Services
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Charcot Marie Tooth disease, dominant intermediate C, 608323
    Tags
    • new-gene-name