YARS

tyrosyl-tRNA synthetase
OMIM: 603623, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber YARS in Cholestasis


Version 1.76
Signed off v.1.21 on 20 Aug 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate C 608323
  • Intellectual disability
  • deafness
  • nystagmus
  • liver dysfunction
Tags
  • watchlist
  • for-review
  • new-gene-name

Green YARS in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.381

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 Hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.146
Signed off v.2.5 on 13 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate C 608323
  • Intellectual disability
  • deafness
  • nystagmus
  • liver dysfunction
Tags
  • watchlist
  • new-gene-name

Amber YARS in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.714
Signed off v.3.2 on 13 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Charcot-Marie-Tooth disease, dominant intermediate C 608323
    • Intellectual disability
    • deafness
    • nystagmus
    • liver dysfunction
    Tags
    • watchlist
    • new-gene-name

    Green YARS in Hereditary neuropathy NOT PMP22 copy number


    Version 1.19
    Signed off v.1.2 on 27 Feb 2020

    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