1. Genes and Genomic Entities
  2. PTPRQ

PTPRQ

protein tyrosine phosphatase, receptor type Q
OMIM: 603317, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red PTPRQ in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813
    Red PTPRQ in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.4
    Latest signed off version: v5.0 (30 Apr 2025)

    		review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813
    Green PTPRQ in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Deafness, autosomal dominant 73, OMIM:617663
    • Deafness, autosomal recessive 84A, OMIM:613391