TONSL

tonsoku like, DNA repair protein
OMIM: 604546, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green TONSL in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.44
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510
    • spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0010068
    Green TONSL in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.186
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510
    Green TONSL in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TONSL-related sponastrime dysplasia
    • MONDO:0010068
    • OMIM:271510.0