1. Genes and Genomic Entities
  2. TONSL

TONSL

tonsoku like, DNA repair protein
OMIM: 604546, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green TONSL in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

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