TONSL

tonsoku like, DNA repair protein
OMIM: 604546, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green TONSL in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510
  • spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0010068

Green TONSL in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510
  • spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0010068