TONSL

tonsoku like, DNA repair protein
OMIM: 604546, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green TONSL in Cataract


Level 2: Ophthalmological disorders
Version 0.631

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloepimetaphyseal dysplasia, sponastrime type, MIM# 271510

Green TONSL in Mendeliome


Version 1.4563

1 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 0.417

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