TUFT1

tuftelin 1
OMIM: 600087, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber TUFT1 in Ectodermal dysplasia


Version 3.29
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ectodermal dysplasia syndrome, MONDO:0019287
Red TUFT1 in Amelogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • amelogenesis imperfecta