TUFT1

tuftelin 1
OMIM: 600087, Gene2Phenotype

2 panels

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


Level 2: Dermatology
Version 4.23
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Woolly hair-skin fragility syndrome, OMIM:620415
Tags
  • Q4_25_promote_green
Red TUFT1 in Amelogenesis imperfecta


Level 2: Musculoskeletal
Version 4.30
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Woolly hair-skin fragility syndrome, OMIM:620415