AMTN

amelotin
OMIM: 610912, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber AMTN in Amelogenesis imperfecta


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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Amelogenesis imperfecta
  • dominant hypomineralised AI
  • Amelogenesis imperfecta, hypomaturation type
  • ?Amelogenesis imperfecta, type IIIB, 617607
Tags
  • deletions
  • watchlist