AMELX

amelogenin, X-linked
OMIM: 300391, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green AMELX in Amelogenesis imperfecta


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

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Amelogenesis imperfecta, type 1E, 301200
  • iX-linked hypoplastic amelogenesis imperfecta
  • hypomaturation AI with variable hypoplastic foci
  • smooth hypoplastic AI
Tags
  • deletions