AMELX

amelogenin, X-linked
OMIM: 300391, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green AMELX in Amelogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.14
Latest signed off version: v2.2 (13 Feb 2020)

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

Green AMELX in Severe Paediatric Disorders


Version 1.84

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Amelogenesis imperfecta, type 1E, 301200