AMBN

ameloblastin
OMIM: 601259, Gene2Phenotype

1 panel

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

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Amelogenesis imperfecta, type IF, 616270
Tags
  • cnv