AMBN

ameloblastin
OMIM: 601259, Gene2Phenotype

1 panel

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


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

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Amelogenesis imperfecta, type IF, OMIM:616270
Tags
  • cnv