FAM83H

family with sequence similarity 83 member H
OMIM: 611927, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green FAM83H 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 Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Amelogenesis imperfecta, type III, 130900
  • Amelogenesis Imperfecta, Type III, 130900
  • Hypocalcified AI