MMP20

matrix metallopeptidase 20
OMIM: 604629, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green MMP20 in Amelogenesis imperfecta


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Amelogenesis imperfecta, type IIA2, 612529
  • Amelogenesis Imperfecta, Hypomaturation Type, IIA2, 612529
  • Amelogenesis Imperfecta, Recessive