MMP20

matrix metallopeptidase 20
OMIM: 604629, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green MMP20 in Amelogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.5
Signed off v.2.2 on 13 Feb 2020

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