MMP9

matrix metallopeptidase 9
OMIM: 120361, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red MMP9 in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.1

review Not set
Sources
  • Literature

Amber MMP9 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.24
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Emory Genetics Laboratory
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Metaphyseal anadysplasia 2 613073

    No list MMP9 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.7
    Signed off v.2.2 on 13 Feb 2020

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature