MMP13

matrix metallopeptidase 13
OMIM: 600108, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green MMP13 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Metaphyseal anadysplasia 1 602111
    • Spondyloepimetaphyseal dysplasia, Missouri type 602111
    • Metaphyseal dysplasia, Spahr type - 250400
    Green MMP13 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • METAPHYSEAL ANADYSPLASIA TYPE 1
    • SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE
    No list MMP13 in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.4
    Latest signed off version: v5.0 (30 Apr 2025)

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature
    Tags
    • curated_removed
    Green MMP13 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • METAPHYSEAL ANADYSPLASIA TYPE 1 602111
    • SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE 602111
    Red MMP13 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Spondyloepimetaphyseal dysplasia, Missouri type, 602111
    • Metaphyseal anadysplasia 1, 602111