1. Genes and Genomic Entities
  2. MMP13

MMP13

matrix metallopeptidase 13
OMIM: 600108, Gene2Phenotype

6 panels

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

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

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


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

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


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    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
    Green MMP13 in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Metaphyseal dysplasia, Spahr type, 250400
    • Spondyloepimetaphyseal dysplasia, Missouri type, 602111
    • Metaphyseal anadysplasia 1, 602111