Skeletal dysplasia
Gene: MMP13
Metaphyseal dysplasia gp of SD - homozygotes have also been reported, so have added recessive to mode of inheritance.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Metaphyseal anadysplasia 1 602111; Spondyloepimetaphyseal dysplasia, Missouri type 602111; Metaphyseal dysplasia, Spahr type - 250400
Publications
PMID: 19615667 - Lausch et al 2009 - found that recessive MAD is caused by homozygous loss of function of either MMP9 or MMP13, whereas dominant MAD is associated with missense mutations in the prodomain of MMP13 that determine autoactivation of MMP13Created: 8 May 2019, 2:47 p.m.
Comment on mode of inheritance: Updated mode of inheritance to be in agreement with Tracy Lester's recommendation and OMIMCreated: 8 May 2019, 2:09 p.m.
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: MMP13; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:58 p.m.
Tier 1Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Metaphyseal anadysplasia 1 602111; Spondyloepimetaphyseal dysplasia, Missouri type 602111
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: MMP13 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Metaphyseal anadysplasia 1 602111; Spondyloepimetaphyseal dysplasia, Missouri type 602111; Metaphyseal dysplasia, Spahr type - 250400 for gene: MMP13 Publications for gene MMP13 were changed from to 24648384
Source NHS GMS was added to MMP13. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for MMP13 were set to Metaphyseal anadysplasia 1 602111; Spondyloepimetaphyseal dysplasia, Missouri type 602111
Mode of inheritance for MMP13 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for MMP13 were set to Metaphyseal anadysplasia 1 602111; Spondyloepimetaphyseal dysplasia, Missouri type 602111
Phenotypes for MMP13 were set to Metaphyseal anadysplasia 1 602111; Spondyloepimetaphyseal dysplasia, Missouri type 602111
This gene has been classified as Green List (High Evidence).
MMP13 was added to Unexplained skeletal dysplasiapanel. Sources:
MMP13 was created by sleigh