Skeletal dysplasia

Gene: MMP13

Green List (high evidence)

Metaphyseal dysplasia gp of SD - homozygotes have also been reported, so have added recessive to mode of inheritance.; Review on behalf of Tracy Lester

Created: 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

• 24648384

I don't know

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 MMP13

Created: 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 OMIM

Created: 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: green

Created: 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.

Green List (high evidence)

Tier 1

Created: 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