Skeletal dysplasia
Gene: MMP2
Osteolysis gp of SD - >3 cases. Also mutated in Cardiomyopathy, dilated, 1A 115200;Charcot-Marie-Tooth disease, type 2B1 605588;Lipodystrophy, familial partial, 2 151660;Malouf syndrome 212112;Muscular dystrophy, congenital 613205;Muscular dystrophy, limb; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multicentric osteolysis, nodulosis, and arthropathy 259600
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: MMP2; 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 2Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multicentric osteolysis, nodulosis, and arthropathy 259600
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Multicentric osteolysis, nodulosis, and arthropathy 259600 for gene: MMP2
Source NHS GMS was added to MMP2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Mode of inheritance for MMP2 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for MMP2 were set to Multicentric osteolysis, nodulosis, and arthropathy 259600
This gene has been classified as Green List (High Evidence).
MMP2 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
MMP2 was created by sleigh
MMP2 was added to Unexplained skeletal dysplasiapanel. Sources: