Research panel - Severe Paediatric Disorders
Gene: MMP13

MMP13 (matrix metallopeptidase 13)
EnsemblGeneIds (GRCh38): ENSG00000137745
EnsemblGeneIds (GRCh37): ENSG00000137745
OMIM: 600108, Gene2Phenotype
MMP13 is in 5 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MMP13; Recommended initial gene rating: Green List (high evidence); Phenotypes: Metaphyseal anadysplasia 1, 602111 (3) | Metaphyseal dysplasia, Spahr type, 250400 (3) | Spondyloepimetaphyseal dysplasia, Missouri type, 602111 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:22 p.m.
Last Modified: 20 Feb 2020, 5:22 p.m.
Panel version: 0.12

Details

Mode of Inheritance

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

OMIM

600108

Clinvar variants

Variants in MMP13

Penetrance

None

Publications

30847515

Panels with this gene