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Severe Paediatric Disorders

Gene: MMP13

Green List (high evidence)

MMP13 (matrix metallopeptidase 13)
EnsemblGeneIds (GRCh38): ENSG00000137745
EnsemblGeneIds (GRCh37): ENSG00000137745
OMIM: 600108, Gene2Phenotype
MMP13 is in 6 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

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
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene MMP13 were updated from to 30847515

20 Feb 20