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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. MMP13
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GMS Musculoskeletal specialist test group Skeletal dysplasia

Gene: MMP13

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

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, 11:52 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

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Metaphyseal anadysplasia 1 602111
  • Spondyloepimetaphyseal dysplasia, Missouri type 602111
  • Metaphyseal dysplasia, Spahr type - 250400
OMIM
600108
Clinvar variants
Variants in MMP13
Penetrance
None
Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: MMP13 was added gene: MMP13 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: MMP13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MMP13 were set to Metaphyseal anadysplasia 1 602111; Spondyloepimetaphyseal dysplasia, Missouri type 602111; Metaphyseal dysplasia, Spahr type - 250400