Metaphyseal dysplasias
Gene: MMP13EnsemblGeneIds (GRCh38): ENSG00000137745
EnsemblGeneIds (GRCh37): ENSG00000137745
OMIM: 600108, Gene2Phenotype
MMP13 is in 5 panels
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Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Metaphyseal anadysplasia 1 602111
- Spondyloepimetaphyseal dysplasia, Missouri type 602111
- Metaphyseal dysplasia, Spahr type - 250400
- OMIM
- 600108
- Clinvar variants
- Variants in MMP13
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Tiong Tan (Victorian Clinical Genetics Services)gene: MMP13 was added gene: MMP13 was added to Metaphyseal dysplasias. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: MMP13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MMP13 were set to 24648384 Phenotypes for gene: MMP13 were set to Metaphyseal anadysplasia 1 602111; Spondyloepimetaphyseal dysplasia, Missouri type 602111; Metaphyseal dysplasia, Spahr type - 250400