Metaphyseal dysplasias

Gene: MMP9

Green List (high evidence)

MMP9 (matrix metallopeptidase 9)
EnsemblGeneIds (GRCh38): ENSG00000100985
EnsemblGeneIds (GRCh37): ENSG00000100985
OMIM: 120361, Gene2Phenotype
MMP9 is in 5 panels

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 613073METAPHYSEAL ANADYSPLASIA 2
OMIM
120361
Clinvar variants
Variants in MMP9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 May 2020, Gel status: 3

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: MMP9 was added gene: MMP9 was added to Metaphyseal dysplasias. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: MMP9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MMP9 were set to 19615667 Phenotypes for gene: MMP9 were set to 613073METAPHYSEAL ANADYSPLASIA 2