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Skeletal dysplasia

Gene: MMP2

Green List (high evidence)

MMP2 (matrix metallopeptidase 2)
EnsemblGeneIds (GRCh38): ENSG00000087245
EnsemblGeneIds (GRCh37): ENSG00000087245
OMIM: 120360, Gene2Phenotype
MMP2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families and a mouse model.
Created: 19 May 2022, 2:53 a.m. | Last Modified: 19 May 2022, 2:53 a.m.
Panel Version: 0.14535

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multicentric osteolysis, nodulosis, and arthropathy, MIM# 259600

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Multicentric osteolysis, nodulosis, and arthropathy 259600
OMIM
120360
Clinvar variants
Variants in MMP2
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MMP2 was added gene: MMP2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green Mode of inheritance for gene: MMP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMP2 were set to Multicentric osteolysis, nodulosis, and arthropathy 259600