Genes in panel
STRs in panel
Prev Next

Skeletal dysplasia

Gene: MMP14

Red List (low evidence)

MMP14 (matrix metallopeptidase 14)
EnsemblGeneIds (GRCh38): ENSG00000157227
EnsemblGeneIds (GRCh37): ENSG00000157227
OMIM: 600754, Gene2Phenotype
MMP14 is in 1 panel

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Winchester syndrome 277950
OMIM
600754
Clinvar variants
Variants in MMP14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MMP14 was added gene: MMP14 was added to Skeletal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: MMP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMP14 were set to 22922033 Phenotypes for gene: MMP14 were set to Winchester syndrome 277950