Genomics England
GMS Panels
Panels
Genes and Entities

MMP13

matrix metallopeptidase 13
OMIM: 600108
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
METAPHYSEAL ANADYSPLASIA TYPE 1 602111, SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE 602111
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
METAPHYSEAL ANADYSPLASIA TYPE 1, SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Metaphyseal anadysplasia 1 602111, Spondyloepimetaphyseal dysplasia, Missouri type 602111, Metaphyseal dysplasia, Spahr type - 250400