Genomics England
GMS Panels
Panels
Genes and Entities

MATN3

matrilin 3
OMIM: 602109
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 607078
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
MED, multiple epiphyseal dysplasia, Multiple Epiphyseal Dysplasia, Dominant, Disproportionate Short Stature, Epiphyseal dysplasia, multiple, 5, 607078, {Osteoarthritis susceptibility 2}, 140600, Spondyloepimetaphyseal dysplasia, 608728, Spondyloepimetaphyseal dysplasia, 608728