Genomics England
GMS Panels
Panels
Genes and Entities

DDR2

discoidin domain receptor tyrosine kinase 2
OMIM: 191311
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE 271665
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported, Spondylometaepiphyseal dysplasia, short limb-hand type 271665