Genomics England
GMS Panels
Panels
Genes and Entities

DDRGK1

DDRGK domain containing 1
OMIM: 616177
PanelMode of inheritanceDetails
1 panel
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.31
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloepimetaphyseal dysplasia, Shohat type, OMIM:602557