Genomics England
GMS Panels
Panels
Genes and Entities

PRKG2

protein kinase, cGMP-dependent, type II
OMIM: 601591
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PRKG2-related acromesomelic dysplasia and spondylometaphyseal dysplasia, OMIM:619636
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
Acromesomelic dysplasia 4, OMIM:619636, Spondylometaphyseal dysplasia, Pagnamenta type, OMIM:619638