Genomics England
GMS Panels
Panels
Genes and Entities

PLOD2

procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
OMIM: 601865
PanelMode of inheritanceDetails
5 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 7.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bruck syndrome 2 609220
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BRUCK SYNDROME TYPE 2 609220
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BRUCK SYNDROME TYPE 2
Green
in Osteogenesis imperfecta
R-numbers: R102
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias, Bruck syndrome, osteogenesis imperfecta
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bruck syndrome 2 609220