Genomics England
GMS Panels
Panels
Genes and Entities

P4HB

prolyl 4-hydroxylase subunit beta
OMIM: 176790
PanelMode of inheritanceDetails
5 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
COLE-CARPENTER SYNDROME 112240
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cole-Carpenter syndrome 1, OMIM:112240, Cole-Carpenter syndrome 1, MONDO:0007204
Green
in Osteogenesis imperfecta
R-numbers: R102
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cole-Carpenter syndrome 1, OMIM:112240, Cole-Carpenter syndrome 1, MONDO:000720
Green
in Rare syndromic craniosynostosis or isolated multisuture synostosis
R-numbers: R100
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cole-Carpenter syndrome 1 112240
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
Cole-Carpenter syndrome 1 112240, Cole-Carpenter syndrome 1 112240