P4HB

prolyl 4-hydroxylase subunit beta
OMIM: 176790
PanelMode of inheritanceDetails
4 panels
R-numbers: R100
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cole-Carpenter syndrome 1 112240
R-numbers: R21, R412
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cole-Carpenter syndrome 1, OMIM:112240, Cole-Carpenter syndrome 1, MONDO:0007204
R-numbers: R102
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cole-Carpenter Syndrome, Osteogenesis Imperfecta, Cole Carpenter syndrome
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cole-Carpenter syndrome 1 112240, Cole-Carpenter syndrome 1 112240