Genomics England
GMS Panels
Panels
Genes and Entities

HPGD

15-hydroxyprostaglandin dehydrogenase
OMIM: 601688
PanelMode of inheritanceDetails
3 panels
Green
in Autosomal recessive primary hypertrophic osteoarthropathy
R-numbers: R167
Signed-off version 1.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CRANIOOSTEOARTHROPATHY 259100
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.16
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cranioosteoarthropathy 259100, Digital clubbing, isolated congenital 119900, Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100