PAPSS2

3'-phosphoadenosine 5'-phosphosulfate synthase 2
OMIM: 603005
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE 612847
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847