Genomics England
GMS Panels
Panels
Genes and Entities

MBTPS1

membrane bound transcription factor peptidase, site 1
OMIM: 603355
PanelMode of inheritanceDetails
1 panel
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.31
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Skeletal dysplasia, ?Spondyloepiphyseal dysplasia, Kondo-Fu type OMIM:618392, spondyloepiphyseal dysplasia, kondo-fu type MONDO:0032721