Genomics England
GMS Panels
Panels
Genes and Entities

BMPER

BMP binding endothelial regulator
OMIM: 608699
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DIAPHANOSPONDYLODYSOSTOSIS 608022
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DIAPHANOSPONDYLODYSOSTOSIS
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diaphanospondylodysostosis 608022