Genomics England
GMS Panels
Panels
Genes and Entities

MESD

mesoderm development LRP chaperone
OMIM: 607783
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OSTEOGENESIS IMPERFECTA
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XX, OMIM:618644, Osteogenesis imperfecta, type 20, MONDO:0032846
Green
in Osteogenesis imperfecta
R-numbers: R102
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XX, OMIM:618644, Osteogenesis imperfecta, type 20, MONDO:0032846
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XX, OMIM:618644, Osteogenesis imperfecta, type 20, MONDO:0032846