Genomics England
GMS Panels
Panels
Genes and Entities

MSX2

msh homeobox 2
OMIM: 123101
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM 168550, CRANIOSYNOSTOSIS, TYPE 2 604757
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM, CRANIOSYNOSTOSIS, TYPE 2
Green
in Rare syndromic craniosynostosis or isolated multisuture synostosis
R-numbers: R100
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Craniosynostosis, type 2, 604757, Parietal foramina 1, 168500, Parietal foramina with cleidocranial dysplasia, 168550, Craniosynostosis, MSX2-related craniosynostosis
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Craniosynostosis, type 2 604757, Parietal foramina with cleidocranial dysplasia 168550, Parietal foramina 1 168500