GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: MSX2

MSX2 (msh homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000120149
EnsemblGeneIds (GRCh37): ENSG00000120149
OMIM: 123101, Gene2Phenotype
MSX2 is in 6 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Cleidocranial dysplasia and related disorders gp of SD, Craniosynostosis syndrome gp of SD. Do you report variants in this gene as part of your current diagnostic practice? YES - for PF and CSS; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Craniosynostosis, type 2 604757; Parietal foramina 1 168500; Parietal foramina with cleidocranial dysplasia 168550

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

Craniosynostosis, type 2 604757
Parietal foramina with cleidocranial dysplasia 168550
Parietal foramina 1 168500

OMIM

123101

Clinvar variants

Variants in MSX2

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: MSX2 was added gene: MSX2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MSX2 were set to Craniosynostosis, type 2 604757; Parietal foramina with cleidocranial dysplasia 168550; Parietal foramina 1 168500

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: MSX2