Craniosynostosis
Gene: MSX2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 unrelated families reported. Also some reports of duplications causing craniosynostosis, and functional data.
Created: 7 Oct 2020, 9:12 a.m. | Last Modified: 7 Oct 2020, 9:12 a.m.

Panel Version: 0.171

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Craniosynostosis 2, MIM# 604757

Publications

Created: 7 Oct 2020, 9:12 a.m.
Last Modified: 7 Oct 2020, 9:12 a.m.
Panel version: 0.171

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Craniosynostosis 2, MIM# 604757

OMIM

123101

Clinvar variants

Variants in MSX2

Penetrance

None

Publications

Panels with this gene