Skeletal dysplasia
Gene: MSX2

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

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 3 unrelated families reported. Also some reports of duplications causing craniosynostosis, and functional data.

Monoallelic MSX2 variants reported in unrelated families with enlarged parietal foramina (PFM) and parietal foramina with cleidocranial dysplasia (PFMCCD). Congenital skull malformation.
Created: 29 Nov 2021, 5:56 a.m. | Last Modified: 29 Nov 2021, 5:56 a.m.

Panel Version: 0.9929

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Craniosynostosis 2 (MIM#604757); Parietal foramina 1 (MIM#168500); Parietal foramina with cleidocranial dysplasia (MIM#168550)

Publications

Created: 29 Nov 2021, 5:56 a.m.
Last Modified: 29 Nov 2021, 5:56 a.m.
Panel version: Imported from Mendeliome panel version 0.9929

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Illumina TruGenome Clinical Sequencing Services
UKGTN
Expert Review Green
Radboud University Medical Center, Nijmegen
NHS GMS
Expert list

Phenotypes

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

OMIM

123101

Clinvar variants

Variants in MSX2

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MSX2 was added gene: MSX2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MSX2 were set to Parietal foramina 1 168500; Parietal foramina with cleidocranial dysplasia 168550; Craniosynostosis, type 2 604757

Skeletal dysplasia Gene: MSX2