Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: MSX2

Green List (high evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniosynostosis 2 (MIM#604757)
  • Parietal foramina 1 (MIM#168500)
  • Parietal foramina with cleidocranial dysplasia (MIM#168550)
OMIM
123101
Clinvar variants
Variants in MSX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: msx2 has been classified as Green List (High Evidence).

29 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MSX2 were changed from to Craniosynostosis 2 (MIM#604757); Parietal foramina 1 (MIM#168500); Parietal foramina with cleidocranial dysplasia (MIM#168550)

29 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MSX2 were set to

29 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MSX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MSX2 was added gene: MSX2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MSX2 was set to Unknown