Craniosynostosis

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

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

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

History Filter Activity

7 Oct 2020, 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).

7 Oct 2020, 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

7 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MSX2 were set to

7 Oct 2020, 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 Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MSX2 was set to Unknown