Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: MSX2

Green List (high evidence)

Green- for recurrent mutation only (P148L/P148H). AD. Blueprint genetics note that the gene is at least partially duplicated elsewhere in the genome. Fs/LOF associated with enlarged parietal foramina. Note added by GOSH: Pseudogene MSX2P1 ; Review on behalf of Tracy Lester/Andrew Wilkie/GOSH

Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Craniosynostosis, type 2, 604757; Parietal foramina 1, 168500; Parietal foramina with cleidocranial dysplasia, 168550; Craniosynostosis; MSX2-related craniosynostosis

Publications

• 8106171
• 23949913
• 23918290

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

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

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: MSX2; Suggested initial gene rating: green

Created: 5 Mar 2019, 11:21 a.m.

Comment on list classification: Current diagnostic

Created: 1 Feb 2016, 10:13 a.m.

Green List (high evidence)

Only missense mutations at p.Pro148, and whole gene duplications, associated with craniosynostosis. Heterozygous loss-of-function causes parietal foramina

Created: 14 Sep 2015, 11:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MSX2-related craniosynostosis

Publications

• 8106171
• 23949913
• 23918290

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments