Skeletal dysplasia
Gene: MSX2
Cleidocranial dysplasia and related disorders gp of SD, Craniosynostosis syndrome gp of SD. Do you report variants in this gene as part of your current diagnostic practice? YES - for PF and CSS; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Craniosynostosis, type 2 604757; Parietal foramina 1 168500; Parietal foramina with cleidocranial dysplasia 168550
Variants in this GENE are reported as part of current diagnostic practice
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; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 29 Jul 2016, 7:58 a.m.
Tier 2Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Craniosynostosis, type 2 604757; Parietal foramina 1 168500; Parietal foramina with cleidocranial dysplasia 168550
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Craniosynostosis, type 2 604757; Parietal foramina with cleidocranial dysplasia 168550; Parietal foramina 1 168500 for gene: MSX2
Source NHS GMS was added to MSX2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for MSX2 were set to Craniosynostosis, type 2 604757; Parietal foramina 1 168500; Parietal foramina with cleidocranial dysplasia 168550
Mode of inheritance for MSX2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
MSX2 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
MSX2 was added to Unexplained skeletal dysplasiapanel. Sources:
MSX2 was created by sleigh