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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

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

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

Eleanor Williams (Genomics England Curator)

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.

Richard Scott (Genomics England Curator)

Comment on list classification: Current diagnostic
Created: 1 Feb 2016, 10:13 a.m.

Andrew Wilkie (University of Oxford)

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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Craniosynostosis, type 2, 604757
  • Parietal foramina 1, 168500
  • Parietal foramina with cleidocranial dysplasia, 168550
  • Craniosynostosis
  • MSX2-related craniosynostosis
OMIM
123101
Clinvar variants
Variants in MSX2
Penetrance
Complete
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

5 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to MSX2. Rating Changed from Green List (high evidence) to Green List (high evidence)

1 Feb 2016, Gel status: 4

Set Phenotypes

Richard Scott (Genomics England Curator)

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

1 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for MSX2 were set to 8106171; 23949913; 23918290

1 Feb 2016, Gel status: 4

Set mode of pathogenicity

Richard Scott (Genomics England Curator)

Mode of pathogenicity for MSX2 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

MSX2 was added to Craniosynostosis syndromespanel. Sources: Expert list

27 Jul 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene MSX2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

MSX2 was added to Craniosynostosis syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services

27 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

MSX2 was added to Craniosynostosis syndromespanel. Sources: Radboud University Medical Center, Nijmegen