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Mendeliome

Gene: MSX1

Green List (high evidence)

MSX1 (msh homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000163132
EnsemblGeneIds (GRCh37): ENSG00000163132
OMIM: 142983, Gene2Phenotype
MSX1 is in 5 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

ClinGen craniofacial malformations GCEP classified the gene-disease association as definitive on 08/02/2024 - https://search.clinicalgenome.org/CCID:005439
ClinGen lumped Orofacial cleft 5 (OMIM:608874) and Tooth agenesis, selective, 1, with or without orofacial cleft (OMIM:106600).
Created: 5 Mar 2025, 2:28 a.m. | Last Modified: 5 Mar 2025, 2:28 a.m.
Panel Version: 1.2345

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
tooth agenesis, selective, 1 MONDO:0007129

Publications

  • https://search.clinicalgenome.org/CCID:005439

Abhijit Kulkarni (Healius Pathology)

Green List (high evidence)

Monoallelic MSX1 variants reported in >10 patient with non-syndromic forms of cleft lip and/or cleft palate.

MSX1 also reported to cause Ectodermal dysplasia 3, Witkop type (MIM#189500) and Tooth agenesis, selective, 1, with or without orofacial cleft (MIM#106600), which are unlikely to be detected antenatally.

Zheng et al ( PMID: 33419968) Reported series of cases with MSX1 mutations in non syndromic oligodontia
Created: 17 May 2022, 12:08 a.m. | Last Modified: 17 May 2022, 12:08 a.m.
Panel Version: 0.14410

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Witkop syndrome (Ectodermal Dysplasia) (MIM: 189500),Cleft Lip+/- Cleft Palate (Rofacial Cleft- MIM :608874), Oligodontia

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Witkop syndrome (Ectodermal Dysplasia) (MIM: 189500),Cleft Lip+/- Cleft Palate (Rofacial Cleft- MIM :608874), Oligodontia
OMIM
142983
Clinvar variants
Variants in MSX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MSX1 were set to 33419968, 33708320, 32192766

20 May 2022, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: MSX1 were changed from Witkop syndrome (Ectodermal Dysplasia) (MIM: 189500),Cleft Lip+/- Cleft Palate (Rofacial Cleft- MIM :608874), Oligodontia to Witkop syndrome (Ectodermal Dysplasia) (MIM: 189500),Cleft Lip+/- Cleft Palate (Rofacial Cleft- MIM :608874), Oligodontia

20 May 2022, Gel status: 3

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: MSX1 were set to 33419968, 33708320, 32192766

20 May 2022, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: MSX1 were changed from to Witkop syndrome (Ectodermal Dysplasia) (MIM: 189500),Cleft Lip+/- Cleft Palate (Rofacial Cleft- MIM :608874), Oligodontia

20 May 2022, Gel status: 3

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: MSX1 were set to

20 May 2022, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: msx1 has been classified as Green List (High Evidence).

20 May 2022, Gel status: 3

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

Mode of inheritance for gene: MSX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MSX1 was added gene: MSX1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MSX1 was set to Unknown