MSX1 Chromosome 4
Msh homeobox 1
Upload your DNA to see your personal genotypes for variants in MSX1.
What This Gene Does
This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may also have roles in limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox 7, have been associated with nonsyndromic cleft lip with or without cleft palate 5, Witkop syndrome, Wolf-Hirschom syndrome, and autosomoal dominant hypodontia. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
NKL subclass homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
4p16.2
Ensembl
ENSG00000163132
Associated Conditions (8)
Tooth agenesis
selective
1
Orofacial cleft 5
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
MSX1-related disorder
Craniosynostosis syndrome
Oligodontia
Key Variants
RS150284621
Conflicting classifications of pathogenicity
Tooth agenesis, selective, 1
Health Risk
RS1737950162
Conflicting classifications of pathogenicity
Hypoplastic enamel-onycholysis-hypohidrosis syndrome, Tooth agenesis, selective
Health Risk
RS184700656
Conflicting classifications of pathogenicity
Craniosynostosis syndrome, Hypoplastic enamel-onycholysis-hypohidrosis syndrome, Craniosynostosis syndrome
Health Risk
RS1464389153
Likely pathogenic
MSX1-related disorder, MSX1-related disorder
Health Risk
RS2474113971
Likely pathogenic
MSX1-related disorder, MSX1-related disorder
Health Risk
RS104893850
Pathogenic
Tooth agenesis, selective, 1
Health Risk
RS104893852
Pathogenic
Tooth agenesis, selective, 1
Health Risk
RS104893853
Pathogenic
Hypoplastic enamel-onycholysis-hypohidrosis syndrome, MSX1-related disorder, Hypoplastic enamel-onycholysis-hypohidrosis syndrome
Health Risk
RS121913130
Pathogenic
Tooth agenesis, selective, 1
Health Risk
RS1553877821
Pathogenic
Tooth agenesis, selective, 1
Health Risk
RS1553878162
Pathogenic
Hypoplastic enamel-onycholysis-hypohidrosis syndrome, Hypoplastic enamel-onycholysis-hypohidrosis syndrome
Health Risk
RS1737950187
Pathogenic
Hypoplastic enamel-onycholysis-hypohidrosis syndrome, Hypoplastic enamel-onycholysis-hypohidrosis syndrome
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150284621 | Health Risk | Conflicting classifications of pathogenicity | Tooth agenesis, selective, 1 |
| RS1737950162 | Health Risk | Conflicting classifications of pathogenicity | Hypoplastic enamel-onycholysis-hypohidrosis syndrome, Tooth agenesis, selective |
| RS184700656 | Health Risk | Conflicting classifications of pathogenicity | Craniosynostosis syndrome, Hypoplastic enamel-onycholysis-hypohidrosis syndrome, Craniosynostosis syndrome |
| RS1464389153 | Health Risk | Likely pathogenic | MSX1-related disorder, MSX1-related disorder |
| RS2474113971 | Health Risk | Likely pathogenic | MSX1-related disorder, MSX1-related disorder |
| RS104893850 | Health Risk | Pathogenic | Tooth agenesis, selective, 1 |
| RS104893852 | Health Risk | Pathogenic | Tooth agenesis, selective, 1 |
| RS104893853 | Health Risk | Pathogenic | Hypoplastic enamel-onycholysis-hypohidrosis syndrome, MSX1-related disorder, Hypoplastic enamel-onycholysis-hypohidrosis syndrome |
| RS121913130 | Health Risk | Pathogenic | Tooth agenesis, selective, 1 |
| RS1553877821 | Health Risk | Pathogenic | Tooth agenesis, selective, 1 |
| RS1553878162 | Health Risk | Pathogenic | Hypoplastic enamel-onycholysis-hypohidrosis syndrome, Hypoplastic enamel-onycholysis-hypohidrosis syndrome |
| RS1737950187 | Health Risk | Pathogenic | Hypoplastic enamel-onycholysis-hypohidrosis syndrome, Hypoplastic enamel-onycholysis-hypohidrosis syndrome |
| RS1737950636 | Health Risk | Pathogenic | Hypoplastic enamel-onycholysis-hypohidrosis syndrome, Hypoplastic enamel-onycholysis-hypohidrosis syndrome |
| RS2108777701 | Health Risk | Pathogenic | Hypoplastic enamel-onycholysis-hypohidrosis syndrome, Hypoplastic enamel-onycholysis-hypohidrosis syndrome |
| RS2108777804 | Health Risk | Pathogenic | — |
| RS2108778592 | Health Risk | Pathogenic | Orofacial cleft 5, Orofacial cleft 5 |
| RS2108778623 | Health Risk | Pathogenic | Oligodontia, Oligodontia |
| RS2474111547 | Health Risk | Pathogenic | Tooth agenesis, selective, 1 |
| RS2474113860 | Health Risk | Pathogenic | Hypoplastic enamel-onycholysis-hypohidrosis syndrome, Hypoplastic enamel-onycholysis-hypohidrosis syndrome |
| RS28933081 | Health Risk | Pathogenic | Orofacial cleft 5, Orofacial cleft 5 |
| RS515726227 | Health Risk | Pathogenic | Tooth agenesis, selective, 1 |
| RS761710147 | Health Risk | Pathogenic | Tooth agenesis, selective, 1 |
| RS121913129 | Health Risk | Pathogenic/Likely pathogenic | Tooth agenesis, selective, 1 |