PAX1 Chromosome 20
Paired box 1
Upload your DNA to see your personal genotypes for variants in PAX1.
What This Gene Does
This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
Paired boxes
Locus Type
gene with protein product
Location
20p11.22
Ensembl
ENSG00000125813
Associated Conditions (4)
Inborn genetic diseases
Otofaciocervical syndrome 2
PAX1-related disorder
Craniofacial microsomia
Key Variants
RS1347724154
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1368682729
Conflicting classifications of pathogenicity
Otofaciocervical syndrome 2, Otofaciocervical syndrome 2
Health Risk
RS148928178
Conflicting classifications of pathogenicity
PAX1-related disorder, PAX1-related disorder
Health Risk
RS1555804794
Conflicting classifications of pathogenicity
Otofaciocervical syndrome 2, Otofaciocervical syndrome 2
Health Risk
RS189207240
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1984968688
Conflicting classifications of pathogenicity
Otofaciocervical syndrome 2, Otofaciocervical syndrome 2
Health Risk
RS368123079
Conflicting classifications of pathogenicity
Health Risk
RS754338004
Conflicting classifications of pathogenicity
Otofaciocervical syndrome 2, Otofaciocervical syndrome 2
Health Risk
RS759082809
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS775417793
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1555804780
Likely pathogenic
Otofaciocervical syndrome 2, Otofaciocervical syndrome 2
Health Risk
RS2122139471
Likely pathogenic
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1347724154 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1368682729 | Health Risk | Conflicting classifications of pathogenicity | Otofaciocervical syndrome 2, Otofaciocervical syndrome 2 |
| RS148928178 | Health Risk | Conflicting classifications of pathogenicity | PAX1-related disorder, PAX1-related disorder |
| RS1555804794 | Health Risk | Conflicting classifications of pathogenicity | Otofaciocervical syndrome 2, Otofaciocervical syndrome 2 |
| RS189207240 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1984968688 | Health Risk | Conflicting classifications of pathogenicity | Otofaciocervical syndrome 2, Otofaciocervical syndrome 2 |
| RS368123079 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754338004 | Health Risk | Conflicting classifications of pathogenicity | Otofaciocervical syndrome 2, Otofaciocervical syndrome 2 |
| RS759082809 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS775417793 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1555804780 | Health Risk | Likely pathogenic | Otofaciocervical syndrome 2, Otofaciocervical syndrome 2 |
| RS2122139471 | Health Risk | Likely pathogenic | — |
| RS2122139711 | Health Risk | Likely pathogenic | Craniofacial microsomia, Craniofacial microsomia |
| RS1158294764 | Health Risk | Pathogenic | Otofaciocervical syndrome 2, Otofaciocervical syndrome 2 |
| RS1255841566 | Health Risk | Pathogenic | — |
| RS1359631755 | Health Risk | Pathogenic | — |
| RS1880141601 | Health Risk | Pathogenic | — |
| RS1985007962 | Health Risk | Pathogenic | Otofaciocervical syndrome 2, Otofaciocervical syndrome 2 |
| RS1985008715 | Health Risk | Pathogenic | Otofaciocervical syndrome 2, Otofaciocervical syndrome 2 |
| RS2514799008 | Health Risk | Pathogenic | — |
| RS2514799393 | Health Risk | Pathogenic | — |
| RS2514799744 | Health Risk | Pathogenic | — |
| RS540296842 | Health Risk | Pathogenic | Otofaciocervical syndrome 2, Otofaciocervical syndrome 2 |
| RS955802904 | Health Risk | Pathogenic | — |
| RS1266250537 | Health Risk | Pathogenic/Likely pathogenic | — |