MNX1 Chromosome 7
Motor neuron and pancreas homeobox 1
Upload your DNA to see your personal genotypes for variants in MNX1.
What This Gene Does
This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in this gene result in Currarino syndrome, an autosomic dominant congenital malformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
HOXL subclass homeoboxes
Locus Type
gene with protein product
Location
7q36.3
Ensembl
ENSG00000130675
Associated Conditions (4)
Inborn genetic diseases
MNX1-related disorder
Currarino triad
Abnormality of the vertebral column
Key Variants
RS1064794653
Conflicting classifications of pathogenicity
Inborn genetic diseases, MNX1-related disorder, Inborn genetic diseases
Health Risk
RS370066878
Conflicting classifications of pathogenicity
Health Risk
RS528990697
Conflicting classifications of pathogenicity
Health Risk
RS566911022
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS756772840
Conflicting classifications of pathogenicity
Currarino triad, Inborn genetic diseases, Currarino triad
Health Risk
RS763608839
Conflicting classifications of pathogenicity
Currarino triad, Currarino triad
Health Risk
RS774179857
Conflicting classifications of pathogenicity
Currarino triad, Inborn genetic diseases, Currarino triad
Health Risk
RS866277517
Conflicting classifications of pathogenicity
Currarino triad, Currarino triad
Health Risk
RS1064796665
Likely pathogenic
Health Risk
RS1563700419
Likely pathogenic
Currarino triad, Currarino triad
Health Risk
RS1805601610
Likely pathogenic
Health Risk
RS2134838779
Likely pathogenic
Currarino triad, Currarino triad
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064794653 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, MNX1-related disorder, Inborn genetic diseases |
| RS370066878 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS528990697 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS566911022 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS756772840 | Health Risk | Conflicting classifications of pathogenicity | Currarino triad, Inborn genetic diseases, Currarino triad |
| RS763608839 | Health Risk | Conflicting classifications of pathogenicity | Currarino triad, Currarino triad |
| RS774179857 | Health Risk | Conflicting classifications of pathogenicity | Currarino triad, Inborn genetic diseases, Currarino triad |
| RS866277517 | Health Risk | Conflicting classifications of pathogenicity | Currarino triad, Currarino triad |
| RS1064796665 | Health Risk | Likely pathogenic | — |
| RS1563700419 | Health Risk | Likely pathogenic | Currarino triad, Currarino triad |
| RS1805601610 | Health Risk | Likely pathogenic | — |
| RS2134838779 | Health Risk | Likely pathogenic | Currarino triad, Currarino triad |
| RS2134840114 | Health Risk | Likely pathogenic | — |
| RS2537771120 | Health Risk | Likely pathogenic | MNX1-related disorder, Abnormality of the vertebral column, MNX1-related disorder |
| RS2537773911 | Health Risk | Likely pathogenic | MNX1-related disorder, MNX1-related disorder |
| RS2537774041 | Health Risk | Likely pathogenic | — |
| RS1175404096 | Health Risk | Pathogenic | — |
| RS121912546 | Health Risk | Pathogenic | Currarino triad, Currarino triad |
| RS121912547 | Health Risk | Pathogenic | Currarino triad, Currarino triad |
| RS121912548 | Health Risk | Pathogenic | Currarino triad, Currarino triad |
| RS121912549 | Health Risk | Pathogenic | Currarino triad, Currarino triad |
| RS1327737533 | Health Risk | Pathogenic | — |
| RS1554594245 | Health Risk | Pathogenic | — |
| RS1554594326 | Health Risk | Pathogenic | — |
| RS1554594329 | Health Risk | Pathogenic | Currarino triad, Currarino triad |
| RS1563700090 | Health Risk | Pathogenic | Currarino triad, Currarino triad |
| RS1586595293 | Health Risk | Pathogenic | — |
| RS2134838763 | Health Risk | Pathogenic | — |
| RS2134838783 | Health Risk | Pathogenic | Currarino triad, Currarino triad |
| RS2134840169 | Health Risk | Pathogenic | — |
| RS2134845840 | Health Risk | Pathogenic | — |
| RS2134846034 | Health Risk | Pathogenic | — |
| RS2134846165 | Health Risk | Pathogenic | Currarino triad, Currarino triad |
| RS2134846330 | Health Risk | Pathogenic | Currarino triad, Currarino triad |
| RS2134846391 | Health Risk | Pathogenic | — |
| RS2134847685 | Health Risk | Pathogenic | — |
| RS2537774020 | Health Risk | Pathogenic | — |
| RS2537780039 | Health Risk | Pathogenic | — |
| RS2537780168 | Health Risk | Pathogenic | Currarino triad, Currarino triad |
| RS2537780831 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2537781329 | Health Risk | Pathogenic | Currarino triad, Currarino triad |
| RS2537781362 | Health Risk | Pathogenic | — |
| RS2537781555 | Health Risk | Pathogenic | — |
| RS2537780127 | Health Risk | Pathogenic/Likely pathogenic | MNX1-related disorder, MNX1-related disorder |