WNT1 Chromosome 12
Wnt family member 1
Upload your DNA to see your personal genotypes for variants in WNT1.
What This Gene Does
The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is very conserved in evolution, and the protein encoded by this gene is known to be 98% identical to the mouse Wnt1 protein at the amino acid level. The studies in mouse indicate that the Wnt1 protein functions in the induction of the mesencephalon and cerebellum. This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature. However, further studies suggested that the gene mutations might not have a significant role in Joubert syndrome. This gene is clustered with another family member, WNT10B, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Wnt family
Locus Type
gene with protein product
Location
12q13.12
Ensembl
ENSG00000125084
Associated Conditions (10)
Osteogenesis imperfecta
Inborn genetic diseases
Osteogenesis imperfecta type III
Osteogenesis imperfecta type 15
WNT1-related disorder
OSTEOPOROSIS
EARLY-ONSET
SUSCEPTIBILITY TO
Keratoconus
See cases
Key Variants
RS1207715560
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, Inborn genetic diseases, Osteogenesis imperfecta
Health Risk
RS148154047
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, Osteogenesis imperfecta
Health Risk
RS1592257435
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
Health Risk
RS200151492
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, Inborn genetic diseases, Osteogenesis imperfecta
Health Risk
RS201599168
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, Osteogenesis imperfecta
Health Risk
RS2498947344
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15
Health Risk
RS371672410
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, WNT1-related disorder, Inborn genetic diseases
Health Risk
RS760763815
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS772782141
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, Osteogenesis imperfecta
Health Risk
RS773630541
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, Osteogenesis imperfecta
Health Risk
RS1555178899
Likely pathogenic
Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15
Health Risk
RS1592257820
Likely pathogenic
Health Risk
All Variants (45)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1207715560 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, Inborn genetic diseases, Osteogenesis imperfecta |
| RS148154047 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS1592257435 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type III, Osteogenesis imperfecta type III |
| RS200151492 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, Inborn genetic diseases, Osteogenesis imperfecta |
| RS201599168 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS2498947344 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15 |
| RS371672410 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, WNT1-related disorder, Inborn genetic diseases |
| RS760763815 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772782141 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS773630541 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS1555178899 | Health Risk | Likely pathogenic | Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15 |
| RS1592257820 | Health Risk | Likely pathogenic | — |
| RS2137624585 | Health Risk | Likely pathogenic | Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15 |
| RS2137625424 | Health Risk | Likely pathogenic | Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15 |
| RS2137625459 | Health Risk | Likely pathogenic | Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15 |
| RS2498946534 | Health Risk | Likely pathogenic | Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15 |
| RS2498947644 | Health Risk | Likely pathogenic | — |
| RS387907358 | Health Risk | Likely pathogenic | Osteogenesis imperfecta type 15, Keratoconus, Osteogenesis imperfecta |
| RS387907359 | Health Risk | Likely pathogenic | OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO |
| RS750005846 | Health Risk | Likely pathogenic | WNT1-related disorder, WNT1-related disorder |
| RS1190044936 | Health Risk | Pathogenic | — |
| RS1267271862 | Health Risk | Pathogenic | — |
| RS1941012869 | Health Risk | Pathogenic | — |
| RS2137624355 | Health Risk | Pathogenic | — |
| RS2498945193 | Health Risk | Pathogenic | — |
| RS2498945327 | Health Risk | Pathogenic | — |
| RS2498947383 | Health Risk | Pathogenic | See cases, See cases |
| RS2498947744 | Health Risk | Pathogenic | — |
| RS2498947823 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2498948534 | Health Risk | Pathogenic | — |
| RS387907354 | Health Risk | Pathogenic | Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15 |
| RS387907355 | Health Risk | Pathogenic | Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15 |
| RS387907357 | Health Risk | Pathogenic | Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15 |
| RS727505392 | Health Risk | Pathogenic | Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15 |
| RS769853984 | Health Risk | Pathogenic | — |
| RS778294620 | Health Risk | Pathogenic | Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15 |
| RS779969402 | Health Risk | Pathogenic | Osteogenesis imperfecta type 15, Osteogenesis imperfecta, Osteogenesis imperfecta type 15 |
| RS780460871 | Health Risk | Pathogenic | — |
| RS892838669 | Health Risk | Pathogenic | — |
| RS976018078 | Health Risk | Pathogenic | — |
| RS387907353 | Health Risk | Pathogenic; risk factor | Osteogenesis imperfecta type 15, OSTEOPOROSIS, EARLY-ONSET |
| RS1941014492 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2137625115 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type 15, OSTEOPOROSIS, EARLY-ONSET |
| RS387907356 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type 15, Inborn genetic diseases, OSTEOPOROSIS |
| RS397514702 | Health Risk | risk factor | OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO |