WNT1 Chromosome 12

Wnt family member 1
45 variants 45 Health Risk

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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
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
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