WDR72 Chromosome 15
WD repeat domain 72
Upload your DNA to see your personal genotypes for variants in WDR72.
What This Gene Does
This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
15q21.3
Ensembl
ENSG00000166415
Associated Conditions (13)
WDR72-related disorder
Inborn genetic diseases
Amelogenesis imperfecta hypomaturation type 2A3
Thymoma
Cholangiocarcinoma
Distal renal tubular acidosis
Amelogenesis imperfecta
Renal tubular acidosis
distal
4
with hemolytic anemia
Renal tubulopathies
Hypophosphatemic rickets
Key Variants
RS12905755
Conflicting classifications of pathogenicity
Health Risk
RS138555114
Conflicting classifications of pathogenicity
WDR72-related disorder, Inborn genetic diseases, WDR72-related disorder
Health Risk
RS144767107
Conflicting classifications of pathogenicity
Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3
Health Risk
RS148643501
Conflicting classifications of pathogenicity
Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3
Health Risk
RS150548151
Conflicting classifications of pathogenicity
Amelogenesis imperfecta hypomaturation type 2A3, WDR72-related disorder, Inborn genetic diseases
Health Risk
RS17630660
Conflicting classifications of pathogenicity
Thymoma, Cholangiocarcinoma, Thymoma
Health Risk
RS57737580
Conflicting classifications of pathogenicity
WDR72-related disorder, WDR72-related disorder, WDR72-related disorder
Health Risk
RS142154661
Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3
Health Risk
RS1431736022
Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3
Health Risk
RS2017517553
Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3
Health Risk
RS2140558454
Likely pathogenic
Distal renal tubular acidosis, Distal renal tubular acidosis
Health Risk
RS2542109823
Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3
Health Risk
All Variants (29)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS12905755 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138555114 | Health Risk | Conflicting classifications of pathogenicity | WDR72-related disorder, Inborn genetic diseases, WDR72-related disorder |
| RS144767107 | Health Risk | Conflicting classifications of pathogenicity | Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3 |
| RS148643501 | Health Risk | Conflicting classifications of pathogenicity | Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3 |
| RS150548151 | Health Risk | Conflicting classifications of pathogenicity | Amelogenesis imperfecta hypomaturation type 2A3, WDR72-related disorder, Inborn genetic diseases |
| RS17630660 | Health Risk | Conflicting classifications of pathogenicity | Thymoma, Cholangiocarcinoma, Thymoma |
| RS57737580 | Health Risk | Conflicting classifications of pathogenicity | WDR72-related disorder, WDR72-related disorder, WDR72-related disorder |
| RS142154661 | Health Risk | Likely pathogenic | Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3 |
| RS1431736022 | Health Risk | Likely pathogenic | Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3 |
| RS2017517553 | Health Risk | Likely pathogenic | Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3 |
| RS2140558454 | Health Risk | Likely pathogenic | Distal renal tubular acidosis, Distal renal tubular acidosis |
| RS2542109823 | Health Risk | Likely pathogenic | Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3 |
| RS2543065306 | Health Risk | Likely pathogenic | Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3 |
| RS756471926 | Health Risk | Likely pathogenic | Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3 |
| RS757690372 | Health Risk | Likely pathogenic | Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3 |
| RS774263130 | Health Risk | Likely pathogenic | — |
| RS779460257 | Health Risk | Likely pathogenic | Amelogenesis imperfecta, Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta |
| RS1266819147 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS143816093 | Health Risk | Pathogenic | Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3 |
| RS2542089179 | Health Risk | Pathogenic | Amelogenesis imperfecta, Amelogenesis imperfecta |
| RS2543070545 | Health Risk | Pathogenic | Amelogenesis imperfecta, Amelogenesis imperfecta |
| RS267607178 | Health Risk | Pathogenic | Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3 |
| RS557128345 | Health Risk | Pathogenic | Amelogenesis imperfecta hypomaturation type 2A3, Renal tubular acidosis, distal |
| RS606231351 | Health Risk | Pathogenic | Amelogenesis imperfecta hypomaturation type 2A3, Renal tubulopathies, Amelogenesis imperfecta hypomaturation type 2A3 |
| RS606231462 | Health Risk | Pathogenic | Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3 |
| RS764406738 | Health Risk | Pathogenic | Amelogenesis imperfecta, Amelogenesis imperfecta |
| RS768446132 | Health Risk | Pathogenic | Renal tubular acidosis, distal, 4 |
| RS1469562355 | Health Risk | Pathogenic/Likely pathogenic | Distal renal tubular acidosis, Hypophosphatemic rickets, Distal renal tubular acidosis |
| RS770804941 | Health Risk | Pathogenic/Likely pathogenic | Amelogenesis imperfecta, Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta |