WDR73 Chromosome 15
WD repeat domain 73
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What This Gene Does
The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
15q25.2
Ensembl
ENSG00000177082
Associated Conditions (10)
Galloway-Mowat syndrome 1
Inborn genetic diseases
WDR73-related disorder
Gastric cancer
Cervical cancer
Abnormality of the nervous system
Dystonic disorder
Seizure
Dyskinesia
Nephrotic syndrome
Key Variants
RS1596048227
Conflicting classifications of pathogenicity
Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1
Health Risk
RS185538375
Conflicting classifications of pathogenicity
Inborn genetic diseases, WDR73-related disorder, Inborn genetic diseases
Health Risk
RS201294090
Conflicting classifications of pathogenicity
WDR73-related disorder, WDR73-related disorder
Health Risk
RS201827208
Conflicting classifications of pathogenicity
Galloway-Mowat syndrome 1, Gastric cancer, Cervical cancer
Health Risk
RS370037552
Conflicting classifications of pathogenicity
Galloway-Mowat syndrome 1, Inborn genetic diseases, Galloway-Mowat syndrome 1
Health Risk
RS371698893
Conflicting classifications of pathogenicity
Inborn genetic diseases, Galloway-Mowat syndrome 1, Inborn genetic diseases
Health Risk
RS372259283
Conflicting classifications of pathogenicity
Health Risk
RS373448317
Conflicting classifications of pathogenicity
Galloway-Mowat syndrome 1, Inborn genetic diseases, Galloway-Mowat syndrome 1
Health Risk
RS375811228
Conflicting classifications of pathogenicity
Galloway-Mowat syndrome 1, Inborn genetic diseases, Galloway-Mowat syndrome 1
Health Risk
RS375954913
Conflicting classifications of pathogenicity
Inborn genetic diseases, Galloway-Mowat syndrome 1, Inborn genetic diseases
Health Risk
RS747109506
Conflicting classifications of pathogenicity
Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1, WDR73-related disorder
Health Risk
RS749705611
Conflicting classifications of pathogenicity
Inborn genetic diseases, Galloway-Mowat syndrome 1, Inborn genetic diseases
Health Risk
All Variants (43)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1596048227 | Health Risk | Conflicting classifications of pathogenicity | Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1 |
| RS185538375 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, WDR73-related disorder, Inborn genetic diseases |
| RS201294090 | Health Risk | Conflicting classifications of pathogenicity | WDR73-related disorder, WDR73-related disorder |
| RS201827208 | Health Risk | Conflicting classifications of pathogenicity | Galloway-Mowat syndrome 1, Gastric cancer, Cervical cancer |
| RS370037552 | Health Risk | Conflicting classifications of pathogenicity | Galloway-Mowat syndrome 1, Inborn genetic diseases, Galloway-Mowat syndrome 1 |
| RS371698893 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Galloway-Mowat syndrome 1, Inborn genetic diseases |
| RS372259283 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373448317 | Health Risk | Conflicting classifications of pathogenicity | Galloway-Mowat syndrome 1, Inborn genetic diseases, Galloway-Mowat syndrome 1 |
| RS375811228 | Health Risk | Conflicting classifications of pathogenicity | Galloway-Mowat syndrome 1, Inborn genetic diseases, Galloway-Mowat syndrome 1 |
| RS375954913 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Galloway-Mowat syndrome 1, Inborn genetic diseases |
| RS747109506 | Health Risk | Conflicting classifications of pathogenicity | Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1, WDR73-related disorder |
| RS749705611 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Galloway-Mowat syndrome 1, Inborn genetic diseases |
| RS769933431 | Health Risk | Conflicting classifications of pathogenicity | Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1 |
| RS772737144 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Galloway-Mowat syndrome 1, Inborn genetic diseases |
| RS869320712 | Health Risk | Conflicting classifications of pathogenicity | Galloway-Mowat syndrome 1, WDR73-related disorder, Galloway-Mowat syndrome 1 |
| RS1482196384 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1 |
| RS1567021756 | Health Risk | Likely pathogenic | — |
| RS1896724611 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1 |
| RS2141846587 | Health Risk | Likely pathogenic | Abnormality of the nervous system, Abnormality of the nervous system |
| RS371794750 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1 |
| RS755655527 | Health Risk | Likely pathogenic | — |
| RS768820873 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1 |
| RS797044993 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1 |
| RS863223396 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1 |
| RS866551482 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1 |
| RS1337668635 | Health Risk | Pathogenic | — |
| RS1596050243 | Health Risk | Pathogenic | — |
| RS1596050297 | Health Risk | Pathogenic | Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1 |
| RS1596050386 | Health Risk | Pathogenic | Dystonic disorder, Dystonic disorder |
| RS1596050605 | Health Risk | Pathogenic | — |
| RS1596057578 | Health Risk | Pathogenic | Seizure, Dyskinesia, Seizure |
| RS2505383497 | Health Risk | Pathogenic | Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1 |
| RS727502863 | Health Risk | Pathogenic | Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1 |
| RS754099015 | Health Risk | Pathogenic | Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1 |
| RS767086146 | Health Risk | Pathogenic | Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1 |
| RS797044994 | Health Risk | Pathogenic | Galloway-Mowat syndrome 1, Nephrotic syndrome, Galloway-Mowat syndrome 1 |
| RS1282630153 | Health Risk | Pathogenic/Likely pathogenic | Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1 |
| RS1896432430 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Galloway-Mowat syndrome 1, Inborn genetic diseases |
| RS2141837067 | Health Risk | Pathogenic/Likely pathogenic | Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1 |
| RS727502864 | Health Risk | Pathogenic/Likely pathogenic | Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1 |
| RS763696297 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Galloway-Mowat syndrome 1, Inborn genetic diseases |
| RS797044992 | Health Risk | Pathogenic/Likely pathogenic | Galloway-Mowat syndrome 1, Nephrotic syndrome, Galloway-Mowat syndrome 1 |
| RS797044995 | Health Risk | Pathogenic/Likely pathogenic | Galloway-Mowat syndrome 1, Nephrotic syndrome, Galloway-Mowat syndrome 1 |