WT1 Chromosome 11
WT1 transcription factor
Upload your DNA to see your personal genotypes for variants in WT1.
What This Gene Does
This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilms tumor. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants, there is evidence for the use of a non-AUG (CUG) translation initiation codon upstream of, and in-frame with the first AUG. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq, Mar 2015]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
11p13
Ensembl
ENSG00000184937
Associated Conditions (31)
Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Hereditary cancer-predisposing syndrome
8 conditions
Inborn genetic diseases
Nephrotic syndrome
type 4
Focal segmental glomerulosclerosis
6 conditions
Acute myeloid leukemia
WT1-related disorder
Ovarian cancer
Meacham syndrome
Hereditary cancer
Kidney disorder
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Ambiguous genitalia
Disorder of sexual differentiation
+11 more conditions
Key Variants
RS1036899554
Conflicting classifications of pathogenicity
Drash syndrome, Frasier syndrome, Wilms tumor 1
Health Risk
RS1037084691
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 4, Focal segmental glomerulosclerosis
Health Risk
RS1170323988
Conflicting classifications of pathogenicity
Drash syndrome, Frasier syndrome, Wilms tumor 1
Health Risk
RS1189241211
Conflicting classifications of pathogenicity
Drash syndrome, Frasier syndrome, Wilms tumor 1
Health Risk
RS1214646426
Conflicting classifications of pathogenicity
Drash syndrome, Frasier syndrome, Wilms tumor 1
Health Risk
RS1298313010
Conflicting classifications of pathogenicity
Drash syndrome, Frasier syndrome, Wilms tumor 1
Health Risk
RS1308955642
Conflicting classifications of pathogenicity
Drash syndrome, Frasier syndrome, Wilms tumor 1
Health Risk
RS1309250331
Conflicting classifications of pathogenicity
Drash syndrome, Frasier syndrome, Wilms tumor 1
Health Risk
RS1314273962
Conflicting classifications of pathogenicity
Wilms tumor 1, Inborn genetic diseases, Wilms tumor 1
Health Risk
RS1327516147
Conflicting classifications of pathogenicity
Frasier syndrome, Drash syndrome, Wilms tumor 1
Health Risk
RS1330792627
Conflicting classifications of pathogenicity
Drash syndrome, Frasier syndrome, Wilms tumor 1
Health Risk
RS1341857958
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 4, Wilms tumor 1
Health Risk
All Variants (244)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2132915155 | Health Risk | Pathogenic | Drash syndrome, Frasier syndrome, Wilms tumor 1 |
| RS2132920130 | Health Risk | Pathogenic | Nephrotic syndrome, type 4, Nephrotic syndrome |
| RS2132920775 | Health Risk | Pathogenic | Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome |
| RS2132939500 | Health Risk | Pathogenic | Drash syndrome, Wilms tumor 1, 11p partial monosomy syndrome |
| RS2132942163 | Health Risk | Pathogenic | Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome |
| RS2132942367 | Health Risk | Pathogenic | Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome |
| RS2132957763 | Health Risk | Pathogenic | Drash syndrome, Frasier syndrome, Wilms tumor 1 |
| RS2133037431 | Health Risk | Pathogenic | Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome |
| RS2133072022 | Health Risk | Pathogenic | Drash syndrome, Frasier syndrome, Wilms tumor 1 |
| RS2133072543 | Health Risk | Pathogenic | Wilms tumor 1, Drash syndrome, Frasier syndrome |
| RS2133073037 | Health Risk | Pathogenic | Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome |
| RS2133101249 | Health Risk | Pathogenic | Drash syndrome, Frasier syndrome, Wilms tumor 1 |
| RS2133102575 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS2133104248 | Health Risk | Pathogenic | Drash syndrome, Frasier syndrome, Wilms tumor 1 |
| RS2133104877 | Health Risk | Pathogenic | Drash syndrome, Wilms tumor 1, 11p partial monosomy syndrome |
| RS2133105444 | Health Risk | Pathogenic | Drash syndrome, Frasier syndrome, Wilms tumor 1 |
| RS2494426569 | Health Risk | Pathogenic | WT1-related disorder, WT1-related disorder |
| RS2494431103 | Health Risk | Pathogenic | Drash syndrome, Drash syndrome |
| RS2494432008 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS2494474867 | Health Risk | Pathogenic | Drash syndrome, Frasier syndrome, Wilms tumor 1 |
| RS2494475674 | Health Risk | Pathogenic | WT1-related disorder, WT1-related disorder |
| RS2494478145 | Health Risk | Pathogenic | Drash syndrome, Frasier syndrome, Wilms tumor 1 |
| RS2494478246 | Health Risk | Pathogenic | Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome |
| RS2494481609 | Health Risk | Pathogenic | WT1-related disorder, WT1-related disorder |
| RS2494482513 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS2494484801 | Health Risk | Pathogenic | Drash syndrome, Wilms tumor 1, Frasier syndrome |
| RS2494486169 | Health Risk | Pathogenic | Drash syndrome, Wilms tumor 1, Frasier syndrome |
| RS2494732058 | Health Risk | Pathogenic | Drash syndrome, Frasier syndrome, Wilms tumor 1 |
| RS2494825871 | Health Risk | Pathogenic | Drash syndrome, Frasier syndrome, Wilms tumor 1 |
| RS28941777 | Health Risk | Pathogenic | Nephrotic syndrome, type 4, Nephrotic syndrome |
| RS28941779 | Health Risk | Pathogenic | Frasier syndrome, Frasier syndrome |
| RS587776573 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS587776574 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS587776575 | Health Risk | Pathogenic | Frasier syndrome, Frasier syndrome |
| RS587776576 | Health Risk | Pathogenic | Drash syndrome, Frasier syndrome, Familial idiopathic steroid-resistant nephrotic syndrome |
| RS977632626 | Health Risk | Pathogenic | Drash syndrome, Frasier syndrome, Wilms tumor 1 |
| RS121907900 | Health Risk | Pathogenic/Likely pathogenic | Drash syndrome, Nephrotic syndrome, type 4 |
| RS121907903 | Health Risk | Pathogenic/Likely pathogenic | Drash syndrome, WT1-related disorder, Kidney disorder |
| RS2132919280 | Health Risk | Pathogenic/Likely pathogenic | WT1-related disorder, 6 conditions, WT1-related disorder |
| RS2133103216 | Health Risk | Pathogenic/Likely pathogenic | Frasier syndrome, Wilms tumor 1, 11p partial monosomy syndrome |
| RS2494480771 | Health Risk | Pathogenic/Likely pathogenic | Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome |
| RS28941778 | Health Risk | Pathogenic/Likely pathogenic | Drash syndrome, Nephrotic syndrome, type 4 |
| RS28942089 | Health Risk | Pathogenic/Likely pathogenic | Nephrotic syndrome, type 4, Drash syndrome |
| RS587776577 | Health Risk | Pathogenic/Likely pathogenic | Frasier syndrome, Nephrotic syndrome, type 4 |