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WT1 WT1 transcription factor

Gene ID: 7490, updated on 21-Mar-2023
Gene type: protein coding
Also known as: GUD; AWT1; WAGR; WT-1; WT33; NPHS4; WIT-2


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]

Associated conditions

See all available tests in GTR for this gene

11p partial monosomy syndrome
MedGen: C0206115OMIM: 194072GeneReviews: PAX6-Related Aniridia
See labs
Aniridia 1
MedGen: C0344542OMIM: 106210GeneReviews: PAX6-Related Aniridia
See labs
Common variants at 11p13 are associated with susceptibility to tuberculosis.
GeneReviews: Not available
Drash syndrome
MedGen: C0950121OMIM: 194080GeneReviews: WT1 Disorder
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Frasier syndrome
MedGen: C0950122OMIM: 136680GeneReviews: WT1 Disorder
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Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
GeneReviews: Not available
Meacham syndrome
MedGen: C1837026OMIM: 608978GeneReviews: WT1 Disorder
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Mesothelioma, malignant
MedGen: C0345967OMIM: 156240GeneReviews: Not available
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Nephrotic syndrome, type 4
MedGen: C3151568OMIM: 256370GeneReviews: WT1 Disorder
See labs
Wilms tumor 1See labs

Copy number response

Copy number response

No evidence available (Last evaluated 2022-01-25)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated 2022-01-25)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 11; NC_000011.10 (32387775..32435539, complement)
Total number of exons:


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