Gene
WT1
WT1 transcription factor
- HGNC 12796↗(opens in a new tab)
- Ensembl gene ENSG00000184937↗(opens in a new tab)
- NCBI Gene 7490↗(opens in a new tab)
Summary
- Cytogenetic location
- 11p13
- Coordinates
- Chromosome 11: 32,387,775–32,435,539 (GRCh38)
- Exons
- 10 exons across 47.8 kb
- Protein
- 522 amino acids
- Also known as
- WAGR, WIT-2, AWT1, NPHS4, WT-1
- Previous symbols
- GUD
- MANE Select transcript
- ENST00000452863.10NM_024426.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
46,XY Differences of Sex Development and Gonadal Dysgenesis
- 46,XY differences of sex development
Conditions in people with XY chromosomes in which gonadal or genital development is atypical, caused by variants in genes such as SRD5A2, HSD17B3, NR5A1, MAP3K1, DHH, WT1, CYP11A1 and LHCGR.
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Diagnosis informs hormone treatment, fertility counselling and, where dysgenetic gonads carry Y material, assessment of gonadal tumour risk.
Hereditary Wilms Tumour
Inherited susceptibility to Wilms tumour (nephroblastoma), including WT1- and REST-related forms.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
- On the ACMG secondary findings list
What knowing changes
Regular kidney ultrasound in early childhood allows tumours to be found early; WT1 carriers may also need kidney-function and gonadal checks.
How WT1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3 kb of the gene's 47.8 kb; 1,569 of those bases code for the protein.
How a genome test reads WT1
112
positions in WT1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 47.8 kb of WT1, introns included, not only the 3 kb of exons.
Variants with a page (19)
The WT1 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.965+1G>A | Intron 4 | 32,417,576 | Likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1447+4C>T1432+4C>T | Intron 9 | 32,391,968 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1447+5G>A1432+5G>A | Intron 9 | 32,391,967 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1448-1G>A | Intron 9 | 32,389,180 | Likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| G152Afs*11 | c.455del | Exon 1 | 32,434,905 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H446Q | c.1338C>A | Exon 8 | 32,392,682 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H450Y | c.1348C>T | Exon 8 | 32,392,672 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P137Rfs*26 | c.410del | Exon 1 | 32,434,950 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q462X | c.1384C>T | Exon 9 | 32,392,035 | Likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R374X | c.1120C>T | Exon 7 | 32,396,401 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
Genes linked to the same conditions
- ARandrogen receptorShares 1 condition
- ATRXATRX chromatin remodelerShares 1 condition
- CYP11A1cytochrome P450 family 11 subfamily A member 1Shares 1 condition
- DHHdesert hedgehog signaling moleculeShares 1 condition
- DMRT1doublesex and mab-3 related transcription factor 1Shares 1 condition
- GATA4GATA binding protein 4Shares 1 condition
- HHAThedgehog acyltransferaseShares 1 condition
- HSD17B3hydroxysteroid 17-beta dehydrogenase 3Shares 1 condition
- MAP3K1mitogen-activated protein kinase kinase kinase 1Shares 1 condition
- NR5A1nuclear receptor subfamily 5 group A member 1Shares 1 condition
- RESTRE1 silencing transcription factorShares 1 condition
- SRD5A2steroid 5 alpha-reductase 2Shares 1 condition
Traits linked to WT1
The Human Phenotype Ontology lists these as features of the rare conditions WT1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the genitourinary system
- Ambiguous genitalia in males
- Diffuse mesangial sclerosis
- Double uterus
- Double vagina
- Enlarged kidney
- Focal segmental glomerulosclerosis
- Glomerulopathy
- Gonadal dysgenesis
Show 53 more traits
- Male pseudohermaphroditism
- Nephrotic syndrome
- Ovarian gonadoblastoma
- Primary amenorrhea
- Stage 5 chronic kidney disease
- Abnormal fallopian tube morphology
- Abnormal internal genitalia
- Abnormal labia morphology
- Abnormal scrotum morphology
- Abnormal sex determination
- Abnormal vagina morphology
- Abnormally closed or absent vagina
- Absent sperm in semen
- Ambiguous external genitalia
- Decreased fertility in females
- Decreased testicular size
- Dysplastic testis
- Enlarged clitoris
- Female external genitalia in individual with 46,XY karyotype
- Gonadal dysgenesis with female appearance, male
- Hypospadias
- Kidney damage
- Male infertility
- Nephroblastoma
- Polycystic ovaries
- Short penis
- Streak ovary
- Underdeveloped penis
- Underdeveloped vagina
- Urogenital sinus anomaly
- Vanishing testis
- Chronic kidney disease
- Displacement of the urethral meatus
- Gonadoblastoma
- Hydrometrocolpos
- Renal failure
- Undescended testes
- Abnormal kidney location
- Abnormal uterus morphology
- Abnormality of the uterus
- Blind vagina
- Crossed fused renal ectopia
- Ectopic testis
- Heart shaped uterus
- Horseshoe kidney
- Minimal change glomerulonephritis
- Ovarian cancer
- Testicular cancer
- Testicular gonadoblastoma
- Varicocele
- Atypical appearance of female genitals
- Gonadal tissue inappropriate for external genitalia or chromosomal sex
- True hermaphroditism
Abnormality of the cardiovascular system
- Retinal vascular tortuosity
- Swollen lymph nodes
- High blood pressure
- Swollen lymph nodes in center of chest
- Underdeveloped left heart
- Abnormality of the spleen
- Accessory spleen
- All organs on wrong side of body
Show 18 more traits
- An opening in the wall separating the top two chambers of the heart
- Anomalous pulmonary venous return
- Aortic valve has two leaflets rather than three
- Cardiac total anomalous pulmonary venous connection
- Common atrium
- Conotruncal defect
- Heart tip and four chambers point towards right side of body
- Hole in heart wall separating two lower heart chambers
- Narrowing of aorta
- Narrowing of aortic valve
- Partial anomalous pulmonary venous return
- Patent ductus arteriosus
- Persistent left superior vena cava
- Right aortic arch
- Scimitar anomaly
- Tetralogy of Fallot
- Transposition of the great arteries
- Abnormal cardiovascular system morphology
Abnormality of the eye
- Absent iris
- Anterior subcapsular cataract
- Chorioretinal hypopigmentation
- Damage to outer layer of the cornea of the eye
- Displaced pupil
- Drooping of both upper eyelids
- Hypoplasia of the fovea
- Outward facing eye ball
Show 13 more traits
Laboratory abnormality
- High urine protein levels
- Fluid retention
- Bloody urine
- Fever
- Foamy urine
- High blood calcium levels
- Low albumin
- Small amount of blood in urine
Show 2 more traits
Abnormality of the respiratory system
- Neonatal respiratory distress
- Absent/small lungs
- Abnormal lung lobation
- Poorly developed lungs
- Pulmonary sequestration
- Congenital alveolar dysplasia
- Lung cancer
- Respiratory tract infection
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). WT1 gene: WT1 transcription factor. Retrieved 16 October 2026, from https://dantelabs.com/genes/wt1
Dante Labs. WT1 gene: WT1 transcription factor [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/wt1
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