Gene: WT1

Alternate names for this Gene: AWT1|GUD|NPHS4|WAGR|WIT-2|WT33

Gene Summary: 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11p13

Description of this Gene: WT1 transcription factor

Type of Gene: protein-coding

rs5030317 in WT1 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs121907909 in WT1 gene and Denys-Drash Syndrome PMID 23515051 2013 Genetic screening in adolescents with steroid-resistant nephrotic syndrome.

PMID 21851196 2011 Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.

PMID 9108089 1997 Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology.

PMID 10571943 1999 Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome.

PMID 15150775 2004 Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.

PMID 27241786 2016 Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.

PMID 9499425 1998 Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.

PMID 9398852 1997 Donor splice-site mutations in WT1 are responsible for Frasier syndrome.

PMID 1302008 1992 Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.

PMID 10762296 2000 Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?

rs121907909 in WT1 gene and Frasier Syndrome PMID 23515051 2013 Genetic screening in adolescents with steroid-resistant nephrotic syndrome.

PMID 21851196 2011 Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.

PMID 9108089 1997 Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology.

PMID 10571943 1999 Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome.

PMID 15150775 2004 Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.

PMID 23295293 2012 Frasier syndrome: four new cases with unusual presentations.

PMID 9499425 1998 Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.

PMID 28204945 2017 Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.

PMID 1302008 1992 Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.

PMID 24856380 2014 Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.

PMID 25818337 2015 Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1.

rs1057519745 in WT1 gene and Leukemia, Myelocytic, Acute PMID 24374862 2014 WT1 overexpression affecting clinical outcome in non-hodgkin lymphomas and adult acute lymphoblastic leukemia.

PMID 24667279 2014 Overexpression of Wilms tumor 1 gene as a negative prognostic indicator in acute myeloid leukemia.

PMID 24659740 2014 Clinical impact of gene mutations and lesions detected by SNP-array karyotyping in acute myeloid leukemia patients in the context of gemtuzumab ozogamicin treatment: results of the ALFA-0701 trial.

PMID 24521058 2014 WT1 vaccination in acute myeloid leukemia: new methods of implementing adoptive immunotherapy.

PMID 24422723 2014 Wilms' Tumour 1 (WT1) peptide vaccination in patients with acute myeloid leukaemia induces short-lived WT1-specific immune responses.

PMID 24671364 2014 Relapse assessment following allogeneic SCT in patients with MDS and AML.

rs587776576 in WT1 gene and NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE PMID 1302008 1992 Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.

PMID 23515051 2013 Genetic screening in adolescents with steroid-resistant nephrotic syndrome.

PMID 20442690 2010 WT1 gene mutations in Chinese children with early onset nephrotic syndrome.

PMID 9499425 1998 Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.

rs587776576 in WT1 gene and NEPHROTIC SYNDROME, TYPE 4 PMID 1302008 1992 Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.

rs121907909 in WT1 gene and Nephroblastoma PMID 10571943 1999 Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome.

PMID 23515051 2013 Genetic screening in adolescents with steroid-resistant nephrotic syndrome.

PMID 21851196 2011 Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.

PMID 9108089 1997 Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology.

PMID 15150775 2004 Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

rs4986811 in WT1 gene and Soluble Interleukin 6 Receptor Measurement PMID 29253144 2018 Polymorphisms in the Wilms Tumor Gene Are Associated With Interindividual Variations in Rubella Virus-Specific Cellular Immunity After Measles-Mumps-Rubella II Vaccination.

rs587776576 in WT1 gene and Steroid-resistant nephrotic syndrome PMID 1302008 1992 Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.

rs5030179 in WT1 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121907909 in WT1 gene and WAGR Syndrome PMID 9108089 1997 Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology.

PMID 21851196 2011 Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.

PMID 23515051 2013 Genetic screening in adolescents with steroid-resistant nephrotic syndrome.

PMID 10571943 1999 Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome.

PMID 15150775 2004 Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.

rs7110547 in WT1 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.