ACMG logo On incidental findings list [Article:23788249]

Gene:
WT1
Wilms tumor 1

PharmGKB contains no prescribing info for this . Contact us to report known genotype-based dosing guidelines, or if you are interested in developing guidelines.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

List of all variant annotations for WT1

Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
rs16754 NC_000011.10:g.32396399T>C, NC_000011.9:g.32417945T>C, NG_009272.1:g.44143A>G, NM_000378.4:c.1056A>G, NM_001198551.1:c.471A>G, NM_001198552.1:c.420A>G, NM_024424.3:c.1107A>G, NM_024426.3:c.1107A>G, NM_024426.4:c.1107A>G, NP_000369.3:p.Arg352=, NP_001185480.1:p.Arg157=, NP_001185481.1:p.Arg140=, NP_077742.2:p.Arg369=, NP_077744.3:p.Arg369=, XM_005253120.1:c.852A>G, XP_005253177.1:p.Arg284=, rs117092049, rs17846027, rs17859011, rs386540677, rs5030275, rs59880152
T > C
SNP
R352R
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names:  GUD
Alternate Symbols:  AWT1; WAGR; WIT-2
PharmGKB Accession Id: PA37395

Details

Cytogenetic Location: chr11 : p13 - p13
GP mRNA Boundary: chr11 : 32408789 - 32457104
GP Gene Boundary: chr11 : 32405789 - 32467104
Strand: minus

Visualization

UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.
No related genes are available

Curated Information ?

Evidence Drug
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
salbutamol

Curated Information ?

Publications related to WT1: 5

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Wilms tumor gene single nucleotide polymorphism rs16754 predicts a favorable outcome in children with acute lymphoblastic leukemia. Journal of cancer research and clinical oncology. 2015. Junghanns Anne-Sophie, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Incidences and Prognostic Impact of c-KIT, WT1, CEBPA, and CBL Mutations, and Mutations Associated With Epigenetic Modification in Core Binding Factor Acute Myeloid Leukemia: A Multicenter Study in a Korean Population. Annals of laboratory medicine. 2015. Park Sang Hyuk, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in medicine : official journal of the American College of Medical Genetics. 2013. Green Robert C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A polymorphism in the thyroid hormone receptor gene is associated with bronchodilator response in asthmatics. The pharmacogenomics journal. 2012. Duan Q L, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic factors in congenital diaphragmatic hernia. American journal of human genetics. 2007. Holder A M, et al. PubMed

LinkOuts

RefSeq DNA:
NG_009272
NT_009237
UniProtKB:
B3KSA5_HUMAN (B3KSA5)
WT1_HUMAN (P19544)
Ensembl:
ENSG00000184937
GenAtlas:
WT1
GeneCard:
WT1
MutDB:
WT1
ALFRED:
LO000282M
HuGE:
WT1
Comparative Toxicogenomics Database:
7490
ModBase:
P19544
HGNC:
12796

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