Wilms Tumour
Gene: TP53
TP53 (tumor protein p53)
EnsemblGeneIds (GRCh38): ENSG00000141510
EnsemblGeneIds (GRCh37): ENSG00000141510
OMIM: 191170, Gene2Phenotype
TP53 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000141510
EnsemblGeneIds (GRCh37): ENSG00000141510
OMIM: 191170, Gene2Phenotype
TP53 is in 18 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive. Limited evidence for presentation with Wilms tumour in disease.
Sources: Expert list, Expert ReviewCreated: 26 Sep 2024, 1:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Wilms tumor, MONDO:0006058; Li-Fraumeni syndrome, MONDO:0018875; Li-Fraumeni syndrome, MIM#151623
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert Review
- Expert list
- Phenotypes
-
- Wilms tumor, MONDO:0006058
- Li-Fraumeni syndrome, MONDO:0018875
- Li-Fraumeni syndrome, MIM#151623
- OMIM
- 191170
- Clinvar variants
- Variants in TP53
- Penetrance
- None
- Panels with this gene
-
- Additional findings_Adult
- Prostate Cancer
- Breast Cancer
- Ovarian Cancer
- Incidentalome_PREGEN_DRAFT
- Pancreatic Cancer
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Sarcoma soft tissue
- Transplant Co-Morbidity Superpanel
- Colorectal Cancer and Polyposis
- Cancer Predisposition_Paediatric
- Medulloblastoma
- Endometrial Cancer
- Incidentalome
- Additional findings_Paediatric
- Wilms Tumour
- Sarcoma non-soft tissue
History Filter Activity
9 Oct 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tp53 has been classified as Red List (Low Evidence).
26 Sep 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: TP53 was added gene: TP53 was added to Wilms Tumour. Sources: Expert list,Expert Review Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TP53 were set to Wilms tumor, MONDO:0006058; Li-Fraumeni syndrome, MONDO:0018875; Li-Fraumeni syndrome, MIM#151623 Review for gene: TP53 was set to RED