Medulloblastoma
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. Medulloblastoma reported in condition.
Consider possibility that an identified variant could represent ACE (aberrant clonal expansion), which can be due to clonal haematopoiesis of indeterminate potential (CHIP) or an occult hematologic malignancy, especially in older patients who have undergone prior chemotherapy (PMID: 36040522).Created: 12 Sep 2024, 9:43 p.m. | Last Modified: 13 Sep 2024, 1:24 a.m.
Panel Version: 0.25
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Medulloblastoma, MONDO:0007959; Li-Fraumeni syndrome, MONDO:0018875; Li-Fraumeni syndrome, MIM#151623
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- SA Pathology
- Phenotypes
-
- Medulloblastoma, MONDO:0007959
- 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: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tp53 has been classified as Green List (High Evidence).
9 Oct 2024, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TP53 were changed from to Medulloblastoma, MONDO:0007959; Li-Fraumeni syndrome, MONDO:0018875; Li-Fraumeni syndrome, MIM#151623
9 Aug 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TP53 was added gene: TP53 was added to Medulloblastoma. Sources: SA Pathology,Expert Review Green Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted