Multiple Tumours
Gene: TP53EnsemblGeneIds (GRCh38): ENSG00000141510
EnsemblGeneIds (GRCh37): ENSG00000141510
OMIM: 191170, Gene2Phenotype
TP53 is in 26 panels
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:47 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Li-Fraumeni SyndromeBreast cancer
- Sarcoma
- Adrenocortical carcinoma
- Astrocytoma
- Glioblastoma
- Familial breast cancer
- Multiple endocrine tumours
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- OMIM
- 191170
- Clinvar variants
- Variants in TP53
- Penetrance
- Complete
- Panels with this gene
-
- Inherited ovarian cancer (without breast cancer)
- Cytopenia - NOT Fanconi anaemia
- Childhood solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma
- Familial breast cancer
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Brain cancer pertinent cancer susceptibility
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Skeletal dysplasia
- Sarcoma cancer susceptibility
- Embryonal tumour of possible germline origin
- Cytopenias and congenital anaemias
- COVID-19 research
- Familial rhabdomyosarcoma
- Breast cancer pertinent cancer susceptibility
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Sarcoma of possible germline origin
- GI tract tumours
- Sarcoma susceptibility
- Endocrine neoplasia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Multiple endocrine tumours
- Li Fraumeni Syndrome
- Childhood solid tumours
History Filter Activity
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)TP53 was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created
Ellen McDonagh (Genomics England Curator)TP53 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)TP53 was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)