Adult solid tumours for rare disease
Gene: TP53
TP53 (tumor protein p53)
EnsemblGeneIds (GRCh38): ENSG00000141510
EnsemblGeneIds (GRCh37): ENSG00000141510
OMIM: 191170, Gene2Phenotype
TP53 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000141510
EnsemblGeneIds (GRCh37): ENSG00000141510
OMIM: 191170, Gene2Phenotype
TP53 is in 24 panels
1 review
Clare Turnbull (Queen Mary University London)
Tumor Suppressor.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Li Fraumeni Syndrome
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Li Fraumeni Syndrome
- OMIM
- 191170
- Clinvar variants
- Variants in TP53
- Penetrance
- None
- Panels with this gene
-
- Inherited ovarian cancer (without breast cancer)
- Skeletal dysplasia
- Childhood solid tumours cancer susceptibility
- Li Fraumeni Syndrome
- Inherited phaeochromocytoma and paraganglioma
- Familial breast cancer
- Cytopenia - NOT Fanconi anaemia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Cytopenias and congenital anaemias
- Brain cancer pertinent cancer susceptibility
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Haematological malignancies cancer susceptibility
- COVID-19 research
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- GI tract tumours
- Breast cancer pertinent cancer susceptibility
- Sarcoma susceptibility
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Endocrine neoplasia
History Filter Activity
5 Mar 2018, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)5th March 2018 - promoted to version 1 after expert review and internal clinical review.
19 Dec 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)TP53 was added to Adult solid tumours for rare disease panel. Sources: Expert Review Green,Expert list
19 Dec 2017, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)TP53 was created by Ellen McDonagh