Inherited phaeochromocytoma and paraganglioma
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
2 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Treena Cranston (Oxford)
low evidence of germline mutations being causative of PCC/PGLCreated: 13 Oct 2015, 8:48 a.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- OMIM
- 191170
- Clinvar variants
- Variants in TP53
- Penetrance
- Complete
- 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
20 Apr 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
17 Aug 2015, Gel status: 1
Set Phenotypes
Eik Haraldsdottir (Genomics England)Phenotypes for gene TP53 were set to test
28 Apr 2015, Gel status: 1
Added New Source
GEL ()TP53 was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Emory Genetics Laboratory