Endocrine neoplasia
Gene: TP53EnsemblGeneIds (GRCh38): ENSG00000141510
EnsemblGeneIds (GRCh37): ENSG00000141510
OMIM: 191170, Gene2Phenotype
TP53 is in 24 panels
1 review
Ivone Leong (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.Created: 3 Mar 2022, 1:36 p.m. | Last Modified: 3 Mar 2022, 1:37 p.m.
Panel Version: 1.25
This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.
This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.
This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert ReviewCreated: 28 Jan 2021, 10:28 a.m. | Last Modified: 16 Feb 2021, 10:14 a.m.
Panel Version: 1.14
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Endocrine Cancer; Paragangliomas 1, with or without deafness, 168000; Pheochromocytoma, 171300; Carcinoid tumors, intestinal, 114900; Merkel cell carcinoma, somatic; Paraganglioma and gastric stromal sarcoma, 606864; Cowden syndrome 3, 615106
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Expert Review
- Phenotypes
-
- Endocrine Cancer
- Paragangliomas 1, with or without deafness, 168000
- Pheochromocytoma, 171300
- Carcinoid tumors, intestinal, 114900
- Merkel cell carcinoma, somatic
- Paraganglioma and gastric stromal sarcoma, 606864
- Cowden syndrome 3, 615106
- OMIM
- 191170
- Clinvar variants
- Variants in TP53
- Penetrance
- None
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Li Fraumeni Syndrome
- Inherited phaeochromocytoma and paraganglioma
- Haematological malignancies cancer susceptibility
- Familial breast cancer
- Cytopenia - NOT Fanconi anaemia
- Brain cancer pertinent cancer susceptibility
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- COVID-19 research
- Familial rhabdomyosarcoma
- Childhood solid tumours
- Breast cancer pertinent cancer susceptibility
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Skeletal dysplasia
- Inherited predisposition to acute myeloid leukaemia (AML)
- GI tract tumours
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: TP53.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: tp53 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TP53 was added gene: TP53 was added to Endocrine neoplasms. Sources: Expert Review for-review tags were added to gene: TP53. Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TP53 were set to Endocrine Cancer; Paragangliomas 1, with or without deafness, 168000; Pheochromocytoma, 171300; Carcinoid tumors, intestinal, 114900; Merkel cell carcinoma, somatic; Paraganglioma and gastric stromal sarcoma, 606864; Cowden syndrome 3, 615106 Review for gene: TP53 was set to AMBER