Sarcoma of possible germline origin
Gene: TP53EnsemblGeneIds (GRCh38): ENSG00000141510
EnsemblGeneIds (GRCh37): ENSG00000141510
OMIM: 191170, Gene2Phenotype
TP53 is in 26 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
TP53 has been added to the panel for the clinical indication 'R457 Sarcoma of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 26 Jan 2026, 6:28 p.m. | Last Modified: 26 Jan 2026, 6:28 p.m.
Panel Version: 0.4
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #114500, #137800, #151623, #202300, #260500 & #614740) and the OMIM records were last accessed on 30 December 2025.Created: 30 Dec 2025, 2:24 p.m. | Last Modified: 30 Dec 2025, 2:24 p.m.
Panel Version: 0.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Colorectal cancer}, OMIM:114500; basal cell carcinoma, susceptibility to, 7, MONDO:0013876; adrenocortical carcinoma, hereditary, MONDO:0008734; {Glioma susceptibility 1}, OMIM:137800; nasopharyngeal carcinoma, susceptibility to, 1, MONDO:0011775; Li-Fraumeni syndrome, OMIM:151623; Li-Fraumeni syndrome, MONDO:0018875; {Basal cell carcinoma 7}, OMIM:614740; choroid plexus papilloma, MONDO:0009837; {Adrenocortical carcinoma, pediatric}, OMIM:202300; {Choroid plexus papilloma}, OMIM:260500
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- {Colorectal cancer}, OMIM:114500
- basal cell carcinoma, susceptibility to, 7, MONDO:0013876
- adrenocortical carcinoma, hereditary, MONDO:0008734
- {Glioma susceptibility 1}, OMIM:137800
- nasopharyngeal carcinoma, susceptibility to, 1, MONDO:0011775
- Li-Fraumeni syndrome, OMIM:151623
- Li-Fraumeni syndrome, MONDO:0018875
- {Basal cell carcinoma 7}, OMIM:614740
- choroid plexus papilloma, MONDO:0009837
- {Adrenocortical carcinoma, pediatric}, OMIM:202300
- {Choroid plexus papilloma}, OMIM:260500
- OMIM
- 191170
- Clinvar variants
- Variants in TP53
- Penetrance
- None
- Panels with this gene
-
- Inherited ovarian cancer (without breast cancer)
- Sarcoma of possible germline origin
- Childhood solid tumours cancer susceptibility
- Li Fraumeni Syndrome
- Inherited phaeochromocytoma and paraganglioma
- Haematological malignancies cancer susceptibility
- Familial breast cancer
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Brain cancer pertinent cancer susceptibility
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Skeletal dysplasia
- COVID-19 research
- Familial rhabdomyosarcoma
- Breast cancer pertinent cancer susceptibility
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Inherited predisposition to acute myeloid leukaemia (AML)
- GI tract tumours
- Sarcoma susceptibility
- Embryonal tumour of possible germline origin
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Endocrine neoplasia
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: TP53 was added gene: TP53 was added to Sarcoma of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TP53 were set to {Colorectal cancer}, OMIM:114500; basal cell carcinoma, susceptibility to, 7, MONDO:0013876; adrenocortical carcinoma, hereditary, MONDO:0008734; {Glioma susceptibility 1}, OMIM:137800; nasopharyngeal carcinoma, susceptibility to, 1, MONDO:0011775; Li-Fraumeni syndrome, OMIM:151623; Li-Fraumeni syndrome, MONDO:0018875; {Basal cell carcinoma 7}, OMIM:614740; choroid plexus papilloma, MONDO:0009837; {Adrenocortical carcinoma, pediatric}, OMIM:202300; {Choroid plexus papilloma}, OMIM:260500