1. Genes and Genomic Entities
  2. TP53

TP53

tumor protein p53
OMIM: 191170, Gene2Phenotype

24 panels

Panel Reviews Mode of inheritance Details
24 panels
Green TP53 in Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.28

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Colorectal cancer, 114500
  • Li-Fraumeni syndrome, 151623
  • Hepatocellular carcinoma, 114550
  • Osteosarcoma, 259500
  • Choroid plexus papilloma, 260500
  • Nasopharyngeal carcinoma, 607107
  • Pancreatic cancer, 260350
  • Adrenal cortical carcinoma, 202300
  • Breast cancer, 114480
  • {Basal cell carcinoma 7}, 614740
  • {Glioma susceptibility 1}, 137800
  • High Risk Breast Cancer
  • Breast and Ovarian Cancer
Green TP53 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.19

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: Familial cancer syndrome
  • Li-Fraumeni syndrome
  • ALL, AML, MDS
  • Adrenal, breast, brain, and lung sarcoma, gastrointestinal cancers, Breast cancer, osteosarcoma, soft tissue sarcomas, brain tumors, adrenocortical carcinoma
Green TP53 in Brain cancer pertinent cancer susceptibility


Level 2: Cancer susceptibility
Version 1.5
Latest signed off version: v1.0 (29 Sep 2021)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Adult Glioma
Green TP53 in Breast cancer pertinent cancer susceptibility


Level 2: Cancer susceptibility
Version 2.16
Latest signed off version: v2.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Breast cancer
Green TP53 in Familial Tumours Syndromes of the central & peripheral Nervous system

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.15

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Brain, CNS, and PNS Cancer
Green TP53 in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.42

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Li Fraumeni Syndrome
Green TP53 in COVID-19 research


Level 2: Viral research
Version 1.146

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • OMIM
  • IUIS Classification December 2019
  • Expert Review Green
Phenotypes
  • Bone marrow failure syndrome 5, 618165
Green TP53 in Familial rhabdomyosarcoma

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.6

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
Phenotypes
  • Li-Fraumeni syndrome, 151623
Red TP53 in Inherited ovarian cancer (without breast cancer)


Level 2: Inherited cancer
Version 4.9
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Colorectal cancer, 114500
  • Li-Fraumeni syndrome, 151623
  • Hepatocellular carcinoma, 114550
  • Osteosarcoma, 259500
  • Choroid plexus papilloma, 260500
  • Nasopharyngeal carcinoma, 607107
  • Pancreatic cancer, 260350
  • Adrenal cortical carcinoma, 202300
  • Breast cancer, 114480
  • {Basal cell carcinoma 7}, 614740
  • {Glioma susceptibility 1}, 137800
  • High Risk Breast Cancer
  • Breast and Ovarian Cancer
Red TP53 in GI tract tumours

Level 3: GI tract
Level 2: Tumour syndromes
Version 1.27

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Gastrointestinal and Colorectal Cancer
  • High Risk Colorectal Cancer
Green TP53 in Childhood solid tumours


Level 2: Cancer susceptibility
Version 5.9
Latest signed off version: v5.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Adrenocortical carcinoma
  • Li Fraumeni Syndrome
Green TP53 in Multiple endocrine tumours

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.15

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
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
Red TP53 in Inherited phaeochromocytoma and paraganglioma

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.12

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Amber TP53 in Endocrine neoplasia


Level 2: Endocrinology
Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

review 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
Green TP53 in Inherited predisposition to acute myeloid leukaemia (AML)


Level 2: Haematology
Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • North West GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Li-Fraumeni syndrome, OMIM:151623
  • Li-Fraumeni syndrome 1, MONDO:0007903
Red TP53 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.123

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
Green TP53 in Sarcoma cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.26

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Sarcoma
Green TP53 in Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.30

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Li Fraumeni Syndrome
Green TP53 in Adult solid tumours cancer susceptibility


Level 2: Cancer susceptibility
Version 2.35
Latest signed off version: v2.2 (18 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Li Fraumeni Syndrome
Green TP53 in Haematological malignancies cancer susceptibility


Level 2: Cancer susceptibility
Version 4.37
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: Familial cancer syndrome
  • Li-Fraumeni syndrome
  • ALL, AML, MDS
  • Adrenal, breast, brain, and lung sarcoma, gastrointestinal cancers, Breast cancer, osteosarcoma, soft tissue sarcomas, brain tumors, adrenocortical carcinoma
Red TP53 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review Other
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Central conventional chondrosrcoma
    Tags
    • somatic
    Red TP53 in Cytopenia - NOT Fanconi anaemia


    Level 2: Haematology
    Version 4.32
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • 618165 Bone marrow failure syndrome 5
    Green TP53 in Sarcoma susceptibility


    Level 2: Cancer susceptibility
    Version 1.82
    Latest signed off version: v1.2 (18 Feb 2020)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Li-Fraumeni syndrome, OMIM:151623
    • Solitary Fibrous Tumour
    • Sarcoma, MONDO:0005089
    Green TP53 in Li Fraumeni Syndrome


    Level 2: Inherited cancer
    Version 1.6
    Latest signed off version: v1.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Li-Fraumeni syndrome, OMIM:151623
    • Li-Fraumeni syndrome, MONDO:0018875