Childhood solid tumours
Gene: TP53EnsemblGeneIds (GRCh38): ENSG00000141510
EnsemblGeneIds (GRCh37): ENSG00000141510
OMIM: 191170, Gene2Phenotype
TP53 is in 26 panels
3 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Lara Hawkes (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Li Fraumeni Syndrome
Ellen Thomas (Genomics England Curator)
Comment on list classification: Causes familial childhood malignancy in LFS.Created: 14 Feb 2016, 7:01 p.m.
Details
- Mode of Inheritance
- 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
- OMIM
- 191170
- Clinvar variants
- Variants in TP53
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Skeletal dysplasia
- Li Fraumeni Syndrome
- Inherited phaeochromocytoma and paraganglioma
- Familial breast cancer
- Cytopenia - NOT Fanconi anaemia
- Haematological malignancies cancer susceptibility
- Brain cancer pertinent cancer susceptibility
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- COVID-19 research
- Inherited ovarian cancer (without breast cancer)
- Inherited predisposition to acute myeloid leukaemia (AML)
- Familial rhabdomyosarcoma
- Breast cancer pertinent cancer susceptibility
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Embryonal tumour of possible germline origin
- GI tract tumours
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Multiple endocrine tumours
- Childhood solid tumours
- Sarcoma of possible germline origin
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to TP53. Mode of inheritance for gene TP53 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Li Fraumeni Syndrome for gene: TP53 Publications for gene TP53 were changed from to 23788249
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to TP53. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for TP53 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)TP53 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Eligibility statement prior genetic testing