Familial rhabdomyosarcoma
Gene: TP53EnsemblGeneIds (GRCh38): ENSG00000141510
EnsemblGeneIds (GRCh37): ENSG00000141510
OMIM: 191170, Gene2Phenotype
TP53 is in 24 panels
2 reviews
Helen Brittain (Genomics England Curator)
Causation is clear. Rhabdomyosarcoma commonly associated. Reviewed with Clare Turnbull and Gareth Evans for consensus.Created: 21 Dec 2017, 10:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Li-Fraumeni syndrome, 151623
Ellen Thomas (Genomics England Curator)
Comment on list classification: Key gene in this phenotype.Created: 10 May 2016, 9:39 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert list
- Phenotypes
-
- Li-Fraumeni syndrome, 151623
- 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
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)21st December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Helen Brittain.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for TP53 were set to Li-Fraumeni syndrome, 151623
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for TP53 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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 Familial rhabdomyosarcoma panel. Sources: Eligibility statement prior genetic testing
Added New Source
Eik Haraldsdottir (Genomics England)TP53 was added to Familial rhabdomyosarcoma panel. Sources: Expert list