Sarcoma susceptibility

Gene: TP53

Green List (high evidence)

TP53 (tumor protein p53)
EnsemblGeneIds (GRCh38): ENSG00000141510
EnsemblGeneIds (GRCh37): ENSG00000141510
OMIM: 191170, Gene2Phenotype
TP53 is in 21 panels

5 reviews

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: agreed that there is enough evidence to rate this gene green.
Created: 23 Jul 2019, 3:16 p.m. | Last Modified: 23 Jul 2019, 3:16 p.m.
Panel Version: 0.2

Phenotypes
Li-Fraumeni

Publications

Helen Brittain (Genomics England Curator)

Green List (high evidence)

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 McDonagh (Genomics England Curator)

Comment on list classification: Details checked against the Gene List for Reporting Germline Findings in Cancer Patients Version 1.5 document, for renal tumour type.
Created: 26 Jul 2017, 12:16 p.m.

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Adult Glioma; Breast; Sarcoma

Ellen Thomas (Genomics England Curator)

Comment on list classification: Key gene in this phenotype.
Created: 10 May 2016, 9:39 a.m.

History Filter Activity

23 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: TP53 was added gene: TP53 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TP53 were set to 27050224; 28338660 Phenotypes for gene: TP53 were set to Sarcoma; Li-Fraumeni syndrome, 151623