Familial rhabdomyosarcoma

Gene: TP53

Green List (high evidence)

TP53 (tumor protein p53)
EnsemblGeneIds (GRCh38): ENSG00000141510
EnsemblGeneIds (GRCh37): ENSG00000141510
OMIM: 191170, Gene2Phenotype
TP53 is in 23 panels

2 reviews

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 Thomas (Genomics England Curator)

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

History Filter Activity

21 Dec 2017, Gel status: 3

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.

21 Dec 2017, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TP53 were set to Li-Fraumeni syndrome, 151623

21 Dec 2017, Gel status: 3

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

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for TP53 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TP53 was added to Familial rhabdomyosarcoma panel. Sources: Eligibility statement prior genetic testing

28 Jul 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

TP53 was added to Familial rhabdomyosarcoma panel. Sources: Expert list