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Cytopenias and congenital anaemias

Gene: TP53

Red List (low 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)

Red List (low evidence)

LFS is associated with a wide variety of tumours. This includes leukaemia, however this would be expected to cause bone marrow infiltrate and be out of keeping with the inclusion criteria. TP53 mutations are implicated in tumorigenesis / mutagenesis somatically, however this is out of keeping with the scope of this panel.
Created: 9 Mar 2017, 4:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Li Fraumeni syndrome 151623

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Myelodysplastic syndrome (MDS), Paediatric

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 1

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

TP53 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red Model of inheritance for gene TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

TP53 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

TP53 was created by LouiseD