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STRs in panel
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COVID-19 research

Gene: TP53

Green List (high evidence)

TP53 (tumor protein p53)
EnsemblGeneIds (GRCh38): ENSG00000141510
EnsemblGeneIds (GRCh37): ENSG00000141510
OMIM: 191170, Gene2Phenotype
TP53 is in 22 panels

3 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

IUIS gene
Created: 7 May 2020, 2:08 p.m. | Last Modified: 7 May 2020, 2:08 p.m.
Panel Version: 0.203

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Two unrelated cases of Bone marrow failure syndrome 5, 618165 were reported with different single base deletions that resulted in the same peptide terminating variant p.S362Afs8*(PMID 30146126).
Created: 29 Apr 2020, 4:33 p.m. | Last Modified: 29 Apr 2020, 4:33 p.m.
Panel Version: 0.167

Ivone Leong (Genomics England Curator)

Green List (high evidence)

IUIS: categorised under bone marrow failure with immune deficiency section, bone marrow failure syndrome 5. Inheritance AD. Low B cells. Associated features: Erythroid hypoplasia, B cell deficiency
Created: 15 Apr 2020, 12:09 p.m. | Last Modified: 15 Apr 2020, 12:09 p.m.
Panel Version: 0.103

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

Phenotypes
Bone marrow failure syndrome 5, 618165

Publications

History Filter Activity

29 Apr 2020, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TP53 were set to 32086639; 32048120

21 Apr 2020, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

Source OMIM was added to TP53.

15 Apr 2020, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: TP53 was added gene: TP53 was added to Viral susceptibility. Sources: Expert Review Green,IUIS Classification December 2019 Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TP53 were set to 32086639; 32048120 Phenotypes for gene: TP53 were set to Bone marrow failure syndrome 5, 618165