COVID-19 research
Gene: TP53
IUIS geneCreated: 7 May 2020, 2:08 p.m. | Last Modified: 7 May 2020, 2:08 p.m.
Panel Version: 0.203
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
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 deficiencyCreated: 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
Publications for gene: TP53 were set to 32086639; 32048120
Source OMIM was added to TP53.
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