COVID-19 research
Gene: TP53EnsemblGeneIds (GRCh38): ENSG00000141510
EnsemblGeneIds (GRCh37): ENSG00000141510
OMIM: 191170, Gene2Phenotype
TP53 is in 26 panels
3 reviews
Sophie Hambleton (Newcastle University)
IUIS geneCreated: 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)
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)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- OMIM
- IUIS Classification December 2019
- Expert Review Green
- Phenotypes
-
- Bone marrow failure syndrome 5, 618165
- OMIM
- 191170
- Clinvar variants
- Variants in TP53
- Penetrance
- None
- Publications
- Panels with this gene
-
- Inherited ovarian cancer (without breast cancer)
- Sarcoma of possible germline origin
- Childhood solid tumours cancer susceptibility
- Li Fraumeni Syndrome
- Inherited phaeochromocytoma and paraganglioma
- Haematological malignancies cancer susceptibility
- Familial breast cancer
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Brain cancer pertinent cancer susceptibility
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Skeletal dysplasia
- COVID-19 research
- Familial rhabdomyosarcoma
- Breast cancer pertinent cancer susceptibility
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Inherited predisposition to acute myeloid leukaemia (AML)
- GI tract tumours
- Sarcoma susceptibility
- Embryonal tumour of possible germline origin
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Endocrine neoplasia
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: TP53 were set to 32086639; 32048120
Added New Source
Sarah Leigh (Genomics England Curator)Source OMIM was added to TP53.
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