Bone Marrow Failure
Gene: TP53EnsemblGeneIds (GRCh38): ENSG00000141510
EnsemblGeneIds (GRCh37): ENSG00000141510
OMIM: 191170, Gene2Phenotype
TP53 is in 18 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two unrelated individuals with de novo variants in this gene, both resulted in the same truncation of the protein with a loss of 32 residues from the C-terminal end (Ser362AlafsTer8). The deletion is postulated to compromise binding of negative transcriptional regulators, resulting in augmented p53 function, not loss of function. Mouse models with animals lacking the C-terminal end of Tp53 show similar abnormalities.
Sources: Expert listCreated: 6 Apr 2020, 2:42 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Bone marrow failure syndrome 5, MIM# 618165
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Bone marrow failure syndrome 5, MIM# 618165
- OMIM
- 191170
- Clinvar variants
- Variants in TP53
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Additional findings_Adult
- Prostate Cancer
- Breast Cancer
- Ovarian Cancer
- Incidentalome_PREGEN_DRAFT
- Pancreatic Cancer
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Sarcoma soft tissue
- Transplant Co-Morbidity Superpanel
- Colorectal Cancer and Polyposis
- Cancer Predisposition_Paediatric
- Medulloblastoma
- Endometrial Cancer
- Incidentalome
- Additional findings_Paediatric
- Wilms Tumour
- Sarcoma non-soft tissue
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tp53 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tp53 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TP53 was added gene: TP53 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TP53 were set to 30146126; 24013501; 23770245 Phenotypes for gene: TP53 were set to Bone marrow failure syndrome 5, MIM# 618165 Mode of pathogenicity for gene: TP53 was set to Other Review for gene: TP53 was set to AMBER