Anaemias and red cell disorders
Gene: TP53EnsemblGeneIds (GRCh38): ENSG00000141510
EnsemblGeneIds (GRCh37): ENSG00000141510
OMIM: 191170, Gene2Phenotype
TP53 is in 24 panels
1 review
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Myelodysplastic syndrome (MDS), Paediatric
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Phenotypes
-
- Myelodysplastic syndrome (MDS), Paediatric
- OMIM
- 191170
- Clinvar variants
- Variants in TP53
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Inherited ovarian cancer (without breast cancer)
- Skeletal dysplasia
- Childhood solid tumours cancer susceptibility
- Li Fraumeni Syndrome
- Inherited phaeochromocytoma and paraganglioma
- Familial breast cancer
- Cytopenia - NOT Fanconi anaemia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Cytopenias and congenital anaemias
- Brain cancer pertinent cancer susceptibility
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Haematological malignancies cancer susceptibility
- COVID-19 research
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- GI tract tumours
- Breast cancer pertinent cancer susceptibility
- Sarcoma susceptibility
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Endocrine neoplasia
History Filter Activity
Approved Gene
Louise Daugherty (Genomics England Curator)This proposed gene was validated and added to this panel
Created
BRIDGE consortium (NIHRBR-RD)TP53 was created by BRIDGE
Added New Source
BRIDGE consortium (NIHRBR-RD)TP53 was added to Anaemias and red cell disorderspanel. Sources: BRIDGE consortium (NIHRBR-RD)