Multiple Tumours
Gene: CBLEnsemblGeneIds (GRCh38): ENSG00000110395
EnsemblGeneIds (GRCh37): ENSG00000110395
OMIM: 165360, Gene2Phenotype
CBL is in 18 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- OMIM
- 165360
- Clinvar variants
- Variants in CBL
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- Primary lymphoedema
- Intellectual disability
- Monogenic short stature
- Fetal hydrops
- Cerebral vascular malformations
- Childhood solid tumours
- Haematological malignancies for rare disease
- Paediatric or syndromic cardiomyopathy
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- DDG2P
- Early onset or syndromic epilepsy
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
History Filter Activity
Created
Ellen McDonagh (Genomics England Curator)CBL was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CBL was added to Multiple Tumourspanel. Sources: Expert Review Green