Multiple Tumours
Gene: CBLEnsemblGeneIds (GRCh38): ENSG00000110395
EnsemblGeneIds (GRCh37): ENSG00000110395
OMIM: 165360, Gene2Phenotype
CBL is in 20 panels
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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
-
- Paediatric or syndromic cardiomyopathy
- Childhood solid tumours cancer susceptibility
- Embryonal tumour of possible germline origin
- Primary lymphoedema
- Adult solid tumours cancer susceptibility
- Monogenic short stature
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- Fetal hydrops
- Haematological malignancies for rare disease
- Intellectual disability
- Sarcoma of possible germline origin
- DDG2P
- RASopathies
- IUGR and IGF abnormalities
- Childhood solid tumours
- Pigmentary skin disorders
- Fetal anomalies
- Cerebral vascular malformations
- Early onset or syndromic epilepsy
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