This Panel is marked as Retired
Multiple Tumours
Gene: CBL
CBL (Cbl proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000110395
EnsemblGeneIds (GRCh37): ENSG00000110395
OMIM: 165360, Gene2Phenotype
CBL is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000110395
EnsemblGeneIds (GRCh37): ENSG00000110395
OMIM: 165360, Gene2Phenotype
CBL is in 20 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
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Cytopenias and congenital anaemias
- Cerebral vascular malformations
- Paediatric or syndromic cardiomyopathy
- Pigmentary skin disorders
- Fetal hydrops
- Haematological malignancies for rare disease
- Embryonal tumour of possible germline origin
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Childhood solid tumours
- Sarcoma of possible germline origin
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
History Filter Activity
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CBL was created by ellenmcdonagh
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)CBL was added to Multiple Tumourspanel. Sources: Expert Review Green