This Panel is marked as Retired
Epilepsy Plus
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
- Sources
-
- Expert Review Red
- Expert Review
- OMIM
- 165360
- Clinvar variants
- Variants in CBL
- Penetrance
- Complete
- Publications
-
- Martin et al (2014) Hum Mol Genet 23(12).3200-3211
- Panels with this gene
-
- Haematological malignancies cancer susceptibility
- DDG2P
- Cytopenias and congenital anaemias
- Cerebral vascular malformations
- Monogenic short stature
- Fetal anomalies
- Fetal hydrops
- Early onset or syndromic epilepsy
- Haematological malignancies for rare disease
- Embryonal tumour of possible germline origin
- Paediatric or syndromic cardiomyopathy
- Adult solid tumours cancer susceptibility
- RASopathies
- Pigmentary skin disorders
- IUGR and IGF abnormalities
- Childhood solid tumours
- Sarcoma of possible germline origin
- Intellectual disability
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
History Filter Activity
8 Sep 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CBL was added to Epilepsy Pluspanel. Sources: Expert Review,Expert Review Red
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CBL was created by ellenmcdonagh