This Panel is marked as Internal
Paediatric or syndromic cardiomyopathy - previous panel
Gene: CBL
CBL (Cbl proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000110395
EnsemblGeneIds (GRCh37): ENSG00000110395
OMIM: 165360, Gene2Phenotype
CBL is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000110395
EnsemblGeneIds (GRCh37): ENSG00000110395
OMIM: 165360, Gene2Phenotype
CBL is in 18 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- OMIM
- 165360
- Clinvar variants
- Variants in CBL
- Penetrance
- None
- Panels with this gene
-
- Haematological malignancies cancer susceptibility
- Primary lymphoedema
- Cytopenias and congenital anaemias
- Monogenic short stature
- Fetal hydrops
- Cerebral vascular malformations
- Childhood solid tumours
- Haematological malignancies for rare disease
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Early onset or syndromic epilepsy
- Fetal anomalies
- DDG2P
- Childhood solid tumours cancer susceptibility
History Filter Activity
21 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: CBL was added gene: CBL was added to Paediatric or syndromic cardiomyopathy. Sources: South West GLH Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted