Childhood solid tumours cancer susceptibility
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
1 review
Clare Turnbull (Queen Mary University London)
Rasopathy.Created: 5 Jul 2017, 11:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome; CBL associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Noonan syndrome
- CBL associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies
- OMIM
- 165360
- Clinvar variants
- Variants in CBL
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Haematological malignancies cancer susceptibility
- Primary lymphoedema
- Cytopenias and congenital anaemias
- Monogenic short stature
- Fetal hydrops
- Cerebral vascular malformations
- Early onset or syndromic epilepsy
- 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
- Fetal anomalies
- DDG2P
- Childhood solid tumours cancer susceptibility
History Filter Activity
7 Sep 2018, Gel status: 3
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Rasopathy.
5 Jul 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)CBL was added to Childhood solid tumourspanel. Source: Expert Review Green
5 Jul 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)CBL was added to Childhood solid tumourspanel. Sources: Expert list
5 Jul 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CBL was created by ellenmcdonagh