Childhood solid tumours
Gene: CBLEnsemblGeneIds (GRCh38): ENSG00000110395
EnsemblGeneIds (GRCh37): ENSG00000110395
OMIM: 165360, Gene2Phenotype
CBL is in 20 panels
4 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that RASopathy associated genes associated with cancer will be included in this panel and that there is enough evidence to rate this gene green.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Predisposition to cancer.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Publications
Lara Hawkes (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome, CBL associated Juvenile Myelomonocytic Leukemia and Developmental Anomalie
Richard Scott (Genomics England Curator)
Comment on list classification: Associated with JMML and Noonan-like disorderCreated: 7 Mar 2016, 11:40 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert List
- Expert Review Green
- Phenotypes
-
- 613563
- Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
- OMIM
- 165360
- Clinvar variants
- Variants in CBL
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Cerebral vascular malformations
- Haematological malignancies for rare disease
- Paediatric or syndromic cardiomyopathy
- Embryonal tumour of possible germline origin
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Primary lymphoedema
- Sarcoma of possible germline origin
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to CBL. Mode of inheritance for gene CBL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 for gene: CBL Publications for gene CBL were changed from 20619386 to 23875798
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to CBL. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Richard Scott (North Thames GMC/UCL)CBL was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Expert list
Created
Richard Scott (North Thames GMC/UCL)CBL was created by Reviewer_03