Sarcoma of possible germline origin
Gene: CBLEnsemblGeneIds (GRCh38): ENSG00000110395
EnsemblGeneIds (GRCh37): ENSG00000110395
OMIM: 165360, Gene2Phenotype
CBL is in 20 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
CBL has been added to the panel for the clinical indication 'R457 Sarcoma of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 26 Jan 2026, 6:28 p.m. | Last Modified: 26 Jan 2026, 6:28 p.m.
Panel Version: 0.4
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #607785 & #613563) and the OMIM records were last accessed on 30 December 2025.Created: 30 Dec 2025, 2:24 p.m. | Last Modified: 30 Dec 2025, 2:24 p.m.
Panel Version: 0.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563; CBL-related disorder, MONDO:0013308; ?Juvenile myelomonocytic leukemia, OMIM:607785
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563
- CBL-related disorder, MONDO:0013308
- ?Juvenile myelomonocytic leukemia, OMIM:607785
- OMIM
- 165360
- Clinvar variants
- Variants in CBL
- Penetrance
- None
- 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
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: CBL was added gene: CBL was added to Sarcoma of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563; CBL-related disorder, MONDO:0013308; ?Juvenile myelomonocytic leukemia, OMIM:607785