This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Noonan syndrome like disorder with or without juvenile myelomonocytic leukemia, 613563
- Noonan-Like Syndrome Disorder
- OMIM
- 165360
- Clinvar variants
- Variants in CBL
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Early onset or syndromic epilepsy
- DDG2P
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Cerebral vascular malformations
- Haematological malignancies for rare disease
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
History Filter Activity
23 May 2017, Gel status: 3
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for CBL were set to Noonan syndrome like disorder with or without juvenile myelomonocytic leukemia, 613563; Noonan-Like Syndrome Disorder
10 Dec 2015, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)CBL was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
10 Dec 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CBL was created by ellenmcdonagh