RASopathies
Gene: CBLEnsemblGeneIds (GRCh38): ENSG00000110395
EnsemblGeneIds (GRCh37): ENSG00000110395
OMIM: 165360, Gene2Phenotype
CBL is in 18 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of pathogenicity: Activating mutations are reported in G2P. Comments from Reviewer: Not reported to be associated with Legius syndrome. - Helen Savage (Congenica Ltd), Jan. 22, 2016, 12:07 p.m. Multiple reports of loss of function mutations in unrelated individuals with a Noonan Syndrome-like disorder, with or without JMML. Helen Savage (Congenica Ltd), Jan. 21, 2016, 10:44 a.m.Created: 5 Feb 2016, 12:07 p.m.
Comment when marking as ready: Confirmed DD gene, and part of the eligibility statement genes for rasopathies.Created: 4 Feb 2016, 3:43 p.m.
Helen Savage (Congenica Ltd)
Gain of function mutationsCreated: 1 Feb 2016, 10:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Eligibility statement prior genetic testing
- UKGTN
- Phenotypes
-
- Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
- OMIM
- 165360
- Clinvar variants
- Variants in CBL
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
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- 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
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CBL were changed from Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: CBL were set to PMID: 20619386; 20543203; 19571318
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CBL were set to Noonan syndrome like disorder with or without juvenile myelomonocytic leukemia ; Noonan-Like Syndrome Disorder ; Noonan-Like Syndrome Disorder; Noonan Spectrum Disorders; Noonan Spectrum Disorders; Noonan syndrome; Noonan syndrome plus other features; Legius syndrome; Costello syndrome; Cardio-facio-cutaneous syndrome; LEOPARD syndrome
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for CBL was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CBL were set to PMID: 20619386; 20543203; 19571318
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CBL was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene CBL were set to Noonan syndrome like disorder with or without juvenile myelomonocytic leukemia,;Noonan-Like Syndrome Disorder ;Noonan-Like Syndrome Disorder; Noonan Spectrum Disorders;Noonan Spectrum Disorders;Noonan syndrome;Noonan syndrome plus other features;Legius syndrome;Costello syndrome;Cardio-facio-cutaneous syndrome;LEOPARD syndrome
Upload gene information
Ellen McDonagh (Genomics England Curator)CBL was added to RASopathiespanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene CBL were set to Noonan syndrome like disorder with or without juvenile myelomonocytic leukemia,;Noonan-Like Syndrome Disorder ;Noonan-Like Syndrome Disorder; Noonan Spectrum Disorders;Noonan Spectrum Disorders;Noonan syndrome;Noonan syndrome plus other features;Legius syndrome;Costello syndrome;Cardio-facio-cutaneous syndrome;LEOPARD syndrome
Upload gene information
Ellen McDonagh (Genomics England Curator)CBL was added to RASopathiespanel. Sources: Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services,UKGTN
clearsources
Ellen McDonagh (Genomics England Curator)CBLAll sources for gene: CBL were removed
Upload gene information
Ellen McDonagh (Genomics England Curator)CBL was added to RASopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)CBL was added to RASopathiespanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)CBL was added to RASopathiespanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)CBL was added to RASopathiespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)CBL was created by ellenmcdonagh