RASopathies
Gene: CBLComment 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.
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
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
Publications for gene: CBL were set to PMID: 20619386; 20543203; 19571318
Phenotypes for CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
This gene has been classified as Green List (High Evidence).
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
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
Publications for CBL were set to PMID: 20619386; 20543203; 19571318
Mode of inheritance for CBL was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
CBL was added to RASopathiespanel. Sources: Radboud University Medical Center, Nijmegen
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
CBL was added to RASopathiespanel. Sources: Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services,UKGTN
CBLAll sources for gene: CBL were removed
CBL was added to RASopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Eligibility statement prior genetic testing
CBL was added to RASopathiespanel. Source: Radboud University Medical Center, Nijmegen
CBL was added to RASopathiespanel. Source: UKGTN
CBL was added to RASopathiespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Eligibility statement prior genetic testing
CBL was created by ellenmcdonagh