Paediatric or syndromic cardiomyopathy
Gene: CBL
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 11:32 a.m. | Last Modified: 8 Mar 2022, 11:32 a.m.
Panel Version: 1.67
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
?Juvenile myelomonocytic leukemia OMIM#607785; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia OMIM#613563Created: 25 Mar 2019, 4:30 p.m.
Rasopathy gene - noonan's like features with or without leukaemia. More CHD features rather than cardiomyopathy - see OMIM clinical synopsis:https://omim.org/clinicalSynopsis/613563. HGMD: Noonan and Leukemia are the main DM enteries with one HCM entry.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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.
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
Source Expert Review Amber was added to CBL. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source NHS GMS was added to CBL.
Source Expert List was added to CBL. Mode of pathogenicity for gene CBL was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 for gene: CBL Publications for gene CBL were changed from 20543203; 19571318; PMID: 20619386 to 20543203; 19571318; 20619386
gene: CBL was added gene: CBL was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CBL were set to 20543203; 19571318; PMID: 20619386 Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia