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Paediatric or syndromic cardiomyopathy

Gene: CBL

Amber List (moderate evidence)

CBL (Cbl proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000110395
EnsemblGeneIds (GRCh37): ENSG00000110395
OMIM: 165360, Gene2Phenotype
CBL is in 19 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

Rebecca Whittington (South West GLH)

I don't know

?Juvenile myelomonocytic leukemia OMIM#607785; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia OMIM#613563
Created: 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

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)

Green List (high evidence)

Gain of function mutations
Created: 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 Amber
  • NHS GMS
  • Expert List
  • South West GLH
  • London South GLH
Phenotypes
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
OMIM
165360
Clinvar variants
Variants in CBL
Penetrance
None
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

History Filter Activity

8 Mar 2022, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to CBL. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CBL.

4 Sep 2019, Gel status: 3

Added New Source, Set mode of pathogenicity, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

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

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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