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Growth failure in early childhood

Gene: CBL

Green List (high evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that genes associated with RASopathies should be included on this panel, excluding NF1. Therefore kept on the panel as a Green gene.
Created: 30 May 2019, 9:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
  • NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA
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

18 Jun 2019, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CBL were set to

30 May 2019, Gel status: 4

Set mode of pathogenicity, Set Phenotypes

Rebecca Foulger (Genomics England curator)

Mode of pathogenicity for gene CBL was changed from Other - please provide details in the comments 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 for gene: CBL

14 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CBL was added gene: CBL was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CBL were set to NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA Mode of pathogenicity for gene: CBL was set to Other - please provide details in the comments