Undiagnosed neurocutaneous disorders
Gene: CBL

CBL (Cbl proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000110395
EnsemblGeneIds (GRCh37): ENSG00000110395
OMIM: 165360, Gene2Phenotype
CBL is in 20 panels

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Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Radboud University Medical Center, Nijmegen
UKGTN
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Noonan syndrome like disorder with or without juvenile myelomonocytic leukemia, 613563
Noonan-Like Syndrome Disorder

OMIM

165360

Clinvar variants

Variants in CBL

Penetrance

Complete

Panels with this gene

History Filter Activity

23 May 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for CBL were set to Noonan syndrome like disorder with or without juvenile myelomonocytic leukemia, 613563; Noonan-Like Syndrome Disorder

10 Dec 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CBL was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

10 Dec 2015, Gel status: 0

Created