IUGR and IGF abnormalities
Gene: CBL
CBL (Cbl proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000110395
EnsemblGeneIds (GRCh37): ENSG00000110395
OMIM: 165360, Gene2Phenotype
CBL is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000110395
EnsemblGeneIds (GRCh37): ENSG00000110395
OMIM: 165360, Gene2Phenotype
CBL is in 18 panels
1 review
emma baple (Genomics England Curator)
Comment on mode of pathogenicity: Gain of functionCreated: 10 May 2016, 10:46 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA
- OMIM
- 165360
- Clinvar variants
- Variants in CBL
- Penetrance
- Complete
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Haematological malignancies cancer susceptibility
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Cerebral vascular malformations
- Haematological malignancies for rare disease
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
History Filter Activity
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 4
Set mode of pathogenicity
emma baple (Genomics England Curator)Mode of pathogenicity for CBL was changed to Other - please provide details in the comments
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 0
Added New Source
emma baple (Genomics England Curator)CBL was added to IUGR and IGF abnormalitiespanel. Sources: Other
10 May 2016, Gel status: 0
Created
emma baple (Genomics England Curator)CBL was created by ebapleC