Cerebral vascular malformations
Gene: CBLEnsemblGeneIds (GRCh38): ENSG00000110395
EnsemblGeneIds (GRCh37): ENSG00000110395
OMIM: 165360, Gene2Phenotype
CBL is in 14 panels
1 review
Natasha Brown (Victorian Clinical Genetics Services)
PMID: 28343148 two unrelated cases with de novo CBL variants in context of early onset severe bilateral moyamoya and subtle features of RASopathy but no haematological malignancy. One had het splice variant c.1228-2A>G previously demonstrated to lead to a partial or complete exon 9 deletion; another had het missense NM_005188.3:c.1111T>A; p.Tyr371Asn within the linker domain,
PMID: 25283271 - single case with Noonan like features, JMML, moyamoya and neovascular glaucoma.
PMID: 28589114 - single case presenting with atypical hemolytic uremic syndrome, moyamoya, and mild Noonan-like phenotype. Denovo heterozygous splicing variant in CBL (c.1096-1G>T)Created: 6 Jul 2021, 6:09 a.m. | Last Modified: 6 Jul 2021, 6:09 a.m.
Panel Version: 0.19
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
moyamoya; cerebral arteriopathy
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- early-onset moyamoya angiopathy
- 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
-
- Rasopathy
- Macrocephaly_Megalencephaly
- Fetal anomalies
- Additional findings_Paediatric
- Cardiomyopathy_Paediatric
- Mendeliome
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Cerebral vascular malformations
- Cancer Predisposition_Paediatric
- Repeat Disorders
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cbl has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CBL were set to 25283271; 28343148
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cbl has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CBL was added gene: CBL was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CBL were set to 25283271; 28343148 Phenotypes for gene: CBL were set to early-onset moyamoya angiopathy; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 Mode of pathogenicity for gene: CBL was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments