Cerebral vascular malformations

Gene: CBL

Amber List (moderate evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

New gene - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Created: 29 Nov 2019, 3:41 p.m. | Last Modified: 29 Nov 2019, 5:51 p.m.
Panel Version: 1.67
Comment on list classification: Changed rating from Red to Amber - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations.
This was gene was recommended to be rated as Green but after further clinical expert it was decided to rate as Amber until there was sufficient evidence.
Created: 29 Nov 2019, 3:36 p.m. | Last Modified: 29 Nov 2019, 5:51 p.m.
Panel Version: 1.67
Review from clinical expert (Vijeya Ganesan: GOSH / ICH): important association re leukaemia, green rating.
Created: 29 Nov 2019, 3:35 p.m. | Last Modified: 29 Nov 2019, 3:35 p.m.
Panel Version: 1.53

Andrey Gagunashvili (UCL Great Ormond Street Institute of Child Health)

Green List (high evidence)

The addition of the CBL gene is supported by two publication as well as personal observations of the submitter
Sources: Literature, Research
Created: 14 Apr 2019, 4:42 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
early-onset moyamoya angiopathy

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, imprinted status unknown
Sources
Phenotypes
  • early-onset moyamoya angiopathy
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563
OMIM
165360
Clinvar variants
Variants in CBL
Penetrance
Complete
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

29 Nov 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to CBL.

29 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cbl has been classified as Amber List (Moderate Evidence).

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CBL.

29 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cbl has been classified as Green List (High Evidence).

29 Nov 2019, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CBL were changed from early-onset moyamoya angiopathy to early-onset moyamoya angiopathy; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563

14 Apr 2019, Gel status: 0

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

Andrey Gagunashvili (UCL Great Ormond Street Institute of Child Health)

gene: CBL was added gene: CBL was added to Cerebral vascular malformations. Sources: Literature,Research Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CBL were set to 28343148; 25283271 Phenotypes for gene: CBL were set to early-onset moyamoya angiopathy Penetrance for gene: CBL were set to Complete 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 Review for gene: CBL was set to GREEN