Cerebral vascular malformations
Gene: CBL
New gene - deemed relevant to the GMS panel R336 Cerebral vascular malformationsCreated: 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
The addition of the CBL gene is supported by two publication as well as personal observations of the submitter
Sources: Literature, ResearchCreated: 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
Source Yorkshire and North East GLH was added to CBL.
Gene: cbl has been classified as Amber List (Moderate Evidence).
Source NHS GMS was added to CBL.
Gene: cbl has been classified as Green List (High Evidence).
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
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