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Cerebral vascular malformations v0.21 CBL Zornitza Stark Marked gene: CBL as ready
Cerebral vascular malformations v0.21 CBL Zornitza Stark Gene: cbl has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.21 CBL Zornitza Stark Publications for gene: CBL were set to 25283271; 28343148
Cerebral vascular malformations v0.20 CBL Zornitza Stark Classified gene: CBL as Green List (high evidence)
Cerebral vascular malformations v0.20 CBL Zornitza Stark Gene: cbl has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.19 CBL Natasha Brown reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28343148, 25283271, 28589114; Phenotypes: moyamoya, cerebral arteriopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.0 CBL Zornitza Stark 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