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| Primary lymphoedema v1.50 | CBL | Sarah Leigh Classified gene: CBL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.50 | CBL | Sarah Leigh Gene: cbl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.49 | CBL | Sarah Leigh Publications for gene: CBL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.48 | CBL | Sarah Leigh Classified gene: CBL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.48 | CBL | Sarah Leigh Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.48 | CBL | Sarah Leigh Gene: cbl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.45 | CBL | Sahar Mansour reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: 20619386, 20543203, 19571318; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.44 | CBL |
Sarah Leigh gene: CBL was added gene: CBL was added to Primary lymphoedema. Sources: Expert Review Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CBL were set to 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 |
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