Activity
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| Embryonal tumour of possible germline origin v0.7 | CBL | Achchuthan Shanmugasundram commented on gene: CBL: CBL has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Embryonal tumour of possible germline origin v0.2 | CBL | Achchuthan Shanmugasundram reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563, ?Juvenile myelomonocytic leukemia, OMIM:607785, CBL-related disorder, MONDO:0013308; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Embryonal tumour of possible germline origin v0.1 | CBL |
Achchuthan Shanmugasundram gene: CBL was added gene: CBL was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CBL were set to CBL-related disorder, MONDO:0013308; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563; ?Juvenile myelomonocytic leukemia, OMIM:607785 |
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