Activity
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| Sarcoma of possible germline origin v0.4 | RB1 | Achchuthan Shanmugasundram commented on gene: RB1: RB1 has been added to the panel for the clinical indication 'R457 Sarcoma of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma of possible germline origin v0.2 | RB1 | Achchuthan Shanmugasundram reviewed gene: RB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinoblastoma, OMIM:180200, Retinoblastoma, trilateral, OMIM:180200, hereditary retinoblastoma, MONDO:0018160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma of possible germline origin v0.1 | RB1 |
Achchuthan Shanmugasundram gene: RB1 was added gene: RB1 was added to Sarcoma of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RB1 were set to Retinoblastoma, OMIM:180200; Retinoblastoma, trilateral, OMIM:180200; hereditary retinoblastoma, MONDO:0018160 |
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