Activity
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| Sarcoma of possible germline origin v0.4 | DICER1 | Achchuthan Shanmugasundram commented on gene: DICER1: DICER1 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 | DICER1 | Achchuthan Shanmugasundram reviewed gene: DICER1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pleuropulmonary blastoma, OMIM:601200, Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800, Rhabdomyosarcoma, embryonal, 2, OMIM:180295, rhabdomyosarcoma, embryonal, 2, MONDO:0859046, DICER1-related tumor predisposition, MONDO:0100216; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma of possible germline origin v0.1 | DICER1 |
Achchuthan Shanmugasundram gene: DICER1 was added gene: DICER1 was added to Sarcoma of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DICER1 were set to Pleuropulmonary blastoma, OMIM:601200; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800; Rhabdomyosarcoma, embryonal, 2, OMIM:180295; rhabdomyosarcoma, embryonal, 2, MONDO:0859046; DICER1-related tumor predisposition, MONDO:0100216 |
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