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| Embryonal tumour of possible germline origin v0.7 | SMARCB1 | Achchuthan Shanmugasundram commented on gene: SMARCB1: SMARCB1 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 | SMARCB1 | Achchuthan Shanmugasundram reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SMARCB1-related schwannomatosis, MONDO:0024517, {Schwannomatosis-1, susceptibility to}, OMIM:162091, rhabdoid tumor predisposition syndrome 1, MONDO:0012252, {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Embryonal tumour of possible germline origin v0.1 | SMARCB1 |
Achchuthan Shanmugasundram gene: SMARCB1 was added gene: SMARCB1 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMARCB1 were set to SMARCB1-related schwannomatosis, MONDO:0024517; rhabdoid tumor predisposition syndrome 1, MONDO:0012252; {Schwannomatosis-1, susceptibility to}, OMIM:162091; {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322 |
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