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| Familial tumours of the nervous system v2.11 | SMARCB1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #162091 & #609322) and the OMIM records were last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v2.11 | SMARCB1 | Achchuthan Shanmugasundram Phenotypes for gene: SMARCB1 were changed from to {Schwannomatosis-1, susceptibility to}, OMIM:162091; {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322; rhabdoid tumor predisposition syndrome 1, MONDO:0012252; SMARCB1-related schwannomatosis, MONDO:0024517 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v0.1 | SMARCB1 | Achchuthan Shanmugasundram reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v0.1 | SMARCB1 |
Achchuthan Shanmugasundram gene: SMARCB1 was added gene: SMARCB1 was added to Familial tumours of the nervous system. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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