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Sarcoma susceptibility v1.56 SMARCB1 Arina Puzriakova Mode of inheritance for gene: SMARCB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v1.55 SMARCB1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Coffin-Siris syndrome 3, OMIM:614608 and Rhabdoid tumors, somatic, OMIM:609322
Sarcoma susceptibility v1.55 SMARCB1 Arina Puzriakova Phenotypes for gene: SMARCB1 were changed from Rhabdoid tu, schwannomatosis to {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322; Rhabdoid tumor predisposition syndrome 1, MONDO:0012252; {Schwannomatosis-1, susceptibility to}, OMIM:162091; Schwannomatosis 1, MONDO:0024517
Sarcoma susceptibility v0.5 SMARCB1 Rebecca Foulger Source NHS GMS was added to SMARCB1.
Sarcoma susceptibility v0.2 SMARCB1 Rebecca Foulger reviewed gene: SMARCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.0 SMARCB1 Rebecca Foulger gene: SMARCB1 was added
gene: SMARCB1 was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: SMARCB1 was set to
Phenotypes for gene: SMARCB1 were set to Rhabdoid tu, schwannomatosis