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| DDG2P v3.12 | SMARCB1 | Achchuthan Shanmugasundram reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9671307, 22726846, 25249037, 23906836, 22426308, 10739763, 10521299, 23929686, 23815551, 29907796; Phenotypes: EHMT1-like SYNDROME, RHABDOID PREDISPOSITION SYNDROME 1, OMIM:609322; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SMARCB1 | Achchuthan Shanmugasundram Publications for gene: SMARCB1 were updated from 25249037; 23929686; 22726846; 23906836; 23815551; 29907796; 22426308 to 9671307; 22726846; 25249037; 23906836; 22426308; 10739763; 10521299; 23929686; 23815551; 29907796 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.50 | SMARCB1 | Rebecca Foulger commented on gene: SMARCB1: MOP for EHMT1-like SYNDROME: all missense/in frame. Rating for EHMT1-like SYNDROME: confirmed. MOI for EHMT1-like SYNDROME: monoallelic. MOP for RHABDOID PREDISPOSITION SYNDROME 1: loss of function. Rating for RHABDOID PREDISPOSITION SYNDROME 1: confirmed. MOI for RHABDOID PREDISPOSITION SYNDROME 1: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.29 | SMARCB1 | Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotype based on DD-G2P update, from ?COFFIN-SIRIS SYNDROME 135900 to EHMT1-like SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.29 | SMARCB1 | Rebecca Foulger Phenotypes for gene: SMARCB1 were changed from ?COFFIN-SIRIS SYNDROME 135900; RHABDOID PREDISPOSITION SYNDROME 1 609322 to EHMT1-like SYNDROME; RHABDOID PREDISPOSITION SYNDROME 1 609322 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.28 | SMARCB1 | Rebecca Foulger Publications for gene: SMARCB1 were set to 9671307; 10739763; 10521299 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMARCB1 | Rebecca Foulger reviewed gene: SMARCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SMARCB1 | Rebecca Foulger Added phenotypes ?COFFIN-SIRIS SYNDROME 135900 for gene: SMARCB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SMARCB1 |
Rebecca Foulger gene: SMARCB1 was added gene: SMARCB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCB1 were set to 9671307; 10739763; 10521299 Phenotypes for gene: SMARCB1 were set to RHABDOID PREDISPOSITION SYNDROME 1 609322 |
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