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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 v3.12 | NR1I3 | Achchuthan Shanmugasundram reviewed gene: NR1I3: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: EHMT1-LIKE INTELLECTUAL DISABILITY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MBD5 | Achchuthan Shanmugasundram reviewed gene: MBD5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23422940; Phenotypes: EHMT1-LIKE INTELLECTUAL DISABILITY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EHMT1 | Achchuthan Shanmugasundram reviewed gene: EHMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27123477, 23232695, 16826528, 28361100, 19264732, 28498556; Phenotypes: Kleefstra syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EHMT1 | Achchuthan Shanmugasundram Publications for gene: EHMT1 were updated from 19264732; 28498556; 16826528 to 27123477; 23232695; 16826528; 28361100; 19264732; 28498556 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.4 | EHMT1 | Rebecca Foulger Publications for gene: EHMT1 were set to 19264732; 16826528 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.3 | EHMT1 | Rebecca Foulger Added comment: Comment on phenotypes: Updated Phenotypes frp, '9Q SUBTELOMERIC DELETION SYNDROME 610253' to 'Kleefstra syndrome' to reflect DD-G2P update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.3 | EHMT1 | Rebecca Foulger Phenotypes for gene: EHMT1 were changed from 9Q SUBTELOMERIC DELETION SYNDROME 610253 to Kleefstra syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.2 | EHMT1 | Rebecca Foulger reviewed gene: EHMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NR1I3 |
Rebecca Foulger gene: NR1I3 was added gene: NR1I3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NR1I3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NR1I3 were set to EHMT1-LIKE INTELLECTUAL DISABILITY Mode of pathogenicity for gene: NR1I3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MBD5 |
Rebecca Foulger gene: MBD5 was added gene: MBD5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MBD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MBD5 were set to EHMT1-LIKE INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | EHMT1 |
Rebecca Foulger gene: EHMT1 was added gene: EHMT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EHMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EHMT1 were set to 19264732; 16826528 Phenotypes for gene: EHMT1 were set to 9Q SUBTELOMERIC DELETION SYNDROME 610253 |
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