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| DDG2P v3.40 | DNMT3A | Achchuthan Shanmugasundram Tag watchlist was removed from gene: DNMT3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNMT3A | Achchuthan Shanmugasundram reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 24614070, 29900417, 28475857; Phenotypes: Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), Microcephalic primordial dwarfism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DNMT3A | Achchuthan Shanmugasundram Publications for gene: DNMT3A were updated from 24614070; 28475857; 29900417 to 24614070; 29900417; 28475857 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.68 | DNMT3A | Rebecca Foulger Classified gene: DNMT3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.68 | DNMT3A | Rebecca Foulger Gene: dnmt3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | DNMT3A | Rebecca Foulger edited their review of gene: DNMT3A: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.49 | DNMT3A | Rebecca Foulger Phenotypes for gene: DNMT3A were changed from Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY) 615879; Microcephalic primordial dwarfism to Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), 615879; Microcephalic primordial dwarfism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.32 | DNMT3A | Rebecca Foulger Publications for gene: DNMT3A were set to 24614070 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.14 | DNMT3A | Rebecca Foulger commented on gene: DNMT3A: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.14 | DNMT3A | Rebecca Foulger Classified gene: DNMT3A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.14 | DNMT3A | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Green to Amber while panel is V0 and unreviewed, based on DDG2P rating for newly added disorder: Rated confirmed by DDG2P for Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), formerly called OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879. Rated probable by DDG2P for Microcephalic primordial dwarfism. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.14 | DNMT3A | Rebecca Foulger Gene: dnmt3a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.13 | DNMT3A | Rebecca Foulger Tag watchlist tag was added to gene: DNMT3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.13 | DNMT3A | Rebecca Foulger Phenotypes for gene: DNMT3A were changed from OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879 to Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY) 615879; Microcephalic primordial dwarfism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.9 | DNMT3A | Rebecca Foulger edited their review of gene: DNMT3A: Added comment: New gene:disorder association added to DDG2P on 06/11/2018: Microcephalic primordial dwarfism. Multiple DDG2P ratings: Rated confirmed for OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879 and rated probable for Microcephalic primordial dwarfism. Multiple MOPs in DDG2P: gain of function for Microcephalic primordial dwarfism, and loss of function for OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879.; Changed phenotypes: Microcephalic primordial dwarfism; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DNMT3A | Rebecca Foulger reviewed gene: DNMT3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | DNMT3A |
Rebecca Foulger gene: DNMT3A was added gene: DNMT3A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNMT3A were set to 24614070 Phenotypes for gene: DNMT3A were set to OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879 |
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