Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.61 | TRAF7 | Achchuthan Shanmugasundram changed review comment from: The 'watchlist' tag was removed as there is only one gene-disease association currently available in the DD panel in G2P database (July 2023) and the rating for this panel is strong (equivalent to green in PanelApp).; to: The 'watchlist' tag was removed as there is only one gene-disease association currently present in the DD panel in G2P database (July 2023) and the rating for this panel is strong (equivalent to green in PanelApp). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.61 | TRAF7 | Achchuthan Shanmugasundram commented on gene: TRAF7: The 'watchlist' tag was removed as there is only one gene-disease association currently available in the DD panel in G2P database (July 2023) and the rating for this panel is strong (equivalent to green in PanelApp). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.61 | TRAF7 | Achchuthan Shanmugasundram Phenotypes for gene: TRAF7 were changed from Developmental Delay Congenital Anomalies and Dysmorphic Features to Developmental Delay Congenital Anomalies and Dysmorphic Features | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.61 | TRAF7 | Achchuthan Shanmugasundram Tag watchlist was removed from gene: TRAF7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.61 | TRAF7 | Achchuthan Shanmugasundram Phenotypes for gene: TRAF7 were changed from Developmental Delay Congenital Anomalies and Dysmorphic Features to Developmental Delay Congenital Anomalies and Dysmorphic Features | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.61 | TRAF7 | Achchuthan Shanmugasundram Phenotypes for gene: TRAF7 were changed from Developmental Delay, Congenital Anomalies, and Dysmorphic Features; Developmental delay, congenital malformations and dysmorphism to Developmental Delay Congenital Anomalies and Dysmorphic Features | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | TRAF7 | Achchuthan Shanmugasundram reviewed gene: TRAF7: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29961569; Phenotypes: Developmental Delay Congenital Anomalies and Dysmorphic Features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | TRAF7 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TRAF7 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.33 | TRAF7 | Rebecca Foulger commented on gene: TRAF7: Kept 'watchlist' tag when adding in new DD-G2P gene-disorder from March 2019; although DDG2P has multiple ratings (probable and confirmed), the three disorders are very similar (Developmental Delay Congenital Anomalies and Dysmorphic Features, Developmental Delay, Congenital Anomalies, and Dysmorphic Features, Developmental delay, congenital malformations and dysmorphism). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.33 | TRAF7 | Rebecca Foulger Publications for gene: TRAF7 were set to 29961569 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.32 | TRAF7 | Rebecca Foulger commented on gene: TRAF7: New gene:disorder association added to DDG2P in March 2019: Developmental Delay Congenital Anomalies and Dysmorphic Features. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.87 | TRAF7 | Rebecca Foulger Classified gene: TRAF7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.87 | TRAF7 | Rebecca Foulger Gene: traf7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.55 | TRAF7 | Rebecca Foulger edited their review of gene: TRAF7: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Developmental Delay, Congenital Anomalies, and Dysmorphic Features.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.4 | TRAF7 | Rebecca Foulger Tag watchlist tag was added to gene: TRAF7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.4 | TRAF7 | Rebecca Foulger commented on gene: TRAF7: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | TRAF7 | Rebecca Foulger reviewed gene: TRAF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | TRAF7 | Rebecca Foulger Added phenotypes Developmental Delay, Congenital Anomalies, and Dysmorphic Features for gene: TRAF7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | TRAF7 |
Rebecca Foulger gene: TRAF7 was added gene: TRAF7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRAF7 were set to 29961569 Phenotypes for gene: TRAF7 were set to Developmental delay, congenital malformations and dysmorphism Mode of pathogenicity for gene: TRAF7 was set to Other - please provide details in the comments |