| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.12 | CAD | Achchuthan Shanmugasundram reviewed gene: CAD: Rating: GREEN; Mode of pathogenicity: ; Publications: 25678555, 28007989; Phenotypes: Uridine-responsive epileptic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACADVL | Achchuthan Shanmugasundram reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: ; Publications: 8554073, 9546340, 9709714, 7668252, 11158518, 7479827, 10790204; Phenotypes: VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY, OMIM:201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACADS | Achchuthan Shanmugasundram reviewed gene: ACADS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 2808706; Phenotypes: SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY, OMIM:201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACADM | Achchuthan Shanmugasundram reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: ; Publications: 7929823, 1684086, 6434827, 1972503, 7603790, 11409868, 11349232, 9158144; Phenotypes: MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY, OMIM:201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACAD9 | Achchuthan Shanmugasundram reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: ; Publications: 21057504, 17564966; Phenotypes: ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY, OMIM:611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CAD | Achchuthan Shanmugasundram Publications for gene: CAD were updated from to 25678555; 28007989 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ACADVL | Achchuthan Shanmugasundram Publications for gene: ACADVL were updated from 10790204; 9709714; 7479827; 7668252; 9546340; 11158518; 8554073 to 8554073; 9546340; 9709714; 7668252; 11158518; 7479827; 10790204 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ACADS | Achchuthan Shanmugasundram Mode of pathogenicity for gene ACADS was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ACADM | Achchuthan Shanmugasundram Publications for gene: ACADM were updated from 11409868; 1972503; 7603790; 11349232; 9158144; 1684086; 7929823; 6434827 to 7929823; 1684086; 6434827; 1972503; 7603790; 11409868; 11349232; 9158144 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | ACADS | Rebecca Foulger commented on gene: ACADS: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.77 | ACADS |
Rebecca Foulger Source Expert Review Green was added to ACADS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | ACADS | Rebecca Foulger commented on gene: ACADS: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | ACADS | Rebecca Foulger commented on gene: ACADS: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.94 | ACADS |
Rebecca Foulger Source Expert Review Amber was added to ACADS. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.51 | CAD | Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is present in DDG2P at the time of curation. Have updated the MOI to 'biallelic' to match OMIM and other PanelApp panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.51 | CAD | Rebecca Foulger Mode of inheritance for gene: CAD was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CAD | Rebecca Foulger reviewed gene: CAD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACADVL | Rebecca Foulger reviewed gene: ACADVL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACADS | Rebecca Foulger reviewed gene: ACADS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACADM | Rebecca Foulger reviewed gene: ACADM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACAD9 | Rebecca Foulger reviewed gene: ACAD9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CAD |
Rebecca Foulger gene: CAD was added gene: CAD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CAD was set to Phenotypes for gene: CAD were set to Uridine-responsive epileptic encephalopathy |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ACADVL |
Rebecca Foulger gene: ACADVL was added gene: ACADVL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADVL were set to 10790204; 9709714; 7479827; 7668252; 9546340; 11158518; 8554073 Phenotypes for gene: ACADVL were set to VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201475 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ACADS |
Rebecca Foulger gene: ACADS was added gene: ACADS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADS were set to 2808706 Phenotypes for gene: ACADS were set to SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY 201470 Mode of pathogenicity for gene: ACADS was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ACADM |
Rebecca Foulger gene: ACADM was added gene: ACADM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADM were set to 11409868; 1972503; 7603790; 11349232; 9158144; 1684086; 7929823; 6434827 Phenotypes for gene: ACADM were set to MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201450 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ACAD9 |
Rebecca Foulger gene: ACAD9 was added gene: ACAD9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAD9 were set to 21057504; 17564966 Phenotypes for gene: ACAD9 were set to ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY 611126 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||