Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.176 | GCH1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: GCH1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GCH1 | Achchuthan Shanmugasundram edited their review of gene: GCH1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GCH1-related GTP cyclohydrolase 1 deficiency are definitive, biallelic_autosomal and undetermined (PMIDs: 10987649, 12552057, 15389992, 20842687, 29471552, 7730309, 9667588). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01026. The DDG2P confidence category, allelic requirement and molecular mechanism for GCH1-related dystonia are definitive, monoallelic_autosomal and undetermined (PMIDs: 10078749, 10208576, 10732814, 11113234, 11359069, 11486899, 11956954, 12023430, 12874420, 14509676, 16289769, 17111153, 17410324, 17557242, 17804835, 17898029, 18044725, 18345435, 18511327, 18621497, 19533203, 19566901, 20082337, 20108370, 20437540, 20491893, 21834904, 21935284, 22373569, 24018121, 24509643, 24948553, 25119902, 25634433, 26400349, 28087438, 28415164, 28582483, 28958832, 29290055, 29577080, 29948246, 7874165, 9576537, 9585358, 9667588). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01085.; Changed publications to: 29471552, 20082337, 17111153, 29577080, 28958832, 17410324, 20108370, 11359069, 17898029, 26400349, 9576537, 22373569, 24948553, 24509643, 25119902, 17804835, 20437540, 24018121, 9667588, 21935284, 12552057, 19533203, 9585358, 29290055, 18621497, 18345435, 7730309, 21834904, 7874165, 11113234, 11486899, 28415164, 12023430, 10987649, 29948246, 10208576, 19566901, 28582483, 15389992, 10732814, 16289769, 18044725, 17557242, 20491893, 10078749, 14509676, 28087438, 18511327, 25634433, 20842687, 11956954, 12874420; Changed phenotypes to: OMIM:233910.0, DYSTONIA TYPE 5, OMIM:128230, OMIM:128230.0, GCH1-related dystonia, GCH1-related GTP cyclohydrolase 1 deficiency, GTP CYCLOHYDROLASE 1 DEFICIENCY, OMIM:233910, MONDO:0007495 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GCH1 | Achchuthan Shanmugasundram reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12552057, 9667588, 7874165, 10208576, 17111153, 9576537, 7730309, 11359069, 10732814, 11486899, 10987649; Phenotypes: GTP CYCLOHYDROLASE 1 DEFICIENCY, OMIM:233910, DYSTONIA TYPE 5, OMIM:128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GCH1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GCH1 was changed from Other - please provide details in the comments to Other Publications for gene: GCH1 were updated from 11359069; 10732814; 11486899; 9576537; 9667588; 17111153; 10208576; 7874165 to 12552057; 9667588; 7874165; 10208576; 17111153; 9576537; 7730309; 11359069; 10732814; 11486899; 10987649 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GCH1 | Rebecca Foulger reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GCH1 |
Rebecca Foulger Added phenotypes DYSTONIA TYPE 5 128230 for gene: GCH1 Publications for gene GCH1 were changed from 7730309; 12552057; 10987649; 9667588 to 11359069; 10732814; 11486899; 9576537; 9667588; 17111153; 10208576; 7874165 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GCH1 |
Rebecca Foulger gene: GCH1 was added gene: GCH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GCH1 were set to 7730309; 12552057; 10987649; 9667588 Phenotypes for gene: GCH1 were set to GTP CYCLOHYDROLASE 1 DEFICIENCY 233910 Mode of pathogenicity for gene: GCH1 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||