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| 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 |
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| 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 |
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| 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 |
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