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| DDG2P v3.12 | KCNH1 | Achchuthan Shanmugasundram reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25420144; Phenotypes: TEMPLE BARRAISTER SYNDROME, OMIM:611816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNH1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNH1. Mode of pathogenicity for gene KCNH1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | KCNH1 | Rebecca Foulger reviewed gene: KCNH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KCNH1 |
Rebecca Foulger gene: KCNH1 was added gene: KCNH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNH1 were set to 25420144 Phenotypes for gene: KCNH1 were set to TEMPLE BARRAISTER SYNDROME 611816 Mode of pathogenicity for gene: KCNH1 was set to Other - please provide details in the comments |
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