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DDG2P v3.12 | KCNJ6 | Achchuthan Shanmugasundram reviewed gene: KCNJ6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25620207, 36071510; Phenotypes: KEPPEN-LUBINSKY SYNDROME, OMIM:614098; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | KCNJ6 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNJ6. Mode of pathogenicity for gene KCNJ6 was changed from Other - please provide details in the comments to Other Publications for gene: KCNJ6 were updated from 25620207 to 25620207; 36071510 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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DDG2P v0.2 | KCNJ6 | Rebecca Foulger reviewed gene: KCNJ6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | KCNJ6 |
Rebecca Foulger gene: KCNJ6 was added gene: KCNJ6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNJ6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNJ6 were set to 25620207 Phenotypes for gene: KCNJ6 were set to KEPPEN-LUBINSKY SYNDROME 614098 Mode of pathogenicity for gene: KCNJ6 was set to Other - please provide details in the comments |