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| DDG2P v3.76 | KCNH5 | Eleanor Williams Phenotypes for gene: KCNH5 were changed from INFANTILE EPILEPTIC ENCEPHALOPATHY to Developmental and epileptic encephalopathy 112, OMIM:620537 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.74 | KCNH5 | Arina Puzriakova Tag gene-checked was removed from gene: KCNH5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | KCNH5 | Eleanor Williams commented on gene: KCNH5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | KCNH5 | Eleanor Williams Tag gene-checked tag was added to gene: KCNH5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNH5 | Achchuthan Shanmugasundram reviewed gene: KCNH5: Rating: GREEN; Mode of pathogenicity: ; Publications: 36307226, 23647072; Phenotypes: KCNH5-related epilepsy and epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNH5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNH5. Publications for gene: KCNH5 were updated from 23647072 to 36307226; 23647072 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v0.2 | KCNH5 | Rebecca Foulger reviewed gene: KCNH5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KCNH5 |
Rebecca Foulger gene: KCNH5 was added gene: KCNH5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KCNH5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNH5 were set to 23647072 Phenotypes for gene: KCNH5 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: KCNH5 was set to Other - please provide details in the comments |
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