| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.12 | KCNA1 | Achchuthan Shanmugasundram reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: Other; Publications: 30055040, 33355533, 31586945; Phenotypes: KCNA1-related epileptic encephalopathy, biallelic, KCNA1-related epileptic encephalopathy, monoallelic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNA1 |
Achchuthan Shanmugasundram gene: KCNA1 was added gene: KCNA1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: KCNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KCNA1 were set to 30055040; 33355533; 31586945 Phenotypes for gene: KCNA1 were set to KCNA1-related epileptic encephalopathy, biallelic; KCNA1-related epileptic encephalopathy, monoallelic Mode of pathogenicity for gene: KCNA1 was set to Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||