| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.12 | KCNA4 | Achchuthan Shanmugasundram reviewed gene: KCNA4: Rating: RED; Mode of pathogenicity: Other; Publications: 27582084; Phenotypes: KCN4 related abnormal striatum, congenital cataract and intellectual disability.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNA4 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNA4 was changed from Other - please provide details in the comments to Other Publications for gene: KCNA4 were updated from to 27582084 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | KCNA4 | Rebecca Foulger reviewed gene: KCNA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.151 | KCNA4 |
Rebecca Foulger gene: KCNA4 was added gene: KCNA4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: KCNA4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNA4 were set to KCN4 related abnormal striatum, congenital cataract and intellectual disability. Mode of pathogenicity for gene: KCNA4 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||