SCN2A is on the Developmental Disorders Genotype-Phenotype Database (DDG2P) because variants in the gene have been previously associated with specific developmental phenotypes. Below is a summary of information about the gene and characteristics of the relevant causal variant. Further information can be found in the DDG2P table.
|Confirmed||Monoallelic||Benign Familial Neonatal Infantile Seizures||Loss of function|
|Confirmed||Monoallelic||Infantile Epileptic Encephalopathy||All missense/in frame|
|Confirmed||Monoallelic||Nonspecific Severe ID||Loss of function|