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.

Category Mode Disease Consequence
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