List of patients with variants found in genes previously associated with neurodevelopmental phenotype
| Proband | Gene | Location | NM number | cDNA | Protein | Related phenotype | Reference |
|---|---|---|---|---|---|---|---|
| 5 | ZNF238 | chr1:244217659 | NM_006352 | c.C556T | p.(R186X) | ID; 1q43q44 deletion syndrome | 17, 18 |
| 7 | TCF4 | chr18:52996207–53243605 | Microdeletion encompassing 4 exons | Pitt-Hopkins syndrome | 19, 20 | ||
| 8 | EIF2B2 | chr14:75470349 | NM_014239 | c.C380T | p.(A127V) | Leucoencephalopathy with vanishing white matter | 21 |
| 14 | STXBP1 | chr9:130425592 | NM_001032221 | c.T538C | p.(C180R) | Early infantile epileptic encephalopathy | 22, 23 |
| 15 | SLC35A2 | chrX:48762414 | NM_001042498 | c.G772A | p.(V258M) | Early onset epileptic encephalopathy; Congenital disorder of glycosylation type II | 23, 24 |
| 17 | EEF1A2 | chr20:62127259 | NM_001958 | c.G274A | p.(A92T) | ID and epilepsy | 6, 25 |
| 19 | SHROOM4 | chrX:50378637 | NM_020717 | c.C436T | p.(R146W) | Stocco dos Santos syndrome | 26 |
ID, intellectual disability.