Table 2.
Top 26 LGD de novo-enriched genes associated with NDDs
| Gene | NDD (n = 11,505) | ID/DD (n = 5303) | ASD (n = 5624) | Epilepsy (n = 532) | Weighted ASD:ID/DD ratio | SFARI gene score | SFARI report count |
|---|---|---|---|---|---|---|---|
| ARID1B | 45 | 36 | 9 | 0 | 0.236 | 1 | 23 |
| ANKRD11 | 41 | 35 | 4 | 2 | 0.108 | 2 | 27 |
| KMT2A | 36 | 29 | 5 | 2 | 0.163 | 2 | 11 |
| ADNP | 26 | 20 | 6 | 0 | 0.283 | 1 | 18 |
| DDX3X | 24 | 22 | 2 | 0 | 0.086 | 3 | 4 |
| SYNGAP1 | 24 | 17 | 6 | 1 | 0.333 | 1 | 34 |
| ASXL3 | 22 | 19 | 3 | 0 | 0.149 | 1 | 8 |
| DYRK1A | 20 | 15 | 5 | 0 | 0.314 | 1 | 28 |
| SCN2A | 19 | 10 | 9 | 0 | 0.849 | 1 | 40 |
| SETD5 | 18 | 17 | 1 | 0 | 0.056 | 1 | 15 |
| CTNNB1 | 17 | 16 | 1 | 0 | 0.059 | 3 | 16 |
| POGZ | 17 | 13 | 4 | 0 | 0.290 | 1 | 20 |
| MED13L | 16 | 14 | 2 | 0 | 0.135 | 2 | 13 |
| CHD8 | 15 | 4 | 11 | 0 | 2.593 | 1 | 22 |
| CHD2 | 14 | 8 | 4 | 2 | 0.472 | 2 | 18 |
| EP300 | 14 | 13 | 1 | 0 | 0.073 | 4 | 13 |
| KAT6B | 14 | 13 | 0 | 1 | 0.000 | N/A | N/A |
| MECP2 | 13 | 7 | 4 | 2 | 0.539 | 2 | 58 |
| AHDC1 | 12 | 11 | 1 | 0 | 0.086 | 3 | 6 |
| FOXP1 | 11 | 9 | 2 | 0 | 0.210 | 2 | 24 |
| TCF4 | 11 | 10 | 1 | 0 | 0.094 | S | 28 |
| WDR45 | 10 | 7 | 0 | 3 | 0.000 | N/A | N/A |
| GATAD2B | 10 | 10 | 0 | 0 | 0.000 | N/A | N/A |
| KAT6A | 10 | 9 | 1 | 0 | 0.105 | 3 | 7 |
| SHANK3 | 10 | 4 | 6 | 0 | 1.414 | 1 | 56 |
| TCF20 | 10 | 9 | 1 | 0 | 0.105 | 3 | 5 |