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Table 2 Top 26 LGD de novo-enriched genes associated with NDDs

From: Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

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