A list of disease-associated genes with DNMs identified in this study
| Gene | Position | Family | Mutation type | ID | Epilepsy | Associated disorder (OMIM designation and number) | Inheritance |
|---|---|---|---|---|---|---|---|
| CDKL5 | chrX:18598085:C/T | Fam2 | Stopgain | Yes | Yes | Epileptic encephalopathy, early infantile, 2, MIM:300672 | XD |
| KCNQ2 | chr20:62044879:C/A | Fam3 | Non-synonymous | Yes | Yes | Epileptic encephalopathy, early infantile, 7, MIM:613720, Seizures, benign neonatal, 1, MIM: 121200 | AD |
| SYNGAP1 | chr6:33400477:C/T | Fam4 | Stopgain | Yes | Yes | Mental retardation, autosomal dominant 5, MIM:612621 | AD |
| SETD5 | chr3:9490126:G/T | Fam5 | Stopgain | Yes | Yes | Mental retardation, autosomal dominant 23, MIM:615761 | AD |
| SMC1A | chrX:53423489:G/A | Fam6 | Stopgain | Yes | Yes | Cornelia de Lange syndrome 2, MIM:300590 | XD |
| ZMYND11 | chr10:298399:C/T | Fam7 | Non-synonymous | Yes | No | Mental retardation, autosomal dominant 30, MIM:616083 | AD |
| EFTUD2 | chr17:42931953:T/G | Fam7 | Non-synonymous | Yes | Yes | Mandibulofacial dysostosis, Guion-Almeida type, MIM:610536 | AD |
| AAAS | chr12:53702981:C/T | Fam8 | Non-synonymous | Yes | Yes | Achalasia-addisonianism-alacrimia syndrome, MIM:231550 | AR |
| GABRG2 | chr5:161576159:G/A | Fam8 | Non-synonymous | No | Yes | Epilepsy, generalised, with febrile seizures plus, type 3, MIM:611277, Epilepsy, childhood absence, susceptibility to, 2, MIM:607681 | AD |
| GRIN1 | chr9:140053150:A/C | Fam9 | Non-synonymous | Yes | Yes | Mental retardation, autosomal dominant 8, MIM:614254 | AD |
| SCN2A | chr2:166166923:C/T | Fam10 | Non-synonymous | Yes | Yes | Epileptic encephalopathy, early infantile, 11, MIM:613721, Seizures, benign familial infantile, 3, MIM:607745 | AD |
| ST5 | chr11:8752629:G/C | Fam11 | Non-synonymous | Yes | Yes | Mental retardation, MIM:140750 | AD |
| KCNA1 | chr12:5021751:C/T | Fam12 | Non-synonymous | Yes | Yes | Episodic ataxia/myokymia syndrome, MIM:160120 | AD |
| CERS1 | chr19:18990105:A/T | Fam14 | Non-synonymous | Yes | Yes | Epilepsy, progressive myoclonic, 8, MIM:616230 | AR |
| MED12 | chrX:70349234:G/A | Fam16 | Non-synonymous | Yes | Yes | Lujan-Fryns syndrome, MIM:309520, Ohdo syndrome, X-linked, MIM:300895, Opitz-Kaveggia syndrome, MIM:305450 | XR |
For each gene it is noted if it has been associated with ID, epilepsy or both, as well as OMIM IDs for each specific disease it has been associated with.
AD, autosomal dominant; AR, autosomal recessive; ID, intellectual disability; XD, X-linked dominant; XR, X-linked recessive.