Table 2.
Loss of function mutations in probands.
| Gene Symbol | Gene Description | Mutation Type |
|---|---|---|
| ADAM33 | ADAM metallopeptidase domain 33 | Nonsense |
| CSDE1 | Cold shock domain containing E1, RNA-binding | Nonsense |
| EPHB2 | EPH (Ephrin) receptor B2 | Nonsense |
| FAM8A1 | Family with sequence similarity 8, member A1 | Nonsense |
| FREM3 | FRAS1 related extracellular matrix 3 | Nonsense |
| MPHOSPH8 | M-phase phosphoprotein 8 | Nonsense |
| PPM1D | Protein phosphatase 1D magnesium-dependent, delta isoform | Nonsense |
| RAB2A | RAB2A, member RAS oncogene family | Nonsense |
| SCN2A | Sodium channel, voltage-gated, type II, alpha subunit | Nonsense |
| SCN2A | Sodium channel, voltage-gated, type II, alpha subunit | Nonsense |
| BTN1A1 | Butyrophilin, subfamily 1, member A1 | Splice Site |
| FCRL6 | Fc receptor-like 6 | Splice Site |
| KATNAL2 | Katanin p60 subunit A-like 2 | Splice Site |
| NAPRT1 | Nicotinate phosphoribosyltransferase domain containing 1 | Splice Site |
| RNF38 | Ring finger protein 38 | Splice Site |
| SCP2 | Sterol carrier protein 2 | Frameshift a |
| SHANK2 | SH3 and multiple ankyrin repeat domains 2 | Frameshift a |
a
Frameshift de novo variants are not included in any of the reported case-control comparisons (Supplementary Information).