Table 1.
Genes with three or more P/LP variants in OxSOC cohort
| Gene | # cases in OxSOC | Clefting type in OxSOC | Clefting type in literature | Included in PA Clefting panel? | ID/GDD in OxSOC? (Y/N) | ID/GDD in literature? (Y/N) |
|---|---|---|---|---|---|---|
| SATB2 | 16 | CPO | CPO | Yes, green | Y | Y |
| KMT2D | 6 | CPO | CL/P | Yes, green | Y | Y |
| PGAP3 | 5 | CPO | CPO | No | Y | Y |
| CHD7 | 5 | 2 CL/P, 2 CP, 1 CP + OC | CL/P | Yes, green | Y | Y |
| EFTUD2 | 5 | CPO | CPO | Yes, green | Y | Y |
| ANKRD11 | 4 | 3 CPO, 1 CL/P | CPO | Yes, green | Y | Y |
| CTCF | 4 | 2 CPO, 2 CL/P | CL/P, CPO | Yes, green | Y | Y |
| CTNND1 | 4 | 3 CL/P, 1 CPO | CL/P | Yes, green | Y | N |
| PIEZO2 | 4 | CPO | CPO | Yes, green | Y | Y |
| ADNP | 3 | 1 CL/P, 2 CPO | CPO | No | Y | Y |
| ARID1B | 3 | CPO | CPO | No | Y | Y |
| COL2A1 | 3 | CPO | CPO | Yes, green | N | N |
| GLI2 | 3 | 1 OC, 2 CL/P | CL/P | No | Y | N |
| HNRNPK | 3 | 1 OC, 2 CPO | CPO | No | Y | Y |
| KAT6B | 3 | CPO | CL/P | Yes, red | Y | Y |
| MED13L | 3 | CPO | CPO | Yes, amber | Y | Y |
| MID1 | 3 | 1 OC, 2 CL/P | CL/P | Yes, green | N | Y |
| SMC1A | 3 | CPO | CPO | Yes, green | Y | Y |
| STAG2 | 3 | CPO | CL/P | No | Y | Y |
| ZC4H2 | 3 | CPO | CPO | No | Y | Y |
ID = intellectual disability; GDD = global developmental delay
For full OxSOC gene list, see Table S6