Table 2.
Summary of episignatures and causative sequence variants identified in this study
| Gene | Signature | MVP | Genomic Variant (GRCh38/hg38) | Consequence | Inheritance |
|---|---|---|---|---|---|
| ANKRD11 |
KBGS/ MRD23 |
0.854 | chr16:89,284,030 G > A | p.Arg838Ter (p) | de novo |
| 0.989 | chr16:89,279,671 C > A | p.Glu2291Ter (p) | de novo | ||
| SETD1B | IDDSELD | 0.763 | chr12:121,822,939 C > T | p.Arg1454Ter (p) | Unknown |
| TET3 | BEFAHRS | 0.327 | chr2:74,102,031 dup | p.Thr1749HisfsTer5 (p) | Inherited (mat) |
| UBE2A | MRXSN | 0.149 | chrX:119,583,172 G > A | p.Ala126Thr (p) | Inherited (mat) |
| SMS | MRXSSR | 0.319 | chrX:21,972,570 C > G | p.Arg110Gly (p) | Inherited (mat) |
| KDM2B | KDM2B | 0.982 | chr12:121,520,986 C > G | p.Arg349Pro (u) | Inherited (pat) |
List of episignature findings from screening uDEEs. Methylation Variant Pathogenicity (MVP) scores shown. Molecular findings are considered p=pathogenic or u=variant of uncertain significance. Inheritance is listed as de novo, mat maternal, pat paternal.