Table 3.
OMKar G2P explanations for undiagnosed postnatal cases
| Sample | Clinical indication | Clinical diagnosis | OMKar genotype | OMKar G2P prediction |
|---|---|---|---|---|
| 2081 | Absent teeth, ID | ID | (new) PAX8 deletion | Congenital hypothyroidism nongoiterous type 2 |
| 2280 | Mild dysmorphic features, hypotonia, DD | Kabuki syndrome; unknown | (New) deletion in the middle of translocation, WDFY3+HNRNPD | Primary microcephaly or macrocephaly with developmental delay; HNRNPD-related developmental disorder (monoallelic) |
| 2276 | Seizures, ID | Unknown | Translocation interrupts TANC2 | TANC2-related neurodevelopmental and psychiatric disorders |
| 2281 | DD | DD | Transposition interrupts MBD5 | EHMT1-like ID |
| 2282 | ID | ID | Translocation interrupts SOX5 | 12P12.5 intragenic deletions associated with ID |
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(ID) Intellectual disability, (DD) developmental delay.
