Table 6:
CMA-identified cnVUSs in patients with HLHS associated with medically relevant genes/phenotypes.
| Chromosome | CMA Change | Medically Relevant / Phenotype |
|---|---|---|
| Xp22.13p22.12 | Gain, Gain | - |
| 7q21.11 | Gain |
MAGI2: associated with bipolar affective disorder, schizophrenia, and infantile spasms. |
| 22q13.2 | Gain | - |
| 1p36.33 | Gain |
SKI: monosomy 1p36, which is associated with facial clefting anomalies, generalized epilepsy with febrile seizures, cranial suture closure anomalies, and seizures. |
| Xq21.31 | Loss | - |
| 16q24.2 | Gain | - |
| Xq28 | Gain | - |
| 1q21.1q21.2 | Gain |
GJA5: associated with learning disability, autism spectrum disorders, macrocephaly, behavioral features, atrial fibrillation, atrial standstill, and tetralogy of Fallot. GJA8: associated with cataracts. |
| 20q12q13.11 | Loss | - |
| 6p25.3 | Gain | - |
| 2p21 | Gain | - |
| 1q21.1 | Gain |
HFE2: 1q21.1 duplication syndrome (no further info.) |
| 2p13.1p12 | Gain | - |
| 17q23.2 | Loss | - |
| 6q23.3 | Loss | AHI1: haploinsufficient 6q23.3 |
| 7q21.13 | Gain | - |
| 5p13.2 | Loss | - |
| 9p24.3 | Loss | - |
| 16q22.1 | Loss | - |
| 6q24.2q25.3 | Absence of | - |
| Heterozygosity |