Table 2 Diplegia cohort variant characteristics.
IDa | Family | Type | Locus | Variant(s) | Variant effect prediction | Mode of inheritance |
|---|---|---|---|---|---|---|
3 | FD-05 | trio | CTNNB1 | c.1683 + 2 T > C | HIGH (splice donor) | de novo SNV |
5 | FD-07 | trio | CYP2U1 | c.651delC | HIGH (frame shift) | autosomal recessive deletion |
6 | FD-08 | trio | SPAST | c.1276 C > T | MODERATE (missense) | de novo SNV |
7 | FD-09 | quartet | GNAO1 | c.736 G > A | MODERATE (missense) | de novo SNV |
9 | FD-11 | trio | CACNA1A | c.653 C > T | MODERATE (missense) | de novo SNV |
10 | FD-12 | trio | SPAST | c.1496 G > A | MODERATE (missense) | de novo SNV |
11 | FD-13 | trio | AMPD2 | c.515 + 1 G > A; c.1724C > T | HIGH (splice donor); MODERATE (missense) | compound heterozygous SNV |
