Table 2 Unsolved cases with new candidate genes
HPO terms used | Number of genes with candidate variant | Number of genes with Z ≥ 5 | Candidate gene | Variants | CADD scores | GnomAD minor allele frequency | Supporting papers | Expression in relevant tissue |
---|---|---|---|---|---|---|---|---|
HP:0001644 | 215 | 5 | OBSCN | NM_001098623.2:c. [15037 C > T]; [20963delC] | 24.8 25.2 | 8.0 × 10−5 1.7 × 10−3 | Yes | |
HP:0001644 | 226 | 3 | OBSCN | NM_001098623.2:c. [5545 C > T]; [22384 + 3 _22384 + 21del] | 14.7 7.8 | 3.2 × 10−4 0 | Yes | |
HP:0008066 HP:0008064 | 359 | 3 | FLG2 | NM_001014342.2:c. [632 C > G];[632 C > G] | 35.0 | 1.1 × 10−5 | Yes | |
HP:0001263 HP:0001249 HP:0000717 HP:0000708 HP:0002167 HP:0002360 HP:0000664 | 206 | 12 | INO80 | NM_017553.2:c. [898C > T] | 34 | 0 | Yes | |
HP:0001644 | 120a | 2 | MB | NM_00203377.1:c. [214 G > A] | 22.4 | 3.6 × 10−5 | Yes | |
HP:0001644 | 120a | 1 | SYNPO2L b | NM_001114133.2:c. [473 G > A] | 24.1 | 5.4 × 10−4 | Yes | |
HP:0001638 | 292 | 4 | NRAP b | NM_001261463.1:c. [4648 C > T] | 20.4 | 8.7 × 10−4 | Yes | |
HP:0004322 HP:0001249 | 381 | 10 | CCNB2 | NM_004701.3:c. 25-3_25delCAGG | 24.5 | 0 | Yes | |
HP:0003493 HP:0002583 | 246 | 6 | LY75 | NM_002349.2: c. 3476 C > T(;) 23 C > G | 22.7 24.1 | 3.2 × 10−3 2.6 × 10−3 | Yes | |
HP:0012649 HP:0002583 HP:0001890 | 318 | 8 | AGAP2 | NM_001122772.1:c. 421delC | 27.2 | 0 | Yes |