Gene | Chr. | LSL | Clinical cohort | Gene support | LOF OP (%ile) | pLI | ||
---|---|---|---|---|---|---|---|---|
LSL ID | Mode | CVM | Non-CVM | |||||
ACVR1 | 2 | LO1462 | De novo | 0 | 0 | MGI, HE, TGFB | 0.201 | 0.96 |
JARID2 | 6 | LO0189 | De novo | 1 | 0 | MGI, PITX2 | 0 | 0.99 |
KMT2D | 12 | LO0785 | De novo | 7 | 13 | CVM | 0 | 1 |
NF1 | 17 | LO2000 | De novo | 1 | 4 | CVM, MGI, HE | 0.166 | 1 |
NR2F2 | 15 | LO0260 | De novo | 0 | 0 | CVM, MGI | 0 | 0.91 |
PLRG1 | 4 | LO0943 | De novo | 0 | 0 | MGI | 0 | 0.99 |
SMURF1 | 7 | LO1765 | De novo | 1 | 0 | TGFB | 0 | 0.99 |
TBX20 | 7 | LO0746 | De novo | 0 | 0 | CVM, MGI, HE | 0 | 0.34 |
ZEB2 | 2 | LO0747 | De novo | 6 | 4 | CVM, ZFIN | 0 | 0.99 |
ARHGEF11 | 1 | LO2218 | Inherited | 2 | 0 | ZFIN | 0.156 | 0.99 |
CCDC91 | 12 | LO0222 | Inherited | 1 | 3 | PITX2 | 0 | 3.2E-05 |
CDH2 | 18 | LO1263 | Inherited | 2 | 2 | MGI, HE, PITX2 | 0.077 | 1 |
E2F6 | 2 | LO0970 | Inherited | 0 | 0 | PITX2 | 0 | 0.55 |
FGF19 | 11 | LO1957 | Inherited | 0 | 0 | MGI | 0 | 0.29 |
GJC1 | 17 | LO0192 | Inherited | 0 | 0 | MGI, ZFIN | 0 | 0.94 |
GLRX3 | 10 | LO0350 | Inherited | 0 | 0 | MGI, HE | 0 | 0.63 |
LATS2 | 13 | LO0238 | Inherited | 2 | 4 | MGI | 0.119 | 0.87 |
LTBP1 | 2 | LO2218 | Inherited | 1 | 2 | MGI, TGFB | 0 | 0.53 |
MNDA | 1 | LO0369 | Inherited | 0 | 0 | CHD candidate | 0.265 | 7.2E-11 |
PCDHGA2 | 5 | LO0605 | Inherited | 0 | 4 | HE | 0 | 8.2E-07 |
PCSK6 | 15 | LO1210 | Inherited | 2 | 3 | MGI | 0 | 0.01 |
RAC1 | 7 | LO0938 | Inherited | 0 | 0 | MGI, HE | 0 | 0.57 |
DNAH5 | 5 | LO1298 | Recessive | 6 | 30 | CVM, MGI, HE, PCD | 0.299 | 5.8E-37 |
OFD1 | X | LO1488 | X-linked | 1 | 3 | CVM, MGI, ZFIN | 0 | 0.98 |
BMP1 | 8 | LO0605 | Unknown | 0 | 1 | MGI | 0 | 0.87 |
JMJD6 | 17 | LO0295 | Unknown | 0 | 1 | MGI | 0 | 0.82 |
ROCK1 | 18 | LO0453 | Unknown | 1 | 5 | MGI, TGFB, PITX2 | 0 | 1 |