| Prenatal imaging findings | Gene | Location | Consequence | Inheritance |
---|---|---|---|---|---|
FetalC0247 | Facial | OR4M2, OR4N4, POTEB3, OR4N4C, POTEB | Chr15, 21422120–22429653 | 1.01 mb duplication | De novo |
STAG2 | ChrX, 124062902 | Missense variant | Hemizygous male fetus maternal inherited | ||
FetalC0290 | Hydrops | TSC2, PKD1 | Chr16, 2084905–2118880 | 33.98 kb deletion | De novo |
NIPBL | Chr5, 37007445 | Missense variant | De novo | ||
FetalC0309 | Skeletal | FOXD4L6, SPATA31A6, CBWD6, CBWD6, CNTNAP3B | Chr9, 40992379–42569325 | 1.58 mb duplication | De novo |
KIF22 | Chr16, 29802813 | Missense variant | De novo | ||
FetalC0450 | Cardiac | GGTLC3, RIMBP3, TSSK2, GSC2, SLC25A1, MRPL40, C22orf39, CLDN5, SEPTIN5, GP1BB, RTL10, TRMT2A, CCDC188, THAP7, SLC7A4, TUBA8, USP18, TMEM191B, DGCR6, PRODH, DGCR2, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SERPIND1, SNAP29, CRKL, LZTR1, P2RX6, LRRC74B, ESS2, CLTCL1, HIRA, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3 | Chr22, 18108288–21085716 | 2.98 mb deletion | De novo |
CHD4 | Chr12, 6587859 | Missense variant | De novo | ||
FetalC0497 | Cardiac | FOXD4L6, SPATA31A6, CBWD6, CBWD6, CNTNAP3B | Chr9, 41034878–42569325 | 1.53 mb duplication | De novo |
CHD7 | Chr8, 60828661 | Splice acceptor variant | De novo | ||
FetalC0759 | Skeletal | OR4M2, OR4N4, POTEB3, OR4N4C, POTEB | Chr15, 21165579–22279173 | 1.11 mb duplication | De novo |
BBS5 | Chr2, 169482248 | Splice region variant | Homozygous inherited | ||
FetalC0862 | Cardiac | ADAMTS2 | Chr5, 179343692–179345442 | 1.75 kb duplication | Compound heterozygous inherited |
ADAMTS2 | Chr5, 179125137 | Missense variant | Compound heterozygous inherited | ||
FetalC1438 | Hydrops | GTF2H2C, SERF1B, SMN2 | Chr5, 69582366–70785650 | 1.20 mb deletion | De novo |
FLNB | Chr3, 58078804 | Missense variant | De novo | ||
FetalC1533 | Skeletal | H3-2, PPIAL4E, FAM72C, NBPF15 | Chr1, 143449487–144450895 | 1.00 mb deletion | De novo |
FGFR3 | Chr4, 1804392 | Missense variant | De novo | ||
FetalC1595 | Gastrointestinal tract and AW | CYP21A2 | Chr6, 32013119–32044190 | 31.07 kb duplication | Compound heterozygous inherited |
CYP21A2 | Chr6, 32038507 | Missense variant | Compound heterozygous inherited |