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Fetal anomalies v2.0 DLX5 downstream regulatory region Region DLX5 downstream regulatory region: gene migrated from ENSG00000158560 to ENSG00000158560 (gene set migration)
Fetal anomalies v2.0 ISCA-37500-Loss Region ISCA-37500-Loss migrated (gene set migration)
Fetal anomalies v2.0 ISCA-46300-Loss Region ISCA-46300-Loss: gene migrated from ENSG00000169375 to ENSG00000169375 (gene set migration)
Fetal anomalies v2.0 ISCA-37430-Loss Region ISCA-37430-Loss migrated (gene set migration)
Fetal anomalies v2.0 ISCA-37405-Loss Region ISCA-37405-Loss: gene migrated from ENSG00000144061 to ENSG00000144061 (gene set migration)
Fetal anomalies v2.0 ISCA-37393-Gain Region ISCA-37393-Gain migrated (gene set migration)
Fetal anomalies v2.0 ZIC2_HPE5_GCN STR ZIC2_HPE5_GCN: gene migrated from ENSG00000043355 to ENSG00000043355 (gene set migration)
Fetal anomalies v2.0 PHOX2B_CCHS_GCN STR PHOX2B_CCHS_GCN: gene migrated from ENSG00000109132 to ENSG00000109132 (gene set migration)
Fetal anomalies v2.0 HOXA13_HFGS_GCN3 STR HOXA13_HFGS_GCN3: gene migrated from ENSG00000106031 to ENSG00000106031 (gene set migration)
Fetal anomalies v2.0 SYNCRIP Gene migrated from ENSG00000135316 to ENSG00000135316 (gene set migration)
Fetal anomalies v2.0 GATM Gene migrated from ENSG00000171766 to ENSG00000171766 (gene set migration)
Fetal anomalies v2.0 GABRB3 Gene migrated from ENSG00000166206 to ENSG00000166206 (gene set migration)
Fetal anomalies v2.0 DRC1 Gene migrated from ENSG00000157856 to ENSG00000157856 (gene set migration)
Fetal anomalies v2.0 DPM3 Gene migrated from ENSG00000179085 to ENSG00000179085 (gene set migration)
Fetal anomalies v2.0 FTSJ1 Gene migrated from ENSG00000068438 to ENSG00000068438 (gene set migration)
Fetal anomalies v2.0 PHC1 Gene migrated from ENSG00000111752 to ENSG00000111752 (gene set migration)
Fetal anomalies v2.0 PCYT2 Gene migrated from ENSG00000185813 to ENSG00000185813 (gene set migration)
Fetal anomalies v2.0 HR Gene migrated from ENSG00000168453 to ENSG00000168453 (gene set migration)
Fetal anomalies v2.0 MMP13 Gene migrated from ENSG00000137745 to ENSG00000137745 (gene set migration)
Fetal anomalies v2.0 FOXP1 Gene migrated from ENSG00000114861 to ENSG00000114861 (gene set migration)
Fetal anomalies v2.0 DLG4 Gene migrated from ENSG00000132535 to ENSG00000132535 (gene set migration)
Fetal anomalies v2.0 DHX30 Gene migrated from ENSG00000132153 to ENSG00000132153 (gene set migration)
Fetal anomalies v2.0 FBXO11 Gene migrated from ENSG00000138081 to ENSG00000138081 (gene set migration)
Fetal anomalies v2.0 DHDDS Gene migrated from ENSG00000117682 to ENSG00000117682 (gene set migration)
Fetal anomalies v2.0 FARS2 Gene migrated from ENSG00000145982 to ENSG00000145982 (gene set migration)
Fetal anomalies v2.0 GALT Gene migrated from ENSG00000213930 to ENSG00000213930 (gene set migration)
Fetal anomalies v2.0 CUX2 Gene migrated from ENSG00000111249 to ENSG00000111249 (gene set migration)
Fetal anomalies v2.0 DLG3 Gene migrated from ENSG00000082458 to ENSG00000082458 (gene set migration)
Fetal anomalies v2.0 ACBD5 Gene migrated from ENSG00000107897 to ENSG00000107897 (gene set migration)
Fetal anomalies v2.0 SKIC3 Gene symbol changed from TTC37 to SKIC3 during gene set migration (ENSG00000198677 -> ENSG00000198677)
Fetal anomalies v2.0 SLC19A3 Gene migrated from ENSG00000135917 to ENSG00000135917 (gene set migration)
Fetal anomalies v2.0 DMP1 Gene migrated from ENSG00000152592 to ENSG00000152592 (gene set migration)
Fetal anomalies v2.0 COLQ Gene migrated from ENSG00000206561 to ENSG00000206561 (gene set migration)
Fetal anomalies v2.0 DNAH2 Gene migrated from ENSG00000183914 to ENSG00000183914 (gene set migration)
Fetal anomalies v2.0 DUSP6 Gene migrated from ENSG00000139318 to ENSG00000139318 (gene set migration)
Fetal anomalies v2.0 DARS2 Gene migrated from ENSG00000117593 to ENSG00000117593 (gene set migration)
Fetal anomalies v2.0 FUCA1 Gene migrated from ENSG00000179163 to ENSG00000179163 (gene set migration)
Fetal anomalies v2.0 CENPE Gene migrated from ENSG00000138778 to ENSG00000138778 (gene set migration)
Fetal anomalies v2.0 DDB2 Gene migrated from ENSG00000134574 to ENSG00000134574 (gene set migration)
Fetal anomalies v2.0 CYP19A1 Gene migrated from ENSG00000137869 to ENSG00000137869 (gene set migration)
Fetal anomalies v2.0 CYP2U1 Gene migrated from ENSG00000155016 to ENSG00000155016 (gene set migration)
Fetal anomalies v2.0 CSTB Gene migrated from ENSG00000160213 to ENSG00000160213 (gene set migration)
Fetal anomalies v2.0 CHRDL1 Gene migrated from ENSG00000101938 to ENSG00000101938 (gene set migration)
Fetal anomalies v2.0 CHD2 Gene migrated from ENSG00000173575 to ENSG00000173575 (gene set migration)
Fetal anomalies v2.0 CCNO Gene migrated from ENSG00000152669 to ENSG00000152669 (gene set migration)
Fetal anomalies v2.0 TUBA8 Gene migrated from ENSG00000183785 to ENSG00000183785 (gene set migration)
Fetal anomalies v2.0 VMA22 Gene symbol changed from CCDC115 to VMA22 during gene set migration (ENSG00000136710 -> ENSG00000136710)
Fetal anomalies v2.0 BGN Gene migrated from ENSG00000182492 to ENSG00000182492 (gene set migration)
Fetal anomalies v2.0 PTCHD1 Gene migrated from ENSG00000165186 to ENSG00000165186 (gene set migration)
Fetal anomalies v2.0 BCKDHB Gene migrated from ENSG00000083123 to ENSG00000083123 (gene set migration)
Fetal anomalies v2.0 SOX17 Gene migrated from ENSG00000164736 to ENSG00000164736 (gene set migration)
Fetal anomalies v2.0 BCKDHA Gene migrated from ENSG00000248098 to ENSG00000248098 (gene set migration)
Fetal anomalies v2.0 NDUFS7 Gene migrated from ENSG00000115286 to ENSG00000115286 (gene set migration)
Fetal anomalies v2.0 DNM1 Gene migrated from ENSG00000106976 to ENSG00000106976 (gene set migration)
Fetal anomalies v2.0 ATP8B1 Gene migrated from ENSG00000081923 to ENSG00000081923 (gene set migration)
Fetal anomalies v2.0 APTX Gene migrated from ENSG00000137074 to ENSG00000137074 (gene set migration)
Fetal anomalies v2.0 NEK10 Gene migrated from ENSG00000163491 to ENSG00000163491 (gene set migration)
Fetal anomalies v2.0 AP3B1 Gene migrated from ENSG00000132842 to ENSG00000132842 (gene set migration)
Fetal anomalies v2.0 ANO5 Gene migrated from ENSG00000171714 to ENSG00000171714 (gene set migration)
Fetal anomalies v2.0 ALS2 Gene migrated from ENSG00000003393 to ENSG00000003393 (gene set migration)
Fetal anomalies v2.0 ALDH5A1 Gene migrated from ENSG00000112294 to ENSG00000112294 (gene set migration)
Fetal anomalies v2.0 ACADS Gene migrated from ENSG00000122971 to ENSG00000122971 (gene set migration)
Fetal anomalies v2.0 ACADM Gene migrated from ENSG00000117054 to ENSG00000117054 (gene set migration)
Fetal anomalies v2.0 PATJ Gene migrated from ENSG00000132849 to ENSG00000132849 (gene set migration)
Fetal anomalies v2.0 ABCD1 Gene migrated from ENSG00000101986 to ENSG00000101986 (gene set migration)
Fetal anomalies v2.0 PHF6 Gene migrated from ENSG00000156531 to ENSG00000156531 (gene set migration)
Fetal anomalies v2.0 YWHAG Gene migrated from ENSG00000170027 to ENSG00000170027 (gene set migration)
Fetal anomalies v2.0 VDR Gene migrated from ENSG00000111424 to ENSG00000111424 (gene set migration)
Fetal anomalies v2.0 PAICS Gene migrated from ENSG00000128050 to ENSG00000128050 (gene set migration)
Fetal anomalies v2.0 TRPV3 Gene migrated from ENSG00000167723 to ENSG00000167723 (gene set migration)
Fetal anomalies v2.0 TMPRSS7 Gene migrated from ENSG00000176040 to ENSG00000176040 (gene set migration)
Fetal anomalies v2.0 THAP4 Gene migrated from ENSG00000176946 to ENSG00000176946 (gene set migration)
Fetal anomalies v2.0 ATRIP Gene migrated from ENSG00000164053 to ENSG00000164053 (gene set migration)
Fetal anomalies v2.0 TMEM53 Gene migrated from ENSG00000126106 to ENSG00000126106 (gene set migration)
Fetal anomalies v2.0 TRIM32 Gene migrated from ENSG00000119401 to ENSG00000119401 (gene set migration)
Fetal anomalies v2.0 GLA Gene migrated from ENSG00000102393 to ENSG00000102393 (gene set migration)
Fetal anomalies v2.0 AAAS Gene migrated from ENSG00000094914 to ENSG00000094914 (gene set migration)
Fetal anomalies v2.0 MDH2 Gene migrated from ENSG00000146701 to ENSG00000146701 (gene set migration)
Fetal anomalies v2.0 DNAJB13 Gene migrated from ENSG00000187726 to ENSG00000187726 (gene set migration)
Fetal anomalies v2.0 ARPC4 Gene migrated from ENSG00000241553 to ENSG00000241553 (gene set migration)
Fetal anomalies v2.0 XPA Gene migrated from ENSG00000136936 to ENSG00000136936 (gene set migration)
Fetal anomalies v2.0 ZFYVE26 Gene migrated from ENSG00000072121 to ENSG00000072121 (gene set migration)
Fetal anomalies v2.0 MPV17 Gene migrated from ENSG00000115204 to ENSG00000115204 (gene set migration)
Fetal anomalies v2.0 UROC1 Gene migrated from ENSG00000159650 to ENSG00000159650 (gene set migration)
Fetal anomalies v2.0 MORC2 Gene migrated from ENSG00000133422 to ENSG00000133422 (gene set migration)
Fetal anomalies v2.0 TCF20 Gene migrated from ENSG00000100207 to ENSG00000100207 (gene set migration)
Fetal anomalies v2.0 UFM1 Gene migrated from ENSG00000120686 to ENSG00000120686 (gene set migration)
Fetal anomalies v2.0 SYN1 Gene migrated from ENSG00000008056 to ENSG00000008056 (gene set migration)
Fetal anomalies v2.0 TAC3 Gene migrated from ENSG00000166863 to ENSG00000166863 (gene set migration)
Fetal anomalies v2.0 ST3GAL3 Gene migrated from ENSG00000126091 to ENSG00000126091 (gene set migration)
Fetal anomalies v2.0 SRP54 Gene migrated from ENSG00000100883 to ENSG00000100883 (gene set migration)
Fetal anomalies v2.0 SPTAN1 Gene migrated from ENSG00000197694 to ENSG00000197694 (gene set migration)
Fetal anomalies v2.0 SPARC Gene migrated from ENSG00000113140 to ENSG00000113140 (gene set migration)
Fetal anomalies v2.0 SP7 Gene migrated from ENSG00000170374 to ENSG00000170374 (gene set migration)
Fetal anomalies v2.0 SMS Gene migrated from ENSG00000102172 to ENSG00000102172 (gene set migration)
Fetal anomalies v2.0 SNX10 Gene migrated from ENSG00000086300 to ENSG00000086300 (gene set migration)
Fetal anomalies v2.0 SNRPE Gene migrated from ENSG00000182004 to ENSG00000182004 (gene set migration)
Fetal anomalies v2.0 TIMM8A Gene migrated from ENSG00000126953 to ENSG00000126953 (gene set migration)
Fetal anomalies v2.0 SLC6A17 Gene migrated from ENSG00000197106 to ENSG00000197106 (gene set migration)
Fetal anomalies v2.0 TK2 Gene migrated from ENSG00000166548 to ENSG00000166548 (gene set migration)
Fetal anomalies v2.0 SLC25A19 Gene migrated from ENSG00000125454 to ENSG00000125454 (gene set migration)
Fetal anomalies v2.0 SYNGAP1 Gene migrated from ENSG00000197283 to ENSG00000197283 (gene set migration)
Fetal anomalies v2.0 SLC1A2 Gene migrated from ENSG00000110436 to ENSG00000110436 (gene set migration)
Fetal anomalies v2.0 TANGO2 Gene migrated from ENSG00000183597 to ENSG00000183597 (gene set migration)
Fetal anomalies v2.0 SYP Gene migrated from ENSG00000102003 to ENSG00000102003 (gene set migration)
Fetal anomalies v2.0 SHANK3 Gene migrated from ENSG00000251322 to ENSG00000251322 (gene set migration)
Fetal anomalies v2.0 SGSH Gene migrated from ENSG00000181523 to ENSG00000181523 (gene set migration)
Fetal anomalies v2.0 SHANK1 Gene migrated from ENSG00000161681 to ENSG00000161681 (gene set migration)
Fetal anomalies v2.0 STXBP1 Gene migrated from ENSG00000136854 to ENSG00000136854 (gene set migration)
Fetal anomalies v2.0 RSPH4A Gene migrated from ENSG00000111834 to ENSG00000111834 (gene set migration)
Fetal anomalies v2.0 SURF1 Gene migrated from ENSG00000148290 to ENSG00000148290 (gene set migration)
Fetal anomalies v2.0 SLC52A2 Gene migrated from ENSG00000185803 to ENSG00000185803 (gene set migration)
Fetal anomalies v2.0 SLC52A3 Gene migrated from ENSG00000101276 to ENSG00000101276 (gene set migration)
Fetal anomalies v2.0 SLC4A4 Gene migrated from ENSG00000080493 to ENSG00000080493 (gene set migration)
Fetal anomalies v2.0 GALC Gene migrated from ENSG00000054983 to ENSG00000054983 (gene set migration)
Fetal anomalies v2.0 SLC2A2 Gene migrated from ENSG00000163581 to ENSG00000163581 (gene set migration)
Fetal anomalies v2.0 SLC22A5 Gene migrated from ENSG00000197375 to ENSG00000197375 (gene set migration)
Fetal anomalies v2.0 TTC12 Gene migrated from ENSG00000149292 to ENSG00000149292 (gene set migration)
Fetal anomalies v2.0 PYROXD1 Gene migrated from ENSG00000121350 to ENSG00000121350 (gene set migration)
Fetal anomalies v2.0 SLC2A1 Gene migrated from ENSG00000117394 to ENSG00000117394 (gene set migration)
Fetal anomalies v2.0 SCO1 Gene migrated from ENSG00000133028 to ENSG00000133028 (gene set migration)
Fetal anomalies v2.0 PTH Gene migrated from ENSG00000152266 to ENSG00000152266 (gene set migration)
Fetal anomalies v2.0 POLR3B Gene migrated from ENSG00000013503 to ENSG00000013503 (gene set migration)
Fetal anomalies v2.0 BRWD1 Gene migrated from ENSG00000185658 to ENSG00000185658 (gene set migration)
Fetal anomalies v2.0 SCN7A Gene migrated from ENSG00000136546 to ENSG00000136546 (gene set migration)
Fetal anomalies v2.0 SDHAF1 Gene migrated from ENSG00000205138 to ENSG00000205138 (gene set migration)
Fetal anomalies v2.0 SCN8A Gene migrated from ENSG00000196876 to ENSG00000196876 (gene set migration)
Fetal anomalies v2.0 SCN1B Gene migrated from ENSG00000105711 to ENSG00000105711 (gene set migration)
Fetal anomalies v2.0 PRRT2 Gene migrated from ENSG00000167371 to ENSG00000167371 (gene set migration)
Fetal anomalies v2.0 PRSS12 Gene migrated from ENSG00000164099 to ENSG00000164099 (gene set migration)
Fetal anomalies v2.0 PFKM Gene migrated from ENSG00000152556 to ENSG00000152556 (gene set migration)
Fetal anomalies v2.0 PPT1 Gene migrated from ENSG00000131238 to ENSG00000131238 (gene set migration)
Fetal anomalies v2.0 NUP62 Gene migrated from ENSG00000213024 to ENSG00000213024 (gene set migration)
Fetal anomalies v2.0 FEZF1 Gene migrated from ENSG00000128610 to ENSG00000128610 (gene set migration)
Fetal anomalies v2.0 NTRK2 Gene migrated from ENSG00000148053 to ENSG00000148053 (gene set migration)
Fetal anomalies v2.0 NEXMIF Gene migrated from ENSG00000050030 to ENSG00000050030 (gene set migration)
Fetal anomalies v2.0 PLP1 Gene migrated from ENSG00000123560 to ENSG00000123560 (gene set migration)
Fetal anomalies v2.0 NHP2 Gene migrated from ENSG00000145912 to ENSG00000145912 (gene set migration)
Fetal anomalies v2.0 PDSS2 Gene migrated from ENSG00000164494 to ENSG00000164494 (gene set migration)
Fetal anomalies v2.0 ADAR Gene migrated from ENSG00000160710 to ENSG00000160710 (gene set migration)
Fetal anomalies v2.0 NT5C3A Gene migrated from ENSG00000122643 to ENSG00000122643 (gene set migration)
Fetal anomalies v2.0 NDUFS4 Gene migrated from ENSG00000164258 to ENSG00000164258 (gene set migration)
Fetal anomalies v2.0 FOLR1 Gene migrated from ENSG00000110195 to ENSG00000110195 (gene set migration)
Fetal anomalies v2.0 NDUFS1 Gene migrated from ENSG00000023228 to ENSG00000023228 (gene set migration)
Fetal anomalies v2.0 NDUFA1 Gene migrated from ENSG00000125356 to ENSG00000125356 (gene set migration)
Fetal anomalies v2.0 AGMO Gene migrated from ENSG00000187546 to ENSG00000187546 (gene set migration)
Fetal anomalies v2.0 ALDH1B1 Gene migrated from ENSG00000137124 to ENSG00000137124 (gene set migration)
Fetal anomalies v2.0 MPI Gene migrated from ENSG00000178802 to ENSG00000178802 (gene set migration)
Fetal anomalies v2.0 MAOA Gene migrated from ENSG00000189221 to ENSG00000189221 (gene set migration)
Fetal anomalies v2.0 LTBP2 Gene migrated from ENSG00000119681 to ENSG00000119681 (gene set migration)
Fetal anomalies v2.0 MAN2B1 Gene migrated from ENSG00000104774 to ENSG00000104774 (gene set migration)
Fetal anomalies v2.0 LDB3 Gene migrated from ENSG00000122367 to ENSG00000122367 (gene set migration)
Fetal anomalies v2.0 LRBA Gene migrated from ENSG00000198589 to ENSG00000198589 (gene set migration)
Fetal anomalies v2.0 IRX4 Gene migrated from ENSG00000113430 to ENSG00000113430 (gene set migration)
Fetal anomalies v2.0 KISS1R Gene migrated from ENSG00000116014 to ENSG00000116014 (gene set migration)
Fetal anomalies v2.0 KRT74 Gene migrated from ENSG00000170484 to ENSG00000170484 (gene set migration)
Fetal anomalies v2.0 KCNT1 Gene migrated from ENSG00000107147 to ENSG00000107147 (gene set migration)
Fetal anomalies v2.0 KCNJ10 Gene migrated from ENSG00000177807 to ENSG00000177807 (gene set migration)
Fetal anomalies v2.0 KCNQ5 Gene migrated from ENSG00000185760 to ENSG00000185760 (gene set migration)
Fetal anomalies v2.0 KCNJ6 Gene migrated from ENSG00000157542 to ENSG00000157542 (gene set migration)
Fetal anomalies v2.0 GNB5 Gene migrated from ENSG00000069966 to ENSG00000069966 (gene set migration)
Fetal anomalies v2.0 KCNC3 Gene migrated from ENSG00000131398 to ENSG00000131398 (gene set migration)
Fetal anomalies v2.0 KARS1 Gene symbol changed from KARS to KARS1 during gene set migration (ENSG00000065427 -> ENSG00000065427)
Fetal anomalies v2.0 MUC3A Gene migrated from ENSG00000169894 to ENSG00000169894 (gene set migration)
Fetal anomalies v2.0 HOXB1 Gene migrated from ENSG00000120094 to ENSG00000120094 (gene set migration)
Fetal anomalies v2.0 CCDC57 Gene migrated from ENSG00000176155 to ENSG00000176155 (gene set migration)
Fetal anomalies v2.0 IGSF1 Gene migrated from ENSG00000147255 to ENSG00000147255 (gene set migration)
Fetal anomalies v2.0 ETV2 Gene migrated from ENSG00000105672 to ENSG00000105672 (gene set migration)
Fetal anomalies v2.0 LHX4 Gene migrated from ENSG00000121454 to ENSG00000121454 (gene set migration)
Fetal anomalies v2.0 GRM1 Gene migrated from ENSG00000152822 to ENSG00000152822 (gene set migration)
Fetal anomalies v2.0 HECW2 Gene migrated from ENSG00000138411 to ENSG00000138411 (gene set migration)
Fetal anomalies v2.0 GRIN2D Gene migrated from ENSG00000105464 to ENSG00000105464 (gene set migration)
Fetal anomalies v2.0 GTF2E2 Gene migrated from ENSG00000197265 to ENSG00000197265 (gene set migration)
Fetal anomalies v2.0 GNAQ Gene migrated from ENSG00000156052 to ENSG00000156052 (gene set migration)
Fetal anomalies v2.0 GABRG2 Gene migrated from ENSG00000113327 to ENSG00000113327 (gene set migration)
Fetal anomalies v2.0 GRIN2A Gene migrated from ENSG00000183454 to ENSG00000183454 (gene set migration)
Fetal anomalies v2.0 GABRA1 Gene migrated from ENSG00000022355 to ENSG00000022355 (gene set migration)
Fetal anomalies v2.0 H19 Gene migrated from ENSG00000130600 to ENSG00000130600 (gene set migration)
Fetal anomalies v2.0 FOXP2 Gene migrated from ENSG00000128573 to ENSG00000128573 (gene set migration)
Fetal anomalies v2.0 PEPD Gene migrated from ENSG00000124299 to ENSG00000124299 (gene set migration)
Fetal anomalies v2.0 GDI1 Gene migrated from ENSG00000203879 to ENSG00000203879 (gene set migration)
Fetal anomalies v2.0 GDF2 Gene migrated from ENSG00000263761 to ENSG00000263761 (gene set migration)
Fetal anomalies v2.0 EEF1A2 Gene migrated from ENSG00000101210 to ENSG00000101210 (gene set migration)
Fetal anomalies v2.0 CSTA Gene migrated from ENSG00000121552 to ENSG00000121552 (gene set migration)
Fetal anomalies v2.0 ITPR1 Gene migrated from ENSG00000150995 to ENSG00000150995 (gene set migration)
Fetal anomalies v2.0 ITGA7 Gene migrated from ENSG00000135424 to ENSG00000135424 (gene set migration)
Fetal anomalies v2.0 FANCM Gene migrated from ENSG00000187790 to ENSG00000187790 (gene set migration)
Fetal anomalies v2.0 ELMO2 Gene migrated from ENSG00000062598 to ENSG00000062598 (gene set migration)
Fetal anomalies v2.0 IQSEC2 Gene migrated from ENSG00000124313 to ENSG00000124313 (gene set migration)
Fetal anomalies v2.0 INTS8 Gene migrated from ENSG00000164941 to ENSG00000164941 (gene set migration)
Fetal anomalies v2.0 HYDIN Gene migrated from ENSG00000157423 to ENSG00000157423 (gene set migration)
Fetal anomalies v2.0 HYAL1 Gene migrated from ENSG00000114378 to ENSG00000114378 (gene set migration)
Fetal anomalies v2.0 DSTYK Gene migrated from ENSG00000133059 to ENSG00000133059 (gene set migration)
Fetal anomalies v2.0 DNM2 Gene migrated from ENSG00000079805 to ENSG00000079805 (gene set migration)
Fetal anomalies v2.0 DDOST Gene migrated from ENSG00000244038 to ENSG00000244038 (gene set migration)
Fetal anomalies v2.0 ALDOA Gene migrated from ENSG00000149925 to ENSG00000149925 (gene set migration)
Fetal anomalies v2.0 EFNA4 Gene migrated from ENSG00000243364 to ENSG00000243364 (gene set migration)
Fetal anomalies v2.0 DNAJC12 Gene migrated from ENSG00000108176 to ENSG00000108176 (gene set migration)
Fetal anomalies v2.0 FGF12 Gene migrated from ENSG00000114279 to ENSG00000114279 (gene set migration)
Fetal anomalies v2.0 HPGD Gene migrated from ENSG00000164120 to ENSG00000164120 (gene set migration)
Fetal anomalies v2.0 HNRNPU Gene migrated from ENSG00000153187 to ENSG00000153187 (gene set migration)
Fetal anomalies v2.0 HADH Gene migrated from ENSG00000138796 to ENSG00000138796 (gene set migration)
Fetal anomalies v2.0 FAH Gene migrated from ENSG00000103876 to ENSG00000103876 (gene set migration)
Fetal anomalies v2.0 FERMT3 Gene migrated from ENSG00000149781 to ENSG00000149781 (gene set migration)
Fetal anomalies v2.0 GLMN Gene migrated from ENSG00000174842 to ENSG00000174842 (gene set migration)
Fetal anomalies v2.0 ERMARD Gene migrated from ENSG00000130023 to ENSG00000130023 (gene set migration)
Fetal anomalies v2.0 CYP4F22 Gene migrated from ENSG00000171954 to ENSG00000171954 (gene set migration)
Fetal anomalies v2.0 GLUD1 Gene migrated from ENSG00000148672 to ENSG00000148672 (gene set migration)
Fetal anomalies v2.0 GK Gene migrated from ENSG00000198814 to ENSG00000198814 (gene set migration)
Fetal anomalies v2.0 GPT2 Gene migrated from ENSG00000166123 to ENSG00000166123 (gene set migration)
Fetal anomalies v2.0 CHKA Gene migrated from ENSG00000110721 to ENSG00000110721 (gene set migration)
Fetal anomalies v2.0 EOMES Gene migrated from ENSG00000163508 to ENSG00000163508 (gene set migration)
Fetal anomalies v2.0 CNKSR2 Gene migrated from ENSG00000149970 to ENSG00000149970 (gene set migration)
Fetal anomalies v2.0 CNBP Gene migrated from ENSG00000169714 to ENSG00000169714 (gene set migration)
Fetal anomalies v2.0 NRXN2 Gene migrated from ENSG00000110076 to ENSG00000110076 (gene set migration)
Fetal anomalies v2.0 BMPR2 Gene migrated from ENSG00000204217 to ENSG00000204217 (gene set migration)
Fetal anomalies v2.0 DRC4 Gene symbol changed from GAS8 to DRC4 during gene set migration (ENSG00000141013 -> ENSG00000141013)
Fetal anomalies v2.0 PROP1 Gene migrated from ENSG00000175325 to ENSG00000175325 (gene set migration)
Fetal anomalies v2.0 GAMT Gene migrated from ENSG00000130005 to ENSG00000130005 (gene set migration)
Fetal anomalies v2.0 FLRT3 Gene migrated from ENSG00000125848 to ENSG00000125848 (gene set migration)
Fetal anomalies v2.0 FLAD1 Gene migrated from ENSG00000160688 to ENSG00000160688 (gene set migration)
Fetal anomalies v2.0 LMBRD1 Gene migrated from ENSG00000168216 to ENSG00000168216 (gene set migration)
Fetal anomalies v2.0 LHX3 Gene migrated from ENSG00000107187 to ENSG00000107187 (gene set migration)
Fetal anomalies v2.0 DHFR Gene migrated from ENSG00000228716 to ENSG00000228716 (gene set migration)
Fetal anomalies v2.0 CFL2 Gene migrated from ENSG00000165410 to ENSG00000165410 (gene set migration)
Fetal anomalies v2.0 L2HGDH Gene migrated from ENSG00000087299 to ENSG00000087299 (gene set migration)
Fetal anomalies v2.0 EGR2 Gene migrated from ENSG00000122877 to ENSG00000122877 (gene set migration)
Fetal anomalies v2.0 DLAT Gene migrated from ENSG00000150768 to ENSG00000150768 (gene set migration)
Fetal anomalies v2.0 DLD Gene migrated from ENSG00000091140 to ENSG00000091140 (gene set migration)
Fetal anomalies v2.0 DNAH8 Gene migrated from ENSG00000124721 to ENSG00000124721 (gene set migration)
Fetal anomalies v2.0 HEXA Gene migrated from ENSG00000213614 to ENSG00000213614 (gene set migration)
Fetal anomalies v2.0 FOXR1 Gene migrated from ENSG00000176302 to ENSG00000176302 (gene set migration)
Fetal anomalies v2.0 DHH Gene migrated from ENSG00000139549 to ENSG00000139549 (gene set migration)
Fetal anomalies v2.0 ATP13A2 Gene migrated from ENSG00000159363 to ENSG00000159363 (gene set migration)
Fetal anomalies v2.0 CD151 Gene migrated from ENSG00000177697 to ENSG00000177697 (gene set migration)
Fetal anomalies v2.0 CD96 Gene migrated from ENSG00000153283 to ENSG00000153283 (gene set migration)
Fetal anomalies v2.0 DDHD2 Gene migrated from ENSG00000085788 to ENSG00000085788 (gene set migration)
Fetal anomalies v2.0 FDXR Gene migrated from ENSG00000161513 to ENSG00000161513 (gene set migration)
Fetal anomalies v2.0 MFRP Gene migrated from ENSG00000235718 to ENSG00000235718 (gene set migration)
Fetal anomalies v2.0 DDHD1 Gene migrated from ENSG00000100523 to ENSG00000100523 (gene set migration)
Fetal anomalies v2.0 CCDC78 Gene migrated from ENSG00000162004 to ENSG00000162004 (gene set migration)
Fetal anomalies v2.0 DDC Gene migrated from ENSG00000132437 to ENSG00000132437 (gene set migration)
Fetal anomalies v2.0 TRIP12 Gene migrated from ENSG00000153827 to ENSG00000153827 (gene set migration)
Fetal anomalies v2.0 CASR Gene migrated from ENSG00000036828 to ENSG00000036828 (gene set migration)
Fetal anomalies v2.0 HOXB6 Gene migrated from ENSG00000108511 to ENSG00000108511 (gene set migration)
Fetal anomalies v2.0 CARS2 Gene migrated from ENSG00000134905 to ENSG00000134905 (gene set migration)
Fetal anomalies v2.0 CPS1 Gene migrated from ENSG00000021826 to ENSG00000021826 (gene set migration)
Fetal anomalies v2.0 CAMK2A Gene migrated from ENSG00000070808 to ENSG00000070808 (gene set migration)
Fetal anomalies v2.0 CAMTA1 Gene migrated from ENSG00000171735 to ENSG00000171735 (gene set migration)
Fetal anomalies v2.0 IQCB1 Gene migrated from ENSG00000173226 to ENSG00000173226 (gene set migration)
Fetal anomalies v2.0 CA5A Gene migrated from ENSG00000174990 to ENSG00000174990 (gene set migration)
Fetal anomalies v2.0 CACNA1A Gene migrated from ENSG00000141837 to ENSG00000141837 (gene set migration)
Fetal anomalies v2.0 COX6B1 Gene migrated from ENSG00000126267 to ENSG00000126267 (gene set migration)
Fetal anomalies v2.0 DRC2 Gene symbol changed from CCDC65 to DRC2 during gene set migration (ENSG00000139537 -> ENSG00000139537)
Fetal anomalies v2.0 ACVR2B Gene migrated from ENSG00000114739 to ENSG00000114739 (gene set migration)
Fetal anomalies v2.0 CC2D1A Gene migrated from ENSG00000132024 to ENSG00000132024 (gene set migration)
Fetal anomalies v2.0 CBS Gene migrated from ENSG00000160200 to ENSG00000160200 (gene set migration)
Fetal anomalies v2.0 BLOC1S6 Gene migrated from ENSG00000104164 to ENSG00000104164 (gene set migration)
Fetal anomalies v2.0 BANF1 Gene migrated from ENSG00000175334 to ENSG00000175334 (gene set migration)
Fetal anomalies v2.0 KIF26B Gene migrated from ENSG00000162849 to ENSG00000162849 (gene set migration)
Fetal anomalies v2.0 CAVIN1 Gene migrated from ENSG00000177469 to ENSG00000177469 (gene set migration)
Fetal anomalies v2.0 CALCRL Gene migrated from ENSG00000064989 to ENSG00000064989 (gene set migration)
Fetal anomalies v2.0 CAD Gene migrated from ENSG00000084774 to ENSG00000084774 (gene set migration)
Fetal anomalies v2.0 AIPL1 Gene migrated from ENSG00000129221 to ENSG00000129221 (gene set migration)
Fetal anomalies v2.0 DBT Gene migrated from ENSG00000137992 to ENSG00000137992 (gene set migration)
Fetal anomalies v2.0 ATP6V1B1 Gene migrated from ENSG00000116039 to ENSG00000116039 (gene set migration)
Fetal anomalies v2.0 ATM Gene migrated from ENSG00000149311 to ENSG00000149311 (gene set migration)
Fetal anomalies v2.0 ASL Gene migrated from ENSG00000126522 to ENSG00000126522 (gene set migration)
Fetal anomalies v2.0 EMD Gene migrated from ENSG00000102119 to ENSG00000102119 (gene set migration)
Fetal anomalies v2.0 ARG1 Gene migrated from ENSG00000118520 to ENSG00000118520 (gene set migration)
Fetal anomalies v2.0 COA8 Gene symbol changed from APOPT1 to COA8 during gene set migration (ENSG00000256053 -> ENSG00000256053)
Fetal anomalies v2.0 ALDH4A1 Gene migrated from ENSG00000159423 to ENSG00000159423 (gene set migration)
Fetal anomalies v2.0 ALAD Gene migrated from ENSG00000148218 to ENSG00000148218 (gene set migration)
Fetal anomalies v2.0 AK2 Gene migrated from ENSG00000004455 to ENSG00000004455 (gene set migration)
Fetal anomalies v2.0 AKR1D1 Gene migrated from ENSG00000122787 to ENSG00000122787 (gene set migration)
Fetal anomalies v2.0 AIRE Gene migrated from ENSG00000160224 to ENSG00000160224 (gene set migration)
Fetal anomalies v2.0 AGXT Gene migrated from ENSG00000172482 to ENSG00000172482 (gene set migration)
Fetal anomalies v2.0 ANKRD26 Gene migrated from ENSG00000107890 to ENSG00000107890 (gene set migration)
Fetal anomalies v2.0 AMMECR1 Gene migrated from ENSG00000101935 to ENSG00000101935 (gene set migration)
Fetal anomalies v2.0 FGF17 Gene migrated from ENSG00000158815 to ENSG00000158815 (gene set migration)
Fetal anomalies v2.0 IL1RAPL1 Gene migrated from ENSG00000169306 to ENSG00000169306 (gene set migration)
Fetal anomalies v2.0 ALDOB Gene migrated from ENSG00000136872 to ENSG00000136872 (gene set migration)
Fetal anomalies v2.0 ALOXE3 Gene migrated from ENSG00000179148 to ENSG00000179148 (gene set migration)
Fetal anomalies v2.0 CYC1 Gene migrated from ENSG00000179091 to ENSG00000179091 (gene set migration)
Fetal anomalies v2.0 ALOX12B Gene migrated from ENSG00000179477 to ENSG00000179477 (gene set migration)
Fetal anomalies v2.0 AMACR Gene migrated from ENSG00000242110 to ENSG00000242110 (gene set migration)
Fetal anomalies v2.0 AGPAT2 Gene migrated from ENSG00000169692 to ENSG00000169692 (gene set migration)
Fetal anomalies v2.0 AGA Gene migrated from ENSG00000038002 to ENSG00000038002 (gene set migration)
Fetal anomalies v2.0 AFF2 Gene migrated from ENSG00000155966 to ENSG00000155966 (gene set migration)
Fetal anomalies v2.0 CLUAP1 Gene migrated from ENSG00000103351 to ENSG00000103351 (gene set migration)
Fetal anomalies v2.0 ACAT1 Gene migrated from ENSG00000075239 to ENSG00000075239 (gene set migration)
Fetal anomalies v2.0 ABCC8 Gene migrated from ENSG00000006071 to ENSG00000006071 (gene set migration)
Fetal anomalies v2.0 CERS3 Gene migrated from ENSG00000154227 to ENSG00000154227 (gene set migration)
Fetal anomalies v2.0 ABCB7 Gene migrated from ENSG00000131269 to ENSG00000131269 (gene set migration)
Fetal anomalies v2.0 ABCB11 Gene migrated from ENSG00000073734 to ENSG00000073734 (gene set migration)
Fetal anomalies v2.0 ZMYND11 Gene migrated from ENSG00000015171 to ENSG00000015171 (gene set migration)
Fetal anomalies v2.0 AASS Gene migrated from ENSG00000008311 to ENSG00000008311 (gene set migration)
Fetal anomalies v2.0 GNPTG Gene migrated from ENSG00000090581 to ENSG00000090581 (gene set migration)
Fetal anomalies v2.0 XPC Gene migrated from ENSG00000154767 to ENSG00000154767 (gene set migration)
Fetal anomalies v2.0 WNT3 Gene migrated from ENSG00000108379 to ENSG00000108379 (gene set migration)
Fetal anomalies v2.0 RPH3A Gene migrated from ENSG00000089169 to ENSG00000089169 (gene set migration)
Fetal anomalies v2.0 ALG2 Gene migrated from ENSG00000119523 to ENSG00000119523 (gene set migration)
Fetal anomalies v2.0 USP27X Gene migrated from ENSG00000273820 to ENSG00000273820 (gene set migration)
Fetal anomalies v2.0 CA8 Gene migrated from ENSG00000178538 to ENSG00000178538 (gene set migration)
Fetal anomalies v2.0 ZNF711 Gene migrated from ENSG00000147180 to ENSG00000147180 (gene set migration)
Fetal anomalies v2.0 ZNF3 Gene migrated from ENSG00000166526 to ENSG00000166526 (gene set migration)
Fetal anomalies v2.0 UBA5 Gene migrated from ENSG00000081307 to ENSG00000081307 (gene set migration)
Fetal anomalies v2.0 SLC9A6 Gene migrated from ENSG00000198689 to ENSG00000198689 (gene set migration)
Fetal anomalies v2.0 UQCRQ Gene migrated from ENSG00000164405 to ENSG00000164405 (gene set migration)
Fetal anomalies v2.0 BTD Gene migrated from ENSG00000169814 to ENSG00000169814 (gene set migration)
Fetal anomalies v2.0 UQCRB Gene migrated from ENSG00000156467 to ENSG00000156467 (gene set migration)
Fetal anomalies v2.0 MANBA Gene migrated from ENSG00000109323 to ENSG00000109323 (gene set migration)
Fetal anomalies v2.0 UBTF Gene migrated from ENSG00000108312 to ENSG00000108312 (gene set migration)
Fetal anomalies v2.0 COPB1 Gene migrated from ENSG00000129083 to ENSG00000129083 (gene set migration)
Fetal anomalies v2.0 TSEN34 Gene migrated from ENSG00000170892 to ENSG00000170892 (gene set migration)
Fetal anomalies v2.0 LAMA5 Gene migrated from ENSG00000130702 to ENSG00000130702 (gene set migration)
Fetal anomalies v2.0 FRRS1L Gene migrated from ENSG00000260230 to ENSG00000260230 (gene set migration)
Fetal anomalies v2.0 TMBIM4 Gene migrated from ENSG00000155957 to ENSG00000155957 (gene set migration)
Fetal anomalies v2.0 WRAP53 Gene migrated from ENSG00000141499 to ENSG00000141499 (gene set migration)
Fetal anomalies v2.0 EMX2 Gene migrated from ENSG00000170370 to ENSG00000170370 (gene set migration)
Fetal anomalies v2.0 MTRFR Gene symbol changed from C12orf65 to MTRFR during gene set migration (ENSG00000130921 -> ENSG00000130921)
Fetal anomalies v2.0 FMN2 Gene migrated from ENSG00000155816 to ENSG00000155816 (gene set migration)
Fetal anomalies v2.0 SEPTIN9 Gene symbol changed from SEPT9 to SEPTIN9 during gene set migration (ENSG00000184640 -> ENSG00000184640)
Fetal anomalies v2.0 UNC13A Gene migrated from ENSG00000130477 to ENSG00000130477 (gene set migration)
Fetal anomalies v2.0 ENO1 Gene migrated from ENSG00000074800 to ENSG00000074800 (gene set migration)
Fetal anomalies v2.0 LYST Gene migrated from ENSG00000143669 to ENSG00000143669 (gene set migration)
Fetal anomalies v2.0 METTL23 Gene migrated from ENSG00000181038 to ENSG00000181038 (gene set migration)
Fetal anomalies v2.0 ALDH7A1 Gene migrated from ENSG00000164904 to ENSG00000164904 (gene set migration)
Fetal anomalies v2.0 GBA2 Gene migrated from ENSG00000070610 to ENSG00000070610 (gene set migration)
Fetal anomalies v2.0 ALDH3A2 Gene migrated from ENSG00000072210 to ENSG00000072210 (gene set migration)
Fetal anomalies v2.0 PSMB8 Gene migrated from ENSG00000204264 to ENSG00000204264 (gene set migration)
Fetal anomalies v2.0 AGL Gene migrated from ENSG00000162688 to ENSG00000162688 (gene set migration)
Fetal anomalies v2.0 ADAMTS9 Gene migrated from ENSG00000163638 to ENSG00000163638 (gene set migration)
Fetal anomalies v2.0 TACO1 Gene migrated from ENSG00000136463 to ENSG00000136463 (gene set migration)
Fetal anomalies v2.0 STX1B Gene migrated from ENSG00000099365 to ENSG00000099365 (gene set migration)
Fetal anomalies v2.0 SERPINA11 Gene migrated from ENSG00000186910 to ENSG00000186910 (gene set migration)
Fetal anomalies v2.0 CERT1 Gene symbol changed from COL4A3BP to CERT1 during gene set migration (ENSG00000113163 -> ENSG00000113163)
Fetal anomalies v2.0 ST3GAL5 Gene migrated from ENSG00000115525 to ENSG00000115525 (gene set migration)
Fetal anomalies v2.0 SLC25A1 Gene migrated from ENSG00000100075 to ENSG00000100075 (gene set migration)
Fetal anomalies v2.0 SOX5 Gene migrated from ENSG00000134532 to ENSG00000134532 (gene set migration)
Fetal anomalies v2.0 WAC Gene migrated from ENSG00000095787 to ENSG00000095787 (gene set migration)
Fetal anomalies v2.0 WDR45 Gene migrated from ENSG00000196998 to ENSG00000196998 (gene set migration)
Fetal anomalies v2.0 COPB2 Gene migrated from ENSG00000184432 to ENSG00000184432 (gene set migration)
Fetal anomalies v2.0 CTNS Gene migrated from ENSG00000040531 to ENSG00000040531 (gene set migration)
Fetal anomalies v2.0 UPF3B Gene migrated from ENSG00000125351 to ENSG00000125351 (gene set migration)
Fetal anomalies v2.0 UFC1 Gene migrated from ENSG00000143222 to ENSG00000143222 (gene set migration)
Fetal anomalies v2.0 ADA Gene migrated from ENSG00000196839 to ENSG00000196839 (gene set migration)
Fetal anomalies v2.0 SLC45A1 Gene migrated from ENSG00000162426 to ENSG00000162426 (gene set migration)
Fetal anomalies v2.0 UBE2A Gene migrated from ENSG00000077721 to ENSG00000077721 (gene set migration)
Fetal anomalies v2.0 AUH Gene migrated from ENSG00000148090 to ENSG00000148090 (gene set migration)
Fetal anomalies v2.0 AMOT Gene migrated from ENSG00000126016 to ENSG00000126016 (gene set migration)
Fetal anomalies v2.0 SHANK2 Gene migrated from ENSG00000162105 to ENSG00000162105 (gene set migration)
Fetal anomalies v2.0 SGCG Gene migrated from ENSG00000102683 to ENSG00000102683 (gene set migration)
Fetal anomalies v2.0 SETD1A Gene migrated from ENSG00000099381 to ENSG00000099381 (gene set migration)
Fetal anomalies v2.0 UBE3A Gene migrated from ENSG00000114062 to ENSG00000114062 (gene set migration)
Fetal anomalies v2.0 SET Gene migrated from ENSG00000119335 to ENSG00000119335 (gene set migration)
Fetal anomalies v2.0 TBL1X Gene migrated from ENSG00000101849 to ENSG00000101849 (gene set migration)
Fetal anomalies v2.0 SERPINF1 Gene migrated from ENSG00000132386 to ENSG00000132386 (gene set migration)
Fetal anomalies v2.0 PAK2 Gene migrated from ENSG00000180370 to ENSG00000180370 (gene set migration)
Fetal anomalies v2.0 TUSC3 Gene migrated from ENSG00000104723 to ENSG00000104723 (gene set migration)
Fetal anomalies v2.0 SECISBP2 Gene migrated from ENSG00000187742 to ENSG00000187742 (gene set migration)
Fetal anomalies v2.0 TTC19 Gene migrated from ENSG00000011295 to ENSG00000011295 (gene set migration)
Fetal anomalies v2.0 TSPAN7 Gene migrated from ENSG00000156298 to ENSG00000156298 (gene set migration)
Fetal anomalies v2.0 TGFB1 Gene migrated from ENSG00000105329 to ENSG00000105329 (gene set migration)
Fetal anomalies v2.0 RSPH9 Gene migrated from ENSG00000172426 to ENSG00000172426 (gene set migration)
Fetal anomalies v2.0 SACS Gene migrated from ENSG00000151835 to ENSG00000151835 (gene set migration)
Fetal anomalies v2.0 TRPS1 Gene migrated from ENSG00000104447 to ENSG00000104447 (gene set migration)
Fetal anomalies v2.0 ASS1 Gene migrated from ENSG00000130707 to ENSG00000130707 (gene set migration)
Fetal anomalies v2.0 TEK Gene migrated from ENSG00000120156 to ENSG00000120156 (gene set migration)
Fetal anomalies v2.0 SLC26A7 Gene migrated from ENSG00000147606 to ENSG00000147606 (gene set migration)
Fetal anomalies v2.0 RAB33B Gene migrated from ENSG00000172007 to ENSG00000172007 (gene set migration)
Fetal anomalies v2.0 TBXAS1 Gene migrated from ENSG00000059377 to ENSG00000059377 (gene set migration)
Fetal anomalies v2.0 TCN2 Gene migrated from ENSG00000185339 to ENSG00000185339 (gene set migration)
Fetal anomalies v2.0 STAG1 Gene migrated from ENSG00000118007 to ENSG00000118007 (gene set migration)
Fetal anomalies v2.0 CFAP74 Gene migrated from ENSG00000142609 to ENSG00000142609 (gene set migration)
Fetal anomalies v2.0 SPTBN5 Gene migrated from ENSG00000137877 to ENSG00000137877 (gene set migration)
Fetal anomalies v2.0 PYCR2 Gene migrated from ENSG00000143811 to ENSG00000143811 (gene set migration)
Fetal anomalies v2.0 SPTBN2 Gene migrated from ENSG00000173898 to ENSG00000173898 (gene set migration)
Fetal anomalies v2.0 FAP Gene migrated from ENSG00000078098 to ENSG00000078098 (gene set migration)
Fetal anomalies v2.0 SP110 Gene migrated from ENSG00000135899 to ENSG00000135899 (gene set migration)
Fetal anomalies v2.0 SLC26A4 Gene migrated from ENSG00000091137 to ENSG00000091137 (gene set migration)
Fetal anomalies v2.0 SPRED1 Gene migrated from ENSG00000166068 to ENSG00000166068 (gene set migration)
Fetal anomalies v2.0 LAMA3 Gene migrated from ENSG00000053747 to ENSG00000053747 (gene set migration)
Fetal anomalies v2.0 SLC46A1 Gene migrated from ENSG00000076351 to ENSG00000076351 (gene set migration)
Fetal anomalies v2.0 SLC39A13 Gene migrated from ENSG00000165915 to ENSG00000165915 (gene set migration)
Fetal anomalies v2.0 PLCB1 Gene migrated from ENSG00000182621 to ENSG00000182621 (gene set migration)
Fetal anomalies v2.0 SGMS2 Gene migrated from ENSG00000164023 to ENSG00000164023 (gene set migration)
Fetal anomalies v2.0 SIX1 Gene migrated from ENSG00000126778 to ENSG00000126778 (gene set migration)
Fetal anomalies v2.0 SIM1 Gene migrated from ENSG00000112246 to ENSG00000112246 (gene set migration)
Fetal anomalies v2.0 MAT1A Gene migrated from ENSG00000151224 to ENSG00000151224 (gene set migration)
Fetal anomalies v2.0 PYGM Gene migrated from ENSG00000068976 to ENSG00000068976 (gene set migration)
Fetal anomalies v2.0 GAS2L2 Gene migrated from ENSG00000270765 to ENSG00000270765 (gene set migration)
Fetal anomalies v2.0 PDE10A Gene migrated from ENSG00000112541 to ENSG00000112541 (gene set migration)
Fetal anomalies v2.0 POLG2 Gene migrated from ENSG00000256525 to ENSG00000256525 (gene set migration)
Fetal anomalies v2.0 IYD Gene migrated from ENSG00000009765 to ENSG00000009765 (gene set migration)
Fetal anomalies v2.0 PDSS1 Gene migrated from ENSG00000148459 to ENSG00000148459 (gene set migration)
Fetal anomalies v2.0 IRS4 Gene migrated from ENSG00000133124 to ENSG00000133124 (gene set migration)
Fetal anomalies v2.0 NUF2 Gene migrated from ENSG00000143228 to ENSG00000143228 (gene set migration)
Fetal anomalies v2.0 GDF3 Gene migrated from ENSG00000184344 to ENSG00000184344 (gene set migration)
Fetal anomalies v2.0 SIK1 Gene migrated from ENSG00000142178 to ENSG00000142178 (gene set migration)
Fetal anomalies v2.0 DUOXA2 Gene migrated from ENSG00000140274 to ENSG00000140274 (gene set migration)
Fetal anomalies v2.0 PAX7 Gene migrated from ENSG00000009709 to ENSG00000009709 (gene set migration)
Fetal anomalies v2.0 DUOXA1 Gene migrated from ENSG00000140254 to ENSG00000140254 (gene set migration)
Fetal anomalies v2.0 DNAH6 Gene migrated from ENSG00000115423 to ENSG00000115423 (gene set migration)
Fetal anomalies v2.0 SELENON Gene migrated from ENSG00000162430 to ENSG00000162430 (gene set migration)
Fetal anomalies v2.0 SGCA Gene migrated from ENSG00000108823 to ENSG00000108823 (gene set migration)
Fetal anomalies v2.0 DUOX2 Gene migrated from ENSG00000140279 to ENSG00000140279 (gene set migration)
Fetal anomalies v2.0 DUOX1 Gene migrated from ENSG00000137857 to ENSG00000137857 (gene set migration)
Fetal anomalies v2.0 QSER1 Gene migrated from ENSG00000060749 to ENSG00000060749 (gene set migration)
Fetal anomalies v2.0 RSPH1 Gene migrated from ENSG00000160188 to ENSG00000160188 (gene set migration)
Fetal anomalies v2.0 RSPH3 Gene migrated from ENSG00000130363 to ENSG00000130363 (gene set migration)
Fetal anomalies v2.0 G6PD Gene migrated from ENSG00000160211 to ENSG00000160211 (gene set migration)
Fetal anomalies v2.0 SCYL1 Gene migrated from ENSG00000142186 to ENSG00000142186 (gene set migration)
Fetal anomalies v2.0 NKX6-2 Gene migrated from ENSG00000148826 to ENSG00000148826 (gene set migration)
Fetal anomalies v2.0 GNA11 Gene migrated from ENSG00000088256 to ENSG00000088256 (gene set migration)
Fetal anomalies v2.0 CFAP57 Gene migrated from ENSG00000243710 to ENSG00000243710 (gene set migration)
Fetal anomalies v2.0 NDUFAF2 Gene migrated from ENSG00000164182 to ENSG00000164182 (gene set migration)
Fetal anomalies v2.0 RAB39B Gene migrated from ENSG00000155961 to ENSG00000155961 (gene set migration)
Fetal anomalies v2.0 NAXE Gene migrated from ENSG00000163382 to ENSG00000163382 (gene set migration)
Fetal anomalies v2.0 CDCA8 Gene migrated from ENSG00000134690 to ENSG00000134690 (gene set migration)
Fetal anomalies v2.0 NAGLU Gene migrated from ENSG00000108784 to ENSG00000108784 (gene set migration)
Fetal anomalies v2.0 MYPN Gene migrated from ENSG00000138347 to ENSG00000138347 (gene set migration)
Fetal anomalies v2.0 CFAP43 Gene migrated from ENSG00000197748 to ENSG00000197748 (gene set migration)
Fetal anomalies v2.0 PPM1D Gene migrated from ENSG00000170836 to ENSG00000170836 (gene set migration)
Fetal anomalies v2.0 PPA2 Gene migrated from ENSG00000138777 to ENSG00000138777 (gene set migration)
Fetal anomalies v2.0 ADD3 Gene migrated from ENSG00000148700 to ENSG00000148700 (gene set migration)
Fetal anomalies v2.0 RAB11A Gene migrated from ENSG00000103769 to ENSG00000103769 (gene set migration)
Fetal anomalies v2.0 RRM2B Gene migrated from ENSG00000048392 to ENSG00000048392 (gene set migration)
Fetal anomalies v2.0 NR2F1 Gene migrated from ENSG00000175745 to ENSG00000175745 (gene set migration)
Fetal anomalies v2.0 NGLY1 Gene migrated from ENSG00000151092 to ENSG00000151092 (gene set migration)
Fetal anomalies v2.0 MECR Gene migrated from ENSG00000116353 to ENSG00000116353 (gene set migration)
Fetal anomalies v2.0 NFU1 Gene migrated from ENSG00000169599 to ENSG00000169599 (gene set migration)
Fetal anomalies v2.0 MAN1B1 Gene migrated from ENSG00000177239 to ENSG00000177239 (gene set migration)
Fetal anomalies v2.0 NDUFV1 Gene migrated from ENSG00000167792 to ENSG00000167792 (gene set migration)
Fetal anomalies v2.0 NDUFS8 Gene migrated from ENSG00000110717 to ENSG00000110717 (gene set migration)
Fetal anomalies v2.0 LIPT2 Gene migrated from ENSG00000175536 to ENSG00000175536 (gene set migration)
Fetal anomalies v2.0 LIPT1 Gene migrated from ENSG00000144182 to ENSG00000144182 (gene set migration)
Fetal anomalies v2.0 LIAS Gene migrated from ENSG00000121897 to ENSG00000121897 (gene set migration)
Fetal anomalies v2.0 MYT1L Gene migrated from ENSG00000186487 to ENSG00000186487 (gene set migration)
Fetal anomalies v2.0 KMT2B Gene migrated from ENSG00000272333 to ENSG00000272333 (gene set migration)
Fetal anomalies v2.0 MYO5A Gene migrated from ENSG00000197535 to ENSG00000197535 (gene set migration)
Fetal anomalies v2.0 MIB1 Gene migrated from ENSG00000101752 to ENSG00000101752 (gene set migration)
Fetal anomalies v2.0 MYBPC2 Gene migrated from ENSG00000086967 to ENSG00000086967 (gene set migration)
Fetal anomalies v2.0 SIX5 Gene migrated from ENSG00000177045 to ENSG00000177045 (gene set migration)
Fetal anomalies v2.0 RASGRP2 Gene migrated from ENSG00000068831 to ENSG00000068831 (gene set migration)
Fetal anomalies v2.0 MECP2 Gene migrated from ENSG00000169057 to ENSG00000169057 (gene set migration)
Fetal anomalies v2.0 NUS1 Gene migrated from ENSG00000153989 to ENSG00000153989 (gene set migration)
Fetal anomalies v2.0 SPEF2 Gene migrated from ENSG00000152582 to ENSG00000152582 (gene set migration)
Fetal anomalies v2.0 ITCH Gene migrated from ENSG00000078747 to ENSG00000078747 (gene set migration)
Fetal anomalies v2.0 LAMP2 Gene migrated from ENSG00000005893 to ENSG00000005893 (gene set migration)
Fetal anomalies v2.0 KMT5B Gene migrated from ENSG00000110066 to ENSG00000110066 (gene set migration)
Fetal anomalies v2.0 IGFBP7 Gene migrated from ENSG00000163453 to ENSG00000163453 (gene set migration)
Fetal anomalies v2.0 PLEKHM1 Gene migrated from ENSG00000225190 to ENSG00000225190 (gene set migration)
Fetal anomalies v2.0 IDH1 Gene migrated from ENSG00000138413 to ENSG00000138413 (gene set migration)
Fetal anomalies v2.0 LEMD3 Gene migrated from ENSG00000174106 to ENSG00000174106 (gene set migration)
Fetal anomalies v2.0 HPD Gene migrated from ENSG00000158104 to ENSG00000158104 (gene set migration)
Fetal anomalies v2.0 HGSNAT Gene migrated from ENSG00000165102 to ENSG00000165102 (gene set migration)
Fetal anomalies v2.0 PHIP Gene migrated from ENSG00000146247 to ENSG00000146247 (gene set migration)
Fetal anomalies v2.0 LAMB3 Gene migrated from ENSG00000196878 to ENSG00000196878 (gene set migration)
Fetal anomalies v2.0 PCYT1A Gene migrated from ENSG00000161217 to ENSG00000161217 (gene set migration)
Fetal anomalies v2.0 CDC6 Gene migrated from ENSG00000094804 to ENSG00000094804 (gene set migration)
Fetal anomalies v2.0 KCTD7 Gene migrated from ENSG00000243335 to ENSG00000243335 (gene set migration)
Fetal anomalies v2.0 KCNQ3 Gene migrated from ENSG00000184156 to ENSG00000184156 (gene set migration)
Fetal anomalies v2.0 KCNQ2 Gene migrated from ENSG00000075043 to ENSG00000075043 (gene set migration)
Fetal anomalies v2.0 GPAA1 Gene migrated from ENSG00000197858 to ENSG00000197858 (gene set migration)
Fetal anomalies v2.0 GNAI1 Gene migrated from ENSG00000127955 to ENSG00000127955 (gene set migration)
Fetal anomalies v2.0 GNA14 Gene migrated from ENSG00000156049 to ENSG00000156049 (gene set migration)
Fetal anomalies v2.0 GMPPA Gene migrated from ENSG00000144591 to ENSG00000144591 (gene set migration)
Fetal anomalies v2.0 HEXB Gene migrated from ENSG00000049860 to ENSG00000049860 (gene set migration)
Fetal anomalies v2.0 GFPT1 Gene migrated from ENSG00000198380 to ENSG00000198380 (gene set migration)
Fetal anomalies v2.0 ARSA Gene migrated from ENSG00000100299 to ENSG00000100299 (gene set migration)
Fetal anomalies v2.0 GANAB Gene migrated from ENSG00000089597 to ENSG00000089597 (gene set migration)
Fetal anomalies v2.0 KBTBD13 Gene migrated from ENSG00000234438 to ENSG00000234438 (gene set migration)
Fetal anomalies v2.0 MCF2 Gene migrated from ENSG00000101977 to ENSG00000101977 (gene set migration)
Fetal anomalies v2.0 FOXL2 Gene migrated from ENSG00000183770 to ENSG00000183770 (gene set migration)
Fetal anomalies v2.0 ETHE1 Gene migrated from ENSG00000105755 to ENSG00000105755 (gene set migration)
Fetal anomalies v2.0 EXPH5 Gene migrated from ENSG00000110723 to ENSG00000110723 (gene set migration)
Fetal anomalies v2.0 SLIT2 Gene migrated from ENSG00000145147 to ENSG00000145147 (gene set migration)
Fetal anomalies v2.0 CHUK Gene migrated from ENSG00000213341 to ENSG00000213341 (gene set migration)
Fetal anomalies v2.0 PAX8 Gene migrated from ENSG00000125618 to ENSG00000125618 (gene set migration)
Fetal anomalies v2.0 SIX6 Gene migrated from ENSG00000184302 to ENSG00000184302 (gene set migration)
Fetal anomalies v2.0 FZD5 Gene migrated from ENSG00000163251 to ENSG00000163251 (gene set migration)
Fetal anomalies v2.0 ISLR2 Gene migrated from ENSG00000167178 to ENSG00000167178 (gene set migration)
Fetal anomalies v2.0 FRMD4A Gene migrated from ENSG00000151474 to ENSG00000151474 (gene set migration)
Fetal anomalies v2.0 DOLK Gene migrated from ENSG00000175283 to ENSG00000175283 (gene set migration)
Fetal anomalies v2.0 BOLA3 Gene migrated from ENSG00000163170 to ENSG00000163170 (gene set migration)
Fetal anomalies v2.0 GRHL2 Gene migrated from ENSG00000083307 to ENSG00000083307 (gene set migration)
Fetal anomalies v2.0 CAMK2B Gene migrated from ENSG00000058404 to ENSG00000058404 (gene set migration)
Fetal anomalies v2.0 ALG11 Gene migrated from ENSG00000253710 to ENSG00000253710 (gene set migration)
Fetal anomalies v2.0 VPS50 Gene migrated from ENSG00000004766 to ENSG00000004766 (gene set migration)
Fetal anomalies v2.0 NKX2-1 Gene migrated from ENSG00000136352 to ENSG00000136352 (gene set migration)
Fetal anomalies v2.0 EMG1 Gene migrated from ENSG00000126749 to ENSG00000126749 (gene set migration)
Fetal anomalies v2.0 TBL1XR1 Gene migrated from ENSG00000177565 to ENSG00000177565 (gene set migration)
Fetal anomalies v2.0 WDR26 Gene migrated from ENSG00000162923 to ENSG00000162923 (gene set migration)
Fetal anomalies v2.0 TNXB Gene migrated from ENSG00000168477 to ENSG00000168477 (gene set migration)
Fetal anomalies v2.0 TBR1 Gene migrated from ENSG00000136535 to ENSG00000136535 (gene set migration)
Fetal anomalies v2.0 GM2A Gene migrated from ENSG00000196743 to ENSG00000196743 (gene set migration)
Fetal anomalies v2.0 MCM7 Gene migrated from ENSG00000166508 to ENSG00000166508 (gene set migration)
Fetal anomalies v2.0 AIFM1 Gene migrated from ENSG00000156709 to ENSG00000156709 (gene set migration)
Fetal anomalies v2.0 TERT Gene migrated from ENSG00000164362 to ENSG00000164362 (gene set migration)
Fetal anomalies v2.0 NPC2 Gene migrated from ENSG00000119655 to ENSG00000119655 (gene set migration)
Fetal anomalies v2.0 SNX14 Gene migrated from ENSG00000135317 to ENSG00000135317 (gene set migration)
Fetal anomalies v2.0 GALNT2 Gene migrated from ENSG00000143641 to ENSG00000143641 (gene set migration)
Fetal anomalies v2.0 CEP63 Gene migrated from ENSG00000182923 to ENSG00000182923 (gene set migration)
Fetal anomalies v2.0 FZD6 Gene migrated from ENSG00000164930 to ENSG00000164930 (gene set migration)
Fetal anomalies v2.0 TBC1D7 Gene migrated from ENSG00000145979 to ENSG00000145979 (gene set migration)
Fetal anomalies v2.0 NR0B1 Gene migrated from ENSG00000169297 to ENSG00000169297 (gene set migration)
Fetal anomalies v2.0 OXR1 Gene migrated from ENSG00000164830 to ENSG00000164830 (gene set migration)
Fetal anomalies v2.0 FOXP4 Gene migrated from ENSG00000137166 to ENSG00000137166 (gene set migration)
Fetal anomalies v2.0 AHCY Gene migrated from ENSG00000101444 to ENSG00000101444 (gene set migration)
Fetal anomalies v2.0 FN1 Gene migrated from ENSG00000115414 to ENSG00000115414 (gene set migration)
Fetal anomalies v2.0 ADD1 Gene migrated from ENSG00000087274 to ENSG00000087274 (gene set migration)
Fetal anomalies v2.0 SOX3 Gene migrated from ENSG00000134595 to ENSG00000134595 (gene set migration)
Fetal anomalies v2.0 PREPL Gene migrated from ENSG00000138078 to ENSG00000138078 (gene set migration)
Fetal anomalies v2.0 JAGN1 Gene migrated from ENSG00000171135 to ENSG00000171135 (gene set migration)
Fetal anomalies v2.0 SEMA3E Gene migrated from ENSG00000170381 to ENSG00000170381 (gene set migration)
Fetal anomalies v2.0 ROBO4 Gene migrated from ENSG00000154133 to ENSG00000154133 (gene set migration)
Fetal anomalies v2.0 CDK6 Gene migrated from ENSG00000105810 to ENSG00000105810 (gene set migration)
Fetal anomalies v2.0 BMP3 Gene migrated from ENSG00000152785 to ENSG00000152785 (gene set migration)
Fetal anomalies v2.0 SPG11 Gene migrated from ENSG00000104133 to ENSG00000104133 (gene set migration)
Fetal anomalies v2.0 CACNA1G Gene migrated from ENSG00000006283 to ENSG00000006283 (gene set migration)
Fetal anomalies v2.0 COX15 Gene migrated from ENSG00000014919 to ENSG00000014919 (gene set migration)
Fetal anomalies v2.0 STX5 Gene migrated from ENSG00000162236 to ENSG00000162236 (gene set migration)
Fetal anomalies v2.0 CCDC88A Gene migrated from ENSG00000115355 to ENSG00000115355 (gene set migration)
Fetal anomalies v2.0 FGD5 Gene migrated from ENSG00000154783 to ENSG00000154783 (gene set migration)
Fetal anomalies v2.0 CCN2 Gene symbol changed from CTGF to CCN2 during gene set migration (ENSG00000118523 -> ENSG00000118523)
Fetal anomalies v2.0 COX10 Gene migrated from ENSG00000006695 to ENSG00000006695 (gene set migration)
Fetal anomalies v2.0 ACO2 Gene migrated from ENSG00000100412 to ENSG00000100412 (gene set migration)
Fetal anomalies v2.0 ZBTB42 Gene migrated from ENSG00000179627 to ENSG00000179627 (gene set migration)
Fetal anomalies v2.0 RNASET2 Gene migrated from ENSG00000026297 to ENSG00000026297 (gene set migration)
Fetal anomalies v2.0 UNC50 Gene migrated from ENSG00000115446 to ENSG00000115446 (gene set migration)
Fetal anomalies v2.0 ATP9A Gene migrated from ENSG00000054793 to ENSG00000054793 (gene set migration)
Fetal anomalies v2.0 ABCD4 Gene migrated from ENSG00000119688 to ENSG00000119688 (gene set migration)
Fetal anomalies v2.0 PIGY Gene migrated from ENSG00000255072 to ENSG00000255072 (gene set migration)
Fetal anomalies v2.0 PNPLA6 Gene migrated from ENSG00000032444 to ENSG00000032444 (gene set migration)
Fetal anomalies v2.0 MYL11 Gene symbol changed from MYLPF to MYL11 during gene set migration (ENSG00000180209 -> ENSG00000180209)
Fetal anomalies v2.0 ATP11A Gene migrated from ENSG00000068650 to ENSG00000068650 (gene set migration)
Fetal anomalies v2.0 PIGG Gene migrated from ENSG00000174227 to ENSG00000174227 (gene set migration)
Fetal anomalies v2.0 TNNI1 Gene migrated from ENSG00000159173 to ENSG00000159173 (gene set migration)
Fetal anomalies v2.0 MMP9 Gene migrated from ENSG00000100985 to ENSG00000100985 (gene set migration)
Fetal anomalies v2.0 GOLGA2 Gene migrated from ENSG00000167110 to ENSG00000167110 (gene set migration)
Fetal anomalies v2.0 PRDM6 Gene migrated from ENSG00000061455 to ENSG00000061455 (gene set migration)
Fetal anomalies v2.0 BPTF Gene migrated from ENSG00000171634 to ENSG00000171634 (gene set migration)
Fetal anomalies v2.0 SLC31A1 Gene migrated from ENSG00000136868 to ENSG00000136868 (gene set migration)
Fetal anomalies v2.0 WNT4 Gene migrated from ENSG00000162552 to ENSG00000162552 (gene set migration)
Fetal anomalies v2.0 MFN2 Gene migrated from ENSG00000116688 to ENSG00000116688 (gene set migration)
Fetal anomalies v2.0 NPM1 Gene migrated from ENSG00000181163 to ENSG00000181163 (gene set migration)
Fetal anomalies v2.0 DSG1 Gene migrated from ENSG00000134760 to ENSG00000134760 (gene set migration)
Fetal anomalies v2.0 DNAL1 Gene migrated from ENSG00000119661 to ENSG00000119661 (gene set migration)
Fetal anomalies v2.0 CDK9 Gene migrated from ENSG00000136807 to ENSG00000136807 (gene set migration)
Fetal anomalies v2.0 PDCD2 Gene migrated from ENSG00000071994 to ENSG00000071994 (gene set migration)
Fetal anomalies v2.0 HAND2 Gene migrated from ENSG00000164107 to ENSG00000164107 (gene set migration)
Fetal anomalies v2.0 WDR81 Gene migrated from ENSG00000167716 to ENSG00000167716 (gene set migration)
Fetal anomalies v2.0 PSAP Gene migrated from ENSG00000197746 to ENSG00000197746 (gene set migration)
Fetal anomalies v2.0 HDAC4 Gene migrated from ENSG00000068024 to ENSG00000068024 (gene set migration)
Fetal anomalies v2.0 WDR11 Gene migrated from ENSG00000120008 to ENSG00000120008 (gene set migration)
Fetal anomalies v2.0 KRIT1 Gene migrated from ENSG00000001631 to ENSG00000001631 (gene set migration)
Fetal anomalies v2.0 DNAH1 Gene migrated from ENSG00000114841 to ENSG00000114841 (gene set migration)
Fetal anomalies v2.0 BCL9L Gene migrated from ENSG00000186174 to ENSG00000186174 (gene set migration)
Fetal anomalies v2.0 BRWD3 Gene migrated from ENSG00000165288 to ENSG00000165288 (gene set migration)
Fetal anomalies v2.0 ZNF668 Gene migrated from ENSG00000167394 to ENSG00000167394 (gene set migration)
Fetal anomalies v2.0 HACE1 Gene migrated from ENSG00000085382 to ENSG00000085382 (gene set migration)
Fetal anomalies v2.0 SDHA Gene migrated from ENSG00000073578 to ENSG00000073578 (gene set migration)
Fetal anomalies v2.0 GRIA3 Gene migrated from ENSG00000125675 to ENSG00000125675 (gene set migration)
Fetal anomalies v2.0 PLEKHA5 Gene migrated from ENSG00000052126 to ENSG00000052126 (gene set migration)
Fetal anomalies v2.0 NUDCD2 Gene migrated from ENSG00000170584 to ENSG00000170584 (gene set migration)
Fetal anomalies v2.0 MMP15 Gene migrated from ENSG00000102996 to ENSG00000102996 (gene set migration)
Fetal anomalies v2.0 GLDC Gene migrated from ENSG00000178445 to ENSG00000178445 (gene set migration)
Fetal anomalies v2.0 KCTD1 Gene migrated from ENSG00000134504 to ENSG00000134504 (gene set migration)
Fetal anomalies v2.0 B3GNT2 Gene migrated from ENSG00000170340 to ENSG00000170340 (gene set migration)
Fetal anomalies v2.0 SLC25A20 Gene migrated from ENSG00000178537 to ENSG00000178537 (gene set migration)
Fetal anomalies v2.0 CHST11 Gene migrated from ENSG00000171310 to ENSG00000171310 (gene set migration)
Fetal anomalies v2.0 SIRT6 Gene migrated from ENSG00000077463 to ENSG00000077463 (gene set migration)
Fetal anomalies v2.0 NMNAT2 Gene migrated from ENSG00000157064 to ENSG00000157064 (gene set migration)
Fetal anomalies v2.0 ALG13 Gene migrated from ENSG00000101901 to ENSG00000101901 (gene set migration)
Fetal anomalies v2.0 MESP1 Gene migrated from ENSG00000166823 to ENSG00000166823 (gene set migration)
Fetal anomalies v2.0 PRDM15 Gene migrated from ENSG00000141956 to ENSG00000141956 (gene set migration)
Fetal anomalies v2.0 GATAD2A Gene migrated from ENSG00000167491 to ENSG00000167491 (gene set migration)
Fetal anomalies v2.0 PUS7 Gene migrated from ENSG00000091127 to ENSG00000091127 (gene set migration)
Fetal anomalies v2.0 AP3B2 Gene migrated from ENSG00000103723 to ENSG00000103723 (gene set migration)
Fetal anomalies v2.0 CRELD1 Gene migrated from ENSG00000163703 to ENSG00000163703 (gene set migration)
Fetal anomalies v2.0 ASXL3 Gene migrated from ENSG00000141431 to ENSG00000141431 (gene set migration)
Fetal anomalies v2.0 WNT9B Gene migrated from ENSG00000158955 to ENSG00000158955 (gene set migration)
Fetal anomalies v2.0 MYO9A Gene migrated from ENSG00000066933 to ENSG00000066933 (gene set migration)
Fetal anomalies v2.0 GON7 Gene migrated from ENSG00000170270 to ENSG00000170270 (gene set migration)
Fetal anomalies v2.0 PPP1R15B Gene migrated from ENSG00000158615 to ENSG00000158615 (gene set migration)
Fetal anomalies v2.0 PLEKHA7 Gene migrated from ENSG00000166689 to ENSG00000166689 (gene set migration)
Fetal anomalies v2.0 NAGA Gene migrated from ENSG00000198951 to ENSG00000198951 (gene set migration)
Fetal anomalies v2.0 EIF2B3 Gene migrated from ENSG00000070785 to ENSG00000070785 (gene set migration)
Fetal anomalies v2.0 PTEN Gene migrated from ENSG00000171862 to ENSG00000171862 (gene set migration)
Fetal anomalies v2.0 GATAD2B Gene migrated from ENSG00000143614 to ENSG00000143614 (gene set migration)
Fetal anomalies v2.0 CNTN1 Gene migrated from ENSG00000018236 to ENSG00000018236 (gene set migration)
Fetal anomalies v2.0 TAF13 Gene migrated from ENSG00000197780 to ENSG00000197780 (gene set migration)
Fetal anomalies v2.0 PDHB Gene migrated from ENSG00000168291 to ENSG00000168291 (gene set migration)
Fetal anomalies v2.0 MYLK Gene migrated from ENSG00000065534 to ENSG00000065534 (gene set migration)
Fetal anomalies v2.0 PDHX Gene migrated from ENSG00000110435 to ENSG00000110435 (gene set migration)
Fetal anomalies v2.0 ASPH Gene migrated from ENSG00000198363 to ENSG00000198363 (gene set migration)
Fetal anomalies v2.0 SLC35C1 Gene migrated from ENSG00000181830 to ENSG00000181830 (gene set migration)
Fetal anomalies v2.0 MIR17HG Gene migrated from ENSG00000215417 to ENSG00000215417 (gene set migration)
Fetal anomalies v2.0 ADARB1 Gene migrated from ENSG00000197381 to ENSG00000197381 (gene set migration)
Fetal anomalies v2.0 NT5C2 Gene migrated from ENSG00000076685 to ENSG00000076685 (gene set migration)
Fetal anomalies v2.0 MED11 Gene migrated from ENSG00000161920 to ENSG00000161920 (gene set migration)
Fetal anomalies v2.0 STAT5B Gene migrated from ENSG00000173757 to ENSG00000173757 (gene set migration)
Fetal anomalies v2.0 SRGAP1 Gene migrated from ENSG00000196935 to ENSG00000196935 (gene set migration)
Fetal anomalies v2.0 LRP6 Gene migrated from ENSG00000070018 to ENSG00000070018 (gene set migration)
Fetal anomalies v2.0 CLPP Gene migrated from ENSG00000125656 to ENSG00000125656 (gene set migration)
Fetal anomalies v2.0 ASTN1 Gene migrated from ENSG00000152092 to ENSG00000152092 (gene set migration)
Fetal anomalies v2.0 SLC16A2 Gene migrated from ENSG00000147100 to ENSG00000147100 (gene set migration)
Fetal anomalies v2.0 DBR1 Gene migrated from ENSG00000138231 to ENSG00000138231 (gene set migration)
Fetal anomalies v2.0 ZNF423 Gene migrated from ENSG00000102935 to ENSG00000102935 (gene set migration)
Fetal anomalies v2.0 NOG Gene migrated from ENSG00000183691 to ENSG00000183691 (gene set migration)
Fetal anomalies v2.0 HOXD12 Gene migrated from ENSG00000170178 to ENSG00000170178 (gene set migration)
Fetal anomalies v2.0 FGF20 Gene migrated from ENSG00000078579 to ENSG00000078579 (gene set migration)
Fetal anomalies v2.0 PTHLH Gene migrated from ENSG00000087494 to ENSG00000087494 (gene set migration)
Fetal anomalies v2.0 LINS1 Gene migrated from ENSG00000140471 to ENSG00000140471 (gene set migration)
Fetal anomalies v2.0 CHD8 Gene migrated from ENSG00000100888 to ENSG00000100888 (gene set migration)
Fetal anomalies v2.0 ERCC6L2 Gene migrated from ENSG00000182150 to ENSG00000182150 (gene set migration)
Fetal anomalies v2.0 ATXN2L Gene migrated from ENSG00000168488 to ENSG00000168488 (gene set migration)
Fetal anomalies v2.0 CHD3 Gene migrated from ENSG00000170004 to ENSG00000170004 (gene set migration)
Fetal anomalies v2.0 FMN1 Gene migrated from ENSG00000248905 to ENSG00000248905 (gene set migration)
Fetal anomalies v2.0 RFWD3 Gene migrated from ENSG00000168411 to ENSG00000168411 (gene set migration)
Fetal anomalies v2.0 ENPP1 Gene migrated from ENSG00000197594 to ENSG00000197594 (gene set migration)
Fetal anomalies v2.0 ABHD5 Gene migrated from ENSG00000011198 to ENSG00000011198 (gene set migration)
Fetal anomalies v2.0 MGAT2 Gene migrated from ENSG00000168282 to ENSG00000168282 (gene set migration)
Fetal anomalies v2.0 CFAP418 Gene symbol changed from C8orf37 to CFAP418 during gene set migration (ENSG00000156172 -> ENSG00000156172)
Fetal anomalies v2.0 AGRN Gene migrated from ENSG00000188157 to ENSG00000188157 (gene set migration)
Fetal anomalies v2.0 THRB Gene migrated from ENSG00000151090 to ENSG00000151090 (gene set migration)
Fetal anomalies v2.0 VPS13B Gene migrated from ENSG00000132549 to ENSG00000132549 (gene set migration)
Fetal anomalies v2.0 SNAP25 Gene migrated from ENSG00000132639 to ENSG00000132639 (gene set migration)
Fetal anomalies v2.0 MAFB Gene migrated from ENSG00000204103 to ENSG00000204103 (gene set migration)
Fetal anomalies v2.0 NODAL Gene migrated from ENSG00000156574 to ENSG00000156574 (gene set migration)
Fetal anomalies v2.0 SLIT3 Gene migrated from ENSG00000184347 to ENSG00000184347 (gene set migration)
Fetal anomalies v2.0 INPP5K Gene migrated from ENSG00000132376 to ENSG00000132376 (gene set migration)
Fetal anomalies v2.0 PPP2R5C Gene migrated from ENSG00000078304 to ENSG00000078304 (gene set migration)
Fetal anomalies v2.0 LAMB2 Gene migrated from ENSG00000172037 to ENSG00000172037 (gene set migration)
Fetal anomalies v2.0 FRYL Gene migrated from ENSG00000075539 to ENSG00000075539 (gene set migration)
Fetal anomalies v2.0 UNC80 Gene migrated from ENSG00000144406 to ENSG00000144406 (gene set migration)
Fetal anomalies v2.0 BCORL1 Gene migrated from ENSG00000085185 to ENSG00000085185 (gene set migration)
Fetal anomalies v2.0 LMOD1 Gene migrated from ENSG00000163431 to ENSG00000163431 (gene set migration)
Fetal anomalies v2.0 HEY2 Gene migrated from ENSG00000135547 to ENSG00000135547 (gene set migration)
Fetal anomalies v2.0 PRIM1 Gene migrated from ENSG00000198056 to ENSG00000198056 (gene set migration)
Fetal anomalies v2.0 TKT Gene migrated from ENSG00000163931 to ENSG00000163931 (gene set migration)
Fetal anomalies v2.0 TBX2 Gene migrated from ENSG00000121068 to ENSG00000121068 (gene set migration)
Fetal anomalies v2.0 TECPR2 Gene migrated from ENSG00000196663 to ENSG00000196663 (gene set migration)
Fetal anomalies v2.0 PLCH1 Gene migrated from ENSG00000114805 to ENSG00000114805 (gene set migration)
Fetal anomalies v2.0 CCDC28B Gene migrated from ENSG00000160050 to ENSG00000160050 (gene set migration)
Fetal anomalies v2.0 SLC30A7 Gene migrated from ENSG00000162695 to ENSG00000162695 (gene set migration)
Fetal anomalies v2.0 FOXH1 Gene migrated from ENSG00000160973 to ENSG00000160973 (gene set migration)
Fetal anomalies v2.0 GATA2 Gene migrated from ENSG00000179348 to ENSG00000179348 (gene set migration)
Fetal anomalies v2.0 TMEM70 Gene migrated from ENSG00000175606 to ENSG00000175606 (gene set migration)
Fetal anomalies v2.0 NUAK2 Gene migrated from ENSG00000163545 to ENSG00000163545 (gene set migration)
Fetal anomalies v2.0 NSUN2 Gene migrated from ENSG00000037474 to ENSG00000037474 (gene set migration)
Fetal anomalies v2.0 TMEM126B Gene migrated from ENSG00000171204 to ENSG00000171204 (gene set migration)
Fetal anomalies v2.0 PURA Gene migrated from ENSG00000185129 to ENSG00000185129 (gene set migration)
Fetal anomalies v2.0 DHTKD1 Gene migrated from ENSG00000181192 to ENSG00000181192 (gene set migration)
Fetal anomalies v2.0 DCAF15 Gene migrated from ENSG00000132017 to ENSG00000132017 (gene set migration)
Fetal anomalies v2.0 TBC1D23 Gene migrated from ENSG00000036054 to ENSG00000036054 (gene set migration)
Fetal anomalies v2.0 SRPK3 Gene migrated from ENSG00000184343 to ENSG00000184343 (gene set migration)
Fetal anomalies v2.0 HSF4 Gene migrated from ENSG00000102878 to ENSG00000102878 (gene set migration)
Fetal anomalies v2.0 RASA2 Gene migrated from ENSG00000155903 to ENSG00000155903 (gene set migration)
Fetal anomalies v2.0 CYB5R3 Gene migrated from ENSG00000100243 to ENSG00000100243 (gene set migration)
Fetal anomalies v2.0 NDUFA10 Gene migrated from ENSG00000130414 to ENSG00000130414 (gene set migration)
Fetal anomalies v2.0 IFT57 Gene migrated from ENSG00000114446 to ENSG00000114446 (gene set migration)
Fetal anomalies v2.0 SLC25A38 Gene migrated from ENSG00000144659 to ENSG00000144659 (gene set migration)
Fetal anomalies v2.0 GRIK2 Gene migrated from ENSG00000164418 to ENSG00000164418 (gene set migration)
Fetal anomalies v2.0 PLK1 Gene migrated from ENSG00000166851 to ENSG00000166851 (gene set migration)
Fetal anomalies v2.0 GATA5 Gene migrated from ENSG00000130700 to ENSG00000130700 (gene set migration)
Fetal anomalies v2.0 NUP85 Gene migrated from ENSG00000125450 to ENSG00000125450 (gene set migration)
Fetal anomalies v2.0 SIK3 Gene migrated from ENSG00000160584 to ENSG00000160584 (gene set migration)
Fetal anomalies v2.0 SLC35A1 Gene migrated from ENSG00000164414 to ENSG00000164414 (gene set migration)
Fetal anomalies v2.0 SLC37A4 Gene migrated from ENSG00000137700 to ENSG00000137700 (gene set migration)
Fetal anomalies v2.0 PJA1 Gene migrated from ENSG00000181191 to ENSG00000181191 (gene set migration)
Fetal anomalies v2.0 SLC18A3 Gene migrated from ENSG00000187714 to ENSG00000187714 (gene set migration)
Fetal anomalies v2.0 TRMT10C Gene migrated from ENSG00000174173 to ENSG00000174173 (gene set migration)
Fetal anomalies v2.0 SHROOM3 Gene migrated from ENSG00000138771 to ENSG00000138771 (gene set migration)
Fetal anomalies v2.0 MRPS34 Gene migrated from ENSG00000074071 to ENSG00000074071 (gene set migration)
Fetal anomalies v2.0 TRPM7 Gene migrated from ENSG00000092439 to ENSG00000092439 (gene set migration)
Fetal anomalies v2.0 FKBP8 Gene migrated from ENSG00000105701 to ENSG00000105701 (gene set migration)
Fetal anomalies v2.0 TRIP13 Gene migrated from ENSG00000071539 to ENSG00000071539 (gene set migration)
Fetal anomalies v2.0 TAPT1 Gene migrated from ENSG00000169762 to ENSG00000169762 (gene set migration)
Fetal anomalies v2.0 MBOAT7 Gene migrated from ENSG00000125505 to ENSG00000125505 (gene set migration)
Fetal anomalies v2.0 LRPPRC Gene migrated from ENSG00000138095 to ENSG00000138095 (gene set migration)
Fetal anomalies v2.0 RRAS Gene migrated from ENSG00000126458 to ENSG00000126458 (gene set migration)
Fetal anomalies v2.0 SLC30A5 Gene migrated from ENSG00000145740 to ENSG00000145740 (gene set migration)
Fetal anomalies v2.0 SLC6A8 Gene migrated from ENSG00000130821 to ENSG00000130821 (gene set migration)
Fetal anomalies v2.0 RPS23 Gene migrated from ENSG00000186468 to ENSG00000186468 (gene set migration)
Fetal anomalies v2.0 LRRC32 Gene migrated from ENSG00000137507 to ENSG00000137507 (gene set migration)
Fetal anomalies v2.0 TRAPPC14 Gene symbol changed from C7orf43 to TRAPPC14 during gene set migration (ENSG00000146826 -> ENSG00000146826)
Fetal anomalies v2.0 RORA Gene migrated from ENSG00000069667 to ENSG00000069667 (gene set migration)
Fetal anomalies v2.0 PPP3CA Gene migrated from ENSG00000138814 to ENSG00000138814 (gene set migration)
Fetal anomalies v2.0 KPTN Gene migrated from ENSG00000118162 to ENSG00000118162 (gene set migration)
Fetal anomalies v2.0 RFT1 Gene migrated from ENSG00000163933 to ENSG00000163933 (gene set migration)
Fetal anomalies v2.0 QRICH1 Gene migrated from ENSG00000198218 to ENSG00000198218 (gene set migration)
Fetal anomalies v2.0 KMT2E Gene migrated from ENSG00000005483 to ENSG00000005483 (gene set migration)
Fetal anomalies v2.0 TOPORS Gene migrated from ENSG00000197579 to ENSG00000197579 (gene set migration)
Fetal anomalies v2.0 ZDHHC9 Gene migrated from ENSG00000188706 to ENSG00000188706 (gene set migration)
Fetal anomalies v2.0 EDN1 Gene migrated from ENSG00000078401 to ENSG00000078401 (gene set migration)
Fetal anomalies v2.0 SLC25A26 Gene migrated from ENSG00000144741 to ENSG00000144741 (gene set migration)
Fetal anomalies v2.0 DZIP1L Gene migrated from ENSG00000158163 to ENSG00000158163 (gene set migration)
Fetal anomalies v2.0 NUBP2 Gene migrated from ENSG00000095906 to ENSG00000095906 (gene set migration)
Fetal anomalies v2.0 KCNJ11 Gene migrated from ENSG00000187486 to ENSG00000187486 (gene set migration)
Fetal anomalies v2.0 KIF3B Gene migrated from ENSG00000101350 to ENSG00000101350 (gene set migration)
Fetal anomalies v2.0 NAA16 Gene migrated from ENSG00000172766 to ENSG00000172766 (gene set migration)
Fetal anomalies v2.0 DAG1 Gene migrated from ENSG00000173402 to ENSG00000173402 (gene set migration)
Fetal anomalies v2.0 CNOT1 Gene migrated from ENSG00000125107 to ENSG00000125107 (gene set migration)
Fetal anomalies v2.0 HOXA11 Gene migrated from ENSG00000005073 to ENSG00000005073 (gene set migration)
Fetal anomalies v2.0 DHRS3 Gene migrated from ENSG00000162496 to ENSG00000162496 (gene set migration)
Fetal anomalies v2.0 LINGO1 Gene migrated from ENSG00000169783 to ENSG00000169783 (gene set migration)
Fetal anomalies v2.0 RPS29 Gene migrated from ENSG00000213741 to ENSG00000213741 (gene set migration)
Fetal anomalies v2.0 PRPS1 Gene migrated from ENSG00000147224 to ENSG00000147224 (gene set migration)
Fetal anomalies v2.0 FGF4 Gene migrated from ENSG00000075388 to ENSG00000075388 (gene set migration)
Fetal anomalies v2.0 PGM3 Gene migrated from ENSG00000013375 to ENSG00000013375 (gene set migration)
Fetal anomalies v2.0 VEGFC Gene migrated from ENSG00000150630 to ENSG00000150630 (gene set migration)
Fetal anomalies v2.0 HSD17B10 Gene migrated from ENSG00000072506 to ENSG00000072506 (gene set migration)
Fetal anomalies v2.0 POLG Gene migrated from ENSG00000140521 to ENSG00000140521 (gene set migration)
Fetal anomalies v2.0 CAPN15 Gene migrated from ENSG00000103326 to ENSG00000103326 (gene set migration)
Fetal anomalies v2.0 TRPV6 Gene migrated from ENSG00000165125 to ENSG00000165125 (gene set migration)
Fetal anomalies v2.0 TSC2 Gene migrated from ENSG00000103197 to ENSG00000103197 (gene set migration)
Fetal anomalies v2.0 TSC1 Gene migrated from ENSG00000165699 to ENSG00000165699 (gene set migration)
Fetal anomalies v2.0 TSEN54 Gene migrated from ENSG00000182173 to ENSG00000182173 (gene set migration)
Fetal anomalies v2.0 TRIP4 Gene migrated from ENSG00000103671 to ENSG00000103671 (gene set migration)
Fetal anomalies v2.0 TRPV4 Gene migrated from ENSG00000111199 to ENSG00000111199 (gene set migration)
Fetal anomalies v2.0 FLNA Gene migrated from ENSG00000196924 to ENSG00000196924 (gene set migration)
Fetal anomalies v2.0 TRAF7 Gene migrated from ENSG00000131653 to ENSG00000131653 (gene set migration)
Fetal anomalies v2.0 TRIM37 Gene migrated from ENSG00000108395 to ENSG00000108395 (gene set migration)
Fetal anomalies v2.0 TPM3 Gene migrated from ENSG00000143549 to ENSG00000143549 (gene set migration)
Fetal anomalies v2.0 FKTN Gene migrated from ENSG00000106692 to ENSG00000106692 (gene set migration)
Fetal anomalies v2.0 TOP3A Gene migrated from ENSG00000177302 to ENSG00000177302 (gene set migration)
Fetal anomalies v2.0 TMEM67 Gene migrated from ENSG00000164953 to ENSG00000164953 (gene set migration)
Fetal anomalies v2.0 TNNI2 Gene migrated from ENSG00000130598 to ENSG00000130598 (gene set migration)
Fetal anomalies v2.0 TMEM94 Gene migrated from ENSG00000177728 to ENSG00000177728 (gene set migration)
Fetal anomalies v2.0 TGFBR2 Gene migrated from ENSG00000163513 to ENSG00000163513 (gene set migration)
Fetal anomalies v2.0 THOC6 Gene migrated from ENSG00000131652 to ENSG00000131652 (gene set migration)
Fetal anomalies v2.0 FGFR3 Gene migrated from ENSG00000068078 to ENSG00000068078 (gene set migration)
Fetal anomalies v2.0 FOXC2 Gene migrated from ENSG00000176692 to ENSG00000176692 (gene set migration)
Fetal anomalies v2.0 ARL3 Gene migrated from ENSG00000138175 to ENSG00000138175 (gene set migration)
Fetal anomalies v2.0 TGDS Gene migrated from ENSG00000088451 to ENSG00000088451 (gene set migration)
Fetal anomalies v2.0 TGFB2 Gene migrated from ENSG00000092969 to ENSG00000092969 (gene set migration)
Fetal anomalies v2.0 KATNIP Gene symbol changed from KIAA0556 to KATNIP during gene set migration (ENSG00000047578 -> ENSG00000047578)
Fetal anomalies v2.0 TCTN1 Gene migrated from ENSG00000204852 to ENSG00000204852 (gene set migration)
Fetal anomalies v2.0 FGFR1 Gene migrated from ENSG00000077782 to ENSG00000077782 (gene set migration)
Fetal anomalies v2.0 TCOF1 Gene migrated from ENSG00000070814 to ENSG00000070814 (gene set migration)
Fetal anomalies v2.0 TMEM218 Gene migrated from ENSG00000150433 to ENSG00000150433 (gene set migration)
Fetal anomalies v2.0 TCF4 Gene migrated from ENSG00000196628 to ENSG00000196628 (gene set migration)
Fetal anomalies v2.0 TBX4 Gene migrated from ENSG00000121075 to ENSG00000121075 (gene set migration)
Fetal anomalies v2.0 TCF12 Gene migrated from ENSG00000140262 to ENSG00000140262 (gene set migration)
Fetal anomalies v2.0 FGD1 Gene migrated from ENSG00000102302 to ENSG00000102302 (gene set migration)
Fetal anomalies v2.0 TBCE Gene migrated from ENSG00000116957 to ENSG00000284770 (gene set migration)
Fetal anomalies v2.0 SUZ12 Gene migrated from ENSG00000178691 to ENSG00000178691 (gene set migration)
Fetal anomalies v2.0 TAF1 Gene migrated from ENSG00000147133 to ENSG00000147133 (gene set migration)
Fetal anomalies v2.0 FBXL4 Gene migrated from ENSG00000112234 to ENSG00000112234 (gene set migration)
Fetal anomalies v2.0 SUCLG1 Gene migrated from ENSG00000163541 to ENSG00000163541 (gene set migration)
Fetal anomalies v2.0 SRCAP Gene migrated from ENSG00000080603 to ENSG00000080603 (gene set migration)
Fetal anomalies v2.0 SRD5A3 Gene migrated from ENSG00000128039 to ENSG00000128039 (gene set migration)
Fetal anomalies v2.0 SRD5A2 Gene migrated from ENSG00000277893 to ENSG00000277893 (gene set migration)
Fetal anomalies v2.0 FBN1 Gene migrated from ENSG00000166147 to ENSG00000166147 (gene set migration)
Fetal anomalies v2.0 SOX2 Gene migrated from ENSG00000181449 to ENSG00000181449 (gene set migration)
Fetal anomalies v2.0 SOX9 Gene migrated from ENSG00000125398 to ENSG00000125398 (gene set migration)
Fetal anomalies v2.0 SOX10 Gene migrated from ENSG00000100146 to ENSG00000100146 (gene set migration)
Fetal anomalies v2.0 MINPP1 Gene migrated from ENSG00000107789 to ENSG00000107789 (gene set migration)
Fetal anomalies v2.0 NSRP1 Gene migrated from ENSG00000126653 to ENSG00000126653 (gene set migration)
Fetal anomalies v2.0 SMC1A Gene migrated from ENSG00000072501 to ENSG00000072501 (gene set migration)
Fetal anomalies v2.0 SMC3 Gene migrated from ENSG00000108055 to ENSG00000108055 (gene set migration)
Fetal anomalies v2.0 SMCHD1 Gene migrated from ENSG00000101596 to ENSG00000101596 (gene set migration)
Fetal anomalies v2.0 SMN1 Gene migrated from ENSG00000172062 to ENSG00000172062 (gene set migration)
Fetal anomalies v2.0 FANCI Gene migrated from ENSG00000140525 to ENSG00000140525 (gene set migration)
Fetal anomalies v2.0 SLC35D1 Gene migrated from ENSG00000116704 to ENSG00000116704 (gene set migration)
Fetal anomalies v2.0 SLX4 Gene migrated from ENSG00000188827 to ENSG00000188827 (gene set migration)
Fetal anomalies v2.0 FANCF Gene migrated from ENSG00000183161 to ENSG00000183161 (gene set migration)
Fetal anomalies v2.0 MAP3K20 Gene migrated from ENSG00000091436 to ENSG00000091436 (gene set migration)
Fetal anomalies v2.0 SLC33A1 Gene migrated from ENSG00000169359 to ENSG00000169359 (gene set migration)
Fetal anomalies v2.0 SLC27A4 Gene migrated from ENSG00000167114 to ENSG00000167114 (gene set migration)
Fetal anomalies v2.0 SLC17A5 Gene migrated from ENSG00000119899 to ENSG00000119899 (gene set migration)
Fetal anomalies v2.0 FANCD2 Gene migrated from ENSG00000144554 to ENSG00000144554 (gene set migration)
Fetal anomalies v2.0 TMEM237 Gene migrated from ENSG00000155755 to ENSG00000155755 (gene set migration)
Fetal anomalies v2.0 SHOX Gene migrated from ENSG00000185960 to ENSG00000185960 (gene set migration)
Fetal anomalies v2.0 FANCB Gene migrated from ENSG00000181544 to ENSG00000181544 (gene set migration)
Fetal anomalies v2.0 SC5D Gene migrated from ENSG00000109929 to ENSG00000109929 (gene set migration)
Fetal anomalies v2.0 PPIL1 Gene migrated from ENSG00000137168 to ENSG00000137168 (gene set migration)
Fetal anomalies v2.0 SAMHD1 Gene migrated from ENSG00000101347 to ENSG00000101347 (gene set migration)
Fetal anomalies v2.0 SATB2 Gene migrated from ENSG00000119042 to ENSG00000119042 (gene set migration)
Fetal anomalies v2.0 SBDS Gene migrated from ENSG00000126524 to ENSG00000126524 (gene set migration)
Fetal anomalies v2.0 SCARF2 Gene migrated from ENSG00000244486 to ENSG00000244486 (gene set migration)
Fetal anomalies v2.0 RPL11 Gene migrated from ENSG00000142676 to ENSG00000142676 (gene set migration)
Fetal anomalies v2.0 RPL5 Gene migrated from ENSG00000122406 to ENSG00000122406 (gene set migration)
Fetal anomalies v2.0 RPS10 Gene migrated from ENSG00000124614 to ENSG00000124614 (gene set migration)
Fetal anomalies v2.0 RPS17 Gene migrated from ENSG00000182774 to ENSG00000182774 (gene set migration)
Fetal anomalies v2.0 RPS19 Gene migrated from ENSG00000105372 to ENSG00000105372 (gene set migration)
Fetal anomalies v2.0 ROBO1 Gene migrated from ENSG00000169855 to ENSG00000169855 (gene set migration)
Fetal anomalies v2.0 RBPJ Gene migrated from ENSG00000168214 to ENSG00000168214 (gene set migration)
Fetal anomalies v2.0 ROGDI Gene migrated from ENSG00000067836 to ENSG00000067836 (gene set migration)
Fetal anomalies v2.0 RAPSN Gene migrated from ENSG00000165917 to ENSG00000165917 (gene set migration)
Fetal anomalies v2.0 RARB Gene migrated from ENSG00000077092 to ENSG00000077092 (gene set migration)
Fetal anomalies v2.0 RARS2 Gene migrated from ENSG00000146282 to ENSG00000146282 (gene set migration)
Fetal anomalies v2.0 RAX Gene migrated from ENSG00000134438 to ENSG00000134438 (gene set migration)
Fetal anomalies v2.0 RAB18 Gene migrated from ENSG00000099246 to ENSG00000099246 (gene set migration)
Fetal anomalies v2.0 RAB23 Gene migrated from ENSG00000112210 to ENSG00000112210 (gene set migration)
Fetal anomalies v2.0 COG5 Gene migrated from ENSG00000164597 to ENSG00000164597 (gene set migration)
Fetal anomalies v2.0 POU1F1 Gene migrated from ENSG00000064835 to ENSG00000064835 (gene set migration)
Fetal anomalies v2.0 PORCN Gene migrated from ENSG00000102312 to ENSG00000102312 (gene set migration)
Fetal anomalies v2.0 PPIB Gene migrated from ENSG00000166794 to ENSG00000166794 (gene set migration)
Fetal anomalies v2.0 PPP1CB Gene migrated from ENSG00000213639 to ENSG00000213639 (gene set migration)
Fetal anomalies v2.0 POMK Gene migrated from ENSG00000185900 to ENSG00000185900 (gene set migration)
Fetal anomalies v2.0 TP73 Gene migrated from ENSG00000078900 to ENSG00000078900 (gene set migration)
Fetal anomalies v2.0 POR Gene migrated from ENSG00000127948 to ENSG00000127948 (gene set migration)
Fetal anomalies v2.0 POLR3A Gene migrated from ENSG00000148606 to ENSG00000148606 (gene set migration)
Fetal anomalies v2.0 PLK4 Gene migrated from ENSG00000142731 to ENSG00000142731 (gene set migration)
Fetal anomalies v2.0 ZMYM2 Gene migrated from ENSG00000121741 to ENSG00000121741 (gene set migration)
Fetal anomalies v2.0 UBA2 Gene migrated from ENSG00000126261 to ENSG00000126261 (gene set migration)
Fetal anomalies v2.0 PITX2 Gene migrated from ENSG00000164093 to ENSG00000164093 (gene set migration)
Fetal anomalies v2.0 PKD1L1 Gene migrated from ENSG00000158683 to ENSG00000158683 (gene set migration)
Fetal anomalies v2.0 UBR7 Gene migrated from ENSG00000012963 to ENSG00000012963 (gene set migration)
Fetal anomalies v2.0 PIGT Gene migrated from ENSG00000124155 to ENSG00000124155 (gene set migration)
Fetal anomalies v2.0 PIGV Gene migrated from ENSG00000060642 to ENSG00000060642 (gene set migration)
Fetal anomalies v2.0 PIK3CA Gene migrated from ENSG00000121879 to ENSG00000121879 (gene set migration)
Fetal anomalies v2.0 PIK3R1 Gene migrated from ENSG00000145675 to ENSG00000145675 (gene set migration)
Fetal anomalies v2.0 PIEZO2 Gene migrated from ENSG00000154864 to ENSG00000154864 (gene set migration)
Fetal anomalies v2.0 PIGO Gene migrated from ENSG00000165282 to ENSG00000165282 (gene set migration)
Fetal anomalies v2.0 PEX2 Gene migrated from ENSG00000164751 to ENSG00000164751 (gene set migration)
Fetal anomalies v2.0 PEX26 Gene migrated from ENSG00000215193 to ENSG00000215193 (gene set migration)
Fetal anomalies v2.0 PEX3 Gene migrated from ENSG00000034693 to ENSG00000034693 (gene set migration)
Fetal anomalies v2.0 PEX5 Gene migrated from ENSG00000139197 to ENSG00000139197 (gene set migration)
Fetal anomalies v2.0 PEX6 Gene migrated from ENSG00000124587 to ENSG00000124587 (gene set migration)
Fetal anomalies v2.0 PEX1 Gene migrated from ENSG00000127980 to ENSG00000127980 (gene set migration)
Fetal anomalies v2.0 CCNQ Gene symbol changed from FAM58A to CCNQ during gene set migration (ENSG00000262919 -> ENSG00000262919)
Fetal anomalies v2.0 ORC4 Gene migrated from ENSG00000115947 to ENSG00000115947 (gene set migration)
Fetal anomalies v2.0 SPEN Gene migrated from ENSG00000065526 to ENSG00000065526 (gene set migration)
Fetal anomalies v2.0 OPHN1 Gene migrated from ENSG00000079482 to ENSG00000079482 (gene set migration)
Fetal anomalies v2.0 OFD1 Gene migrated from ENSG00000046651 to ENSG00000046651 (gene set migration)
Fetal anomalies v2.0 EXT2 Gene migrated from ENSG00000151348 to ENSG00000151348 (gene set migration)
Fetal anomalies v2.0 NSDHL Gene migrated from ENSG00000147383 to ENSG00000147383 (gene set migration)
Fetal anomalies v2.0 SMAD6 Gene migrated from ENSG00000137834 to ENSG00000137834 (gene set migration)
Fetal anomalies v2.0 TLL1 Gene migrated from ENSG00000038295 to ENSG00000038295 (gene set migration)
Fetal anomalies v2.0 NRAS Gene migrated from ENSG00000213281 to ENSG00000213281 (gene set migration)
Fetal anomalies v2.0 EVC Gene migrated from ENSG00000072840 to ENSG00000072840 (gene set migration)
Fetal anomalies v2.0 FAM20C Gene migrated from ENSG00000177706 to ENSG00000177706 (gene set migration)
Fetal anomalies v2.0 SCAF4 Gene migrated from ENSG00000156304 to ENSG00000156304 (gene set migration)
Fetal anomalies v2.0 NPHP3 Gene migrated from ENSG00000113971 to ENSG00000113971 (gene set migration)
Fetal anomalies v2.0 NBAS Gene migrated from ENSG00000151779 to ENSG00000151779 (gene set migration)
Fetal anomalies v2.0 ESCO2 Gene migrated from ENSG00000171320 to ENSG00000171320 (gene set migration)
Fetal anomalies v2.0 NALCN Gene migrated from ENSG00000102452 to ENSG00000102452 (gene set migration)
Fetal anomalies v2.0 ERF Gene migrated from ENSG00000105722 to ENSG00000105722 (gene set migration)
Fetal anomalies v2.0 ERCC6 Gene migrated from ENSG00000225830 to ENSG00000225830 (gene set migration)
Fetal anomalies v2.0 MYH8 Gene migrated from ENSG00000133020 to ENSG00000133020 (gene set migration)
Fetal anomalies v2.0 MYBPC1 Gene migrated from ENSG00000196091 to ENSG00000196091 (gene set migration)
Fetal anomalies v2.0 HYCC1 Gene symbol changed from FAM126A to HYCC1 during gene set migration (ENSG00000122591 -> ENSG00000122591)
Fetal anomalies v2.0 ERCC4 Gene migrated from ENSG00000175595 to ENSG00000175595 (gene set migration)
Fetal anomalies v2.0 DDX6 Gene migrated from ENSG00000110367 to ENSG00000110367 (gene set migration)
Fetal anomalies v2.0 MMACHC Gene migrated from ENSG00000132763 to ENSG00000132763 (gene set migration)
Fetal anomalies v2.0 HUWE1 Gene migrated from ENSG00000086758 to ENSG00000086758 (gene set migration)
Fetal anomalies v2.0 ADSL Gene migrated from ENSG00000239900 to ENSG00000239900 (gene set migration)
Fetal anomalies v2.0 MID1 Gene migrated from ENSG00000101871 to ENSG00000101871 (gene set migration)
Fetal anomalies v2.0 MGP Gene migrated from ENSG00000111341 to ENSG00000111341 (gene set migration)
Fetal anomalies v2.0 MFSD2A Gene migrated from ENSG00000168389 to ENSG00000168389 (gene set migration)
Fetal anomalies v2.0 ZIC1 Gene migrated from ENSG00000152977 to ENSG00000152977 (gene set migration)
Fetal anomalies v2.0 EIF4A3 Gene migrated from ENSG00000141543 to ENSG00000141543 (gene set migration)
Fetal anomalies v2.0 ADAMTS10 Gene migrated from ENSG00000142303 to ENSG00000142303 (gene set migration)
Fetal anomalies v2.0 EYA1 Gene migrated from ENSG00000104313 to ENSG00000104313 (gene set migration)
Fetal anomalies v2.0 LTBP3 Gene migrated from ENSG00000168056 to ENSG00000168056 (gene set migration)
Fetal anomalies v2.0 MAPKAPK5 Gene migrated from ENSG00000089022 to ENSG00000089022 (gene set migration)
Fetal anomalies v2.0 HIVEP2 Gene migrated from ENSG00000010818 to ENSG00000010818 (gene set migration)
Fetal anomalies v2.0 LIPA Gene migrated from ENSG00000107798 to ENSG00000107798 (gene set migration)
Fetal anomalies v2.0 LIG4 Gene migrated from ENSG00000174405 to ENSG00000174405 (gene set migration)
Fetal anomalies v2.0 OCLN Gene migrated from ENSG00000197822 to ENSG00000197822 (gene set migration)
Fetal anomalies v2.0 EXOSC3 Gene migrated from ENSG00000107371 to ENSG00000107371 (gene set migration)
Fetal anomalies v2.0 LGI4 Gene migrated from ENSG00000153902 to ENSG00000153902 (gene set migration)
Fetal anomalies v2.0 FAT4 Gene migrated from ENSG00000196159 to ENSG00000196159 (gene set migration)
Fetal anomalies v2.0 LAMC3 Gene migrated from ENSG00000050555 to ENSG00000050555 (gene set migration)
Fetal anomalies v2.0 ZNF699 Gene migrated from ENSG00000196110 to ENSG00000196110 (gene set migration)
Fetal anomalies v2.0 HCCS Gene migrated from ENSG00000004961 to ENSG00000004961 (gene set migration)
Fetal anomalies v2.0 LFNG Gene migrated from ENSG00000106003 to ENSG00000106003 (gene set migration)
Fetal anomalies v2.0 FGF8 Gene migrated from ENSG00000107831 to ENSG00000107831 (gene set migration)
Fetal anomalies v2.0 LARP7 Gene migrated from ENSG00000174720 to ENSG00000174720 (gene set migration)
Fetal anomalies v2.0 FOXE1 Gene migrated from ENSG00000178919 to ENSG00000178919 (gene set migration)
Fetal anomalies v2.0 VRK1 Gene migrated from ENSG00000100749 to ENSG00000100749 (gene set migration)
Fetal anomalies v2.0 L1CAM Gene migrated from ENSG00000198910 to ENSG00000198910 (gene set migration)
Fetal anomalies v2.0 KMT2D Gene migrated from ENSG00000167548 to ENSG00000167548 (gene set migration)
Fetal anomalies v2.0 SMAD2 Gene migrated from ENSG00000175387 to ENSG00000175387 (gene set migration)
Fetal anomalies v2.0 MYBPC3 Gene migrated from ENSG00000134571 to ENSG00000134571 (gene set migration)
Fetal anomalies v2.0 ACOX1 Gene migrated from ENSG00000161533 to ENSG00000161533 (gene set migration)
Fetal anomalies v2.0 KCNJ1 Gene migrated from ENSG00000151704 to ENSG00000151704 (gene set migration)
Fetal anomalies v2.0 EIF2B2 Gene migrated from ENSG00000119718 to ENSG00000119718 (gene set migration)
Fetal anomalies v2.0 CRADD Gene migrated from ENSG00000169372 to ENSG00000169372 (gene set migration)
Fetal anomalies v2.0 EHMT1 Gene migrated from ENSG00000181090 to ENSG00000181090 (gene set migration)
Fetal anomalies v2.0 DEPDC5 Gene migrated from ENSG00000100150 to ENSG00000100150 (gene set migration)
Fetal anomalies v2.0 AR Gene migrated from ENSG00000169083 to ENSG00000169083 (gene set migration)
Fetal anomalies v2.0 JAG1 Gene migrated from ENSG00000101384 to ENSG00000101384 (gene set migration)
Fetal anomalies v2.0 HHAT Gene migrated from ENSG00000054392 to ENSG00000054392 (gene set migration)
Fetal anomalies v2.0 GPI Gene migrated from ENSG00000105220 to ENSG00000105220 (gene set migration)
Fetal anomalies v2.0 NKX2-5 Gene migrated from ENSG00000183072 to ENSG00000183072 (gene set migration)
Fetal anomalies v2.0 NPHP1 Gene migrated from ENSG00000144061 to ENSG00000144061 (gene set migration)
Fetal anomalies v2.0 GPC3 Gene migrated from ENSG00000147257 to ENSG00000147257 (gene set migration)
Fetal anomalies v2.0 GORAB Gene migrated from ENSG00000120370 to ENSG00000120370 (gene set migration)
Fetal anomalies v2.0 PDHA1 Gene migrated from ENSG00000131828 to ENSG00000131828 (gene set migration)
Fetal anomalies v2.0 PEX10 Gene migrated from ENSG00000157911 to ENSG00000157911 (gene set migration)
Fetal anomalies v2.0 PEX14 Gene migrated from ENSG00000142655 to ENSG00000142655 (gene set migration)
Fetal anomalies v2.0 PEX19 Gene migrated from ENSG00000162735 to ENSG00000162735 (gene set migration)
Fetal anomalies v2.0 PGM1 Gene migrated from ENSG00000079739 to ENSG00000079739 (gene set migration)
Fetal anomalies v2.0 PIK3R2 Gene migrated from ENSG00000105647 to ENSG00000105647 (gene set migration)
Fetal anomalies v2.0 POMT2 Gene migrated from ENSG00000009830 to ENSG00000009830 (gene set migration)
Fetal anomalies v2.0 CDK10 Gene migrated from ENSG00000185324 to ENSG00000185324 (gene set migration)
Fetal anomalies v2.0 CFC1 Gene migrated from ENSG00000136698 to ENSG00000136698 (gene set migration)
Fetal anomalies v2.0 ARF1 Gene migrated from ENSG00000143761 to ENSG00000143761 (gene set migration)
Fetal anomalies v2.0 ACSL4 Gene migrated from ENSG00000068366 to ENSG00000068366 (gene set migration)
Fetal anomalies v2.0 SETD5 Gene migrated from ENSG00000168137 to ENSG00000168137 (gene set migration)
Fetal anomalies v2.0 MAPK1 Gene migrated from ENSG00000100030 to ENSG00000100030 (gene set migration)
Fetal anomalies v2.0 CC2D2A Gene migrated from ENSG00000048342 to ENSG00000048342 (gene set migration)
Fetal anomalies v2.0 PYCR1 Gene migrated from ENSG00000183010 to ENSG00000183010 (gene set migration)
Fetal anomalies v2.0 SHH Gene migrated from ENSG00000164690 to ENSG00000164690 (gene set migration)
Fetal anomalies v2.0 PSPH Gene migrated from ENSG00000146733 to ENSG00000146733 (gene set migration)
Fetal anomalies v2.0 POLR1D Gene migrated from ENSG00000186184 to ENSG00000186184 (gene set migration)
Fetal anomalies v2.0 RBM8A Gene migrated from ENSG00000265241 to ENSG00000265241 (gene set migration)
Fetal anomalies v2.0 PDGFRB Gene migrated from ENSG00000113721 to ENSG00000113721 (gene set migration)
Fetal anomalies v2.0 DOCK6 Gene migrated from ENSG00000130158 to ENSG00000130158 (gene set migration)
Fetal anomalies v2.0 DNMT3A Gene migrated from ENSG00000119772 to ENSG00000119772 (gene set migration)
Fetal anomalies v2.0 AGK Gene migrated from ENSG00000006530 to ENSG00000006530 (gene set migration)
Fetal anomalies v2.0 SIL1 Gene migrated from ENSG00000120725 to ENSG00000120725 (gene set migration)
Fetal anomalies v2.0 LOXL3 Gene migrated from ENSG00000115318 to ENSG00000115318 (gene set migration)
Fetal anomalies v2.0 NHEJ1 Gene migrated from ENSG00000187736 to ENSG00000187736 (gene set migration)
Fetal anomalies v2.0 CSMD1 Gene migrated from ENSG00000183117 to ENSG00000183117 (gene set migration)
Fetal anomalies v2.0 GFAP Gene migrated from ENSG00000131095 to ENSG00000131095 (gene set migration)
Fetal anomalies v2.0 HYAL2 Gene migrated from ENSG00000068001 to ENSG00000068001 (gene set migration)
Fetal anomalies v2.0 SIX3 Gene migrated from ENSG00000138083 to ENSG00000138083 (gene set migration)
Fetal anomalies v2.0 ACTG1 Gene migrated from ENSG00000184009 to ENSG00000184009 (gene set migration)
Fetal anomalies v2.0 NF1 Gene migrated from ENSG00000196712 to ENSG00000196712 (gene set migration)
Fetal anomalies v2.0 SLC10A7 Gene migrated from ENSG00000120519 to ENSG00000120519 (gene set migration)
Fetal anomalies v2.0 ZMYND8 Gene migrated from ENSG00000101040 to ENSG00000101040 (gene set migration)
Fetal anomalies v2.0 SLC2A10 Gene migrated from ENSG00000197496 to ENSG00000197496 (gene set migration)
Fetal anomalies v2.0 EIF5A Gene migrated from ENSG00000132507 to ENSG00000132507 (gene set migration)
Fetal anomalies v2.0 CTSA Gene migrated from ENSG00000064601 to ENSG00000064601 (gene set migration)
Fetal anomalies v2.0 NEU1 Gene migrated from ENSG00000204386 to ENSG00000204386 (gene set migration)
Fetal anomalies v2.0 NDE1 Gene migrated from ENSG00000072864 to ENSG00000072864 (gene set migration)
Fetal anomalies v2.0 CSPP1 Gene migrated from ENSG00000104218 to ENSG00000104218 (gene set migration)
Fetal anomalies v2.0 PKD1 Gene migrated from ENSG00000008710 to ENSG00000008710 (gene set migration)
Fetal anomalies v2.0 EIF3B Gene migrated from ENSG00000106263 to ENSG00000106263 (gene set migration)
Fetal anomalies v2.0 EIF3A Gene migrated from ENSG00000107581 to ENSG00000107581 (gene set migration)
Fetal anomalies v2.0 ANKRD11 Gene migrated from ENSG00000167522 to ENSG00000167522 (gene set migration)
Fetal anomalies v2.0 SMARCB1 Gene migrated from ENSG00000099956 to ENSG00000099956 (gene set migration)
Fetal anomalies v2.0 CRYBB2 Gene migrated from ENSG00000244752 to ENSG00000244752 (gene set migration)
Fetal anomalies v2.0 TG Gene migrated from ENSG00000042832 to ENSG00000042832 (gene set migration)
Fetal anomalies v2.0 DLX5 Gene migrated from ENSG00000105880 to ENSG00000105880 (gene set migration)
Fetal anomalies v2.0 ATN1 Gene migrated from ENSG00000111676 to ENSG00000111676 (gene set migration)
Fetal anomalies v2.0 NFIA Gene migrated from ENSG00000162599 to ENSG00000162599 (gene set migration)
Fetal anomalies v2.0 MIA3 Gene migrated from ENSG00000154305 to ENSG00000154305 (gene set migration)
Fetal anomalies v2.0 CRYBA4 Gene migrated from ENSG00000196431 to ENSG00000196431 (gene set migration)
Fetal anomalies v2.0 GLIS2 Gene migrated from ENSG00000126603 to ENSG00000126603 (gene set migration)
Fetal anomalies v2.0 CRYAA Gene migrated from ENSG00000160202 to ENSG00000160202 (gene set migration)
Fetal anomalies v2.0 ZMIZ1 Gene migrated from ENSG00000108175 to ENSG00000108175 (gene set migration)
Fetal anomalies v2.0 POLE Gene migrated from ENSG00000177084 to ENSG00000177084 (gene set migration)
Fetal anomalies v2.0 PRF1 Gene migrated from ENSG00000180644 to ENSG00000180644 (gene set migration)
Fetal anomalies v2.0 ALPK3 Gene migrated from ENSG00000136383 to ENSG00000136383 (gene set migration)
Fetal anomalies v2.0 LAGE3 Gene migrated from ENSG00000196976 to ENSG00000196976 (gene set migration)
Fetal anomalies v2.0 TOR1AIP1 Gene migrated from ENSG00000143337 to ENSG00000143337 (gene set migration)
Fetal anomalies v2.0 ORAI1 Gene migrated from ENSG00000276045 to ENSG00000276045 (gene set migration)
Fetal anomalies v2.0 PAM16 Gene migrated from ENSG00000217930 to ENSG00000217930 (gene set migration)
Fetal anomalies v2.0 SMO Gene migrated from ENSG00000128602 to ENSG00000128602 (gene set migration)
Fetal anomalies v2.0 ANKLE2 Gene migrated from ENSG00000176915 to ENSG00000176915 (gene set migration)
Fetal anomalies v2.0 IQCE Gene migrated from ENSG00000106012 to ENSG00000106012 (gene set migration)
Fetal anomalies v2.0 IFT27 Gene migrated from ENSG00000100360 to ENSG00000100360 (gene set migration)
Fetal anomalies v2.0 NEK9 Gene migrated from ENSG00000119638 to ENSG00000119638 (gene set migration)
Fetal anomalies v2.0 GRK2 Gene migrated from ENSG00000173020 to ENSG00000173020 (gene set migration)
Fetal anomalies v2.0 PTBP1 Gene migrated from ENSG00000011304 to ENSG00000011304 (gene set migration)
Fetal anomalies v2.0 GSPT2 Gene migrated from ENSG00000189369 to ENSG00000189369 (gene set migration)
Fetal anomalies v2.0 ESRP2 Gene migrated from ENSG00000103067 to ENSG00000103067 (gene set migration)
Fetal anomalies v2.0 KIF21A Gene migrated from ENSG00000139116 to ENSG00000139116 (gene set migration)
Fetal anomalies v2.0 KIF21B Gene migrated from ENSG00000116852 to ENSG00000116852 (gene set migration)
Fetal anomalies v2.0 SLC39A8 Gene migrated from ENSG00000138821 to ENSG00000138821 (gene set migration)
Fetal anomalies v2.0 DMRT2 Gene migrated from ENSG00000173253 to ENSG00000173253 (gene set migration)
Fetal anomalies v2.0 DAW1 Gene migrated from ENSG00000123977 to ENSG00000123977 (gene set migration)
Fetal anomalies v2.0 CRPPA Gene symbol changed from ISPD to CRPPA during gene set migration (ENSG00000214960 -> ENSG00000214960)
Fetal anomalies v2.0 BORCS5 Gene migrated from ENSG00000165714 to ENSG00000165714 (gene set migration)
Fetal anomalies v2.0 PLAT Gene migrated from ENSG00000104368 to ENSG00000104368 (gene set migration)
Fetal anomalies v2.0 PDCD6IP Gene migrated from ENSG00000170248 to ENSG00000170248 (gene set migration)
Fetal anomalies v2.0 NR6A1 Gene migrated from ENSG00000148200 to ENSG00000148200 (gene set migration)
Fetal anomalies v2.0 WDR91 Gene migrated from ENSG00000105875 to ENSG00000105875 (gene set migration)
Fetal anomalies v2.0 WSB2 Gene migrated from ENSG00000176871 to ENSG00000176871 (gene set migration)
Fetal anomalies v2.0 IFT56 Gene symbol changed from TTC26 to IFT56 during gene set migration (ENSG00000105948 -> ENSG00000105948)
Fetal anomalies v2.0 TOGARAM1 Gene migrated from ENSG00000198718 to ENSG00000198718 (gene set migration)
Fetal anomalies v2.0 IFT81 Gene migrated from ENSG00000122970 to ENSG00000122970 (gene set migration)
Fetal anomalies v2.0 SCNM1 Gene migrated from ENSG00000163156 to ENSG00000163156 (gene set migration)
Fetal anomalies v2.0 GPKOW Gene migrated from ENSG00000068394 to ENSG00000068394 (gene set migration)
Fetal anomalies v2.0 MYRF Gene migrated from ENSG00000124920 to ENSG00000124920 (gene set migration)
Fetal anomalies v2.0 GRIN2B Gene migrated from ENSG00000273079 to ENSG00000273079 (gene set migration)
Fetal anomalies v2.0 DISP1 Gene migrated from ENSG00000154309 to ENSG00000154309 (gene set migration)
Fetal anomalies v2.0 GNPTAB Gene migrated from ENSG00000111670 to ENSG00000111670 (gene set migration)
Fetal anomalies v2.0 MYH10 Gene migrated from ENSG00000133026 to ENSG00000133026 (gene set migration)
Fetal anomalies v2.0 PIP5K1C Gene migrated from ENSG00000186111 to ENSG00000186111 (gene set migration)
Fetal anomalies v2.0 PSMF1 Gene migrated from ENSG00000125818 to ENSG00000125818 (gene set migration)
Fetal anomalies v2.0 ADAMTS15 Gene migrated from ENSG00000166106 to ENSG00000166106 (gene set migration)
Fetal anomalies v2.0 KDM6B Gene migrated from ENSG00000132510 to ENSG00000132510 (gene set migration)
Fetal anomalies v2.0 ARHGAP29 Gene migrated from ENSG00000137962 to ENSG00000137962 (gene set migration)
Fetal anomalies v2.0 CUL3 Gene migrated from ENSG00000036257 to ENSG00000036257 (gene set migration)
Fetal anomalies v2.0 PHF5A Gene migrated from ENSG00000100410 to ENSG00000100410 (gene set migration)
Fetal anomalies v2.0 FUZ Gene migrated from ENSG00000010361 to ENSG00000010361 (gene set migration)
Fetal anomalies v2.0 LDB1 Gene migrated from ENSG00000198728 to ENSG00000198728 (gene set migration)
Fetal anomalies v2.0 USP9X Gene migrated from ENSG00000124486 to ENSG00000124486 (gene set migration)
Fetal anomalies v2.0 PPP2R5D Gene migrated from ENSG00000112640 to ENSG00000112640 (gene set migration)
Fetal anomalies v2.0 THOC2 Gene migrated from ENSG00000125676 to ENSG00000125676 (gene set migration)
Fetal anomalies v2.0 RBFOX2 Gene migrated from ENSG00000100320 to ENSG00000100320 (gene set migration)
Fetal anomalies v2.0 SLC20A1 Gene migrated from ENSG00000144136 to ENSG00000144136 (gene set migration)
Fetal anomalies v2.0 RAB34 Gene migrated from ENSG00000109113 to ENSG00000109113 (gene set migration)
Fetal anomalies v2.0 DLG5 Gene migrated from ENSG00000151208 to ENSG00000151208 (gene set migration)
Fetal anomalies v2.0 WDR44 Gene migrated from ENSG00000131725 to ENSG00000131725 (gene set migration)
Fetal anomalies v2.0 CIROP Gene symbol changed from AL117258.1 to CIROP during gene set migration (ENSG00000283654 -> ENSG00000283654)
Fetal anomalies v2.0 MAP4K4 Gene migrated from ENSG00000071054 to ENSG00000071054 (gene set migration)
Fetal anomalies v2.0 RASA1 Gene migrated from ENSG00000145715 to ENSG00000145715 (gene set migration)
Fetal anomalies v2.0 SCN4A Gene migrated from ENSG00000007314 to ENSG00000007314 (gene set migration)
Fetal anomalies v2.0 HSPG2 Gene migrated from ENSG00000142798 to ENSG00000142798 (gene set migration)
Fetal anomalies v2.0 VPS35L Gene symbol changed from C16orf62 to VPS35L during gene set migration (ENSG00000103544 -> ENSG00000103544)
Fetal anomalies v2.0 PKP2 Gene migrated from ENSG00000057294 to ENSG00000057294 (gene set migration)
Fetal anomalies v2.0 FILIP1 Gene migrated from ENSG00000118407 to ENSG00000118407 (gene set migration)
Fetal anomalies v2.0 WBP4 Gene migrated from ENSG00000120688 to ENSG00000120688 (gene set migration)
Fetal anomalies v2.0 PLXND1 Gene migrated from ENSG00000004399 to ENSG00000004399 (gene set migration)
Fetal anomalies v2.0 CLXN Gene symbol changed from EFCAB1 to CLXN during gene set migration (ENSG00000034239 -> ENSG00000034239)
Fetal anomalies v2.0 SHROOM4 Gene migrated from ENSG00000158352 to ENSG00000158352 (gene set migration)
Fetal anomalies v2.0 KCNK3 Gene migrated from ENSG00000171303 to ENSG00000171303 (gene set migration)
Fetal anomalies v2.0 EXOC3L2 Gene migrated from ENSG00000283632 to ENSG00000283632 (gene set migration)
Fetal anomalies v2.0 NEK1 Gene migrated from ENSG00000137601 to ENSG00000137601 (gene set migration)
Fetal anomalies v2.0 CCDC40 Gene migrated from ENSG00000141519 to ENSG00000141519 (gene set migration)
Fetal anomalies v2.0 CCDC39 Gene migrated from ENSG00000145075 to ENSG00000284862 (gene set migration)
Fetal anomalies v2.0 ODAD1 Gene symbol changed from CCDC114 to ODAD1 during gene set migration (ENSG00000105479 -> ENSG00000105479)
Fetal anomalies v2.0 DNAAF19 Gene symbol changed from CCDC103 to DNAAF19 during gene set migration (ENSG00000167131 -> ENSG00000167131)
Fetal anomalies v2.0 CBL Gene migrated from ENSG00000110395 to ENSG00000110395 (gene set migration)
Fetal anomalies v2.0 CACNA1E Gene migrated from ENSG00000198216 to ENSG00000198216 (gene set migration)
Fetal anomalies v2.0 CASK Gene migrated from ENSG00000147044 to ENSG00000147044 (gene set migration)
Fetal anomalies v2.0 CACNA1C Gene migrated from ENSG00000151067 to ENSG00000151067 (gene set migration)
Fetal anomalies v2.0 BUB1B Gene migrated from ENSG00000156970 to ENSG00000156970 (gene set migration)
Fetal anomalies v2.0 BRPF1 Gene migrated from ENSG00000156983 to ENSG00000156983 (gene set migration)
Fetal anomalies v2.0 BRIP1 Gene migrated from ENSG00000136492 to ENSG00000136492 (gene set migration)
Fetal anomalies v2.0 BRCA2 Gene migrated from ENSG00000139618 to ENSG00000139618 (gene set migration)
Fetal anomalies v2.0 BRAT1 Gene migrated from ENSG00000106009 to ENSG00000106009 (gene set migration)
Fetal anomalies v2.0 BMP1 Gene migrated from ENSG00000168487 to ENSG00000168487 (gene set migration)
Fetal anomalies v2.0 BLM Gene migrated from ENSG00000197299 to ENSG00000197299 (gene set migration)
Fetal anomalies v2.0 BIN1 Gene migrated from ENSG00000136717 to ENSG00000136717 (gene set migration)
Fetal anomalies v2.0 BHLHA9 Gene migrated from ENSG00000205899 to ENSG00000205899 (gene set migration)
Fetal anomalies v2.0 BCL11A Gene migrated from ENSG00000119866 to ENSG00000119866 (gene set migration)
Fetal anomalies v2.0 BCAP31 Gene migrated from ENSG00000185825 to ENSG00000185825 (gene set migration)
Fetal anomalies v2.0 BBS9 Gene migrated from ENSG00000122507 to ENSG00000122507 (gene set migration)
Fetal anomalies v2.0 BBS7 Gene migrated from ENSG00000138686 to ENSG00000138686 (gene set migration)
Fetal anomalies v2.0 BBS5 Gene migrated from ENSG00000163093 to ENSG00000163093 (gene set migration)
Fetal anomalies v2.0 BBS1 Gene migrated from ENSG00000174483 to ENSG00000174483 (gene set migration)
Fetal anomalies v2.0 B4GALT7 Gene migrated from ENSG00000027847 to ENSG00000027847 (gene set migration)
Fetal anomalies v2.0 DIS3L2 Gene migrated from ENSG00000144535 to ENSG00000144535 (gene set migration)
Fetal anomalies v2.0 DHODH Gene migrated from ENSG00000102967 to ENSG00000102967 (gene set migration)
Fetal anomalies v2.0 DDX3X Gene migrated from ENSG00000215301 to ENSG00000215301 (gene set migration)
Fetal anomalies v2.0 DCHS1 Gene migrated from ENSG00000166341 to ENSG00000166341 (gene set migration)
Fetal anomalies v2.0 HIBCH Gene migrated from ENSG00000198130 to ENSG00000198130 (gene set migration)
Fetal anomalies v2.0 TOP2B Gene migrated from ENSG00000077097 to ENSG00000077097 (gene set migration)
Fetal anomalies v2.0 ATP7A Gene migrated from ENSG00000165240 to ENSG00000165240 (gene set migration)
Fetal anomalies v2.0 ATP6V0A2 Gene migrated from ENSG00000185344 to ENSG00000185344 (gene set migration)
Fetal anomalies v2.0 ATIC Gene migrated from ENSG00000138363 to ENSG00000138363 (gene set migration)
Fetal anomalies v2.0 ATAD3A Gene migrated from ENSG00000197785 to ENSG00000197785 (gene set migration)
Fetal anomalies v2.0 ARL13B Gene migrated from ENSG00000169379 to ENSG00000169379 (gene set migration)
Fetal anomalies v2.0 ARHGAP31 Gene migrated from ENSG00000031081 to ENSG00000031081 (gene set migration)
Fetal anomalies v2.0 AP4E1 Gene migrated from ENSG00000081014 to ENSG00000081014 (gene set migration)
Fetal anomalies v2.0 ATAD1 Gene migrated from ENSG00000138138 to ENSG00000138138 (gene set migration)
Fetal anomalies v2.0 ADCY6 Gene migrated from ENSG00000174233 to ENSG00000174233 (gene set migration)
Fetal anomalies v2.0 AP1S2 Gene migrated from ENSG00000182287 to ENSG00000182287 (gene set migration)
Fetal anomalies v2.0 ASPA Gene migrated from ENSG00000108381 to ENSG00000108381 (gene set migration)
Fetal anomalies v2.0 ANTXR1 Gene migrated from ENSG00000169604 to ENSG00000169604 (gene set migration)
Fetal anomalies v2.0 ARL6 Gene migrated from ENSG00000113966 to ENSG00000113966 (gene set migration)
Fetal anomalies v2.0 ITGA3 Gene migrated from ENSG00000005884 to ENSG00000005884 (gene set migration)
Fetal anomalies v2.0 FAM111A Gene migrated from ENSG00000166801 to ENSG00000166801 (gene set migration)
Fetal anomalies v2.0 NSD2 Gene migrated from ENSG00000109685 to ENSG00000109685 (gene set migration)
Fetal anomalies v2.0 BICD2 Gene migrated from ENSG00000185963 to ENSG00000185963 (gene set migration)
Fetal anomalies v2.0 CCBE1 Gene migrated from ENSG00000183287 to ENSG00000183287 (gene set migration)
Fetal anomalies v2.0 AMPD2 Gene migrated from ENSG00000116337 to ENSG00000116337 (gene set migration)
Fetal anomalies v2.0 ALG3 Gene migrated from ENSG00000214160 to ENSG00000214160 (gene set migration)
Fetal anomalies v2.0 ALX4 Gene migrated from ENSG00000052850 to ENSG00000052850 (gene set migration)
Fetal anomalies v2.0 ALG12 Gene migrated from ENSG00000182858 to ENSG00000182858 (gene set migration)
Fetal anomalies v2.0 ALG1 Gene migrated from ENSG00000033011 to ENSG00000033011 (gene set migration)
Fetal anomalies v2.0 SMAD3 Gene migrated from ENSG00000166949 to ENSG00000166949 (gene set migration)
Fetal anomalies v2.0 ARMC9 Gene migrated from ENSG00000135931 to ENSG00000135931 (gene set migration)
Fetal anomalies v2.0 ALDH18A1 Gene migrated from ENSG00000059573 to ENSG00000059573 (gene set migration)
Fetal anomalies v2.0 AHI1 Gene migrated from ENSG00000135541 to ENSG00000135541 (gene set migration)
Fetal anomalies v2.0 AKT1 Gene migrated from ENSG00000142208 to ENSG00000142208 (gene set migration)
Fetal anomalies v2.0 AGT Gene migrated from ENSG00000135744 to ENSG00000135744 (gene set migration)
Fetal anomalies v2.0 ACAD9 Gene migrated from ENSG00000177646 to ENSG00000177646 (gene set migration)
Fetal anomalies v2.0 ABCC9 Gene migrated from ENSG00000069431 to ENSG00000069431 (gene set migration)
Fetal anomalies v2.0 ABCC6 Gene migrated from ENSG00000091262 to ENSG00000091262 (gene set migration)
Fetal anomalies v2.0 ABCA12 Gene migrated from ENSG00000144452 to ENSG00000144452 (gene set migration)
Fetal anomalies v2.0 IFT140 Gene migrated from ENSG00000187535 to ENSG00000187535 (gene set migration)
Fetal anomalies v2.0 PI4KA Gene migrated from ENSG00000241973 to ENSG00000241973 (gene set migration)
Fetal anomalies v2.0 SCN1A Gene migrated from ENSG00000144285 to ENSG00000144285 (gene set migration)
Fetal anomalies v2.0 MPZ Gene migrated from ENSG00000158887 to ENSG00000158887 (gene set migration)
Fetal anomalies v2.0 GNAO1 Gene migrated from ENSG00000087258 to ENSG00000087258 (gene set migration)
Fetal anomalies v2.0 GLIS3 Gene migrated from ENSG00000107249 to ENSG00000107249 (gene set migration)
Fetal anomalies v2.0 GLDN Gene migrated from ENSG00000186417 to ENSG00000186417 (gene set migration)
Fetal anomalies v2.0 GJA1 Gene migrated from ENSG00000152661 to ENSG00000152661 (gene set migration)
Fetal anomalies v2.0 ACTA1 Gene migrated from ENSG00000143632 to ENSG00000143632 (gene set migration)
Fetal anomalies v2.0 H3-3A Gene symbol changed from H3F3A to H3-3A during gene set migration (ENSG00000163041 -> ENSG00000163041)
Fetal anomalies v2.0 GHR Gene migrated from ENSG00000112964 to ENSG00000112964 (gene set migration)
Fetal anomalies v2.0 TWIST1 Gene migrated from ENSG00000122691 to ENSG00000122691 (gene set migration)
Fetal anomalies v2.0 BRCA1 Gene migrated from ENSG00000012048 to ENSG00000012048 (gene set migration)
Fetal anomalies v2.0 AUTS2 Gene migrated from ENSG00000158321 to ENSG00000158321 (gene set migration)
Fetal anomalies v2.0 ACVRL1 Gene migrated from ENSG00000139567 to ENSG00000139567 (gene set migration)
Fetal anomalies v2.0 ZSWIM6 Gene migrated from ENSG00000130449 to ENSG00000130449 (gene set migration)
Fetal anomalies v2.0 ZMYND10 Gene migrated from ENSG00000004838 to ENSG00000004838 (gene set migration)
Fetal anomalies v2.0 ZNF462 Gene migrated from ENSG00000148143 to ENSG00000148143 (gene set migration)
Fetal anomalies v2.0 XYLT2 Gene migrated from ENSG00000015532 to ENSG00000015532 (gene set migration)
Fetal anomalies v2.0 VAMP1 Gene migrated from ENSG00000139190 to ENSG00000139190 (gene set migration)
Fetal anomalies v2.0 GFRA1 Gene migrated from ENSG00000151892 to ENSG00000151892 (gene set migration)
Fetal anomalies v2.0 TUBB3 Gene migrated from ENSG00000258947 to ENSG00000258947 (gene set migration)
Fetal anomalies v2.0 TUFM Gene migrated from ENSG00000178952 to ENSG00000178952 (gene set migration)
Fetal anomalies v2.0 TUBG1 Gene migrated from ENSG00000131462 to ENSG00000131462 (gene set migration)
Fetal anomalies v2.0 TUBGCP4 Gene migrated from ENSG00000137822 to ENSG00000137822 (gene set migration)
Fetal anomalies v2.0 TXNDC15 Gene migrated from ENSG00000113621 to ENSG00000113621 (gene set migration)
Fetal anomalies v2.0 TSEN15 Gene migrated from ENSG00000198860 to ENSG00000198860 (gene set migration)
Fetal anomalies v2.0 TRMT10A Gene migrated from ENSG00000145331 to ENSG00000145331 (gene set migration)
Fetal anomalies v2.0 TRIO Gene migrated from ENSG00000038382 to ENSG00000038382 (gene set migration)
Fetal anomalies v2.0 TRAPPC12 Gene migrated from ENSG00000171853 to ENSG00000171853 (gene set migration)
Fetal anomalies v2.0 TMX2 Gene migrated from ENSG00000213593 to ENSG00000213593 (gene set migration)
Fetal anomalies v2.0 TMTC3 Gene migrated from ENSG00000139324 to ENSG00000139324 (gene set migration)
Fetal anomalies v2.0 GBE1 Gene migrated from ENSG00000114480 to ENSG00000114480 (gene set migration)
Fetal anomalies v2.0 TMEM98 Gene migrated from ENSG00000006042 to ENSG00000006042 (gene set migration)
Fetal anomalies v2.0 GBA1 Gene symbol changed from GBA to GBA1 during gene set migration (ENSG00000177628 -> ENSG00000177628)
Fetal anomalies v2.0 GATA6 Gene migrated from ENSG00000141448 to ENSG00000141448 (gene set migration)
Fetal anomalies v2.0 SZT2 Gene migrated from ENSG00000198198 to ENSG00000198198 (gene set migration)
Fetal anomalies v2.0 SYNE1 Gene migrated from ENSG00000131018 to ENSG00000131018 (gene set migration)
Fetal anomalies v2.0 FREM1 Gene migrated from ENSG00000164946 to ENSG00000164946 (gene set migration)
Fetal anomalies v2.0 SLC29A3 Gene migrated from ENSG00000198246 to ENSG00000198246 (gene set migration)
Fetal anomalies v2.0 SLC25A4 Gene migrated from ENSG00000151729 to ENSG00000151729 (gene set migration)
Fetal anomalies v2.0 FRAS1 Gene migrated from ENSG00000138759 to ENSG00000138759 (gene set migration)
Fetal anomalies v2.0 SGPL1 Gene migrated from ENSG00000166224 to ENSG00000166224 (gene set migration)
Fetal anomalies v2.0 SIN3A Gene migrated from ENSG00000169375 to ENSG00000169375 (gene set migration)
Fetal anomalies v2.0 SETD2 Gene migrated from ENSG00000181555 to ENSG00000181555 (gene set migration)
Fetal anomalies v2.0 RRAS2 Gene migrated from ENSG00000133818 to ENSG00000133818 (gene set migration)
Fetal anomalies v2.0 RPS7 Gene migrated from ENSG00000171863 to ENSG00000171863 (gene set migration)
Fetal anomalies v2.0 RPS24 Gene migrated from ENSG00000138326 to ENSG00000138326 (gene set migration)
Fetal anomalies v2.0 RPL35A Gene migrated from ENSG00000182899 to ENSG00000182899 (gene set migration)
Fetal anomalies v2.0 RPL10 Gene migrated from ENSG00000147403 to ENSG00000147403 (gene set migration)
Fetal anomalies v2.0 ROBO3 Gene migrated from ENSG00000154134 to ENSG00000154134 (gene set migration)
Fetal anomalies v2.0 RIN2 Gene migrated from ENSG00000132669 to ENSG00000132669 (gene set migration)
Fetal anomalies v2.0 QARS1 Gene symbol changed from QARS to QARS1 during gene set migration (ENSG00000172053 -> ENSG00000172053)
Fetal anomalies v2.0 FOXE3 Gene migrated from ENSG00000186790 to ENSG00000186790 (gene set migration)
Fetal anomalies v2.0 PSAT1 Gene migrated from ENSG00000135069 to ENSG00000135069 (gene set migration)
Fetal anomalies v2.0 PXDN Gene migrated from ENSG00000130508 to ENSG00000130508 (gene set migration)
Fetal anomalies v2.0 POLR1A Gene migrated from ENSG00000068654 to ENSG00000068654 (gene set migration)
Fetal anomalies v2.0 MAPK8IP3 Gene migrated from ENSG00000138834 to ENSG00000138834 (gene set migration)
Fetal anomalies v2.0 PTPN14 Gene migrated from ENSG00000152104 to ENSG00000152104 (gene set migration)
Fetal anomalies v2.0 PLAG1 Gene migrated from ENSG00000181690 to ENSG00000181690 (gene set migration)
Fetal anomalies v2.0 PLAA Gene migrated from ENSG00000137055 to ENSG00000137055 (gene set migration)
Fetal anomalies v2.0 PIK3C2A Gene migrated from ENSG00000011405 to ENSG00000011405 (gene set migration)
Fetal anomalies v2.0 PITX1 Gene migrated from ENSG00000069011 to ENSG00000069011 (gene set migration)
Fetal anomalies v2.0 PHF21A Gene migrated from ENSG00000135365 to ENSG00000135365 (gene set migration)
Fetal anomalies v2.0 OTUD6B Gene migrated from ENSG00000155100 to ENSG00000155100 (gene set migration)
Fetal anomalies v2.0 P4HB Gene migrated from ENSG00000185624 to ENSG00000185624 (gene set migration)
Fetal anomalies v2.0 PACS1 Gene migrated from ENSG00000175115 to ENSG00000175115 (gene set migration)
Fetal anomalies v2.0 SHMT2 Gene migrated from ENSG00000182199 to ENSG00000182199 (gene set migration)
Fetal anomalies v2.0 NEK8 Gene migrated from ENSG00000160602 to ENSG00000160602 (gene set migration)
Fetal anomalies v2.0 NECTIN1 Gene migrated from ENSG00000110400 to ENSG00000110400 (gene set migration)
Fetal anomalies v2.0 NADSYN1 Gene migrated from ENSG00000172890 to ENSG00000172890 (gene set migration)
Fetal anomalies v2.0 MYOCD Gene migrated from ENSG00000141052 to ENSG00000141052 (gene set migration)
Fetal anomalies v2.0 MAP1B Gene migrated from ENSG00000131711 to ENSG00000131711 (gene set migration)
Fetal anomalies v2.0 MYH2 Gene migrated from ENSG00000125414 to ENSG00000125414 (gene set migration)
Fetal anomalies v2.0 MSTO1 Gene migrated from ENSG00000125459 to ENSG00000125459 (gene set migration)
Fetal anomalies v2.0 MSMO1 Gene migrated from ENSG00000052802 to ENSG00000052802 (gene set migration)
Fetal anomalies v2.0 MRAS Gene migrated from ENSG00000158186 to ENSG00000158186 (gene set migration)
Fetal anomalies v2.0 MOGS Gene migrated from ENSG00000115275 to ENSG00000115275 (gene set migration)
Fetal anomalies v2.0 MN1 Gene migrated from ENSG00000169184 to ENSG00000169184 (gene set migration)
Fetal anomalies v2.0 MEOX1 Gene migrated from ENSG00000005102 to ENSG00000005102 (gene set migration)
Fetal anomalies v2.0 MESD Gene migrated from ENSG00000117899 to ENSG00000117899 (gene set migration)
Fetal anomalies v2.0 MAP3K7 Gene migrated from ENSG00000135341 to ENSG00000135341 (gene set migration)
Fetal anomalies v2.0 LRIG2 Gene migrated from ENSG00000198799 to ENSG00000198799 (gene set migration)
Fetal anomalies v2.0 LONP1 Gene migrated from ENSG00000196365 to ENSG00000196365 (gene set migration)
Fetal anomalies v2.0 PDE3A Gene migrated from ENSG00000172572 to ENSG00000172572 (gene set migration)
Fetal anomalies v2.0 SKI Gene migrated from ENSG00000157933 to ENSG00000157933 (gene set migration)
Fetal anomalies v2.0 LAMB1 Gene migrated from ENSG00000091136 to ENSG00000091136 (gene set migration)
Fetal anomalies v2.0 KIDINS220 Gene migrated from ENSG00000134313 to ENSG00000134313 (gene set migration)
Fetal anomalies v2.0 KDM1A Gene migrated from ENSG00000004487 to ENSG00000004487 (gene set migration)
Fetal anomalies v2.0 KCNH1 Gene migrated from ENSG00000143473 to ENSG00000143473 (gene set migration)
Fetal anomalies v2.0 KCNJ8 Gene migrated from ENSG00000121361 to ENSG00000121361 (gene set migration)
Fetal anomalies v2.0 IRX5 Gene migrated from ENSG00000176842 to ENSG00000176842 (gene set migration)
Fetal anomalies v2.0 CILK1 Gene symbol changed from ICK to CILK1 during gene set migration (ENSG00000112144 -> ENSG00000112144)
Fetal anomalies v2.0 HMX1 Gene migrated from ENSG00000215612 to ENSG00000215612 (gene set migration)
Fetal anomalies v2.0 HMGA2 Gene migrated from ENSG00000149948 to ENSG00000149948 (gene set migration)
Fetal anomalies v2.0 GSC Gene migrated from ENSG00000133937 to ENSG00000133937 (gene set migration)
Fetal anomalies v2.0 GREB1L Gene migrated from ENSG00000141449 to ENSG00000141449 (gene set migration)
Fetal anomalies v2.0 GABRB2 Gene migrated from ENSG00000145864 to ENSG00000145864 (gene set migration)
Fetal anomalies v2.0 GATA3 Gene migrated from ENSG00000107485 to ENSG00000107485 (gene set migration)
Fetal anomalies v2.0 ZNF335 Gene migrated from ENSG00000198026 to ENSG00000198026 (gene set migration)
Fetal anomalies v2.0 FZD2 Gene migrated from ENSG00000180340 to ENSG00000180340 (gene set migration)
Fetal anomalies v2.0 FUT8 Gene migrated from ENSG00000033170 to ENSG00000033170 (gene set migration)
Fetal anomalies v2.0 FGF9 Gene migrated from ENSG00000102678 to ENSG00000102678 (gene set migration)
Fetal anomalies v2.0 FIG4 Gene migrated from ENSG00000112367 to ENSG00000112367 (gene set migration)
Fetal anomalies v2.0 EED Gene migrated from ENSG00000074266 to ENSG00000074266 (gene set migration)
Fetal anomalies v2.0 DYNC2LI1 Gene migrated from ENSG00000138036 to ENSG00000138036 (gene set migration)
Fetal anomalies v2.0 DPM2 Gene migrated from ENSG00000136908 to ENSG00000136908 (gene set migration)
Fetal anomalies v2.0 DPH1 Gene migrated from ENSG00000108963 to ENSG00000108963 (gene set migration)
Fetal anomalies v2.0 DONSON Gene migrated from ENSG00000159147 to ENSG00000159147 (gene set migration)
Fetal anomalies v2.0 DENND5A Gene migrated from ENSG00000184014 to ENSG00000184014 (gene set migration)
Fetal anomalies v2.0 IGF1R Gene migrated from ENSG00000140443 to ENSG00000140443 (gene set migration)
Fetal anomalies v2.0 CTNND1 Gene migrated from ENSG00000198561 to ENSG00000198561 (gene set migration)
Fetal anomalies v2.0 CTDP1 Gene migrated from ENSG00000060069 to ENSG00000060069 (gene set migration)
Fetal anomalies v2.0 CTU2 Gene migrated from ENSG00000174177 to ENSG00000174177 (gene set migration)
Fetal anomalies v2.0 IGF1 Gene migrated from ENSG00000017427 to ENSG00000017427 (gene set migration)
Fetal anomalies v2.0 COLEC10 Gene migrated from ENSG00000184374 to ENSG00000184374 (gene set migration)
Fetal anomalies v2.0 COL13A1 Gene migrated from ENSG00000197467 to ENSG00000197467 (gene set migration)
Fetal anomalies v2.0 COL12A1 Gene migrated from ENSG00000111799 to ENSG00000111799 (gene set migration)
Fetal anomalies v2.0 IFT172 Gene migrated from ENSG00000138002 to ENSG00000138002 (gene set migration)
Fetal anomalies v2.0 CHRNE Gene migrated from ENSG00000108556 to ENSG00000108556 (gene set migration)
Fetal anomalies v2.0 CIT Gene migrated from ENSG00000122966 to ENSG00000122966 (gene set migration)
Fetal anomalies v2.0 CHRNB1 Gene migrated from ENSG00000170175 to ENSG00000170175 (gene set migration)
Fetal anomalies v2.0 TUBA1A Gene migrated from ENSG00000167552 to ENSG00000167552 (gene set migration)
Fetal anomalies v2.0 TUBB Gene migrated from ENSG00000196230 to ENSG00000196230 (gene set migration)
Fetal anomalies v2.0 FLNB Gene migrated from ENSG00000136068 to ENSG00000136068 (gene set migration)
Fetal anomalies v2.0 TTN Gene migrated from ENSG00000155657 to ENSG00000155657 (gene set migration)
Fetal anomalies v2.0 VPS53 Gene migrated from ENSG00000141252 to ENSG00000141252 (gene set migration)
Fetal anomalies v2.0 TRRAP Gene migrated from ENSG00000196367 to ENSG00000196367 (gene set migration)
Fetal anomalies v2.0 PITX3 Gene migrated from ENSG00000107859 to ENSG00000107859 (gene set migration)
Fetal anomalies v2.0 PRG4 Gene migrated from ENSG00000116690 to ENSG00000116690 (gene set migration)
Fetal anomalies v2.0 ADAMTS19 Gene migrated from ENSG00000145808 to ENSG00000145808 (gene set migration)
Fetal anomalies v2.0 PRMT7 Gene migrated from ENSG00000132600 to ENSG00000132600 (gene set migration)
Fetal anomalies v2.0 WNT10B Gene migrated from ENSG00000169884 to ENSG00000169884 (gene set migration)
Fetal anomalies v2.0 POMGNT1 Gene migrated from ENSG00000085998 to ENSG00000085998 (gene set migration)
Fetal anomalies v2.0 POMGNT2 Gene migrated from ENSG00000144647 to ENSG00000144647 (gene set migration)
Fetal anomalies v2.0 PMM2 Gene migrated from ENSG00000140650 to ENSG00000140650 (gene set migration)
Fetal anomalies v2.0 POC1A Gene migrated from ENSG00000164087 to ENSG00000164087 (gene set migration)
Fetal anomalies v2.0 PNKP Gene migrated from ENSG00000039650 to ENSG00000039650 (gene set migration)
Fetal anomalies v2.0 POGZ Gene migrated from ENSG00000143442 to ENSG00000143442 (gene set migration)
Fetal anomalies v2.0 PKHD1 Gene migrated from ENSG00000170927 to ENSG00000170927 (gene set migration)
Fetal anomalies v2.0 PKLR Gene migrated from ENSG00000143627 to ENSG00000143627 (gene set migration)
Fetal anomalies v2.0 PLOD1 Gene migrated from ENSG00000083444 to ENSG00000083444 (gene set migration)
Fetal anomalies v2.0 PIEZO1 Gene migrated from ENSG00000103335 to ENSG00000103335 (gene set migration)
Fetal anomalies v2.0 PHF8 Gene migrated from ENSG00000172943 to ENSG00000172943 (gene set migration)
Fetal anomalies v2.0 PHGDH Gene migrated from ENSG00000092621 to ENSG00000092621 (gene set migration)
Fetal anomalies v2.0 PHOX2B Gene migrated from ENSG00000109132 to ENSG00000109132 (gene set migration)
Fetal anomalies v2.0 PAX6 Gene migrated from ENSG00000007372 to ENSG00000007372 (gene set migration)
Fetal anomalies v2.0 STK4 Gene migrated from ENSG00000101109 to ENSG00000101109 (gene set migration)
Fetal anomalies v2.0 PCGF2 Gene migrated from ENSG00000277258 to ENSG00000277258 (gene set migration)
Fetal anomalies v2.0 PCNT Gene migrated from ENSG00000160299 to ENSG00000160299 (gene set migration)
Fetal anomalies v2.0 PAX3 Gene migrated from ENSG00000135903 to ENSG00000135903 (gene set migration)
Fetal anomalies v2.0 PAX2 Gene migrated from ENSG00000075891 to ENSG00000075891 (gene set migration)
Fetal anomalies v2.0 EZH2 Gene migrated from ENSG00000106462 to ENSG00000106462 (gene set migration)
Fetal anomalies v2.0 PARN Gene migrated from ENSG00000140694 to ENSG00000140694 (gene set migration)
Fetal anomalies v2.0 SPRED2 Gene migrated from ENSG00000198369 to ENSG00000198369 (gene set migration)
Fetal anomalies v2.0 OBSL1 Gene migrated from ENSG00000124006 to ENSG00000124006 (gene set migration)
Fetal anomalies v2.0 NUBPL Gene migrated from ENSG00000151413 to ENSG00000151413 (gene set migration)
Fetal anomalies v2.0 NUP107 Gene migrated from ENSG00000111581 to ENSG00000111581 (gene set migration)
Fetal anomalies v2.0 EXT1 Gene migrated from ENSG00000182197 to ENSG00000182197 (gene set migration)
Fetal anomalies v2.0 PEX16 Gene migrated from ENSG00000121680 to ENSG00000121680 (gene set migration)
Fetal anomalies v2.0 NR5A1 Gene migrated from ENSG00000136931 to ENSG00000136931 (gene set migration)
Fetal anomalies v2.0 NPHS1 Gene migrated from ENSG00000161270 to ENSG00000161270 (gene set migration)
Fetal anomalies v2.0 NPHP4 Gene migrated from ENSG00000131697 to ENSG00000131697 (gene set migration)
Fetal anomalies v2.0 OCRL Gene migrated from ENSG00000122126 to ENSG00000122126 (gene set migration)
Fetal anomalies v2.0 NDP Gene migrated from ENSG00000124479 to ENSG00000124479 (gene set migration)
Fetal anomalies v2.0 XYLT1 Gene migrated from ENSG00000103489 to ENSG00000103489 (gene set migration)
Fetal anomalies v2.0 PRKACB Gene migrated from ENSG00000142875 to ENSG00000142875 (gene set migration)
Fetal anomalies v2.0 ETFA Gene migrated from ENSG00000140374 to ENSG00000140374 (gene set migration)
Fetal anomalies v2.0 NACC1 Gene migrated from ENSG00000160877 to ENSG00000160877 (gene set migration)
Fetal anomalies v2.0 PRKACA Gene migrated from ENSG00000072062 to ENSG00000072062 (gene set migration)
Fetal anomalies v2.0 ETFB Gene migrated from ENSG00000105379 to ENSG00000105379 (gene set migration)
Fetal anomalies v2.0 MYH11 Gene migrated from ENSG00000133392 to ENSG00000133392 (gene set migration)
Fetal anomalies v2.0 ERCC5 Gene migrated from ENSG00000134899 to ENSG00000134899 (gene set migration)
Fetal anomalies v2.0 ZC4H2 Gene migrated from ENSG00000126970 to ENSG00000126970 (gene set migration)
Fetal anomalies v2.0 MTO1 Gene migrated from ENSG00000135297 to ENSG00000135297 (gene set migration)
Fetal anomalies v2.0 ERCC1 Gene migrated from ENSG00000012061 to ENSG00000012061 (gene set migration)
Fetal anomalies v2.0 EPG5 Gene migrated from ENSG00000152223 to ENSG00000152223 (gene set migration)
Fetal anomalies v2.0 MSX1 Gene migrated from ENSG00000163132 to ENSG00000163132 (gene set migration)
Fetal anomalies v2.0 MSX2 Gene migrated from ENSG00000120149 to ENSG00000120149 (gene set migration)
Fetal anomalies v2.0 MRPS22 Gene migrated from ENSG00000175110 to ENSG00000175110 (gene set migration)
Fetal anomalies v2.0 MOCS1 Gene migrated from ENSG00000124615 to ENSG00000124615 (gene set migration)
Fetal anomalies v2.0 MOCS2 Gene migrated from ENSG00000164172 to ENSG00000164172 (gene set migration)
Fetal anomalies v2.0 HYLS1 Gene migrated from ENSG00000198331 to ENSG00000198331 (gene set migration)
Fetal anomalies v2.0 MLYCD Gene migrated from ENSG00000103150 to ENSG00000103150 (gene set migration)
Fetal anomalies v2.0 MLC1 Gene migrated from ENSG00000100427 to ENSG00000100427 (gene set migration)
Fetal anomalies v2.0 HSD17B4 Gene migrated from ENSG00000133835 to ENSG00000133835 (gene set migration)
Fetal anomalies v2.0 MESP2 Gene migrated from ENSG00000188095 to ENSG00000188095 (gene set migration)
Fetal anomalies v2.0 HSPA9 Gene migrated from ENSG00000113013 to ENSG00000113013 (gene set migration)
Fetal anomalies v2.0 ELN Gene migrated from ENSG00000049540 to ENSG00000049540 (gene set migration)
Fetal anomalies v2.0 HRAS Gene migrated from ENSG00000174775 to ENSG00000174775 (gene set migration)
Fetal anomalies v2.0 FBRSL1 Gene migrated from ENSG00000112787 to ENSG00000112787 (gene set migration)
Fetal anomalies v2.0 OSTM1 Gene migrated from ENSG00000081087 to ENSG00000081087 (gene set migration)
Fetal anomalies v2.0 HOXA13 Gene migrated from ENSG00000106031 to ENSG00000106031 (gene set migration)
Fetal anomalies v2.0 CITED2 Gene migrated from ENSG00000164442 to ENSG00000164442 (gene set migration)
Fetal anomalies v2.0 LTBP4 Gene migrated from ENSG00000090006 to ENSG00000090006 (gene set migration)
Fetal anomalies v2.0 LRP4 Gene migrated from ENSG00000134569 to ENSG00000134569 (gene set migration)
Fetal anomalies v2.0 LRP2 Gene migrated from ENSG00000081479 to ENSG00000081479 (gene set migration)
Fetal anomalies v2.0 LMX1B Gene migrated from ENSG00000136944 to ENSG00000136944 (gene set migration)
Fetal anomalies v2.0 LMOD3 Gene migrated from ENSG00000163380 to ENSG00000163380 (gene set migration)
Fetal anomalies v2.0 ERCC8 Gene migrated from ENSG00000049167 to ENSG00000049167 (gene set migration)
Fetal anomalies v2.0 LIFR Gene migrated from ENSG00000113594 to ENSG00000113594 (gene set migration)
Fetal anomalies v2.0 HDAC8 Gene migrated from ENSG00000147099 to ENSG00000147099 (gene set migration)
Fetal anomalies v2.0 PDE4D Gene migrated from ENSG00000113448 to ENSG00000113448 (gene set migration)
Fetal anomalies v2.0 HCFC1 Gene migrated from ENSG00000172534 to ENSG00000172534 (gene set migration)
Fetal anomalies v2.0 LBR Gene migrated from ENSG00000143815 to ENSG00000143815 (gene set migration)
Fetal anomalies v2.0 LAMA1 Gene migrated from ENSG00000101680 to ENSG00000101680 (gene set migration)
Fetal anomalies v2.0 PDCD10 Gene migrated from ENSG00000114209 to ENSG00000114209 (gene set migration)
Fetal anomalies v2.0 ERCC3 Gene migrated from ENSG00000163161 to ENSG00000163161 (gene set migration)
Fetal anomalies v2.0 GUSB Gene migrated from ENSG00000169919 to ENSG00000169919 (gene set migration)
Fetal anomalies v2.0 KMT2A Gene migrated from ENSG00000118058 to ENSG00000118058 (gene set migration)
Fetal anomalies v2.0 FKBP14 Gene migrated from ENSG00000106080 to ENSG00000106080 (gene set migration)
Fetal anomalies v2.0 LARGE1 Gene migrated from ENSG00000133424 to ENSG00000133424 (gene set migration)
Fetal anomalies v2.0 KIF7 Gene migrated from ENSG00000166813 to ENSG00000166813 (gene set migration)
Fetal anomalies v2.0 GUCY2C Gene migrated from ENSG00000070019 to ENSG00000070019 (gene set migration)
Fetal anomalies v2.0 LAMA2 Gene migrated from ENSG00000196569 to ENSG00000196569 (gene set migration)
Fetal anomalies v2.0 FOXF1 Gene migrated from ENSG00000103241 to ENSG00000103241 (gene set migration)
Fetal anomalies v2.0 KYNU Gene migrated from ENSG00000115919 to ENSG00000115919 (gene set migration)
Fetal anomalies v2.0 KRAS Gene migrated from ENSG00000133703 to ENSG00000133703 (gene set migration)
Fetal anomalies v2.0 FOXG1 Gene migrated from ENSG00000176165 to ENSG00000176165 (gene set migration)
Fetal anomalies v2.0 REN Gene migrated from ENSG00000143839 to ENSG00000143839 (gene set migration)
Fetal anomalies v2.0 GTF2H5 Gene migrated from ENSG00000272047 to ENSG00000272047 (gene set migration)
Fetal anomalies v2.0 KANSL1 Gene migrated from ENSG00000120071 to ENSG00000120071 (gene set migration)
Fetal anomalies v2.0 SUMF1 Gene migrated from ENSG00000144455 to ENSG00000144455 (gene set migration)
Fetal anomalies v2.0 KLHL41 Gene migrated from ENSG00000239474 to ENSG00000239474 (gene set migration)
Fetal anomalies v2.0 KLHL40 Gene migrated from ENSG00000157119 to ENSG00000157119 (gene set migration)
Fetal anomalies v2.0 IRF6 Gene migrated from ENSG00000117595 to ENSG00000117595 (gene set migration)
Fetal anomalies v2.0 KIFBP Gene symbol changed from KIF1BP to KIFBP during gene set migration (ENSG00000198954 -> ENSG00000198954)
Fetal anomalies v2.0 FREM2 Gene migrated from ENSG00000150893 to ENSG00000150893 (gene set migration)
Fetal anomalies v2.0 INSR Gene migrated from ENSG00000171105 to ENSG00000171105 (gene set migration)
Fetal anomalies v2.0 INTU Gene migrated from ENSG00000164066 to ENSG00000164066 (gene set migration)
Fetal anomalies v2.0 INPPL1 Gene migrated from ENSG00000165458 to ENSG00000165458 (gene set migration)
Fetal anomalies v2.0 GAA Gene migrated from ENSG00000171298 to ENSG00000171298 (gene set migration)
Fetal anomalies v2.0 KIF1A Gene migrated from ENSG00000130294 to ENSG00000130294 (gene set migration)
Fetal anomalies v2.0 IL11RA Gene migrated from ENSG00000137070 to ENSG00000137070 (gene set migration)
Fetal anomalies v2.0 NPR2 Gene migrated from ENSG00000159899 to ENSG00000159899 (gene set migration)
Fetal anomalies v2.0 KIF11 Gene migrated from ENSG00000138160 to ENSG00000138160 (gene set migration)
Fetal anomalies v2.0 GALE Gene migrated from ENSG00000117308 to ENSG00000117308 (gene set migration)
Fetal anomalies v2.0 DYNLT2B Gene symbol changed from TCTEX1D2 to DYNLT2B during gene set migration (ENSG00000213123 -> ENSG00000213123)
Fetal anomalies v2.0 GRIN1 Gene migrated from ENSG00000176884 to ENSG00000176884 (gene set migration)
Fetal anomalies v2.0 GALK1 Gene migrated from ENSG00000108479 to ENSG00000108479 (gene set migration)
Fetal anomalies v2.0 GALNS Gene migrated from ENSG00000141012 to ENSG00000141012 (gene set migration)
Fetal anomalies v2.0 EML1 Gene migrated from ENSG00000066629 to ENSG00000066629 (gene set migration)
Fetal anomalies v2.0 KIAA0586 Gene migrated from ENSG00000100578 to ENSG00000100578 (gene set migration)
Fetal anomalies v2.0 GATA4 Gene migrated from ENSG00000136574 to ENSG00000136574 (gene set migration)
Fetal anomalies v2.0 ETFDH Gene migrated from ENSG00000171503 to ENSG00000171503 (gene set migration)
Fetal anomalies v2.0 IDS Gene migrated from ENSG00000010404 to ENSG00000010404 (gene set migration)
Fetal anomalies v2.0 HSPD1 Gene migrated from ENSG00000144381 to ENSG00000144381 (gene set migration)
Fetal anomalies v2.0 NPC1 Gene migrated from ENSG00000141458 to ENSG00000141458 (gene set migration)
Fetal anomalies v2.0 HSD17B3 Gene migrated from ENSG00000130948 to ENSG00000130948 (gene set migration)
Fetal anomalies v2.0 NOTCH2 Gene migrated from ENSG00000134250 to ENSG00000134250 (gene set migration)
Fetal anomalies v2.0 HPSE2 Gene migrated from ENSG00000172987 to ENSG00000172987 (gene set migration)
Fetal anomalies v2.0 HOXD13 Gene migrated from ENSG00000128714 to ENSG00000128714 (gene set migration)
Fetal anomalies v2.0 NOTCH1 Gene migrated from ENSG00000148400 to ENSG00000148400 (gene set migration)
Fetal anomalies v2.0 HOXA1 Gene migrated from ENSG00000105991 to ENSG00000105991 (gene set migration)
Fetal anomalies v2.0 GPSM2 Gene migrated from ENSG00000121957 to ENSG00000121957 (gene set migration)
Fetal anomalies v2.0 KDM6A Gene migrated from ENSG00000147050 to ENSG00000147050 (gene set migration)
Fetal anomalies v2.0 KMT2C Gene migrated from ENSG00000055609 to ENSG00000055609 (gene set migration)
Fetal anomalies v2.0 GCDH Gene migrated from ENSG00000105607 to ENSG00000105607 (gene set migration)
Fetal anomalies v2.0 EOGT Gene migrated from ENSG00000163378 to ENSG00000163378 (gene set migration)
Fetal anomalies v2.0 ALB Gene migrated from ENSG00000163631 to ENSG00000163631 (gene set migration)
Fetal anomalies v2.0 ADGRG6 Gene migrated from ENSG00000112414 to ENSG00000112414 (gene set migration)
Fetal anomalies v2.0 EFTUD2 Gene migrated from ENSG00000108883 to ENSG00000108883 (gene set migration)
Fetal anomalies v2.0 PIGH Gene migrated from ENSG00000100564 to ENSG00000100564 (gene set migration)
Fetal anomalies v2.0 ADAMTS17 Gene migrated from ENSG00000140470 to ENSG00000140470 (gene set migration)
Fetal anomalies v2.0 ACTC1 Gene migrated from ENSG00000159251 to ENSG00000159251 (gene set migration)
Fetal anomalies v2.0 PCDH12 Gene migrated from ENSG00000113555 to ENSG00000113555 (gene set migration)
Fetal anomalies v2.0 PARP6 Gene migrated from ENSG00000137817 to ENSG00000137817 (gene set migration)
Fetal anomalies v2.0 NIPBL Gene migrated from ENSG00000164190 to ENSG00000164190 (gene set migration)
Fetal anomalies v2.0 CDK5RAP2 Gene migrated from ENSG00000136861 to ENSG00000136861 (gene set migration)
Fetal anomalies v2.0 NSD1 Gene migrated from ENSG00000165671 to ENSG00000165671 (gene set migration)
Fetal anomalies v2.0 PEX11B Gene migrated from ENSG00000131779 to ENSG00000131779 (gene set migration)
Fetal anomalies v2.0 PEX12 Gene migrated from ENSG00000108733 to ENSG00000108733 (gene set migration)
Fetal anomalies v2.0 PEX13 Gene migrated from ENSG00000162928 to ENSG00000162928 (gene set migration)
Fetal anomalies v2.0 FYCO1 Gene migrated from ENSG00000163820 to ENSG00000163820 (gene set migration)
Fetal anomalies v2.0 NR2F2 Gene migrated from ENSG00000185551 to ENSG00000185551 (gene set migration)
Fetal anomalies v2.0 PGAP2 Gene migrated from ENSG00000148985 to ENSG00000148985 (gene set migration)
Fetal anomalies v2.0 PGAP3 Gene migrated from ENSG00000161395 to ENSG00000161395 (gene set migration)
Fetal anomalies v2.0 PIGA Gene migrated from ENSG00000165195 to ENSG00000165195 (gene set migration)
Fetal anomalies v2.0 PIGL Gene migrated from ENSG00000108474 to ENSG00000108474 (gene set migration)
Fetal anomalies v2.0 POLR1C Gene migrated from ENSG00000171453 to ENSG00000171453 (gene set migration)
Fetal anomalies v2.0 POMT1 Gene migrated from ENSG00000130714 to ENSG00000130714 (gene set migration)
Fetal anomalies v2.0 PPP2R1A Gene migrated from ENSG00000105568 to ENSG00000105568 (gene set migration)
Fetal anomalies v2.0 PLEC Gene migrated from ENSG00000178209 to ENSG00000178209 (gene set migration)
Fetal anomalies v2.0 ZBTB24 Gene migrated from ENSG00000112365 to ENSG00000112365 (gene set migration)
Fetal anomalies v2.0 RHEB Gene migrated from ENSG00000106615 to ENSG00000106615 (gene set migration)
Fetal anomalies v2.0 BSND Gene migrated from ENSG00000162399 to ENSG00000162399 (gene set migration)
Fetal anomalies v2.0 H1-4 Gene symbol changed from HIST1H1E to H1-4 during gene set migration (ENSG00000168298 -> ENSG00000168298)
Fetal anomalies v2.0 UQCC2 Gene migrated from ENSG00000137288 to ENSG00000137288 (gene set migration)
Fetal anomalies v2.0 DPAGT1 Gene migrated from ENSG00000172269 to ENSG00000172269 (gene set migration)
Fetal anomalies v2.0 PLOD3 Gene migrated from ENSG00000106397 to ENSG00000106397 (gene set migration)
Fetal anomalies v2.0 FANCL Gene migrated from ENSG00000115392 to ENSG00000115392 (gene set migration)
Fetal anomalies v2.0 CCND2 Gene migrated from ENSG00000118971 to ENSG00000118971 (gene set migration)
Fetal anomalies v2.0 CLCN7 Gene migrated from ENSG00000103249 to ENSG00000103249 (gene set migration)
Fetal anomalies v2.0 DARS1 Gene symbol changed from DARS to DARS1 during gene set migration (ENSG00000115866 -> ENSG00000115866)
Fetal anomalies v2.0 PTS Gene migrated from ENSG00000150787 to ENSG00000150787 (gene set migration)
Fetal anomalies v2.0 PTDSS1 Gene migrated from ENSG00000156471 to ENSG00000156471 (gene set migration)
Fetal anomalies v2.0 CYP21A2 Gene migrated from ENSG00000231852 to ENSG00000231852 (gene set migration)
Fetal anomalies v2.0 CYP1B1 Gene migrated from ENSG00000138061 to ENSG00000138061 (gene set migration)
Fetal anomalies v2.0 CYP17A1 Gene migrated from ENSG00000148795 to ENSG00000148795 (gene set migration)
Fetal anomalies v2.0 DOK7 Gene migrated from ENSG00000175920 to ENSG00000175920 (gene set migration)
Fetal anomalies v2.0 SHOC2 Gene migrated from ENSG00000108061 to ENSG00000108061 (gene set migration)
Fetal anomalies v2.0 CYP11B1 Gene migrated from ENSG00000160882 to ENSG00000160882 (gene set migration)
Fetal anomalies v2.0 CYP11A1 Gene migrated from ENSG00000140459 to ENSG00000140459 (gene set migration)
Fetal anomalies v2.0 CWC27 Gene migrated from ENSG00000153015 to ENSG00000153015 (gene set migration)
Fetal anomalies v2.0 DNAI1 Gene migrated from ENSG00000122735 to ENSG00000122735 (gene set migration)
Fetal anomalies v2.0 CDK8 Gene migrated from ENSG00000132964 to ENSG00000132964 (gene set migration)
Fetal anomalies v2.0 CSF1R Gene migrated from ENSG00000182578 to ENSG00000182578 (gene set migration)
Fetal anomalies v2.0 POLD1 Gene migrated from ENSG00000062822 to ENSG00000062822 (gene set migration)
Fetal anomalies v2.0 POLR1B Gene migrated from ENSG00000125630 to ENSG00000125630 (gene set migration)
Fetal anomalies v2.0 DNAH9 Gene migrated from ENSG00000007174 to ENSG00000007174 (gene set migration)
Fetal anomalies v2.0 DNAH5 Gene migrated from ENSG00000039139 to ENSG00000039139 (gene set migration)
Fetal anomalies v2.0 ERCC2 Gene migrated from ENSG00000104884 to ENSG00000104884 (gene set migration)
Fetal anomalies v2.0 STT3A Gene migrated from ENSG00000134910 to ENSG00000134910 (gene set migration)
Fetal anomalies v2.0 KAT5 Gene migrated from ENSG00000172977 to ENSG00000172977 (gene set migration)
Fetal anomalies v2.0 INTS1 Gene migrated from ENSG00000164880 to ENSG00000164880 (gene set migration)
Fetal anomalies v2.0 TSHR Gene migrated from ENSG00000165409 to ENSG00000165409 (gene set migration)
Fetal anomalies v2.0 COL25A1 Gene migrated from ENSG00000188517 to ENSG00000188517 (gene set migration)
Fetal anomalies v2.0 SF3B2 Gene migrated from ENSG00000087365 to ENSG00000087365 (gene set migration)
Fetal anomalies v2.0 ELAC2 Gene migrated from ENSG00000006744 to ENSG00000006744 (gene set migration)
Fetal anomalies v2.0 ACY1 Gene migrated from ENSG00000243989 to ENSG00000243989 (gene set migration)
Fetal anomalies v2.0 HOXA2 Gene migrated from ENSG00000105996 to ENSG00000105996 (gene set migration)
Fetal anomalies v2.0 TPO Gene migrated from ENSG00000115705 to ENSG00000115705 (gene set migration)
Fetal anomalies v2.0 HBA2 Gene migrated from ENSG00000188536 to ENSG00000188536 (gene set migration)
Fetal anomalies v2.0 HAND1 Gene migrated from ENSG00000113196 to ENSG00000113196 (gene set migration)
Fetal anomalies v2.0 EIF3F Gene migrated from ENSG00000175390 to ENSG00000175390 (gene set migration)
Fetal anomalies v2.0 NFIX Gene migrated from ENSG00000008441 to ENSG00000008441 (gene set migration)
Fetal anomalies v2.0 COL9A3 Gene migrated from ENSG00000092758 to ENSG00000092758 (gene set migration)
Fetal anomalies v2.0 PLOD2 Gene migrated from ENSG00000152952 to ENSG00000152952 (gene set migration)
Fetal anomalies v2.0 SMARCA2 Gene migrated from ENSG00000080503 to ENSG00000080503 (gene set migration)
Fetal anomalies v2.0 LMNB1 Gene migrated from ENSG00000113368 to ENSG00000113368 (gene set migration)
Fetal anomalies v2.0 NEB Gene migrated from ENSG00000183091 to ENSG00000183091 (gene set migration)
Fetal anomalies v2.0 EXTL3 Gene migrated from ENSG00000012232 to ENSG00000012232 (gene set migration)
Fetal anomalies v2.0 CTNNB1 Gene migrated from ENSG00000168036 to ENSG00000168036 (gene set migration)
Fetal anomalies v2.0 PKD2 Gene migrated from ENSG00000118762 to ENSG00000118762 (gene set migration)
Fetal anomalies v2.0 CTCF Gene migrated from ENSG00000102974 to ENSG00000102974 (gene set migration)
Fetal anomalies v2.0 NDUFAF5 Gene migrated from ENSG00000101247 to ENSG00000101247 (gene set migration)
Fetal anomalies v2.0 GFM1 Gene migrated from ENSG00000168827 to ENSG00000168827 (gene set migration)
Fetal anomalies v2.0 CTC1 Gene migrated from ENSG00000178971 to ENSG00000178971 (gene set migration)
Fetal anomalies v2.0 WDHD1 Gene migrated from ENSG00000198554 to ENSG00000198554 (gene set migration)
Fetal anomalies v2.0 CSNK2A1 Gene migrated from ENSG00000101266 to ENSG00000101266 (gene set migration)
Fetal anomalies v2.0 CRYGD Gene migrated from ENSG00000118231 to ENSG00000118231 (gene set migration)
Fetal anomalies v2.0 PRRX1 Gene migrated from ENSG00000116132 to ENSG00000116132 (gene set migration)
Fetal anomalies v2.0 CRYGC Gene migrated from ENSG00000163254 to ENSG00000163254 (gene set migration)
Fetal anomalies v2.0 CRYBB3 Gene migrated from ENSG00000100053 to ENSG00000100053 (gene set migration)
Fetal anomalies v2.0 NBN Gene migrated from ENSG00000104320 to ENSG00000104320 (gene set migration)
Fetal anomalies v2.0 HBA1 Gene migrated from ENSG00000206172 to ENSG00000206172 (gene set migration)
Fetal anomalies v2.0 CRYBB1 Gene migrated from ENSG00000100122 to ENSG00000100122 (gene set migration)
Fetal anomalies v2.0 NECTIN4 Gene migrated from ENSG00000143217 to ENSG00000143217 (gene set migration)
Fetal anomalies v2.0 GJA3 Gene migrated from ENSG00000121743 to ENSG00000121743 (gene set migration)
Fetal anomalies v2.0 MYT1 Gene migrated from ENSG00000196132 to ENSG00000196132 (gene set migration)
Fetal anomalies v2.0 PDIA6 Gene migrated from ENSG00000143870 to ENSG00000143870 (gene set migration)
Fetal anomalies v2.0 SLC5A5 Gene migrated from ENSG00000105641 to ENSG00000105641 (gene set migration)
Fetal anomalies v2.0 PACS2 Gene migrated from ENSG00000179364 to ENSG00000179364 (gene set migration)
Fetal anomalies v2.0 APC2 Gene migrated from ENSG00000115266 to ENSG00000115266 (gene set migration)
Fetal anomalies v2.0 CRYBA1 Gene migrated from ENSG00000108255 to ENSG00000108255 (gene set migration)
Fetal anomalies v2.0 PPP2CA Gene migrated from ENSG00000113575 to ENSG00000113575 (gene set migration)
Fetal anomalies v2.0 CRTAP Gene migrated from ENSG00000170275 to ENSG00000170275 (gene set migration)
Fetal anomalies v2.0 EIF2AK3 Gene migrated from ENSG00000172071 to ENSG00000172071 (gene set migration)
Fetal anomalies v2.0 EDNRA Gene migrated from ENSG00000151617 to ENSG00000151617 (gene set migration)
Fetal anomalies v2.0 PEX7 Gene migrated from ENSG00000112357 to ENSG00000112357 (gene set migration)
Fetal anomalies v2.0 PRUNE1 Gene migrated from ENSG00000143363 to ENSG00000143363 (gene set migration)
Fetal anomalies v2.0 SPINT2 Gene migrated from ENSG00000167642 to ENSG00000167642 (gene set migration)
Fetal anomalies v2.0 DVL3 Gene migrated from ENSG00000161202 to ENSG00000161202 (gene set migration)
Fetal anomalies v2.0 MCIDAS Gene migrated from ENSG00000234602 to ENSG00000234602 (gene set migration)
Fetal anomalies v2.0 EN1 Gene migrated from ENSG00000163064 to ENSG00000163064 (gene set migration)
Fetal anomalies v2.0 SCN5A Gene migrated from ENSG00000183873 to ENSG00000183873 (gene set migration)
Fetal anomalies v2.0 GDF6 Gene migrated from ENSG00000156466 to ENSG00000156466 (gene set migration)
Fetal anomalies v2.0 GATA1 Gene migrated from ENSG00000102145 to ENSG00000102145 (gene set migration)
Fetal anomalies v2.0 RPL15 Gene migrated from ENSG00000174748 to ENSG00000174748 (gene set migration)
Fetal anomalies v2.0 GJC2 Gene migrated from ENSG00000198835 to ENSG00000198835 (gene set migration)
Fetal anomalies v2.0 STIM1 Gene migrated from ENSG00000167323 to ENSG00000167323 (gene set migration)
Fetal anomalies v2.0 SCNN1B Gene migrated from ENSG00000168447 to ENSG00000168447 (gene set migration)
Fetal anomalies v2.0 SCNN1A Gene migrated from ENSG00000111319 to ENSG00000111319 (gene set migration)
Fetal anomalies v2.0 EPHB4 Gene migrated from ENSG00000196411 to ENSG00000196411 (gene set migration)
Fetal anomalies v2.0 RNASEH2C Gene migrated from ENSG00000172922 to ENSG00000172922 (gene set migration)
Fetal anomalies v2.0 PUF60 Gene migrated from ENSG00000179950 to ENSG00000179950 (gene set migration)
Fetal anomalies v2.0 MBTPS1 Gene migrated from ENSG00000140943 to ENSG00000140943 (gene set migration)
Fetal anomalies v2.0 PDE6D Gene migrated from ENSG00000156973 to ENSG00000156973 (gene set migration)
Fetal anomalies v2.0 KIAA0825 Gene migrated from ENSG00000185261 to ENSG00000185261 (gene set migration)
Fetal anomalies v2.0 GLB1 Gene migrated from ENSG00000170266 to ENSG00000170266 (gene set migration)
Fetal anomalies v2.0 DVL1 Gene migrated from ENSG00000107404 to ENSG00000107404 (gene set migration)
Fetal anomalies v2.0 KIF22 Gene migrated from ENSG00000079616 to ENSG00000079616 (gene set migration)
Fetal anomalies v2.0 ZNHIT3 Gene migrated from ENSG00000273611 to ENSG00000273611 (gene set migration)
Fetal anomalies v2.0 AKT3 Gene migrated from ENSG00000117020 to ENSG00000117020 (gene set migration)
Fetal anomalies v2.0 COL27A1 Gene migrated from ENSG00000196739 to ENSG00000196739 (gene set migration)
Fetal anomalies v2.0 BLTP1 Gene symbol changed from KIAA1109 to BLTP1 during gene set migration (ENSG00000138688 -> ENSG00000138688)
Fetal anomalies v2.0 GLI2 Gene migrated from ENSG00000074047 to ENSG00000074047 (gene set migration)
Fetal anomalies v2.0 RNASEH2B Gene migrated from ENSG00000136104 to ENSG00000136104 (gene set migration)
Fetal anomalies v2.0 KCNJ2 Gene migrated from ENSG00000123700 to ENSG00000123700 (gene set migration)
Fetal anomalies v2.0 KAT6B Gene migrated from ENSG00000156650 to ENSG00000156650 (gene set migration)
Fetal anomalies v2.0 RNASEH2A Gene migrated from ENSG00000104889 to ENSG00000104889 (gene set migration)
Fetal anomalies v2.0 KAT6A Gene migrated from ENSG00000083168 to ENSG00000083168 (gene set migration)
Fetal anomalies v2.0 EP300 Gene migrated from ENSG00000100393 to ENSG00000100393 (gene set migration)
Fetal anomalies v2.0 MEGF10 Gene migrated from ENSG00000145794 to ENSG00000145794 (gene set migration)
Fetal anomalies v2.0 MBTPS2 Gene migrated from ENSG00000012174 to ENSG00000012174 (gene set migration)
Fetal anomalies v2.0 NANS Gene migrated from ENSG00000095380 to ENSG00000095380 (gene set migration)
Fetal anomalies v2.0 RNF113A Gene migrated from ENSG00000125352 to ENSG00000125352 (gene set migration)
Fetal anomalies v2.0 AHDC1 Gene migrated from ENSG00000126705 to ENSG00000126705 (gene set migration)
Fetal anomalies v2.0 NPRL3 Gene migrated from ENSG00000103148 to ENSG00000103148 (gene set migration)
Fetal anomalies v2.0 NPRL2 Gene migrated from ENSG00000114388 to ENSG00000114388 (gene set migration)
Fetal anomalies v2.0 GNAI3 Gene migrated from ENSG00000065135 to ENSG00000065135 (gene set migration)
Fetal anomalies v2.0 GLUL Gene migrated from ENSG00000135821 to ENSG00000135821 (gene set migration)
Fetal anomalies v2.0 CRLF1 Gene migrated from ENSG00000006016 to ENSG00000006016 (gene set migration)
Fetal anomalies v2.0 CREBBP Gene migrated from ENSG00000005339 to ENSG00000005339 (gene set migration)
Fetal anomalies v2.0 RAD50 Gene migrated from ENSG00000113522 to ENSG00000113522 (gene set migration)
Fetal anomalies v2.0 CRB2 Gene migrated from ENSG00000148204 to ENSG00000148204 (gene set migration)
Fetal anomalies v2.0 GNPAT Gene migrated from ENSG00000116906 to ENSG00000116906 (gene set migration)
Fetal anomalies v2.0 CPT2 Gene migrated from ENSG00000157184 to ENSG00000157184 (gene set migration)
Fetal anomalies v2.0 DNA2 Gene migrated from ENSG00000138346 to ENSG00000138346 (gene set migration)
Fetal anomalies v2.0 BRD4 Gene migrated from ENSG00000141867 to ENSG00000141867 (gene set migration)
Fetal anomalies v2.0 COX7B Gene migrated from ENSG00000131174 to ENSG00000131174 (gene set migration)
Fetal anomalies v2.0 COQ9 Gene migrated from ENSG00000088682 to ENSG00000088682 (gene set migration)
Fetal anomalies v2.0 D2HGDH Gene migrated from ENSG00000180902 to ENSG00000180902 (gene set migration)
Fetal anomalies v2.0 COQ4 Gene migrated from ENSG00000167113 to ENSG00000167113 (gene set migration)
Fetal anomalies v2.0 ODAD4 Gene symbol changed from TTC25 to ODAD4 during gene set migration (ENSG00000204815 -> ENSG00000204815)
Fetal anomalies v2.0 MNS1 Gene migrated from ENSG00000138587 to ENSG00000138587 (gene set migration)
Fetal anomalies v2.0 ZFPM2 Gene migrated from ENSG00000169946 to ENSG00000169946 (gene set migration)
Fetal anomalies v2.0 CFAP52 Gene migrated from ENSG00000166596 to ENSG00000166596 (gene set migration)
Fetal anomalies v2.0 CFAP45 Gene migrated from ENSG00000213085 to ENSG00000213085 (gene set migration)
Fetal anomalies v2.0 WNT7B Gene migrated from ENSG00000188064 to ENSG00000188064 (gene set migration)
Fetal anomalies v2.0 COLEC11 Gene migrated from ENSG00000118004 to ENSG00000118004 (gene set migration)
Fetal anomalies v2.0 COL9A1 Gene migrated from ENSG00000112280 to ENSG00000112280 (gene set migration)
Fetal anomalies v2.0 EDN3 Gene migrated from ENSG00000124205 to ENSG00000124205 (gene set migration)
Fetal anomalies v2.0 TRIM71 Gene migrated from ENSG00000206557 to ENSG00000206557 (gene set migration)
Fetal anomalies v2.0 COL6A3 Gene migrated from ENSG00000163359 to ENSG00000163359 (gene set migration)
Fetal anomalies v2.0 COL6A2 Gene migrated from ENSG00000142173 to ENSG00000142173 (gene set migration)
Fetal anomalies v2.0 COL6A1 Gene migrated from ENSG00000142156 to ENSG00000142156 (gene set migration)
Fetal anomalies v2.0 MYBBP1A Gene migrated from ENSG00000132382 to ENSG00000132382 (gene set migration)
Fetal anomalies v2.0 TNFRSF11A Gene migrated from ENSG00000141655 to ENSG00000141655 (gene set migration)
Fetal anomalies v2.0 COL4A2 Gene migrated from ENSG00000134871 to ENSG00000134871 (gene set migration)
Fetal anomalies v2.0 RNF125 Gene migrated from ENSG00000101695 to ENSG00000101695 (gene set migration)
Fetal anomalies v2.0 COL4A1 Gene migrated from ENSG00000187498 to ENSG00000187498 (gene set migration)
Fetal anomalies v2.0 COL3A1 Gene migrated from ENSG00000168542 to ENSG00000168542 (gene set migration)
Fetal anomalies v2.0 ALG14 Gene migrated from ENSG00000172339 to ENSG00000172339 (gene set migration)
Fetal anomalies v2.0 MPDZ Gene migrated from ENSG00000107186 to ENSG00000107186 (gene set migration)
Fetal anomalies v2.0 YRDC Gene migrated from ENSG00000196449 to ENSG00000196449 (gene set migration)
Fetal anomalies v2.0 NFIB Gene migrated from ENSG00000147862 to ENSG00000147862 (gene set migration)
Fetal anomalies v2.0 COL2A1 Gene migrated from ENSG00000139219 to ENSG00000139219 (gene set migration)
Fetal anomalies v2.0 KIF4A Gene migrated from ENSG00000090889 to ENSG00000090889 (gene set migration)
Fetal anomalies v2.0 COL1A2 Gene migrated from ENSG00000164692 to ENSG00000164692 (gene set migration)
Fetal anomalies v2.0 RERE Gene migrated from ENSG00000142599 to ENSG00000142599 (gene set migration)
Fetal anomalies v2.0 YIF1B Gene migrated from ENSG00000167645 to ENSG00000167645 (gene set migration)
Fetal anomalies v2.0 RIT1 Gene migrated from ENSG00000143622 to ENSG00000143622 (gene set migration)
Fetal anomalies v2.0 YIPF5 Gene migrated from ENSG00000145817 to ENSG00000145817 (gene set migration)
Fetal anomalies v2.0 RSPO2 Gene migrated from ENSG00000147655 to ENSG00000147655 (gene set migration)
Fetal anomalies v2.0 WDR4 Gene migrated from ENSG00000160193 to ENSG00000160193 (gene set migration)
Fetal anomalies v2.0 COL1A1 Gene migrated from ENSG00000108821 to ENSG00000108821 (gene set migration)
Fetal anomalies v2.0 WDR37 Gene migrated from ENSG00000047056 to ENSG00000047056 (gene set migration)
Fetal anomalies v2.0 COL18A1 Gene migrated from ENSG00000182871 to ENSG00000182871 (gene set migration)
Fetal anomalies v2.0 COL11A2 Gene migrated from ENSG00000204248 to ENSG00000204248 (gene set migration)
Fetal anomalies v2.0 PQBP1 Gene migrated from ENSG00000102103 to ENSG00000102103 (gene set migration)
Fetal anomalies v2.0 COL11A1 Gene migrated from ENSG00000060718 to ENSG00000060718 (gene set migration)
Fetal anomalies v2.0 SCNN1G Gene migrated from ENSG00000166828 to ENSG00000166828 (gene set migration)
Fetal anomalies v2.0 VPS4A Gene migrated from ENSG00000132612 to ENSG00000132612 (gene set migration)
Fetal anomalies v2.0 FOXJ1 Gene migrated from ENSG00000129654 to ENSG00000129654 (gene set migration)
Fetal anomalies v2.0 COG8 Gene migrated from ENSG00000213380 to ENSG00000213380 (gene set migration)
Fetal anomalies v2.0 TUBGCP2 Gene migrated from ENSG00000130640 to ENSG00000130640 (gene set migration)
Fetal anomalies v2.0 COG7 Gene migrated from ENSG00000168434 to ENSG00000168434 (gene set migration)
Fetal anomalies v2.0 EEF2 Gene migrated from ENSG00000167658 to ENSG00000167658 (gene set migration)
Fetal anomalies v2.0 GTPBP2 Gene migrated from ENSG00000172432 to ENSG00000172432 (gene set migration)
Fetal anomalies v2.0 ATP1A3 Gene migrated from ENSG00000105409 to ENSG00000105409 (gene set migration)
Fetal anomalies v2.0 COG4 Gene migrated from ENSG00000103051 to ENSG00000103051 (gene set migration)
Fetal anomalies v2.0 COLGALT1 Gene migrated from ENSG00000130309 to ENSG00000130309 (gene set migration)
Fetal anomalies v2.0 COG1 Gene migrated from ENSG00000166685 to ENSG00000166685 (gene set migration)
Fetal anomalies v2.0 DLL1 Gene migrated from ENSG00000198719 to ENSG00000198719 (gene set migration)
Fetal anomalies v2.0 COASY Gene migrated from ENSG00000068120 to ENSG00000068120 (gene set migration)
Fetal anomalies v2.0 BCAS3 Gene migrated from ENSG00000141376 to ENSG00000141376 (gene set migration)
Fetal anomalies v2.0 C2orf69 Gene migrated from ENSG00000178074 to ENSG00000178074 (gene set migration)
Fetal anomalies v2.0 PRSS56 Gene migrated from ENSG00000237412 to ENSG00000237412 (gene set migration)
Fetal anomalies v2.0 ALX3 Gene migrated from ENSG00000156150 to ENSG00000156150 (gene set migration)
Fetal anomalies v2.0 MAN2C1 Gene migrated from ENSG00000140400 to ENSG00000140400 (gene set migration)
Fetal anomalies v2.0 MUSK Gene migrated from ENSG00000030304 to ENSG00000030304 (gene set migration)
Fetal anomalies v2.0 MTOR Gene migrated from ENSG00000198793 to ENSG00000198793 (gene set migration)
Fetal anomalies v2.0 MEIS2 Gene migrated from ENSG00000134138 to ENSG00000134138 (gene set migration)
Fetal anomalies v2.0 ABHD16A Gene migrated from ENSG00000204427 to ENSG00000204427 (gene set migration)
Fetal anomalies v2.0 RAB3GAP1 Gene migrated from ENSG00000115839 to ENSG00000115839 (gene set migration)
Fetal anomalies v2.0 GRM7 Gene migrated from ENSG00000196277 to ENSG00000196277 (gene set migration)
Fetal anomalies v2.0 UROS Gene migrated from ENSG00000188690 to ENSG00000188690 (gene set migration)
Fetal anomalies v2.0 MVK Gene migrated from ENSG00000110921 to ENSG00000110921 (gene set migration)
Fetal anomalies v2.0 DSP Gene migrated from ENSG00000096696 to ENSG00000096696 (gene set migration)
Fetal anomalies v2.0 MYH6 Gene migrated from ENSG00000197616 to ENSG00000197616 (gene set migration)
Fetal anomalies v2.0 SPTA1 Gene migrated from ENSG00000163554 to ENSG00000163554 (gene set migration)
Fetal anomalies v2.0 PIDD1 Gene migrated from ENSG00000177595 to ENSG00000177595 (gene set migration)
Fetal anomalies v2.0 GNPNAT1 Gene migrated from ENSG00000100522 to ENSG00000100522 (gene set migration)
Fetal anomalies v2.0 MYH3 Gene migrated from ENSG00000109063 to ENSG00000109063 (gene set migration)
Fetal anomalies v2.0 RMRP Gene migrated from ENSG00000269900 to ENSG00000277027 (gene set migration)
Fetal anomalies v2.0 CLCNKB Gene migrated from ENSG00000184908 to ENSG00000184908 (gene set migration)
Fetal anomalies v2.0 TGFBR1 Gene migrated from ENSG00000106799 to ENSG00000106799 (gene set migration)
Fetal anomalies v2.0 RMND1 Gene migrated from ENSG00000155906 to ENSG00000155906 (gene set migration)
Fetal anomalies v2.0 RLIM Gene migrated from ENSG00000131263 to ENSG00000131263 (gene set migration)
Fetal anomalies v2.0 ATP6V1B2 Gene migrated from ENSG00000147416 to ENSG00000147416 (gene set migration)
Fetal anomalies v2.0 CNTNAP2 Gene migrated from ENSG00000174469 to ENSG00000174469 (gene set migration)
Fetal anomalies v2.0 TMEM17 Gene migrated from ENSG00000186889 to ENSG00000186889 (gene set migration)
Fetal anomalies v2.0 PGAP1 Gene migrated from ENSG00000197121 to ENSG00000197121 (gene set migration)
Fetal anomalies v2.0 PET100 Gene migrated from ENSG00000229833 to ENSG00000229833 (gene set migration)
Fetal anomalies v2.0 DNAH11 Gene migrated from ENSG00000105877 to ENSG00000105877 (gene set migration)
Fetal anomalies v2.0 DNAAF4 Gene migrated from ENSG00000256061 to ENSG00000256061 (gene set migration)
Fetal anomalies v2.0 DNAAF3 Gene migrated from ENSG00000167646 to ENSG00000167646 (gene set migration)
Fetal anomalies v2.0 CNTNAP1 Gene migrated from ENSG00000108797 to ENSG00000108797 (gene set migration)
Fetal anomalies v2.0 DNAAF1 Gene migrated from ENSG00000154099 to ENSG00000154099 (gene set migration)
Fetal anomalies v2.0 CNOT3 Gene migrated from ENSG00000088038 to ENSG00000088038 (gene set migration)
Fetal anomalies v2.0 TBCK Gene migrated from ENSG00000145348 to ENSG00000145348 (gene set migration)
Fetal anomalies v2.0 DMPK Gene migrated from ENSG00000104936 to ENSG00000104936 (gene set migration)
Fetal anomalies v2.0 CLPB Gene migrated from ENSG00000162129 to ENSG00000162129 (gene set migration)
Fetal anomalies v2.0 RPGRIP1L Gene migrated from ENSG00000103494 to ENSG00000103494 (gene set migration)
Fetal anomalies v2.0 PPFIBP1 Gene migrated from ENSG00000110841 to ENSG00000110841 (gene set migration)
Fetal anomalies v2.0 CKAP2L Gene migrated from ENSG00000169607 to ENSG00000169607 (gene set migration)
Fetal anomalies v2.0 DNMT3B Gene migrated from ENSG00000088305 to ENSG00000088305 (gene set migration)
Fetal anomalies v2.0 DLL3 Gene migrated from ENSG00000090932 to ENSG00000090932 (gene set migration)
Fetal anomalies v2.0 NPNT Gene migrated from ENSG00000168743 to ENSG00000168743 (gene set migration)
Fetal anomalies v2.0 MSL3 Gene migrated from ENSG00000005302 to ENSG00000005302 (gene set migration)
Fetal anomalies v2.0 MPLKIP Gene migrated from ENSG00000168303 to ENSG00000168303 (gene set migration)
Fetal anomalies v2.0 RPS26 Gene migrated from ENSG00000197728 to ENSG00000197728 (gene set migration)
Fetal anomalies v2.0 MPDU1 Gene migrated from ENSG00000129255 to ENSG00000129255 (gene set migration)
Fetal anomalies v2.0 NEDD4L Gene migrated from ENSG00000049759 to ENSG00000049759 (gene set migration)
Fetal anomalies v2.0 DHCR7 Gene migrated from ENSG00000172893 to ENSG00000172893 (gene set migration)
Fetal anomalies v2.0 MNX1 Gene migrated from ENSG00000130675 to ENSG00000130675 (gene set migration)
Fetal anomalies v2.0 MMP21 Gene migrated from ENSG00000154485 to ENSG00000154485 (gene set migration)
Fetal anomalies v2.0 SPECC1L Gene migrated from ENSG00000100014 to ENSG00000100014 (gene set migration)
Fetal anomalies v2.0 SNAP29 Gene migrated from ENSG00000099940 to ENSG00000099940 (gene set migration)
Fetal anomalies v2.0 CEP85L Gene migrated from ENSG00000111860 to ENSG00000111860 (gene set migration)
Fetal anomalies v2.0 NAA15 Gene migrated from ENSG00000164134 to ENSG00000164134 (gene set migration)
Fetal anomalies v2.0 HS2ST1 Gene migrated from ENSG00000153936 to ENSG00000153936 (gene set migration)
Fetal anomalies v2.0 PPP2R3C Gene migrated from ENSG00000092020 to ENSG00000092020 (gene set migration)
Fetal anomalies v2.0 FLNC Gene migrated from ENSG00000128591 to ENSG00000128591 (gene set migration)
Fetal anomalies v2.0 MKKS Gene migrated from ENSG00000125863 to ENSG00000125863 (gene set migration)
Fetal anomalies v2.0 HERC1 Gene migrated from ENSG00000103657 to ENSG00000103657 (gene set migration)
Fetal anomalies v2.0 CHSY1 Gene migrated from ENSG00000131873 to ENSG00000131873 (gene set migration)
Fetal anomalies v2.0 IARS1 Gene symbol changed from IARS to IARS1 during gene set migration (ENSG00000196305 -> ENSG00000196305)
Fetal anomalies v2.0 NKX3-2 Gene migrated from ENSG00000109705 to ENSG00000109705 (gene set migration)
Fetal anomalies v2.0 DHCR24 Gene migrated from ENSG00000116133 to ENSG00000116133 (gene set migration)
Fetal anomalies v2.0 ROBO2 Gene migrated from ENSG00000185008 to ENSG00000185008 (gene set migration)
Fetal anomalies v2.0 MKS1 Gene migrated from ENSG00000011143 to ENSG00000011143 (gene set migration)
Fetal anomalies v2.0 COQ7 Gene migrated from ENSG00000167186 to ENSG00000167186 (gene set migration)
Fetal anomalies v2.0 CHST3 Gene migrated from ENSG00000122863 to ENSG00000122863 (gene set migration)
Fetal anomalies v2.0 MTM1 Gene migrated from ENSG00000171100 to ENSG00000171100 (gene set migration)
Fetal anomalies v2.0 TLK2 Gene migrated from ENSG00000146872 to ENSG00000146872 (gene set migration)
Fetal anomalies v2.0 DDX11 Gene migrated from ENSG00000013573 to ENSG00000013573 (gene set migration)
Fetal anomalies v2.0 SENP7 Gene migrated from ENSG00000138468 to ENSG00000138468 (gene set migration)
Fetal anomalies v2.0 STAT3 Gene migrated from ENSG00000168610 to ENSG00000168610 (gene set migration)
Fetal anomalies v2.0 ACP5 Gene migrated from ENSG00000102575 to ENSG00000102575 (gene set migration)
Fetal anomalies v2.0 CDX2 Gene migrated from ENSG00000165556 to ENSG00000165556 (gene set migration)
Fetal anomalies v2.0 ACAN Gene migrated from ENSG00000157766 to ENSG00000157766 (gene set migration)
Fetal anomalies v2.0 RNU12 Gene migrated from ENSG00000276027 to ENSG00000276027 (gene set migration)
Fetal anomalies v2.0 RTTN Gene migrated from ENSG00000176225 to ENSG00000176225 (gene set migration)
Fetal anomalies v2.0 EXOC7 Gene migrated from ENSG00000182473 to ENSG00000182473 (gene set migration)
Fetal anomalies v2.0 PHEX Gene migrated from ENSG00000102174 to ENSG00000102174 (gene set migration)
Fetal anomalies v2.0 CHST14 Gene migrated from ENSG00000169105 to ENSG00000169105 (gene set migration)
Fetal anomalies v2.0 LTBP1 Gene migrated from ENSG00000049323 to ENSG00000049323 (gene set migration)
Fetal anomalies v2.0 RYR1 Gene migrated from ENSG00000196218 to ENSG00000196218 (gene set migration)
Fetal anomalies v2.0 SDCCAG8 Gene migrated from ENSG00000054282 to ENSG00000054282 (gene set migration)
Fetal anomalies v2.0 CHRNG Gene migrated from ENSG00000196811 to ENSG00000196811 (gene set migration)
Fetal anomalies v2.0 DYNC1I2 Gene migrated from ENSG00000077380 to ENSG00000077380 (gene set migration)
Fetal anomalies v2.0 KIF5B Gene migrated from ENSG00000170759 to ENSG00000170759 (gene set migration)
Fetal anomalies v2.0 FIBP Gene migrated from ENSG00000172500 to ENSG00000172500 (gene set migration)
Fetal anomalies v2.0 EVC2 Gene migrated from ENSG00000173040 to ENSG00000173040 (gene set migration)
Fetal anomalies v2.0 STAG2 Gene migrated from ENSG00000101972 to ENSG00000101972 (gene set migration)
Fetal anomalies v2.0 PAN2 Gene migrated from ENSG00000135473 to ENSG00000135473 (gene set migration)
Fetal anomalies v2.0 CIBAR1 Gene symbol changed from FAM92A to CIBAR1 during gene set migration (ENSG00000188343 -> ENSG00000188343)
Fetal anomalies v2.0 CHRND Gene migrated from ENSG00000135902 to ENSG00000135902 (gene set migration)
Fetal anomalies v2.0 STRA6 Gene migrated from ENSG00000137868 to ENSG00000137868 (gene set migration)
Fetal anomalies v2.0 PTCH1 Gene migrated from ENSG00000185920 to ENSG00000185920 (gene set migration)
Fetal anomalies v2.0 TAFAZZIN Gene symbol changed from TAZ to TAFAZZIN during gene set migration (ENSG00000102125 -> ENSG00000102125)
Fetal anomalies v2.0 TBX3 Gene migrated from ENSG00000135111 to ENSG00000135111 (gene set migration)
Fetal anomalies v2.0 TBX5 Gene migrated from ENSG00000089225 to ENSG00000089225 (gene set migration)
Fetal anomalies v2.0 CHRNA1 Gene migrated from ENSG00000138435 to ENSG00000138435 (gene set migration)
Fetal anomalies v2.0 TCTN2 Gene migrated from ENSG00000168778 to ENSG00000168778 (gene set migration)
Fetal anomalies v2.0 P3H1 Gene migrated from ENSG00000117385 to ENSG00000117385 (gene set migration)
Fetal anomalies v2.0 TFAP2A Gene migrated from ENSG00000137203 to ENSG00000137203 (gene set migration)
Fetal anomalies v2.0 ITGB4 Gene migrated from ENSG00000132470 to ENSG00000132470 (gene set migration)
Fetal anomalies v2.0 ITGA6 Gene migrated from ENSG00000091409 to ENSG00000091409 (gene set migration)
Fetal anomalies v2.0 BPNT2 Gene symbol changed from IMPAD1 to BPNT2 during gene set migration (ENSG00000104331 -> ENSG00000104331)
Fetal anomalies v2.0 MAP3K1 Gene migrated from ENSG00000095015 to ENSG00000095015 (gene set migration)
Fetal anomalies v2.0 TFAP2B Gene migrated from ENSG00000008196 to ENSG00000008196 (gene set migration)
Fetal anomalies v2.0 IHH Gene migrated from ENSG00000163501 to ENSG00000163501 (gene set migration)
Fetal anomalies v2.0 GTPBP3 Gene migrated from ENSG00000130299 to ENSG00000130299 (gene set migration)
Fetal anomalies v2.0 IGHMBP2 Gene migrated from ENSG00000132740 to ENSG00000132740 (gene set migration)
Fetal anomalies v2.0 CTNNA2 Gene migrated from ENSG00000066032 to ENSG00000066032 (gene set migration)
Fetal anomalies v2.0 IFIH1 Gene migrated from ENSG00000115267 to ENSG00000115267 (gene set migration)
Fetal anomalies v2.0 GRIP1 Gene migrated from ENSG00000155974 to ENSG00000155974 (gene set migration)
Fetal anomalies v2.0 TMEM165 Gene migrated from ENSG00000134851 to ENSG00000134851 (gene set migration)
Fetal anomalies v2.0 GRHL3 Gene migrated from ENSG00000158055 to ENSG00000158055 (gene set migration)
Fetal anomalies v2.0 BNC2 Gene migrated from ENSG00000173068 to ENSG00000173068 (gene set migration)
Fetal anomalies v2.0 GNS Gene migrated from ENSG00000135677 to ENSG00000135677 (gene set migration)
Fetal anomalies v2.0 IDUA Gene migrated from ENSG00000127415 to ENSG00000127415 (gene set migration)
Fetal anomalies v2.0 CUL7 Gene migrated from ENSG00000044090 to ENSG00000044090 (gene set migration)
Fetal anomalies v2.0 CUL4B Gene migrated from ENSG00000158290 to ENSG00000158290 (gene set migration)
Fetal anomalies v2.0 MAF Gene migrated from ENSG00000178573 to ENSG00000178573 (gene set migration)
Fetal anomalies v2.0 CTSK Gene migrated from ENSG00000143387 to ENSG00000143387 (gene set migration)
Fetal anomalies v2.0 CTSD Gene migrated from ENSG00000117984 to ENSG00000117984 (gene set migration)
Fetal anomalies v2.0 WLS Gene migrated from ENSG00000116729 to ENSG00000116729 (gene set migration)
Fetal anomalies v2.0 CHKB Gene migrated from ENSG00000100288 to ENSG00000100288 (gene set migration)
Fetal anomalies v2.0 CHD7 Gene migrated from ENSG00000171316 to ENSG00000171316 (gene set migration)
Fetal anomalies v2.0 CHD4 Gene migrated from ENSG00000111642 to ENSG00000111642 (gene set migration)
Fetal anomalies v2.0 CHAT Gene migrated from ENSG00000070748 to ENSG00000070748 (gene set migration)
Fetal anomalies v2.0 TMEM231 Gene migrated from ENSG00000205084 to ENSG00000205084 (gene set migration)
Fetal anomalies v2.0 CHAMP1 Gene migrated from ENSG00000198824 to ENSG00000198824 (gene set migration)
Fetal anomalies v2.0 EDNRB Gene migrated from ENSG00000136160 to ENSG00000136160 (gene set migration)
Fetal anomalies v2.0 AP4B1 Gene migrated from ENSG00000134262 to ENSG00000134262 (gene set migration)
Fetal anomalies v2.0 CFTR Gene migrated from ENSG00000001626 to ENSG00000001626 (gene set migration)
Fetal anomalies v2.0 CFAP53 Gene migrated from ENSG00000172361 to ENSG00000172361 (gene set migration)
Fetal anomalies v2.0 CEP83 Gene migrated from ENSG00000173588 to ENSG00000173588 (gene set migration)
Fetal anomalies v2.0 CEP57 Gene migrated from ENSG00000166037 to ENSG00000166037 (gene set migration)
Fetal anomalies v2.0 CEP41 Gene migrated from ENSG00000106477 to ENSG00000106477 (gene set migration)
Fetal anomalies v2.0 RAB3GAP2 Gene migrated from ENSG00000118873 to ENSG00000118873 (gene set migration)
Fetal anomalies v2.0 RXYLT1 Gene symbol changed from TMEM5 to RXYLT1 during gene set migration (ENSG00000118600 -> ENSG00000118600)
Fetal anomalies v2.0 ECEL1 Gene migrated from ENSG00000171551 to ENSG00000171551 (gene set migration)
Fetal anomalies v2.0 DICER1 Gene migrated from ENSG00000100697 to ENSG00000100697 (gene set migration)
Fetal anomalies v2.0 MEGF8 Gene migrated from ENSG00000105429 to ENSG00000105429 (gene set migration)
Fetal anomalies v2.0 TOMM7 Gene migrated from ENSG00000196683 to ENSG00000196683 (gene set migration)
Fetal anomalies v2.0 MYH7 Gene migrated from ENSG00000092054 to ENSG00000092054 (gene set migration)
Fetal anomalies v2.0 MEF2C Gene migrated from ENSG00000081189 to ENSG00000081189 (gene set migration)
Fetal anomalies v2.0 ANKS6 Gene migrated from ENSG00000165138 to ENSG00000165138 (gene set migration)
Fetal anomalies v2.0 MACF1 Gene migrated from ENSG00000127603 to ENSG00000127603 (gene set migration)
Fetal anomalies v2.0 MED12 Gene migrated from ENSG00000184634 to ENSG00000184634 (gene set migration)
Fetal anomalies v2.0 RAF1 Gene migrated from ENSG00000132155 to ENSG00000132155 (gene set migration)
Fetal anomalies v2.0 MCPH1 Gene migrated from ENSG00000147316 to ENSG00000147316 (gene set migration)
Fetal anomalies v2.0 MCOLN1 Gene migrated from ENSG00000090674 to ENSG00000090674 (gene set migration)
Fetal anomalies v2.0 CEP290 Gene migrated from ENSG00000198707 to ENSG00000198707 (gene set migration)
Fetal anomalies v2.0 TAOK1 Gene migrated from ENSG00000160551 to ENSG00000160551 (gene set migration)
Fetal anomalies v2.0 MATN3 Gene migrated from ENSG00000132031 to ENSG00000132031 (gene set migration)
Fetal anomalies v2.0 MASP1 Gene migrated from ENSG00000127241 to ENSG00000127241 (gene set migration)
Fetal anomalies v2.0 MAPRE2 Gene migrated from ENSG00000166974 to ENSG00000166974 (gene set migration)
Fetal anomalies v2.0 MAP2K2 Gene migrated from ENSG00000126934 to ENSG00000126934 (gene set migration)
Fetal anomalies v2.0 MAP2K1 Gene migrated from ENSG00000169032 to ENSG00000169032 (gene set migration)
Fetal anomalies v2.0 COL9A2 Gene migrated from ENSG00000049089 to ENSG00000049089 (gene set migration)
Fetal anomalies v2.0 CEP164 Gene migrated from ENSG00000110274 to ENSG00000110274 (gene set migration)
Fetal anomalies v2.0 MDFIC Gene migrated from ENSG00000135272 to ENSG00000135272 (gene set migration)
Fetal anomalies v2.0 TTC21B Gene migrated from ENSG00000123607 to ENSG00000123607 (gene set migration)
Fetal anomalies v2.0 EBP Gene migrated from ENSG00000147155 to ENSG00000147155 (gene set migration)
Fetal anomalies v2.0 MAGEL2 Gene migrated from ENSG00000254585 to ENSG00000254585 (gene set migration)
Fetal anomalies v2.0 MAB21L2 Gene migrated from ENSG00000181541 to ENSG00000181541 (gene set migration)
Fetal anomalies v2.0 TTC8 Gene migrated from ENSG00000165533 to ENSG00000165533 (gene set migration)
Fetal anomalies v2.0 LZTR1 Gene migrated from ENSG00000099949 to ENSG00000099949 (gene set migration)
Fetal anomalies v2.0 SEC23B Gene migrated from ENSG00000101310 to ENSG00000101310 (gene set migration)
Fetal anomalies v2.0 TUBB2A Gene migrated from ENSG00000137267 to ENSG00000137267 (gene set migration)
Fetal anomalies v2.0 LZTFL1 Gene migrated from ENSG00000163818 to ENSG00000163818 (gene set migration)
Fetal anomalies v2.0 CIROZ Gene symbol changed from C1orf127 to CIROZ during gene set migration (ENSG00000175262 -> ENSG00000175262)
Fetal anomalies v2.0 CEP152 Gene migrated from ENSG00000103995 to ENSG00000103995 (gene set migration)
Fetal anomalies v2.0 DNAAF11 Gene symbol changed from LRRC6 to DNAAF11 during gene set migration (ENSG00000129295 -> ENSG00000129295)
Fetal anomalies v2.0 LRP5 Gene migrated from ENSG00000162337 to ENSG00000162337 (gene set migration)
Fetal anomalies v2.0 GNB1 Gene migrated from ENSG00000078369 to ENSG00000078369 (gene set migration)
Fetal anomalies v2.0 DCX Gene migrated from ENSG00000077279 to ENSG00000077279 (gene set migration)
Fetal anomalies v2.0 LARS2 Gene migrated from ENSG00000011376 to ENSG00000011376 (gene set migration)
Fetal anomalies v2.0 KNL1 Gene migrated from ENSG00000137812 to ENSG00000137812 (gene set migration)
Fetal anomalies v2.0 LMNA Gene migrated from ENSG00000160789 to ENSG00000160789 (gene set migration)
Fetal anomalies v2.0 LMBR1 Gene migrated from ENSG00000105983 to ENSG00000105983 (gene set migration)
Fetal anomalies v2.0 RNU4-2 Gene migrated from ENSG00000202538 to ENSG00000202538 (gene set migration)
Fetal anomalies v2.0 CEP120 Gene migrated from ENSG00000168944 to ENSG00000168944 (gene set migration)
Fetal anomalies v2.0 SYT2 Gene migrated from ENSG00000143858 to ENSG00000143858 (gene set migration)
Fetal anomalies v2.0 CEP104 Gene migrated from ENSG00000116198 to ENSG00000116198 (gene set migration)
Fetal anomalies v2.0 KIF14 Gene migrated from ENSG00000118193 to ENSG00000118193 (gene set migration)
Fetal anomalies v2.0 EBF3 Gene migrated from ENSG00000108001 to ENSG00000108001 (gene set migration)
Fetal anomalies v2.0 ERGIC1 Gene migrated from ENSG00000113719 to ENSG00000113719 (gene set migration)
Fetal anomalies v2.0 ERBB3 Gene migrated from ENSG00000065361 to ENSG00000065361 (gene set migration)
Fetal anomalies v2.0 VPS33B Gene migrated from ENSG00000184056 to ENSG00000184056 (gene set migration)
Fetal anomalies v2.0 SEMA3A Gene migrated from ENSG00000075213 to ENSG00000075213 (gene set migration)
Fetal anomalies v2.0 DYRK1A Gene migrated from ENSG00000157540 to ENSG00000157540 (gene set migration)
Fetal anomalies v2.0 DYNC2H1 Gene migrated from ENSG00000187240 to ENSG00000187240 (gene set migration)
Fetal anomalies v2.0 INVS Gene migrated from ENSG00000119509 to ENSG00000119509 (gene set migration)
Fetal anomalies v2.0 INPP5E Gene migrated from ENSG00000148384 to ENSG00000148384 (gene set migration)
Fetal anomalies v2.0 GDF11 Gene migrated from ENSG00000135414 to ENSG00000135414 (gene set migration)
Fetal anomalies v2.0 IKBKG Gene migrated from ENSG00000269335 to ENSG00000269335 (gene set migration)
Fetal anomalies v2.0 AFG2A Gene symbol changed from SPATA5 to AFG2A during gene set migration (ENSG00000145375 -> ENSG00000145375)
Fetal anomalies v2.0 CPAP Gene symbol changed from CENPJ to CPAP during gene set migration (ENSG00000151849 -> ENSG00000151849)
Fetal anomalies v2.0 WDR19 Gene migrated from ENSG00000157796 to ENSG00000157796 (gene set migration)
Fetal anomalies v2.0 NONO Gene migrated from ENSG00000147140 to ENSG00000147140 (gene set migration)
Fetal anomalies v2.0 CDT1 Gene migrated from ENSG00000167513 to ENSG00000167513 (gene set migration)
Fetal anomalies v2.0 DYNC1H1 Gene migrated from ENSG00000197102 to ENSG00000197102 (gene set migration)
Fetal anomalies v2.0 CDON Gene migrated from ENSG00000064309 to ENSG00000064309 (gene set migration)
Fetal anomalies v2.0 TBC1D1 Gene migrated from ENSG00000065882 to ENSG00000065882 (gene set migration)
Fetal anomalies v2.0 CDKN1C Gene migrated from ENSG00000129757 to ENSG00000129757 (gene set migration)
Fetal anomalies v2.0 ACTB Gene migrated from ENSG00000075624 to ENSG00000075624 (gene set migration)
Fetal anomalies v2.0 ELOVL4 Gene migrated from ENSG00000118402 to ENSG00000118402 (gene set migration)
Fetal anomalies v2.0 NHS Gene migrated from ENSG00000188158 to ENSG00000188158 (gene set migration)
Fetal anomalies v2.0 DYM Gene migrated from ENSG00000141627 to ENSG00000141627 (gene set migration)
Fetal anomalies v2.0 DPM1 Gene migrated from ENSG00000000419 to ENSG00000000419 (gene set migration)
Fetal anomalies v2.0 GINS3 Gene migrated from ENSG00000181938 to ENSG00000181938 (gene set migration)
Fetal anomalies v2.0 KDM2B Gene migrated from ENSG00000089094 to ENSG00000089094 (gene set migration)
Fetal anomalies v2.0 ARCN1 Gene migrated from ENSG00000095139 to ENSG00000095139 (gene set migration)
Fetal anomalies v2.0 VPS51 Gene migrated from ENSG00000149823 to ENSG00000149823 (gene set migration)
Fetal anomalies v2.0 SCYL2 Gene migrated from ENSG00000136021 to ENSG00000136021 (gene set migration)
Fetal anomalies v2.0 ABL1 Gene migrated from ENSG00000097007 to ENSG00000097007 (gene set migration)
Fetal anomalies v2.0 RPS28 Gene migrated from ENSG00000233927 to ENSG00000233927 (gene set migration)
Fetal anomalies v2.0 RSPRY1 Gene migrated from ENSG00000159579 to ENSG00000159579 (gene set migration)
Fetal anomalies v2.0 COL10A1 Gene migrated from ENSG00000123500 to ENSG00000123500 (gene set migration)
Fetal anomalies v2.0 DNM1L Gene migrated from ENSG00000087470 to ENSG00000087470 (gene set migration)
Fetal anomalies v2.0 DDR2 Gene migrated from ENSG00000162733 to ENSG00000162733 (gene set migration)
Fetal anomalies v2.0 DIAPH1 Gene migrated from ENSG00000131504 to ENSG00000131504 (gene set migration)
Fetal anomalies v2.0 B9D1 Gene migrated from ENSG00000108641 to ENSG00000108641 (gene set migration)
Fetal anomalies v2.0 RAC1 Gene migrated from ENSG00000136238 to ENSG00000136238 (gene set migration)
Fetal anomalies v2.0 CDK5 Gene migrated from ENSG00000164885 to ENSG00000164885 (gene set migration)
Fetal anomalies v2.0 SNAPIN Gene migrated from ENSG00000143553 to ENSG00000143553 (gene set migration)
Fetal anomalies v2.0 CPLANE2 Gene symbol changed from RSG1 to CPLANE2 during gene set migration (ENSG00000132881 -> ENSG00000132881)
Fetal anomalies v2.0 TRAP1 Gene migrated from ENSG00000126602 to ENSG00000126602 (gene set migration)
Fetal anomalies v2.0 TP63 Gene migrated from ENSG00000073282 to ENSG00000073282 (gene set migration)
Fetal anomalies v2.0 TBC1D32 Gene migrated from ENSG00000146350 to ENSG00000146350 (gene set migration)
Fetal anomalies v2.0 SMAD5 Gene migrated from ENSG00000113658 to ENSG00000113658 (gene set migration)
Fetal anomalies v2.0 RREB1 Gene migrated from ENSG00000124782 to ENSG00000124782 (gene set migration)
Fetal anomalies v2.0 FAAP100 Gene migrated from ENSG00000185504 to ENSG00000185504 (gene set migration)
Fetal anomalies v2.0 LEF1 Gene migrated from ENSG00000138795 to ENSG00000138795 (gene set migration)
Fetal anomalies v2.0 DCDC2 Gene migrated from ENSG00000146038 to ENSG00000146038 (gene set migration)
Fetal anomalies v2.0 CEP76 Gene migrated from ENSG00000101624 to ENSG00000101624 (gene set migration)
Fetal anomalies v2.0 CCDC32 Gene migrated from ENSG00000128891 to ENSG00000128891 (gene set migration)
Fetal anomalies v2.0 CBY1 Gene migrated from ENSG00000100211 to ENSG00000100211 (gene set migration)
Fetal anomalies v2.0 BBIP1 Gene migrated from ENSG00000214413 to ENSG00000214413 (gene set migration)
Fetal anomalies v2.0 AMOTL1 Gene migrated from ENSG00000166025 to ENSG00000166025 (gene set migration)
Fetal anomalies v2.0 BRF2 Gene migrated from ENSG00000104221 to ENSG00000104221 (gene set migration)
Fetal anomalies v2.0 ODC1 Gene migrated from ENSG00000115758 to ENSG00000115758 (gene set migration)
Fetal anomalies v2.0 RNU4ATAC Gene migrated from ENSG00000264229 to ENSG00000264229 (gene set migration)
Fetal anomalies v2.0 GON4L Gene migrated from ENSG00000116580 to ENSG00000116580 (gene set migration)
Fetal anomalies v2.0 FLVCR1 Gene migrated from ENSG00000162769 to ENSG00000162769 (gene set migration)
Fetal anomalies v2.0 EHBP1L1 Gene migrated from ENSG00000173442 to ENSG00000173442 (gene set migration)
Fetal anomalies v2.0 KLF1 Gene migrated from ENSG00000105610 to ENSG00000105610 (gene set migration)
Fetal anomalies v2.0 PLS3 Gene migrated from ENSG00000102024 to ENSG00000102024 (gene set migration)
Fetal anomalies v2.0 MYCN Gene migrated from ENSG00000134323 to ENSG00000134323 (gene set migration)
Fetal anomalies v2.0 ATRX Gene migrated from ENSG00000085224 to ENSG00000085224 (gene set migration)
Fetal anomalies v2.0 PPP1R13L Gene migrated from ENSG00000104881 to ENSG00000104881 (gene set migration)
Fetal anomalies v2.0 LNPK Gene migrated from ENSG00000144320 to ENSG00000144320 (gene set migration)
Fetal anomalies v2.0 ATP5PO Gene symbol changed from ATP5O to ATP5PO during gene set migration (ENSG00000241837 -> ENSG00000241837)
Fetal anomalies v2.0 PLCB4 Gene migrated from ENSG00000101333 to ENSG00000101333 (gene set migration)
Fetal anomalies v2.0 KDM5C Gene migrated from ENSG00000126012 to ENSG00000126012 (gene set migration)
Fetal anomalies v2.0 RPL26 Gene migrated from ENSG00000161970 to ENSG00000161970 (gene set migration)
Fetal anomalies v2.0 SASS6 Gene migrated from ENSG00000156876 to ENSG00000156876 (gene set migration)
Fetal anomalies v2.0 PDE12 Gene migrated from ENSG00000174840 to ENSG00000174840 (gene set migration)
Fetal anomalies v2.0 KBTBD2 Gene migrated from ENSG00000170852 to ENSG00000170852 (gene set migration)
Fetal anomalies v2.0 USP14 Gene migrated from ENSG00000101557 to ENSG00000101557 (gene set migration)
Fetal anomalies v2.0 INTS13 Gene migrated from ENSG00000064102 to ENSG00000064102 (gene set migration)
Fetal anomalies v2.0 ERI1 Gene migrated from ENSG00000104626 to ENSG00000104626 (gene set migration)
Fetal anomalies v2.0 NARS1 Gene symbol changed from NARS to NARS1 during gene set migration (ENSG00000134440 -> ENSG00000134440)
Fetal anomalies v2.0 DRG1 Gene migrated from ENSG00000185721 to ENSG00000185721 (gene set migration)
Fetal anomalies v2.0 MYMK Gene migrated from ENSG00000187616 to ENSG00000187616 (gene set migration)
Fetal anomalies v2.0 CELSR1 Gene migrated from ENSG00000075275 to ENSG00000075275 (gene set migration)
Fetal anomalies v2.0 KDR Gene migrated from ENSG00000128052 to ENSG00000128052 (gene set migration)
Fetal anomalies v2.0 DOHH Gene migrated from ENSG00000129932 to ENSG00000129932 (gene set migration)
Fetal anomalies v2.0 DHRSX Gene migrated from ENSG00000169084 to ENSG00000169084 (gene set migration)
Fetal anomalies v2.0 KIF26A Gene migrated from ENSG00000066735 to ENSG00000066735 (gene set migration)
Fetal anomalies v2.0 CELSR3 Gene migrated from ENSG00000008300 to ENSG00000008300 (gene set migration)
Fetal anomalies v2.0 MAX Gene migrated from ENSG00000125952 to ENSG00000125952 (gene set migration)
Fetal anomalies v2.0 ZRSR2 Gene migrated from ENSG00000169249 to ENSG00000169249 (gene set migration)
Fetal anomalies v2.0 CACHD1 Gene migrated from ENSG00000158966 to ENSG00000158966 (gene set migration)
Fetal anomalies v2.0 NUDT2 Gene migrated from ENSG00000164978 to ENSG00000164978 (gene set migration)
Fetal anomalies v2.0 CNOT2 Gene migrated from ENSG00000111596 to ENSG00000111596 (gene set migration)
Fetal anomalies v2.0 ESAM Gene migrated from ENSG00000149564 to ENSG00000149564 (gene set migration)
Fetal anomalies v2.0 CRIPT Gene migrated from ENSG00000119878 to ENSG00000119878 (gene set migration)
Fetal anomalies v2.0 THSD1 Gene migrated from ENSG00000136114 to ENSG00000136114 (gene set migration)
Fetal anomalies v2.0 HMGB1 Gene migrated from ENSG00000189403 to ENSG00000189403 (gene set migration)
Fetal anomalies v2.0 FRA10AC1 Gene migrated from ENSG00000148690 to ENSG00000148690 (gene set migration)
Fetal anomalies v2.0 FOSL2 Gene migrated from ENSG00000075426 to ENSG00000075426 (gene set migration)
Fetal anomalies v2.0 RAP1B Gene migrated from ENSG00000127314 to ENSG00000127314 (gene set migration)
Fetal anomalies v2.0 LMNB2 Gene migrated from ENSG00000176619 to ENSG00000176619 (gene set migration)
Fetal anomalies v2.0 TRIT1 Gene migrated from ENSG00000043514 to ENSG00000043514 (gene set migration)
Fetal anomalies v2.0 CASP2 Gene migrated from ENSG00000106144 to ENSG00000106144 (gene set migration)
Fetal anomalies v2.0 CDK13 Gene migrated from ENSG00000065883 to ENSG00000065883 (gene set migration)
Fetal anomalies v2.0 CDH3 Gene migrated from ENSG00000062038 to ENSG00000062038 (gene set migration)
Fetal anomalies v2.0 CDH1 Gene migrated from ENSG00000039068 to ENSG00000039068 (gene set migration)
Fetal anomalies v2.0 CDC45 Gene migrated from ENSG00000093009 to ENSG00000093009 (gene set migration)
Fetal anomalies v2.0 CDAN1 Gene migrated from ENSG00000140326 to ENSG00000140326 (gene set migration)
Fetal anomalies v2.0 CA2 Gene migrated from ENSG00000104267 to ENSG00000104267 (gene set migration)
Fetal anomalies v2.0 CFAP410 Gene symbol changed from C21orf2 to CFAP410 during gene set migration (ENSG00000160226 -> ENSG00000160226)
Fetal anomalies v2.0 CPLANE1 Gene symbol changed from C5orf42 to CPLANE1 during gene set migration (ENSG00000197603 -> ENSG00000197603)
Fetal anomalies v2.0 FTO Gene migrated from ENSG00000140718 to ENSG00000140718 (gene set migration)
Fetal anomalies v2.0 CFAP300 Gene symbol changed from C11orf70 to CFAP300 during gene set migration (ENSG00000137691 -> ENSG00000137691)
Fetal anomalies v2.0 BRAF Gene migrated from ENSG00000157764 to ENSG00000157764 (gene set migration)
Fetal anomalies v2.0 BMPR1B Gene migrated from ENSG00000138696 to ENSG00000138696 (gene set migration)
Fetal anomalies v2.0 BMP4 Gene migrated from ENSG00000125378 to ENSG00000125378 (gene set migration)
Fetal anomalies v2.0 BMP2 Gene migrated from ENSG00000125845 to ENSG00000125845 (gene set migration)
Fetal anomalies v2.0 BMPER Gene migrated from ENSG00000164619 to ENSG00000164619 (gene set migration)
Fetal anomalies v2.0 DLL4 Gene migrated from ENSG00000128917 to ENSG00000128917 (gene set migration)
Fetal anomalies v2.0 BFSP2 Gene migrated from ENSG00000170819 to ENSG00000170819 (gene set migration)
Fetal anomalies v2.0 BCS1L Gene migrated from ENSG00000074582 to ENSG00000074582 (gene set migration)
Fetal anomalies v2.0 BCOR Gene migrated from ENSG00000183337 to ENSG00000183337 (gene set migration)
Fetal anomalies v2.0 B3GLCT Gene migrated from ENSG00000187676 to ENSG00000187676 (gene set migration)
Fetal anomalies v2.0 B3GAT3 Gene migrated from ENSG00000149541 to ENSG00000149541 (gene set migration)
Fetal anomalies v2.0 B3GALT6 Gene migrated from ENSG00000176022 to ENSG00000176022 (gene set migration)
Fetal anomalies v2.0 DKC1 Gene migrated from ENSG00000130826 to ENSG00000130826 (gene set migration)
Fetal anomalies v2.0 BBS4 Gene migrated from ENSG00000140463 to ENSG00000140463 (gene set migration)
Fetal anomalies v2.0 BBS12 Gene migrated from ENSG00000181004 to ENSG00000181004 (gene set migration)
Fetal anomalies v2.0 BBS10 Gene migrated from ENSG00000179941 to ENSG00000179941 (gene set migration)
Fetal anomalies v2.0 HNF4A Gene migrated from ENSG00000101076 to ENSG00000101076 (gene set migration)
Fetal anomalies v2.0 HNF1B Gene migrated from ENSG00000275410 to ENSG00000275410 (gene set migration)
Fetal anomalies v2.0 HNRNPK Gene migrated from ENSG00000165119 to ENSG00000165119 (gene set migration)
Fetal anomalies v2.0 HES7 Gene migrated from ENSG00000179111 to ENSG00000179111 (gene set migration)
Fetal anomalies v2.0 HADHA Gene migrated from ENSG00000084754 to ENSG00000084754 (gene set migration)
Fetal anomalies v2.0 ASNS Gene migrated from ENSG00000070669 to ENSG00000070669 (gene set migration)
Fetal anomalies v2.0 ASCC1 Gene migrated from ENSG00000138303 to ENSG00000138303 (gene set migration)
Fetal anomalies v2.0 ASAH1 Gene migrated from ENSG00000104763 to ENSG00000104763 (gene set migration)
Fetal anomalies v2.0 ARX Gene migrated from ENSG00000004848 to ENSG00000004848 (gene set migration)
Fetal anomalies v2.0 ODAD2 Gene symbol changed from ARMC4 to ODAD2 during gene set migration (ENSG00000169126 -> ENSG00000169126)
Fetal anomalies v2.0 ARID1B Gene migrated from ENSG00000049618 to ENSG00000049618 (gene set migration)
Fetal anomalies v2.0 ARID1A Gene migrated from ENSG00000117713 to ENSG00000117713 (gene set migration)
Fetal anomalies v2.0 ASPM Gene migrated from ENSG00000066279 to ENSG00000066279 (gene set migration)
Fetal anomalies v2.0 HAAO Gene migrated from ENSG00000162882 to ENSG00000162882 (gene set migration)
Fetal anomalies v2.0 BBS2 Gene migrated from ENSG00000125124 to ENSG00000125124 (gene set migration)
Fetal anomalies v2.0 ASXL1 Gene migrated from ENSG00000171456 to ENSG00000171456 (gene set migration)
Fetal anomalies v2.0 ARSL Gene symbol changed from ARSE to ARSL during gene set migration (ENSG00000157399 -> ENSG00000157399)
Fetal anomalies v2.0 ARSB Gene migrated from ENSG00000113273 to ENSG00000113273 (gene set migration)
Fetal anomalies v2.0 ANOS1 Gene migrated from ENSG00000011201 to ENSG00000011201 (gene set migration)
Fetal anomalies v2.0 ANKH Gene migrated from ENSG00000154122 to ENSG00000154122 (gene set migration)
Fetal anomalies v2.0 ANAPC1 Gene migrated from ENSG00000153107 to ENSG00000153107 (gene set migration)
Fetal anomalies v2.0 AMT Gene migrated from ENSG00000145020 to ENSG00000145020 (gene set migration)
Fetal anomalies v2.0 EFEMP2 Gene migrated from ENSG00000172638 to ENSG00000172638 (gene set migration)
Fetal anomalies v2.0 AMER1 Gene migrated from ENSG00000184675 to ENSG00000184675 (gene set migration)
Fetal anomalies v2.0 ALX1 Gene migrated from ENSG00000180318 to ENSG00000180318 (gene set migration)
Fetal anomalies v2.0 ALPL Gene migrated from ENSG00000162551 to ENSG00000162551 (gene set migration)
Fetal anomalies v2.0 ALMS1 Gene migrated from ENSG00000116127 to ENSG00000116127 (gene set migration)
Fetal anomalies v2.0 ALG8 Gene migrated from ENSG00000159063 to ENSG00000159063 (gene set migration)
Fetal anomalies v2.0 ALG6 Gene migrated from ENSG00000088035 to ENSG00000088035 (gene set migration)
Fetal anomalies v2.0 ALDH1A3 Gene migrated from ENSG00000184254 to ENSG00000184254 (gene set migration)
Fetal anomalies v2.0 AGPS Gene migrated from ENSG00000018510 to ENSG00000018510 (gene set migration)
Fetal anomalies v2.0 HNRNPH2 Gene migrated from ENSG00000126945 to ENSG00000126945 (gene set migration)
Fetal anomalies v2.0 NAA10 Gene migrated from ENSG00000102030 to ENSG00000102030 (gene set migration)
Fetal anomalies v2.0 ADNP Gene migrated from ENSG00000101126 to ENSG00000101126 (gene set migration)
Fetal anomalies v2.0 AFF4 Gene migrated from ENSG00000072364 to ENSG00000072364 (gene set migration)
Fetal anomalies v2.0 ACE Gene migrated from ENSG00000159640 to ENSG00000159640 (gene set migration)
Fetal anomalies v2.0 ACADVL Gene migrated from ENSG00000072778 to ENSG00000072778 (gene set migration)
Fetal anomalies v2.0 AGTR1 Gene migrated from ENSG00000144891 to ENSG00000144891 (gene set migration)
Fetal anomalies v2.0 ADGRG1 Gene migrated from ENSG00000205336 to ENSG00000205336 (gene set migration)
Fetal anomalies v2.0 ACTA2 Gene migrated from ENSG00000107796 to ENSG00000107796 (gene set migration)
Fetal anomalies v2.0 WASHC5 Gene migrated from ENSG00000164961 to ENSG00000164961 (gene set migration)
Fetal anomalies v2.0 NEXN Gene migrated from ENSG00000162614 to ENSG00000162614 (gene set migration)
Fetal anomalies v2.0 SMARCAL1 Gene migrated from ENSG00000138375 to ENSG00000138375 (gene set migration)
Fetal anomalies v2.0 SKIC2 Gene symbol changed from SKIV2L to SKIC2 during gene set migration (ENSG00000204351 -> ENSG00000204351)
Fetal anomalies v2.0 ZNF526 Gene migrated from ENSG00000167625 to ENSG00000167625 (gene set migration)
Fetal anomalies v2.0 ACTG2 Gene migrated from ENSG00000163017 to ENSG00000163017 (gene set migration)
Fetal anomalies v2.0 GNAS Gene migrated from ENSG00000087460 to ENSG00000087460 (gene set migration)
Fetal anomalies v2.0 GMPPB Gene migrated from ENSG00000173540 to ENSG00000173540 (gene set migration)
Fetal anomalies v2.0 GLI3 Gene migrated from ENSG00000106571 to ENSG00000106571 (gene set migration)
Fetal anomalies v2.0 KCNQ1 Gene migrated from ENSG00000053918 to ENSG00000053918 (gene set migration)
Fetal anomalies v2.0 GLE1 Gene migrated from ENSG00000119392 to ENSG00000119392 (gene set migration)
Fetal anomalies v2.0 GJA8 Gene migrated from ENSG00000121634 to ENSG00000121634 (gene set migration)
Fetal anomalies v2.0 GDF5 Gene migrated from ENSG00000125965 to ENSG00000125965 (gene set migration)
Fetal anomalies v2.0 TTC7A Gene migrated from ENSG00000068724 to ENSG00000068724 (gene set migration)
Fetal anomalies v2.0 DEAF1 Gene migrated from ENSG00000177030 to ENSG00000177030 (gene set migration)
Fetal anomalies v2.0 YAP1 Gene migrated from ENSG00000137693 to ENSG00000137693 (gene set migration)
Fetal anomalies v2.0 WWOX Gene migrated from ENSG00000186153 to ENSG00000186153 (gene set migration)
Fetal anomalies v2.0 WBP11 Gene migrated from ENSG00000084463 to ENSG00000084463 (gene set migration)
Fetal anomalies v2.0 WDR73 Gene migrated from ENSG00000177082 to ENSG00000177082 (gene set migration)
Fetal anomalies v2.0 USP18 Gene migrated from ENSG00000184979 to ENSG00000184979 (gene set migration)
Fetal anomalies v2.0 UBE2T Gene migrated from ENSG00000077152 to ENSG00000077152 (gene set migration)
Fetal anomalies v2.0 TSFM Gene migrated from ENSG00000123297 to ENSG00000123297 (gene set migration)
Fetal anomalies v2.0 TTI2 Gene migrated from ENSG00000129696 to ENSG00000129696 (gene set migration)
Fetal anomalies v2.0 TSEN2 Gene migrated from ENSG00000154743 to ENSG00000154743 (gene set migration)
Fetal anomalies v2.0 TRAPPC11 Gene migrated from ENSG00000168538 to ENSG00000168538 (gene set migration)
Fetal anomalies v2.0 TRAIP Gene migrated from ENSG00000183763 to ENSG00000183763 (gene set migration)
Fetal anomalies v2.0 TRAF3IP1 Gene migrated from ENSG00000204104 to ENSG00000204104 (gene set migration)
Fetal anomalies v2.0 TOR1A Gene migrated from ENSG00000136827 to ENSG00000136827 (gene set migration)
Fetal anomalies v2.0 GDF1 Gene migrated from ENSG00000130283 to ENSG00000130283 (gene set migration)
Fetal anomalies v2.0 TOE1 Gene migrated from ENSG00000132773 to ENSG00000132773 (gene set migration)
Fetal anomalies v2.0 TNNT3 Gene migrated from ENSG00000130595 to ENSG00000130595 (gene set migration)
Fetal anomalies v2.0 TMEM38B Gene migrated from ENSG00000095209 to ENSG00000095209 (gene set migration)
Fetal anomalies v2.0 TMEM216 Gene migrated from ENSG00000187049 to ENSG00000187049 (gene set migration)
Fetal anomalies v2.0 TMEM260 Gene migrated from ENSG00000070269 to ENSG00000070269 (gene set migration)
Fetal anomalies v2.0 TMEM107 Gene migrated from ENSG00000179029 to ENSG00000179029 (gene set migration)
Fetal anomalies v2.0 TENM3 Gene migrated from ENSG00000218336 to ENSG00000218336 (gene set migration)
Fetal anomalies v2.0 TELO2 Gene migrated from ENSG00000100726 to ENSG00000100726 (gene set migration)
Fetal anomalies v2.0 TBX22 Gene migrated from ENSG00000122145 to ENSG00000122145 (gene set migration)
Fetal anomalies v2.0 STIL Gene migrated from ENSG00000123473 to ENSG00000123473 (gene set migration)
Fetal anomalies v2.0 STRADA Gene migrated from ENSG00000266173 to ENSG00000266173 (gene set migration)
Fetal anomalies v2.0 SUFU Gene migrated from ENSG00000107882 to ENSG00000107882 (gene set migration)
Fetal anomalies v2.0 G6PC3 Gene migrated from ENSG00000141349 to ENSG00000141349 (gene set migration)
Fetal anomalies v2.0 STAC3 Gene migrated from ENSG00000185482 to ENSG00000185482 (gene set migration)
Fetal anomalies v2.0 FTL Gene migrated from ENSG00000087086 to ENSG00000087086 (gene set migration)
Fetal anomalies v2.0 SOX18 Gene migrated from ENSG00000203883 to ENSG00000203883 (gene set migration)
Fetal anomalies v2.0 SOX11 Gene migrated from ENSG00000176887 to ENSG00000176887 (gene set migration)
Fetal anomalies v2.0 SMARCE1 Gene migrated from ENSG00000073584 to ENSG00000073584 (gene set migration)
Fetal anomalies v2.0 SMG9 Gene migrated from ENSG00000105771 to ENSG00000105771 (gene set migration)
Fetal anomalies v2.0 SMPD4 Gene migrated from ENSG00000136699 to ENSG00000136699 (gene set migration)
Fetal anomalies v2.0 SOX6 Gene migrated from ENSG00000110693 to ENSG00000110693 (gene set migration)
Fetal anomalies v2.0 SMARCC1 Gene migrated from ENSG00000173473 to ENSG00000173473 (gene set migration)
Fetal anomalies v2.0 SLC5A7 Gene migrated from ENSG00000115665 to ENSG00000115665 (gene set migration)
Fetal anomalies v2.0 SLC6A9 Gene migrated from ENSG00000196517 to ENSG00000196517 (gene set migration)
Fetal anomalies v2.0 SERPINH1 Gene migrated from ENSG00000149257 to ENSG00000149257 (gene set migration)
Fetal anomalies v2.0 FOXRED1 Gene migrated from ENSG00000110074 to ENSG00000110074 (gene set migration)
Fetal anomalies v2.0 SCUBE3 Gene migrated from ENSG00000146197 to ENSG00000146197 (gene set migration)
Fetal anomalies v2.0 SEC24D Gene migrated from ENSG00000150961 to ENSG00000150961 (gene set migration)
Fetal anomalies v2.0 SCN3A Gene migrated from ENSG00000153253 to ENSG00000153253 (gene set migration)
Fetal anomalies v2.0 SCLT1 Gene migrated from ENSG00000151466 to ENSG00000151466 (gene set migration)
Fetal anomalies v2.0 RBM10 Gene migrated from ENSG00000182872 to ENSG00000182872 (gene set migration)
Fetal anomalies v2.0 RBBP8 Gene migrated from ENSG00000101773 to ENSG00000101773 (gene set migration)
Fetal anomalies v2.0 RAD51C Gene migrated from ENSG00000108384 to ENSG00000108384 (gene set migration)
Fetal anomalies v2.0 FOXP3 Gene migrated from ENSG00000049768 to ENSG00000049768 (gene set migration)
Fetal anomalies v2.0 RAD51 Gene migrated from ENSG00000051180 to ENSG00000051180 (gene set migration)
Fetal anomalies v2.0 RAB11B Gene migrated from ENSG00000185236 to ENSG00000185236 (gene set migration)
Fetal anomalies v2.0 POP1 Gene migrated from ENSG00000104356 to ENSG00000104356 (gene set migration)
Fetal anomalies v2.0 PRKAG2 Gene migrated from ENSG00000106617 to ENSG00000106617 (gene set migration)
Fetal anomalies v2.0 MED25 Gene migrated from ENSG00000104973 to ENSG00000104973 (gene set migration)
Fetal anomalies v2.0 PLPBP Gene migrated from ENSG00000147471 to ENSG00000147471 (gene set migration)
Fetal anomalies v2.0 PLG Gene migrated from ENSG00000122194 to ENSG00000122194 (gene set migration)
Fetal anomalies v2.0 PLD1 Gene migrated from ENSG00000075651 to ENSG00000075651 (gene set migration)
Fetal anomalies v2.0 DNAAF6 Gene symbol changed from PIH1D3 to DNAAF6 during gene set migration (ENSG00000080572 -> ENSG00000080572)
Fetal anomalies v2.0 PIGN Gene migrated from ENSG00000197563 to ENSG00000197563 (gene set migration)
Fetal anomalies v2.0 PIBF1 Gene migrated from ENSG00000083535 to ENSG00000083535 (gene set migration)
Fetal anomalies v2.0 EFNB1 Gene migrated from ENSG00000090776 to ENSG00000090776 (gene set migration)
Fetal anomalies v2.0 PBX1 Gene migrated from ENSG00000185630 to ENSG00000185630 (gene set migration)
Fetal anomalies v2.0 OTUD5 Gene migrated from ENSG00000068308 to ENSG00000068308 (gene set migration)
Fetal anomalies v2.0 OSGEP Gene migrated from ENSG00000092094 to ENSG00000092094 (gene set migration)
Fetal anomalies v2.0 NXN Gene migrated from ENSG00000167693 to ENSG00000167693 (gene set migration)
Fetal anomalies v2.0 NUP88 Gene migrated from ENSG00000108559 to ENSG00000108559 (gene set migration)
Fetal anomalies v2.0 ADAMTSL2 Gene migrated from ENSG00000197859 to ENSG00000197859 (gene set migration)
Fetal anomalies v2.0 NOVA2 Gene migrated from ENSG00000104967 to ENSG00000104967 (gene set migration)
Fetal anomalies v2.0 MAST1 Gene migrated from ENSG00000105613 to ENSG00000105613 (gene set migration)
Fetal anomalies v2.0 MYL1 Gene migrated from ENSG00000168530 to ENSG00000168530 (gene set migration)
Fetal anomalies v2.0 MYOD1 Gene migrated from ENSG00000129152 to ENSG00000129152 (gene set migration)
Fetal anomalies v2.0 FOXC1 Gene migrated from ENSG00000054598 to ENSG00000054598 (gene set migration)
Fetal anomalies v2.0 MYO18B Gene migrated from ENSG00000133454 to ENSG00000133454 (gene set migration)
Fetal anomalies v2.0 MYL9 Gene migrated from ENSG00000101335 to ENSG00000101335 (gene set migration)
Fetal anomalies v2.0 MITF Gene migrated from ENSG00000187098 to ENSG00000187098 (gene set migration)
Fetal anomalies v2.0 MECOM Gene migrated from ENSG00000085276 to ENSG00000085276 (gene set migration)
Fetal anomalies v2.0 MED13L Gene migrated from ENSG00000123066 to ENSG00000123066 (gene set migration)
Fetal anomalies v2.0 MED17 Gene migrated from ENSG00000042429 to ENSG00000042429 (gene set migration)
Fetal anomalies v2.0 MAMLD1 Gene migrated from ENSG00000013619 to ENSG00000013619 (gene set migration)
Fetal anomalies v2.0 LRRC56 Gene migrated from ENSG00000161328 to ENSG00000161328 (gene set migration)
Fetal anomalies v2.0 NDUFB11 Gene migrated from ENSG00000147123 to ENSG00000147123 (gene set migration)
Fetal anomalies v2.0 KLHL7 Gene migrated from ENSG00000122550 to ENSG00000122550 (gene set migration)
Fetal anomalies v2.0 KIF5C Gene migrated from ENSG00000168280 to ENSG00000168280 (gene set migration)
Fetal anomalies v2.0 KIF2A Gene migrated from ENSG00000068796 to ENSG00000068796 (gene set migration)
Fetal anomalies v2.0 KIAA0753 Gene migrated from ENSG00000198920 to ENSG00000198920 (gene set migration)
Fetal anomalies v2.0 JAM3 Gene migrated from ENSG00000166086 to ENSG00000166086 (gene set migration)
Fetal anomalies v2.0 ITGA8 Gene migrated from ENSG00000077943 to ENSG00000077943 (gene set migration)
Fetal anomalies v2.0 KATNB1 Gene migrated from ENSG00000140854 to ENSG00000140854 (gene set migration)
Fetal anomalies v2.0 IFT52 Gene migrated from ENSG00000101052 to ENSG00000101052 (gene set migration)
Fetal anomalies v2.0 FAT1 Gene migrated from ENSG00000083857 to ENSG00000083857 (gene set migration)
Fetal anomalies v2.0 H4C3 Gene symbol changed from HIST1H4C to H4C3 during gene set migration (ENSG00000197061 -> ENSG00000197061)
Fetal anomalies v2.0 HESX1 Gene migrated from ENSG00000163666 to ENSG00000163666 (gene set migration)
Fetal anomalies v2.0 HADHB Gene migrated from ENSG00000138029 to ENSG00000138029 (gene set migration)
Fetal anomalies v2.0 GZF1 Gene migrated from ENSG00000125812 to ENSG00000125812 (gene set migration)
Fetal anomalies v2.0 GPX4 Gene migrated from ENSG00000167468 to ENSG00000167468 (gene set migration)
Fetal anomalies v2.0 GPC6 Gene migrated from ENSG00000183098 to ENSG00000183098 (gene set migration)
Fetal anomalies v2.0 GMNN Gene migrated from ENSG00000112312 to ENSG00000112312 (gene set migration)
Fetal anomalies v2.0 GLI1 Gene migrated from ENSG00000111087 to ENSG00000111087 (gene set migration)
Fetal anomalies v2.0 FRMPD4 Gene migrated from ENSG00000169933 to ENSG00000169933 (gene set migration)
Fetal anomalies v2.0 SH3PXD2B Gene migrated from ENSG00000174705 to ENSG00000174705 (gene set migration)
Fetal anomalies v2.0 TENT5A Gene symbol changed from FAM46A to TENT5A during gene set migration (ENSG00000112773 -> ENSG00000112773)
Fetal anomalies v2.0 ANGPT2 Gene migrated from ENSG00000091879 to ENSG00000091879 (gene set migration)
Fetal anomalies v2.0 EIF2S3 Gene migrated from ENSG00000130741 to ENSG00000130741 (gene set migration)
Fetal anomalies v2.0 EMC1 Gene migrated from ENSG00000127463 to ENSG00000127463 (gene set migration)
Fetal anomalies v2.0 DOCK7 Gene migrated from ENSG00000116641 to ENSG00000116641 (gene set migration)
Fetal anomalies v2.0 DPF2 Gene migrated from ENSG00000133884 to ENSG00000133884 (gene set migration)
Fetal anomalies v2.0 DNAI2 Gene migrated from ENSG00000171595 to ENSG00000171595 (gene set migration)
Fetal anomalies v2.0 DNAJC19 Gene migrated from ENSG00000205981 to ENSG00000205981 (gene set migration)
Fetal anomalies v2.0 DNAJB11 Gene migrated from ENSG00000090520 to ENSG00000090520 (gene set migration)
Fetal anomalies v2.0 DNAAF5 Gene migrated from ENSG00000164818 to ENSG00000164818 (gene set migration)
Fetal anomalies v2.0 DNAAF2 Gene migrated from ENSG00000165506 to ENSG00000165506 (gene set migration)
Fetal anomalies v2.0 IGF2 Gene migrated from ENSG00000167244 to ENSG00000167244 (gene set migration)
Fetal anomalies v2.0 DDX59 Gene migrated from ENSG00000118197 to ENSG00000118197 (gene set migration)
Fetal anomalies v2.0 CYP26B1 Gene migrated from ENSG00000003137 to ENSG00000003137 (gene set migration)
Fetal anomalies v2.0 CREB3L1 Gene migrated from ENSG00000157613 to ENSG00000157613 (gene set migration)
Fetal anomalies v2.0 CPAMD8 Gene migrated from ENSG00000160111 to ENSG00000160111 (gene set migration)
Fetal anomalies v2.0 IFT80 Gene migrated from ENSG00000068885 to ENSG00000068885 (gene set migration)
Fetal anomalies v2.0 COG6 Gene migrated from ENSG00000133103 to ENSG00000133103 (gene set migration)
Fetal anomalies v2.0 IFT43 Gene migrated from ENSG00000119650 to ENSG00000119650 (gene set migration)
Fetal anomalies v2.0 CLTC Gene migrated from ENSG00000141367 to ENSG00000141367 (gene set migration)
Fetal anomalies v2.0 CLMP Gene migrated from ENSG00000166250 to ENSG00000166250 (gene set migration)
Fetal anomalies v2.0 CLP1 Gene migrated from ENSG00000172409 to ENSG00000172409 (gene set migration)
Fetal anomalies v2.0 IFT122 Gene migrated from ENSG00000163913 to ENSG00000163913 (gene set migration)
Fetal anomalies v2.0 CHMP1A Gene migrated from ENSG00000131165 to ENSG00000131165 (gene set migration)
Fetal anomalies v2.0 CHRNA3 Gene migrated from ENSG00000080644 to ENSG00000080644 (gene set migration)
Fetal anomalies v2.0 IFITM5 Gene migrated from ENSG00000206013 to ENSG00000206013 (gene set migration)
Fetal anomalies v2.0 CEP135 Gene migrated from ENSG00000174799 to ENSG00000174799 (gene set migration)
Fetal anomalies v2.0 CEP55 Gene migrated from ENSG00000138180 to ENSG00000138180 (gene set migration)
Fetal anomalies v2.0 CENPF Gene migrated from ENSG00000117724 to ENSG00000117724 (gene set migration)
Fetal anomalies v2.0 IER3IP1 Gene migrated from ENSG00000134049 to ENSG00000134049 (gene set migration)
Fetal anomalies v2.0 CCDC88C Gene migrated from ENSG00000015133 to ENSG00000015133 (gene set migration)
Fetal anomalies v2.0 CCDC8 Gene migrated from ENSG00000169515 to ENSG00000169515 (gene set migration)
Fetal anomalies v2.0 CCDC22 Gene migrated from ENSG00000101997 to ENSG00000101997 (gene set migration)
Fetal anomalies v2.0 ODAD3 Gene symbol changed from CCDC151 to ODAD3 during gene set migration (ENSG00000198003 -> ENSG00000198003)
Fetal anomalies v2.0 CANT1 Gene migrated from ENSG00000171302 to ENSG00000171302 (gene set migration)
Fetal anomalies v2.0 CACNA1D Gene migrated from ENSG00000157388 to ENSG00000157388 (gene set migration)
Fetal anomalies v2.0 C2CD3 Gene migrated from ENSG00000168014 to ENSG00000168014 (gene set migration)
Fetal anomalies v2.0 PAPSS2 Gene migrated from ENSG00000198682 to ENSG00000198682 (gene set migration)
Fetal anomalies v2.0 C1QBP Gene migrated from ENSG00000108561 to ENSG00000108561 (gene set migration)
Fetal anomalies v2.0 C12orf57 Gene migrated from ENSG00000111678 to ENSG00000111678 (gene set migration)
Fetal anomalies v2.0 CFAP298 Gene symbol changed from C21orf59 to CFAP298 during gene set migration (ENSG00000159079 -> ENSG00000159079)
Fetal anomalies v2.0 B9D2 Gene migrated from ENSG00000123810 to ENSG00000123810 (gene set migration)
Fetal anomalies v2.0 PALB2 Gene migrated from ENSG00000083093 to ENSG00000083093 (gene set migration)
Fetal anomalies v2.0 B4GAT1 Gene migrated from ENSG00000174684 to ENSG00000174684 (gene set migration)
Fetal anomalies v2.0 ATR Gene migrated from ENSG00000175054 to ENSG00000175054 (gene set migration)
Fetal anomalies v2.0 B3GALNT2 Gene migrated from ENSG00000162885 to ENSG00000162885 (gene set migration)
Fetal anomalies v2.0 ATP1A2 Gene migrated from ENSG00000018625 to ENSG00000018625 (gene set migration)
Fetal anomalies v2.0 PAK3 Gene migrated from ENSG00000077264 to ENSG00000077264 (gene set migration)
Fetal anomalies v2.0 ASXL2 Gene migrated from ENSG00000143970 to ENSG00000143970 (gene set migration)
Fetal anomalies v2.0 ARID2 Gene migrated from ENSG00000189079 to ENSG00000189079 (gene set migration)
Fetal anomalies v2.0 PAFAH1B1 Gene migrated from ENSG00000007168 to ENSG00000007168 (gene set migration)
Fetal anomalies v2.0 AP4S1 Gene migrated from ENSG00000100478 to ENSG00000100478 (gene set migration)
Fetal anomalies v2.0 AP4M1 Gene migrated from ENSG00000221838 to ENSG00000221838 (gene set migration)
Fetal anomalies v2.0 ARFGEF2 Gene migrated from ENSG00000124198 to ENSG00000124198 (gene set migration)
Fetal anomalies v2.0 OTX2 Gene migrated from ENSG00000165588 to ENSG00000165588 (gene set migration)
Fetal anomalies v2.0 ANTXR2 Gene migrated from ENSG00000163297 to ENSG00000163297 (gene set migration)
Fetal anomalies v2.0 AMBRA1 Gene migrated from ENSG00000110497 to ENSG00000110497 (gene set migration)
Fetal anomalies v2.0 ALG9 Gene migrated from ENSG00000086848 to ENSG00000086848 (gene set migration)
Fetal anomalies v2.0 ORC6 Gene migrated from ENSG00000091651 to ENSG00000091651 (gene set migration)
Fetal anomalies v2.0 ORC1 Gene migrated from ENSG00000085840 to ENSG00000085840 (gene set migration)
Fetal anomalies v2.0 AKT2 Gene migrated from ENSG00000105221 to ENSG00000105221 (gene set migration)
Fetal anomalies v2.0 AIMP1 Gene migrated from ENSG00000164022 to ENSG00000164022 (gene set migration)
Fetal anomalies v2.0 AFF3 Gene migrated from ENSG00000144218 to ENSG00000144218 (gene set migration)
Fetal anomalies v2.0 ADAMTS3 Gene migrated from ENSG00000156140 to ENSG00000156140 (gene set migration)
Fetal anomalies v2.0 MED27 Gene migrated from ENSG00000160563 to ENSG00000160563 (gene set migration)
Fetal anomalies v2.0 ACVR1 Gene migrated from ENSG00000115170 to ENSG00000115170 (gene set migration)
Fetal anomalies v2.0 EXOSC9 Gene migrated from ENSG00000123737 to ENSG00000123737 (gene set migration)
Fetal anomalies v2.0 ZIC3 Gene migrated from ENSG00000156925 to ENSG00000156925 (gene set migration)
Fetal anomalies v2.0 ZMPSTE24 Gene migrated from ENSG00000084073 to ENSG00000084073 (gene set migration)
Fetal anomalies v2.0 ZIC2 Gene migrated from ENSG00000043355 to ENSG00000043355 (gene set migration)
Fetal anomalies v2.0 AARS1 Gene symbol changed from AARS to AARS1 during gene set migration (ENSG00000090861 -> ENSG00000090861)
Fetal anomalies v2.0 CWF19L1 Gene migrated from ENSG00000095485 to ENSG00000095485 (gene set migration)
Fetal anomalies v2.0 YY1 Gene migrated from ENSG00000100811 to ENSG00000100811 (gene set migration)
Fetal anomalies v2.0 ZBTB18 Gene migrated from ENSG00000179456 to ENSG00000179456 (gene set migration)
Fetal anomalies v2.0 ZEB2 Gene migrated from ENSG00000169554 to ENSG00000169554 (gene set migration)
Fetal anomalies v2.0 ZBTB20 Gene migrated from ENSG00000181722 to ENSG00000181722 (gene set migration)
Fetal anomalies v2.0 RBP4 Gene migrated from ENSG00000138207 to ENSG00000138207 (gene set migration)
Fetal anomalies v2.0 WNT5A Gene migrated from ENSG00000114251 to ENSG00000114251 (gene set migration)
Fetal anomalies v2.0 WNT7A Gene migrated from ENSG00000154764 to ENSG00000154764 (gene set migration)
Fetal anomalies v2.0 WT1 Gene migrated from ENSG00000184937 to ENSG00000184937 (gene set migration)
Fetal anomalies v2.0 XRCC4 Gene migrated from ENSG00000152422 to ENSG00000152422 (gene set migration)
Fetal anomalies v2.0 PRR12 Gene migrated from ENSG00000126464 to ENSG00000126464 (gene set migration)
Fetal anomalies v2.0 DYNC2I2 Gene symbol changed from WDR34 to DYNC2I2 during gene set migration (ENSG00000119333 -> ENSG00000119333)
Fetal anomalies v2.0 DYNC2I1 Gene symbol changed from WDR60 to DYNC2I1 during gene set migration (ENSG00000126870 -> ENSG00000126870)
Fetal anomalies v2.0 WDR35 Gene migrated from ENSG00000118965 to ENSG00000118965 (gene set migration)
Fetal anomalies v2.0 WDR62 Gene migrated from ENSG00000075702 to ENSG00000075702 (gene set migration)
Fetal anomalies v2.0 EXOSC8 Gene migrated from ENSG00000120699 to ENSG00000120699 (gene set migration)
Fetal anomalies v2.0 VSX2 Gene migrated from ENSG00000119614 to ENSG00000119614 (gene set migration)
Fetal anomalies v2.0 MAB21L1 Gene migrated from ENSG00000180660 to ENSG00000180660 (gene set migration)
Fetal anomalies v2.0 WDPCP Gene migrated from ENSG00000143951 to ENSG00000143951 (gene set migration)
Fetal anomalies v2.0 UMPS Gene migrated from ENSG00000114491 to ENSG00000114491 (gene set migration)
Fetal anomalies v2.0 VIPAS39 Gene migrated from ENSG00000151445 to ENSG00000151445 (gene set migration)
Fetal anomalies v2.0 VLDLR Gene migrated from ENSG00000147852 to ENSG00000147852 (gene set migration)
Fetal anomalies v2.0 FLVCR2 Gene migrated from ENSG00000119686 to ENSG00000119686 (gene set migration)
Fetal anomalies v2.0 UBA1 Gene migrated from ENSG00000130985 to ENSG00000130985 (gene set migration)
Fetal anomalies v2.0 TWIST2 Gene migrated from ENSG00000233608 to ENSG00000233608 (gene set migration)
Fetal anomalies v2.0 TXNL4A Gene migrated from ENSG00000141759 to ENSG00000141759 (gene set migration)
Fetal anomalies v2.0 UBE3B Gene migrated from ENSG00000151148 to ENSG00000151148 (gene set migration)
Fetal anomalies v2.0 UBR1 Gene migrated from ENSG00000159459 to ENSG00000159459 (gene set migration)
Fetal anomalies v2.0 FBXW11 Gene migrated from ENSG00000072803 to ENSG00000072803 (gene set migration)
Fetal anomalies v2.0 TUBB4A Gene migrated from ENSG00000104833 to ENSG00000104833 (gene set migration)
Fetal anomalies v2.0 TUBGCP6 Gene migrated from ENSG00000128159 to ENSG00000128159 (gene set migration)
Fetal anomalies v2.0 FLT4 Gene migrated from ENSG00000037280 to ENSG00000037280 (gene set migration)
Fetal anomalies v2.0 TUBB2B Gene migrated from ENSG00000137285 to ENSG00000137285 (gene set migration)
Fetal anomalies v2.0 EXOSC5 Gene migrated from ENSG00000077348 to ENSG00000077348 (gene set migration)
Fetal anomalies v2.0 FKBP10 Gene migrated from ENSG00000141756 to ENSG00000141756 (gene set migration)
Fetal anomalies v2.0 TRAPPC9 Gene migrated from ENSG00000167632 to ENSG00000167632 (gene set migration)
Fetal anomalies v2.0 WNT1 Gene migrated from ENSG00000125084 to ENSG00000125084 (gene set migration)
Fetal anomalies v2.0 TRIP11 Gene migrated from ENSG00000100815 to ENSG00000100815 (gene set migration)
Fetal anomalies v2.0 TREX1 Gene migrated from ENSG00000213689 to ENSG00000213689 (gene set migration)
Fetal anomalies v2.0 NID1 Gene migrated from ENSG00000116962 to ENSG00000116962 (gene set migration)
Fetal anomalies v2.0 TPM2 Gene migrated from ENSG00000198467 to ENSG00000198467 (gene set migration)
Fetal anomalies v2.0 FKRP Gene migrated from ENSG00000181027 to ENSG00000181027 (gene set migration)
Fetal anomalies v2.0 TNNT1 Gene migrated from ENSG00000105048 to ENSG00000105048 (gene set migration)
Fetal anomalies v2.0 DYNC1I1 Gene migrated from ENSG00000158560 to ENSG00000158560 (gene set migration)
Fetal anomalies v2.0 IFT74 Gene migrated from ENSG00000096872 to ENSG00000096872 (gene set migration)
Fetal anomalies v2.0 TMEM138 Gene migrated from ENSG00000149483 to ENSG00000149483 (gene set migration)
Fetal anomalies v2.0 TINF2 Gene migrated from ENSG00000092330 to ENSG00000092330 (gene set migration)
Fetal anomalies v2.0 TMCO1 Gene migrated from ENSG00000143183 to ENSG00000143183 (gene set migration)
Fetal anomalies v2.0 FH Gene migrated from ENSG00000091483 to ENSG00000091483 (gene set migration)
Fetal anomalies v2.0 BRF1 Gene migrated from ENSG00000185024 to ENSG00000185024 (gene set migration)
Fetal anomalies v2.0 TGIF1 Gene migrated from ENSG00000177426 to ENSG00000177426 (gene set migration)
Fetal anomalies v2.0 THRA Gene migrated from ENSG00000126351 to ENSG00000126351 (gene set migration)
Fetal anomalies v2.0 FGFR2 Gene migrated from ENSG00000066468 to ENSG00000066468 (gene set migration)
Fetal anomalies v2.0 TGFB3 Gene migrated from ENSG00000119699 to ENSG00000119699 (gene set migration)
Fetal anomalies v2.0 MTX2 Gene migrated from ENSG00000128654 to ENSG00000128654 (gene set migration)
Fetal anomalies v2.0 TCIRG1 Gene migrated from ENSG00000110719 to ENSG00000110719 (gene set migration)
Fetal anomalies v2.0 TCTN3 Gene migrated from ENSG00000119977 to ENSG00000119977 (gene set migration)
Fetal anomalies v2.0 TBX6 Gene migrated from ENSG00000149922 to ENSG00000149922 (gene set migration)
Fetal anomalies v2.0 FGF3 Gene migrated from ENSG00000186895 to ENSG00000186895 (gene set migration)
Fetal anomalies v2.0 TBX1 Gene migrated from ENSG00000184058 to ENSG00000184058 (gene set migration)
Fetal anomalies v2.0 TBX15 Gene migrated from ENSG00000092607 to ENSG00000092607 (gene set migration)
Fetal anomalies v2.0 TBX18 Gene migrated from ENSG00000112837 to ENSG00000112837 (gene set migration)
Fetal anomalies v2.0 TBX20 Gene migrated from ENSG00000164532 to ENSG00000164532 (gene set migration)
Fetal anomalies v2.0 FGF10 Gene migrated from ENSG00000070193 to ENSG00000070193 (gene set migration)
Fetal anomalies v2.0 TBC1D20 Gene migrated from ENSG00000125875 to ENSG00000125875 (gene set migration)
Fetal anomalies v2.0 TBCD Gene migrated from ENSG00000141556 to ENSG00000141556 (gene set migration)
Fetal anomalies v2.0 TBC1D24 Gene migrated from ENSG00000162065 to ENSG00000162065 (gene set migration)
Fetal anomalies v2.0 TALDO1 Gene migrated from ENSG00000177156 to ENSG00000177156 (gene set migration)
Fetal anomalies v2.0 TAB2 Gene migrated from ENSG00000055208 to ENSG00000055208 (gene set migration)
Fetal anomalies v2.0 FAM149B1 Gene migrated from ENSG00000138286 to ENSG00000138286 (gene set migration)
Fetal anomalies v2.0 STAMBP Gene migrated from ENSG00000124356 to ENSG00000124356 (gene set migration)
Fetal anomalies v2.0 STAR Gene migrated from ENSG00000147465 to ENSG00000147465 (gene set migration)
Fetal anomalies v2.0 FBN2 Gene migrated from ENSG00000138829 to ENSG00000138829 (gene set migration)
Fetal anomalies v2.0 SRY Gene migrated from ENSG00000184895 to ENSG00000184895 (gene set migration)
Fetal anomalies v2.0 SPAG1 Gene migrated from ENSG00000104450 to ENSG00000104450 (gene set migration)
Fetal anomalies v2.0 SPEG Gene migrated from ENSG00000072195 to ENSG00000072195 (gene set migration)
Fetal anomalies v2.0 SON Gene migrated from ENSG00000159140 to ENSG00000159140 (gene set migration)
Fetal anomalies v2.0 SOS1 Gene migrated from ENSG00000115904 to ENSG00000115904 (gene set migration)
Fetal anomalies v2.0 SOS2 Gene migrated from ENSG00000100485 to ENSG00000100485 (gene set migration)
Fetal anomalies v2.0 SOST Gene migrated from ENSG00000167941 to ENSG00000167941 (gene set migration)
Fetal anomalies v2.0 FBLN5 Gene migrated from ENSG00000140092 to ENSG00000140092 (gene set migration)
Fetal anomalies v2.0 NCAPD2 Gene migrated from ENSG00000010292 to ENSG00000010292 (gene set migration)
Fetal anomalies v2.0 SNORD118 Gene migrated from ENSG00000200463 to ENSG00000200463 (gene set migration)
Fetal anomalies v2.0 SMOC1 Gene migrated from ENSG00000198732 to ENSG00000198732 (gene set migration)
Fetal anomalies v2.0 SMPD1 Gene migrated from ENSG00000166311 to ENSG00000166311 (gene set migration)
Fetal anomalies v2.0 SNRPB Gene migrated from ENSG00000125835 to ENSG00000125835 (gene set migration)
Fetal anomalies v2.0 FAR1 Gene migrated from ENSG00000197601 to ENSG00000197601 (gene set migration)
Fetal anomalies v2.0 SMAD4 Gene migrated from ENSG00000141646 to ENSG00000141646 (gene set migration)
Fetal anomalies v2.0 FANCG Gene migrated from ENSG00000221829 to ENSG00000221829 (gene set migration)
Fetal anomalies v2.0 SMARCA4 Gene migrated from ENSG00000127616 to ENSG00000127616 (gene set migration)
Fetal anomalies v2.0 SLC35A2 Gene migrated from ENSG00000102100 to ENSG00000102100 (gene set migration)
Fetal anomalies v2.0 SLC26A2 Gene migrated from ENSG00000155850 to ENSG00000155850 (gene set migration)
Fetal anomalies v2.0 FANCE Gene migrated from ENSG00000112039 to ENSG00000112039 (gene set migration)
Fetal anomalies v2.0 NUP188 Gene migrated from ENSG00000095319 to ENSG00000095319 (gene set migration)
Fetal anomalies v2.0 SLC25A24 Gene migrated from ENSG00000085491 to ENSG00000085491 (gene set migration)
Fetal anomalies v2.0 SLC26A3 Gene migrated from ENSG00000091138 to ENSG00000091138 (gene set migration)
Fetal anomalies v2.0 SLC12A1 Gene migrated from ENSG00000074803 to ENSG00000074803 (gene set migration)
Fetal anomalies v2.0 SLC13A5 Gene migrated from ENSG00000141485 to ENSG00000141485 (gene set migration)
Fetal anomalies v2.0 SLC12A6 Gene migrated from ENSG00000140199 to ENSG00000140199 (gene set migration)
Fetal anomalies v2.0 FANCC Gene migrated from ENSG00000158169 to ENSG00000158169 (gene set migration)
Fetal anomalies v2.0 SF3B4 Gene migrated from ENSG00000143368 to ENSG00000143368 (gene set migration)
Fetal anomalies v2.0 SETBP1 Gene migrated from ENSG00000152217 to ENSG00000152217 (gene set migration)
Fetal anomalies v2.0 FANCA Gene migrated from ENSG00000187741 to ENSG00000187741 (gene set migration)
Fetal anomalies v2.0 SEPSECS Gene migrated from ENSG00000109618 to ENSG00000109618 (gene set migration)
Fetal anomalies v2.0 SCO2 Gene migrated from ENSG00000130489 to ENSG00000284194 (gene set migration)
Fetal anomalies v2.0 SCN2A Gene migrated from ENSG00000136531 to ENSG00000136531 (gene set migration)
Fetal anomalies v2.0 PTPN23 Gene migrated from ENSG00000076201 to ENSG00000076201 (gene set migration)
Fetal anomalies v2.0 SAMD9 Gene migrated from ENSG00000205413 to ENSG00000205413 (gene set migration)
Fetal anomalies v2.0 SALL1 Gene migrated from ENSG00000103449 to ENSG00000103449 (gene set migration)
Fetal anomalies v2.0 SALL4 Gene migrated from ENSG00000101115 to ENSG00000101115 (gene set migration)
Fetal anomalies v2.0 RUNX2 Gene migrated from ENSG00000124813 to ENSG00000124813 (gene set migration)
Fetal anomalies v2.0 RTEL1 Gene migrated from ENSG00000258366 to ENSG00000258366 (gene set migration)
Fetal anomalies v2.0 RPS6KA3 Gene migrated from ENSG00000177189 to ENSG00000177189 (gene set migration)
Fetal anomalies v2.0 DCC Gene migrated from ENSG00000187323 to ENSG00000187323 (gene set migration)
Fetal anomalies v2.0 ROR2 Gene migrated from ENSG00000169071 to ENSG00000169071 (gene set migration)
Fetal anomalies v2.0 RET Gene migrated from ENSG00000165731 to ENSG00000165731 (gene set migration)
Fetal anomalies v2.0 RIPK4 Gene migrated from ENSG00000183421 to ENSG00000183421 (gene set migration)
Fetal anomalies v2.0 RFX6 Gene migrated from ENSG00000185002 to ENSG00000185002 (gene set migration)
Fetal anomalies v2.0 RELN Gene migrated from ENSG00000189056 to ENSG00000189056 (gene set migration)
Fetal anomalies v2.0 RECQL4 Gene migrated from ENSG00000160957 to ENSG00000160957 (gene set migration)
Fetal anomalies v2.0 NKX2-6 Gene migrated from ENSG00000180053 to ENSG00000180053 (gene set migration)
Fetal anomalies v2.0 RAD21 Gene migrated from ENSG00000164754 to ENSG00000164754 (gene set migration)
Fetal anomalies v2.0 RAI1 Gene migrated from ENSG00000108557 to ENSG00000108557 (gene set migration)
Fetal anomalies v2.0 ZFP57 Gene migrated from ENSG00000204644 to ENSG00000204644 (gene set migration)
Fetal anomalies v2.0 PTPN11 Gene migrated from ENSG00000179295 to ENSG00000179295 (gene set migration)
Fetal anomalies v2.0 PTH1R Gene migrated from ENSG00000160801 to ENSG00000160801 (gene set migration)
Fetal anomalies v2.0 ALDH1A2 Gene migrated from ENSG00000128918 to ENSG00000128918 (gene set migration)
Fetal anomalies v2.0 PTF1A Gene migrated from ENSG00000168267 to ENSG00000168267 (gene set migration)
Fetal anomalies v2.0 PRKAR1A Gene migrated from ENSG00000108946 to ENSG00000108946 (gene set migration)
Fetal anomalies v2.0 PRKD1 Gene migrated from ENSG00000184304 to ENSG00000184304 (gene set migration)
Fetal anomalies v2.0 CDKL5 Gene migrated from ENSG00000008086 to ENSG00000008086 (gene set migration)
Fetal anomalies v2.0 ITGAV Gene migrated from ENSG00000138448 to ENSG00000138448 (gene set migration)
Fetal anomalies v2.0 ANKRD17 Gene migrated from ENSG00000132466 to ENSG00000132466 (gene set migration)
Fetal anomalies v2.0 PPP1R12A Gene migrated from ENSG00000058272 to ENSG00000058272 (gene set migration)
Fetal anomalies v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.588
Fetal anomalies v1.588 CLUAP1 Sarah Milton changed review comment from: CLUAP1 encodes Clusterin-associated protein 1 which localizes to the base and tip of cilia and associates with the intraflagellar transport (IFT) complex B group of proteins.

Leber congenital amaurosis (LCA)
PMID: 26820066 and 34209753 report biallelic variants in CLUAP1 in individuals with Leber congenital amaurosis including severe visual dysfunction from birth and nystagmus.
Missense and splice variants were reported with functional studies to support a deleterious nature (Cell models/Zebrafish transfection and minigene splice assays). Other causative LCA genes are known to be involved in intraflagellar transport.
Biallelic zebrafish and mouse result in lethality in utero, zebrafish embryos at 5 days post fertilisation demonstrate lack of photoreceptor cells.
Amber for this association.

Ciliopathy
PMID 28679688 reports one individual with biallelic variants in CLUAP1 with a syndromic phenotype reminiscent of Joubert/orofaciodigital syndrome including dysmorphic features, rhizomelic limb shortening, polydactyly, molar tooth sign, midline teeth, oculomotor apraxia. One missense and one nonsense variant were noted with functional studies to support the deleterious nature.
Red for this association.

It is plausible the LCA and ciliopathy phenotypes are a spectrum of disease however there is insufficient evidence to indicate this currently.
Sources: Literature; to: CLUAP1 encodes Clusterin-associated protein 1 which localizes to the base and tip of cilia and associates with the intraflagellar transport (IFT) complex B group of proteins.

Leber congenital amaurosis (LCA)
PMID: 26820066 and 34209753 report biallelic variants in CLUAP1 in 2 individuals with Leber congenital amaurosis including severe visual dysfunction from birth and nystagmus.
Missense and splice variants were reported with functional studies to support a deleterious nature (Cell models/Zebrafish transfection and minigene splice assays). Other causative LCA genes are known to be involved in intraflagellar transport.
Biallelic zebrafish and mouse result in lethality in utero, zebrafish embryos at 5 days post fertilisation demonstrate lack of photoreceptor cells.
Amber for this association.

Ciliopathy
PMID 28679688 reports one individual with biallelic variants in CLUAP1 with a syndromic phenotype reminiscent of Joubert/orofaciodigital syndrome including dysmorphic features, rhizomelic limb shortening, polydactyly, molar tooth sign, midline teeth, oculomotor apraxia. One missense and one nonsense variant were noted with functional studies to support the deleterious nature.
Red for this association.

It is plausible the LCA and ciliopathy phenotypes are a spectrum of disease however there is insufficient evidence to indicate this currently.
Sources: Literature
Fetal anomalies v1.588 Sarah Milton Copied gene CLUAP1 from panel Ciliopathies
Fetal anomalies v1.588 CLUAP1 Sarah Milton gene: CLUAP1 was added
gene: CLUAP1 was added to Fetal anomalies. Sources: Expert Review Red,Literature,Literature
Mode of inheritance for gene: CLUAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLUAP1 were set to 34209753; 28679688; 26820066
Phenotypes for gene: CLUAP1 were set to Leber congenital amaurosis, MONDO:0018998, CLUAP1-related; Ciliopathy, MONDO:0005308, CLUAP1-related
Fetal anomalies v1.587 PLAT Zornitza Stark Marked gene: PLAT as ready
Fetal anomalies v1.587 PLAT Zornitza Stark Gene: plat has been classified as Green List (High Evidence).
Fetal anomalies v1.587 PLAT Zornitza Stark Phenotypes for gene: PLAT were changed from Syndromic disease, MONDO:0002254, PLAT-related; Thrombophilia, familial, due to decreased release of tissue plasminogen activator MONDO:0012872 to Syndromic disease, MONDO:0002254, PLAT-related
Fetal anomalies v1.586 PLAT Zornitza Stark Tag disputed was removed from gene: PLAT.
Fetal anomalies v1.586 Zornitza Stark Copied gene PLAT from panel Mendeliome
Fetal anomalies v1.586 PLAT Zornitza Stark gene: PLAT was added
gene: PLAT was added to Fetal anomalies. Sources: Expert Review Green,ClinGen,ClinGen
disputed tags were added to gene: PLAT.
Mode of inheritance for gene: PLAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLAT were set to 39574431; 37808270; 27417437
Phenotypes for gene: PLAT were set to Syndromic disease, MONDO:0002254, PLAT-related; Thrombophilia, familial, due to decreased release of tissue plasminogen activator MONDO:0012872
Fetal anomalies v1.585 MAB21L1 Zornitza Stark Phenotypes for gene: MAB21L1 were changed from Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479 to Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479; Microphthalmia MONDO:0021129, MAB21L1-related
Fetal anomalies v1.584 MAB21L1 Zornitza Stark Publications for gene: MAB21L1 were set to 30487245
Fetal anomalies v1.583 MAB21L1 Zornitza Stark Mode of inheritance for gene: MAB21L1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.582 MAB21L1 Zornitza Stark edited their review of gene: MAB21L1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.582 MAB21L1 Zornitza Stark edited their review of gene: MAB21L1: Added comment: PMID:33973683 (2021) reported a heterozygous novel variant in MAB21L1 gene (c.152G>T/ p.Arg51Leu), in two family members with microphthalmia and aniridia, as well as novel or rare compound heterozygous variants of uncertain significance (c.184C>T/ p.Arg62Cys; c.-68T>C and c.658G>C/ p.Gly220Arg; c.*529A>G) in two additional probands with microphthalmia, coloboma and/or cataracts. There is also function evidence available from in vitro studies of coding variants and in vivo complementation assays using the zebrafish mab21l2 Q48Sfs*5 loss-of-function line.

PMID:36413568 (2022) reported nine patients from five families with severe aniridia and/or microphthalmia with ultrarare monoallelic missense variants altering the Arg51 codon of MAB21L1. The detected variants are c.152G>A/ p.Arg51Gln, c.152G>T/ p.Arg51Leu, c.152G>C/ p.Arg51Pro and c.155T>G/ p.Phe52Cys. Mice engineered to carry the p.Arg51Leu change showed a highly-penetrant optic disc anomaly in heterozygous animals with severe microphthalmia in homozygotes.

PMID:36446583 (2023) reported the identification of a novel missense variant (p.Phe52Leu) in a three-generation pedigree with autosomal dominant microphthalmia.

PMID:36892533 (2023) reported the identification of three heterozygous missense variants in MAB21L1 gene in five unrelated families, including c.152G>T/ p.Arg51Leu in two, c.152G>A/ p.Arg51Gln in two, and c.155T>G/ p.Phe52Cys in one. All patients presented with similar blepharophimosis plus anterior segment and macular dysgenesis (BAMD) phenotype.

PMID:39016008 (2024) reported an additional family with four individuals diagnosed with microphthalmia and with Arg51 variant in MAB21L1 gene.; Changed publications: 30487245, 39016008, 36892533, 36446583, 36413568; Changed phenotypes: Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479, Microphthalmia MONDO:0021129, MAB21L1-related
Fetal anomalies v1.582 Zornitza Stark Added reviews for gene MAB21L1 from panel Mendeliome
Fetal anomalies v1.581 Chirag Patel Added reviews for gene RASA2 from panel Mendeliome
Fetal anomalies v1.580 TNXB Zornitza Stark Phenotypes for gene: TNXB were changed from Vesicoureteral reflux 8 615963; Ehlers-Danlos syndrome due to tenascin X deficiency 606408 to Vesicoureteral reflux 8 615963
Fetal anomalies v1.579 TNXB Zornitza Stark Publications for gene: TNXB were set to 19921645; 28306229; 28306225; 23620400
Fetal anomalies v1.578 TNXB Zornitza Stark Classified gene: TNXB as Amber List (moderate evidence)
Fetal anomalies v1.578 TNXB Zornitza Stark Gene: tnxb has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.577 TNXB Zornitza Stark edited their review of gene: TNXB: Added comment: PMID 26408188: 6 additional individuals from 3 families with rare missense variants. De novo in one family. PMID 34059960: 3 unrelated individuals, two with LoF variants, one with missense, identified in a large cohort. PMID 36995132: five individuals, again from a large cohort presenting with obstructive uropathy, three with LoF variant and one with missense; 5th individual compound het for LoF variants.

PMID 38370350: single compound het individual reported.

MODERATE by ClinGen. Lack of segregation and other experimental data to support association, most of the data comes from observations in large cohorts of individuals with VUR/obstructive uropathy.; Changed rating: AMBER; Changed publications: 26408188, 34059960, 36995132, 38370350
Fetal anomalies v1.577 DLX5 downstream regulatory region Sarah Milton Classified Region: DLX5 downstream regulatory region as Green List (high evidence)
Fetal anomalies v1.577 DLX5 downstream regulatory region Sarah Milton Region: dlx5 downstream regulatory region has been classified as Green List (High Evidence).
Fetal anomalies v1.576 Zornitza Stark removed gene:NME8 from the panel
Fetal anomalies v1.575 EMG1 Zornitza Stark Publications for gene: EMG1 were set to 19463982
Fetal anomalies v1.574 EMG1 Zornitza Stark edited their review of gene: EMG1: Added comment: Affected individuals present with severe developmental delay, microcephaly, growth failure, micrognathia, joint contractures and early death. Functional studies show loss‑of‑function through protein destabilisation, reduced EMG1 levels, binucleate fibroblasts, G2/M arrest, impaired 18S rRNA processing and recapitulation of the phenotype in a mouse knock‑in model.

GDA to remain as AMBER as the same founder variant in the Hutterite population has been reported in the additional PMIDs and could potentially be the same families. Further reports would be required to upgrade to Green.; Changed publications: 19463982, 27798105, 26676230, 25708872
Fetal anomalies v1.574 TOMM7 Zornitza Stark Marked gene: TOMM7 as ready
Fetal anomalies v1.574 TOMM7 Zornitza Stark Gene: tomm7 has been classified as Green List (High Evidence).
Fetal anomalies v1.574 TOMM7 Zornitza Stark Publications for gene: TOMM7 were set to 36299998; 36282599
Fetal anomalies v1.573 TOMM7 Zornitza Stark Classified gene: TOMM7 as Green List (high evidence)
Fetal anomalies v1.573 TOMM7 Zornitza Stark Gene: tomm7 has been classified as Green List (High Evidence).
Fetal anomalies v1.572 HAND1 Zornitza Stark Publications for gene: HAND1 were set to 31286141; 29016838; 29317578; 29179274; 28112363; 27942761; 26581070
Fetal anomalies v1.571 HAND1 Zornitza Stark Classified gene: HAND1 as Green List (high evidence)
Fetal anomalies v1.571 HAND1 Zornitza Stark Gene: hand1 has been classified as Green List (High Evidence).
Fetal anomalies v1.570 HAND1 Zornitza Stark reviewed gene: HAND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39537763, 39107573, 38551686; Phenotypes: congenital heart disease, MONDO:0005453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.570 RNU4-2 Zornitza Stark Marked gene: RNU4-2 as ready
Fetal anomalies v1.570 RNU4-2 Zornitza Stark Gene: rnu4-2 has been classified as Green List (High Evidence).
Fetal anomalies v1.570 RNU4-2 Zornitza Stark Phenotypes for gene: RNU4-2 were changed from ReNU syndrome (MIM# 620851), AD to ReNU syndrome (MIM# 620851)
Fetal anomalies v1.569 RNU4-2 Zornitza Stark Classified gene: RNU4-2 as Green List (high evidence)
Fetal anomalies v1.569 RNU4-2 Zornitza Stark Gene: rnu4-2 has been classified as Green List (High Evidence).
Fetal anomalies v1.568 Zornitza Stark Copied gene WDHD1 from panel Mendeliome
Fetal anomalies v1.568 WDHD1 Zornitza Stark gene: WDHD1 was added
gene: WDHD1 was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: WDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDHD1 were set to 41962535
Phenotypes for gene: WDHD1 were set to microcephalic osteodysplastic primordial dwarfism, MONDO:0000060
Fetal anomalies v1.567 GNPNAT1 Zornitza Stark Publications for gene: GNPNAT1 were set to 36097642; 35427807; 32591345
Fetal anomalies v1.566 GNPNAT1 Zornitza Stark Classified gene: GNPNAT1 as Green List (high evidence)
Fetal anomalies v1.566 GNPNAT1 Zornitza Stark Gene: gnpnat1 has been classified as Green List (High Evidence).
Fetal anomalies v1.565 Zornitza Stark Added reviews for gene GNPNAT1 from panel Skeletal dysplasia
Fetal anomalies v1.564 FRMD4A Zornitza Stark Marked gene: FRMD4A as ready
Fetal anomalies v1.564 FRMD4A Zornitza Stark Added comment: Comment when marking as ready: Note discrepancy in head size and predominance of missense variants, hence retain Amber rating.
Fetal anomalies v1.564 FRMD4A Zornitza Stark Gene: frmd4a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.564 FRMD4A Zornitza Stark Publications for gene: FRMD4A were set to 30266093; 25388005; 30214071
Fetal anomalies v1.563 Zornitza Stark Added reviews for gene FRMD4A from panel Mendeliome
Fetal anomalies v1.562 FAM92A Zornitza Stark Publications for gene: FAM92A were set to 30395363
Fetal anomalies v1.561 FAM92A Zornitza Stark Classified gene: FAM92A as Green List (high evidence)
Fetal anomalies v1.561 FAM92A Zornitza Stark Gene: fam92a has been classified as Green List (High Evidence).
Fetal anomalies v1.560 Zornitza Stark Added reviews for gene FAM92A from panel Mendeliome
Fetal anomalies v1.559 PAK2 Elena Savva gene: PAK2 was added
gene: PAK2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PAK2 were set to PMID: 39994693
Phenotypes for gene: PAK2 were set to ?Knobloch syndrome 2 MIM#618458
Review for gene: PAK2 was set to AMBER
Added comment: Domenach (2025): bilateral pleural effusion/chylothorax in a fetus at 24 weeks. Lit review notes an additional 2/5 probands with pleural effusion (1 also having chylothorax)
Sources: Literature
Fetal anomalies v1.558 RNU4-2 Ee Ming Wong changed review comment from: Monoallelic association - PMID 39830270: Reports 36 individuals from 13 unrelated families with heterozygous dominant variants n.18_19insA and n.56T>C in RNU4-2 presenting with autosomal dominant retinitis pigmentosa (adRP). Night‑blindness and progressive peripheral vision loss start in late adolescence/early adulthood, with classic RP fundus changes, cystoid macular edema, and cataracts. Both inherited and de novo cases are observed. Immunoprecipitation assays demonstrate increased association of mutant U4 snRNA with di‑snRNP proteins SART3 and PRPF31, indicating a gain‑of‑function/dominant‑negative effect on snRNP biogenesis. PREPRINT

Biallelic association - PMID 40297424: preprint reporting 16 individuals from 10 families with balletic variants and presenting with global developmental delay, intellectual disability, speech delay or absence, hypotonia, spasticity, microcephaly, ophthalmologic and visual impairment, seizures, and variable genital, skin, hair and limb anomalies; brain MRI shows distinctive white‑matter abnormalities and cerebellar atrophy.

Disease mechanism not established as yet.
Sources: Literature; to: PMID 39830270: Reports 36 individuals from 13 unrelated families with heterozygous dominant variants n.18_19insA and n.56T>C in RNU4-2 presenting with autosomal dominant retinitis pigmentosa (adRP). Night‑blindness and progressive peripheral vision loss start in late adolescence/early adulthood, with classic RP fundus changes, cystoid macular edema, and cataracts. Both inherited and de novo cases are observed. Immunoprecipitation assays demonstrate increased association of mutant U4 snRNA with di‑snRNP proteins SART3 and PRPF31, indicating a gain‑of‑function/dominant‑negative effect on snRNP biogenesis. PREPRINT

PMID 40297424: preprint reporting 16 individuals from 10 families with balletic variants and presenting with global developmental delay, intellectual disability, speech delay or absence, hypotonia, spasticity, microcephaly, ophthalmologic and visual impairment, seizures, and variable genital, skin, hair and limb anomalies; brain MRI shows distinctive white‑matter abnormalities and cerebellar atrophy.

Disease mechanism not established as yet.
Sources: Literature
Fetal anomalies v1.558 RNU4-2 Ee Ming Wong gene: RNU4-2 was added
gene: RNU4-2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RNU4-2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RNU4-2 were set to 38991538; 40297424; 39830270; 39423747
Phenotypes for gene: RNU4-2 were set to ReNU syndrome (MIM# 620851), AD
Mode of pathogenicity for gene: RNU4-2 was set to Other
Review for gene: RNU4-2 was set to GREEN
gene: RNU4-2 was marked as current diagnostic
Added comment: Monoallelic association - PMID 39830270: Reports 36 individuals from 13 unrelated families with heterozygous dominant variants n.18_19insA and n.56T>C in RNU4-2 presenting with autosomal dominant retinitis pigmentosa (adRP). Night‑blindness and progressive peripheral vision loss start in late adolescence/early adulthood, with classic RP fundus changes, cystoid macular edema, and cataracts. Both inherited and de novo cases are observed. Immunoprecipitation assays demonstrate increased association of mutant U4 snRNA with di‑snRNP proteins SART3 and PRPF31, indicating a gain‑of‑function/dominant‑negative effect on snRNP biogenesis. PREPRINT

Biallelic association - PMID 40297424: preprint reporting 16 individuals from 10 families with balletic variants and presenting with global developmental delay, intellectual disability, speech delay or absence, hypotonia, spasticity, microcephaly, ophthalmologic and visual impairment, seizures, and variable genital, skin, hair and limb anomalies; brain MRI shows distinctive white‑matter abnormalities and cerebellar atrophy.

Disease mechanism not established as yet.
Sources: Literature
Fetal anomalies v1.558 DLX5 downstream regulatory region Sarah Milton GRCh38 position for DLX5 downstream regulatory region was changed from 95772554-96098424 to 96075000-96100000.
Fetal anomalies v1.557 DLX5 downstream regulatory region Sarah Milton changed review comment from: DLX5 encodes a transcription factor essential for epidermal morphogenesis and limb development. Expression is known to be regulated by p63 (encoded for by TP63).

Over 20 families have been reported with deletions or translocations involving a region downstream from DLX5 with split-hand foot malformation with incomplete penetrance.
Deletions are highly variable in size ranging from 17kb to megabase in size.

The region deleted is located within the protein coding gene DYNC1I1. However haploinsufficiency of this gene is not thought to be the mechanism of disease . It has been demonstrated enhancer elements that regulate expression of DLX5 are located within exons 14-17 of DYNC1I1 with individuals with balanced translocations disrupting the region also having a similar phenotype.

Note: coordinates used for this entry are that of the refseq for DYNC1I1, much larger or smaller deletions or disruption to the region from translocations/inversions may still be causative of disease.
Sources: Literature; to: DLX5 encodes a transcription factor essential for epidermal morphogenesis and limb development. Expression is known to be regulated by p63 (encoded for by TP63).

Over 20 families have been reported with deletions or translocations involving a region downstream from DLX5 with split-hand foot malformation with incomplete penetrance.
Deletions are highly variable in size ranging from 17kb to megabase in size.

The region deleted is located within the protein coding gene DYNC1I1. However haploinsufficiency of this gene is not thought to be the mechanism of disease . It has been demonstrated enhancer elements that regulate expression of DLX5 are located within exons 14-17 of DYNC1I1 with individuals with balanced translocations disrupting the region also having a similar phenotype.

Note: coordinates used for this entry encompass exons 14 to 17 of DYNC1I1, much larger deletions or disruption to the region from translocations/inversions may still be causative of disease
Sources: Literature
Fetal anomalies v1.557 Sarah Milton Copied Region DLX5 downstream regulatory region from panel Mendeliome
Fetal anomalies v1.557 DLX5 downstream regulatory region Sarah Milton Region: DLX5 downstream regulatory region was added
Region: DLX5 downstream regulatory region was added to Fetal anomalies. Sources: Literature
regulatory region tags were added to Region: DLX5 downstream regulatory region.
Mode of inheritance for Region: DLX5 downstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: DLX5 downstream regulatory region were set to PMID: 26839112; 37916192; 26075025; 24459211
Phenotypes for Region: DLX5 downstream regulatory region were set to Split-hand/foot malformation 1 MIM#183600
Penetrance for Region: DLX5 downstream regulatory region were set to Incomplete
Fetal anomalies v1.556 DONSON Zornitza Stark edited their review of gene: DONSON: Changed phenotypes: Microcephaly, short stature, and limb abnormalities, MIM# 617604, Microcephaly-micromelia syndrome, MIM# 251230, MONDO:0009619, Meier-Gorlin syndrome 10, MIM# 621528
Fetal anomalies v1.556 NKX2-1 Chirag Patel Mode of inheritance for gene: NKX2-1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.555 WSB2 Zornitza Stark Phenotypes for gene: WSB2 were changed from Complex neurodevelopmental disorder, MONDO:0100038, WSB2-related to Luo-Agrawal neurodevelopmental syndrome, MIM# 621552
Fetal anomalies v1.554 WSB2 Zornitza Stark reviewed gene: WSB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Luo-Agrawal neurodevelopmental syndrome, MIM# 621552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.554 MYH6 Zornitza Stark Phenotypes for gene: MYH6 were changed from Atrial septal defect 3 (MIM#614089) to Atrial septal defect 3 (MIM#614089); MYH-6 related congenital heart defects MONDO:0800442
Fetal anomalies v1.553 MYH6 Zornitza Stark Publications for gene: MYH6 were set to 20656787; 29969989; 15735645
Fetal anomalies v1.552 MYH6 Zornitza Stark Mode of inheritance for gene: MYH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.551 MYH6 Zornitza Stark reviewed gene: MYH6: Rating: GREEN; Mode of pathogenicity: None; Publications: 28991257; Phenotypes: MYH-6 related congenital heart defects MONDO:0800442; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.551 KIF22 Zornitza Stark Publications for gene: KIF22 were set to 25256152; 22152677; 22152678
Fetal anomalies v1.550 KIF22 Zornitza Stark Mode of inheritance for gene: KIF22 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.549 KIF22 Zornitza Stark edited their review of gene: KIF22: Added comment: PMID 38477767 reports six individuals from six unrelated families (three with a homozygous c.146G>A p.Arg49Gln recessive variant and three with heterozygous c.443C>T p.Pro148Leu or c.446G>A p.Arg149Gln dominant variants) presenting with spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (lepto‑SEMDJL). All patients display short stature, generalized joint laxity, multiple dislocations, scoliosis, and characteristic radiographic findings.

Evidence for recessive disease is limited to the one variant, albeit in three families (?founder).; Changed publications: 25256152, 38477767; Changed phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 2, MIM# 603546; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.549 Zornitza Stark Added reviews for gene KIF22 from panel Mendeliome
Fetal anomalies v1.548 Rylee Peters Added reviews for gene MMP15 from panel Mendeliome
Fetal anomalies v1.547 DLX5 Zornitza Stark Publications for gene: DLX5 were set to 22121204; 24496061; 25196357; 20534536; 12112878
Fetal anomalies v1.546 DLX5 Zornitza Stark reviewed gene: DLX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 41760400; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.546 Chirag Patel Added reviews for gene NUDCD2 from panel Mendeliome
Fetal anomalies v1.545 NUS1 Zornitza Stark Classified gene: NUS1 as Red List (low evidence)
Fetal anomalies v1.545 NUS1 Zornitza Stark Gene: nus1 has been classified as Red List (Low Evidence).
Fetal anomalies v1.544 NUS1 Zornitza Stark edited their review of gene: NUS1: Added comment: Limited evidence for the AR disorder, little if any replication over time which is concerning. Monoallelic disorder lacks prenatal findings.; Changed rating: RED
Fetal anomalies v1.544 Sarah Milton Copied gene TOMM7 from panel Mendeliome
Fetal anomalies v1.544 TOMM7 Sarah Milton gene: TOMM7 was added
gene: TOMM7 was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOMM7 were set to 36299998; 36282599
Phenotypes for gene: TOMM7 were set to Garg-Mishra progeroid syndrome, MIM# 620601
Fetal anomalies v1.543 CCDC57 Zornitza Stark Marked gene: CCDC57 as ready
Fetal anomalies v1.543 CCDC57 Zornitza Stark Gene: ccdc57 has been classified as Red List (Low Evidence).
Fetal anomalies v1.543 Zornitza Stark Copied gene CCDC57 from panel Mendeliome
Fetal anomalies v1.543 CCDC57 Zornitza Stark gene: CCDC57 was added
gene: CCDC57 was added to Fetal anomalies. Sources: Expert Review Red,Literature
Mode of inheritance for gene: CCDC57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC57 were set to 41758249
Phenotypes for gene: CCDC57 were set to Visceral heterotaxy, MONDO:0018677, CCDC57-related
Fetal anomalies v1.542 Lucy Spencer Added reviews for gene PRDM15 from panel Mendeliome
Fetal anomalies v1.541 DMRT2 Zornitza Stark Phenotypes for gene: DMRT2 were changed from skeletal dysplasia MONDO:0018230; DMRT2-related to Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523
Fetal anomalies v1.540 DMRT2 Zornitza Stark reviewed gene: DMRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.540 GRK2 Zornitza Stark Publications for gene: GRK2 were set to 33200460
Fetal anomalies v1.539 GRK2 Zornitza Stark Classified gene: GRK2 as Green List (high evidence)
Fetal anomalies v1.539 GRK2 Zornitza Stark Gene: grk2 has been classified as Green List (High Evidence).
Fetal anomalies v1.538 GRK2 Zornitza Stark reviewed gene: GRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38647386; Phenotypes: Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.538 PPP1R12A Zornitza Stark Phenotypes for gene: PPP1R12A were changed from Intellectual disability; holoprosencephaly; disorder of sex development to Genitourinary and/or/brain malformation syndrome MIM#618820
Fetal anomalies v1.537 PPP1R12A Zornitza Stark reviewed gene: PPP1R12A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Genitourinary and/or/brain malformation syndrome MIM#618820; Mode of inheritance: None
Fetal anomalies v1.537 NEK9 Zornitza Stark Classified gene: NEK9 as Green List (high evidence)
Fetal anomalies v1.537 NEK9 Zornitza Stark Gene: nek9 has been classified as Green List (High Evidence).
Fetal anomalies v1.536 NEK9 Zornitza Stark edited their review of gene: NEK9: Added comment: Three more families reported with milder phenotypes, but still a range of abnormalities that are potentially detectable on fetal US.; Changed rating: GREEN; Changed publications: 26908619, 21271645, 36712877
Fetal anomalies v1.536 LRRC32 Zornitza Stark Publications for gene: LRRC32 were set to 30976112
Fetal anomalies v1.535 LRRC32 Zornitza Stark reviewed gene: LRRC32: Rating: AMBER; Mode of pathogenicity: None; Publications: 41041957; Phenotypes: Cleft palate, proliferative retinopathy, and developmental delay - MIM#619074; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.535 GINS3 Zornitza Stark Marked gene: GINS3 as ready
Fetal anomalies v1.535 GINS3 Zornitza Stark Gene: gins3 has been classified as Green List (High Evidence).
Fetal anomalies v1.535 GINS3 Zornitza Stark Phenotypes for gene: GINS3 were changed from Meier-Gorlin syndrome, MONDO:0016817, GINS3-related to Meier-Gorlin syndrome 9, MIM# 621512
Fetal anomalies v1.534 GINS3 Zornitza Stark Classified gene: GINS3 as Green List (high evidence)
Fetal anomalies v1.534 GINS3 Zornitza Stark Gene: gins3 has been classified as Green List (High Evidence).
Fetal anomalies v1.533 GINS3 Zornitza Stark edited their review of gene: GINS3: Changed phenotypes: Meier-Gorlin syndrome 9, MIM# 621512
Fetal anomalies v1.533 FGD5 Krithika Murali Phenotypes for gene: FGD5 were changed from tetralogy of fallot MONDO:0008542 to Congenital heart disease - MONDO:0005453, FGD5-related
Fetal anomalies v1.532 FGD5 Krithika Murali Publications for gene: FGD5 were set to 32037394; 30232381
Fetal anomalies v1.531 FGD5 Krithika Murali Classified gene: FGD5 as Amber List (moderate evidence)
Fetal anomalies v1.531 FGD5 Krithika Murali Gene: fgd5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.530 Krithika Murali Added reviews for gene FGD5 from panel Mendeliome
Fetal anomalies v1.529 Krithika Murali Copied gene FGD5 from panel Mendeliome
Fetal anomalies v1.529 FGD5 Krithika Murali gene: FGD5 was added
gene: FGD5 was added to Fetal anomalies. Sources: Expert Review Red,Literature
Mode of inheritance for gene: FGD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGD5 were set to 32037394; 30232381
Phenotypes for gene: FGD5 were set to tetralogy of fallot MONDO:0008542
Fetal anomalies v1.528 PTBP1 Zornitza Stark Phenotypes for gene: PTBP1 were changed from Neurodevelopmental disorder (MONDO:0700092), PTBP1-related to STAD syndrome, MIM# 621495
Fetal anomalies v1.527 PTBP1 Zornitza Stark reviewed gene: PTBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: STAD syndrome, MIM# 621495; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.527 DHRS3 Zornitza Stark Phenotypes for gene: DHRS3 were changed from Syndromic disease, MONDO:0002254, DHRS3-related to Craniosynostosis-scoliosis syndrome, MIM# 621499
Fetal anomalies v1.526 DHRS3 Zornitza Stark edited their review of gene: DHRS3: Changed phenotypes: Craniosynostosis-scoliosis syndrome, MIM# 621499
Fetal anomalies v1.526 KDM2B Zornitza Stark Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder MONDO#0700092, KDM2B-related to neurodevNeurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474
Fetal anomalies v1.525 KDM2B Zornitza Stark reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.525 ISCA-46300-Loss Zornitza Stark Marked Region: ISCA-46300-Loss as ready
Fetal anomalies v1.525 ISCA-46300-Loss Zornitza Stark Region: isca-46300-loss has been classified as Green List (High Evidence).
Fetal anomalies v1.525 ISCA-46300-Loss Zornitza Stark Classified Region: ISCA-46300-Loss as Green List (high evidence)
Fetal anomalies v1.525 ISCA-46300-Loss Zornitza Stark Region: isca-46300-loss has been classified as Green List (High Evidence).
Fetal anomalies v1.524 Sarah Milton Copied Region ISCA-46300-Loss from panel Common deletion and duplication syndromes
Fetal anomalies v1.524 ISCA-46300-Loss Sarah Milton Region: ISCA-46300-Loss was added
Region: ISCA-46300-Loss was added to Fetal anomalies. Sources: ClinGen
Mode of inheritance for Region: ISCA-46300-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-46300-Loss were set to Chromosome 15q24 deletion syndrome, MONDO:0013256
Fetal anomalies v1.523 PAICS Zornitza Stark Phenotypes for gene: PAICS were changed from Polyhydramnios; multiple congenital abnormalities; early neonatal death to PAICS deficiency MONDO:0859003
Fetal anomalies v1.522 PAICS Zornitza Stark edited their review of gene: PAICS: Changed phenotypes: PAICS deficiency MONDO:0859003
Fetal anomalies v1.522 TMPRSS7 Zornitza Stark Marked gene: TMPRSS7 as ready
Fetal anomalies v1.522 TMPRSS7 Zornitza Stark Gene: tmprss7 has been classified as Red List (Low Evidence).
Fetal anomalies v1.522 Zornitza Stark Copied gene TMPRSS7 from panel Intellectual disability syndromic and non-syndromic
Fetal anomalies v1.522 TMPRSS7 Zornitza Stark gene: TMPRSS7 was added
gene: TMPRSS7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TMPRSS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS7 were set to 40796295
Phenotypes for gene: TMPRSS7 were set to Neurodevelopmental disorder, TMPRSS7-related
Fetal anomalies v1.521 ARCN1 Zornitza Stark Publications for gene: ARCN1 were set to 27476655; 33154040
Fetal anomalies v1.520 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Changed publications: 27476655, 33154040, 35300924
Fetal anomalies v1.520 ARCN1 Zornitza Stark changed review comment from: 4 unrelated families reported.; to: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).
Fetal anomalies v1.520 VPS51 Zornitza Stark Publications for gene: VPS51 were set to PMID: 30624672; 31207318
Fetal anomalies v1.519 VPS51 Zornitza Stark Classified gene: VPS51 as Green List (high evidence)
Fetal anomalies v1.519 VPS51 Zornitza Stark Gene: vps51 has been classified as Green List (High Evidence).
Fetal anomalies v1.518 VPS51 Zornitza Stark reviewed gene: VPS51: Rating: GREEN; Mode of pathogenicity: None; Publications: 40176246, 40565173; Phenotypes: Pontocerebellar hypoplasia, type 13, MIM# 618606; Mode of inheritance: None
Fetal anomalies v1.518 MYL1 Zornitza Stark Publications for gene: MYL1 were set to 30215711
Fetal anomalies v1.517 MYL1 Zornitza Stark Classified gene: MYL1 as Green List (high evidence)
Fetal anomalies v1.517 MYL1 Zornitza Stark Gene: myl1 has been classified as Green List (High Evidence).
Fetal anomalies v1.516 MYL1 Zornitza Stark edited their review of gene: MYL1: Added comment: PMID 40488356 reports 4 individuals from 4 unrelated families with biallelic loss‑of‑function MYL1 variants (nonsense, frameshift, splice‑site, missense) presenting with severe congenital myopathy: antenatal/polyhydramnios, early hypotonia, respiratory insufficiency requiring ventilation, feeding difficulties, skeletal fractures, and a distinctive floret‑like pattern of small fast‑twitch fibres on muscle biopsy.; Changed rating: GREEN; Changed publications: 30215711, 40488356
Fetal anomalies v1.516 HEY2 Zornitza Stark Classified gene: HEY2 as Amber List (moderate evidence)
Fetal anomalies v1.516 HEY2 Zornitza Stark Gene: hey2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.515 HEY2 Zornitza Stark reviewed gene: HEY2: Rating: AMBER; Mode of pathogenicity: None; Publications: 40481234; Phenotypes: Congenital heart disease, MONDO:0005453, HEY2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.515 GSPT2 Zornitza Stark Phenotypes for gene: GSPT2 were changed from Intellectual disability MONDO:0001071, GSPT2-related to Neurodevelopmental disorder, MONDO:0700092, GSPT2-related
Fetal anomalies v1.514 GSPT2 Zornitza Stark Publications for gene: GSPT2 were set to 28414775
Fetal anomalies v1.513 GSPT2 Zornitza Stark Classified gene: GSPT2 as Green List (high evidence)
Fetal anomalies v1.513 GSPT2 Zornitza Stark Gene: gspt2 has been classified as Green List (High Evidence).
Fetal anomalies v1.512 GSPT2 Zornitza Stark edited their review of gene: GSPT2: Added comment: PMID 41420488: Six unrelated males reported with hemizygosity for variants in GSTP2 and neurodevelopmental disorder including intellectual disability, language impairment, autism, motor impairment, epilepsy, or abnormal fetal brain development. Variants were reported to be inherited from unaffected mothers. Functional evidence did support deleterious effects of the variants and gene knock-out.; Changed rating: GREEN; Changed publications: 28414775, 41420488; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, GSPT2-related
Fetal anomalies v1.512 Sarah Milton Copied Region ISCA-37500-Loss from panel Common deletion and duplication syndromes
Fetal anomalies v1.512 ISCA-37500-Loss Sarah Milton Region: ISCA-37500-Loss was added
Region: ISCA-37500-Loss was added to Fetal anomalies. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37500-Loss were set to 20921022; 24352913
Phenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome MIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities
Fetal anomalies v1.511 SCYL2 Zornitza Stark Publications for gene: SCYL2 were set to 31960134; 26203146
Fetal anomalies v1.510 SCYL2 Zornitza Stark Classified gene: SCYL2 as Green List (high evidence)
Fetal anomalies v1.510 SCYL2 Zornitza Stark Gene: scyl2 has been classified as Green List (High Evidence).
Fetal anomalies v1.509 SCYL2 Zornitza Stark reviewed gene: SCYL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 40243816, 39169672, 31960134; Phenotypes: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.509 ESRP2 Zornitza Stark Phenotypes for gene: ESRP2 were changed from Cleft lip to Orofacial cleft MONDO:0000358, ESRP2-related
Fetal anomalies v1.508 ESRP2 Zornitza Stark Publications for gene: ESRP2 were set to 29805042
Fetal anomalies v1.507 ESRP2 Zornitza Stark Classified gene: ESRP2 as Green List (high evidence)
Fetal anomalies v1.507 ESRP2 Zornitza Stark Gene: esrp2 has been classified as Green List (High Evidence).
Fetal anomalies v1.506 ESRP2 Zornitza Stark reviewed gene: ESRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 39179789; Phenotypes: Orofacial cleft MONDO:0000358, ESRP2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.506 Sarah Milton Copied Region ISCA-37430-Loss from panel Common deletion and duplication syndromes
Fetal anomalies v1.506 ISCA-37430-Loss Sarah Milton Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Fetal anomalies. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM# 247200
Fetal anomalies v1.505 KMT5B Lucy Spencer Phenotypes for gene: KMT5B were changed from Mental retardation, autosomal dominant 51, MIM#617788 to Intellectual developmental disorder, autosomal dominant 51 MIM# 617788
Fetal anomalies v1.504 FIBP Zornitza Stark Classified gene: FIBP as Green List (high evidence)
Fetal anomalies v1.504 FIBP Zornitza Stark Gene: fibp has been classified as Green List (High Evidence).
Fetal anomalies v1.503 FIBP Zornitza Stark reviewed gene: FIBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 40099975, 37876348, 36919607, 27183861, 26660953; Phenotypes: Thauvin-Robinet-Faivre syndrome, MIM#617107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.503 Bryony Thompson Copied STR ZIC2_HPE5_GCN from panel Repeat Disorders
Fetal anomalies v1.503 ZIC2_HPE5_GCN Bryony Thompson STR: ZIC2_HPE5_GCN was added
STR: ZIC2_HPE5_GCN was added to Fetal anomalies. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: ZIC2_HPE5_GCN.
Mode of inheritance for STR: ZIC2_HPE5_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ZIC2_HPE5_GCN were set to 11285244; 33811808
Phenotypes for STR: ZIC2_HPE5_GCN were set to Holoprosencephaly 5 MIM#609637
Fetal anomalies v1.502 Bryony Thompson Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders
Fetal anomalies v1.502 PHOX2B_CCHS_GCN Bryony Thompson STR: PHOX2B_CCHS_GCN was added
STR: PHOX2B_CCHS_GCN was added to Fetal anomalies. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: PHOX2B_CCHS_GCN.
Mode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833
Phenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880
Fetal anomalies v1.501 Bryony Thompson Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders
Fetal anomalies v1.501 HOXA13_HFGS_GCN3 Bryony Thompson STR: HOXA13_HFGS_GCN3 was added
STR: HOXA13_HFGS_GCN3 was added to Fetal anomalies. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.
Mode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808
Phenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000
Fetal anomalies v1.500 LMNB2 Zornitza Stark Publications for gene: LMNB2 were set to 33033404
Fetal anomalies v1.499 LMNB2 Zornitza Stark reviewed gene: LMNB2: Rating: RED; Mode of pathogenicity: None; Publications: 40011009; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.499 RSPRY1 Zornitza Stark Phenotypes for gene: RSPRY1 were changed from Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723 to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723
Fetal anomalies v1.498 RSPRY1 Zornitza Stark Publications for gene: RSPRY1 were set to 26365341
Fetal anomalies v1.497 RSPRY1 Zornitza Stark Classified gene: RSPRY1 as Green List (high evidence)
Fetal anomalies v1.497 RSPRY1 Zornitza Stark Gene: rspry1 has been classified as Green List (High Evidence).
Fetal anomalies v1.496 RSPRY1 Zornitza Stark edited their review of gene: RSPRY1: Added comment: PMIDs 30063090, 38562122 and 39940902 add three additional unrelated families (total 5 families, 12 patients) with autosomal recessive loss‑of‑function RSPRY1 variants causing spondyloepimetaphyseal dysplasia, Faden‑Alkuraya type.; Changed rating: GREEN; Changed publications: 26365341, 30063090, 38562122, 39940902
Fetal anomalies v1.496 ABL1 Zornitza Stark Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations syndrome, MONDO:0060532; Congenital heart defects and skeletal malformations, OMIM:617602 to Congenital heart defects and skeletal malformations syndrome, MONDO:0060532; Congenital heart defects and skeletal malformations, OMIM:617602; Human ABL1 Deficiency Syndrome (HADS)
Fetal anomalies v1.495 ABL1 Zornitza Stark Publications for gene: ABL1 were set to 33461977; 28288113
Fetal anomalies v1.494 ABL1 Zornitza Stark Mode of inheritance for gene: ABL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.493 ABL1 Zornitza Stark changed review comment from: New recessive gene-disease association - 3 consanguineous families reported.

PMID: 39155385 - Lebanese consanguineous family with a history of cardiac abnormalities. Homozygous LoF variant (NM_007313.3:c.1A > G-p.Met1?) was identified in sequencing and was shown to only be expressed in one isoform of ABL1.

PMID: 38743093 - two other consanguineous families presenting with congenital malformations and facial dysmorphism. Homozygous LoF variants were identified - Gly671Alafs*93 and Glu675Glyfs*71 (both absent from gnomAD v4.1)

Postulated that LOF variants affecting solely ABL1 isoform 1b may lead to the distinct autosomal recessive new phenotype; to: New recessive gene-disease association - 3 consanguineous families reported. AMBER for this association and MOI.

PMID: 39155385 - Lebanese consanguineous family with a history of cardiac abnormalities. Homozygous LoF variant (NM_007313.3:c.1A > G-p.Met1?) was identified in sequencing and was shown to only be expressed in one isoform of ABL1.

PMID: 38743093 - two other consanguineous families presenting with congenital malformations and facial dysmorphism. Homozygous LoF variants were identified - Gly671Alafs*93 and Glu675Glyfs*71 (both absent from gnomAD v4.1)

Postulated that LOF variants affecting solely ABL1 isoform 1b may lead to the distinct autosomal recessive new phenotype
Fetal anomalies v1.493 ABL1 Zornitza Stark edited their review of gene: ABL1: Added comment: New recessive gene-disease association - 3 consanguineous families reported.

PMID: 39155385 - Lebanese consanguineous family with a history of cardiac abnormalities. Homozygous LoF variant (NM_007313.3:c.1A > G-p.Met1?) was identified in sequencing and was shown to only be expressed in one isoform of ABL1.

PMID: 38743093 - two other consanguineous families presenting with congenital malformations and facial dysmorphism. Homozygous LoF variants were identified - Gly671Alafs*93 and Glu675Glyfs*71 (both absent from gnomAD v4.1)

Postulated that LOF variants affecting solely ABL1 isoform 1b may lead to the distinct autosomal recessive new phenotype; Changed publications: 33461977, 28288113, 39155385, 38743093; Changed phenotypes: Congenital heart defects and skeletal malformations syndrome, MIM# 617602, Human ABL1 Deficiency Syndrome (HADS); Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.493 Zornitza Stark Copied gene NUBP2 from panel Mendeliome
Fetal anomalies v1.493 NUBP2 Zornitza Stark gene: NUBP2 was added
gene: NUBP2 was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NUBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUBP2 were set to 39867373
Phenotypes for gene: NUBP2 were set to Neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v1.492 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis - MIM#606164 to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis - MIM#606164
Fetal anomalies v1.491 RPS28 Zornitza Stark Publications for gene: RPS28 were set to 24942156
Fetal anomalies v1.490 RPS28 Zornitza Stark Classified gene: RPS28 as Green List (high evidence)
Fetal anomalies v1.490 RPS28 Zornitza Stark Gene: rps28 has been classified as Green List (High Evidence).
Fetal anomalies v1.489 RPS28 Zornitza Stark reviewed gene: RPS28: Rating: GREEN; Mode of pathogenicity: None; Publications: 40135709; Phenotypes: Diamond Blackfan anaemia 15 with mandibulofacial dysostosis - MIM#606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.489 KIF21A Zornitza Stark Marked gene: KIF21A as ready
Fetal anomalies v1.489 KIF21A Zornitza Stark Gene: kif21a has been classified as Green List (High Evidence).
Fetal anomalies v1.489 KIF26B Lucy Spencer Phenotypes for gene: KIF26B were changed from Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis to Multiple congenital anomalies MONDO:0019042, KIF26B-related
Fetal anomalies v1.488 KIF21A Rylee Peters Phenotypes for gene: KIF21A were changed from Severe fetal akinesia with arthrogryposis multiplex to Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related
Fetal anomalies v1.487 KIF21A Rylee Peters Publications for gene: KIF21A were set to PMID: 34740919
Fetal anomalies v1.486 KIF21A Rylee Peters Classified gene: KIF21A as Green List (high evidence)
Fetal anomalies v1.486 KIF21A Rylee Peters Gene: kif21a has been classified as Green List (High Evidence).
Fetal anomalies v1.485 Rylee Peters Added reviews for gene KIF21A from panel Arthrogryposis
Fetal anomalies v1.484 KIF21B Lucy Spencer Phenotypes for gene: KIF21B were changed from Neurodevelopmental disorder, MONDO:0700092; Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly to Neurodevelopmental disorder MONDO:0700092, KIF21B-related
Fetal anomalies v1.483 EMX2 Zornitza Stark Classified gene: EMX2 as Red List (low evidence)
Fetal anomalies v1.483 EMX2 Zornitza Stark Gene: emx2 has been classified as Red List (Low Evidence).
Fetal anomalies v1.482 EMX2 Zornitza Stark edited their review of gene: EMX2: Changed rating: RED
Fetal anomalies v1.482 ISCA-37405-Loss Zornitza Stark Marked Region: ISCA-37405-Loss as ready
Fetal anomalies v1.482 ISCA-37405-Loss Zornitza Stark Region: isca-37405-loss has been classified as Green List (High Evidence).
Fetal anomalies v1.482 Sarah Milton Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes
Fetal anomalies v1.482 ISCA-37405-Loss Sarah Milton Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Fetal anomalies. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37405-Loss.
Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37405-Loss were set to 29146700
Phenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM# 256100; Joubert syndrome 4, MIM# 609583; Senior-Loken syndrome 1, MIM# 266900
Fetal anomalies v1.481 SLC39A8 Zornitza Stark Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn , MIM#16721 to Congenital disorder of glycosylation, type IIn , MIM#616721
Fetal anomalies v1.480 SLC39A8 Zornitza Stark edited their review of gene: SLC39A8: Changed phenotypes: Congenital disorder of glycosylation, type IIn , MIM#616721
Fetal anomalies v1.480 RSPRY1 Zornitza Stark Phenotypes for gene: RSPRY1 were changed from Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723
Fetal anomalies v1.479 RSPRY1 Zornitza Stark edited their review of gene: RSPRY1: Changed phenotypes: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723
Fetal anomalies v1.479 ISCA-37393-Gain Zornitza Stark Marked Region: ISCA-37393-Gain as ready
Fetal anomalies v1.479 ISCA-37393-Gain Zornitza Stark Region: isca-37393-gain has been classified as Green List (High Evidence).
Fetal anomalies v1.479 Sarah Milton Copied Region ISCA-37393-Gain from panel Common deletion and duplication syndromes
Fetal anomalies v1.479 ISCA-37393-Gain Sarah Milton Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Fetal anomalies. Sources: Expert Review Green,Expert Review
SV/CNV tags were added to Region: ISCA-37393-Gain.
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37393-Gain were set to Cat eye syndrome, MIM# 115470; coloboma; anal atresia; heart and renal malformations
Fetal anomalies v1.478 ESRP2 Chirag Patel Classified gene: ESRP2 as Amber List (moderate evidence)
Fetal anomalies v1.478 ESRP2 Chirag Patel Gene: esrp2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.477 COL10A1 Zornitza Stark Publications for gene: COL10A1 were set to 15880705; 31633898
Fetal anomalies v1.476 COL10A1 Zornitza Stark edited their review of gene: COL10A1: Changed publications: 15880705, 31633898, 31348255, 25542771
Fetal anomalies v1.476 COL10A1 Zornitza Stark changed review comment from: Note: Gene reviews also notes severe lethal phenotypes in recessive inheritance where parents were only mildly affected, however only 2 unrelated families reported to date (PMID: 31633898). Both haploinsufficiency and dominant-negative mechanisms have been suggested to cause disease (OMIM, PMID: 15880705, PMID: 31633898). “Pathogenic variants in COL10A1 are clustered in the C-terminal non-collagenous (NC1) domain, which contains motifs required for normal assembly of the collagen trimer. Both missense and truncating (frameshift and nonsense) variants in COL10A1 cause collagen X protein misfolding during protein synthesis, resulting in a failure of trimerization and aggregation within the endoplasmic reticulum (ER) of hypertrophic chondrocytes. Resultant ER stress, activation of the unfolded protein response, and reduced levels of functional type X collagen in the growth plate cause chondrodysplasia and development of the SMCD phenotype [Rajpar et al 2009].” -> from Gene Reviews (PMID: 31633898). Some pathogenic missense also reported in the N-terminal signal peptide (Decipher), however please note that to date, no Gly-X-Y substitutions in the collagen triple helix repeats have yet been reported, pathogenic or otherwise.; to: Note: Gene reviews also notes severe lethal phenotypes in recessive inheritance where parents were only mildly affected, however only 2 unrelated families reported to date (PMID: 31633898). Both haploinsufficiency and dominant-negative mechanisms have been suggested to cause disease (OMIM, PMID: 15880705, PMID: 31633898). “Pathogenic variants in COL10A1 are clustered in the C-terminal non-collagenous (NC1) domain, which contains motifs required for normal assembly of the collagen trimer. Both missense and truncating (frameshift and nonsense) variants in COL10A1 cause collagen X protein misfolding during protein synthesis, resulting in a failure of trimerization and aggregation within the endoplasmic reticulum (ER) of hypertrophic chondrocytes. Resultant ER stress, activation of the unfolded protein response, and reduced levels of functional type X collagen in the growth plate cause chondrodysplasia and development of the SMCD phenotype [Rajpar et al 2009].” -> from Gene Reviews (PMID: 31633898). Some pathogenic missense also reported in the N-terminal signal peptide (Decipher).

Note that unlike with other collagens, Gly-X-Y substitutions in the collagen triple helix repeats are very rarely reported as disease-causing, and may result in a milder phenotype (PMID 31348255; 25542771). These should be interpreted with caution.
Fetal anomalies v1.476 GSPT2 Lucy Spencer Phenotypes for gene: GSPT2 were changed from XL intellectual disability to Intellectual disability MONDO:0001071, GSPT2-related
Fetal anomalies v1.475 GRIN2B Lucy Spencer Phenotypes for gene: GRIN2B were changed from Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139 to GRIN2B-related complex neurodevelopmental disorder MONDO:0700350; Developmental and epileptic encephalopathy 27 MIM#616139; Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970
Fetal anomalies v1.474 GNPTAB Lucy Spencer Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta MIM#252500; Mucolipidosis III alpha/beta MIM#252600 to GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500; Mucolipidosis III alpha/beta, MIM# 252600
Fetal anomalies v1.473 GNB5 Lucy Spencer Phenotypes for gene: GNB5 were changed from Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE) to gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014953; Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173); Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)
Fetal anomalies v1.472 GPKOW Zornitza Stark Publications for gene: GPKOW were set to 28612833; 40221893
Fetal anomalies v1.471 Zornitza Stark Added reviews for gene GPKOW from panel Mendeliome
Fetal anomalies v1.470 TUBA8 Chirag Patel Tag disputed tag was added to gene: TUBA8.
Fetal anomalies v1.470 TUBA8 Chirag Patel reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.470 DNAH6 Chirag Patel Tag disputed tag was added to gene: DNAH6.
Fetal anomalies v1.470 FANCM Chirag Patel Tag refuted tag was added to gene: FANCM.
Fetal anomalies v1.470 NAA16 Zornitza Stark Marked gene: NAA16 as ready
Fetal anomalies v1.470 NAA16 Zornitza Stark Gene: naa16 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.470 Zornitza Stark Copied gene NAA16 from panel Congenital Heart Defect
Fetal anomalies v1.470 NAA16 Zornitza Stark gene: NAA16 was added
gene: NAA16 was added to Fetal anomalies. Sources: Expert Review Amber,Literature,Literature
Mode of inheritance for gene: NAA16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NAA16 were set to 41148812; 23665959; 28991257
Phenotypes for gene: NAA16 were set to Congenital heart disease, MONDO:0005453, NAA16-related
Fetal anomalies v1.469 ESRP2 Chirag Patel Classified gene: ESRP2 as Green List (high evidence)
Fetal anomalies v1.469 ESRP2 Chirag Patel Gene: esrp2 has been classified as Green List (High Evidence).
Fetal anomalies v1.468 Chirag Patel Added reviews for gene ESRP2 from panel Clefting disorders
Fetal anomalies v1.467 QSER1 Zornitza Stark Marked gene: QSER1 as ready
Fetal anomalies v1.467 QSER1 Zornitza Stark Gene: qser1 has been classified as Red List (Low Evidence).
Fetal anomalies v1.467 QSER1 Sarah Milton reviewed gene: QSER1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 41139957; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, QSER1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.467 QSER1 Sarah Milton Deleted their review
Fetal anomalies v1.467 Sarah Milton Copied gene QSER1 from panel Mendeliome
Fetal anomalies v1.467 QSER1 Sarah Milton gene: QSER1 was added
gene: QSER1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: QSER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: QSER1 were set to PMID: 41139957
Phenotypes for gene: QSER1 were set to Neurodevelopmental disorder, MONDO:0700092, QSER1-related
Fetal anomalies v1.466 PAN2 Zornitza Stark Phenotypes for gene: PAN2 were changed from Syndromic disease MONDO:0002254 to Developmental delay with variable cardiac and renal congenital anomalies and dysmoprhic facies, MIM# 621384
Fetal anomalies v1.465 PAN2 Zornitza Stark edited their review of gene: PAN2: Changed phenotypes: Developmental delay with variable cardiac and renal congenital anomalies and dysmoprhic facies, MIM# 621384
Fetal anomalies v1.465 TMEM17 Chirag Patel Classified gene: TMEM17 as Green List (high evidence)
Fetal anomalies v1.465 TMEM17 Chirag Patel Gene: tmem17 has been classified as Green List (High Evidence).
Fetal anomalies v1.464 TMEM17 Chirag Patel Phenotypes for gene: TMEM17 were changed from Meckel syndrome MONDO:0018921; TMEM17-related to Meckel syndrome MONDO:0018921, TMEM17-related
Fetal anomalies v1.463 TMEM17 Chirag Patel Publications for gene TMEM17 were changed from 41054827, 40841990 to 41054827, 40841990
Fetal anomalies v1.462 TMEM17 Chirag Patel edited their review of gene: TMEM17: Added comment: 2 additional unrelated fetuses with clinical diagnosis of Meckel-Gruber syndrome (occipital encephalocele, polydactyly, and kidney cysts). WES identified a founder homozygous missense variant (Arg94Trp) in TMEM17 gene.

Comprehensive functional analyses of all known TMEM17 variants, using patient tissues/cells and a C. elegans model system, demonstrate a loss-of-function mechanism. The study reveals severe functional consequences, including TMEM17 destabilization and mislocalization, anomalies in cilium composition and function, and abrogation of Sonic Hedgehog signaling.; Changed rating: GREEN; Changed publications: 41054827, 40841990
Fetal anomalies v1.462 SNAPIN Zornitza Stark Phenotypes for gene: SNAPIN were changed from Neurodevelopmental disorder (MONDO:0700092), SNAPIN-related to Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393
Fetal anomalies v1.461 SNAPIN Zornitza Stark reviewed gene: SNAPIN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.461 LOXL3 Zornitza Stark Phenotypes for gene: LOXL3 were changed from Stickler syndrome; cleft lip/palate to Stickler syndrome, MONDO:0019354, LOXL3-related
Fetal anomalies v1.460 LOXL3 Zornitza Stark Publications for gene: LOXL3 were set to 25663169; 26307084; 26957899; 29802726; 30362103; 34787502
Fetal anomalies v1.459 LOXL3 Zornitza Stark Classified gene: LOXL3 as Green List (high evidence)
Fetal anomalies v1.459 LOXL3 Zornitza Stark Gene: loxl3 has been classified as Green List (High Evidence).
Fetal anomalies v1.458 LOXL3 Zornitza Stark reviewed gene: LOXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 41052910; Phenotypes: Stickler syndrome, MONDO:0019354, LOXL3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.458 NOG Zornitza Stark Phenotypes for gene: NOG were changed from Brachydactyly, type B2 (MIM#611377); Multiple synostoses syndrome 1 (MIM#186500); Stapes ankylosis with broad thumbs and toes (MIM#184460); Symphalangism, proximal, 1A (MIM#185800); Tarsal-carpal coalition syndrome (MIM#186570) to NOG-related symphalangism spectrum disorder MONDO:0100521
Fetal anomalies v1.457 NOG Zornitza Stark reviewed gene: NOG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: NOG-related symphalangism spectrum disorder MONDO:0100521; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.457 AMOT Zornitza Stark Marked gene: AMOT as ready
Fetal anomalies v1.457 AMOT Zornitza Stark Gene: amot has been classified as Red List (Low Evidence).
Fetal anomalies v1.457 AMOT Zornitza Stark Classified gene: AMOT as Red List (low evidence)
Fetal anomalies v1.457 AMOT Zornitza Stark Gene: amot has been classified as Red List (Low Evidence).
Fetal anomalies v1.456 AMOT Zornitza Stark reviewed gene: AMOT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.456 EIF3B Zornitza Stark changed review comment from: Four individuals reported with mono-allelic variants. The clinical phenotype varied but predominantly included cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioural abnormalities. Zebrafish model recapitulated phenotype.
Sources: Literature; to: Fourteen individuals reported with mono-allelic variants. The clinical phenotype varied but predominantly included cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioural abnormalities. Zebrafish model recapitulated phenotype.
Sources: Literature
Fetal anomalies v1.456 EIF3B Zornitza Stark Marked gene: EIF3B as ready
Fetal anomalies v1.456 EIF3B Zornitza Stark Gene: eif3b has been classified as Green List (High Evidence).
Fetal anomalies v1.456 EIF3B Zornitza Stark Classified gene: EIF3B as Green List (high evidence)
Fetal anomalies v1.456 EIF3B Zornitza Stark Gene: eif3b has been classified as Green List (High Evidence).
Fetal anomalies v1.455 EIF3B Zornitza Stark gene: EIF3B was added
gene: EIF3B was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: EIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF3B were set to 41033306
Phenotypes for gene: EIF3B were set to Syndromic disease (MONDO:0002254), EIF3B-related
Review for gene: EIF3B was set to GREEN
Added comment: Four individuals reported with mono-allelic variants. The clinical phenotype varied but predominantly included cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioural abnormalities. Zebrafish model recapitulated phenotype.
Sources: Literature
Fetal anomalies v1.454 EIF3A Zornitza Stark Marked gene: EIF3A as ready
Fetal anomalies v1.454 EIF3A Zornitza Stark Gene: eif3a has been classified as Green List (High Evidence).
Fetal anomalies v1.454 EIF3A Zornitza Stark Classified gene: EIF3A as Green List (high evidence)
Fetal anomalies v1.454 EIF3A Zornitza Stark Gene: eif3a has been classified as Green List (High Evidence).
Fetal anomalies v1.453 EIF3A Zornitza Stark gene: EIF3A was added
gene: EIF3A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: EIF3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF3A were set to 41033306
Phenotypes for gene: EIF3A were set to Syndromic disease (MONDO:0002254), EIF3A-related
Review for gene: EIF3A was set to GREEN
Added comment: Four individuals reported with mono-allelic variants. The clinical phenotype varied but predominantly included cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioural abnormalities. Zebrafish model recapitulated phenotype.
Sources: Literature
Fetal anomalies v1.452 WNT4 Zornitza Stark Publications for gene: WNT4 were set to 22503279; 21377155; 16959810; 18179883; 15317892; 18182450
Fetal anomalies v1.451 WNT4 Zornitza Stark edited their review of gene: WNT4: Added comment: Biallelic variants in WNT4 have been linked to SERKAL syndrome, an autosomal recessive disorder characterized by 46,XX sex reversal and dysgenesis of the kidneys, adrenals, and lungs. SERKAL syndrome has only been described in a single consanguineous kindred with four affected fetuses.

PMID 40992710 reports second affected family, consanguineous, which had an affected fetus with CDH and an affected child had orofacial clefting.
A subset of Wnt4 null mouse embryos had perimembranous VSDs, anterior and posterior sac CDH, and soft palate clefts.

Bi-allelic association: two consanguineous families and a mouse model, maintain AMBER rating.; Changed publications: 22503279, 21377155, 16959810, 18179883, 40992710
Fetal anomalies v1.451 PDIA6 Zornitza Stark Phenotypes for gene: PDIA6 were changed from Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes to multiple congenital anomalies, MONDO:0019042, PDIA6-related
Fetal anomalies v1.450 PDIA6 Zornitza Stark Publications for gene: PDIA6 were set to 33495992
Fetal anomalies v1.449 PDIA6 Zornitza Stark Classified gene: PDIA6 as Green List (high evidence)
Fetal anomalies v1.449 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Green List (High Evidence).
Fetal anomalies v1.448 MIA3 Zornitza Stark Publications for gene: MIA3 were set to PMID: 32101163; 33778321
Fetal anomalies v1.447 MIA3 Zornitza Stark Classified gene: MIA3 as Green List (high evidence)
Fetal anomalies v1.447 MIA3 Zornitza Stark Gene: mia3 has been classified as Green List (High Evidence).
Fetal anomalies v1.446 MIA3 Zornitza Stark reviewed gene: MIA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 40948380, 40119123; Phenotypes: Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.446 PTBP1 Zornitza Stark Marked gene: PTBP1 as ready
Fetal anomalies v1.446 PTBP1 Zornitza Stark Gene: ptbp1 has been classified as Green List (High Evidence).
Fetal anomalies v1.446 PTBP1 Zornitza Stark Classified gene: PTBP1 as Green List (high evidence)
Fetal anomalies v1.446 PTBP1 Zornitza Stark Gene: ptbp1 has been classified as Green List (High Evidence).
Fetal anomalies v1.445 FAP Zornitza Stark Marked gene: FAP as ready
Fetal anomalies v1.445 FAP Zornitza Stark Gene: fap has been classified as Red List (Low Evidence).
Fetal anomalies v1.445 FAP Zornitza Stark gene: FAP was added
gene: FAP was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAP were set to 40949908
Phenotypes for gene: FAP were set to congenital pulmonary airway malformation MONDO:0016580
Review for gene: FAP was set to RED
Added comment: Only 1 reported fetus with a diagnosis of congenital pulmonary airway malformation Heterozygous variant identified - c.T269G:p.L90W. The variant is present in gnomAD v4.1 - EAS AF - 0.007% (4 hets)
Sources: Literature
Fetal anomalies v1.444 CDK9 Zornitza Stark Marked gene: CDK9 as ready
Fetal anomalies v1.444 CDK9 Zornitza Stark Gene: cdk9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.444 CDK9 Zornitza Stark Classified gene: CDK9 as Amber List (moderate evidence)
Fetal anomalies v1.444 CDK9 Zornitza Stark Gene: cdk9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.443 CDK9 Zornitza Stark gene: CDK9 was added
gene: CDK9 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CDK9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK9 were set to 33640901; 30237576; 26633546
Phenotypes for gene: CDK9 were set to multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO:0015160; CHARGE-like syndrome with retinal dystrophy
Review for gene: CDK9 was set to AMBER
Added comment: Two independent reports of relevance to this panel:
1) A boy with a phenotype resembling CHARGE syndrome (multiple anomalies involving the eyes, ears, cleft lip, and palate, and intellectual disability) with retinal dystrophy (p.A288T/p.R303C),
2) 4 consanguineous families homozygous for p.R225C, including a set of cousins. CDK9 variants demonstrated decreased kinase activity. One of the studies suggested the extent the kinase activity is reduced may account for the absence/presence of the CHARGE-like phenotype with retinal dystrophy.

One additional family with retinal dystrophy only.
Sources: Literature
Fetal anomalies v1.442 ATP1A3 Chirag Patel Source Genomics England PanelApp was removed from ATP1A3.
Source Literature was removed from ATP1A3.
Source Genetic Health Queensland was removed from ATP1A3.
Source Expert list was added to ATP1A3.
Phenotypes for gene: ATP1A3 were changed from Developmental and epileptic encephalopathy 99, MIM# 619606; Polymicrogyria to ATP1A3-associated neurological disorder, MONDO:0700002
Publications for gene ATP1A3 were changed from 15260953, 22842232, 24468074, 33762331, 29861155, 31425744 to 15260953, 22842232, 24468074, 33762331, 29861155, 31425744
Fetal anomalies v1.441 DNAH8 Chirag Patel Phenotypes for gene: DNAH8 were changed from primary ciliary dyskinesia to Primary ciliary dyskinesia, MONDO:0016575, DNAH8-related
Publications for gene DNAH8 were changed from 24307375 to 24307375
Fetal anomalies v1.440 DHCR24 Chirag Patel Source Genomics England PanelApp was removed from DHCR24.
Phenotypes for gene: DHCR24 were changed from Desmosterolosis, MIM# 602398 to Desmosterolosis, MONDO:0011217
Publications for gene DHCR24 were changed from 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936 to 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936
Fetal anomalies v1.439 DDX11 Chirag Patel Source Genomics England PanelApp was removed from DDX11.
Source Literature was removed from DDX11.
Source Genetic Health Queensland was removed from DDX11.
Source ClinGen was added to DDX11.
Phenotypes for gene: DDX11 were changed from Warsaw breakage syndrome, MIM# 613398; MONDO:0013252 to Warsaw breakage syndrome, MONDO:0013252
Publications for gene DDX11 were changed from 20137776, 23033317, 30216658, 30924321, 32855419, 36703504, 26089203 to 20137776, 23033317, 30216658, 30924321, 32855419, 36703504, 26089203
Fetal anomalies v1.438 AMOT Rylee Peters gene: AMOT was added
gene: AMOT was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: AMOT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AMOT were set to 40892511
Phenotypes for gene: AMOT were set to Congenital hydrocephalus MONDO:0016349, AMOT-related
Review for gene: AMOT was set to AMBER
Added comment: 1x family with isolated X-linked congenital hydrocephalus – clinical presentation considered late, identified in the third trimester. Variant segregated with disease in 6x affected hemizygous males (4x live-born and 2x terminated male fetuses). Carrier females are apparently normal (no brain MRI was performed).

Exome sequencing identified start loss variant, c.2T>C p.(Met1Thr). Functional analyses identify that the variant results in a protein lacking 91 amino acids from the N-terminus and leads to abnormally increased AMOT protein levels (increased stability due to loss of degradation signals), which disrupts epithelial and endothelial barrier integrity.
Sources: Literature
Fetal anomalies v1.438 ATP5O Bryony Thompson Tag new gene name tag was added to gene: ATP5O.
Fetal anomalies v1.438 PTBP1 Lucy Spencer gene: PTBP1 was added
gene: PTBP1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTBP1 were set to 40965981
Phenotypes for gene: PTBP1 were set to Neurodevelopmental disorder (MONDO:0700092), PTBP1-related
Review for gene: PTBP1 was set to GREEN
Added comment: PMID: 40965981 27 individuals with abnormal prenatal ultrasound in thirteen (48%) including short femora, IUGR, hydramnios, increased nuchal translucency, asymmetry of heart cavities, and bilateral hydronephrosis. Skeletal anomalies were seen in 24 (89%), short stature/limbs in 63%, facial dysmorphism 25 (93%), developmental delay in 78%, behavioral problems in 30% and ID in 26% generally mild/moderate, 43% had variable brain MRI abnormalities. additional features included skin, nail, and hair anomalies (52%), dental anomalies (37%), ophthalmological findings (44%), and cardiovascular defects (22%).

Variants a mix of missense and startloss, and were confirmed de novo in 23/17 cases.

Various functional studies showed reduced nuclear localization and enhanced cytoplasmic retention, with start-loss variants also leading to increased protein stability.
Sources: Literature
Fetal anomalies v1.438 ITGAV Zornitza Stark Phenotypes for gene: ITGAV were changed from Syndromic disease, MONDO:0002254, ITGAV-related to Neurodevelopmental disorder with speech delay and behavioural abnormalities, MIM# 621372
Fetal anomalies v1.437 ITGAV Zornitza Stark Classified gene: ITGAV as Green List (high evidence)
Fetal anomalies v1.437 ITGAV Zornitza Stark Gene: itgav has been classified as Green List (High Evidence).
Fetal anomalies v1.436 ITGAV Zornitza Stark edited their review of gene: ITGAV: Changed rating: GREEN; Changed phenotypes: Neurodevelopmental disorder with speech delay and behavioural abnormalities, MIM# 621372
Fetal anomalies v1.436 DNM1L Chirag Patel Source Genomics England PanelApp was removed from DNM1L.
Source Genetic Health Queensland was removed from DNM1L.
Source ClinGen was added to DNM1L.
Source Literature was added to DNM1L.
Phenotypes for gene: DNM1L were changed from Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726
Publications for gene DNM1L were changed from 31587467, 27145208, 26604000, 27301544, 26931468, 33718295, 30109270, 26825290, 27328748 to 31587467, 27145208, 26604000, 27301544, 26931468, 33718295, 30109270, 26825290, 27328748
Fetal anomalies v1.435 PDIA6 Sarah Milton reviewed gene: PDIA6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40974269, 35856135, 33495992; Phenotypes: multiple congenital anomalies, MONDO:0019042, PDIA6-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.435 DDR2 Chirag Patel Source Genomics England PanelApp was removed from DDR2.
Source Genetic Health Queensland was removed from DDR2.
Source ClinGen was added to DDR2.
Phenotypes for gene: DDR2 were changed from Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR to Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, MONDO:0010077
Publications for gene DDR2 were changed from 19110212, 20223752, 24725993, 31406622, 33953858, 29884795, 35221872 to 19110212, 20223752, 24725993, 31406622, 33953858, 29884795, 35221872
Fetal anomalies v1.434 DIAPH1 Chirag Patel Source Genomics England PanelApp was removed from DIAPH1.
Source Expert Review was removed from DIAPH1.
Source Literature was added to DIAPH1.
Phenotypes for gene: DIAPH1 were changed from Seizures, cortical blindness, microcephaly syndrome, MIM#616632 to Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, MONDO:0014714
Publications for gene DIAPH1 were changed from 24781755, 26463574, 33662367, 36212620, 39076976, 39120629 to 24781755, 26463574, 33662367, 36212620, 39076976, 39120629
Fetal anomalies v1.433 THAP4 Zornitza Stark Marked gene: THAP4 as ready
Fetal anomalies v1.433 THAP4 Zornitza Stark Gene: thap4 has been classified as Red List (Low Evidence).
Fetal anomalies v1.433 THAP4 Zornitza Stark gene: THAP4 was added
gene: THAP4 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: THAP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THAP4 were set to 40949908
Phenotypes for gene: THAP4 were set to Congenital pulmonary airway malformation, MONDO:0016580, THAP4-related
Review for gene: THAP4 was set to RED
Added comment: Single individual reported with missense variant in a CPAM cohort.
Sources: Literature
Fetal anomalies v1.432 ALDH1B1 Zornitza Stark Marked gene: ALDH1B1 as ready
Fetal anomalies v1.432 ALDH1B1 Zornitza Stark Gene: aldh1b1 has been classified as Red List (Low Evidence).
Fetal anomalies v1.432 ALDH1B1 Zornitza Stark gene: ALDH1B1 was added
gene: ALDH1B1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ALDH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALDH1B1 were set to 40988636
Phenotypes for gene: ALDH1B1 were set to Congenital pulmonary airway malformation, MONDO:0016580, ALDH1B1-related
Review for gene: ALDH1B1 was set to RED
Added comment: Missense variant reported in a CPAM cohort.
Sources: Literature
Fetal anomalies v1.431 MUC3A Zornitza Stark Publications for gene: MUC3A were set to
Fetal anomalies v1.430 MUC3A Zornitza Stark edited their review of gene: MUC3A: Changed publications: 40949908
Fetal anomalies v1.430 MUC3A Zornitza Stark Marked gene: MUC3A as ready
Fetal anomalies v1.430 MUC3A Zornitza Stark Gene: muc3a has been classified as Red List (Low Evidence).
Fetal anomalies v1.430 MUC3A Zornitza Stark gene: MUC3A was added
gene: MUC3A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MUC3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MUC3A were set to Congenital pulmonary airway malformation, MONDO:0016580, MUC3A-related
Review for gene: MUC3A was set to RED
Added comment: Three individuals with LoF variants identified in a CPAM cohort. However, all three variants are present in gnomAD, one of them in over 1500 individuals.
Sources: Literature
Fetal anomalies v1.429 DMRT2 Krithika Murali Classified gene: DMRT2 as Green List (high evidence)
Fetal anomalies v1.429 DMRT2 Krithika Murali Gene: dmrt2 has been classified as Green List (High Evidence).
Fetal anomalies v1.428 DMRT2 Krithika Murali Marked gene: DMRT2 as ready
Fetal anomalies v1.428 DMRT2 Krithika Murali Gene: dmrt2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.428 DMRT2 Krithika Murali Classified gene: DMRT2 as Amber List (moderate evidence)
Fetal anomalies v1.428 DMRT2 Krithika Murali Gene: dmrt2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.427 DMRT2 Krithika Murali gene: DMRT2 was added
gene: DMRT2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMRT2 were set to PMID: 41014130; 29681102; 16387292
Phenotypes for gene: DMRT2 were set to skeletal dysplasia MONDO:0018230; DMRT2-related
Review for gene: DMRT2 was set to AMBER
Added comment: Severe skeletal manifestations with respiratory insufficiency is the overlapping feature between the 2 unrelated patients reported and mouse model.

Prenatal features included severe polyhydramnios, increased nuchal translucency, IUGR, fetal skeletal dysplasia.
Sources: Literature
Fetal anomalies v1.426 B9D1 Zornitza Stark Phenotypes for gene: B9D1 were changed from Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Meckel syndrome 9, OMIM:614209; Joubert syndrome 27, MONDO:0014927 to Ciliopathy, MONDO:0005308, B9D1-related
Fetal anomalies v1.425 B9D1 Zornitza Stark edited their review of gene: B9D1: Changed phenotypes: Ciliopathy, MONDO:0005308, B9D1-related
Fetal anomalies v1.425 RASA2 Zornitza Stark Phenotypes for gene: RASA2 were changed from Noonan syndrome to Noonan syndrome MONDO:0018997, RASA2-related
Fetal anomalies v1.424 RASA2 Zornitza Stark reviewed gene: RASA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome MONDO:0018997, RASA2-related; Mode of inheritance: None
Fetal anomalies v1.424 RAC1 Zornitza Stark Phenotypes for gene: RAC1 were changed from Mental retardation, autosomal dominant 48, MIM# 617751 to Intellectual developmental disorder, autosomal dominant 48 MIM#617751
Fetal anomalies v1.423 RAC1 Zornitza Stark edited their review of gene: RAC1: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 48 MIM#617751
Fetal anomalies v1.423 PJA1 Zornitza Stark Phenotypes for gene: PJA1 were changed from Trigonocephaly, intellectual disability to X-linked complex neurodevelopmental disorder, PJA1-related, MONDO:0100148
Fetal anomalies v1.422 PJA1 Zornitza Stark reviewed gene: PJA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: X-linked complex neurodevelopmental disorder, PJA1-related, MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.422 NDE1 Zornitza Stark Phenotypes for gene: NDE1 were changed from Lissencephaly 4 (with microcephaly), MIM# 614019; MONDO:0013527; Microhydranencephaly, MIM# 605013; MONDO:0011504 to Microcephaly with lissencephaly and/or hydranencephaly, MONDO:0700116
Fetal anomalies v1.421 NDE1 Zornitza Stark edited their review of gene: NDE1: Changed phenotypes: Microcephaly with lissencephaly and/or hydranencephaly, MONDO:0700116
Fetal anomalies v1.421 DNAH6 Chirag Patel Classified gene: DNAH6 as Red List (low evidence)
Fetal anomalies v1.421 DNAH6 Chirag Patel Gene: dnah6 has been classified as Red List (Low Evidence).
Fetal anomalies v1.420 DNAH6 Chirag Patel reviewed gene: DNAH6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.420 CDK5 Zornitza Stark Publications for gene: CDK5 were set to 25560765; 32273484; 32097629; 28854363; 7490100
Fetal anomalies v1.419 CDK5 Zornitza Stark Classified gene: CDK5 as Green List (high evidence)
Fetal anomalies v1.419 CDK5 Zornitza Stark Gene: cdk5 has been classified as Green List (High Evidence).
Fetal anomalies v1.418 CDK5 Zornitza Stark edited their review of gene: CDK5: Added comment: PMID: 40186457 (2025) - Homozygous missense variant c.149G>A (p.Arg50Gln) in an infant with diffuse agyria, cerebellar hypoplasia, agenesis of the corpus callosum, refractory seizures, pyramidal signs, microcephaly, and growth failure. The disease course and severity were similar to those observed in the patients in the first report. Functional studies support deleterious effect of the variant.; Changed rating: GREEN; Changed publications: 25560765, 32273484, 32097629, 28854363, 7490100, 40186457
Fetal anomalies v1.418 TRIM71 Elena Savva Phenotypes for gene: TRIM71 were changed from Hydrocephalus, congenital communicating, 1 - #618667 to Congenital hydrocephalus 4 (MIM#618667)
Fetal anomalies v1.417 COL4A3BP Elena Savva Phenotypes for gene: COL4A3BP were changed from Mental retardation, autosomal dominant 34, MIM# 616351 to Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351)
Fetal anomalies v1.416 PTCH1 Zornitza Stark Phenotypes for gene: PTCH1 were changed from Holoprosencephaly 7, MIM# 610828 to Holoprosencephaly 7, MIM# 610828; Exstrophy-epispadias complex MONDO:0017919, PTCH1-related
Fetal anomalies v1.415 SNAPIN Zornitza Stark Marked gene: SNAPIN as ready
Fetal anomalies v1.415 SNAPIN Zornitza Stark Gene: snapin has been classified as Green List (High Evidence).
Fetal anomalies v1.415 SNAPIN Zornitza Stark Classified gene: SNAPIN as Green List (high evidence)
Fetal anomalies v1.415 SNAPIN Zornitza Stark Gene: snapin has been classified as Green List (High Evidence).
Fetal anomalies v1.414 SNAPIN Lucy Spencer gene: SNAPIN was added
gene: SNAPIN was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SNAPIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAPIN were set to 40930097; 26539891
Phenotypes for gene: SNAPIN were set to Neurodevelopmental disorder (MONDO:0700092), SNAPIN-related
Review for gene: SNAPIN was set to GREEN
Added comment: PMID: 40930097 6 patients from 5 families with neuroanatomical, craniofacial, and skeletal anomalies on prenatal ultrasound/MRI, all homozygous for variants in SNAPIN. 2 stopgain, 1 canonical splice, 5 missense. common phenotypes: ventriculomegaly 5/6, cerebellar hypoplasia/atrophy 5/6, clubfeet 4/6, corpus callosum agenesis 4/6, flexion contractures 4/6, microcephaly 3/6, micrognathia/retrognathia 4/6. The patients with the nonsense or splice variants did not survive the perinatal period, while those with missense survived into early childhood.

This paper also mentions a 7th patient reported in PMID: 26539891, who has ID, microcephaly, cortical atrophy, bulbar and cerebellar hypoplasia, sensorineural polyneuropathy, and hypotonia. They are homozygous for a missense variant Asn55Tyr. Of note, the other paper report this as Arg55Trp and one of their patients also has this variant, based off the transcript information provided in both papers Arg55Trp is correct.
Sources: Literature
Fetal anomalies v1.414 PATJ Zornitza Stark Marked gene: PATJ as ready
Fetal anomalies v1.414 PATJ Zornitza Stark Gene: patj has been classified as Red List (Low Evidence).
Fetal anomalies v1.414 PATJ Zornitza Stark gene: PATJ was added
gene: PATJ was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PATJ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PATJ were set to 40931526
Phenotypes for gene: PATJ were set to Ciliopathy, MONDO:0005308, PATJ-related
Review for gene: PATJ was set to RED
Added comment: PATJ encodes PALS1-associated tight junction protein.

PMID: 40931526 describes 1 affected fetus with hydrocephalus and polycystic kidney disease with a homozygous NMD predicted variant.

Some supportive zebrafish functional data.

Homozygous NMD predicted variants are rare in gnomAD v4.
Sources: Literature
Fetal anomalies v1.413 DHRS3 Zornitza Stark Marked gene: DHRS3 as ready
Fetal anomalies v1.413 DHRS3 Zornitza Stark Gene: dhrs3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.413 DHRS3 Zornitza Stark Classified gene: DHRS3 as Amber List (moderate evidence)
Fetal anomalies v1.413 DHRS3 Zornitza Stark Gene: dhrs3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.412 DHRS3 Zornitza Stark gene: DHRS3 was added
gene: DHRS3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DHRS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHRS3 were set to 40519748
Phenotypes for gene: DHRS3 were set to Syndromic disease, MONDO:0002254, DHRS3-related
Review for gene: DHRS3 was set to AMBER
Added comment: Five homozygotes from 3 families (1 family segregating a deletion of the promoter and 5'-untranslated region of DHRS3, the other 2 a missense variant p.(Val171Met)), manifested a congruent phenotype, including coronal craniosynostosis, dysmorphic facial features, congenital heart disease (4/5 individuals), and scoliosis (5/5 individuals). Transcription of DHRS3 in whole blood cells from 2 homozygotes for the promoter/5'-untranslated region deletion was 90% to 98% reduced. Cells transfected with a DHRS3-Val171Met construct exhibited reduced retinaldehyde reduction capacity compared with wild-type, yielding reduced retinol and elevated RA; correspondingly, plasma from homozygous patients had significantly reduced retinol and elevated RA (exceeding the normal range), compared with controls and heterozygous relatives.

Three additional homozygous missense variants of DHRS3 (p.(Val110Ile), p.(Gly115Asp), and p.(Glu244Gln)) were shown to reduce catalytic activity in vitro and/or in vivo but were associated with normal or different phenotypes that did not meet the threshold to assign likely pathogenicity.
Sources: Literature
Fetal anomalies v1.411 PIH1D3 Zornitza Stark Tag new gene name tag was added to gene: PIH1D3.
Fetal anomalies v1.411 RSG1 Zornitza Stark Marked gene: RSG1 as ready
Fetal anomalies v1.411 RSG1 Zornitza Stark Gene: rsg1 has been classified as Green List (High Evidence).
Fetal anomalies v1.411 RSG1 Zornitza Stark Classified gene: RSG1 as Green List (high evidence)
Fetal anomalies v1.411 RSG1 Zornitza Stark Gene: rsg1 has been classified as Green List (High Evidence).
Fetal anomalies v1.410 TMBIM4 Zornitza Stark Classified gene: TMBIM4 as Red List (low evidence)
Fetal anomalies v1.410 TMBIM4 Zornitza Stark Gene: tmbim4 has been classified as Red List (Low Evidence).
Fetal anomalies v1.409 TMBIM4 Zornitza Stark edited their review of gene: TMBIM4: Changed rating: RED
Fetal anomalies v1.409 RSG1 Zornitza Stark Classified gene: RSG1 as Green List (high evidence)
Fetal anomalies v1.409 RSG1 Zornitza Stark Gene: rsg1 has been classified as Green List (High Evidence).
Fetal anomalies v1.408 RSG1 Zornitza Stark gene: RSG1 was added
gene: RSG1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RSG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSG1 were set to 40593758
Phenotypes for gene: RSG1 were set to Ciliopathy, MONDO:0005308, RSG1-related
Review for gene: RSG1 was set to GREEN
Added comment: Three individuals from unrelated families reported with bi-allelic variants and displaying cleft palate, tongue lobulations and polydactyly, phenotypes characteristic of Oral-Facial-Digital Syndrome. Variants were shown to disrupt two vital steps of ciliogenesis, basal body docking and recruitment of intraflagellar transport proteins.
Sources: Literature
Fetal anomalies v1.407 TMBIM4 Zornitza Stark Marked gene: TMBIM4 as ready
Fetal anomalies v1.407 TMBIM4 Zornitza Stark Gene: tmbim4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.407 TMBIM4 Zornitza Stark Classified gene: TMBIM4 as Amber List (moderate evidence)
Fetal anomalies v1.407 TMBIM4 Zornitza Stark Gene: tmbim4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.406 TMBIM4 Zornitza Stark gene: TMBIM4 was added
gene: TMBIM4 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TMBIM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMBIM4 were set to 40744297; 21282601; 28991257
Phenotypes for gene: TMBIM4 were set to Visceral heterotaxy MONDO:0018677, TMBIM4-related
Review for gene: TMBIM4 was set to AMBER
Added comment: Rare deleterious variants enriched in CHD cohorts, supportive functional data.
Sources: Literature
Fetal anomalies v1.405 TMEM17 Zornitza Stark Publications for gene: TMEM17 were set to Pre-print: Clinical Genetics, 2025; 0:1–7
Fetal anomalies v1.404 TMEM17 Zornitza Stark reviewed gene: TMEM17: Rating: AMBER; Mode of pathogenicity: None; Publications: 40841990; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.404 DAW1 Zornitza Stark Marked gene: DAW1 as ready
Fetal anomalies v1.404 DAW1 Zornitza Stark Gene: daw1 has been classified as Green List (High Evidence).
Fetal anomalies v1.404 DAW1 Zornitza Stark Classified gene: DAW1 as Green List (high evidence)
Fetal anomalies v1.404 DAW1 Zornitza Stark Gene: daw1 has been classified as Green List (High Evidence).
Fetal anomalies v1.403 DAW1 Zornitza Stark gene: DAW1 was added
gene: DAW1 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DAW1 were set to Primary ciliary dyskinesia, with or without heterotaxy, MIM#620570
Review for gene: DAW1 was set to GREEN
Added comment: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterotaxy phenotype.
Sources: Expert Review
Fetal anomalies v1.402 ISPD Zornitza Stark Marked gene: ISPD as ready
Fetal anomalies v1.402 ISPD Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is CRPPA.
Fetal anomalies v1.402 ISPD Zornitza Stark Gene: ispd has been classified as Green List (High Evidence).
Fetal anomalies v1.402 ISPD Zornitza Stark Tag new gene name tag was added to gene: ISPD.
Fetal anomalies v1.402 TRAP1 Zornitza Stark Phenotypes for gene: TRAP1 were changed from VACTERL; CAKUT to Syndromic disease, MONDO:0002254, TRAP1-related
Fetal anomalies v1.401 TRAP1 Zornitza Stark edited their review of gene: TRAP1: Changed phenotypes: Syndromic disease, MONDO:0002254, TRAP1-related
Fetal anomalies v1.401 TP63 Zornitza Stark Phenotypes for gene: TP63 were changed from ADULT syndrome, OMIM #103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292; Hay-Wells syndrome, OMIM #106260; Limb-mammary syndrome, OMIM #603543; Orofacial cleft 8, OMIM #618149; Rapp-Hodgkin syndrome, OMIM #129400; Split-hand/foot malformation 4, OMIM #605289 to TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001
Fetal anomalies v1.400 TP63 Zornitza Stark edited their review of gene: TP63: Changed phenotypes: TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001
Fetal anomalies v1.400 BORCS5 Zornitza Stark Marked gene: BORCS5 as ready
Fetal anomalies v1.400 BORCS5 Zornitza Stark Gene: borcs5 has been classified as Green List (High Evidence).
Fetal anomalies v1.400 BORCS5 Zornitza Stark Classified gene: BORCS5 as Green List (high evidence)
Fetal anomalies v1.400 BORCS5 Zornitza Stark Gene: borcs5 has been classified as Green List (High Evidence).
Fetal anomalies v1.399 BORCS5 Zornitza Stark gene: BORCS5 was added
gene: BORCS5 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS5 were set to 40385417
Phenotypes for gene: BORCS5 were set to Lysosomal storage disease, MONDO:0002561, BORCS5-related
Review for gene: BORCS5 was set to GREEN
Added comment: preprint PMID 40385417, describing 12 individuals from 7 families with a spectrum of abnormalities (osteopetrosis not mentioned), suggestive of lysosomal disorder.

Homozygous loss-of-function variants presented with prenatally lethal arthrogryposis multiplex congenita, brain malformations, and neuropathological evidence of diffuse neuroaxonal dystrophy. Individuals with missense variants presented differently, with microcephaly, developmental epileptic encephalopathy, intellectual disability, optic atrophy, spasticity, and progressive movement disorders. In this group, brain MRI showed diffuse hypomyelination and progressive global cerebral atrophy, consistent with neurodegeneration. Borcs5 knockout in zebrafish exhibited microcephaly, motor deficits, and seizures, mirroring the patients' clinical presentation. At the cellular level, BORCS5 loss-of-function but not missense variants, resulted in lower protein expression and impaired BORC assembly, paralleled by perinuclear lysosomal clustering. However, both loss-of-function and missense BORCS5 variants were associated with reduced total lysosomal proteolysis, reduced activity of the lysosomal hydrolases glucocerebrosidase and cathepsin B, and presence of multilamellar bodies, indicating lysosomal dysfunction.
Sources: Literature
Fetal anomalies v1.398 TAF13 Zornitza Stark Phenotypes for gene: TAF13 were changed from Mental retardation, autosomal recessive 60, MIM# 617432; Microcephaly to Intellectual developmental disorder, autosomal recessive 60, MIM# 617432
Fetal anomalies v1.397 TAF13 Zornitza Stark Publications for gene: TAF13 were set to 28257693
Fetal anomalies v1.396 TAF13 Zornitza Stark edited their review of gene: TAF13: Added comment: Two more families reported, but with same homozygous missense variant as previous, c.119T>A p.Met40Lys, suggestive of founder effect. In addition to ID and microcephaly, DSD reported, which may also be relevant to this panel.; Changed publications: 28257693, 40679298; Changed phenotypes: Intellectual developmental disorder, autosomal recessive 60, MIM# 617432
Fetal anomalies v1.396 SRGAP1 Zornitza Stark Phenotypes for gene: SRGAP1 were changed from congenital anomalies of the kidney and urinary tract to CAKUT, MONDO:0019719, SRGAP1-related
Fetal anomalies v1.395 SRGAP1 Zornitza Stark reviewed gene: SRGAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: CAKUT, MONDO:0019719, SRGAP1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.395 SLIT3 Zornitza Stark Phenotypes for gene: SLIT3 were changed from Congenital diaphragmatic hernia to Congenital diaphragmatic hernia MONDO:0005711, SLIT3-related
Fetal anomalies v1.394 SLIT3 Zornitza Stark reviewed gene: SLIT3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital diaphragmatic hernia MONDO:0005711, SLIT3-related; Mode of inheritance: None
Fetal anomalies v1.394 SLIT2 Zornitza Stark Phenotypes for gene: SLIT2 were changed from CAKUT; vesicoureteric reflux to CAKUT MONDO:0019719, SLIT2-related
Fetal anomalies v1.393 SLIT2 Zornitza Stark reviewed gene: SLIT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: CAKUT MONDO:0019719, SLIT2-related; Mode of inheritance: None
Fetal anomalies v1.393 SLC6A17 Zornitza Stark Phenotypes for gene: SLC6A17 were changed from Mental retardation, autosomal recessive 48, MIM# 616269 to Intellectual developmental disorder, autosomal recessive 48, MIM# 616269
Fetal anomalies v1.392 TBC1D32 Zornitza Stark Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome type IX, MIM#258865 to Alsahan-Harris syndrome, MIM#621307; Orofaciodigital syndrome type IX, MIM#258865
Fetal anomalies v1.391 TBC1D32 Zornitza Stark Publications for gene: TBC1D32 were set to 24285566; 32573025; 32060556; 31130284; 36826837; 40319332
Fetal anomalies v1.390 TBC1D32 Zornitza Stark edited their review of gene: TBC1D32: Changed publications: 31130284, 32573025, 36826837, 24285566, 32060556, 31130284, 39930170, 36826837, 40319332
Fetal anomalies v1.390 TBC1D32 Zornitza Stark edited their review of gene: TBC1D32: Changed phenotypes: Alsahan-Harris syndrome, MIM#621307, Orofaciodigital syndrome type IX, MIM#258865
Fetal anomalies v1.390 TBC1D32 Zornitza Stark edited their review of gene: TBC1D32: Added comment: In addition, 6 fetuses from 5 unrelated families reported with a very severe fetal phenotype, characterised by severe brain defects, including holoprosencephaly and anencephaly, and ocular defects including microphthalmia/anophthalmia and cyclopia. This has been given a separate MIM by OMIM but more likely represents the severe end of the spectrum of a broader ciliopathy phenotype.; Changed publications: 31130284, 32573025, 36826837; Changed phenotypes: Alsahan-Harris syndrome, MIM#621307
Fetal anomalies v1.390 TBC1D32 Zornitza Stark Phenotypes for gene: TBC1D32 were changed from Orofacial digital syndrome type IX to Orofaciodigital syndrome type IX, MIM#258865
Fetal anomalies v1.389 TBC1D32 Zornitza Stark Publications for gene: TBC1D32 were set to 32573025; 32060556; 31130284
Fetal anomalies v1.388 TBC1D32 Zornitza Stark edited their review of gene: TBC1D32: Added comment: PMIDs 36826837 and 40319332: four more individuals reported with OFD phenotype.; Changed publications: 24285566, 32573025, 32060556, 31130284, 36826837, 40319332; Changed phenotypes: Orofaciodigital syndrome type IX, MIM#258865
Fetal anomalies v1.388 HYLS1 Chirag Patel reviewed gene: HYLS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrolethalus syndrome MONDO:0006037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.388 NR6A1 Zornitza Stark Phenotypes for gene: NR6A1 were changed from Syndromic disease, MONDO:0002254, NR6A1-related to Oculovertebral syndrome, MIM# 621277
Fetal anomalies v1.387 NR6A1 Zornitza Stark edited their review of gene: NR6A1: Changed phenotypes: Oculovertebral syndrome, MIM# 621277
Fetal anomalies v1.387 TMEM17 Zornitza Stark Marked gene: TMEM17 as ready
Fetal anomalies v1.387 TMEM17 Zornitza Stark Gene: tmem17 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.387 FRYL Zornitza Stark Classified gene: FRYL as Amber List (moderate evidence)
Fetal anomalies v1.387 FRYL Zornitza Stark Gene: fryl has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.386 FRYL Zornitza Stark edited their review of gene: FRYL: Added comment: Published literature re-reviewed:
A number of variants reported in currently published gene discovery paper were not absent in gnomAD v4.

Loss of function is the proposed mechanism of disease however too many NMD predicted variants throughout the gene in gnomAD v4 to be consistent with rare disease.

Functional studies performed in drosophila using FRY orthologue, however, humans have two paralogous genes - FRY and FRYL. As such, difficult to translate this model to implications in human disease or even judge to what extent it recapitulates the human phenotype.

Note multiple isoforms for FRYL however no clear paucity of NMD predicted variants in the population within one region of the gene.

Requires further literature to establish gene disease association.; Changed rating: AMBER
Fetal anomalies v1.386 TMEM17 Chirag Patel Classified gene: TMEM17 as Amber List (moderate evidence)
Fetal anomalies v1.386 TMEM17 Chirag Patel Gene: tmem17 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.385 TMEM17 Chirag Patel gene: TMEM17 was added
gene: TMEM17 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TMEM17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM17 were set to Pre-print: Clinical Genetics, 2025; 0:1–7
Phenotypes for gene: TMEM17 were set to Meckel syndrome MONDO:0018921; TMEM17-related
Review for gene: TMEM17 was set to AMBER
Added comment: 4 fetuses (TOP/deceased) from 4 consanguineous unrelated families with a clinical diagnosis of Meckel-Gruber syndrome. Clinical features includes: encephalocele (4/4), enlarged/cystic kidneys (4/4), and postaxial polydactyly (1/4). WES identified 3 homozygous variants (p.(Glu2Serfs*58); p.(Pro123Thrfs*9); and p.(Pro123Arg)).

They also reported a 5th consanguineous family with 3 affected fetuses with clinical diagnosis of Meckel-Gruber syndrome. Both parents were heterozygote carriers of a TMEM17 variant (p.(Glu2Serfs*58)) but biological material from the fetuses was not available.

No functional studies performed. However, TMEM17 is a critical component of a protein complex in the basal body at the base of cilia. Knockdown of Tmem17 via small interfering RNA has been shown to have a modest effect on cilia formation, but significantly reduces the amount of the somatostatin receptor Sstr3 (182453) that localizes to cilia.
Sources: Literature
Fetal anomalies v1.384 PDCD6IP Zornitza Stark Publications for gene: PDCD6IP were set to 32286682
Fetal anomalies v1.383 PDCD6IP Zornitza Stark Classified gene: PDCD6IP as Green List (high evidence)
Fetal anomalies v1.383 PDCD6IP Zornitza Stark Gene: pdcd6ip has been classified as Green List (High Evidence).
Fetal anomalies v1.382 PDCD6IP Zornitza Stark edited their review of gene: PDCD6IP: Added comment: Additional individual with homozygous truncating variant, mild ID, microcephaly and mild thrombocytopenia.
p.Arg322* - present in gnomAD (NFE AF - 0.0006%).; Changed rating: GREEN; Changed publications: https://doi.org/10.1111/cge.70025
Fetal anomalies v1.382 SMAD5 Zornitza Stark Marked gene: SMAD5 as ready
Fetal anomalies v1.382 SMAD5 Zornitza Stark Gene: smad5 has been classified as Green List (High Evidence).
Fetal anomalies v1.382 SMAD5 Zornitza Stark Classified gene: SMAD5 as Green List (high evidence)
Fetal anomalies v1.382 SMAD5 Zornitza Stark Gene: smad5 has been classified as Green List (High Evidence).
Fetal anomalies v1.381 SMAD5 Zornitza Stark gene: SMAD5 was added
gene: SMAD5 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SMAD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD5 were set to 40619738
Phenotypes for gene: SMAD5 were set to Congenital heart disease, MONDO:0005453, SMAD5-related
Review for gene: SMAD5 was set to GREEN
Added comment: SMAD5 encodes a transcriptional regulator that functions within the TGF-b signalling cascade. Animal studies show this protein is crucial for dorsoventral patterning, left/right asymmetry, cardiac looping.

7 affected individuals from 6 families described in PMID: 40619738 with congenital heart disease (ASD, VSD, hypoplastic left heart). 4 cases had de novo variants in SMAD5 with some cases having inheritance from presumably unaffected parents (however parents weren't formally assessed). All variants absent from gnomAD v4.

Supportive functional studies with transfection of variants into HEK293T cells showing reduced SMAD5 levels and luciferase promoter assay showing reduced promoter activity of downstream targets with rescue upon introduction of WT SMAD5. LOF mechanism proposed. Variants were missense/nonsense/frameshift/large del.

One individual presented with a more severe multi system phenotype including tetralogy of fallot, craniofacial/urogenital/renal/limb/vertebral anomalies with a variant that was proposed to act in a dominant negative manner. NM_005903.7(SMAD5):c.1289C>T|p.Thr430Ile. Functional studies performed supported this proposed mechanism.
Sources: Literature
Fetal anomalies v1.380 NR6A1 Zornitza Stark Marked gene: NR6A1 as ready
Fetal anomalies v1.380 NR6A1 Zornitza Stark Gene: nr6a1 has been classified as Green List (High Evidence).
Fetal anomalies v1.380 NR6A1 Zornitza Stark Classified gene: NR6A1 as Green List (high evidence)
Fetal anomalies v1.380 NR6A1 Zornitza Stark Gene: nr6a1 has been classified as Green List (High Evidence).
Fetal anomalies v1.379 NR6A1 Zornitza Stark gene: NR6A1 was added
gene: NR6A1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NR6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR6A1 were set to 39606382
Phenotypes for gene: NR6A1 were set to Syndromic disease, MONDO:0002254, NR6A1-related
Review for gene: NR6A1 was set to GREEN
Added comment: 6 unrelated families with heterozygous rare variants (missense, nonsense, frameshift, or large deletion) with incomplete penetrance and variable expressivity. Colobomatous microphthalmia, missing vertebrae and congenital kidney abnormalities characterised the phenotype of the families. Also, supporting zebrafish model. Loss of function is the expected mechanism of disease.
Sources: Literature
Fetal anomalies v1.378 FAAP100 Zornitza Stark Phenotypes for gene: FAAP100 were changed from Fanconi anaemia, MONDO:0019391, FAAP100-related to Fanconi anaemia, complementation group X, MIM# 621258
Fetal anomalies v1.377 FAAP100 Zornitza Stark edited their review of gene: FAAP100: Changed phenotypes: Fanconi anaemia, complementation group X, MIM# 621258
Fetal anomalies v1.377 WDR91 Bryony Thompson Phenotypes for gene: WDR91 were changed from Hydrocephaly; Hygroma to Complex neurodevelopmental disorder MONDO:0100038
Fetal anomalies v1.376 WDR91 Bryony Thompson Publications for gene: WDR91 were set to 32732226; 34028500; 28860274
Fetal anomalies v1.375 WDR91 Bryony Thompson Classified gene: WDR91 as Green List (high evidence)
Fetal anomalies v1.375 WDR91 Bryony Thompson Gene: wdr91 has been classified as Green List (High Evidence).
Fetal anomalies v1.374 WDR91 Bryony Thompson reviewed gene: WDR91: Rating: GREEN; Mode of pathogenicity: None; Publications: 32732226, 38041506, 34791078, 40550703, 28860274, 34028500, ClinVar: SCV000965687.1; Phenotypes: Complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.374 MIB1 Zornitza Stark Classified gene: MIB1 as Red List (low evidence)
Fetal anomalies v1.374 MIB1 Zornitza Stark Gene: mib1 has been classified as Red List (Low Evidence).
Fetal anomalies v1.373 ADD1 Zornitza Stark Classified gene: ADD1 as Amber List (moderate evidence)
Fetal anomalies v1.373 ADD1 Zornitza Stark Gene: add1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.372 ADD1 Ava Stevenson reviewed gene: ADD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34906466; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.372 MIB1 Ava Stevenson reviewed gene: MIB1: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23033978, 23314057, 33057194, 30322850, 37405741, 39057643; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.372 PDCD2 Zornitza Stark Marked gene: PDCD2 as ready
Fetal anomalies v1.372 PDCD2 Zornitza Stark Gene: pdcd2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.372 PDCD2 Zornitza Stark Classified gene: PDCD2 as Amber List (moderate evidence)
Fetal anomalies v1.372 PDCD2 Zornitza Stark Gene: pdcd2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.371 PDCD2 Zornitza Stark gene: PDCD2 was added
gene: PDCD2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PDCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDCD2 were set to 40208938
Phenotypes for gene: PDCD2 were set to Non-immune hydrops fetalis, MONDO:0009369, PDCD2-related
Review for gene: PDCD2 was set to AMBER
Added comment: PMID: 40208938- Novel biallelic PDCD2 variants associated with hydrops fetalis and early pregnancy loss in two affected families. Family 1 with RPL had three fetuses with NIHF who were all homozygous for p.(Pro28Ser) in PDCD2, while Family 2 had p.(Pro28Ser) in trans with p.(Arg34Pro) in two fetuses with NIHF. Family 2 was additionally notable for having a healthy child who was homozygous for the reference allele, consistent with appropriate disease segregation with the PDCD2 variants. Functional studies using primary fetal fibroblasts and human cell lines for both variants showed reduced PDCD2 mRNA level in affected patients' fibroblasts, reduced cellular accumulation of mutant proteins with impaired ability to associate with the 40S subunit ribosomal protein uS5, and further depletion of PDCD2 in fibroblast cells severely impacted ribosome biogenesis. It is notable that formation of the PDCD2-uS5 complex was not completely abolished by the patient variants and that rRNA processing was only partially impaired, as indicated by levels of 40S pre-rRNAs. We thus suspect that the PDCD2 pathogenic variants p.(Pro28Ser) and p.(Arg34Pro) are hypomorphic alleles, with a low level of residual function allowing for cellular differentiation and growth to a certain extent.
Sources: Literature
Fetal anomalies v1.370 LDB3 Zornitza Stark reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36253531; Phenotypes: Cardiomyopathy, dilated, 2L, MIM# 621237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.370 WSB2 Krithika Murali Marked gene: WSB2 as ready
Fetal anomalies v1.370 WSB2 Krithika Murali Gene: wsb2 has been classified as Green List (High Evidence).
Fetal anomalies v1.370 WSB2 Krithika Murali Classified gene: WSB2 as Green List (high evidence)
Fetal anomalies v1.370 WSB2 Krithika Murali Gene: wsb2 has been classified as Green List (High Evidence).
Fetal anomalies v1.369 WSB2 Krithika Murali gene: WSB2 was added
gene: WSB2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WSB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WSB2 were set to PMID:40374945
Phenotypes for gene: WSB2 were set to Complex neurodevelopmental disorder, MONDO:0100038, WSB2-related
Review for gene: WSB2 was set to GREEN
Added comment: PMID: 40374945 describe 5 individuals from 4 unrelated families with biallelic WSB2 variants and a complex neurodevelopmental disorder. Phenotypic features include:
- Dev delay (all)
- Brain anomalies (4/5 including callosal anomalies and cerebellar hypoplasia)
- Dysmorphic feature
- IUGR/oligohydramnios (3/5)
- Hypotonia (all)
- Microcephaly (3/5)
- Seizures (3/5)

Includes two siblings with biallelic missense variants and shared phenotype. 3 unaffected siblings were heterozygous for the variant or hmz wt. Phenotypic features associated with hmz nonsense/fs variants were more severe than missense.

Supportive mouse model.
Sources: Literature
Fetal anomalies v1.368 RREB1 Zornitza Stark Publications for gene: RREB1 were set to 32938917; 38332451
Fetal anomalies v1.367 FAAP100 Zornitza Stark Marked gene: FAAP100 as ready
Fetal anomalies v1.367 FAAP100 Zornitza Stark Gene: faap100 has been classified as Green List (High Evidence).
Fetal anomalies v1.367 FAAP100 Zornitza Stark Classified gene: FAAP100 as Green List (high evidence)
Fetal anomalies v1.367 FAAP100 Zornitza Stark Gene: faap100 has been classified as Green List (High Evidence).
Fetal anomalies v1.366 FAAP100 Zornitza Stark gene: FAAP100 was added
gene: FAAP100 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FAAP100 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAAP100 were set to 40244696; 40232843
Phenotypes for gene: FAAP100 were set to Fanconi anaemia, MONDO:0019391, FAAP100-related
Review for gene: FAAP100 was set to GREEN
Added comment: PMID 40244696: reports two families with homozygous LoF variants. First family had 6 pregnancy losses and two infants with a severe phenotype characterised by multiple congenital anomalies. Second family had one liveborn child with multiple anomalies and a termination of pregnancy for multiple congenital anomalies. Supportive functional data. Third family reported in PMID 40232843, homozygous missense variant in a fetus with multiple congenital anomalies suggestive of FA. Functional data.
Sources: Literature
Fetal anomalies v1.365 RREB1 Chirag Patel Classified gene: RREB1 as Green List (high evidence)
Fetal anomalies v1.365 RREB1 Chirag Patel Gene: rreb1 has been classified as Green List (High Evidence).
Fetal anomalies v1.364 RREB1 Chirag Patel reviewed gene: RREB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40418122; Phenotypes: Rasopathy, MONDO:0021060, RREB1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.364 LEF1 Zornitza Stark Phenotypes for gene: LEF1 were changed from Syndromic disease, MONDO:0002254, LEF1-related to Ectodermal dysplasia 17 with or without limb malformations, MIM# 621224
Fetal anomalies v1.363 LEF1 Zornitza Stark edited their review of gene: LEF1: Changed phenotypes: Ectodermal dysplasia 17 with or without limb malformations, MIM# 621224
Fetal anomalies v1.363 GON4L Zornitza Stark Phenotypes for gene: GON4L were changed from complex neurodevelopmental disorder MONDO:0100038 to Li-Takada-Miyake syndrome, MIM# 621212
Fetal anomalies v1.362 GON4L Zornitza Stark reviewed gene: GON4L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Li-Takada-Miyake syndrome, MIM# 621212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.362 TTC26 Zornitza Stark Marked gene: TTC26 as ready
Fetal anomalies v1.362 TTC26 Zornitza Stark Gene: ttc26 has been classified as Green List (High Evidence).
Fetal anomalies v1.362 TTC26 Zornitza Stark Classified gene: TTC26 as Green List (high evidence)
Fetal anomalies v1.362 TTC26 Zornitza Stark Gene: ttc26 has been classified as Green List (High Evidence).
Fetal anomalies v1.361 TTC26 Zornitza Stark gene: TTC26 was added
gene: TTC26 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TTC26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC26 were set to 34177428; 32617964; 31595528; 24596149; 22718903
Phenotypes for gene: TTC26 were set to Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534
Review for gene: TTC26 was set to GREEN
Added comment: 9 families and functional data including zebrafish model. Multiple congenital anomalies likely identifiable by US.
Sources: Literature
Fetal anomalies v1.360 TOGARAM1 Zornitza Stark Phenotypes for gene: TOGARAM1 were changed from Cerebral dysgenesis; Cleft of the lip and palate; Hydrocephalus; Microphthalmia to Joubert syndrome 37, MIM# 619185
Fetal anomalies v1.359 TOGARAM1 Zornitza Stark Classified gene: TOGARAM1 as Green List (high evidence)
Fetal anomalies v1.359 TOGARAM1 Zornitza Stark Gene: togaram1 has been classified as Green List (High Evidence).
Fetal anomalies v1.358 TOGARAM1 Zornitza Stark edited their review of gene: TOGARAM1: Added comment: PMID 32453716: 5 unrelated individuals with Joubert syndrome.; Changed rating: GREEN; Changed publications: 32747439, 32453716; Changed phenotypes: Joubert syndrome 37, MIM# 619185
Fetal anomalies v1.358 KIF3B Zornitza Stark Marked gene: KIF3B as ready
Fetal anomalies v1.358 KIF3B Zornitza Stark Gene: kif3b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.358 KIF3B Zornitza Stark Classified gene: KIF3B as Amber List (moderate evidence)
Fetal anomalies v1.358 KIF3B Zornitza Stark Gene: kif3b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.357 KIF3B Zornitza Stark gene: KIF3B was added
gene: KIF3B was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF3B were set to 32386558; 38665936
Phenotypes for gene: KIF3B were set to Retinitis pigmentosa 89, MIM#618955; polydactyly
Review for gene: KIF3B was set to AMBER
Added comment: Two families reported with supportive functional data. Predominant phenotype is RP, however polydactyly reported, which would be detectable by US.
Sources: Literature
Fetal anomalies v1.356 IFT81 Zornitza Stark Classified gene: IFT81 as Green List (high evidence)
Fetal anomalies v1.356 IFT81 Zornitza Stark Gene: ift81 has been classified as Green List (High Evidence).
Fetal anomalies v1.355 IFT81 Zornitza Stark edited their review of gene: IFT81: Added comment: More than 5 families reported with a skeletal ciliopathy.; Changed rating: GREEN; Changed publications: 27666822, 37427975, 32783357
Fetal anomalies v1.355 FGF4 Zornitza Stark Marked gene: FGF4 as ready
Fetal anomalies v1.355 FGF4 Zornitza Stark Gene: fgf4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.355 FGF4 Zornitza Stark Classified gene: FGF4 as Amber List (moderate evidence)
Fetal anomalies v1.355 FGF4 Zornitza Stark Gene: fgf4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.354 FGF4 Zornitza Stark gene: FGF4 was added
gene: FGF4 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FGF4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGF4 were set to 40259859
Phenotypes for gene: FGF4 were set to Jeune Syndrome, FGF4-related, MONDO:0018770
Review for gene: FGF4 was set to AMBER
Added comment: Two families with three affected individuals reported with homozygous variants in FGF4.

Family 1 - Consanguineous parents with five children. Three are unaffected and two are affected with Jeune syndrome - like phenotypes. One of the affected siblings is deceased.
Proband was diagnosed with pulmonary hypoplasia at 6 months and later identified to have Jeune Syndrome due to other findings.
Homozygous p.Leu86Phe missense variant was identified (variant absent from gnomAD v4.1)

Family 2 - Non-consanguineous parents with affected son with Jeune syndrome like phenotype (pulmonary hypoplasia and thoracic dystrophy)
Homozygous p.Pro204His missense variant was identified (variant absent from gnomAD v4.1)
Sources: Literature
Fetal anomalies v1.353 DCDC2 Zornitza Stark Publications for gene: DCDC2 were set to 25557784; 31821705
Fetal anomalies v1.352 DCDC2 Zornitza Stark Classified gene: DCDC2 as Green List (high evidence)
Fetal anomalies v1.352 DCDC2 Zornitza Stark Gene: dcdc2 has been classified as Green List (High Evidence).
Fetal anomalies v1.351 DCDC2 Zornitza Stark edited their review of gene: DCDC2: Added comment: DEFINITIVE by ClinGen.; Changed rating: GREEN; Changed publications: 27469900, 25557784, 31821705
Fetal anomalies v1.351 CEP76 Zornitza Stark Marked gene: CEP76 as ready
Fetal anomalies v1.351 CEP76 Zornitza Stark Gene: cep76 has been classified as Green List (High Evidence).
Fetal anomalies v1.351 CEP76 Zornitza Stark Classified gene: CEP76 as Green List (high evidence)
Fetal anomalies v1.351 CEP76 Zornitza Stark Gene: cep76 has been classified as Green List (High Evidence).
Fetal anomalies v1.350 CEP76 Zornitza Stark gene: CEP76 was added
gene: CEP76 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CEP76 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP76 were set to complex neurodevelopmental disorder MONDO:0100038
Review for gene: CEP76 was set to GREEN
Added comment: Erica Davis, Stanley Manne Children’s research institute, Chicago
ESHG presentation 4/6/24, unpublished

CEP76 associated with syndromic ciliopathy

CEP76 localizes to centrioles and basal body primary cilia
Role in normal centriolar duplication

Index case
Bardet Biedl syndrome
Compound heterozygous pLoF variants in CEP76

Via Gene matcher
7 cases in 7 families- biallelic CEP76 and various clinical features within ciliopathy spectrum:
Obesity
Ocular phenotype
Structural brain anomalies
Renal?

3/7 families clinical Dx Joubert syndrome
1/7 BBS
1/7 GDD/ID NOS
2/7 retinitis pigmentosa (1 of these with learning difficulties)

Mixture of biallelic pLOF and missense variant

CEP76 knockout zebrafish model shows retinal phenotype w photoreceptor loss, similar to homozygous known BBS4 pathogenic variant

Cell based fx studies with missense variants above, consistent with centriolar duplication dysfunction
Sources: Literature
Fetal anomalies v1.349 CCDC32 Zornitza Stark Marked gene: CCDC32 as ready
Fetal anomalies v1.349 CCDC32 Zornitza Stark Gene: ccdc32 has been classified as Green List (High Evidence).
Fetal anomalies v1.349 CCDC32 Zornitza Stark Classified gene: CCDC32 as Green List (high evidence)
Fetal anomalies v1.349 CCDC32 Zornitza Stark Gene: ccdc32 has been classified as Green List (High Evidence).
Fetal anomalies v1.348 CCDC32 Zornitza Stark gene: CCDC32 was added
gene: CCDC32 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CCDC32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC32 were set to 32307552
Phenotypes for gene: CCDC32 were set to Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123
Review for gene: CCDC32 was set to GREEN
Added comment: Two unrelated consanguineous families with probands with homozygous frameshift variants reported. Phenotype is a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies. Functional studies in zebrafish show that ccdc32 depletion impairs cilia formation and shows a role for ccdc32 in craniofacial, brain and left/right axis development.
Sources: Literature
Fetal anomalies v1.347 CBY1 Zornitza Stark Marked gene: CBY1 as ready
Fetal anomalies v1.347 CBY1 Zornitza Stark Gene: cby1 has been classified as Green List (High Evidence).
Fetal anomalies v1.347 CBY1 Zornitza Stark Classified gene: CBY1 as Green List (high evidence)
Fetal anomalies v1.347 CBY1 Zornitza Stark Gene: cby1 has been classified as Green List (High Evidence).
Fetal anomalies v1.346 CBY1 Zornitza Stark gene: CBY1 was added
gene: CBY1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBY1 were set to 33131181; 25103236; 25220153
Phenotypes for gene: CBY1 were set to Joubert syndrome, MONDO:0018772, CBY1-related
Review for gene: CBY1 was set to GREEN
Added comment: Two unrelated consanguineous families with LoF variants and multiple animal models.
Sources: Literature
Fetal anomalies v1.345 ADAMTS9 Zornitza Stark Marked gene: ADAMTS9 as ready
Fetal anomalies v1.345 ADAMTS9 Zornitza Stark Gene: adamts9 has been classified as Red List (Low Evidence).
Fetal anomalies v1.345 ADAMTS9 Zornitza Stark gene: ADAMTS9 was added
gene: ADAMTS9 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS9 were set to 30609407
Phenotypes for gene: ADAMTS9 were set to Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related
Review for gene: ADAMTS9 was set to RED
Added comment: LIMITED by ClinGen, several families reported with bi-allelic variants and variable features of a ciliopathy. However, evidence presented deemed of poor quality due to a variety of factors. RED on this panel.
Sources: Literature
Fetal anomalies v1.344 BBIP1 Zornitza Stark Marked gene: BBIP1 as ready
Fetal anomalies v1.344 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Green List (High Evidence).
Fetal anomalies v1.344 BBIP1 Zornitza Stark Classified gene: BBIP1 as Green List (high evidence)
Fetal anomalies v1.344 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Green List (High Evidence).
Fetal anomalies v1.343 BBIP1 Zornitza Stark gene: BBIP1 was added
gene: BBIP1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBIP1 were set to 24026985; 32055034; 37239474
Phenotypes for gene: BBIP1 were set to Bardet-Biedl syndrome 18, MIM#615995
Review for gene: BBIP1 was set to GREEN
Added comment: PMID: 24026985 - Single patient with BBS described with bi-allelic variants in this gene.

PMID: 32055034 - An additional patient with classic BBS with a homozygous splice variant confirmed by RT-PCR to result in NMD

PMID 37239474: third family with homozygous LoF variant
Sources: Literature
Fetal anomalies v1.342 SLC30A7 Zornitza Stark Marked gene: SLC30A7 as ready
Fetal anomalies v1.342 SLC30A7 Zornitza Stark Gene: slc30a7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.342 SLC30A7 Zornitza Stark Classified gene: SLC30A7 as Amber List (moderate evidence)
Fetal anomalies v1.342 SLC30A7 Zornitza Stark Gene: slc30a7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.341 SLC30A7 Zornitza Stark gene: SLC30A7 was added
gene: SLC30A7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SLC30A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC30A7 were set to 35751429
Phenotypes for gene: SLC30A7 were set to Joubert syndrome (MONDO:0018772), SLC30A7-related
Review for gene: SLC30A7 was set to AMBER
Added comment: PMID: 35751429: Two individuals reported with de novo variants, one missense and one delins resulting in missense. The first individual is a female with history of unilateral postaxial polydactyly, classic molar tooth sign on MRI, macrocephaly, ataxia, ocular motor apraxia, neurodevelopmental delay, and precocious puberty. The second individual had bilateral postaxial polydactyly, molar tooth sign, macrocephaly, developmental delay, and an extra oral frenulum. No functional studies reported.
Sources: Literature
Fetal anomalies v1.340 SCNM1 Zornitza Stark Marked gene: SCNM1 as ready
Fetal anomalies v1.340 SCNM1 Zornitza Stark Gene: scnm1 has been classified as Green List (High Evidence).
Fetal anomalies v1.340 SCNM1 Zornitza Stark Classified gene: SCNM1 as Green List (high evidence)
Fetal anomalies v1.340 SCNM1 Zornitza Stark Gene: scnm1 has been classified as Green List (High Evidence).
Fetal anomalies v1.339 SCNM1 Zornitza Stark gene: SCNM1 was added
gene: SCNM1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCNM1 were set to 36084634
Phenotypes for gene: SCNM1 were set to Orofaciodigital syndrome XIX, MIM# 620107
Review for gene: SCNM1 was set to GREEN
Added comment: Iturrate (2022): three unrelated families (4 affected) w/ OFD, polydactyly, syndactyly and brachydactyly. All had biallelic variants (fs, missense, AluYc1 sequence insertion) and were consanguinous
- the missense variant was shown to have a splice outcome
Sources: Literature
Fetal anomalies v1.338 LEF1 Zornitza Stark Marked gene: LEF1 as ready
Fetal anomalies v1.338 LEF1 Zornitza Stark Gene: lef1 has been classified as Green List (High Evidence).
Fetal anomalies v1.338 LEF1 Zornitza Stark Classified gene: LEF1 as Green List (high evidence)
Fetal anomalies v1.338 LEF1 Zornitza Stark Gene: lef1 has been classified as Green List (High Evidence).
Fetal anomalies v1.337 LEF1 Zornitza Stark gene: LEF1 was added
gene: LEF1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: LEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LEF1 were set to 32022899; 35583550
Phenotypes for gene: LEF1 were set to Syndromic disease, MONDO:0002254, LEF1-related
Review for gene: LEF1 was set to GREEN
Added comment: Monoallelic variants in LEF1 reported in 11 affected individuals from 4 unrelated families, and a biallelic variant reported in an affected individual from a consanguineous family. The phenotypic spectrum included various limb malformations, such as radial ray defects, polydactyly or split hand/foot, and ectodermal dysplasia. Haploinsufficiency or loss of DNA binding postulated to be responsible for a mild to moderate phenotype, whereas loss of β-catenin binding caused by biallelic variants postulated to be associated with a severe phenotype.
Sources: Literature
Fetal anomalies v1.336 IFT57 Zornitza Stark Marked gene: IFT57 as ready
Fetal anomalies v1.336 IFT57 Zornitza Stark Gene: ift57 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.336 IFT57 Zornitza Stark Classified gene: IFT57 as Amber List (moderate evidence)
Fetal anomalies v1.336 IFT57 Zornitza Stark Gene: ift57 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.335 IFT57 Zornitza Stark gene: IFT57 was added
gene: IFT57 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: IFT57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT57 were set to 40273360
Phenotypes for gene: IFT57 were set to Bardet-Bield syndrome; ciliopathy - MONDO:0005308, IFT57-related
Review for gene: IFT57 was set to AMBER
Added comment: PMID:40273360 Nitoiu et al 2025 report a male with clinical features of Bardet-Biedl syndrome. Phenotypic features include:
- Vision issues - night vision loss, progressive cone-rod dystrophy leading to legal blindness
- Post-axial polydactyly
- Obesity and type 2 diabetes
- Learning difficulties
- Moderate sensorineural hearing loss

Biallelic IFT57 variants were identified on short-read genomic sequencing after negative panel-based clinical testing - NM_018010.4 (IFT57): c.1190 T>A;p.(Val397Glu) and c.675del; p.(Lys225Asnfs∗17).

Patient-derived fibroblasts had fewer primary cilia, abnormal ciliary morphology and abnormal anterograde transport in the primary cilia. IFT57 knockout mouse models did not form primary cilia. Treatment with IFT57-WT restored cilia formation while IFT57-Val397Glu only partially rescued cilia formation in Ift57-KO-mouse cells.
Sources: Literature
Fetal anomalies v1.334 WNT3 Zornitza Stark reviewed gene: WNT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tetra-amelia syndrome 1, OMIM #273395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.334 PPP2R5C Zornitza Stark Phenotypes for gene: PPP2R5C were changed from macrocephaly; overgrowth to Houge-Janssens syndrome 4, MIM# 621185
Fetal anomalies v1.333 PPP2R5C Zornitza Stark reviewed gene: PPP2R5C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Houge-Janssens syndrome 4, MIM# 621185; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.333 PLK1 Zornitza Stark Phenotypes for gene: PLK1 were changed from Epilepsy; microcephaly; intellectual disability to Neurodevelopmental disorder, PLK1-related, MONDO:0700092
Fetal anomalies v1.332 AMOTL1 Zornitza Stark Phenotypes for gene: AMOTL1 were changed from Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related to Craniofaciocardiohepatic syndrome, MIM# 621192
Fetal anomalies v1.331 AMOTL1 Zornitza Stark reviewed gene: AMOTL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofaciocardiohepatic syndrome, MIM# 621192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.331 GPKOW Zornitza Stark Publications for gene: GPKOW were set to 28612833
Fetal anomalies v1.330 GPKOW Zornitza Stark Phenotypes for gene: GPKOW were changed from male-lethal microcephaly with intrauterine growth restriction to syndromic disease, MONDO:0002254, GPKOW-related
Fetal anomalies v1.329 GPKOW Chirag Patel Classified gene: GPKOW as Green List (high evidence)
Fetal anomalies v1.329 GPKOW Chirag Patel Gene: gpkow has been classified as Green List (High Evidence).
Fetal anomalies v1.328 GPKOW Chirag Patel reviewed gene: GPKOW: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40221893, 28612833; Phenotypes: microcephaly MONDO:0001149, fetal growth restriction MONDO:0005030; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v1.328 SIRT6 Zornitza Stark Marked gene: SIRT6 as ready
Fetal anomalies v1.328 SIRT6 Zornitza Stark Gene: sirt6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.328 SIRT6 Zornitza Stark Classified gene: SIRT6 as Amber List (moderate evidence)
Fetal anomalies v1.328 SIRT6 Zornitza Stark Gene: sirt6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.327 SIRT6 Zornitza Stark gene: SIRT6 was added
gene: SIRT6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SIRT6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIRT6 were set to 29555651; 30135584
Phenotypes for gene: SIRT6 were set to syndromic disease, MONDO:0002254, SIRT6-related
Review for gene: SIRT6 was set to AMBER
Added comment: PMID:29555651 reported a family with four consecutive cases of late fetal loss at gestational ages between 17 and 35 weeks. The fetuses showed prenatal abnormalities including intrauterine growth restriction (IUGR), microcephaly, craniofacial anomalies, sex reversal in male fetuses, and congenital heart defects. A homozygous inactivating variant in SIRT6 gene (c.187G > C; p.(Asp63His)) was identified by WES in the four fetuses.

There is also functional data available from in vitro studies, SIRT6 D63H mouse embryonic stem cells and human induced pluripotent stem cells (iPSCs) derived from D63H homozygous foetuses. There is also functional evidence available from several other studies including PMID:30135584, where CRISPR-Cas9-based approach was used to generate a SIRT6-null cynomolgus monkey (Macaca fascicularis) model. SIRT6-deficient monkeys died hours after birth and exhibited severe prenatal developmental retardation.
Sources: Literature
Fetal anomalies v1.326 BRF2 Zornitza Stark Marked gene: BRF2 as ready
Fetal anomalies v1.326 BRF2 Zornitza Stark Gene: brf2 has been classified as Green List (High Evidence).
Fetal anomalies v1.326 BRF2 Zornitza Stark Classified gene: BRF2 as Green List (high evidence)
Fetal anomalies v1.326 BRF2 Zornitza Stark Gene: brf2 has been classified as Green List (High Evidence).
Fetal anomalies v1.325 BRF2 Zornitza Stark gene: BRF2 was added
gene: BRF2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: BRF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRF2 were set to 40229899
Phenotypes for gene: BRF2 were set to Syndromic disease, MONDO:0002254, BRF2-related
Review for gene: BRF2 was set to GREEN
Added comment: 7 individuals from 3 unrelated families reported. In addition, 3 Icelanding families with same recurrent splicing variant and recurrent perinatal deaths; however, affected individuals unable to be genotyped and this seems to be a founder variant. Craniofacial malformations, microcephaly and perinatal death in several individuals. Survivors had ID. Supportive functional data, including animal model.
Sources: Literature
Fetal anomalies v1.324 MYRF Zornitza Stark Phenotypes for gene: MYRF were changed from Cardiac-urogenital syndrome, MIM# 618280 to Cardiac-urogenital syndrome, MIM# 618280; Nanophthalmos 1, MIM# 600165
Fetal anomalies v1.323 MYRF Zornitza Stark Publications for gene: MYRF were set to 30985895; 30070761; 31069960; 29446546; 30532227
Fetal anomalies v1.322 MYRF Zornitza Stark edited their review of gene: MYRF: Changed publications: 29446546, 29446546, 30532227, 31069960, 31266062
Fetal anomalies v1.322 MYRF Zornitza Stark changed review comment from: Cardiac-urogenital syndrome is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism.

More than 10 unrelated individuals reported.
Sources: Expert list; to: Cardiac-urogenital syndrome is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism.

More than 10 unrelated individuals reported.

Also note association with nanophthalmos, which may also be detectable on US.
Sources: Expert list
Fetal anomalies v1.322 MYRF Zornitza Stark edited their review of gene: MYRF: Changed phenotypes: Cardiac-urogenital syndrome, MIM# 618280, Nanophthalmos 1, MIM# 600165
Fetal anomalies v1.322 ODC1 Bryony Thompson Marked gene: ODC1 as ready
Fetal anomalies v1.322 ODC1 Bryony Thompson Gene: odc1 has been classified as Green List (High Evidence).
Fetal anomalies v1.322 ODC1 Bryony Thompson Classified gene: ODC1 as Green List (high evidence)
Fetal anomalies v1.322 ODC1 Bryony Thompson Gene: odc1 has been classified as Green List (High Evidence).
Fetal anomalies v1.321 UNC50 Bryony Thompson reviewed gene: UNC50: Rating: AMBER; Mode of pathogenicity: None; Publications: 33820833, 29016857, 40219868; Phenotypes: arthrogryposis multiplex congenita MONDO:0015168, congenital myasthenic syndrome MONDO:0018940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.321 EFNA4 Bryony Thompson Publications for gene: EFNA4 were set to 29215649; 29168297; 16540516
Fetal anomalies v1.320 EFNA4 Bryony Thompson Classified gene: EFNA4 as Red List (low evidence)
Fetal anomalies v1.320 EFNA4 Bryony Thompson Gene: efna4 has been classified as Red List (Low Evidence).
Fetal anomalies v1.319 EFNA4 Bryony Thompson reviewed gene: EFNA4: Rating: RED; Mode of pathogenicity: None; Publications: 16540516, 19201948, 19772933, 23983218, 29168297, 29215649, 33065355, 34586326, 36140816; Phenotypes: craniosynostosis MONDO:0015469; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.319 DISP1 Zornitza Stark Phenotypes for gene: DISP1 were changed from Holoprosencephaly (MONDO:0016296), DISP1-related to Holoprosencephaly 10, MIM# 621143
Fetal anomalies v1.318 DISP1 Zornitza Stark edited their review of gene: DISP1: Changed phenotypes: Holoprosencephaly 10, MIM# 621143
Fetal anomalies v1.318 MCM7 Zornitza Stark Phenotypes for gene: MCM7 were changed from Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency to Syndromic disease, MONDO:0002254, MCM7-related; Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency
Fetal anomalies v1.317 SLC30A5 Zornitza Stark Phenotypes for gene: SLC30A5 were changed from Perinatal lethal cardiomyopathy to Cardiomyopathy MONDO:0004994, SLC30A5-related; Perinatal lethal cardiomyopathy
Fetal anomalies v1.316 CTGF Zornitza Stark Marked gene: CTGF as ready
Fetal anomalies v1.316 CTGF Zornitza Stark Gene: ctgf has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.316 CTGF Zornitza Stark Classified gene: CTGF as Amber List (moderate evidence)
Fetal anomalies v1.316 CTGF Zornitza Stark Gene: ctgf has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.315 CTGF Zornitza Stark gene: CTGF was added
gene: CTGF was added to Fetal anomalies. Sources: Literature
new gene name tags were added to gene: CTGF.
Mode of inheritance for gene: CTGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTGF were set to 39506047
Phenotypes for gene: CTGF were set to Kyphomelic dysplasia
Review for gene: CTGF was set to AMBER
Added comment: CCN2 is the new HGNC approved name.

PMID: 39506047
Three individuals from two unrelated consanguineous families presented with short stature, facial dysmorphism and kyphomelic skeletal dysplasia.

A rare missense variant in family 1 (Cys148Tyr) and novel frameshift variant (Pro260LeufsTer7) in family 2 was identified in homozygous state.
Zebrafish model was also conducted that showed altered body curvature and impaired cartilage formation in craniofacial region resulting in either bent or missing tails.

A missense variant c.443G>A; p.(Cys148Tyr) in exon 3 and a frameshift variant, c.779_786del; p.(Pro260LeufsTer7) in exon 5.
Sources: Literature
Fetal anomalies v1.314 MIR17HG Zornitza Stark Tag non-coding gene tag was added to gene: MIR17HG.
Fetal anomalies v1.314 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
Fetal anomalies v1.314 SNORD118 Zornitza Stark Tag non-coding gene tag was added to gene: SNORD118.
Fetal anomalies v1.314 RNU4ATAC Zornitza Stark Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710; Roifman syndrome, MIM#616651 to RNU4ATAC spectrum disorder MONDO:0100558; Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710; Roifman syndrome, MIM#616651
Fetal anomalies v1.313 RNU4ATAC Zornitza Stark Tag non-coding gene tag was added to gene: RNU4ATAC.
Fetal anomalies v1.313 RNU12 Zornitza Stark Tag non-coding gene tag was added to gene: RNU12.
Fetal anomalies v1.313 H19 Zornitza Stark Tag non-coding gene tag was added to gene: H19.
Fetal anomalies v1.313 SENP7 Bryony Thompson Classified gene: SENP7 as Green List (high evidence)
Fetal anomalies v1.313 SENP7 Bryony Thompson Gene: senp7 has been classified as Green List (High Evidence).
Fetal anomalies v1.312 SENP7 Bryony Thompson reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 37460201, 39763084, 38972567; Phenotypes: Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.312 ITGAV Zornitza Stark Marked gene: ITGAV as ready
Fetal anomalies v1.312 ITGAV Zornitza Stark Gene: itgav has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.312 ITGAV Zornitza Stark Classified gene: ITGAV as Amber List (moderate evidence)
Fetal anomalies v1.312 ITGAV Zornitza Stark Gene: itgav has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.311 ITGAV Zornitza Stark gene: ITGAV was added
gene: ITGAV was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ITGAV was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGAV were set to 39526957
Phenotypes for gene: ITGAV were set to Syndromic disease, MONDO:0002254, ITGAV-related
Review for gene: ITGAV was set to AMBER
Added comment: Three unrelated families reported: two with affected children (one hmz missense; other compound het LoF with missense) and one family with four affected fetuses. Clinical features included brain and eye anomalies and IBD/immune dysregulation. TGF-beta signalling pathway affected. The deletion of itgav in zebrafish recapitulated patient phenotypes including retinal and brain defects and the loss of microglia in early development as well as colitis in juvenile zebrafish with reduced SMAD3 expression and transcriptional regulation.
Sources: Literature
Fetal anomalies v1.310 C1orf127 Zornitza Stark Marked gene: C1orf127 as ready
Fetal anomalies v1.310 C1orf127 Zornitza Stark Gene: c1orf127 has been classified as Green List (High Evidence).
Fetal anomalies v1.310 C1orf127 Zornitza Stark Classified gene: C1orf127 as Green List (high evidence)
Fetal anomalies v1.310 C1orf127 Zornitza Stark Gene: c1orf127 has been classified as Green List (High Evidence).
Fetal anomalies v1.309 C1orf127 Zornitza Stark gene: C1orf127 was added
gene: C1orf127 was added to Fetal anomalies. Sources: Literature
new gene name tags were added to gene: C1orf127.
Mode of inheritance for gene: C1orf127 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1orf127 were set to 39753129
Phenotypes for gene: C1orf127 were set to Heterotaxy, visceral, MONDO:0018677, CIROZ-related
Review for gene: C1orf127 was set to GREEN
Added comment: 16 individuals from 10 families reported with bi-allelic variants in this gene and heterotaxy, including CHD. Supportive mouse model. CIROZ is absent or obsolete in select animals with motile cilia at their left-right organiser, including Carnivora, Atherinomorpha fish, or jawless vertebrates. Knockouts in zebrafish and Xenopus did not have observable LR anomalies. Approved HGNC name is CIROZ.
Sources: Literature
Fetal anomalies v1.308 PPFIBP1 Krithika Murali Marked gene: PPFIBP1 as ready
Fetal anomalies v1.308 PPFIBP1 Krithika Murali Gene: ppfibp1 has been classified as Green List (High Evidence).
Fetal anomalies v1.308 PPFIBP1 Krithika Murali Classified gene: PPFIBP1 as Green List (high evidence)
Fetal anomalies v1.308 PPFIBP1 Krithika Murali Gene: ppfibp1 has been classified as Green List (High Evidence).
Fetal anomalies v1.308 PPFIBP1 Krithika Murali Classified gene: PPFIBP1 as Green List (high evidence)
Fetal anomalies v1.308 PPFIBP1 Krithika Murali Gene: ppfibp1 has been classified as Green List (High Evidence).
Fetal anomalies v1.307 PPFIBP1 Krithika Murali changed review comment from: Fetal microcephaly and IUGR are reported features.
Sources: Literature; to: Fetal microcephaly and IUGR are reported features.
Sources: Literature
Fetal anomalies v1.307 PPFIBP1 Krithika Murali gene: PPFIBP1 was added
gene: PPFIBP1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPFIBP1 were set to PMID: 35830857; PMID: 37229200
Phenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities - MIM#620024
Review for gene: PPFIBP1 was set to GREEN
Added comment: Fetal microcephaly and IUGR are reported features.
Sources: Literature
Fetal anomalies v1.306 HYAL2 Zornitza Stark Phenotypes for gene: HYAL2 were changed from Cleft lip and palate; cor triatriatum; congenital cardiac malformations to Muggenthaler-Chowdhury-Chioza syndrome, MIM# 621063
Fetal anomalies v1.305 PIGL Michelle Torres reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome MIM#280000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.305 KDM6B Zornitza Stark Marked gene: KDM6B as ready
Fetal anomalies v1.305 KDM6B Zornitza Stark Gene: kdm6b has been classified as Green List (High Evidence).
Fetal anomalies v1.305 KDM6B Zornitza Stark Classified gene: KDM6B as Green List (high evidence)
Fetal anomalies v1.305 KDM6B Zornitza Stark Gene: kdm6b has been classified as Green List (High Evidence).
Fetal anomalies v1.304 KDM6B Zornitza Stark gene: KDM6B was added
gene: KDM6B was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: KDM6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KDM6B were set to Stolerman neurodevelopmental syndrome, MIM# 618505
Review for gene: KDM6B was set to GREEN
Added comment: Well established gene-disease association. A proportion of individuals have congenital anomalies, including cleft palate, skeletal anomalies and congenital heart disease.
Sources: Expert Review
Fetal anomalies v1.303 LDB1 Zornitza Stark Marked gene: LDB1 as ready
Fetal anomalies v1.303 LDB1 Zornitza Stark Gene: ldb1 has been classified as Green List (High Evidence).
Fetal anomalies v1.303 LDB1 Zornitza Stark Classified gene: LDB1 as Green List (high evidence)
Fetal anomalies v1.303 LDB1 Zornitza Stark Gene: ldb1 has been classified as Green List (High Evidence).
Fetal anomalies v1.302 LDB1 Zornitza Stark gene: LDB1 was added
gene: LDB1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: LDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LDB1 were set to 39680505
Phenotypes for gene: LDB1 were set to Congenital hydrocephalus MONDO:0016349
Review for gene: LDB1 was set to GREEN
Added comment: Exome-wide significant enrichment of LDB1 protein-altering de novo variants (p = 1.11 x 10-15) in a large cerebral ventriculomegaly cohort (>2,697 parent-proband trios). 8 unrelated cases with ventriculomegaly, developmental delay, and dysmorphic features with de novo variants (7 LoF variants truncate LDB1's carboxy-terminal LIM interaction domain & 1 missense).
Sources: Literature
Fetal anomalies v1.301 PDE12 Zornitza Stark Marked gene: PDE12 as ready
Fetal anomalies v1.301 PDE12 Zornitza Stark Gene: pde12 has been classified as Green List (High Evidence).
Fetal anomalies v1.301 PDE12 Zornitza Stark Classified gene: PDE12 as Green List (high evidence)
Fetal anomalies v1.301 PDE12 Zornitza Stark Gene: pde12 has been classified as Green List (High Evidence).
Fetal anomalies v1.300 PDE12 Zornitza Stark gene: PDE12 was added
gene: PDE12 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PDE12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE12 were set to 39567835
Phenotypes for gene: PDE12 were set to Mitochondrial disease MONDO:0044970, PDE12-related
Review for gene: PDE12 was set to GREEN
Added comment: 3 families (2 consanguineous) with 5 affected individuals with early onset mitochondrial disease presentation (3 liveborn, 2 intrauterine death).
-Family 1: 1 x infant death @3mths (no clinical information), 1 x 7yr old with neonatal respiratory and lactic acidosis, developmental delay, and mitochondrial respiratory chain deficiencies, and marked cytochrome c oxidase (COX) deficiency in muscle.
-Family 2: 1 x neonatal death @2days with metabolic acidosis and lactic acidosis, respiratory failure, lissencephaly, dysgenesis of the corpus callosum and extensive periventricular and subcortical cysts. Normal pyruvate dehydrogenase complex and electron
transfer chain activities in fibroblasts.
-Family 3: 2 x fetuses (13wks and 22wks) with increase nuchal translucency and reduced fetal movements. One had intra-uterine growth retardation, hydrops and cystic hygroma. The other had permanent flexion contractures of four limbs). Western blotting in fetal skeletal muscle showed absent respiratory chain complexes (I, IV, and V).

WES in all 3 families identified 3 different homozygous missense variants in PDE12 gene (p.Tyr155Cys, p.Gly372Glu, and p.Arg41Pro). All variants segregated with disease, were rare in gnomAD, and in silico pathogenicity prediction tools pointed towards a high likelihood of pathogenicity.

PDE12 gene encodes the poly(A)-specific exoribonuclease, involved in the quality control of mitochondrial non-coding RNAs. Patient-derived primary fibroblasts demonstrate diminished steady-state levels of PDE12 protein, whilst mitochondrial poly(A)-tail RNA sequencing revealed an accumulation of spuriously polyadenylated mitochondrial RNA, consistent with perturbed function of PDE12 protein.
Sources: Literature
Fetal anomalies v1.299 RBFOX2 Ain Roesley Phenotypes for gene: RBFOX2 were changed from Congenital heart disease MONDO:0005453, RBFOX2-related to RBFOX2-related congenital heart disorder (MONDO:0100557)
Fetal anomalies v1.298 RBFOX2 Zornitza Stark Phenotypes for gene: RBFOX2 were changed from to Congenital heart disease MONDO:0005453, RBFOX2-related
Fetal anomalies v1.297 RBFOX2 Zornitza Stark Classified gene: RBFOX2 as Green List (high evidence)
Fetal anomalies v1.297 RBFOX2 Zornitza Stark Gene: rbfox2 has been classified as Green List (High Evidence).
Fetal anomalies v1.296 RBFOX2 Zornitza Stark reviewed gene: RBFOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital heart disease MONDO:0005453, RBFOX2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.296 FRYL Zornitza Stark Phenotypes for gene: FRYL were changed from neurodevelopmental disorder MONDO:0700092, FRYL-related to Pan-Chung-Bellen syndrome, MIM# 621049
Fetal anomalies v1.295 FRYL Zornitza Stark edited their review of gene: FRYL: Changed phenotypes: Pan-Chung-Bellen syndrome, MIM# 621049
Fetal anomalies v1.295 RFWD3 Bryony Thompson Classified gene: RFWD3 as Amber List (moderate evidence)
Fetal anomalies v1.295 RFWD3 Bryony Thompson Gene: rfwd3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.294 RFWD3 Bryony Thompson reviewed gene: RFWD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 28691929, 38058754; Phenotypes: Fanconi anemia MONDO:0019391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.294 DHRSX Zornitza Stark Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286, DHRSX-related to Congenital disorder of glycosylation, type 1DD, MIM# 301133
Fetal anomalies v1.293 DHRSX Zornitza Stark edited their review of gene: DHRSX: Changed phenotypes: Congenital disorder of glycosylation, type 1DD, MIM# 301133
Fetal anomalies v1.293 GON4L Bryony Thompson Marked gene: GON4L as ready
Fetal anomalies v1.293 GON4L Bryony Thompson Gene: gon4l has been classified as Green List (High Evidence).
Fetal anomalies v1.293 GON4L Bryony Thompson Classified gene: GON4L as Green List (high evidence)
Fetal anomalies v1.293 GON4L Bryony Thompson Gene: gon4l has been classified as Green List (High Evidence).
Fetal anomalies v1.292 GON4L Bryony Thompson gene: GON4L was added
gene: GON4L was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GON4L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GON4L were set to 39500882; 21937992
Phenotypes for gene: GON4L were set to complex neurodevelopmental disorder MONDO:0100038
Review for gene: GON4L was set to GREEN
Added comment: 2 LoF variants in 4 cases from 3 unrelated consanguineous families, and supporting null zebrafish model
PMID: 39500882 - 2 homozygous truncating GON4L variants [NM_001282860.2: c.62_63del, p.(Gln21Argfs*12) and c.5517+1G>A] in 3 patients from 2 consanguineous families with prenatal-onset growth impairment, developmental delay, mild intellectual disability, speech impairment, progressive and disproportionate microcephaly, facial asymmetry, congenital heart anomaly, and brain structure abnormalities.
Null zebrafish model had distinct morphological and size abnormalities in the craniofacial cartilage of zebrafish larvae
Heterozygous carriers in biallelic families were unaffected
PMID: 21937992 - a case from Iran from a consanguineous family homozygous for c.5517+1G>A with syndromic ID. No other clinical details provided
Sources: Literature
Fetal anomalies v1.291 LAMA3 Ain Roesley Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional, Herlitz type (MIM#226700) to Epidermolysis bullosa, junctional 2A, intermediate MIM#619783; Epidermolysis bullosa, junctional 2B, severe MIM#619784; Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous MIM#245660
Fetal anomalies v1.290 SRPK3 Zornitza Stark Phenotypes for gene: SRPK3 were changed from Neurodevelopmental disorder, MONDO:0700092, SRPK3-related to Intellectual developmental disorder, X-linked, 114, MIM#301134
Fetal anomalies v1.289 SRPK3 Zornitza Stark edited their review of gene: SRPK3: Changed phenotypes: Intellectual developmental disorder, X-linked, 114, MIM#301134
Fetal anomalies v1.289 ZRSR2 Zornitza Stark Phenotypes for gene: ZRSR2 were changed from Orofacialdigital syndrome MONDO:0015375, ZRSR2-related to Orofaciodigital syndrome XXI, MIM# 301132
Fetal anomalies v1.288 ZRSR2 Zornitza Stark reviewed gene: ZRSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XXI, MIM# 301132; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.288 RREB1 Krithika Murali Marked gene: RREB1 as ready
Fetal anomalies v1.288 RREB1 Krithika Murali Gene: rreb1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.288 RREB1 Krithika Murali Publications for gene: RREB1 were set to 32938917; 38332451
Fetal anomalies v1.287 RREB1 Krithika Murali Publications for gene: RREB1 were set to PMID: 32938917; 38332451
Fetal anomalies v1.286 RREB1 Krithika Murali Classified gene: RREB1 as Amber List (moderate evidence)
Fetal anomalies v1.286 RREB1 Krithika Murali Gene: rreb1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.285 RREB1 Krithika Murali gene: RREB1 was added
gene: RREB1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RREB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RREB1 were set to PMID: 32938917; 38332451
Phenotypes for gene: RREB1 were set to Rasopathy, MONDO:0021060, RREB1-related
Review for gene: RREB1 was set to AMBER
Added comment: PMID 38332451: de novo LoF variant in an individual with Noonan syndrome-like features. No prenatal phenotype reported in this individual, however, prenatal phenotype has been reported with other RASopathies.
Sources: Literature
Fetal anomalies v1.284 DHRSX Zornitza Stark Marked gene: DHRSX as ready
Fetal anomalies v1.284 DHRSX Zornitza Stark Gene: dhrsx has been classified as Green List (High Evidence).
Fetal anomalies v1.284 DHRSX Zornitza Stark Classified gene: DHRSX as Green List (high evidence)
Fetal anomalies v1.284 DHRSX Zornitza Stark Gene: dhrsx has been classified as Green List (High Evidence).
Fetal anomalies v1.283 DHRSX Zornitza Stark gene: DHRSX was added
gene: DHRSX was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHRSX were set to 38821050
Phenotypes for gene: DHRSX were set to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related
Review for gene: DHRSX was set to GREEN
Added comment: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.

In PAR.

Contractures and brain anomalies may be detectable antenatally.
Sources: Literature
Fetal anomalies v1.282 FLVCR1 Zornitza Stark Phenotypes for gene: FLVCR1 were changed from Ataxia, posterior column, with retinitis pigmentosa, MIM#609033 to neurodevelopmental disorder MONDO:0700092, FLVCR1-related; Ataxia, posterior column, with retinitis pigmentosa, MIM#609033
Fetal anomalies v1.281 FLVCR1 Zornitza Stark Publications for gene: FLVCR1 were set to
Fetal anomalies v1.280 FLVCR1 Zornitza Stark Classified gene: FLVCR1 as Green List (high evidence)
Fetal anomalies v1.280 FLVCR1 Zornitza Stark Gene: flvcr1 has been classified as Green List (High Evidence).
Fetal anomalies v1.279 FLVCR1 Zornitza Stark edited their review of gene: FLVCR1: Added comment: PMID 39306721: A new study with 30 patients from 23 unrelated families with biallelic ultra-rare missense and predicted loss-of-function variants in FLVCR1 with a novel FLVCR1-related phenotype characterised by severe developmental disorders with profound developmental delay, microcephaly, brain malformations, epilepsy, spasticity, and premature death. Optic disk atrophy, limb and digital malformations, and macrocytic anaemia can be present.

Included here as brain, limb and digital malformations can present antenatally.; Changed rating: GREEN; Changed publications: 39306721; Changed phenotypes: neurodevelopmental disorder MONDO:0700092, FLVCR1-related, Ataxia, posterior column, with retinitis pigmentosa, MIM#609033
Fetal anomalies v1.279 KLF1 Zornitza Stark Phenotypes for gene: KLF1 were changed from Dyserythropoietic anaemia, congenital, type IV MIM#613673 to Dyserythropoietic anaemia, congenital, type IV MIM#613673; Anaemia, congenital dyserythropoietic, type IVb, MIM#620969
Fetal anomalies v1.278 KLF1 Zornitza Stark Publications for gene: KLF1 were set to 28361594; 25724378
Fetal anomalies v1.277 KLF1 Zornitza Stark Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.276 KLF1 Zornitza Stark reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24443441, 25724378, 28361594, 34554218; Phenotypes: Anaemia, congenital dyserythropoietic, type IVb, MIM#620969; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.276 RPL26 Zornitza Stark Marked gene: RPL26 as ready
Fetal anomalies v1.276 RPL26 Zornitza Stark Gene: rpl26 has been classified as Green List (High Evidence).
Fetal anomalies v1.276 RPL26 Zornitza Stark Classified gene: RPL26 as Green List (high evidence)
Fetal anomalies v1.276 RPL26 Zornitza Stark Gene: rpl26 has been classified as Green List (High Evidence).
Fetal anomalies v1.275 RPL26 Zornitza Stark gene: RPL26 was added
gene: RPL26 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL26 were set to 22431104; 39268718
Phenotypes for gene: RPL26 were set to Diamond-Blackfan anaemia 11, MIM# 614900
Review for gene: RPL26 was set to GREEN
Added comment: Four unrelated families reported, radial ray defects are part of the phenotype.
Sources: Literature
Fetal anomalies v1.274 GMPPA Ain Roesley Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)
Fetal anomalies v1.273 USP9X Ain Roesley Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968) to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968
Fetal anomalies v1.272 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575 to Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575)
Fetal anomalies v1.271 PPP2R5D Ain Roesley Phenotypes for gene: PPP2R5D were changed from Mental retardation, autosomal dominant 35, MIM#616355 to Houge-Janssens syndrome 1, MIM#616355
Fetal anomalies v1.270 KBTBD2 Ain Roesley Marked gene: KBTBD2 as ready
Fetal anomalies v1.270 KBTBD2 Ain Roesley Gene: kbtbd2 has been classified as Green List (High Evidence).
Fetal anomalies v1.270 KBTBD2 Ain Roesley Classified gene: KBTBD2 as Green List (high evidence)
Fetal anomalies v1.270 KBTBD2 Ain Roesley Gene: kbtbd2 has been classified as Green List (High Evidence).
Fetal anomalies v1.269 KBTBD2 Ain Roesley gene: KBTBD2 was added
gene: KBTBD2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KBTBD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KBTBD2 were set to 39313616
Phenotypes for gene: KBTBD2 were set to neurodevelopmental disorder MONDO:0700092, KBTBD2-related
Review for gene: KBTBD2 was set to GREEN
gene: KBTBD2 was marked as current diagnostic
Added comment: 3 families - 2 compound hets and 1 hom

phenotypes include:
Microcephaly, hypotonia, failure to thrive, IUGR, delayed gross motor development, dysmorphism
Sources: Literature
Fetal anomalies v1.268 EXOC3L2 Zornitza Stark Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation, MONDO:0009072; Meckel-Gruber-like syndrome to Brain malformation renal syndrome, MIM# 620943
Fetal anomalies v1.267 EXOC3L2 Zornitza Stark reviewed gene: EXOC3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain malformation renal syndrome, MIM# 620943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.267 NME8 Achchuthan Shanmugasundram changed review comment from: The phenotype listed in the review below, namely, CINCA syndrome, OMIM:607115 is associated with NLRP3 gene rather than NME8 in OMIM. The publications listed below (PMIDs: 12032915, 12483741, 12928894) also reports cases with NLRP3 variants (gene alias: CIAS1) rather than NME8 variants. Hence, this gene should be demoted from green rating and NLRP3 should be added to this panel.; to: The phenotype listed in the review below, namely, CINCA syndrome, OMIM:607115 is associated with NLRP3 gene rather than NME8 in OMIM. The publications listed below (PMIDs: 12032915, 12483741, 12928894) also report cases with NLRP3 variants (gene alias: CIAS1) rather than NME8 variants. Hence, this gene should be demoted from green rating and NLRP3 should be added to this panel.
Fetal anomalies v1.267 MYBBP1A Zornitza Stark Marked gene: MYBBP1A as ready
Fetal anomalies v1.267 MYBBP1A Zornitza Stark Gene: mybbp1a has been classified as Green List (High Evidence).
Fetal anomalies v1.267 MYBBP1A Zornitza Stark Classified gene: MYBBP1A as Green List (high evidence)
Fetal anomalies v1.267 MYBBP1A Zornitza Stark Gene: mybbp1a has been classified as Green List (High Evidence).
Fetal anomalies v1.266 MYBBP1A Zornitza Stark gene: MYBBP1A was added
gene: MYBBP1A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MYBBP1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYBBP1A were set to 39191491; 28425981
Phenotypes for gene: MYBBP1A were set to Hydrops fetalis, MONDO:0015193, MYBBP1A-related
Review for gene: MYBBP1A was set to GREEN
Added comment: Three unrelated fetuses with bi-allelic variants in this gene and severe hydrops.
Sources: Literature
Fetal anomalies v1.265 LAMA5 Tashunka Taylor-Miller reviewed gene: LAMA5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36322204; Phenotypes: cleft lip, cleft palate; Mode of inheritance: Unknown
Fetal anomalies v1.265 NME8 Achchuthan Shanmugasundram reviewed gene: NME8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.265 CSMD1 Zornitza Stark Marked gene: CSMD1 as ready
Fetal anomalies v1.265 CSMD1 Zornitza Stark Gene: csmd1 has been classified as Green List (High Evidence).
Fetal anomalies v1.265 CSMD1 Zornitza Stark Classified gene: CSMD1 as Green List (high evidence)
Fetal anomalies v1.265 CSMD1 Zornitza Stark Gene: csmd1 has been classified as Green List (High Evidence).
Fetal anomalies v1.264 CSMD1 Krithika Murali gene: CSMD1 was added
gene: CSMD1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CSMD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSMD1 were set to PMID: 38816421
Phenotypes for gene: CSMD1 were set to complex neurodevelopmental disorder MONDO:0100038
Review for gene: CSMD1 was set to GREEN
Added comment: Prenatal features reported include polyhydramnios, IUGR, preterm labour. Other reported features such as brain anomalies, arthrogryposis have the potential to be ascertained prenatally also.
--
PMID 38816421 Werren et al 2024 report 8 individuals from 6 families with biallelic missense CSMD1 variants identified through exome sequencing and subsequent gene-sharing efforts. Shared phenotypic features included: GDD, ID, microcephaly and polymicrogyria. Other features included dysmorphism, IUGR, hypotonia, arthrogryposis, seizures, opthalmological anomalies and other brain white matter anomalies Heterozygous parents were unaffected.

Loss of function is the postulated mechanism based on experimental data involving early-stage forebrain organoids differentiated from CSMD1 knockout human embryonic stem cells. ClinGen haploinsufficiency score of 1, however, this curation was last reviewed in 2018. This gene is within the scope of review for the ClinGen Autism and ID GCEP.
Sources: Literature
Fetal anomalies v1.263 FZD6 Zornitza Stark Marked gene: FZD6 as ready
Fetal anomalies v1.263 FZD6 Zornitza Stark Gene: fzd6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.263 FZD6 Zornitza Stark Classified gene: FZD6 as Amber List (moderate evidence)
Fetal anomalies v1.263 FZD6 Zornitza Stark Gene: fzd6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.262 FZD6 Zornitza Stark gene: FZD6 was added
gene: FZD6 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: FZD6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FZD6 were set to 33082562; 26036949; 28425981
Phenotypes for gene: FZD6 were set to Hydrops fetalis, MONDO:0015193, FZD6-related
Review for gene: FZD6 was set to AMBER
Added comment: Three FZD6 variants have been associated with two unrelated cases of fetal hyrdrops.
Sources: Expert list
Fetal anomalies v1.261 TBC1D7 Zornitza Stark Classified gene: TBC1D7 as Amber List (moderate evidence)
Fetal anomalies v1.261 TBC1D7 Zornitza Stark Gene: tbc1d7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.260 TBC1D7 Zornitza Stark Publications for gene: TBC1D7 were set to 23687350; 24515783
Fetal anomalies v1.259 TBC1D7 Zornitza Stark Classified gene: TBC1D7 as Green List (high evidence)
Fetal anomalies v1.259 TBC1D7 Zornitza Stark Gene: tbc1d7 has been classified as Green List (High Evidence).
Fetal anomalies v1.258 TBC1D7 Zornitza Stark reviewed gene: TBC1D7: Rating: GREEN; Mode of pathogenicity: None; Publications: 36669495; Phenotypes: Macrocephaly/megalencephaly syndrome, autosomal recessive - MIM#248000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.258 GLIS2 Zornitza Stark Classified gene: GLIS2 as Green List (high evidence)
Fetal anomalies v1.258 GLIS2 Zornitza Stark Gene: glis2 has been classified as Green List (High Evidence).
Fetal anomalies v1.257 GLIS2 Zornitza Stark edited their review of gene: GLIS2: Added comment: Five individuals from three unrelated families reported, albeit with homozygous variants. Functional data.; Changed rating: GREEN; Changed publications: 31676329, 17618285, 23559409
Fetal anomalies v1.257 SRPK3 Zornitza Stark Marked gene: SRPK3 as ready
Fetal anomalies v1.257 SRPK3 Zornitza Stark Gene: srpk3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.257 SRPK3 Zornitza Stark Classified gene: SRPK3 as Amber List (moderate evidence)
Fetal anomalies v1.257 SRPK3 Zornitza Stark Gene: srpk3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.256 SRPK3 Zornitza Stark gene: SRPK3 was added
gene: SRPK3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SRPK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SRPK3 were set to 39073169
Phenotypes for gene: SRPK3 were set to Neurodevelopmental disorder, MONDO:0700092, SRPK3-related
Review for gene: SRPK3 was set to AMBER
Added comment: PMID 39073169: 9 individuals from 5 unrelated families reported with 4 missense and 1 putative truncating variant and a neurodevelopmental phenotype. The 8 patients ascertained postnatally shared common clinical features including intellectual disability, agenesis of the corpus callosum, abnormal eye movement, and ataxia. A ninth case, ascertained prenatally, had a complex structural brain phenotype. Supportive animal model data (mouse and zebrafish).
Sources: Literature
Fetal anomalies v1.255 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Fetal anomalies v1.255 SPATA5 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is AFG2A
Fetal anomalies v1.255 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Fetal anomalies v1.255 SPATA5 Zornitza Stark Tag new gene name tag was added to gene: SPATA5.
Fetal anomalies v1.255 PSMF1 Zornitza Stark Marked gene: PSMF1 as ready
Fetal anomalies v1.255 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence).
Fetal anomalies v1.255 PSMF1 Zornitza Stark Classified gene: PSMF1 as Green List (high evidence)
Fetal anomalies v1.255 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence).
Fetal anomalies v1.254 PSMF1 Zornitza Stark gene: PSMF1 was added
gene: PSMF1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1
Phenotypes for gene: PSMF1 were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Review for gene: PSMF1 was set to GREEN
Added comment: 22 individuals from 15 families reported with a range of neurological phenotypes ranging from early-onset Parkinson's disease; childhood conditions typified by ID and a range of movement disorders; through to perinatal lethal presentations with arthrogryposis multiplex. Genotype-phenotype correlation: biallelic missense variants resulted in the milder phenotypes, while bi-allelic LoF variants in the more severe phenotypes. Supportive functional data.
Sources: Literature
Fetal anomalies v1.253 VPS50 Ain Roesley Publications for gene: VPS50 were set to PMID: 34037727
Fetal anomalies v1.252 VPS50 Ain Roesley reviewed gene: VPS50: Rating: AMBER; Mode of pathogenicity: None; Publications: 38876772; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v1.252 SERPINA11 Ain Roesley Marked gene: SERPINA11 as ready
Fetal anomalies v1.252 SERPINA11 Ain Roesley Gene: serpina11 has been classified as Red List (Low Evidence).
Fetal anomalies v1.252 SERPINA11 Ain Roesley gene: SERPINA11 was added
gene: SERPINA11 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SERPINA11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINA11 were set to 38831697
Phenotypes for gene: SERPINA11 were set to pericardial effusion; pleural effusion
Review for gene: SERPINA11 was set to RED
gene: SERPINA11 was marked as current diagnostic
Added comment: 1 family with 2 fetuses.

1st fetus presented with isolated pericardial effusion and a TOP was opted.
post mortem:
mild subcutaneous edema with subtle facial dysmorphic features
small gelatinous glistening cyst on the right pericardium. Bilateral pleural effusion and multiple similar cysts were noted on the lung surfaces

2nd fetus also presented with pleural and pericardial effusion and a TOP was opted
post mortem findings were similar to fetus#1

homozygous nonsense variant in SERPINA11 was found p.(Tyr224*)

Immunofluorescence of lung sections from fetus#1 and a gestation-matched fetus as a control demonstrated undetectable levels of SERPINA11 in the bronchiolar epithelium
Sources: Literature
Fetal anomalies v1.251 MYH10 Zornitza Stark Phenotypes for gene: MYH10 were changed from MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly; aqueductal stenosis; Microcephaly; Hip dysplasia to AD complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465)
Fetal anomalies v1.250 FUZ Zornitza Stark Mode of inheritance for gene: FUZ was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.249 FUZ Zornitza Stark Phenotypes for gene: FUZ were changed from Neural tube defects 182940 to Neural tube defects 182940; Ciliopathy_MONDO_0005308, FUZ-related; skeletal ciliopathy
Fetal anomalies v1.248 FUZ Zornitza Stark Publications for gene: FUZ were set to 21840926
Fetal anomalies v1.247 FUZ Zornitza Stark Mode of inheritance for gene: FUZ was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.246 FUZ Chirag Patel Classified gene: FUZ as Green List (high evidence)
Fetal anomalies v1.246 FUZ Chirag Patel Gene: fuz has been classified as Green List (High Evidence).
Fetal anomalies v1.245 FUZ Chirag Patel reviewed gene: FUZ: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38702430, 29068549, 34719684; Phenotypes: Ciliopathy_MONDO_0005308, skeletal ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v1.245 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 15333585, 20133615, 32534991, 11779494, 16088910; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.245 BCORL1 Zornitza Stark Marked gene: BCORL1 as ready
Fetal anomalies v1.245 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.245 BCORL1 Zornitza Stark Classified gene: BCORL1 as Amber List (moderate evidence)
Fetal anomalies v1.245 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.244 BCORL1 Zornitza Stark gene: BCORL1 was added
gene: BCORL1 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BCORL1 were set to Congenital anomaly of the kidney and urinary tract, MONDO:0019719, BCORL1-related
Review for gene: BCORL1 was set to AMBER
Added comment: Emerging evidence of disease association.
Sources: Expert Review
Fetal anomalies v1.243 CCDC114 Zornitza Stark Tag new gene name tag was added to gene: CCDC114.
Fetal anomalies v1.243 ARMC4 Zornitza Stark Tag new gene name tag was added to gene: ARMC4.
Fetal anomalies v1.243 CCDC151 Zornitza Stark Tag new gene name tag was added to gene: CCDC151.
Fetal anomalies v1.243 TTC25 Zornitza Stark Tag new gene name tag was added to gene: TTC25.
Fetal anomalies v1.243 BRWD1 Zornitza Stark changed review comment from: Single individual with situs inversus.; to: Single individual with situs inversus.

Whole gene-disease relationship assessed as DISPUTED by ClinGen.
Fetal anomalies v1.243 BRWD1 Zornitza Stark Tag disputed tag was added to gene: BRWD1.
Fetal anomalies v1.243 HOXD12 Zornitza Stark Marked gene: HOXD12 as ready
Fetal anomalies v1.243 HOXD12 Zornitza Stark Gene: hoxd12 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.243 HOXD12 Zornitza Stark Classified gene: HOXD12 as Amber List (moderate evidence)
Fetal anomalies v1.243 HOXD12 Zornitza Stark Gene: hoxd12 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.242 HOXD12 Zornitza Stark gene: HOXD12 was added
gene: HOXD12 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: HOXD12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXD12 were set to 38663984
Phenotypes for gene: HOXD12 were set to Clubfoot (non-syndromic) MONDO:0007342
Review for gene: HOXD12 was set to AMBER
Added comment: Identified as a candidate gene in a large cohort due to enrichment of rare variants.


PMID: 38663984
Around 9 individuals from 4 unrelated families have been reported with clubfoot and the variants were shown to segregate. Cohort of over 1000 individuals, with several novel candidates identified.

N-terminal region and C-terminal homeobox domain of HOXD12 are known to be clusters for pathogenic variants related to clubfoot.
Loss of function variants are less likely to contribute to clubfoot pathogenesis therefore mechanism of disease is suggested as dominant negative but is not confirmed.
Sources: Literature
Fetal anomalies v1.241 EHBP1L1 Ain Roesley Phenotypes for gene: EHBP1L1 were changed from Non-immune hydrops fetalis, MONDO:0015193, EHBP1L1-related to non-immune hydrops fetalis MONDO:0009369, EHBP1L1-related
Fetal anomalies v1.240 PIP5K1C Zornitza Stark Publications for gene: PIP5K1C were set to 17701898
Fetal anomalies v1.239 PIP5K1C Zornitza Stark Classified gene: PIP5K1C as Green List (high evidence)
Fetal anomalies v1.239 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Green List (High Evidence).
Fetal anomalies v1.238 PIP5K1C Zornitza Stark reviewed gene: PIP5K1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 38491417; Phenotypes: Lethal congenital contractural syndrome 3, OMIM:611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.238 EHBP1L1 Zornitza Stark Phenotypes for gene: EHBP1L1 were changed from Non-immune hydrops fetalis MONDO:0009369 to Non-immune hydrops fetalis, MONDO:0015193, EHBP1L1-related
Fetal anomalies v1.237 EHBP1L1 Zornitza Stark Classified gene: EHBP1L1 as Green List (high evidence)
Fetal anomalies v1.237 EHBP1L1 Zornitza Stark Gene: ehbp1l1 has been classified as Green List (High Evidence).
Fetal anomalies v1.236 EHBP1L1 Zornitza Stark reviewed gene: EHBP1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-immune hydrops fetalis, MONDO:0015193, EHBP1L1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.236 FOSL2 Zornitza Stark Phenotypes for gene: FOSL2 were changed from Neurodevelopmental disorder, MONDO:0700092, FOSL2-related to Aplasia cutis-enamel dysplasia syndrome, MIM# 620789
Fetal anomalies v1.235 FOSL2 Zornitza Stark reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aplasia cutis-enamel dysplasia syndrome, MIM# 620789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted