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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 FTSJ1 Gene migrated from ENSG00000068438 to ENSG00000068438 (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 LMBRD1 Gene migrated from ENSG00000168216 to ENSG00000168216 (gene set migration)
Fetal anomalies v2.0 LHX4 Gene migrated from ENSG00000121454 to ENSG00000121454 (gene set migration)
Fetal anomalies v2.0 FOXP1 Gene migrated from ENSG00000114861 to ENSG00000114861 (gene set migration)
Fetal anomalies v2.0 FBXO11 Gene migrated from ENSG00000138081 to ENSG00000138081 (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 FARS2 Gene migrated from ENSG00000145982 to ENSG00000145982 (gene set migration)
Fetal anomalies v2.0 DHDDS Gene migrated from ENSG00000117682 to ENSG00000117682 (gene set migration)
Fetal anomalies v2.0 DLG3 Gene migrated from ENSG00000082458 to ENSG00000082458 (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 CYP4F22 Gene migrated from ENSG00000171954 to ENSG00000171954 (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 DDHD1 Gene migrated from ENSG00000100523 to ENSG00000100523 (gene set migration)
Fetal anomalies v2.0 DDC Gene migrated from ENSG00000132437 to ENSG00000132437 (gene set migration)
Fetal anomalies v2.0 CPS1 Gene migrated from ENSG00000021826 to ENSG00000021826 (gene set migration)
Fetal anomalies v2.0 AIPL1 Gene migrated from ENSG00000129221 to ENSG00000129221 (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 CFL2 Gene migrated from ENSG00000165410 to ENSG00000165410 (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 ATP13A2 Gene migrated from ENSG00000159363 to ENSG00000159363 (gene set migration)
Fetal anomalies v2.0 PEPD Gene migrated from ENSG00000124299 to ENSG00000124299 (gene set migration)
Fetal anomalies v2.0 CD151 Gene migrated from ENSG00000177697 to ENSG00000177697 (gene set migration)
Fetal anomalies v2.0 SYNCRIP Gene migrated from ENSG00000135316 to ENSG00000135316 (gene set migration)
Fetal anomalies v2.0 CD96 Gene migrated from ENSG00000153283 to ENSG00000153283 (gene set migration)
Fetal anomalies v2.0 BCKDHB Gene migrated from ENSG00000083123 to ENSG00000083123 (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 BCKDHA Gene migrated from ENSG00000248098 to ENSG00000248098 (gene set migration)
Fetal anomalies v2.0 LAMA3 Gene migrated from ENSG00000053747 to ENSG00000053747 (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 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 AGPAT2 Gene migrated from ENSG00000169692 to ENSG00000169692 (gene set migration)
Fetal anomalies v2.0 SLC19A3 Gene migrated from ENSG00000135917 to ENSG00000135917 (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 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 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 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 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 METTL23 Gene migrated from ENSG00000181038 to ENSG00000181038 (gene set migration)
Fetal anomalies v2.0 ZMYND11 Gene migrated from ENSG00000015171 to ENSG00000015171 (gene set migration)
Fetal anomalies v2.0 YWHAG Gene migrated from ENSG00000170027 to ENSG00000170027 (gene set migration)
Fetal anomalies v2.0 EFNA4 Gene migrated from ENSG00000243364 to ENSG00000243364 (gene set migration)
Fetal anomalies v2.0 FMN2 Gene migrated from ENSG00000155816 to ENSG00000155816 (gene set migration)
Fetal anomalies v2.0 TMPRSS7 Gene migrated from ENSG00000176040 to ENSG00000176040 (gene set migration)
Fetal anomalies v2.0 TRPV3 Gene migrated from ENSG00000167723 to ENSG00000167723 (gene set migration)
Fetal anomalies v2.0 TRIM32 Gene migrated from ENSG00000119401 to ENSG00000119401 (gene set migration)
Fetal anomalies v2.0 TUBA8 Gene migrated from ENSG00000183785 to ENSG00000183785 (gene set migration)
Fetal anomalies v2.0 AMOT Gene migrated from ENSG00000126016 to ENSG00000126016 (gene set migration)
Fetal anomalies v2.0 PATJ Gene migrated from ENSG00000132849 to ENSG00000132849 (gene set migration)
Fetal anomalies v2.0 PAK2 Gene migrated from ENSG00000180370 to ENSG00000180370 (gene set migration)
Fetal anomalies v2.0 GBA2 Gene migrated from ENSG00000070610 to ENSG00000070610 (gene set migration)
Fetal anomalies v2.0 AAAS Gene migrated from ENSG00000094914 to ENSG00000094914 (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 UROC1 Gene migrated from ENSG00000159650 to ENSG00000159650 (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 UFM1 Gene migrated from ENSG00000120686 to ENSG00000120686 (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 TIMM8A Gene migrated from ENSG00000126953 to ENSG00000126953 (gene set migration)
Fetal anomalies v2.0 CFAP74 Gene migrated from ENSG00000142609 to ENSG00000142609 (gene set migration)
Fetal anomalies v2.0 ST3GAL5 Gene migrated from ENSG00000115525 to ENSG00000115525 (gene set migration)
Fetal anomalies v2.0 TK2 Gene migrated from ENSG00000166548 to ENSG00000166548 (gene set migration)
Fetal anomalies v2.0 FAP Gene migrated from ENSG00000078098 to ENSG00000078098 (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 ATRIP Gene migrated from ENSG00000164053 to ENSG00000164053 (gene set migration)
Fetal anomalies v2.0 SNRPE Gene migrated from ENSG00000182004 to ENSG00000182004 (gene set migration)
Fetal anomalies v2.0 SYNGAP1 Gene migrated from ENSG00000197283 to ENSG00000197283 (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 SLC25A19 Gene migrated from ENSG00000125454 to ENSG00000125454 (gene set migration)
Fetal anomalies v2.0 GAS2L2 Gene migrated from ENSG00000270765 to ENSG00000270765 (gene set migration)
Fetal anomalies v2.0 STXBP1 Gene migrated from ENSG00000136854 to ENSG00000136854 (gene set migration)
Fetal anomalies v2.0 IYD Gene migrated from ENSG00000009765 to ENSG00000009765 (gene set migration)
Fetal anomalies v2.0 SLC1A2 Gene migrated from ENSG00000110436 to ENSG00000110436 (gene set migration)
Fetal anomalies v2.0 SCN8A Gene migrated from ENSG00000196876 to ENSG00000196876 (gene set migration)
Fetal anomalies v2.0 SURF1 Gene migrated from ENSG00000148290 to ENSG00000148290 (gene set migration)
Fetal anomalies v2.0 MDH2 Gene migrated from ENSG00000146701 to ENSG00000146701 (gene set migration)
Fetal anomalies v2.0 TMBIM4 Gene migrated from ENSG00000155957 to ENSG00000155957 (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 SPRED1 Gene migrated from ENSG00000166068 to ENSG00000166068 (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 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 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 GALC Gene migrated from ENSG00000054983 to ENSG00000054983 (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 PYROXD1 Gene migrated from ENSG00000121350 to ENSG00000121350 (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 PTH Gene migrated from ENSG00000152266 to ENSG00000152266 (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 PLCB1 Gene migrated from ENSG00000182621 to ENSG00000182621 (gene set migration)
Fetal anomalies v2.0 PRSS12 Gene migrated from ENSG00000164099 to ENSG00000164099 (gene set migration)
Fetal anomalies v2.0 PPT1 Gene migrated from ENSG00000131238 to ENSG00000131238 (gene set migration)
Fetal anomalies v2.0 PPM1D Gene migrated from ENSG00000170836 to ENSG00000170836 (gene set migration)
Fetal anomalies v2.0 PFKM Gene migrated from ENSG00000152556 to ENSG00000152556 (gene set migration)
Fetal anomalies v2.0 PPA2 Gene migrated from ENSG00000138777 to ENSG00000138777 (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 NFU1 Gene migrated from ENSG00000169599 to ENSG00000169599 (gene set migration)
Fetal anomalies v2.0 NDUFV1 Gene migrated from ENSG00000167792 to ENSG00000167792 (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 NDUFAF2 Gene migrated from ENSG00000164182 to ENSG00000164182 (gene set migration)
Fetal anomalies v2.0 NDUFS8 Gene migrated from ENSG00000110717 to ENSG00000110717 (gene set migration)
Fetal anomalies v2.0 NAXE Gene migrated from ENSG00000163382 to ENSG00000163382 (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 TTC12 Gene migrated from ENSG00000149292 to ENSG00000149292 (gene set migration)
Fetal anomalies v2.0 MYT1L Gene migrated from ENSG00000186487 to ENSG00000186487 (gene set migration)
Fetal anomalies v2.0 MYO5A Gene migrated from ENSG00000197535 to ENSG00000197535 (gene set migration)
Fetal anomalies v2.0 MYBPC2 Gene migrated from ENSG00000086967 to ENSG00000086967 (gene set migration)
Fetal anomalies v2.0 MPI Gene migrated from ENSG00000178802 to ENSG00000178802 (gene set migration)
Fetal anomalies v2.0 POLR3B Gene migrated from ENSG00000013503 to ENSG00000013503 (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 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 FEZF1 Gene migrated from ENSG00000128610 to ENSG00000128610 (gene set migration)
Fetal anomalies v2.0 LIAS Gene migrated from ENSG00000121897 to ENSG00000121897 (gene set migration)
Fetal anomalies v2.0 KMT2B Gene migrated from ENSG00000272333 to ENSG00000272333 (gene set migration)
Fetal anomalies v2.0 KISS1R Gene migrated from ENSG00000116014 to ENSG00000116014 (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 SIX5 Gene migrated from ENSG00000177045 to ENSG00000177045 (gene set migration)
Fetal anomalies v2.0 ITCH Gene migrated from ENSG00000078747 to ENSG00000078747 (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 ADAMTS9 Gene migrated from ENSG00000163638 to ENSG00000163638 (gene set migration)
Fetal anomalies v2.0 IGFBP7 Gene migrated from ENSG00000163453 to ENSG00000163453 (gene set migration)
Fetal anomalies v2.0 HGSNAT Gene migrated from ENSG00000165102 to ENSG00000165102 (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 HECW2 Gene migrated from ENSG00000138411 to ENSG00000138411 (gene set migration)
Fetal anomalies v2.0 GPAA1 Gene migrated from ENSG00000197858 to ENSG00000197858 (gene set migration)
Fetal anomalies v2.0 GNAQ Gene migrated from ENSG00000156052 to ENSG00000156052 (gene set migration)
Fetal anomalies v2.0 GRIN2A Gene migrated from ENSG00000183454 to ENSG00000183454 (gene set migration)
Fetal anomalies v2.0 GABRG2 Gene migrated from ENSG00000113327 to ENSG00000113327 (gene set migration)
Fetal anomalies v2.0 H19 Gene migrated from ENSG00000130600 to ENSG00000130600 (gene set migration)
Fetal anomalies v2.0 GABRA1 Gene migrated from ENSG00000022355 to ENSG00000022355 (gene set migration)
Fetal anomalies v2.0 BGN Gene migrated from ENSG00000182492 to ENSG00000182492 (gene set migration)
Fetal anomalies v2.0 GDI1 Gene migrated from ENSG00000203879 to ENSG00000203879 (gene set migration)
Fetal anomalies v2.0 FOXP2 Gene migrated from ENSG00000128573 to ENSG00000128573 (gene set migration)
Fetal anomalies v2.0 GDF2 Gene migrated from ENSG00000263761 to ENSG00000263761 (gene set migration)
Fetal anomalies v2.0 GATM Gene migrated from ENSG00000171766 to ENSG00000171766 (gene set migration)
Fetal anomalies v2.0 EEF1A2 Gene migrated from ENSG00000101210 to ENSG00000101210 (gene set migration)
Fetal anomalies v2.0 GABRB3 Gene migrated from ENSG00000166206 to ENSG00000166206 (gene set migration)
Fetal anomalies v2.0 DBT Gene migrated from ENSG00000137992 to ENSG00000137992 (gene set migration)
Fetal anomalies v2.0 PAX7 Gene migrated from ENSG00000009709 to ENSG00000009709 (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 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 EMD Gene migrated from ENSG00000102119 to ENSG00000102119 (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 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 CLUAP1 Gene migrated from ENSG00000103351 to ENSG00000103351 (gene set migration)
Fetal anomalies v2.0 HR Gene migrated from ENSG00000168453 to ENSG00000168453 (gene set migration)
Fetal anomalies v2.0 ALOXE3 Gene migrated from ENSG00000179148 to ENSG00000179148 (gene set migration)
Fetal anomalies v2.0 ALOX12B Gene migrated from ENSG00000179477 to ENSG00000179477 (gene set migration)
Fetal anomalies v2.0 SECISBP2 Gene migrated from ENSG00000187742 to ENSG00000187742 (gene set migration)
Fetal anomalies v2.0 CERS3 Gene migrated from ENSG00000154227 to ENSG00000154227 (gene set migration)
Fetal anomalies v2.0 UBE2A Gene migrated from ENSG00000077721 to ENSG00000077721 (gene set migration)
Fetal anomalies v2.0 AMACR Gene migrated from ENSG00000242110 to ENSG00000242110 (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 CAD Gene migrated from ENSG00000084774 to ENSG00000084774 (gene set migration)
Fetal anomalies v2.0 SIK1 Gene migrated from ENSG00000142178 to ENSG00000142178 (gene set migration)
Fetal anomalies v2.0 ATP6V1B1 Gene migrated from ENSG00000116039 to ENSG00000116039 (gene set migration)
Fetal anomalies v2.0 SELENON Gene migrated from ENSG00000162430 to ENSG00000162430 (gene set migration)
Fetal anomalies v2.0 CYC1 Gene migrated from ENSG00000179091 to ENSG00000179091 (gene set migration)
Fetal anomalies v2.0 NUP62 Gene migrated from ENSG00000213024 to ENSG00000213024 (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 DNAJB13 Gene migrated from ENSG00000187726 to ENSG00000187726 (gene set migration)
Fetal anomalies v2.0 PYGM Gene migrated from ENSG00000068976 to ENSG00000068976 (gene set migration)
Fetal anomalies v2.0 RSPH4A Gene migrated from ENSG00000111834 to ENSG00000111834 (gene set migration)
Fetal anomalies v2.0 AASS Gene migrated from ENSG00000008311 to ENSG00000008311 (gene set migration)
Fetal anomalies v2.0 ARG1 Gene migrated from ENSG00000118520 to ENSG00000118520 (gene set migration)
Fetal anomalies v2.0 NTRK2 Gene migrated from ENSG00000148053 to ENSG00000148053 (gene set migration)
Fetal anomalies v2.0 GNPTG Gene migrated from ENSG00000090581 to ENSG00000090581 (gene set migration)
Fetal anomalies v2.0 GALT Gene migrated from ENSG00000213930 to ENSG00000213930 (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 ACBD5 Gene migrated from ENSG00000107897 to ENSG00000107897 (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 WRAP53 Gene migrated from ENSG00000141499 to ENSG00000141499 (gene set migration)
Fetal anomalies v2.0 BTD Gene migrated from ENSG00000169814 to ENSG00000169814 (gene set migration)
Fetal anomalies v2.0 AGXT Gene migrated from ENSG00000172482 to ENSG00000172482 (gene set migration)
Fetal anomalies v2.0 NEXMIF Gene migrated from ENSG00000050030 to ENSG00000050030 (gene set migration)
Fetal anomalies v2.0 XPC Gene migrated from ENSG00000154767 to ENSG00000154767 (gene set migration)
Fetal anomalies v2.0 SGCA Gene migrated from ENSG00000108823 to ENSG00000108823 (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 NHP2 Gene migrated from ENSG00000145912 to ENSG00000145912 (gene set migration)
Fetal anomalies v2.0 COPB1 Gene migrated from ENSG00000129083 to ENSG00000129083 (gene set migration)
Fetal anomalies v2.0 ALG2 Gene migrated from ENSG00000119523 to ENSG00000119523 (gene set migration)
Fetal anomalies v2.0 SLC26A7 Gene migrated from ENSG00000147606 to ENSG00000147606 (gene set migration)
Fetal anomalies v2.0 RSPH1 Gene migrated from ENSG00000160188 to ENSG00000160188 (gene set migration)
Fetal anomalies v2.0 LAMA5 Gene migrated from ENSG00000130702 to ENSG00000130702 (gene set migration)
Fetal anomalies v2.0 RSPH3 Gene migrated from ENSG00000130363 to ENSG00000130363 (gene set migration)
Fetal anomalies v2.0 FRRS1L Gene migrated from ENSG00000260230 to ENSG00000260230 (gene set migration)
Fetal anomalies v2.0 ABCD1 Gene migrated from ENSG00000101986 to ENSG00000101986 (gene set migration)
Fetal anomalies v2.0 MIB1 Gene migrated from ENSG00000101752 to ENSG00000101752 (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 ARPC4 Gene migrated from ENSG00000241553 to ENSG00000241553 (gene set migration)
Fetal anomalies v2.0 SPEF2 Gene migrated from ENSG00000152582 to ENSG00000152582 (gene set migration)
Fetal anomalies v2.0 POLG2 Gene migrated from ENSG00000256525 to ENSG00000256525 (gene set migration)
Fetal anomalies v2.0 FOLR1 Gene migrated from ENSG00000110195 to ENSG00000110195 (gene set migration)
Fetal anomalies v2.0 MANBA Gene migrated from ENSG00000109323 to ENSG00000109323 (gene set migration)
Fetal anomalies v2.0 CYP2U1 Gene migrated from ENSG00000155016 to ENSG00000155016 (gene set migration)
Fetal anomalies v2.0 RAB39B Gene migrated from ENSG00000155961 to ENSG00000155961 (gene set migration)
Fetal anomalies v2.0 WNT3 Gene migrated from ENSG00000108379 to ENSG00000108379 (gene set migration)
Fetal anomalies v2.0 SLC26A4 Gene migrated from ENSG00000091137 to ENSG00000091137 (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 TMEM53 Gene migrated from ENSG00000126106 to ENSG00000126106 (gene set migration)
Fetal anomalies v2.0 CA8 Gene migrated from ENSG00000178538 to ENSG00000178538 (gene set migration)
Fetal anomalies v2.0 IRS4 Gene migrated from ENSG00000133124 to ENSG00000133124 (gene set migration)
Fetal anomalies v2.0 VDR Gene migrated from ENSG00000111424 to ENSG00000111424 (gene set migration)
Fetal anomalies v2.0 RASGRP2 Gene migrated from ENSG00000068831 to ENSG00000068831 (gene set migration)
Fetal anomalies v2.0 UBE3A Gene migrated from ENSG00000114062 to ENSG00000114062 (gene set migration)
Fetal anomalies v2.0 RAB11A Gene migrated from ENSG00000103769 to ENSG00000103769 (gene set migration)
Fetal anomalies v2.0 SHANK2 Gene migrated from ENSG00000162105 to ENSG00000162105 (gene set migration)
Fetal anomalies v2.0 USP27X Gene migrated from ENSG00000273820 to ENSG00000273820 (gene set migration)
Fetal anomalies v2.0 THAP4 Gene migrated from ENSG00000176946 to ENSG00000176946 (gene set migration)
Fetal anomalies v2.0 NUS1 Gene migrated from ENSG00000153989 to ENSG00000153989 (gene set migration)
Fetal anomalies v2.0 PTCHD1 Gene migrated from ENSG00000165186 to ENSG00000165186 (gene set migration)
Fetal anomalies v2.0 UQCRQ Gene migrated from ENSG00000164405 to ENSG00000164405 (gene set migration)
Fetal anomalies v2.0 PLP1 Gene migrated from ENSG00000123560 to ENSG00000123560 (gene set migration)
Fetal anomalies v2.0 PSMB8 Gene migrated from ENSG00000204264 to ENSG00000204264 (gene set migration)
Fetal anomalies v2.0 SOX17 Gene migrated from ENSG00000164736 to ENSG00000164736 (gene set migration)
Fetal anomalies v2.0 UQCRB Gene migrated from ENSG00000156467 to ENSG00000156467 (gene set migration)
Fetal anomalies v2.0 GNB5 Gene migrated from ENSG00000069966 to ENSG00000069966 (gene set migration)
Fetal anomalies v2.0 UNC13A Gene migrated from ENSG00000130477 to ENSG00000130477 (gene set migration)
Fetal anomalies v2.0 NDUFS7 Gene migrated from ENSG00000115286 to ENSG00000115286 (gene set migration)
Fetal anomalies v2.0 UBTF Gene migrated from ENSG00000108312 to ENSG00000108312 (gene set migration)
Fetal anomalies v2.0 ADA Gene migrated from ENSG00000196839 to ENSG00000196839 (gene set migration)
Fetal anomalies v2.0 TUSC3 Gene migrated from ENSG00000104723 to ENSG00000104723 (gene set migration)
Fetal anomalies v2.0 LYST Gene migrated from ENSG00000143669 to ENSG00000143669 (gene set migration)
Fetal anomalies v2.0 TSEN34 Gene migrated from ENSG00000170892 to ENSG00000170892 (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 BRWD1 Gene migrated from ENSG00000185658 to ENSG00000185658 (gene set migration)
Fetal anomalies v2.0 NEK10 Gene migrated from ENSG00000163491 to ENSG00000163491 (gene set migration)
Fetal anomalies v2.0 MECR Gene migrated from ENSG00000116353 to ENSG00000116353 (gene set migration)
Fetal anomalies v2.0 PDSS2 Gene migrated from ENSG00000164494 to ENSG00000164494 (gene set migration)
Fetal anomalies v2.0 IRX4 Gene migrated from ENSG00000113430 to ENSG00000113430 (gene set migration)
Fetal anomalies v2.0 ALDH1B1 Gene migrated from ENSG00000137124 to ENSG00000137124 (gene set migration)
Fetal anomalies v2.0 ALDH7A1 Gene migrated from ENSG00000164904 to ENSG00000164904 (gene set migration)
Fetal anomalies v2.0 MUC3A Gene migrated from ENSG00000169894 to ENSG00000169894 (gene set migration)
Fetal anomalies v2.0 ALDH3A2 Gene migrated from ENSG00000072210 to ENSG00000072210 (gene set migration)
Fetal anomalies v2.0 PLEKHM1 Gene migrated from ENSG00000225190 to ENSG00000225190 (gene set migration)
Fetal anomalies v2.0 AGL Gene migrated from ENSG00000162688 to ENSG00000162688 (gene set migration)
Fetal anomalies v2.0 CCDC57 Gene migrated from ENSG00000176155 to ENSG00000176155 (gene set migration)
Fetal anomalies v2.0 RPH3A Gene migrated from ENSG00000089169 to ENSG00000089169 (gene set migration)
Fetal anomalies v2.0 MAN1B1 Gene migrated from ENSG00000177239 to ENSG00000177239 (gene set migration)
Fetal anomalies v2.0 TTC19 Gene migrated from ENSG00000011295 to ENSG00000011295 (gene set migration)
Fetal anomalies v2.0 ENO1 Gene migrated from ENSG00000074800 to ENSG00000074800 (gene set migration)
Fetal anomalies v2.0 PHIP Gene migrated from ENSG00000146247 to ENSG00000146247 (gene set migration)
Fetal anomalies v2.0 ADAR Gene migrated from ENSG00000160710 to ENSG00000160710 (gene set migration)
Fetal anomalies v2.0 GDF3 Gene migrated from ENSG00000184344 to ENSG00000184344 (gene set migration)
Fetal anomalies v2.0 TCF20 Gene migrated from ENSG00000100207 to ENSG00000100207 (gene set migration)
Fetal anomalies v2.0 NT5C3A Gene migrated from ENSG00000122643 to ENSG00000122643 (gene set migration)
Fetal anomalies v2.0 PHF6 Gene migrated from ENSG00000156531 to ENSG00000156531 (gene set migration)
Fetal anomalies v2.0 SLC25A1 Gene migrated from ENSG00000100075 to ENSG00000100075 (gene set migration)
Fetal anomalies v2.0 PCYT1A Gene migrated from ENSG00000161217 to ENSG00000161217 (gene set migration)
Fetal anomalies v2.0 NDUFS4 Gene migrated from ENSG00000164258 to ENSG00000164258 (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 SERPINA11 Gene migrated from ENSG00000186910 to ENSG00000186910 (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 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 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 SOX5 Gene migrated from ENSG00000134532 to ENSG00000134532 (gene set migration)
Fetal anomalies v2.0 TBL1X Gene migrated from ENSG00000101849 to ENSG00000101849 (gene set migration)
Fetal anomalies v2.0 MMP13 Gene migrated from ENSG00000137745 to ENSG00000137745 (gene set migration)
Fetal anomalies v2.0 DNM1 Gene migrated from ENSG00000106976 to ENSG00000106976 (gene set migration)
Fetal anomalies v2.0 SGCG Gene migrated from ENSG00000102683 to ENSG00000102683 (gene set migration)
Fetal anomalies v2.0 LRBA Gene migrated from ENSG00000198589 to ENSG00000198589 (gene set migration)
Fetal anomalies v2.0 NDUFS1 Gene migrated from ENSG00000023228 to ENSG00000023228 (gene set migration)
Fetal anomalies v2.0 DUOXA2 Gene migrated from ENSG00000140274 to ENSG00000140274 (gene set migration)
Fetal anomalies v2.0 SETD1A Gene migrated from ENSG00000099381 to ENSG00000099381 (gene set migration)
Fetal anomalies v2.0 NDUFA1 Gene migrated from ENSG00000125356 to ENSG00000125356 (gene set migration)
Fetal anomalies v2.0 CDC6 Gene migrated from ENSG00000094804 to ENSG00000094804 (gene set migration)
Fetal anomalies v2.0 UPF3B Gene migrated from ENSG00000125351 to ENSG00000125351 (gene set migration)
Fetal anomalies v2.0 KRT74 Gene migrated from ENSG00000170484 to ENSG00000170484 (gene set migration)
Fetal anomalies v2.0 MPV17 Gene migrated from ENSG00000115204 to ENSG00000115204 (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 SCYL1 Gene migrated from ENSG00000142186 to ENSG00000142186 (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 MECP2 Gene migrated from ENSG00000169057 to ENSG00000169057 (gene set migration)
Fetal anomalies v2.0 KCNC3 Gene migrated from ENSG00000131398 to ENSG00000131398 (gene set migration)
Fetal anomalies v2.0 HEXB Gene migrated from ENSG00000049860 to ENSG00000049860 (gene set migration)
Fetal anomalies v2.0 MAT1A Gene migrated from ENSG00000151224 to ENSG00000151224 (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 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 DUOX2 Gene migrated from ENSG00000140279 to ENSG00000140279 (gene set migration)
Fetal anomalies v2.0 MCF2 Gene migrated from ENSG00000101977 to ENSG00000101977 (gene set migration)
Fetal anomalies v2.0 TSPAN7 Gene migrated from ENSG00000156298 to ENSG00000156298 (gene set migration)
Fetal anomalies v2.0 HPD Gene migrated from ENSG00000158104 to ENSG00000158104 (gene set migration)
Fetal anomalies v2.0 HOXB1 Gene migrated from ENSG00000120094 to ENSG00000120094 (gene set migration)
Fetal anomalies v2.0 DUOX1 Gene migrated from ENSG00000137857 to ENSG00000137857 (gene set migration)
Fetal anomalies v2.0 ETHE1 Gene migrated from ENSG00000105755 to ENSG00000105755 (gene set migration)
Fetal anomalies v2.0 LAMB3 Gene migrated from ENSG00000196878 to ENSG00000196878 (gene set migration)
Fetal anomalies v2.0 SLC6A17 Gene migrated from ENSG00000197106 to ENSG00000197106 (gene set migration)
Fetal anomalies v2.0 KCTD7 Gene migrated from ENSG00000243335 to ENSG00000243335 (gene set migration)
Fetal anomalies v2.0 GRM1 Gene migrated from ENSG00000152822 to ENSG00000152822 (gene set migration)
Fetal anomalies v2.0 ITGA7 Gene migrated from ENSG00000135424 to ENSG00000135424 (gene set migration)
Fetal anomalies v2.0 KCNQ3 Gene migrated from ENSG00000184156 to ENSG00000184156 (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 INTS8 Gene migrated from ENSG00000164941 to ENSG00000164941 (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 QSER1 Gene migrated from ENSG00000060749 to ENSG00000060749 (gene set migration)
Fetal anomalies v2.0 AGMO Gene migrated from ENSG00000187546 to ENSG00000187546 (gene set migration)
Fetal anomalies v2.0 RAB33B Gene migrated from ENSG00000172007 to ENSG00000172007 (gene set migration)
Fetal anomalies v2.0 DSTYK Gene migrated from ENSG00000133059 to ENSG00000133059 (gene set migration)
Fetal anomalies v2.0 KCNQ2 Gene migrated from ENSG00000075043 to ENSG00000075043 (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 SGMS2 Gene migrated from ENSG00000164023 to ENSG00000164023 (gene set migration)
Fetal anomalies v2.0 FAH Gene migrated from ENSG00000103876 to ENSG00000103876 (gene set migration)
Fetal anomalies v2.0 GFPT1 Gene migrated from ENSG00000198380 to ENSG00000198380 (gene set migration)
Fetal anomalies v2.0 TGFB1 Gene migrated from ENSG00000105329 to ENSG00000105329 (gene set migration)
Fetal anomalies v2.0 FGF12 Gene migrated from ENSG00000114279 to ENSG00000114279 (gene set migration)
Fetal anomalies v2.0 GANAB Gene migrated from ENSG00000089597 to ENSG00000089597 (gene set migration)
Fetal anomalies v2.0 MORC2 Gene migrated from ENSG00000133422 to ENSG00000133422 (gene set migration)
Fetal anomalies v2.0 SLC45A1 Gene migrated from ENSG00000162426 to ENSG00000162426 (gene set migration)
Fetal anomalies v2.0 ARSA Gene migrated from ENSG00000100299 to ENSG00000100299 (gene set migration)
Fetal anomalies v2.0 WAC Gene migrated from ENSG00000095787 to ENSG00000095787 (gene set migration)
Fetal anomalies v2.0 FERMT3 Gene migrated from ENSG00000149781 to ENSG00000149781 (gene set migration)
Fetal anomalies v2.0 G6PD Gene migrated from ENSG00000160211 to ENSG00000160211 (gene set migration)
Fetal anomalies v2.0 FOXL2 Gene migrated from ENSG00000183770 to ENSG00000183770 (gene set migration)
Fetal anomalies v2.0 TEK Gene migrated from ENSG00000120156 to ENSG00000120156 (gene set migration)
Fetal anomalies v2.0 ERMARD Gene migrated from ENSG00000130023 to ENSG00000130023 (gene set migration)
Fetal anomalies v2.0 KBTBD13 Gene migrated from ENSG00000234438 to ENSG00000234438 (gene set migration)
Fetal anomalies v2.0 SET Gene migrated from ENSG00000119335 to ENSG00000119335 (gene set migration)
Fetal anomalies v2.0 EXPH5 Gene migrated from ENSG00000110723 to ENSG00000110723 (gene set migration)
Fetal anomalies v2.0 TBXAS1 Gene migrated from ENSG00000059377 to ENSG00000059377 (gene set migration)
Fetal anomalies v2.0 BMPR2 Gene migrated from ENSG00000204217 to ENSG00000204217 (gene set migration)
Fetal anomalies v2.0 GPT2 Gene migrated from ENSG00000166123 to ENSG00000166123 (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 SERPINF1 Gene migrated from ENSG00000132386 to ENSG00000132386 (gene set migration)
Fetal anomalies v2.0 ITPR1 Gene migrated from ENSG00000150995 to ENSG00000150995 (gene set migration)
Fetal anomalies v2.0 PYCR2 Gene migrated from ENSG00000143811 to ENSG00000143811 (gene set migration)
Fetal anomalies v2.0 EOMES Gene migrated from ENSG00000163508 to ENSG00000163508 (gene set migration)
Fetal anomalies v2.0 IQSEC2 Gene migrated from ENSG00000124313 to ENSG00000124313 (gene set migration)
Fetal anomalies v2.0 HYDIN Gene migrated from ENSG00000157423 to ENSG00000157423 (gene set migration)
Fetal anomalies v2.0 DNM2 Gene migrated from ENSG00000079805 to ENSG00000079805 (gene set migration)
Fetal anomalies v2.0 HYAL1 Gene migrated from ENSG00000114378 to ENSG00000114378 (gene set migration)
Fetal anomalies v2.0 GLA Gene migrated from ENSG00000102393 to ENSG00000102393 (gene set migration)
Fetal anomalies v2.0 NRXN2 Gene migrated from ENSG00000110076 to ENSG00000110076 (gene set migration)
Fetal anomalies v2.0 UFC1 Gene migrated from ENSG00000143222 to ENSG00000143222 (gene set migration)
Fetal anomalies v2.0 LHX3 Gene migrated from ENSG00000107187 to ENSG00000107187 (gene set migration)
Fetal anomalies v2.0 PROP1 Gene migrated from ENSG00000175325 to ENSG00000175325 (gene set migration)
Fetal anomalies v2.0 DNAJC12 Gene migrated from ENSG00000108176 to ENSG00000108176 (gene set migration)
Fetal anomalies v2.0 GMPPA Gene migrated from ENSG00000144591 to ENSG00000144591 (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 TCN2 Gene migrated from ENSG00000185339 to ENSG00000185339 (gene set migration)
Fetal anomalies v2.0 HADH Gene migrated from ENSG00000138796 to ENSG00000138796 (gene set migration)
Fetal anomalies v2.0 L2HGDH Gene migrated from ENSG00000087299 to ENSG00000087299 (gene set migration)
Fetal anomalies v2.0 STAG1 Gene migrated from ENSG00000118007 to ENSG00000118007 (gene set migration)
Fetal anomalies v2.0 CUX2 Gene migrated from ENSG00000111249 to ENSG00000111249 (gene set migration)
Fetal anomalies v2.0 CFAP57 Gene migrated from ENSG00000243710 to ENSG00000243710 (gene set migration)
Fetal anomalies v2.0 DHFR Gene migrated from ENSG00000228716 to ENSG00000228716 (gene set migration)
Fetal anomalies v2.0 SPTBN5 Gene migrated from ENSG00000137877 to ENSG00000137877 (gene set migration)
Fetal anomalies v2.0 GLMN Gene migrated from ENSG00000174842 to ENSG00000174842 (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 SPTBN2 Gene migrated from ENSG00000173898 to ENSG00000173898 (gene set migration)
Fetal anomalies v2.0 CHKA Gene migrated from ENSG00000110721 to ENSG00000110721 (gene set migration)
Fetal anomalies v2.0 SP110 Gene migrated from ENSG00000135899 to ENSG00000135899 (gene set migration)
Fetal anomalies v2.0 CDCA8 Gene migrated from ENSG00000134690 to ENSG00000134690 (gene set migration)
Fetal anomalies v2.0 DNAH8 Gene migrated from ENSG00000124721 to ENSG00000124721 (gene set migration)
Fetal anomalies v2.0 WDR45 Gene migrated from ENSG00000196998 to ENSG00000196998 (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 RRM2B Gene migrated from ENSG00000048392 to ENSG00000048392 (gene set migration)
Fetal anomalies v2.0 AUH Gene migrated from ENSG00000148090 to ENSG00000148090 (gene set migration)
Fetal anomalies v2.0 TRIP12 Gene migrated from ENSG00000153827 to ENSG00000153827 (gene set migration)
Fetal anomalies v2.0 CNKSR2 Gene migrated from ENSG00000149970 to ENSG00000149970 (gene set migration)
Fetal anomalies v2.0 NUF2 Gene migrated from ENSG00000143228 to ENSG00000143228 (gene set migration)
Fetal anomalies v2.0 CFAP43 Gene migrated from ENSG00000197748 to ENSG00000197748 (gene set migration)
Fetal anomalies v2.0 CNBP Gene migrated from ENSG00000169714 to ENSG00000169714 (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 SLC46A1 Gene migrated from ENSG00000076351 to ENSG00000076351 (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 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 SLC39A13 Gene migrated from ENSG00000165915 to ENSG00000165915 (gene set migration)
Fetal anomalies v2.0 ACVR2B Gene migrated from ENSG00000114739 to ENSG00000114739 (gene set migration)
Fetal anomalies v2.0 PAICS Gene migrated from ENSG00000128050 to ENSG00000128050 (gene set migration)
Fetal anomalies v2.0 HOXB6 Gene migrated from ENSG00000108511 to ENSG00000108511 (gene set migration)
Fetal anomalies v2.0 ADD3 Gene migrated from ENSG00000148700 to ENSG00000148700 (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 SIX1 Gene migrated from ENSG00000126778 to ENSG00000126778 (gene set migration)
Fetal anomalies v2.0 CCDC78 Gene migrated from ENSG00000162004 to ENSG00000162004 (gene set migration)
Fetal anomalies v2.0 DLD Gene migrated from ENSG00000091140 to ENSG00000091140 (gene set migration)
Fetal anomalies v2.0 EMX2 Gene migrated from ENSG00000170370 to ENSG00000170370 (gene set migration)
Fetal anomalies v2.0 IQCB1 Gene migrated from ENSG00000173226 to ENSG00000173226 (gene set migration)
Fetal anomalies v2.0 CASR Gene migrated from ENSG00000036828 to ENSG00000036828 (gene set migration)
Fetal anomalies v2.0 CARS2 Gene migrated from ENSG00000134905 to ENSG00000134905 (gene set migration)
Fetal anomalies v2.0 DHH Gene migrated from ENSG00000139549 to ENSG00000139549 (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 PDE10A Gene migrated from ENSG00000112541 to ENSG00000112541 (gene set migration)
Fetal anomalies v2.0 DDHD2 Gene migrated from ENSG00000085788 to ENSG00000085788 (gene set migration)
Fetal anomalies v2.0 DARS2 Gene migrated from ENSG00000117593 to ENSG00000117593 (gene set migration)
Fetal anomalies v2.0 PDSS1 Gene migrated from ENSG00000148459 to ENSG00000148459 (gene set migration)
Fetal anomalies v2.0 ALDOB Gene migrated from ENSG00000136872 to ENSG00000136872 (gene set migration)
Fetal anomalies v2.0 DDB2 Gene migrated from ENSG00000134574 to ENSG00000134574 (gene set migration)
Fetal anomalies v2.0 KIF26B Gene migrated from ENSG00000162849 to ENSG00000162849 (gene set migration)
Fetal anomalies v2.0 CYP19A1 Gene migrated from ENSG00000137869 to ENSG00000137869 (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 CSTB Gene migrated from ENSG00000160213 to ENSG00000160213 (gene set migration)
Fetal anomalies v2.0 CSTA Gene migrated from ENSG00000121552 to ENSG00000121552 (gene set migration)
Fetal anomalies v2.0 SIM1 Gene migrated from ENSG00000112246 to ENSG00000112246 (gene set migration)
Fetal anomalies v2.0 MED11 Gene migrated from ENSG00000161920 to ENSG00000161920 (gene set migration)
Fetal anomalies v2.0 CNOT1 Gene migrated from ENSG00000125107 to ENSG00000125107 (gene set migration)
Fetal anomalies v2.0 FGF4 Gene migrated from ENSG00000075388 to ENSG00000075388 (gene set migration)
Fetal anomalies v2.0 CCDC28B Gene migrated from ENSG00000160050 to ENSG00000160050 (gene set migration)
Fetal anomalies v2.0 FZD6 Gene migrated from ENSG00000164930 to ENSG00000164930 (gene set migration)
Fetal anomalies v2.0 WDR11 Gene migrated from ENSG00000120008 to ENSG00000120008 (gene set migration)
Fetal anomalies v2.0 UNC80 Gene migrated from ENSG00000144406 to ENSG00000144406 (gene set migration)
Fetal anomalies v2.0 FOXH1 Gene migrated from ENSG00000160973 to ENSG00000160973 (gene set migration)
Fetal anomalies v2.0 SIX6 Gene migrated from ENSG00000184302 to ENSG00000184302 (gene set migration)
Fetal anomalies v2.0 RPS29 Gene migrated from ENSG00000213741 to ENSG00000213741 (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 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 PPP3CA Gene migrated from ENSG00000138814 to ENSG00000138814 (gene set migration)
Fetal anomalies v2.0 HOXA11 Gene migrated from ENSG00000005073 to ENSG00000005073 (gene set migration)
Fetal anomalies v2.0 NPM1 Gene migrated from ENSG00000181163 to ENSG00000181163 (gene set migration)
Fetal anomalies v2.0 CDK9 Gene migrated from ENSG00000136807 to ENSG00000136807 (gene set migration)
Fetal anomalies v2.0 RRAS Gene migrated from ENSG00000126458 to ENSG00000126458 (gene set migration)
Fetal anomalies v2.0 SLC25A20 Gene migrated from ENSG00000178537 to ENSG00000178537 (gene set migration)
Fetal anomalies v2.0 RPS23 Gene migrated from ENSG00000186468 to ENSG00000186468 (gene set migration)
Fetal anomalies v2.0 TNXB Gene migrated from ENSG00000168477 to ENSG00000168477 (gene set migration)
Fetal anomalies v2.0 ZNF668 Gene migrated from ENSG00000167394 to ENSG00000167394 (gene set migration)
Fetal anomalies v2.0 PUS7 Gene migrated from ENSG00000091127 to ENSG00000091127 (gene set migration)
Fetal anomalies v2.0 TERT Gene migrated from ENSG00000164362 to ENSG00000164362 (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 CHST11 Gene migrated from ENSG00000171310 to ENSG00000171310 (gene set migration)
Fetal anomalies v2.0 PPP1R15B Gene migrated from ENSG00000158615 to ENSG00000158615 (gene set migration)
Fetal anomalies v2.0 PREPL Gene migrated from ENSG00000138078 to ENSG00000138078 (gene set migration)
Fetal anomalies v2.0 PRDM15 Gene migrated from ENSG00000141956 to ENSG00000141956 (gene set migration)
Fetal anomalies v2.0 SLC30A7 Gene migrated from ENSG00000162695 to ENSG00000162695 (gene set migration)
Fetal anomalies v2.0 SLC31A1 Gene migrated from ENSG00000136868 to ENSG00000136868 (gene set migration)
Fetal anomalies v2.0 NAGA Gene migrated from ENSG00000198951 to ENSG00000198951 (gene set migration)
Fetal anomalies v2.0 IFT57 Gene migrated from ENSG00000114446 to ENSG00000114446 (gene set migration)
Fetal anomalies v2.0 ADARB1 Gene migrated from ENSG00000197381 to ENSG00000197381 (gene set migration)
Fetal anomalies v2.0 NUAK2 Gene migrated from ENSG00000163545 to ENSG00000163545 (gene set migration)
Fetal anomalies v2.0 PTHLH Gene migrated from ENSG00000087494 to ENSG00000087494 (gene set migration)
Fetal anomalies v2.0 NSUN2 Gene migrated from ENSG00000037474 to ENSG00000037474 (gene set migration)
Fetal anomalies v2.0 SDHA Gene migrated from ENSG00000073578 to ENSG00000073578 (gene set migration)
Fetal anomalies v2.0 NDUFA10 Gene migrated from ENSG00000130414 to ENSG00000130414 (gene set migration)
Fetal anomalies v2.0 ATP9A Gene migrated from ENSG00000054793 to ENSG00000054793 (gene set migration)
Fetal anomalies v2.0 PTEN Gene migrated from ENSG00000171862 to ENSG00000171862 (gene set migration)
Fetal anomalies v2.0 POLG Gene migrated from ENSG00000140521 to ENSG00000140521 (gene set migration)
Fetal anomalies v2.0 PLCH1 Gene migrated from ENSG00000114805 to ENSG00000114805 (gene set migration)
Fetal anomalies v2.0 ABHD5 Gene migrated from ENSG00000011198 to ENSG00000011198 (gene set migration)
Fetal anomalies v2.0 MIR17HG Gene migrated from ENSG00000215417 to ENSG00000215417 (gene set migration)
Fetal anomalies v2.0 PDHB Gene migrated from ENSG00000168291 to ENSG00000168291 (gene set migration)
Fetal anomalies v2.0 PDHX Gene migrated from ENSG00000110435 to ENSG00000110435 (gene set migration)
Fetal anomalies v2.0 ASTN1 Gene migrated from ENSG00000152092 to ENSG00000152092 (gene set migration)
Fetal anomalies v2.0 PAX8 Gene migrated from ENSG00000125618 to ENSG00000125618 (gene set migration)
Fetal anomalies v2.0 PRIM1 Gene migrated from ENSG00000198056 to ENSG00000198056 (gene set migration)
Fetal anomalies v2.0 KPTN Gene migrated from ENSG00000118162 to ENSG00000118162 (gene set migration)
Fetal anomalies v2.0 ISLR2 Gene migrated from ENSG00000167178 to ENSG00000167178 (gene set migration)
Fetal anomalies v2.0 GOLGA2 Gene migrated from ENSG00000167110 to ENSG00000167110 (gene set migration)
Fetal anomalies v2.0 PURA Gene migrated from ENSG00000185129 to ENSG00000185129 (gene set migration)
Fetal anomalies v2.0 VPS50 Gene migrated from ENSG00000004766 to ENSG00000004766 (gene set migration)
Fetal anomalies v2.0 MGAT2 Gene migrated from ENSG00000168282 to ENSG00000168282 (gene set migration)
Fetal anomalies v2.0 NR0B1 Gene migrated from ENSG00000169297 to ENSG00000169297 (gene set migration)
Fetal anomalies v2.0 PLK1 Gene migrated from ENSG00000166851 to ENSG00000166851 (gene set migration)
Fetal anomalies v2.0 ROBO4 Gene migrated from ENSG00000154133 to ENSG00000154133 (gene set migration)
Fetal anomalies v2.0 LMOD1 Gene migrated from ENSG00000163431 to ENSG00000163431 (gene set migration)
Fetal anomalies v2.0 ATP11A Gene migrated from ENSG00000068650 to ENSG00000068650 (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 GM2A Gene migrated from ENSG00000196743 to ENSG00000196743 (gene set migration)
Fetal anomalies v2.0 FRYL Gene migrated from ENSG00000075539 to ENSG00000075539 (gene set migration)
Fetal anomalies v2.0 MMP15 Gene migrated from ENSG00000102996 to ENSG00000102996 (gene set migration)
Fetal anomalies v2.0 GALNT2 Gene migrated from ENSG00000143641 to ENSG00000143641 (gene set migration)
Fetal anomalies v2.0 MESP1 Gene migrated from ENSG00000166823 to ENSG00000166823 (gene set migration)
Fetal anomalies v2.0 FOXP4 Gene migrated from ENSG00000137166 to ENSG00000137166 (gene set migration)
Fetal anomalies v2.0 FN1 Gene migrated from ENSG00000115414 to ENSG00000115414 (gene set migration)
Fetal anomalies v2.0 SRPK3 Gene migrated from ENSG00000184343 to ENSG00000184343 (gene set migration)
Fetal anomalies v2.0 JAGN1 Gene migrated from ENSG00000171135 to ENSG00000171135 (gene set migration)
Fetal anomalies v2.0 WNT9B Gene migrated from ENSG00000158955 to ENSG00000158955 (gene set migration)
Fetal anomalies v2.0 GON7 Gene migrated from ENSG00000170270 to ENSG00000170270 (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 HDAC4 Gene migrated from ENSG00000068024 to ENSG00000068024 (gene set migration)
Fetal anomalies v2.0 HACE1 Gene migrated from ENSG00000085382 to ENSG00000085382 (gene set migration)
Fetal anomalies v2.0 CYB5R3 Gene migrated from ENSG00000100243 to ENSG00000100243 (gene set migration)
Fetal anomalies v2.0 GRIA3 Gene migrated from ENSG00000125675 to ENSG00000125675 (gene set migration)
Fetal anomalies v2.0 CRELD1 Gene migrated from ENSG00000163703 to ENSG00000163703 (gene set migration)
Fetal anomalies v2.0 MYO9A Gene migrated from ENSG00000066933 to ENSG00000066933 (gene set migration)
Fetal anomalies v2.0 SNAP25 Gene migrated from ENSG00000132639 to ENSG00000132639 (gene set migration)
Fetal anomalies v2.0 GATAD2B Gene migrated from ENSG00000143614 to ENSG00000143614 (gene set migration)
Fetal anomalies v2.0 LAMB2 Gene migrated from ENSG00000172037 to ENSG00000172037 (gene set migration)
Fetal anomalies v2.0 CNTN1 Gene migrated from ENSG00000018236 to ENSG00000018236 (gene set migration)
Fetal anomalies v2.0 CHUK Gene migrated from ENSG00000213341 to ENSG00000213341 (gene set migration)
Fetal anomalies v2.0 FRMD4A Gene migrated from ENSG00000151474 to ENSG00000151474 (gene set migration)
Fetal anomalies v2.0 CAMK2B Gene migrated from ENSG00000058404 to ENSG00000058404 (gene set migration)
Fetal anomalies v2.0 FGF20 Gene migrated from ENSG00000078579 to ENSG00000078579 (gene set migration)
Fetal anomalies v2.0 ERCC6L2 Gene migrated from ENSG00000182150 to ENSG00000182150 (gene set migration)
Fetal anomalies v2.0 ENPP1 Gene migrated from ENSG00000197594 to ENSG00000197594 (gene set migration)
Fetal anomalies v2.0 SOX3 Gene migrated from ENSG00000134595 to ENSG00000134595 (gene set migration)
Fetal anomalies v2.0 CACNA1G Gene migrated from ENSG00000006283 to ENSG00000006283 (gene set migration)
Fetal anomalies v2.0 BPTF Gene migrated from ENSG00000171634 to ENSG00000171634 (gene set migration)
Fetal anomalies v2.0 COX10 Gene migrated from ENSG00000006695 to ENSG00000006695 (gene set migration)
Fetal anomalies v2.0 B3GNT2 Gene migrated from ENSG00000170340 to ENSG00000170340 (gene set migration)
Fetal anomalies v2.0 NPC2 Gene migrated from ENSG00000119655 to ENSG00000119655 (gene set migration)
Fetal anomalies v2.0 CEP63 Gene migrated from ENSG00000182923 to ENSG00000182923 (gene set migration)
Fetal anomalies v2.0 BRWD3 Gene migrated from ENSG00000165288 to ENSG00000165288 (gene set migration)
Fetal anomalies v2.0 MAFB Gene migrated from ENSG00000204103 to ENSG00000204103 (gene set migration)
Fetal anomalies v2.0 ALG11 Gene migrated from ENSG00000253710 to ENSG00000253710 (gene set migration)
Fetal anomalies v2.0 ACO2 Gene migrated from ENSG00000100412 to ENSG00000100412 (gene set migration)
Fetal anomalies v2.0 ABCD4 Gene migrated from ENSG00000119688 to ENSG00000119688 (gene set migration)
Fetal anomalies v2.0 BOLA3 Gene migrated from ENSG00000163170 to ENSG00000163170 (gene set migration)
Fetal anomalies v2.0 EMG1 Gene migrated from ENSG00000126749 to ENSG00000126749 (gene set migration)
Fetal anomalies v2.0 WDR26 Gene migrated from ENSG00000162923 to ENSG00000162923 (gene set migration)
Fetal anomalies v2.0 ATXN2L Gene migrated from ENSG00000168488 to ENSG00000168488 (gene set migration)
Fetal anomalies v2.0 PSAP Gene migrated from ENSG00000197746 to ENSG00000197746 (gene set migration)
Fetal anomalies v2.0 PJA1 Gene migrated from ENSG00000181191 to ENSG00000181191 (gene set migration)
Fetal anomalies v2.0 ALG13 Gene migrated from ENSG00000101901 to ENSG00000101901 (gene set migration)
Fetal anomalies v2.0 AP3B2 Gene migrated from ENSG00000103723 to ENSG00000103723 (gene set migration)
Fetal anomalies v2.0 DOLK Gene migrated from ENSG00000175283 to ENSG00000175283 (gene set migration)
Fetal anomalies v2.0 VPS13B Gene migrated from ENSG00000132549 to ENSG00000132549 (gene set migration)
Fetal anomalies v2.0 WNT4 Gene migrated from ENSG00000162552 to ENSG00000162552 (gene set migration)
Fetal anomalies v2.0 SLC30A5 Gene migrated from ENSG00000145740 to ENSG00000145740 (gene set migration)
Fetal anomalies v2.0 CCDC88A Gene migrated from ENSG00000115355 to ENSG00000115355 (gene set migration)
Fetal anomalies v2.0 WDR81 Gene migrated from ENSG00000167716 to ENSG00000167716 (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 VEGFC Gene migrated from ENSG00000150630 to ENSG00000150630 (gene set migration)
Fetal anomalies v2.0 PLEKHA7 Gene migrated from ENSG00000166689 to ENSG00000166689 (gene set migration)
Fetal anomalies v2.0 DCAF15 Gene migrated from ENSG00000132017 to ENSG00000132017 (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 NKX2-1 Gene migrated from ENSG00000136352 to ENSG00000136352 (gene set migration)
Fetal anomalies v2.0 LRP6 Gene migrated from ENSG00000070018 to ENSG00000070018 (gene set migration)
Fetal anomalies v2.0 RFWD3 Gene migrated from ENSG00000168411 to ENSG00000168411 (gene set migration)
Fetal anomalies v2.0 HOXD12 Gene migrated from ENSG00000170178 to ENSG00000170178 (gene set migration)
Fetal anomalies v2.0 SNX14 Gene migrated from ENSG00000135317 to ENSG00000135317 (gene set migration)
Fetal anomalies v2.0 SLC37A4 Gene migrated from ENSG00000137700 to ENSG00000137700 (gene set migration)
Fetal anomalies v2.0 DHRS3 Gene migrated from ENSG00000162496 to ENSG00000162496 (gene set migration)
Fetal anomalies v2.0 MFN2 Gene migrated from ENSG00000116688 to ENSG00000116688 (gene set migration)
Fetal anomalies v2.0 TKT Gene migrated from ENSG00000163931 to ENSG00000163931 (gene set migration)
Fetal anomalies v2.0 SLC16A2 Gene migrated from ENSG00000147100 to ENSG00000147100 (gene set migration)
Fetal anomalies v2.0 TECPR2 Gene migrated from ENSG00000196663 to ENSG00000196663 (gene set migration)
Fetal anomalies v2.0 GATA5 Gene migrated from ENSG00000130700 to ENSG00000130700 (gene set migration)
Fetal anomalies v2.0 THRB Gene migrated from ENSG00000151090 to ENSG00000151090 (gene set migration)
Fetal anomalies v2.0 KIF3B Gene migrated from ENSG00000101350 to ENSG00000101350 (gene set migration)
Fetal anomalies v2.0 GATA2 Gene migrated from ENSG00000179348 to ENSG00000179348 (gene set migration)
Fetal anomalies v2.0 TAF13 Gene migrated from ENSG00000197780 to ENSG00000197780 (gene set migration)
Fetal anomalies v2.0 SLIT2 Gene migrated from ENSG00000145147 to ENSG00000145147 (gene set migration)
Fetal anomalies v2.0 SLC18A3 Gene migrated from ENSG00000187714 to ENSG00000187714 (gene set migration)
Fetal anomalies v2.0 TBC1D7 Gene migrated from ENSG00000145979 to ENSG00000145979 (gene set migration)
Fetal anomalies v2.0 TAPT1 Gene migrated from ENSG00000169762 to ENSG00000169762 (gene set migration)
Fetal anomalies v2.0 SHROOM3 Gene migrated from ENSG00000138771 to ENSG00000138771 (gene set migration)
Fetal anomalies v2.0 CHD3 Gene migrated from ENSG00000170004 to ENSG00000170004 (gene set migration)
Fetal anomalies v2.0 INPP5K Gene migrated from ENSG00000132376 to ENSG00000132376 (gene set migration)
Fetal anomalies v2.0 NOG Gene migrated from ENSG00000183691 to ENSG00000183691 (gene set migration)
Fetal anomalies v2.0 SRGAP1 Gene migrated from ENSG00000196935 to ENSG00000196935 (gene set migration)
Fetal anomalies v2.0 STAT5B Gene migrated from ENSG00000173757 to ENSG00000173757 (gene set migration)
Fetal anomalies v2.0 SPG11 Gene migrated from ENSG00000104133 to ENSG00000104133 (gene set migration)
Fetal anomalies v2.0 HSD17B10 Gene migrated from ENSG00000072506 to ENSG00000072506 (gene set migration)
Fetal anomalies v2.0 SLC6A8 Gene migrated from ENSG00000130821 to ENSG00000130821 (gene set migration)
Fetal anomalies v2.0 SLC35A1 Gene migrated from ENSG00000164414 to ENSG00000164414 (gene set migration)
Fetal anomalies v2.0 GRHL2 Gene migrated from ENSG00000083307 to ENSG00000083307 (gene set migration)
Fetal anomalies v2.0 SIRT6 Gene migrated from ENSG00000077463 to ENSG00000077463 (gene set migration)
Fetal anomalies v2.0 DBR1 Gene migrated from ENSG00000138231 to ENSG00000138231 (gene set migration)
Fetal anomalies v2.0 RASA2 Gene migrated from ENSG00000155903 to ENSG00000155903 (gene set migration)
Fetal anomalies v2.0 ZDHHC9 Gene migrated from ENSG00000188706 to ENSG00000188706 (gene set migration)
Fetal anomalies v2.0 FZD5 Gene migrated from ENSG00000163251 to ENSG00000163251 (gene set migration)
Fetal anomalies v2.0 RORA Gene migrated from ENSG00000069667 to ENSG00000069667 (gene set migration)
Fetal anomalies v2.0 SLC25A26 Gene migrated from ENSG00000144741 to ENSG00000144741 (gene set migration)
Fetal anomalies v2.0 BMP3 Gene migrated from ENSG00000152785 to ENSG00000152785 (gene set migration)
Fetal anomalies v2.0 RFT1 Gene migrated from ENSG00000163933 to ENSG00000163933 (gene set migration)
Fetal anomalies v2.0 TBC1D23 Gene migrated from ENSG00000036054 to ENSG00000036054 (gene set migration)
Fetal anomalies v2.0 GRIK2 Gene migrated from ENSG00000164418 to ENSG00000164418 (gene set migration)
Fetal anomalies v2.0 SLIT3 Gene migrated from ENSG00000184347 to ENSG00000184347 (gene set migration)
Fetal anomalies v2.0 NODAL Gene migrated from ENSG00000156574 to ENSG00000156574 (gene set migration)
Fetal anomalies v2.0 FGD5 Gene migrated from ENSG00000154783 to ENSG00000154783 (gene set migration)
Fetal anomalies v2.0 TBR1 Gene migrated from ENSG00000136535 to ENSG00000136535 (gene set migration)
Fetal anomalies v2.0 NUBP2 Gene migrated from ENSG00000095906 to ENSG00000095906 (gene set migration)
Fetal anomalies v2.0 SLC25A38 Gene migrated from ENSG00000144659 to ENSG00000144659 (gene set migration)
Fetal anomalies v2.0 HSF4 Gene migrated from ENSG00000102878 to ENSG00000102878 (gene set migration)
Fetal anomalies v2.0 MCM7 Gene migrated from ENSG00000166508 to ENSG00000166508 (gene set migration)
Fetal anomalies v2.0 DNAH1 Gene migrated from ENSG00000114841 to ENSG00000114841 (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 FKBP8 Gene migrated from ENSG00000105701 to ENSG00000105701 (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 BCL9L Gene migrated from ENSG00000186174 to ENSG00000186174 (gene set migration)
Fetal anomalies v2.0 PRPS1 Gene migrated from ENSG00000147224 to ENSG00000147224 (gene set migration)
Fetal anomalies v2.0 TRMT10C Gene migrated from ENSG00000174173 to ENSG00000174173 (gene set migration)
Fetal anomalies v2.0 PIGY Gene migrated from ENSG00000255072 to ENSG00000255072 (gene set migration)
Fetal anomalies v2.0 NAA16 Gene migrated from ENSG00000172766 to ENSG00000172766 (gene set migration)
Fetal anomalies v2.0 PIGG Gene migrated from ENSG00000174227 to ENSG00000174227 (gene set migration)
Fetal anomalies v2.0 EIF2B3 Gene migrated from ENSG00000070785 to ENSG00000070785 (gene set migration)
Fetal anomalies v2.0 PGM3 Gene migrated from ENSG00000013375 to ENSG00000013375 (gene set migration)
Fetal anomalies v2.0 TRPM7 Gene migrated from ENSG00000092439 to ENSG00000092439 (gene set migration)
Fetal anomalies v2.0 HAND2 Gene migrated from ENSG00000164107 to ENSG00000164107 (gene set migration)
Fetal anomalies v2.0 NT5C2 Gene migrated from ENSG00000076685 to ENSG00000076685 (gene set migration)
Fetal anomalies v2.0 EDN1 Gene migrated from ENSG00000078401 to ENSG00000078401 (gene set migration)
Fetal anomalies v2.0 DZIP1L Gene migrated from ENSG00000158163 to ENSG00000158163 (gene set migration)
Fetal anomalies v2.0 NUDCD2 Gene migrated from ENSG00000170584 to ENSG00000170584 (gene set migration)
Fetal anomalies v2.0 ASXL3 Gene migrated from ENSG00000141431 to ENSG00000141431 (gene set migration)
Fetal anomalies v2.0 NMNAT2 Gene migrated from ENSG00000157064 to ENSG00000157064 (gene set migration)
Fetal anomalies v2.0 ZNF423 Gene migrated from ENSG00000102935 to ENSG00000102935 (gene set migration)
Fetal anomalies v2.0 ADD1 Gene migrated from ENSG00000087274 to ENSG00000087274 (gene set migration)
Fetal anomalies v2.0 ASPH Gene migrated from ENSG00000198363 to ENSG00000198363 (gene set migration)
Fetal anomalies v2.0 PPP2R5C Gene migrated from ENSG00000078304 to ENSG00000078304 (gene set migration)
Fetal anomalies v2.0 SLC35C1 Gene migrated from ENSG00000181830 to ENSG00000181830 (gene set migration)
Fetal anomalies v2.0 QRICH1 Gene migrated from ENSG00000198218 to ENSG00000198218 (gene set migration)
Fetal anomalies v2.0 AGRN Gene migrated from ENSG00000188157 to ENSG00000188157 (gene set migration)
Fetal anomalies v2.0 PDCD2 Gene migrated from ENSG00000071994 to ENSG00000071994 (gene set migration)
Fetal anomalies v2.0 TBL1XR1 Gene migrated from ENSG00000177565 to ENSG00000177565 (gene set migration)
Fetal anomalies v2.0 TMEM70 Gene migrated from ENSG00000175606 to ENSG00000175606 (gene set migration)
Fetal anomalies v2.0 LINGO1 Gene migrated from ENSG00000169783 to ENSG00000169783 (gene set migration)
Fetal anomalies v2.0 LRRC32 Gene migrated from ENSG00000137507 to ENSG00000137507 (gene set migration)
Fetal anomalies v2.0 DHTKD1 Gene migrated from ENSG00000181192 to ENSG00000181192 (gene set migration)
Fetal anomalies v2.0 MYLK Gene migrated from ENSG00000065534 to ENSG00000065534 (gene set migration)
Fetal anomalies v2.0 AIFM1 Gene migrated from ENSG00000156709 to ENSG00000156709 (gene set migration)
Fetal anomalies v2.0 OXR1 Gene migrated from ENSG00000164830 to ENSG00000164830 (gene set migration)
Fetal anomalies v2.0 AHCY Gene migrated from ENSG00000101444 to ENSG00000101444 (gene set migration)
Fetal anomalies v2.0 MRPS34 Gene migrated from ENSG00000074071 to ENSG00000074071 (gene set migration)
Fetal anomalies v2.0 SEMA3E Gene migrated from ENSG00000170381 to ENSG00000170381 (gene set migration)
Fetal anomalies v2.0 TMEM126B Gene migrated from ENSG00000171204 to ENSG00000171204 (gene set migration)
Fetal anomalies v2.0 LRPPRC Gene migrated from ENSG00000138095 to ENSG00000138095 (gene set migration)
Fetal anomalies v2.0 TRIP13 Gene migrated from ENSG00000071539 to ENSG00000071539 (gene set migration)
Fetal anomalies v2.0 MBOAT7 Gene migrated from ENSG00000125505 to ENSG00000125505 (gene set migration)
Fetal anomalies v2.0 BCORL1 Gene migrated from ENSG00000085185 to ENSG00000085185 (gene set migration)
Fetal anomalies v2.0 TBX2 Gene migrated from ENSG00000121068 to ENSG00000121068 (gene set migration)
Fetal anomalies v2.0 PRDM6 Gene migrated from ENSG00000061455 to ENSG00000061455 (gene set migration)
Fetal anomalies v2.0 DAG1 Gene migrated from ENSG00000173402 to ENSG00000173402 (gene set migration)
Fetal anomalies v2.0 CDK6 Gene migrated from ENSG00000105810 to ENSG00000105810 (gene set migration)
Fetal anomalies v2.0 STX5 Gene migrated from ENSG00000162236 to ENSG00000162236 (gene set migration)
Fetal anomalies v2.0 KMT2E Gene migrated from ENSG00000005483 to ENSG00000005483 (gene set migration)
Fetal anomalies v2.0 LINS1 Gene migrated from ENSG00000140471 to ENSG00000140471 (gene set migration)
Fetal anomalies v2.0 TOPORS Gene migrated from ENSG00000197579 to ENSG00000197579 (gene set migration)
Fetal anomalies v2.0 CLPP Gene migrated from ENSG00000125656 to ENSG00000125656 (gene set migration)
Fetal anomalies v2.0 COX15 Gene migrated from ENSG00000014919 to ENSG00000014919 (gene set migration)
Fetal anomalies v2.0 HEY2 Gene migrated from ENSG00000135547 to ENSG00000135547 (gene set migration)
Fetal anomalies v2.0 FMN1 Gene migrated from ENSG00000248905 to ENSG00000248905 (gene set migration)
Fetal anomalies v2.0 KRIT1 Gene migrated from ENSG00000001631 to ENSG00000001631 (gene set migration)
Fetal anomalies v2.0 KCNJ11 Gene migrated from ENSG00000187486 to ENSG00000187486 (gene set migration)
Fetal anomalies v2.0 GATAD2A Gene migrated from ENSG00000167491 to ENSG00000167491 (gene set migration)
Fetal anomalies v2.0 PLEKHA5 Gene migrated from ENSG00000052126 to ENSG00000052126 (gene set migration)
Fetal anomalies v2.0 CHD8 Gene migrated from ENSG00000100888 to ENSG00000100888 (gene set migration)
Fetal anomalies v2.0 VSX2 Gene migrated from ENSG00000119614 to ENSG00000119614 (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 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 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 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 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 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 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 PITX3 Gene migrated from ENSG00000107859 to ENSG00000107859 (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 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 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 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 HSPA9 Gene migrated from ENSG00000113013 to ENSG00000113013 (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 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 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 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 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 GUCY2C Gene migrated from ENSG00000070019 to ENSG00000070019 (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 KMT2D Gene migrated from ENSG00000167548 to ENSG00000167548 (gene set migration)
Fetal anomalies v2.0 REN Gene migrated from ENSG00000143839 to ENSG00000143839 (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 GAA Gene migrated from ENSG00000171298 to ENSG00000171298 (gene set migration)
Fetal anomalies v2.0 IL11RA Gene migrated from ENSG00000137070 to ENSG00000137070 (gene set migration)
Fetal anomalies v2.0 GALE Gene migrated from ENSG00000117308 to ENSG00000117308 (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 ETFDH Gene migrated from ENSG00000171503 to ENSG00000171503 (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 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 SMAD2 Gene migrated from ENSG00000175387 to ENSG00000175387 (gene set migration)
Fetal anomalies v2.0 KCNJ1 Gene migrated from ENSG00000151704 to ENSG00000151704 (gene set migration)
Fetal anomalies v2.0 EHMT1 Gene migrated from ENSG00000181090 to ENSG00000181090 (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 GPI Gene migrated from ENSG00000105220 to ENSG00000105220 (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 PARP6 Gene migrated from ENSG00000137817 to ENSG00000137817 (gene set migration)
Fetal anomalies v2.0 NPHP1 Gene migrated from ENSG00000144061 to ENSG00000144061 (gene set migration)
Fetal anomalies v2.0 NIPBL Gene migrated from ENSG00000164190 to ENSG00000164190 (gene set migration)
Fetal anomalies v2.0 GORAB Gene migrated from ENSG00000120370 to ENSG00000120370 (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 PGAP3 Gene migrated from ENSG00000161395 to ENSG00000161395 (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 PPP2R1A Gene migrated from ENSG00000105568 to ENSG00000105568 (gene set migration)
Fetal anomalies v2.0 ZBTB24 Gene migrated from ENSG00000112365 to ENSG00000112365 (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 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 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 CYP17A1 Gene migrated from ENSG00000148795 to ENSG00000148795 (gene set migration)
Fetal anomalies v2.0 PDGFRB Gene migrated from ENSG00000113721 to ENSG00000113721 (gene set migration)
Fetal anomalies v2.0 DNMT3A Gene migrated from ENSG00000119772 to ENSG00000119772 (gene set migration)
Fetal anomalies v2.0 DNAI1 Gene migrated from ENSG00000122735 to ENSG00000122735 (gene set migration)
Fetal anomalies v2.0 AGK Gene migrated from ENSG00000006530 to ENSG00000006530 (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 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 STT3A Gene migrated from ENSG00000134910 to ENSG00000134910 (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 SF3B2 Gene migrated from ENSG00000087365 to ENSG00000087365 (gene set migration)
Fetal anomalies v2.0 SIX3 Gene migrated from ENSG00000138083 to ENSG00000138083 (gene set migration)
Fetal anomalies v2.0 TPO Gene migrated from ENSG00000115705 to ENSG00000115705 (gene set migration)
Fetal anomalies v2.0 HAND1 Gene migrated from ENSG00000113196 to ENSG00000113196 (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 SMARCA2 Gene migrated from ENSG00000080503 to ENSG00000080503 (gene set migration)
Fetal anomalies v2.0 NEB Gene migrated from ENSG00000183091 to ENSG00000183091 (gene set migration)
Fetal anomalies v2.0 CTNNB1 Gene migrated from ENSG00000168036 to ENSG00000168036 (gene set migration)
Fetal anomalies v2.0 GFM1 Gene migrated from ENSG00000168827 to ENSG00000168827 (gene set migration)
Fetal anomalies v2.0 WDHD1 Gene migrated from ENSG00000198554 to ENSG00000198554 (gene set migration)
Fetal anomalies v2.0 EIF3B Gene migrated from ENSG00000106263 to ENSG00000106263 (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 TG Gene migrated from ENSG00000042832 to ENSG00000042832 (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 DLX5 Gene migrated from ENSG00000105880 to ENSG00000105880 (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 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 CRYBA1 Gene migrated from ENSG00000108255 to ENSG00000108255 (gene set migration)
Fetal anomalies v2.0 EDNRA Gene migrated from ENSG00000151617 to ENSG00000151617 (gene set migration)
Fetal anomalies v2.0 PRUNE1 Gene migrated from ENSG00000143363 to ENSG00000143363 (gene set migration)
Fetal anomalies v2.0 POLE Gene migrated from ENSG00000177084 to ENSG00000177084 (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 EN1 Gene migrated from ENSG00000163064 to ENSG00000163064 (gene set migration)
Fetal anomalies v2.0 GDF6 Gene migrated from ENSG00000156466 to ENSG00000156466 (gene set migration)
Fetal anomalies v2.0 RPL15 Gene migrated from ENSG00000174748 to ENSG00000174748 (gene set migration)
Fetal anomalies v2.0 LAGE3 Gene migrated from ENSG00000196976 to ENSG00000196976 (gene set migration)
Fetal anomalies v2.0 STIM1 Gene migrated from ENSG00000167323 to ENSG00000167323 (gene set migration)
Fetal anomalies v2.0 ORAI1 Gene migrated from ENSG00000276045 to ENSG00000276045 (gene set migration)
Fetal anomalies v2.0 RNASEH2C Gene migrated from ENSG00000172922 to ENSG00000172922 (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 PPP1R12A Gene migrated from ENSG00000058272 to ENSG00000058272 (gene set migration)
Fetal anomalies v2.0 KDM2B Gene migrated from ENSG00000089094 to ENSG00000089094 (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 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 DIAPH1 Gene migrated from ENSG00000131504 to ENSG00000131504 (gene set migration)
Fetal anomalies v2.0 CDK5 Gene migrated from ENSG00000164885 to ENSG00000164885 (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 FAAP100 Gene migrated from ENSG00000185504 to ENSG00000185504 (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 MYRF Gene migrated from ENSG00000124920 to ENSG00000124920 (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 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 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 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 LNPK Gene migrated from ENSG00000144320 to ENSG00000144320 (gene set migration)
Fetal anomalies v2.0 PLCB4 Gene migrated from ENSG00000101333 to ENSG00000101333 (gene set migration)
Fetal anomalies v2.0 FUZ Gene migrated from ENSG00000010361 to ENSG00000010361 (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 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 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 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 CIROP Gene symbol changed from AL117258.1 to CIROP during gene set migration (ENSG00000283654 -> ENSG00000283654)
Fetal anomalies v2.0 KIF26A Gene migrated from ENSG00000066735 to ENSG00000066735 (gene set migration)
Fetal anomalies v2.0 RASA1 Gene migrated from ENSG00000145715 to ENSG00000145715 (gene set migration)
Fetal anomalies v2.0 ZRSR2 Gene migrated from ENSG00000169249 to ENSG00000169249 (gene set migration)
Fetal anomalies v2.0 NUDT2 Gene migrated from ENSG00000164978 to ENSG00000164978 (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 FRA10AC1 Gene migrated from ENSG00000148690 to ENSG00000148690 (gene set migration)
Fetal anomalies v2.0 RAP1B Gene migrated from ENSG00000127314 to ENSG00000127314 (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 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 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 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 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 GNAS Gene migrated from ENSG00000087460 to ENSG00000087460 (gene set migration)
Fetal anomalies v2.0 KIF22 Gene migrated from ENSG00000079616 to ENSG00000079616 (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 DEAF1 Gene migrated from ENSG00000177030 to ENSG00000177030 (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 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 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 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 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 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 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 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 PHF21A Gene migrated from ENSG00000135365 to ENSG00000135365 (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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 GLIS3 Gene migrated from ENSG00000107249 to ENSG00000107249 (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 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 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 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 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 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 EIF4A3 Gene migrated from ENSG00000141543 to ENSG00000141543 (gene set migration)
Fetal anomalies v2.0 OSTM1 Gene migrated from ENSG00000081087 to ENSG00000081087 (gene set migration)
Fetal anomalies v2.0 ADAMTS10 Gene migrated from ENSG00000142303 to ENSG00000142303 (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 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 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 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 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 FOXE1 Gene migrated from ENSG00000178919 to ENSG00000178919 (gene set migration)
Fetal anomalies v2.0 LAMA2 Gene migrated from ENSG00000196569 to ENSG00000196569 (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 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 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 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 KIF1A Gene migrated from ENSG00000130294 to ENSG00000130294 (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 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 GATA4 Gene migrated from ENSG00000136574 to ENSG00000136574 (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 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 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 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 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 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 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 PCDH12 Gene migrated from ENSG00000113555 to ENSG00000113555 (gene set migration)
Fetal anomalies v2.0 NKX2-5 Gene migrated from ENSG00000183072 to ENSG00000183072 (gene set migration)
Fetal anomalies v2.0 GPC3 Gene migrated from ENSG00000147257 to ENSG00000147257 (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 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 PEX13 Gene migrated from ENSG00000162928 to ENSG00000162928 (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 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 PGM1 Gene migrated from ENSG00000079739 to ENSG00000079739 (gene set migration)
Fetal anomalies v2.0 PIGA Gene migrated from ENSG00000165195 to ENSG00000165195 (gene set migration)
Fetal anomalies v2.0 PIK3R2 Gene migrated from ENSG00000105647 to ENSG00000105647 (gene set migration)
Fetal anomalies v2.0 POMT1 Gene migrated from ENSG00000130714 to ENSG00000130714 (gene set migration)
Fetal anomalies v2.0 POMT2 Gene migrated from ENSG00000009830 to ENSG00000009830 (gene set migration)
Fetal anomalies v2.0 PLEC Gene migrated from ENSG00000178209 to ENSG00000178209 (gene set migration)
Fetal anomalies v2.0 RHEB Gene migrated from ENSG00000106615 to ENSG00000106615 (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 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 POLR1D Gene migrated from ENSG00000186184 to ENSG00000186184 (gene set migration)
Fetal anomalies v2.0 DOK7 Gene migrated from ENSG00000175920 to ENSG00000175920 (gene set migration)
Fetal anomalies v2.0 RBM8A Gene migrated from ENSG00000265241 to ENSG00000265241 (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 DOCK6 Gene migrated from ENSG00000130158 to ENSG00000130158 (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 CDK8 Gene migrated from ENSG00000132964 to ENSG00000132964 (gene set migration)
Fetal anomalies v2.0 SIL1 Gene migrated from ENSG00000120725 to ENSG00000120725 (gene set migration)
Fetal anomalies v2.0 POLR1B Gene migrated from ENSG00000125630 to ENSG00000125630 (gene set migration)
Fetal anomalies v2.0 ERCC2 Gene migrated from ENSG00000104884 to ENSG00000104884 (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 KAT5 Gene migrated from ENSG00000172977 to ENSG00000172977 (gene set migration)
Fetal anomalies v2.0 CSMD1 Gene migrated from ENSG00000183117 to ENSG00000183117 (gene set migration)
Fetal anomalies v2.0 COL25A1 Gene migrated from ENSG00000188517 to ENSG00000188517 (gene set migration)
Fetal anomalies v2.0 GFAP Gene migrated from ENSG00000131095 to ENSG00000131095 (gene set migration)
Fetal anomalies v2.0 ELAC2 Gene migrated from ENSG00000006744 to ENSG00000006744 (gene set migration)
Fetal anomalies v2.0 HYAL2 Gene migrated from ENSG00000068001 to ENSG00000068001 (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 ACTG1 Gene migrated from ENSG00000184009 to ENSG00000184009 (gene set migration)
Fetal anomalies v2.0 HBA2 Gene migrated from ENSG00000188536 to ENSG00000188536 (gene set migration)
Fetal anomalies v2.0 NF1 Gene migrated from ENSG00000196712 to ENSG00000196712 (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 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 LMNB1 Gene migrated from ENSG00000113368 to ENSG00000113368 (gene set migration)
Fetal anomalies v2.0 EXTL3 Gene migrated from ENSG00000012232 to ENSG00000012232 (gene set migration)
Fetal anomalies v2.0 NEU1 Gene migrated from ENSG00000204386 to ENSG00000204386 (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 NDE1 Gene migrated from ENSG00000072864 to ENSG00000072864 (gene set migration)
Fetal anomalies v2.0 CTC1 Gene migrated from ENSG00000178971 to ENSG00000178971 (gene set migration)
Fetal anomalies v2.0 CSPP1 Gene migrated from ENSG00000104218 to ENSG00000104218 (gene set migration)
Fetal anomalies v2.0 CSNK2A1 Gene migrated from ENSG00000101266 to ENSG00000101266 (gene set migration)
Fetal anomalies v2.0 PKD1 Gene migrated from ENSG00000008710 to ENSG00000008710 (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 EIF3A Gene migrated from ENSG00000107581 to ENSG00000107581 (gene set migration)
Fetal anomalies v2.0 CRYGC Gene migrated from ENSG00000163254 to ENSG00000163254 (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 PACS2 Gene migrated from ENSG00000179364 to ENSG00000179364 (gene set migration)
Fetal anomalies v2.0 CRYBA4 Gene migrated from ENSG00000196431 to ENSG00000196431 (gene set migration)
Fetal anomalies v2.0 APC2 Gene migrated from ENSG00000115266 to ENSG00000115266 (gene set migration)
Fetal anomalies v2.0 GLIS2 Gene migrated from ENSG00000126603 to ENSG00000126603 (gene set migration)
Fetal anomalies v2.0 PPP2CA Gene migrated from ENSG00000113575 to ENSG00000113575 (gene set migration)
Fetal anomalies v2.0 CRYAA Gene migrated from ENSG00000160202 to ENSG00000160202 (gene set migration)
Fetal anomalies v2.0 CRTAP Gene migrated from ENSG00000170275 to ENSG00000170275 (gene set migration)
Fetal anomalies v2.0 ZMIZ1 Gene migrated from ENSG00000108175 to ENSG00000108175 (gene set migration)
Fetal anomalies v2.0 EIF2AK3 Gene migrated from ENSG00000172071 to ENSG00000172071 (gene set migration)
Fetal anomalies v2.0 PEX7 Gene migrated from ENSG00000112357 to ENSG00000112357 (gene set migration)
Fetal anomalies v2.0 MCIDAS Gene migrated from ENSG00000234602 to ENSG00000234602 (gene set migration)
Fetal anomalies v2.0 SCN5A Gene migrated from ENSG00000183873 to ENSG00000183873 (gene set migration)
Fetal anomalies v2.0 PRF1 Gene migrated from ENSG00000180644 to ENSG00000180644 (gene set migration)
Fetal anomalies v2.0 GATA1 Gene migrated from ENSG00000102145 to ENSG00000102145 (gene set migration)
Fetal anomalies v2.0 ALPK3 Gene migrated from ENSG00000136383 to ENSG00000136383 (gene set migration)
Fetal anomalies v2.0 TOR1AIP1 Gene migrated from ENSG00000143337 to ENSG00000143337 (gene set migration)
Fetal anomalies v2.0 GJC2 Gene migrated from ENSG00000198835 to ENSG00000198835 (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 PAM16 Gene migrated from ENSG00000217930 to ENSG00000217930 (gene set migration)
Fetal anomalies v2.0 EPHB4 Gene migrated from ENSG00000196411 to ENSG00000196411 (gene set migration)
Fetal anomalies v2.0 PUF60 Gene migrated from ENSG00000179950 to ENSG00000179950 (gene set migration)
Fetal anomalies v2.0 KIAA0825 Gene migrated from ENSG00000185261 to ENSG00000185261 (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 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 IFT27 Gene migrated from ENSG00000100360 to ENSG00000100360 (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 TRRAP Gene migrated from ENSG00000196367 to ENSG00000196367 (gene set migration)
Fetal anomalies v2.0 UBA2 Gene migrated from ENSG00000126261 to ENSG00000126261 (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 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 GINS3 Gene migrated from ENSG00000181938 to ENSG00000181938 (gene set migration)
Fetal anomalies v2.0 PTBP1 Gene migrated from ENSG00000011304 to ENSG00000011304 (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 GSPT2 Gene migrated from ENSG00000189369 to ENSG00000189369 (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 SLC39A8 Gene migrated from ENSG00000138821 to ENSG00000138821 (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 DMRT2 Gene migrated from ENSG00000173253 to ENSG00000173253 (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 SNAPIN Gene migrated from ENSG00000143553 to ENSG00000143553 (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 RREB1 Gene migrated from ENSG00000124782 to ENSG00000124782 (gene set migration)
Fetal anomalies v2.0 LEF1 Gene migrated from ENSG00000138795 to ENSG00000138795 (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 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 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 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 ADAMTS15 Gene migrated from ENSG00000166106 to ENSG00000166106 (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 CUL3 Gene migrated from ENSG00000036257 to ENSG00000036257 (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 PHF5A Gene migrated from ENSG00000100410 to ENSG00000100410 (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 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 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 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 DRG1 Gene migrated from ENSG00000185721 to ENSG00000185721 (gene set migration)
Fetal anomalies v2.0 WDR44 Gene migrated from ENSG00000131725 to ENSG00000131725 (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 MAP4K4 Gene migrated from ENSG00000071054 to ENSG00000071054 (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 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 CACHD1 Gene migrated from ENSG00000158966 to ENSG00000158966 (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 SHROOM4 Gene migrated from ENSG00000158352 to ENSG00000158352 (gene set migration)
Fetal anomalies v2.0 FOSL2 Gene migrated from ENSG00000075426 to ENSG00000075426 (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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 TMEM98 Gene migrated from ENSG00000006042 to ENSG00000006042 (gene set migration)
Fetal anomalies v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.588
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 v1.586 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 v1.584 MAB21L1 Zornitza Stark Publications for gene: MAB21L1 were set to 30487245
Fetal anomalies v1.579 TNXB Zornitza Stark Publications for gene: TNXB were set to 19921645; 28306229; 28306225; 23620400
Fetal anomalies v1.575 EMG1 Zornitza Stark Publications for gene: EMG1 were set to 19463982
Fetal anomalies v1.574 TOMM7 Zornitza Stark Publications for gene: TOMM7 were set to 36299998; 36282599
Fetal anomalies v1.572 HAND1 Zornitza Stark Publications for gene: HAND1 were set to 31286141; 29016838; 29317578; 29179274; 28112363; 27942761; 26581070
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 v1.564 FRMD4A Zornitza Stark Publications for gene: FRMD4A were set to 30266093; 25388005; 30214071
Fetal anomalies v1.562 FAM92A Zornitza Stark Publications for gene: FAM92A were set to 30395363
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 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 v1.557 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 v1.553 MYH6 Zornitza Stark Publications for gene: MYH6 were set to 20656787; 29969989; 15735645
Fetal anomalies v1.551 KIF22 Zornitza Stark Publications for gene: KIF22 were set to 25256152; 22152677; 22152678
Fetal anomalies v1.547 DLX5 Zornitza Stark Publications for gene: DLX5 were set to 22121204; 24496061; 25196357; 20534536; 12112878
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 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 v1.540 GRK2 Zornitza Stark Publications for gene: GRK2 were set to 33200460
Fetal anomalies v1.536 LRRC32 Zornitza Stark Publications for gene: LRRC32 were set to 30976112
Fetal anomalies v1.532 FGD5 Krithika Murali Publications for gene: FGD5 were set to 32037394; 30232381
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 v1.524 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 v1.522 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 VPS51 Zornitza Stark Publications for gene: VPS51 were set to PMID: 30624672; 31207318
Fetal anomalies v1.518 MYL1 Zornitza Stark Publications for gene: MYL1 were set to 30215711
Fetal anomalies v1.514 GSPT2 Zornitza Stark Publications for gene: GSPT2 were set to 28414775
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 v1.508 ESRP2 Zornitza Stark Publications for gene: ESRP2 were set to 29805042
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 v1.503 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 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 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 v1.498 RSPRY1 Zornitza Stark Publications for gene: RSPRY1 were set to 26365341
Fetal anomalies v1.495 ABL1 Zornitza Stark Publications for gene: ABL1 were set to 33461977; 28288113
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 v1.491 RPS28 Zornitza Stark Publications for gene: RPS28 were set to 24942156
Fetal anomalies v1.487 KIF21A Rylee Peters Publications for gene: KIF21A were set to PMID: 34740919
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 v1.479 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 v1.477 COL10A1 Zornitza Stark Publications for gene: COL10A1 were set to 15880705; 31633898
Fetal anomalies v1.472 GPKOW Zornitza Stark Publications for gene: GPKOW were set to 28612833; 40221893
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 v1.467 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 v1.460 LOXL3 Zornitza Stark Publications for gene: LOXL3 were set to 25663169; 26307084; 26957899; 29802726; 30362103; 34787502
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 v1.453 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 v1.448 MIA3 Zornitza Stark Publications for gene: MIA3 were set to PMID: 32101163; 33778321
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 v1.443 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 v1.438 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 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 v1.433 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 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 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 v1.427 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 v1.420 CDK5 Zornitza Stark Publications for gene: CDK5 were set to 25560765; 32273484; 32097629; 28854363; 7490100
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 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 v1.412 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 v1.408 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 v1.406 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 v1.403 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 v1.399 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 v1.397 TAF13 Zornitza Stark Publications for gene: TAF13 were set to 28257693
Fetal anomalies v1.391 TBC1D32 Zornitza Stark Publications for gene: TBC1D32 were set to 24285566; 32573025; 32060556; 31130284; 36826837; 40319332
Fetal anomalies v1.389 TBC1D32 Zornitza Stark Publications for gene: TBC1D32 were set to 32573025; 32060556; 31130284
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 v1.381 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 v1.379 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 v1.376 WDR91 Bryony Thompson Publications for gene: WDR91 were set to 32732226; 34028500; 28860274
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 v1.369 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 v1.366 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 v1.361 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 v1.357 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 v1.354 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 v1.350 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 v1.348 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 v1.346 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 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 v1.343 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 v1.341 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 v1.339 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 v1.337 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 v1.335 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 v1.331 GPKOW Zornitza Stark Publications for gene: GPKOW were set to 28612833
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 v1.327 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 v1.325 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 v1.323 MYRF Zornitza Stark Publications for gene: MYRF were set to 30985895; 30070761; 31069960; 29446546; 30532227
Fetal anomalies v1.321 EFNA4 Bryony Thompson Publications for gene: EFNA4 were set to 29215649; 29168297; 16540516
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 v1.311 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 v1.309 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 v1.307 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 v1.304 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 v1.302 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 v1.300 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 v1.292 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 v1.288 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 v1.285 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 v1.283 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 v1.281 FLVCR1 Zornitza Stark Publications for gene: FLVCR1 were set to
Fetal anomalies v1.278 KLF1 Zornitza Stark Publications for gene: KLF1 were set to 28361594; 25724378
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 v1.269 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 v1.266 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 v1.264 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 v1.262 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 v1.260 TBC1D7 Zornitza Stark Publications for gene: TBC1D7 were set to 23687350; 24515783
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 v1.254 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 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 v1.248 FUZ Zornitza Stark Publications for gene: FUZ were set to 21840926
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 v1.242 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 v1.240 PIP5K1C Zornitza Stark Publications for gene: PIP5K1C were set to 17701898
Fetal anomalies v1.228 DISP1 Zornitza Stark Publications for gene: DISP1 were set to 27363716; 19184110; 26748417; 23542665
Fetal anomalies v1.224 FRYL Ain Roesley gene: FRYL was added
gene: FRYL was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FRYL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FRYL were set to 38479391
Phenotypes for gene: FRYL were set to neurodevelopmental disorder MONDO:0700092, FRYL-related
Review for gene: FRYL was set to AMBER
gene: FRYL was marked as current diagnostic
Added comment: 14 individuals, all de novo except 1x duo testing (not present in tested father)
5x missense + 8x fs/stopgain + 1x canonical splice

7/14 with cardiac anomalies

Of interest to this panel: 1x tetralogy of fallot (TOF) with pulmonary atresia (PA), 2x dextrocardia, 1x hypoplastic left heart syndrome

Other reported features AVSD, VSD, PDA
Sources: Literature
Fetal anomalies v1.223 SASS6 Ain Roesley Publications for gene: SASS6 were set to 24951542; 30639237
Fetal anomalies v1.222 USP14 Zornitza Stark Publications for gene: USP14 were set to PMID: 35066879
Fetal anomalies v1.216 RBFOX2 Ain Roesley gene: RBFOX2 was added
gene: RBFOX2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RBFOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBFOX2 were set to 26785492; 27670201; 27485310; 25205790; 35137168; 26785492; 37165897
Review for gene: RBFOX2 was set to AMBER
gene: RBFOX2 was marked as current diagnostic
Added comment: PMID: 37165897
1x 'splice altering' de novo in in an individual with HLSH + AVSD

- PMID: 26785492: Analysed CHD (1213 congenital heart disease trios) and control (autism spectrum disorder) trios for de novo mutations. Found RBFOX2 gene had significantly more damaging de novo variants than expected: 3 de novo LoF variants (eg. nonsense, frameshift, or canonical splice disruptions). All 3 probands have hypoplastic left heart syndrome (HLHS). No further patient-specific clinical or variant info were available. Same cohort later included in PMID: 32368696, listed 4 de novo variants in this gene, in patients with left ventricular outflow tract obstruction (LVOTO) or conotruncal defects (CTDs).

- PMID: 27670201: RNA expression study showed the silenced allele harbours a nonsense RBFOX2 variant (Arg287*), CHD patient heart tissue sample, same patient published in PMID: 26785492.
- PMID: 27485310: Functional studies using heart tissue sample from HLHS patient with NM_001031695.2:c.859C>T p.(Arg287*) showed subcellular mislocalisation, impacting its nuclear function in RNA splicing.

- PMID: 25205790: De novo 111.3kb del chr22:36038076-36149338 (hg19) which includes APOL5,APOL6,RBFOX2, in a patient with HLHS.

- PMID: 35137168: Rbfox2 conditional knockout mouse model recapitulated several molecular and phenotypic features of HLHS.
Sources: Literature
Fetal anomalies v1.214 KDR Ain Roesley Publications for gene: KDR were set to 34113005; 30232381
Fetal anomalies v1.212 KDR Ain Roesley edited their review of gene: KDR: Changed rating: GREEN; Changed publications: 34113005, 30232381, 28991257, 30232381; Set current diagnostic: yes
Fetal anomalies v1.212 KDR Ain Roesley gene: KDR was added
gene: KDR was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KDR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KDR were set to 34113005; 30232381
Phenotypes for gene: KDR were set to Tetralogy of Fallot
Added comment: PMID:30232381
5x families (6 affecteds) with ToF: 2x PTCs + 2x missense + 1x inframe del
noted that all individuals were adults at time of assessment but known to have ToF and/or other CHD

PMID:34113005;
1x family with 2 affecteds, Chet for 2x missense
Sources: Literature
Fetal anomalies v1.211 IRX4 Ain Roesley gene: IRX4 was added
gene: IRX4 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: IRX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRX4 were set to 21544582
Phenotypes for gene: IRX4 were set to Ventricular septal defect
Review for gene: IRX4 was set to RED
gene: IRX4 was marked as current diagnostic
Added comment: Two individuals with novel missense variants identified in a large cohort in 2011.

nothing new in punned
Sources: Literature
Fetal anomalies v1.210 HEY2 Ain Roesley gene: HEY2 was added
gene: HEY2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: HEY2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: HEY2 were set to 32820247
Phenotypes for gene: HEY2 were set to congenital heart defects and thoracic aortic aneurysms
Review for gene: HEY2 was set to RED
gene: HEY2 was marked as current diagnostic
Added comment: A very large family affected by CHD and familial thoracic aortic aneurysms. Trio genome sequencing was carried out in an index patient with critical CHD, and family members had either exome or Sanger sequencing. Identified homozygous loss-of-function variant (c.318_319delAG, p.G108*) in HEY2 in 3 individuals in family with critical CHD, whereas the 20 heterozygous carriers show a spectrum of CVDs (CHD and FTAA, but varying expressivity and incomplete penetrance).

Other studies show that knockout of HEY2 in mice results in cardiovascular defects (CVDs), including septal defects, cardiomyopathy, a thin-walled aorta, and valve anomalies.
Sources: Literature
Fetal anomalies v1.208 DOHH Ain Roesley gene: DOHH was added
gene: DOHH was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOHH were set to 35858628
Phenotypes for gene: DOHH were set to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066
Review for gene: DOHH was set to GREEN
gene: DOHH was marked as current diagnostic
Added comment: 4 families - 5 affecteds

1x cardiomyopathy at prenatal examination
4/5 presented with CHD post-natally - VSD, ASD, severe cardiomegaly, Shone syndrome with aortic coarctation; bicuspid aortic valve; tricuspid-valve insufficiency etc

microcephaly was post-natal
Sources: Literature
Fetal anomalies v1.206 AMOTL1 Ain Roesley gene: AMOTL1 was added
gene: AMOTL1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AMOTL1 were set to 36751037
Phenotypes for gene: AMOTL1 were set to Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related
Review for gene: AMOTL1 was set to GREEN
gene: AMOTL1 was marked as current diagnostic
Added comment: PMID: 36751037- 16 individuals from 12 families with orofacial clefting syndrome and het variants in AMOTL1. Many in 1 hotspot: 5 individuals from 3 families have R157C, 6 individuals from another 4 families have R157H, 1 has P160L, and another has Q161R. Out of this hostpaot- 1 with P368A, 1 with E507K, 1 with E579K. 7 are de novo. All but 2 have clefting, 7 are dysmorphic, 5 have hearing loss, 9 have CHD, 7 have tall stature, 6 have dev delay. Other features include liver disease, myopia, scoliosis and immune involvement.

Another 2 families have been previously reported (described in the panelapp review below) with variants in this hotspot 1 has 2 individuals with R157C, the other has 1 individual with P160L. All hotspot are absent from gnomad v2.
Sources: Literature
Fetal anomalies v1.204 AL117258.1 Ain Roesley gene: AL117258.1 was added
gene: AL117258.1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: AL117258.1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AL117258.1 were set to 34903892
Phenotypes for gene: AL117258.1 were set to Heterotaxy; congenital heart defects
Review for gene: AL117258.1 was set to GREEN
gene: AL117258.1 was marked as current diagnostic
Added comment: Gene also known as CIROP and LMLN2

Homozygous or compound heterozygous CIROP variants identified in 12 families with congenital heart defects associated with heterotaxy.

Functional tests performed on Xenopus and zebrafish embryos showed that CIROP was essential for left side symmetry and is expressed in ciliated left–right organisers.
Sources: Literature
Sources: Literature
Fetal anomalies v1.201 CELSR3 Zornitza Stark gene: CELSR3 was added
gene: CELSR3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CELSR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CELSR3 were set to 38429302
Phenotypes for gene: CELSR3 were set to Neurodevelopmental disorder (MONDO#0700092), CELSR3-related
Added comment: PMID: 38429302:12 affected individuals from 11 families reported with bi-allelic variants. Phenotype ranged from CNS anomalies (7/12), CNS and CAKUT (3/12) and CAKUT only (2/12). 8/12 has ID/DD. Only missense variants reported and 1 inframe variant. Functional studies done in zebrafish demonstrate similar structural anomalies of the developing pronephros and neuronal abnormalities to affected individuals
Sources: Literature
Fetal anomalies v1.199 HSPG2 Ain Roesley Publications for gene: HSPG2 were set to
Fetal anomalies v1.197 THSD1 Zornitza Stark gene: THSD1 was added
gene: THSD1 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: THSD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: THSD1 were set to 33569873; 27895300
Phenotypes for gene: THSD1 were set to Lymphatic malformation 13, MIM# 620244
Review for gene: THSD1 was set to GREEN
Added comment: PMID: 33569873 - 1 fetus with a homozygous PTC and nonimmune hydrops fetalis (NIHF), congenital heart disease and hemangiomas. FHx of 1/3 triplets with severe hydrops fetalis, not sequenced.
- Paper reviews previous NIHF cases and reports another homozygous PTC in two families ( and a recurring homozygous missense (p.Cys206Tyr) in three families.


PMID: 27895300- Mouse model has hydrocephaly with poor perfusion.
Sources: Expert Review
Fetal anomalies v1.193 NEK1 Zornitza Stark Publications for gene: NEK1 were set to 21211617; 22499340; 25492405; 28123176
Fetal anomalies v1.190 THOC2 Zornitza Stark Publications for gene: THOC2 were set to 26166480; 32116545; 29851191; 32960281
Fetal anomalies v1.186 DLG5 Zornitza Stark gene: DLG5 was added
gene: DLG5 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLG5 were set to 32631816
Phenotypes for gene: DLG5 were set to Yuksel-Vogel-Bauer syndrome, MIM#620703
Review for gene: DLG5 was set to GREEN
Added comment: Four unrelated families reported, supportive Xenopus animal model data. Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations.
Sources: Expert Review
Fetal anomalies v1.184 CELSR1 Ain Roesley Publications for gene: CELSR1 were set to 31215153; 31403174; 26855770
Fetal anomalies v1.182 WDR44 Andrew Fennell gene: WDR44 was added
gene: WDR44 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WDR44 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: WDR44 were set to PMID: 38191484
Phenotypes for gene: WDR44 were set to Ciliopathy, MONDO:0005308, WDR44-related
Review for gene: WDR44 was set to GREEN
Added comment: 11 male patients with 6 missense and 1 nonsense variant in WDR44 displaying a wide range of cognitive impairment and variable congenital anomalies associated with primary cilium dysfunction. All patients had learning difficulties with 8 labelled as intellectually disabled (mild-moderate). Other clinical features included anomalies of craniofacial, musculoskeletal, brain, renal and cardiac development.
WDR44 is a negative regulator of ciliogenesis. Increased binding is hypothesised to underlie the pathogenicity of WDR44 variants identified in this cohort. Functional data supported impaired ciliogenesis initiation in patient fibroblasts and a zebrafish model. A zebrafish model recapitulated the human phenotype when morphants expressed WDR44 L668S, D669N, S764F, G782C, H839R, and R733* variants. Of note, D648G or N840S did not recapitulate the phenotype in the zebrafish model.
The studies supported a GoF mechanism, but the authors could not rule out that LoF of WDR44 contributes to the ciliopathy-like phenotype observed, because protein expression data was only available for a limited number of patients.
Sources: Literature
Fetal anomalies v1.179 MAX Rylee Peters gene: MAX was added
gene: MAX was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAX were set to 38141607
Phenotypes for gene: MAX were set to Syndromic disease (MONDO:0002254), MAX-related
Review for gene: MAX was set to GREEN
Added comment: Three individuals who each share a recurrent de novo germline variant in the MAX gene, resulting in a p.Arg60Gln substitution in the loop of the b-HLH-LZ domain.

Affected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae.

Functional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc.
Sources: Literature
Fetal anomalies v1.179 ZRSR2 Chris Ciotta gene: ZRSR2 was added
gene: ZRSR2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZRSR2 were set to PMID: 38158857
Phenotypes for gene: ZRSR2 were set to Orofacialdigital syndrome MONDO:0015375, ZRSR2-related
Review for gene: ZRSR2 was set to GREEN
Added comment: Oral-facial-digital (OFD) syndrome with brain anomalies ranging from alobar holoprosencephaly to pituitary anomalies.
Six unrelated families with two truncating variants and functional studies:
- p.(Gly404GlufsTer23): detected in one family with 2x affected males
- p.(Arg403GlyfsTer24): 5 unrelated families, both de novo and inherited
Sources: Literature
Fetal anomalies v1.179 CACHD1 Suliman Khan gene: CACHD1 was added
gene: CACHD1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CACHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACHD1 were set to PMID: 38158856
Phenotypes for gene: CACHD1 were set to syndromic complex neurodevelopmental disorder MONDO:0800439
Penetrance for gene: CACHD1 were set to unknown
Review for gene: CACHD1 was set to GREEN
Added comment: PMID: 38158856 - Six affected individuals from four unrelated families with homozygous CACHD1 variants (3 splice, 2 frameshift and 1 nonsense variant). Excluding the two fatal cases, all other were affected by syndromic neurodevelopmental abnormalities, multiple organ systems featuring global impairment of psychomotor development, dysmorphic facial features, genitourinary abnormalities, oculo-auricular and congenital malformation. Seizure was reported in one case. Whole exome sequencing identified bi-allelic loss of function variants in the CACHD1 gene. In vitro human neural models of CACHD1 depletion displayed dysregulated of Wnt signaling in the developing brain.
Sources: Literature
Fetal anomalies v1.178 NUDT2 Lilian Downie gene: NUDT2 was added
gene: NUDT2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDT2 were set to PMID: 38141063
Phenotypes for gene: NUDT2 were set to Intellectual developmental disorder with or without peripheral neuropathy MIM#619844
Review for gene: NUDT2 was set to GREEN
Added comment: 9 individuals with partial agenesis or hypoplasia of the corpus callosum
Sources: Literature
Fetal anomalies v1.177 CNOT2 Zornitza Stark gene: CNOT2 was added
gene: CNOT2 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNOT2 were set to 31512373; 31145527; 28135719
Phenotypes for gene: CNOT2 were set to Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 618608
Review for gene: CNOT2 was set to GREEN
Added comment: Congenital heart disease and poor growth may be detectable prenatally.
Sources: Expert Review
Fetal anomalies v1.167 PKP2 Suliman Khan changed review comment from: PMID: 30562116: PMID: 30562116 reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed.
PMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD).
PMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consistent to Wolff Parkinson-White syndrome.
Sources: Literature; to: PMID: 30562116: reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed.
PMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD).
PMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consistent to Wolff Parkinson-White syndrome.
Sources: Literature
Fetal anomalies v1.167 PKP2 Suliman Khan changed review comment from: PMID: 30562116: PMID: 30562116 reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed.
PMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD).
PMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consist to Wolff Parkinson-White syndrome.
Sources: Literature; to: PMID: 30562116: PMID: 30562116 reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed.
PMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD).
PMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consistent to Wolff Parkinson-White syndrome.
Sources: Literature
Fetal anomalies v1.167 PKP2 Suliman Khan changed review comment from: PMID: 30562116: PMID: 30562116 reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed.
PMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD).
PMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In cases, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consist to Wolff Parkinson-White syndrome.
Sources: Literature; to: PMID: 30562116: PMID: 30562116 reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed.
PMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD).
PMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consist to Wolff Parkinson-White syndrome.
Sources: Literature
Fetal anomalies v1.167 PKP2 Suliman Khan gene: PKP2 was added
gene: PKP2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PKP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKP2 were set to PMID: 30562116; PMID: 35059364; PMID: 38050058
Phenotypes for gene: PKP2 were set to dilated cardiomyopathy; hypoplastic left heart syndrome; hydrops fetalis; ventricular septal defect; left ventricular non-compaction
Penetrance for gene: PKP2 were set to unknown
Review for gene: PKP2 was set to GREEN
Added comment: PMID: 30562116: PMID: 30562116 reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed.
PMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD).
PMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In cases, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consist to Wolff Parkinson-White syndrome.
Sources: Literature
Fetal anomalies v1.167 WBP4 Lilian Downie gene: WBP4 was added
gene: WBP4 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WBP4 were set to PMID: 37425688
Phenotypes for gene: WBP4 were set to Neurodevelopmental disorder, MONDO:0700092, WBP4-related
Review for gene: WBP4 was set to GREEN
Added comment: 11 individuals, with dysmorphic ID
3 presented in utero 2x IUGR, 1x ventriculomegaly and polyhydramnios
5 with brain anomalies (corpus callosum and cortical)
Sources: Literature
Fetal anomalies v1.164 TRIT1 Zornitza Stark gene: TRIT1 was added
gene: TRIT1 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIT1 were set to 36049610; 32088416
Phenotypes for gene: TRIT1 were set to Combined oxidative phosphorylation deficiency 35, MIM#617873
Review for gene: TRIT1 was set to GREEN
Added comment: Presentations with IUGR reported.
Sources: Expert Review
Fetal anomalies v1.162 CASP2 Zornitza Stark gene: CASP2 was added
gene: CASP2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASP2 were set to 37880421
Phenotypes for gene: CASP2 were set to neurodevelopmental disorder MONDO:0700092, CASP2-related
Review for gene: CASP2 was set to GREEN
Added comment: 7 individuals from 5 families:
- 4 families homozygous for PTC.
- 1 family compound heterozygote for splice site + PTC. RNA studies indicate usage of 2 cryptic splice donor sites.

5/5 have ID/dev delay
1/5 seizures
2/5 hypotonia
3/5 Lissencephaly (pachygyria + cortical thickening)
Sources: Literature
Fetal anomalies v1.160 MFN2 Andrew Fennell gene: MFN2 was added
gene: MFN2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFN2 were set to PMID: 37804319
Phenotypes for gene: MFN2 were set to Mitochondrial disease, MONDO:0044970, MFN2-related
Review for gene: MFN2 was set to AMBER
Added comment: A single report of fetus with severe antenatal encephalopathy with lissencephaly, polymicrogyria, and cerebellar atrophy. The authors identified a homozygous in-frame deletion leading to exon 16 skipping and in-frame loss of 50 amino acids 13 (p.Gln574_Val624del). Functional evidence of mitochondrial dysfunction (clumping) and respiratory chain complex deficiencies.
Sources: Literature
Fetal anomalies v1.154 PLS3 Ain Roesley Publications for gene: PLS3 were set to 32655496; 25209159; 29736964; 29884797; 28777485; 24088043
Fetal anomalies v1.150 MYCN Elena Savva Publications for gene: MYCN were set to 18470948
Fetal anomalies v1.148 PPP1R13L Zornitza Stark Phenotypes for gene: PPP1R13L were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related; Dilated cardiomyopathy, onset in infancy; Cleft lip and palate to Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519
Fetal anomalies v1.146 GNPNAT1 Zornitza Stark gene: GNPNAT1 was added
gene: GNPNAT1 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPNAT1 were set to 36097642; 35427807; 32591345
Phenotypes for gene: GNPNAT1 were set to Rhizomelic dysplasia, Ain-Naz type, MIM#619598
Review for gene: GNPNAT1 was set to AMBER
Added comment: 3 unrelated families reported with a skeletal dysplasia characterised by severe short stature and rhizomelic shortening. No antenatal features reported. The parents in PMID 36097642 had a medical termination of pregnancy at 4 months gestation for a fetus with skeletal anomalies - not genotyped.
Sources: Expert Review
Fetal anomalies v1.140 LNPK Lilian Downie gene: LNPK was added
gene: LNPK was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LNPK were set to PMID: 30032983, PMID:35599435, https://academic.oup.com/braincomms/advance-article/doi/10.1093/braincomms/fcad222/7243438?login=true
Phenotypes for gene: LNPK were set to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum MIM#618090
Review for gene: LNPK was set to GREEN
Added comment: Moderate to severe ID, majority of patients 10/15 have period of regression
Epilepsy (myoclonic frequently)
Structural brain anomalies 'ear of the lynx sign', callosal hypoplasia, mild brain including cerebellar atrophy.
Microcephaly, macrocephaly and normal head circumference described.
Sources: Literature
Fetal anomalies v1.140 DBR1 Chern Lim gene: DBR1 was added
gene: DBR1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBR1 were set to 37656279
Phenotypes for gene: DBR1 were set to Prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation, and death before the first year of life
Review for gene: DBR1 was set to AMBER
gene: DBR1 was marked as current diagnostic
Added comment: PMID: 37656279:
- A homozygous missense as a founder recessive DBR1 variant in four consanguineous families.
- Consistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life.
- RNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample.
- Haplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant.
- Authors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency.
Sources: Literature
Fetal anomalies v1.139 CUL3 Lucy Spencer gene: CUL3 was added
gene: CUL3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUL3 were set to 37665043
Phenotypes for gene: CUL3 were set to Neurodevelopmental disorder with or without autism or seizures (MIM#619239); Pseudohypoaldosteronism, type IIE (MIM#614496)
Review for gene: CUL3 was set to GREEN
Added comment: PMID: 37665043
1 case study and a review of the literature. 5 patients with de novo variants (PTCs and missense) in CUL3 who have various cardiac phenotypes: atrial septal defects, left ventricular outflow tract obstruction. Hypertrophic right ventricle pulmonary atresia, and other congenital heart defects. 2 of these patients have a neurological phenotype as well, while the other three are not reported to have one (but at least one was a terminated pregnancy).
Sources: Literature
Fetal anomalies v1.138 ATP5O Zornitza Stark gene: ATP5O was added
gene: ATP5O was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5O were set to 35621276; 34954817
Phenotypes for gene: ATP5O were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359
Review for gene: ATP5O was set to GREEN
Added comment: Prenatal phenotypes reported (IUGR, CHD, oligohydramnios)
Sources: Expert list
Fetal anomalies v1.134 PHF5A Zornitza Stark Publications for gene: PHF5A were set to
Fetal anomalies v1.132 PHF5A Daniel Flanagan gene: PHF5A was added
gene: PHF5A was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PHF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PHF5A were set to PMID: 37422718
Review for gene: PHF5A was set to GREEN
Added comment: Nine subjects with congenital malformations, including hypospadias, growth abnormalities, and developmental delay who had de novo PHF5A variants. Prenatally, six subjects had intrauterine growth retardation. All subjects had motor and speech delay and developmental delay. Congenital abnormalities comprised hypospadias in three of four male subjects and heart defects, inguinal hernia, and sacral dimple in three subjects. Six of the nine subjects had short stature. Craniofacial dysmorphism is variable in the nine subjects, high forehead and preauricular skin tag(s) in five subjects.
Sources: Expert list
Fetal anomalies v1.131 SENP7 Elena Savva gene: SENP7 was added
gene: SENP7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SENP7 were set to PMID: 37460201
Phenotypes for gene: SENP7 were set to Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related
Review for gene: SENP7 was set to AMBER
Added comment: PMID: 37460201
- 1 family (4 affecteds, sibling pair and 1st cousin) with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia. Fetus could not be tested, so 3 confirmed genetically.
- Homozygous for a PTC, decreased mRNA from one sample supports an NMD outcome.
- Additional studies performed supporting downstream proteins expression being affected
- Neutropenia observed in 2/3 patients
Sources: Literature
Fetal anomalies v1.129 STX5 Ain Roesley gene: STX5 was added
gene: STX5 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: STX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STX5 were set to 34711829
Phenotypes for gene: STX5 were set to congenital disorder of glycosylation MONDO#0015286, STX5-related
Review for gene: STX5 was set to AMBER
gene: STX5 was marked as current diagnostic
Added comment: 1x family with 3x deceased shortly after death + 3x spontaneous abortions + 2x abortions due to abnormal fatal ultrasound (US).
Hom for NM_003164.4:c.163 A > G p.(Met55Val), which results in complete loss of short isoform (which uses Met55 as the start)

phenotype: short long bones on US, dysmorphism, skeletal dysplasia, profound hypotonia, hepatomegaly elevated cholesterol.
Post-natally they died of progressive liver failure with cholestasis and hyperinsulinemic hypoglycemias

Primary human dermal fibroblasts isolated from these patients show defective glycosylation, altered Golgi morphology as measured by electron microscopy, mislocalization of glycosyltransferases, and compromised ER-Golgi trafficking
Sources: Literature
Fetal anomalies v1.124 INTS13 Chirag Patel gene: INTS13 was added
gene: INTS13 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS13 were set to PMID: 36229431
Phenotypes for gene: INTS13 were set to Oral-facial-digital syndrome
Review for gene: INTS13 was set to GREEN
gene: INTS13 was marked as current diagnostic
Added comment: 2 families with 4 affected individuals with Oral-facial-digital (OFD) phenotype. Homozygosity mapping and WES found 2 homozygous variants in INTS13 gene. This is a subunit of the Integrator complex, which associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. Variants segregated with disease. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Knockdown in Xenopus embryos leads to motile cilia anomalies.
Sources: Literature
Fetal anomalies v1.122 DCAF15 Chirag Patel gene: DCAF15 was added
gene: DCAF15 was added to Fetal anomalies. Sources: Other
Mode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome
Review for gene: DCAF15 was set to AMBER
Added comment: ESHG 2023:
3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child)
Features suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment.

WES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3).

Protein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli.
Sources: Other
Fetal anomalies v1.120 ERI1 Zornitza Stark gene: ERI1 was added
gene: ERI1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ERI1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ERI1 were set to 37352860
Phenotypes for gene: ERI1 were set to Spondyloepimetaphyseal dysplasia (MONDO#0100510)
Review for gene: ERI1 was set to GREEN
Added comment: PMID: 37352860 - 8 individuals from 7 unrelated families
- Patients with biallelic missense show a MORE severe spondyloepimetaphyseal dysplasia, syndactyly, brachydactyly/clinodactyly/camptodactyly
- Patients with biallelic null/whole gene deletion had mild ID and digit anomalies including brachydactyly/clinodactyly/camptodactyly
- Patient chet for a missense and PTC variant has a blended phenotype with short stature, syndactyly, brachydactyly/clinodactyly/camptodactyly, mild ID and failure to thrive

- Missense variants were functionally shown to not be able to rescue 5.8S rRNA processing in KO HeLa cells
- K/O mice had neonatal lethality with growth defects, brachydactyly. Skeletal-specific K/O had mild platyspondyly, had more in keeping with patients with null variants than missense

More severe phenotype hypothesised due to "exonuclease-dead proteins may compete for the target RNA molecules with other exonucleases that have functional redundancy
with ERI1, staying bound to those RNA molecules"
Sources: Literature
Fetal anomalies v1.118 NUDCD2 Ee Ming Wong gene: NUDCD2 was added
gene: NUDCD2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NUDCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDCD2 were set to 37272762
Phenotypes for gene: NUDCD2 were set to Multiple congenital anomalies (MONDO:0019042), NUDCD2-related
Penetrance for gene: NUDCD2 were set to unknown
Review for gene: NUDCD2 was set to AMBER
gene: NUDCD2 was marked as current diagnostic
Added comment: - Two unrelated probands, each biallelic for two variants in NUDCD2 (total 3x LoF variants, 1x missense variant)
- Immunoblotting of proteins extracted from the primary fibroblasts of one proband with 2x LoF variants demonstrated markedly reduced NUDCD2 levels compared to healthy individuals
Sources: Literature
Fetal anomalies v1.116 DRG1 Krithika Murali Publications for gene: DRG1 were set to PMID: 37179472
Fetal anomalies v1.114 DRG1 Dean Phelan gene: DRG1 was added
gene: DRG1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DRG1 were set to PMID: 37179472
Phenotypes for gene: DRG1 were set to Neurodevelopmental disorder (MONDO:0700092), DRG1-related
Review for gene: DRG1 was set to GREEN
Added comment: PMID: 37179472
- Biallelic variants were identified in four affected individuals from three distinct families with neurodevelopmental disorder with global developmental delay, primary microcephaly, short stature and craniofacial anomalies. Functional studies show the variants result in a loss of function.
Sources: Literature
Fetal anomalies v1.114 RAB34 Sarah Pantaleo gene: RAB34 was added
gene: RAB34 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB34 were set to PMID: 37384395
Phenotypes for gene: RAB34 were set to Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies
Penetrance for gene: RAB34 were set to Complete
Review for gene: RAB34 was set to GREEN
Added comment: Oral-facial-digital syndromes (OFDS) are a group of clinically and genetically heterogenous disorders characterised by defects in the development of the face and oral cavity along with digit anomalies. Pathogenic variants in >20 genes encoding ciliary proteins have been found to cause OFDS.

Identified by WES biallelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families (aided by GeneMatcher).

Affected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects.

RAB34 encodes a member of the Lab GTPase superfamily and was recently identified as a key mediator of ciliary membrane formation. Protein products of pathogenic variants clustered near the RAB34 C-terminus exhibit a strong loss of function.

Onset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, brain malformations), resulting in medical termination for three probands.

In the fourth, the only one alive at birth, proband born at 39+5 weeks, normal growth parameters after pregnancy with polyhydramnios, corpus callosum agenesis and polydactyly. Respiratory distress at birth.

All four probands presented typical features of ciliopathy disorders, overlapping with oral, facial and digital abnormalities.

All with homozygous missense variants. All absent in gnomAD (in homozygous state). Sanger sequencing confirmed mode of inheritance.
Sources: Literature
Fetal anomalies v1.112 KIF26A Zornitza Stark gene: KIF26A was added
gene: KIF26A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF26A were set to 36564622
Phenotypes for gene: KIF26A were set to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156
Review for gene: KIF26A was set to GREEN
Added comment: Five individuals from two families each with a different homozygous truncating variant in KIF26A segregating with profound ENS dysfunction that manifested clinically like Hirschsprung’s disease despite normal ganglionosis. Moreover, they all have neurological involvement with brain malformations ranging from ventriculomegaly to severe congenital hydrocephalus in two siblings who died early in life. Clinically, they displayed developmental delay and, in the longest surviving individual, spastic paraplegia.

Brain abnormalities may be detectable antenatally.
Sources: Literature
Fetal anomalies v1.110 MAP4K4 Zornitza Stark gene: MAP4K4 was added
gene: MAP4K4 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MAP4K4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP4K4 were set to 37126546
Phenotypes for gene: MAP4K4 were set to RASopathy, MONDO:0021060, MAP4K4-related
Review for gene: MAP4K4 was set to GREEN
Added comment: 26 individuals from 21 families reported with Rasopathy-like phenotype, comprising ID/DD, dysmorphic features and congenital anomalies.
Sources: Literature
Fetal anomalies v1.109 RASA1 Zornitza Stark Publications for gene: RASA1 were set to 33461977
Fetal anomalies v1.105 GATAD2A Zornitza Stark gene: GATAD2A was added
gene: GATAD2A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GATAD2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATAD2A were set to https://doi.org/10.1016/j.xhgg.2023.100198; 17565372
Phenotypes for gene: GATAD2A were set to Neurodevelopmental disorder, MONDO:0700092, GATAD2A-related
Review for gene: GATAD2A was set to AMBER
Added comment: Inconsistent pattern of congenital abnormalities.

https://doi.org/10.1016/j.xhgg.2023.100198 - Five unrelated individuals with a neurodevelopmental disorder identified with 3 missense & 2 LoF (4 de novo & 1 unknown inheritance). The shared clinical features with variable expressivity include global developmental delay (4/4), craniofacial dysmorphism (3/5), structural brain defects (2/3), musculoskeletal anomalies (3/5), vision/hearing defects (2/3), gastrointestinal/renal defects (2/3). Loss of function is the expected mechanism of disease. In vitro assays of one of the missense variants (p.Cys420Tyr) demonstrates disruption of GATAD2A integration with CHD3, CHD4, and CHD5
PMID: 17565372 - null mouse model is embryonic lethal.
Sources: Literature
Fetal anomalies v1.101 KIF21A Chirag Patel gene: KIF21A was added
gene: KIF21A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KIF21A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF21A were set to PMID: 34740919
Phenotypes for gene: KIF21A were set to Severe fetal akinesia with arthrogryposis multiplex
Review for gene: KIF21A was set to AMBER
Added comment: 2 unrelated consanguineous Turkish families with 5 affected fetuses with severe fetal akinesia with arthrogryposis multiplex. WES identified different homozygous LOF variants in KIF21A gene (p.Leu449* and p.Arg791Glufs*8). Parents and a healthy sibling were heterozygous carriers. No functional studies.
Sources: Literature
Fetal anomalies v1.95 CRIPT Zornitza Stark Publications for gene: CRIPT were set to 24389050; 27250922
Fetal anomalies v1.93 ESAM Chern Lim gene: ESAM was added
gene: ESAM was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESAM were set to 36996813
Phenotypes for gene: ESAM were set to Neurodevelopmental disorder (MONDO#0700092), ESAM-related
Review for gene: ESAM was set to GREEN
gene: ESAM was marked as current diagnostic
Added comment: PMID 36996813
- Thirteen affected individuals, including four fetuses, from eight unrelated families, with homozygous loss-of-function-type variants in ESAM – 2 of the variants are frameshifts, 1x nonsense, 1x canonical splice.
- Affected individuals have profound global developmental delay/unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/cerebral calcifications, the latter being also observed in the fetuses.
- One of the frameshift variant c.115del (p.Arg39Glyfs*33), was detected in six individuals from four unrelated families from the same geographic region in Turkey (southeastern Anatolia), suggesting a founder effect.
- The c.451+1G>A variant was detected in three individuals from two independent families with the same ethnic origin (Arab Bedouin)
Sources: Literature
Fetal anomalies v1.93 FILIP1 Paul De Fazio gene: FILIP1 was added
gene: FILIP1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FILIP1 were set to 36943452
Phenotypes for gene: FILIP1 were set to Arthrogryposis multiplex congenita MONDO:0015168
Penetrance for gene: FILIP1 were set to unknown
Review for gene: FILIP1 was set to GREEN
gene: FILIP1 was marked as current diagnostic
Added comment: 3 families, all consanguineous, reported with 3 different homozygous loss of function variants (2x NMD-predicted nonsense, 1x intragenic deletion of exons 3-6 of 6). In one family, the variant segregated in 3 affected siblings.

Phenotypes consist of congenital contractures affecting shoulder, elbow, hand, hip, knee and foot as well as scoliosis, reduced palmar and plantar skin folds, microcephaly (-1.5 to -4 SD), and facial dysmorphism.
Sources: Literature
Fetal anomalies v1.90 PLXND1 Zornitza Stark gene: PLXND1 was added
gene: PLXND1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PLXND1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLXND1 were set to 35396997
Phenotypes for gene: PLXND1 were set to Congenital heart disease, MONDO:0005453, PLXND1-related
Review for gene: PLXND1 was set to GREEN
Added comment: 10 individuals including four fetal cases from five unrelated families were identified with biallelic variants in PLXND1 gene and they presented with cardiac defects. The most frequent defect is common arterial trunk (CAT)/truncus arteriosus.
Sources: Literature
Fetal anomalies v1.89 HMGB1 Ain Roesley Publications for gene: HMGB1 were set to 34164801
Fetal anomalies v1.87 EFCAB1 Zornitza Stark gene: EFCAB1 was added
gene: EFCAB1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: EFCAB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFCAB1 were set to 36727596
Phenotypes for gene: EFCAB1 were set to Primary ciliary dyskinesia, MONDO:0016575, EFCAB1-related
Review for gene: EFCAB1 was set to GREEN
Added comment: WES in 3 individuals with laterality defects and respiratory symptoms, identified homozygous pathogenic variants in CLXN (EFCAB1). They found Clxn expressed in mice left-right organizer. Transmission electron microscopy depicted outer dynein arm (ODA) defects in distal ciliary axonemes. Immunofluorescence microscopy revealed absence of CLXN from the ciliary axonemes, absence of the ODA components DNAH5, DNAI1 and DNAI2 from the distal axonemes, as well as mislocalization or absence of DNAH9. Additionally, CLXN is undetectable in ciliary axonemes of individuals with defects in the outer dynein arm docking (ODA-DC) machinery: ODAD1, ODAD2, ODAD3 and ODAD4. Moreover, SMED-EFCAB1-deficient planaria displayed ciliary dysmotility.
Sources: Literature
Fetal anomalies v1.84 GOLGA2 Zornitza Stark edited their review of gene: GOLGA2: Added comment: Third family reported but again hypoplasia of CC which may be difficult to detect. Onset of microcephaly uncertain.; Changed publications: 34424553; Changed phenotypes: Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240
Fetal anomalies v1.82 SLC31A1 Daniel Flanagan gene: SLC31A1 was added
gene: SLC31A1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC31A1 were set to PMID: 35913762; 36562171
Phenotypes for gene: SLC31A1 were set to Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092)
Review for gene: SLC31A1 was set to AMBER
Added comment: PMID:36562171
Homozygous c.236T>C; p.(Leu79Pro) identified in a newborn of consanguineous parents. Variant absent from gnomAD. Prenatal ultrasound showed a male fetus with short femoral bones, an apparently enlarged heart-to-thorax ratio, and a wide cisterna magna. The infant was born with pulmonary hypoplasia. At 2 weeks of age, multifocal brain hemorrhages were diagnosed and the infant developed seizures. The infant died at 1 month of age. The Mother had three healthy children while nine pregnancies had been extrauterine gravidities or ended in first or mid-trimester spontaneous abortions.

PMID: 35913762
SLC31A1 is also referred to as CTR1.
Monozygotic twins with hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency. Homozygous for a novel missense variant (p.(Arg95His)) in copper transporter CTR1, both parents heterozygous. A mouse knock-out model of CTR1 deficiency resulted in prenatal lethality.
Sources: Expert list
Fetal anomalies v1.81 CDK5 Zornitza Stark Publications for gene: CDK5 were set to 25560765
Fetal anomalies v1.78 KDM2B Ain Roesley gene: KDM2B was added
gene: KDM2B was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KDM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM2B were set to 36322151
Phenotypes for gene: KDM2B were set to neurodevelopmental disorder MONDO#070009, KDM2B-related
Review for gene: KDM2B was set to GREEN
gene: KDM2B was marked as current diagnostic
Added comment: 27 individuals from 22 families were recruited
13 SNV classified LP/P, all de novo except 2 familial cases
5 variants were classified as VUS if more than 1 het is present in gnomAD or does result in a KDM2B-specific episignature (therefore suggesting normal function)

14 families with SNVs and a variety of cardiac anomalies including ASD, VSD, MR, PDA, PFO, Atrial septal aneurysm and Mild mitral insufficiency
Sources: Literature
Fetal anomalies v1.76 PDIA6 Chirag Patel reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35856135; Phenotypes: Polycystic kidney disease, infancy-onset diabetes, and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.73 MED11 Ain Roesley gene: MED11 was added
gene: MED11 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED11 were set to 36001086
Phenotypes for gene: MED11 were set to neurodevelopmental disorder MONDO#0700092, MED11-related
Review for gene: MED11 was set to AMBER
gene: MED11 was marked as current diagnostic
Added comment: 7 affected from 5 families (3x consang) with the same recurrent variant of p.(Arg109*).

Protein truncating, NOT NMD as proven by RT-PCR and western blot. Zebrafish knockout model recapitulates key clinical phenotypes

NO evidence of founder effect from haplotype analysis

7/7 cerebral dysgyria, cortical atrophy
5/7 limb contracture
4/7 epilepsy
3/7 families with IUGR
3/7 GDD
3/7 hearing loss
3/7 undescended testis
2/7 nystagmus
1/7 congenital cataract
Sources: Literature
Fetal anomalies v1.71 FOSL2 Krithika Murali gene: FOSL2 was added
gene: FOSL2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related
Review for gene: FOSL2 was set to GREEN
Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies).

In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism.

Clinical features included:
- Cutis aplasia congenital of the scalp (10/11)
- Tooth enamel hypoplasia and discolouration (8/9)
- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis
- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)
- 6/9 IUGR
- 5/9 postnatal growth restriction
- 7/9 developmental delay/ID
- 5/7 ADHD/ASD
- 2/9 seizures
Sources: Literature
Fetal anomalies v1.71 KCNK3 Krithika Murali gene: KCNK3 was added
gene: KCNK3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNK3 were set to 36195757
Phenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related; developmental delay with sleep apnoea (DDSA)
Review for gene: KCNK3 was set to GREEN
Added comment: PMID 36195757 Sörmann et al 2022 report 9 unrelated individuals with de novo heterozygous KCNK3 missense variants (21 weeks to 25 years old). All 8 living probands (3-25 years) had hypotonia, global developmental delay, central and/or obstructive sleep apnoea and feeding difficulties. 7/9 probands had additional anomalies including microcephaly (at least 3/9), arthrogryposis/flexion contractures/foot deformities (7/9), scoliosis, cleft palate (2/9), and ambiguous genitalia/undescended testes (5/6) and dysmorphism. IUGR reported in 3/9 probands and polyhdramnios in 2/9.

KCNK3 encodes the TASK-1 K2P channel expressed throughout the central nervous system. All identified variants clustered near the X-gate and are involved in inter- or intra-subunit interaction likely to hold the X-gate closed. Individuals with variants located in the M2 transmembrane helix had a more severe phenotype than those with variants in the M4 helix. Functional studies support a gain of function disease mechanism with increased channel activation. TASK-1 K+ channel inhibitors (some in clinical use) have been raised as a possible therapeutic strategy.

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Heterozygous LoF variants associated with a different disorder - primary pulmonary arterial hypertension
Sources: Literature
Fetal anomalies v1.70 ATP7A Zornitza Stark changed review comment from: Well established gene-disease association, IUGR is a feature.; to: Well established gene-disease association, IUGR is a feature.

Treatment: subcutaneous injections of copper histidine or copper chloride

ClinGen has assessed as moderate evidence for actionability.

Neonatal treatment with subcutaneous copper-histidine (initiated before 30 days of life) is recommended for asymptomatic males with a diagnosis of MD, but is not recommended for symptomatic boys or after 30 days of life. Treatment should be continued indefinitely. In an open-label clinical trial, 12 patients with MD treated with copper-histidine within 22 days of life had 92% survival after a mean follow-up of 4.6 years compared to 13% in a historical control group of 15 patients treated after a late diagnosis (mean age at diagnosis: 163 ± 113 days, range: 42 to 390). Two of the 12 patients with earlier treatment had normal neurological development. A second open-label trial of 35 presymptomatic patients receiving copper-histidine at less than a month of age reported significant improvement of four major neurodevelopmental (gross motor, fine motor/adaptive, personal/social, and language) domains and a non-significant lower mortality (28.5% vs 50%) at age of 3 years (or age of death) compared to 22 patients treated later and after onset of symptoms.
Fetal anomalies v1.69 USP9X Krithika Murali reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: None; Publications: 31443933, 26833328; Phenotypes: Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968); 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 v1.69 NODAL Zornitza Stark Publications for gene: NODAL were set to 9354794; 19064609
Fetal anomalies v1.64 ADAMTS15 Zornitza Stark gene: ADAMTS15 was added
gene: ADAMTS15 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ADAMTS15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS15 were set to 35962790
Phenotypes for gene: ADAMTS15 were set to Arthrogryposis (MONDO:0008779), ADMATS15-related
Review for gene: ADAMTS15 was set to GREEN
Added comment: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: contractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding, missing teeth, or arched palate) (4/5).
Sources: Literature
Fetal anomalies v1.62 NPNT Zornitza Stark Publications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792
Fetal anomalies v1.60 NPNT Chirag Patel gene: NPNT was added
gene: NPNT was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NPNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792
Phenotypes for gene: NPNT were set to Renal agenesis, no OMIM #
Review for gene: NPNT was set to GREEN
Added comment: 3 consanguineous families with multiple affecteds with bilateral renal agenesis. Whole-exome sequencing (WES)-based homozygosity mapping identified 2 homozygous truncating variants. Reverse transcription polymerase chain reaction data showing complete nonsense-mediated decay of the NPNT transcript. Loss of nephronectin (NPNT) is known to lead to failure of metanephric kidney development with resulting renal agenesis in murine models.
Sources: Literature
Fetal anomalies v1.58 KIF5B Chirag Patel gene: KIF5B was added
gene: KIF5B was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5B were set to PMID: 35342932
Phenotypes for gene: KIF5B were set to Kyphomelic dysplasia, no OMIM #
Review for gene: KIF5B was set to GREEN
Added comment: 4 individuals with Kyphomelic dysplasia (severe bowing of the limbs, sharp angulation of the femora and humeri, short stature, narrow thorax, distinctive facial features, and neonatal respiratory distress. WES found de novo heterozygous missense variants in KIF5B encoding kinesin-1 heavy chain. All variants involved conserved amino acids in or close to the ATPase activity-related motifs in the catalytic motor domain of the KIF5B protein. No functional studies of variants.

Previously 2 animal model experiments showed that loss of function of KIF5B can cause kyphomelic dysplasia. First, chondrocyte-specific knockout of Kif5b in mice was shown to produce a disorganized growth plate, leading to bone deformity. Second, double mutants disrupting the two zebrafish kif5b caused abnormal skeletal morphogenesis and the curvature of Meckel's and ceratohyal cartilages.
Sources: Literature
Fetal anomalies v1.56 SETD5 Zornitza Stark Mode of inheritance for gene: SETD5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.55 SETD5 Zornitza Stark reviewed gene: SETD5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, autosomal dominant 23 (MIM # 615761); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.54 ZMYND8 Zornitza Stark gene: ZMYND8 was added
gene: ZMYND8 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: ZMYND8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMYND8 were set to 35916866; 32530565
Phenotypes for gene: ZMYND8 were set to Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related; Delayed speech and language development; Motor delay; Intellectual disability; Abnormality of cardiovascular system morphology; Hearing abnormality; Abnormality of vision; Abnormality of the face; Seizures
Review for gene: ZMYND8 was set to GREEN
Added comment: Dias et al (2022 - PMID: 35916866) describe the phenotype of 11 unrelated individuals with monoallelic de novo (or suspected de novo) missense (N=9) or truncating (N=2) ZMYND8 variants. One of these subjects was previously reported by Suzuki et al (2020 - PMID: 32530565).

Features included speech delay/language difficulties (9/11), motor delay (9/11), ID (in 10/11 - profound in 1, moderate in 2), CHD (7/11 - PDA, VSD, ASD, pulmonary stenosis, etc), hearing or vision impairment (7/11). Seizures were reported in few (in text 5/11, table 2/11). Variable non-familial facial features were present in (9/11).

As the authors discuss, ZMYND8 encodes a multidomain protein playing a role in transcription regulation, chromatin remodeling, regulation of super enhancers, DNA damage response/tumor suppression.

The protein is broadly expressed in brain and shows highest expression in early development.

Molecular modeling and/or a yeast two-hybrid system were suggestive of disrupted interaction of ZMYND8 with Drebrin (missense variants in PWWP domain) or GATAD2A (variants in MYND domain).

Neuronal Zmynd8 knockdown in Drosophila resulted in deficits in habituation learning.
Sources: Expert Review
Fetal anomalies v1.51 BMP3 Seb Lunke gene: BMP3 was added
gene: BMP3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: BMP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMP3 were set to 35089417
Phenotypes for gene: BMP3 were set to coloboma, MONDO:0001476; microphthalmia, MONDO:0021129
Added comment: Single missense variant identified segregating with disease following WES screen in a family with coloboma and/or microphthalmia in BMP3. Two additional unrelated patients identified with different missense in BMP3. Pathogenicity however largely on in-silicos, with one of the 3 missense having 29 hets in gnomAD. Additional functional work in bmp3 -/- zebra fish and some supporting evidence but not conclusive.
Sources: Literature
Fetal anomalies v1.49 SPTA1 Zornitza Stark gene: SPTA1 was added
gene: SPTA1 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: SPTA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPTA1 were set to 34132406; 35483216; 31333484; 29594000
Phenotypes for gene: SPTA1 were set to Spherocytosis type 3 #270970; Elliptocytosis-2 #130600; pyropoikilocytosis #266140
Review for gene: SPTA1 was set to GREEN
Added comment: Severe presentations with hydrops reported.
Sources: Expert Review
Fetal anomalies v1.48 PPP1R13L Zornitza Stark Phenotypes for gene: PPP1R13L were changed from Dilated cardiomyopathy, onset in infancy; Cleft lip and palate to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related; Dilated cardiomyopathy, onset in infancy; Cleft lip and palate
Fetal anomalies v1.47 PPP1R13L Krithika Murali edited their review of gene: PPP1R13L: Changed phenotypes: Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related disorder, Dilated cardiomyopathy, onset in infancy, Cleft lip and palate
Fetal anomalies v1.47 GINS3 Zornitza Stark gene: GINS3 was added
gene: GINS3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GINS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GINS3 were set to 35603789
Phenotypes for gene: GINS3 were set to Meier-Gorlin syndrome, MONDO:0016817, GINS3-related
Review for gene: GINS3 was set to GREEN
Added comment: 7 individuals from 5 families reported, presenting with prenatal and postnatal growth deficiency as well as other features. Three unique missense variants identified, two affecting p.Asp24. These variants are thought to be hypomorphic. Supportive mouse model.
Sources: Literature
Fetal anomalies v1.45 UBA2 Zornitza Stark Publications for gene: UBA2 were set to PMID: 31332306; 31587267
Fetal anomalies v1.44 TTC25 Zornitza Stark Publications for gene: TTC25 were set to 27486780
Fetal anomalies v1.41 WNT7B Zornitza Stark gene: WNT7B was added
gene: WNT7B was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WNT7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT7B were set to 35790350
Phenotypes for gene: WNT7B were set to Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome; Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related
Review for gene: WNT7B was set to GREEN
Added comment: Three families reported with fetuses with multiple congenital anomalies and bi-allelic LoF variants. Two of the families had at the same variant. Supportive zebrafish model.
Sources: Literature
Fetal anomalies v1.39 PAN2 Naomi Baker gene: PAN2 was added
gene: PAN2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PAN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAN2 were set to PMID:35304602; 29620724
Phenotypes for gene: PAN2 were set to Syndromic disease MONDO:0002254
Added comment: PMID:35304602 reports five individuals from 3 families with biallelic (homozygous) loss-of-function variants. Clinical presentation incudes mild-moderate intellectual disability, hypotonia, sensorineural hearing loss, EEG abnormalities, congenital heart defects (tetralogy of Fallot, septal defects, dilated aortic root), urinary tract malformations, ophthalmological anomalies, short stature with other skeletal anomalies, and craniofacial features including flat occiput, ptosis, long philtrum, and short neck.

PMID:29620724 reports one individual with biallelic (homozygous) loss-of-function variant who presented with global developmental delay, mild hypotonia, craniosynostosis, severe early-onset scoliosis, imperforate anus, and double urinary collecting system.
Sources: Literature
Fetal anomalies v1.38 ETV2 Zornitza Stark gene: ETV2 was added
gene: ETV2 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: ETV2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETV2 were set to 33359164
Phenotypes for gene: ETV2 were set to multiple fetal anomalies; congenital heart disease MONDO:000545, ETV2-related; vertebral malformations
Review for gene: ETV2 was set to RED
Added comment: 1 family with 4 fetus-es all cHet for a fs (NMD-predicted) and a missense

3/4 vertebral malformations
2/4 Tetralogy of Fallot
1/4 arterial septal defect
1/4 ventricular septal defect, aortic dilatation
1/4 pre-axial polydactyly
Sources: Expert Review
Fetal anomalies v1.36 ADD1 Zornitza Stark gene: ADD1 was added
gene: ADD1 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: ADD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ADD1 were set to 34906466
Phenotypes for gene: ADD1 were set to Neurodevelopmental disorder MONDO:0700092, ADD1-related
Review for gene: ADD1 was set to GREEN
Added comment: 4 unrelated individuals affected by ID and/or complete or partial agenesis of corpus callosum, and enlarged lateral ventricles. WES found loss-of-function variants - 1 recessive missense variant and 3 de novo variants. The recessive variant is associated with ACC and enlarged lateral ventricles, and the de novo variants were associated with complete or partial agenesis of corpus callosum, mild ID and attention deficit. Human variants impair ADD1 protein expression and/or dimerization with ADD2. Add1 knockout mice recapitulate corpus callosum dysgenesis and ventriculomegaly phenotypes. Three adducin genes (ADD1, ADD2, and ADD3) encode cytoskeleton proteins that are critical for osmotic rigidity and cell shape. ADD1, ADD2, and ADD3 form heterodimers (ADD1/ADD2, ADD1/ADD3), which further form heterotetramers. Adducins interconnect spectrin and actin filaments to form polygonal scaffolds beneath the cell membranes and form ring-like structures in neuronal axons. Adducins regulate mouse neural development, but their function in the human brain is unknown
Sources: Expert Review
Fetal anomalies v1.34 MYO9A Zornitza Stark Publications for gene: MYO9A were set to 27259756; 29462312; 26752647
Fetal anomalies v1.29 USP14 Chirag Patel gene: USP14 was added
gene: USP14 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP14 were set to PMID: 35066879
Phenotypes for gene: USP14 were set to Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features; no OMIM #
Review for gene: USP14 was set to RED
Added comment: 3 fetuses from 2 different branches of a consanguineous family, presenting with distal arthrogryposis, underdevelopment of the corpus callosum, and dysmorphic facial features. Exome sequencing identified a biallelic 4-bp deletion (c.233_236delTTCC; p.Leu78Glnfs*11) in USP14, and sequencing of family members showed segregation with the phenotype. Ubiquitin-specific protease 14 (USP14) encodes a major proteasome-associated deubiquitinating enzyme with an established dual role as an inhibitor and an activator of proteolysis, maintaining protein homeostasis. Usp14-deficient mice show a phenotype similar to lethal human multiple congenital contractures phenotypes, with callosal anomalies, muscle wasting, and early lethality, attributed to neuromuscular junction defects due to decreased monomeric ubiquitin pool. RT-qPCR experiment in an unaffected heterozygote revealed that mutant USP14 was expressed, indicating that abnormal transcript escapes nonsense-mediated mRNA decay.
Sources: Literature
Fetal anomalies v1.27 FTO Bryony Thompson Publications for gene: FTO were set to 19559399; 26378117
Fetal anomalies v1.25 ODC1 Lucy Spencer gene: ODC1 was added
gene: ODC1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ODC1 were set to 30475435; 30239107
Phenotypes for gene: ODC1 were set to Bachmann-Bupp syndrome (MIM#619075)
Review for gene: ODC1 was set to GREEN
Added comment: Polyhydraminos are a common prenatal finding in individuals with ODC1 variants. Malformations of cortical development and intracranial calcification have also been reported.
Sources: Literature
Fetal anomalies v1.24 COASY Ain Roesley Publications for gene: COASY were set to 30089828
Fetal anomalies v1.19 CDK10 Ain Roesley gene: CDK10 was added
gene: CDK10 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CDK10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK10 were set to 28886341; 34974531
Phenotypes for gene: CDK10 were set to Al Kaissi syndrome MIM#617694
Review for gene: CDK10 was set to GREEN
gene: CDK10 was marked as current diagnostic
Added comment: 6 families reported

1x with IUGR, 1x hydrocephalus and 1x with fetal hydrops, hydrocephalus, multicystic, dysplastic kidneys, lung hypoplasia, cardiomyopathy, retrognathia

Small birth weight/sizes reported in all
Sources: Literature
Fetal anomalies v1.17 RSPO2 Zornitza Stark gene: RSPO2 was added
gene: RSPO2 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: RSPO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSPO2 were set to 29769720; 32457899
Phenotypes for gene: RSPO2 were set to Tetraamelia syndrome 2, MIM# 618021
Review for gene: RSPO2 was set to GREEN
Added comment: Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia. Four unrelated families and functional data including animal model.
Sources: Expert Review
Fetal anomalies v1.15 MDFIC Belinda Chong gene: MDFIC was added
gene: MDFIC was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDFIC were set to 35235341
Phenotypes for gene: MDFIC were set to Hydrops fetalis MONDO:0015193
Review for gene: MDFIC was set to GREEN
Added comment: Central conducting lymphatic anomaly (CCLA), characterized by the dysfunction of core collecting lymphatic vessels including the thoracic duct and cisterna chyli, and presenting as chylothorax, pleural effusions, chylous ascites, and lymphedema, is a severe disorder often resulting in fetal or perinatal demise.

Seven individuals with CCLA from six independent families. Clinical manifestations of affected fetuses and children included nonimmune hydrops fetalis (NIHF), pleural and pericardial effusions, and lymphedema. Generation of a mouse model of human MDFIC truncation variants revealed that homozygous mutant mice died perinatally exhibiting chylothorax.
Sources: Literature
Fetal anomalies v1.13 TNNI1 Krithika Murali gene: TNNI1 was added
gene: TNNI1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TNNI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNI1 were set to 34934811
Phenotypes for gene: TNNI1 were set to arthrogryposis; joint contractures
Review for gene: TNNI1 was set to AMBER
Added comment: No OMIM gene disease association reported

PMID 34934811 Nishimori et al report 2 individuals from a Japanese family with joint contractures, elevated CK and a novel heterozygous TNNI1 variant.

The proband was born with clasped thumbs (gestational age not stated) requiring surgical correction at 5 months of age. At age 14 was diagnosed with contractures of the neck, trunk, hip and knee with elevated serum CK (1689 IU/L). No muscle weakness noted. Muscle biopsy showed moth-eaten appearance of type I fibres and electron microscopy showed type 1 fibre Z disk streaming.

Trio exome sequencing identified a paternally heterozygous nonsense TNNI1 variant (c.523A>T p.K175*). The proband's father and paternal grandfather (not genotyped) also have a history of joint contractures with elevated CK.

The affected amino acid residue is in the tropomyosin binding site near the C-terminus and is highly conserved. The variant is absent from gnomAD. rt-PCR products of mRNA from the patient's muscle biopsy showed presence of both mutated and normal transcripts.
Sources: Literature
Fetal anomalies v1.11 NEXN Krithika Murali gene: NEXN was added
gene: NEXN was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NEXN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NEXN were set to 33947203; 33949776; 35166435; 32058062
Phenotypes for gene: NEXN were set to Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122
Review for gene: NEXN was set to GREEN
Added comment: NEXN encodes cardiac Z-disc protein. Monoallelic variants associated with both paediatric and adult-onset dilated cardiomyopathy. 3 unrelated families reported with biallelic variants associated with lethal fetal cardiomyopathy.

PMID 35166435 - 3 consecutive affected pregnancies with intrauterine fetal death, dilated cardiomyopathy +/- fetal hydrops/IUGR. Autopsy findings of DCM, endomyocardial fibroelastosis. Non-consanguineous Swedish family. Homozygous variant identified - (NM_144573:c.1302del;p.(Ile435Serfs*3)). Heterozygous carriers enriched in Swedish population.


PMID: 33949776 - Report a 11 year old with mild DCM on cardiac MRI with a heterozygous paternally inherited variant (1949_1951del), father also had mild DCM. Also report a 2nd patient who presented with fetal Hydrops at 33 weeks gestation requiring emergency C-section. Homozygous c.1174C > T,p.(R392*) variants identified. Microscopic investigation showed endomyocardial fibroelastosis.

PMID: 32058062 - male fetus, compound het, DCM, MTOP; previous pregnancy with the same history.
Sources: Literature
Fetal anomalies v1.9 SCAF4 Lucy Spencer gene: SCAF4 was added
gene: SCAF4 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCAF4 were set to PMID: 32730804
Phenotypes for gene: SCAF4 were set to Neurodevelopmental disorder, SCAF4-related MONDO#0700092
Review for gene: SCAF4 was set to GREEN
Added comment: PMID: 32730804- 11 individuals with SCAF4 variants, 9 are de novo. Present with mild to severe ID/Dev delay, most have seizures, 4 have cardiac defects, 4 have renal anomalies, 3 have urogenital anomalies, 6 have skeletal anomalies, 2 have GI anomalies.
Sources: Literature
Fetal anomalies v1.7 NAA15 Zornitza Stark Publications for gene: NAA15 were set to 31127942
Fetal anomalies v1.5 EFNB1 Bryony Thompson Mode of inheritance for gene: EFNB1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Other
Fetal anomalies v1.4 NARS Krithika Murali gene: NARS was added
gene: NARS was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NARS were set to 32738225; 32788587
Phenotypes for gene: NARS were set to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive - MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant - MIM#619092
Review for gene: NARS was set to GREEN
Added comment: HGNC approved gene symbol - NARS1

Both mono allelic and biallelic variants associated with a progressive neurological disorder with onset in infancy. Antenatal features reported.

PMID 32738225 - reports roband with de novo heterozygous variant - IUGR and oligohydramnios noted prenatally. At birth noted to have low weight and OFC for gestational age. Proband with homozygous variant diagnosed with microcephaly, seizures and FTT in the neonatal period. Proband with compound het variants born with a low weight (-2.38 SD) and height (-3.76 SD) for gestational age. Review of supplementary material table - microcephaly at birth reported in 17 unrelated families.
Sources: Literature
Fetal anomalies v1.2 ZNF335 Zornitza Stark gene: ZNF335 was added
gene: ZNF335 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: ZNF335 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF335 were set to 23178126; 27540107; 29652087; 34982360
Phenotypes for gene: ZNF335 were set to Microcephaly 10, primary, autosomal recessive (MIM#615095)
Review for gene: ZNF335 was set to GREEN
Added comment: Microcephaly is generally primary, including reports of -9SD at birth.
Sources: Expert Review
Fetal anomalies v0.4729 OXR1 Krithika Murali gene: OXR1 was added
gene: OXR1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXR1 were set to PMID: 31785787
Phenotypes for gene: OXR1 were set to Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay - MIM#213000
Review for gene: OXR1 was set to GREEN
Added comment: Early-onset condition associated with cerebellar atrophy and severe global developmental delay. Limited antenatal information provided but affected individuals were much older at the time of formal diagnosis PMID: 31785787, antenatal detection may be possible.

---
5 individuals from 3 unrelated families reported with bi-allelic variants in this gene. Presentation was in early childhood with hypotonia, global developmental delay, delayed walking at about age 3 years, and severely impaired intellectual development with profound speech delay or even absent language. All also developed epilepsy between 7 and 10 years of age, but the seizures were controlled by medication in most. Subtle nonspecific dysmorphic features included poor overall growth, large forehead, tall face, mild hypertelorism, joint hyperlaxity, and long fingers and toes. Brain imaging in all 5 individuals showed cerebellar atrophy and dysplasia. Additional cerebellar features, such as tremor, ataxia, and nystagmus, were not noted in these individuals.
Sources: Literature
Fetal anomalies v0.4729 MED27 Krithika Murali gene: MED27 was added
gene: MED27 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286
Review for gene: MED27 was set to GREEN
Added comment: Severe neurodevelopmental disorder with onset in infancy associated with multiple, significant brain anomalies which may be detectable antenatally (although antenatal phenotype not reported in published cases)
Sources: Literature
Fetal anomalies v0.4729 EXOSC9 Krithika Murali gene: EXOSC9 was added
gene: EXOSC9 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: EXOSC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC9 were set to 33040083; 30690203; 29727687
Phenotypes for gene: EXOSC9 were set to Pontocerebellar hypoplasia, type 1D - MIM#618065
Review for gene: EXOSC9 was set to GREEN
Added comment: Multiple antenatal features reported including IUGR, reduced fetal movements, oligohydramnios, congenital fractures and contractures.
Sources: Literature
Fetal anomalies v0.4725 RBP4 Zornitza Stark gene: RBP4 was added
gene: RBP4 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: RBP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBP4 were set to 25910211; 29178648
Phenotypes for gene: RBP4 were set to Microphthalmia, isolated, with coloboma 10 MIM#616428
Review for gene: RBP4 was set to GREEN
Added comment: At least 3 unrelated microphthalmia, anophthalmia and coloboma families and supporting functional assays. Study established an uncharacterized mode of maternal inheritance, distinct from imprinting and oocyte-derived mRNA.
Sources: Expert Review
Fetal anomalies v0.4723 PRR12 Zornitza Stark gene: PRR12 was added
gene: PRR12 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: PRR12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRR12 were set to 33314030; 29556724
Phenotypes for gene: PRR12 were set to Neuroocular syndrome, MIM#619539; Complex microphthalmia
Review for gene: PRR12 was set to GREEN
Added comment: PMID 33314030: Four unrelated families reported with unilateral or bilateral microphthalmia +/- Peters anomaly. In addition, 3 unrelated families reported with more complex phenotype including ID in PMID 29556724.
Sources: Expert Review
Fetal anomalies v0.4722 EXOSC8 Krithika Murali gene: EXOSC8 was added
gene: EXOSC8 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC8 were set to 34210538; 24989451
Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C - MIM#616081
Review for gene: EXOSC8 was set to GREEN
Added comment: Severe autosomal recessive neurodegenerative disorder. PMID 24989451 report polyhydramnios, vermis hypoplasia, mega cisterna magna and corpus callosum anomalies in affectd individuals
Sources: Literature
Fetal anomalies v0.4721 MAB21L1 Zornitza Stark gene: MAB21L1 was added
gene: MAB21L1 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 30487245
Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479
Review for gene: MAB21L1 was set to GREEN
Added comment: Pontocerebellar hypoplasia, Dandy-Walker malformation, microcephaly reported.
Sources: Expert Review
Fetal anomalies v0.4719 FBXW11 Zornitza Stark gene: FBXW11 was added
gene: FBXW11 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBXW11 were set to Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914
Review for gene: FBXW11 was set to GREEN
Added comment: 7 unrelated individuals; structural brain, eye and limb anomalies.
Sources: Expert Review
Fetal anomalies v0.4718 EXOSC5 Krithika Murali gene: EXOSC5 was added
gene: EXOSC5 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: EXOSC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC5 were set to 32504085; 29302074
Phenotypes for gene: EXOSC5 were set to Cerebellar ataxia, brain abnormalities, and cardiac conduction defects - MIM#619576
Review for gene: EXOSC5 was set to GREEN
Added comment: Associated with congenital anomalies
Sources: Literature
Fetal anomalies v0.4717 CAPN15 Zornitza Stark gene: CAPN15 was added
gene: CAPN15 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN15 were set to 32885237
Phenotypes for gene: CAPN15 were set to Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318; microphthalmia HP:0000568; coloboma HP:0000589
Review for gene: CAPN15 was set to GREEN
Added comment: PMID: 32885237 - Zha et al 2020 - report 5 individuals with microphthalmia and/or coloboma from 4 independent families who, through WES, were identified as carrying homozygous or compound heterozygous missense variants in CAPN15 that are predicted to be damanging. the variants segregated with the disease in all 4 families, with parents being unaffected heterozygous carriers. Several individuals had additional phenotypes including growth deficits (2 families), developmental delay (2 families) and hearing loss (2 families). Capn15 knockout mice showed similar severe developmental eye defects, including anophthalmia, microphthalmia and cataract, and diminished growth.
Sources: Expert Review
Fetal anomalies v0.4715 C16orf62 Zornitza Stark gene: C16orf62 was added
gene: C16orf62 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C16orf62 were set to 25434475; 31712251
Phenotypes for gene: C16orf62 were set to Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Review for gene: C16orf62 was set to AMBER
Added comment: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475;31712251).

Microphthalmia and multiple other anomalies.
Sources: Expert Review
Fetal anomalies v0.4714 CWF19L1 Krithika Murali gene: CWF19L1 was added
gene: CWF19L1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWF19L1 were set to 27016154
Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17 - MIM#616127
Review for gene: CWF19L1 was set to GREEN
Added comment: Fetal phenotype also described by 27016154 - MTOP at 22 weeks of gestation of an affected fetus due to small cerebellum and agenesis of corpus callosum. Postmortem examination showed unilateral hexadactyly and vertebral malformations.
Sources: Literature
Fetal anomalies v0.4707 BRF1 Krithika Murali gene: BRF1 was added
gene: BRF1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRF1 were set to 25561519; 25561519; 27748960
Phenotypes for gene: BRF1 were set to Cerebellofaciodental syndrome - MIM#616202
Review for gene: BRF1 was set to GREEN
Added comment: Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia.

At least 5 unrelated families and a zebrafish model.
Sources: Literature
Fetal anomalies v0.4702 MTX2 Krithika Murali gene: MTX2 was added
gene: MTX2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTX2 were set to 32917887
Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia progeroid syndrome - MIM#619127
Review for gene: MTX2 was set to GREEN
Added comment: Biallelic variants associated with severe progeroid form of MAD
Sources: Literature
Fetal anomalies v0.4702 TMEM218 Krithika Murali gene: TMEM218 was added
gene: TMEM218 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM218 were set to 33791682; 25161209
Phenotypes for gene: TMEM218 were set to Joubert syndrome 39 - MIM#619562
Review for gene: TMEM218 was set to GREEN
Added comment: Associated with Jouberty syndrome. Occipital encephalocele reported in 5 fetuses.
Sources: Literature
Fetal anomalies v0.4702 NID1 Krithika Murali gene: NID1 was added
gene: NID1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NID1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NID1 were set to 23674478; 25558065; 12480912; 30773799
Phenotypes for gene: NID1 were set to Dandy-Walker malformation and occipital cephalocele; Hydrocephalus with or without seizures
Review for gene: NID1 was set to GREEN
Added comment: No OMIM gene disease association. Monoallelic variants associated with brain anomalies including hydrocephalus, Dandy Walker malformation and occipital cephalocele.
-
Sources: Literature
Fetal anomalies v0.4702 KIAA0556 Krithika Murali gene: KIAA0556 was added
gene: KIAA0556 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0556 were set to 26714646; 27245168
Phenotypes for gene: KIAA0556 were set to Joubert syndrome 26 - MIM#616784
Review for gene: KIAA0556 was set to GREEN
Added comment: Associated with Joubert syndrome.

5 individuals from two families reported, supportive mouse model.

New HGNC approved name is KATNIP.
Sources: Literature
Fetal anomalies v0.4702 IFT74 Krithika Murali gene: IFT74 was added
gene: IFT74 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 33531668; 27486776; 32144365
Phenotypes for gene: IFT74 were set to ?Bardet-Biedl syndrome 22 - MIM#617119; Joubert syndrome 40 - MIM#619582
Review for gene: IFT74 was set to GREEN
Added comment: Biallelic variants associated with both Joubert and Bardet-Biedl syndrome phenotype - multiple congenital anomalies reported.
Sources: Literature
Fetal anomalies v0.4702 FAM149B1 Krithika Murali gene: FAM149B1 was added
gene: FAM149B1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to 30905400
Phenotypes for gene: FAM149B1 were set to Joubert syndrome 36 - MIM#618763
Review for gene: FAM149B1 was set to GREEN
Added comment: Biallelic variants associated with Joubert syndrome in 4 unrelated families. Reported characteristics in published cases includes macrocephaly, mesoaxial polydactyly and cleft lip
Sources: Literature
Fetal anomalies v0.4702 CCDC28B Krithika Murali gene: CCDC28B was added
gene: CCDC28B was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC28B were set to 32139166
Phenotypes for gene: CCDC28B were set to Joubert syndrome
Review for gene: CCDC28B was set to AMBER
Added comment: No new publications since last PanelApp review May 2020

---

PMID: 32139166 - Single family with Joubert syndrome. Patient was homozygous for a missense, with polydactyly, severe ID, and the molar tooth sign observed in MRI. Sibling fetus MRI showed vermis hypoplasia, and was also homozygous for the variant. Parents confirmed unaffected carriers. Knockdown of CCDC28B in human TERT retinal pigment epithelial cells reduced both the number and length of cilia 430C-T variant is postulated to be a modifier of BBS.
Sources: Literature
Fetal anomalies v0.4702 ARL3 Krithika Murali gene: ARL3 was added
gene: ARL3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 30269812; 16565502
Phenotypes for gene: ARL3 were set to Joubert syndrome 35- MIM#618161
Review for gene: ARL3 was set to GREEN
Added comment: Associated with Joubert syndrome with antenatally detectable features including renal and brain anomalies
Sources: Literature
Fetal anomalies v0.4700 MORC2 Krithika Murali gene: MORC2 was added
gene: MORC2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MORC2 were set to 32693025
Phenotypes for gene: MORC2 were set to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy - MIM#619090
Review for gene: MORC2 was set to RED
Added comment: No new publications since last PanelApp review Dec 2020. No antenatal features reported.

---

MORC2 variants have commonly been associated with CMT, presenting axonal neuropathy with progressive weakness, muscle cramps and sensory impairment. However, Sacoto et al (2020) (PMID: 32693025) present a cohort of 20 individuals (19 kindreds) with a neurodevelopmental disorder characterised by DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Hearing loss was observed in 11/19 subjects, primarily SNHL.
Sources: Literature
Fetal anomalies v0.4699 MINPP1 Krithika Murali gene: MINPP1 was added
gene: MINPP1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MINPP1 were set to 33257696; 33168985
Phenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia, type 16 - MIM#619527
Review for gene: MINPP1 was set to GREEN
Added comment: Biallelic LoF variants associated with pontocerebellar hypoplasia. Early-onset progressive microcephaly is a phenotypic feature with one affected individual reported to have prenatal evidence of microcephaly associated with increased thalami echogenicity (PMID 33257696)
Sources: Literature
Fetal anomalies v0.4699 NCAPD2 Zornitza Stark gene: NCAPD2 was added
gene: NCAPD2 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: NCAPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPD2 were set to 31056748; 27737959; 28097321
Phenotypes for gene: NCAPD2 were set to Microcephaly 21, primary, autosomal recessive; OMIM #617983
Review for gene: NCAPD2 was set to GREEN
Added comment: Three families reported: 1 family with 2 sibs with microcephaly and ID, and homozygous NCAPD2 mutation, which segregated with disease. No functional evidence. 1 family with 1 affected and homozygous NCAPD2 mutation, which segregated with disease. Patient fibroblasts showed impaired chromosome segregation and abnormal recovery from mitotic condensation compared to controls. 1 family with 2 sibs with microcephaly, growth retardation, and ID, and homozygous NCAPD2 mutation, which segregated with disease. Functional studies of the variants and studies of patient cells were not performed.

IUGR reported.
Sources: Expert Review
Fetal anomalies v0.4697 NSRP1 Zornitza Stark gene: NSRP1 was added
gene: NSRP1 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSRP1 were set to 34385670
Phenotypes for gene: NSRP1 were set to Neurodevelopmental disorder, MONDO:0700092, NSRP1-related; Epilepsy; Cerebral palsy; microcephaly; Intellectual disability
Review for gene: NSRP1 was set to GREEN
Added comment: Novel gene regulating splicing. Biallelic LoF pathogenic variants reported in 6 individuals from 3 unrelated families associated with a phenotype characterized by developmental delay, epilepsy, microcephaly, and spastic cerebral palsy.

Structural brain abnormalities.
Sources: Expert Review
Fetal anomalies v0.4696 NUF2 Zornitza Stark gene: NUF2 was added
gene: NUF2 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: NUF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NUF2 were set to 33721060
Phenotypes for gene: NUF2 were set to Syndromic disease, MONDO:0002254; microcephaly; short stature; bilateral vocal cord paralysis; micrognathia; atrial septal defect
Review for gene: NUF2 was set to RED
Added comment: PMID: 33721060 - de novo missense variant identified in one male patient with microcephaly and short stature, with additional features, such as bilateral vocal cord paralysis, micrognathia and atrial septal defect.
Sources: Expert Review
Fetal anomalies v0.4694 NUP188 Zornitza Stark gene: NUP188 was added
gene: NUP188 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: NUP188 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP188 were set to 32021605; 28726809; 32275884
Phenotypes for gene: NUP188 were set to Sandestig-Stefanova syndrome, 618804; microcephaly; ID; cataract; structural brain abnormalities
Review for gene: NUP188 was set to GREEN
Added comment: 8 unrelated individuals reported.
Sources: Expert Review
Fetal anomalies v0.4692 NUP85 Zornitza Stark gene: NUP85 was added
gene: NUP85 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: NUP85 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP85 were set to 34170319
Phenotypes for gene: NUP85 were set to Microcephaly, MONDO:0001149, NUP85-related
Review for gene: NUP85 was set to AMBER
Added comment: PMID: 34170319 - Ravindran et al 2021 report two pedigrees with an MCPH-SCKS phenotype spectrum without SRNS. In the first family, a 9 yo female, with consanguineous parents, is reported to have a missense variant in NUP85 (c.932G > A; p.R311Q). Intrauterine growth restriction was noticed. At birth microcephaly was observed (OFC < 3rd centile, < −3.6 SD) as well as hypotrophy [weight −2.8 SD), length 45 cm (−2.7 SD), both <3rd centile], facial dysmorphism, syndactyly, long and thin fingers, and bilateral pes adductus. She has severe developmental delay with strongly delayed motor milestones and absent speech. Drug-resistant, genetic epilepsy with focal-onset seizures started in the first year of life. She had no clinical, laboratory or radiological findings indicative of kidney dysfunction. In the second family, compound heterozygous missense variants in NUP85 were detected (c.1109A > G, c.1589 T > C;p.N370S, p.M530T ) in a fetus. MRI of the fetal brain at 24 + 2 GW indicated complete agenesis of the corpus callosum, abnormal sulcation in the left frontal lobe, nodularity of the frontal horn and trigone with focal puckering of the left lateral ventricle.

Variants in this gene are also associated with nephrotic syndrome.
Sources: Expert Review
Fetal anomalies v0.4689 PUS7 Belinda Chong gene: PUS7 was added
gene: PUS7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS7 were set to 30526862; 30778726; 31583274
Phenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342
Review for gene: PUS7 was set to RED
gene: PUS7 was marked as current diagnostic
Added comment: Onset at infancy

11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease.
Sources: Literature
Fetal anomalies v0.4686 PTPN23 Belinda Chong gene: PTPN23 was added
gene: PTPN23 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN23 were set to 31395947; 29899372; 29090338; 27848944; 25558065
Phenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890
Review for gene: PTPN23 was set to GREEN
gene: PTPN23 was marked as current diagnostic
Added comment: Onset at birth or early infancy.

Over 10 families reported with an autosomal recessive neurologic disorder characterised by global developmental delay apparent from early infancy, poor overall growth often with microcephaly (6/10), impaired intellectual development with delayed or absent speech, axial hypotonia, and peripheral spasticity. Additional common but variable features include early-onset seizures, optic atrophy with poor visual fixation, and dysmorphic facial features. Brain imaging shows cerebral atrophy, poor or absent myelination with loss of white matter volume, and often hypoplasia of the corpus callosum and/or cerebellum.
Sources: Literature
Fetal anomalies v0.4686 PRIM1 Belinda Chong gene: PRIM1 was added
gene: PRIM1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRIM1 were set to 33060134
Phenotypes for gene: PRIM1 were set to Microcephalic primordial dwarfism, MONDO:0017950
Review for gene: PRIM1 was set to AMBER
gene: PRIM1 was marked as current diagnostic
Added comment: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.
Authors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD).

Clinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinaemia, and lymphopaenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.

Functional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype.
Sources: Literature
Fetal anomalies v0.4686 PPP1R15B Belinda Chong gene: PPP1R15B was added
gene: PPP1R15B was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PPP1R15B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R15B were set to 26159176; 26307080; 27640355
Phenotypes for gene: PPP1R15B were set to Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817
Review for gene: PPP1R15B was set to AMBER
gene: PPP1R15B was marked as current diagnostic
Added comment: Three unrelated families reported, two with the same variant. Phenotype in family reported in PMID 27640355 included infantile cirrhosis requiring transplantation.
Sources: Literature
Fetal anomalies v0.4686 PPIL1 Belinda Chong gene: PPIL1 was added
gene: PPIL1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIL1 were set to 33220177
Phenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia, type 14, MIM# 619301; microcephaly; seizures
Review for gene: PPIL1 was set to GREEN
gene: PPIL1 was marked as current diagnostic
Added comment: The patients presented at birth with severe microcephaly (-2 to -6 SD), which progressed postnatally (-4 to -8 SD)

17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association.
Sources: Literature
Fetal anomalies v0.4686 SYNCRIP Zornitza Stark gene: SYNCRIP was added
gene: SYNCRIP was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: SYNCRIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SYNCRIP were set to 34157790
Phenotypes for gene: SYNCRIP were set to SYNCRIP-related neurodevelopmental disorder
Review for gene: SYNCRIP was set to RED
Added comment: One of 8 individuals reported so far had PVNH. Other features present post-natally.
Sources: Expert Review
Fetal anomalies v0.4664 NPC2 Zornitza Stark Publications for gene: NPC2 were set to
Fetal anomalies v0.4661 NPHP1 Zornitza Stark Publications for gene: NPHP1 were set to
Fetal anomalies v0.4660 NKX2-5 Alison Yeung Publications for gene: NKX2-5 were set to
Fetal anomalies v0.4657 NPHP3 Zornitza Stark Publications for gene: NPHP3 were set to
Fetal anomalies v0.4653 NPHP4 Zornitza Stark Publications for gene: NPHP4 were set to
Fetal anomalies v0.4651 NRAS Zornitza Stark Publications for gene: NRAS were set to
Fetal anomalies v0.4647 NSD1 Zornitza Stark Publications for gene: NSD1 were set to
Fetal anomalies v0.4644 NSDHL Zornitza Stark Publications for gene: NSDHL were set to
Fetal anomalies v0.4643 NSDHL Zornitza Stark Mode of inheritance for gene: NSDHL was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.4642 NUP107 Zornitza Stark Phenotypes for gene: NUP107 were changed from EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME to Galloway-Mowat syndrome 7, MIM# 618348
Fetal anomalies v0.4641 NUP107 Zornitza Stark Publications for gene: NUP107 were set to
Fetal anomalies v0.4638 PCGF2 Zornitza Stark Publications for gene: PCGF2 were set to 30526864
Fetal anomalies v0.4635 PCNT Zornitza Stark Publications for gene: PCNT were set to
Fetal anomalies v0.4633 PDHA1 Zornitza Stark Publications for gene: PDHA1 were set to 26865159
Fetal anomalies v0.4631 PEX1 Zornitza Stark Publications for gene: PEX1 were set to
Fetal anomalies v0.4629 PEX10 Zornitza Stark Publications for gene: PEX10 were set to
Fetal anomalies v0.4627 PEX11B Zornitza Stark Publications for gene: PEX11B were set to
Fetal anomalies v0.4625 PEX12 Zornitza Stark Publications for gene: PEX12 were set to
Fetal anomalies v0.4623 PEX13 Zornitza Stark Publications for gene: PEX13 were set to
Fetal anomalies v0.4621 PEX14 Zornitza Stark Publications for gene: PEX14 were set to
Fetal anomalies v0.4619 PEX16 Zornitza Stark Publications for gene: PEX16 were set to
Fetal anomalies v0.4616 PEX19 Zornitza Stark Publications for gene: PEX19 were set to
Fetal anomalies v0.4614 PEX2 Zornitza Stark Publications for gene: PEX2 were set to
Fetal anomalies v0.4612 PEX26 Zornitza Stark Publications for gene: PEX26 were set to
Fetal anomalies v0.4610 PEX3 Zornitza Stark Publications for gene: PEX3 were set to
Fetal anomalies v0.4608 PEX5 Zornitza Stark Publications for gene: PEX5 were set to
Fetal anomalies v0.4606 NR2F2 Zornitza Stark Publications for gene: NR2F2 were set to
Fetal anomalies v0.4603 PEX6 Zornitza Stark Publications for gene: PEX6 were set to
Fetal anomalies v0.4601 PGAP2 Zornitza Stark Publications for gene: PGAP2 were set to
Fetal anomalies v0.4599 PGAP3 Zornitza Stark Publications for gene: PGAP3 were set to
Fetal anomalies v0.4597 PGM1 Zornitza Stark Publications for gene: PGM1 were set to
Fetal anomalies v0.4595 PHF8 Zornitza Stark Publications for gene: PHF8 were set to
Fetal anomalies v0.4593 PHGDH Zornitza Stark Publications for gene: PHGDH were set to
Fetal anomalies v0.4591 PHIP Zornitza Stark Publications for gene: PHIP were set to
Fetal anomalies v0.4587 PIEZO2 Zornitza Stark Publications for gene: PIEZO2 were set to
Fetal anomalies v0.4584 PIGA Zornitza Stark Publications for gene: PIGA were set to
Fetal anomalies v0.4582 PIGL Zornitza Stark Publications for gene: PIGL were set to
Fetal anomalies v0.4580 PIGO Zornitza Stark Publications for gene: PIGO were set to
Fetal anomalies v0.4578 PIGT Zornitza Stark Publications for gene: PIGT were set to
Fetal anomalies v0.4576 PIGV Zornitza Stark Publications for gene: PIGV were set to
Fetal anomalies v0.4574 PIK3CA Zornitza Stark Publications for gene: PIK3CA were set to 30712880; 28425981
Fetal anomalies v0.4570 PIK3R2 Zornitza Stark Publications for gene: PIK3R2 were set to 28425981
Fetal anomalies v0.4567 PITX3 Zornitza Stark Publications for gene: PITX3 were set to
Fetal anomalies v0.4564 PKD1L1 Zornitza Stark Publications for gene: PKD1L1 were set to
Fetal anomalies v0.4562 PKLR Zornitza Stark Publications for gene: PKLR were set to
Fetal anomalies v0.4560 PMM2 Zornitza Stark Publications for gene: PMM2 were set to
Fetal anomalies v0.4558 PNKP Zornitza Stark Publications for gene: PNKP were set to
Fetal anomalies v0.4555 POGZ Zornitza Stark Publications for gene: POGZ were set to
Fetal anomalies v0.4554 PLK1 Belinda Chong gene: PLK1 was added
gene: PLK1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PLK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLK1 were set to 33875846
Phenotypes for gene: PLK1 were set to Epilepsy; microcephaly; intellectual disability
Review for gene: PLK1 was set to AMBER
gene: PLK1 was marked as current diagnostic
Added comment: Five individuals reported with microcephaly. However, unclear if microcephaly is pre or post natal.
Sources: Literature
Fetal anomalies v0.4552 POLR1C Zornitza Stark Publications for gene: POLR1C were set to
Fetal anomalies v0.4549 POMT1 Zornitza Stark Publications for gene: POMT1 were set to
Fetal anomalies v0.4547 POMT2 Zornitza Stark Publications for gene: POMT2 were set to
Fetal anomalies v0.4546 PIGH Belinda Chong gene: PIGH was added
gene: PIGH was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGH were set to 29573052; 33156547; 29603516
Phenotypes for gene: PIGH were set to Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010
Review for gene: PIGH was set to AMBER
gene: PIGH was marked as current diagnostic
Added comment: Microcephaly appears to present at postnatal in these individuals.

Three further families reported, including two sibs with microcephaly.
Sources: Literature
Fetal anomalies v0.4546 PHC1 Belinda Chong gene: PHC1 was added
gene: PHC1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PHC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHC1 were set to 23418308
Phenotypes for gene: PHC1 were set to Microcephaly 11, primary, autosomal recessive, MIM#615414
Review for gene: PHC1 was set to RED
gene: PHC1 was marked as current diagnostic
Added comment: Short stature and microcephaly, currently not enough information.

Single family reported with functional data.
Sources: Literature
Fetal anomalies v0.4545 PORCN Zornitza Stark Publications for gene: PORCN were set to
Fetal anomalies v0.4543 POU1F1 Zornitza Stark Publications for gene: POU1F1 were set to
Fetal anomalies v0.4541 PPP2R1A Zornitza Stark Publications for gene: PPP2R1A were set to
Fetal anomalies v0.4537 PPP2R5D Zornitza Stark Publications for gene: PPP2R5D were set to
Fetal anomalies v0.4534 PPP1CB Zornitza Stark Publications for gene: PPP1CB were set to
Fetal anomalies v0.4532 PDCD6IP Belinda Chong gene: PDCD6IP was added
gene: PDCD6IP was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PDCD6IP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDCD6IP were set to 32286682
Phenotypes for gene: PDCD6IP were set to Primary microcephaly
Review for gene: PDCD6IP was set to AMBER
gene: PDCD6IP was marked as current diagnostic
Added comment: Primary microcephaly was noticed at birth and their occipital-frontal circumference (OFC) was ≤−2 standard deviations (SD), may be relevant for this panel however, currently not enough information.

One consanguineous family with 2 affected sibs with primary microcephaly (-4SD), intellectual disability and short stature (-5/6SD), and homozygous frameshift variant in PDCD6IP. The homozygous variant was confirmed in both affected sibs, while the four healthy siblings and parents were heterozygous. The clinical features observed in the patients were similar to the phenotypes observed in mouse and zebrafish models of PDCD6IP mutations in previous studies.
Sources: Literature
Fetal anomalies v0.4532 PCYT2 Belinda Chong gene: PCYT2 was added
gene: PCYT2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT2 were set to 31637422
Phenotypes for gene: PCYT2 were set to Spastic paraplegia 82, autosomal recessive MIM#618770
Review for gene: PCYT2 was set to RED
gene: PCYT2 was marked as current diagnostic
Added comment: Brain imaging shows progressive cerebral and cerebellar atrophy however, normal initially.

5 individuals from 4 families reported with progressive neurologic disorder characterized by global developmental delay apparent from infancy, significant motor impairment, and progressive spasticity mainly affecting the lower limbs. Some never achieved walking, whereas others lost the ability to walk or walk with an unsteady gait. Additional features included variably impaired intellectual development with language difficulties, ocular anomalies, such as nystagmus and visual impairment, and seizures. Brain imaging shows progressive cerebral and cerebellar atrophy, as well as white matter hyperintensities. Overall poor growth, but only one individual reported with microcephaly -3SD, and head size appears relatively spared against other reported growth parameters.
Sources: Literature
Fetal anomalies v0.4532 PCDH12 Belinda Chong gene: PCDH12 was added
gene: PCDH12 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDH12 were set to 27164683; 30178464
Phenotypes for gene: PCDH12 were set to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280
Review for gene: PCDH12 was set to GREEN
gene: PCDH12 was marked as current diagnostic
Added comment: Brain malformations were detectable antenatally.

Diencephalic-mesencephalic junction dysplasia syndrome-1 (DMJDS1) is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, severely delayed or even absent psychomotor development with profound intellectual disability, and spasticity or dystonia. Some patients may have seizures and/or visual impairment. Brain imaging shows a characteristic developmental malformation of the midbrain; subtle intracranial calcifications may also be present. At least 12 families reported.
Sources: Literature
Fetal anomalies v0.4532 PARP6 Belinda Chong gene: PARP6 was added
gene: PARP6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PARP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PARP6 were set to 34067418
Phenotypes for gene: PARP6 were set to Intellectual disability; Epilepsy; Microcephaly
Review for gene: PARP6 was set to GREEN
gene: PARP6 was marked as current diagnostic
Added comment: IUGR and partial agenesis of the corpus callosum has been observed.

Four unrelated individuals reported with de novo variants in this gene and a neurodevelopmental phenotype. Supportive functional data. One pair of siblings with a homozygous missense: limited evidence for bi-allelic variants causing disease.
Sources: Literature
Fetal anomalies v0.4518 PQBP1 Zornitza Stark Publications for gene: PQBP1 were set to
Fetal anomalies v0.4512 PRSS56 Zornitza Stark Publications for gene: PRSS56 were set to
Fetal anomalies v0.4510 RAB18 Zornitza Stark Publications for gene: RAB18 were set to
Fetal anomalies v0.4508 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to
Fetal anomalies v0.4506 RAB3GAP2 Zornitza Stark Publications for gene: RAB3GAP2 were set to
Fetal anomalies v0.4504 RAC1 Zornitza Stark Publications for gene: RAC1 were set to 30712878; 28886345
Fetal anomalies v0.4500 RAD21 Zornitza Stark Publications for gene: RAD21 were set to
Fetal anomalies v0.4497 RAF1 Zornitza Stark Publications for gene: RAF1 were set to
Fetal anomalies v0.4493 RAI1 Zornitza Stark Publications for gene: RAI1 were set to
Fetal anomalies v0.4489 RARB Zornitza Stark Publications for gene: RARB were set to
Fetal anomalies v0.4487 RARS2 Zornitza Stark Publications for gene: RARS2 were set to 26083569
Fetal anomalies v0.4485 RASA1 Zornitza Stark Publications for gene: RASA1 were set to
Fetal anomalies v0.4482 RAX Zornitza Stark Publications for gene: RAX were set to
Fetal anomalies v0.4478 MCM7 Krithika Murali gene: MCM7 was added
gene: MCM7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MCM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM7 were set to 33654309; 34059554
Phenotypes for gene: MCM7 were set to Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency
Review for gene: MCM7 was set to AMBER
Added comment: Association with congenital microcephaly. No new publications since last PanelApp review

---

MCM7 is a component of the MCM complex, a DNA helicase which is essential for DNA replication. Other components have been linked to disease with phenotypes including microcephaly and ID. MCM7 is not associated with any phenotype in OMIM or G2P at present. ------ Currently there are 3 unrelated pedigrees in literature with different biallelic MCM7 variants associated with disease (see below). Although there is some functional data in support of variant-level deleteriousness or gene-level pathogenicity, the clinical gestalt is very different between the 3 families.

- PMID: 33654309 (2021) - Two unrelated individuals with different compound het variants in MCM7 but disparate clinical features. One patient had typical Meier-Gorlin syndrome (including growth retardation, microcephaly, congenital lung emphysema, absent breast development, microtia, facial dysmorphism) whereas the second case had a multi-system disorder with neonatal progeroid appearance, lipodystrophy and adrenal insufficiency. While small at birth, the second patient did not demonstrate reduced stature or microcephaly at age 14.5 years. Both individuals had normal neurodevelopment. Functional studies using patient-derived fibroblasts demonstrate that the identified MCM7 variants were deleterious at either transcript or protein levels and through interfering with MCM complex formation, impact efficiency of S phase progression.

- PMID: 34059554 (2021) - Homozygous missense variant identified in three affected individuals from a consanguineous family with severe primary microcephaly, severe ID and behavioural abnormalities. Knockdown of Mcm7 in mouse neuroblastoma cells lead to reduced cell viability and proliferation with increased apoptosis, which were rescued by overexpression of wild-type but not mutant MCM7.
Sources: Literature
Fetal anomalies v0.4478 LMNB2 Krithika Murali gene: LMNB2 was added
gene: LMNB2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNB2 were set to 33033404
Phenotypes for gene: LMNB2 were set to Microcephaly 27, primary, autosomal dominant - MIM#619180
Review for gene: LMNB2 was set to GREEN
Added comment: Almost all reported individuals had congenital microcephaly.
Sources: Literature
Fetal anomalies v0.4478 LMNB1 Krithika Murali gene: LMNB1 was added
gene: LMNB1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNB1 were set to 32910914
Phenotypes for gene: LMNB1 were set to Microcephaly 26, primary, autosomal dominant - MIM#619179
Review for gene: LMNB1 was set to GREEN
Added comment: Monoallelic variants associated with profound microcephaly - this was noted antenatally in 5 unrelated individuals (total of 8 individuals from 5 families reported)
Sources: Literature
Fetal anomalies v0.4478 LINGO1 Krithika Murali gene: LINGO1 was added
gene: LINGO1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: LINGO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LINGO1 were set to 28837161; 31668702
Phenotypes for gene: LINGO1 were set to Mental retardation, autosomal recessive 64 - MIM#618103
Review for gene: LINGO1 was set to AMBER
Added comment: 5 individuals reported from 2 families. 4 out of the 5 individuals had microcephaly. ID, developmentatl delay, spasticity, hypertonia, feeding problems also reported features. No antenatal information or birth growth parameters provided, but it is possible that microcephaly was antenatal/congenital in onset based on other phenotypic features reported.
Sources: Literature
Fetal anomalies v0.4478 LAGE3 Krithika Murali gene: LAGE3 was added
gene: LAGE3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: LAGE3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: LAGE3 were set to 31069511; 28805828
Phenotypes for gene: LAGE3 were set to Galloway-Mowat syndrome 2, X-linked - MIM#301006
Review for gene: LAGE3 was set to GREEN
Added comment: Phenotypic features detectable antenatally include microcephaly, IUGR and brain malformations.
Sources: Literature
Fetal anomalies v0.4478 KIF21B Krithika Murali gene: KIF21B was added
gene: KIF21B was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KIF21B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF21B were set to 32415109
Phenotypes for gene: KIF21B were set to Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly
Review for gene: KIF21B was set to GREEN
Added comment: Monoallelic variants associated with a neurodevelopmental disorder. Phenotypic features include ID, corpus callosum anomalies and microcephaly. PMID 32415109 report 4 unrelated individuals, 2 had IUGR +/- oligohydramnios.
Sources: Literature
Fetal anomalies v0.4477 PSAP Seb Lunke Added comment: Comment on list classification: Onset in infancy, amber for fetal anomalies
Fetal anomalies v0.4476 PTCH1 Seb Lunke Publications for gene: PTCH1 were set to
Fetal anomalies v0.4472 PTPN11 Seb Lunke Publications for gene: PTPN11 were set to 30266093; 28425981
Fetal anomalies v0.4469 PUF60 Seb Lunke Publications for gene: PUF60 were set to
Fetal anomalies v0.4465 RERE Seb Lunke Publications for gene: RERE were set to
Fetal anomalies v0.4460 SNORD118 Zornitza Stark Publications for gene: SNORD118 were set to
Fetal anomalies v0.4459 SNORD118 Zornitza Stark changed review comment from: Many reported individuals have ID; however overall this is a progressive neurological disorder with variable onset, including in late adulthood.; to: Variable onset, including in infancy with brain abnormalities detectable by imaging.
Fetal anomalies v0.4458 RFX6 Zornitza Stark Publications for gene: RFX6 were set to
Fetal anomalies v0.4456 RIPK4 Zornitza Stark Publications for gene: RIPK4 were set to 28425981
Fetal anomalies v0.4454 RIT1 Zornitza Stark Publications for gene: RIT1 were set to 30712878; 28425981
Fetal anomalies v0.4444 ROGDI Zornitza Stark Publications for gene: ROGDI were set to
Fetal anomalies v0.4443 ROGDI Zornitza Stark changed review comment from: Kohlschutter-Tonz syndrome (KTZS) is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discolouration of the teeth. More than 10 families reported.; to: Kohlschutter-Tonz syndrome (KTZS) is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discolouration of the teeth. More than 10 families reported.

Cerebellar hypoplasia and ventriculomegaly described.
Fetal anomalies v0.4442 RPGRIP1L Zornitza Stark Publications for gene: RPGRIP1L were set to
Fetal anomalies v0.4440 RPL11 Zornitza Stark Publications for gene: RPL11 were set to
Fetal anomalies v0.4437 RPL5 Zornitza Stark Publications for gene: RPL5 were set to
Fetal anomalies v0.4434 RPS10 Zornitza Stark Publications for gene: RPS10 were set to
Fetal anomalies v0.4432 RPS17 Zornitza Stark Publications for gene: RPS17 were set to
Fetal anomalies v0.4429 RPS19 Zornitza Stark Publications for gene: RPS19 were set to
Fetal anomalies v0.4426 RPS26 Zornitza Stark Publications for gene: RPS26 were set to
Fetal anomalies v0.4423 RTTN Zornitza Stark Publications for gene: RTTN were set to
Fetal anomalies v0.4421 RYR1 Zornitza Stark Publications for gene: RYR1 were set to
Fetal anomalies v0.4415 SATB2 Zornitza Stark Publications for gene: SATB2 were set to
Fetal anomalies v0.4412 SBDS Zornitza Stark Publications for gene: SBDS were set to
Fetal anomalies v0.4410 SCARF2 Zornitza Stark Publications for gene: SCARF2 were set to
Fetal anomalies v0.4408 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Fetal anomalies v0.4404 TBC1D7 Krithika Murali gene: TBC1D7 was added
gene: TBC1D7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TBC1D7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D7 were set to 23687350; 24515783
Phenotypes for gene: TBC1D7 were set to Macrocephaly/megalencephaly syndrome, autosomal recessive - MIM#248000
Review for gene: TBC1D7 was set to AMBER
Added comment: PMID: 24515783 report 2 siblings with biallelic variants. One noted to be macrosomic at birth and parents reported macrocephaly.

PMID: 23687350 report 2 affected siblings. One was noted to be macrocephalic at birth.
Sources: Literature
Fetal anomalies v0.4404 TAOK1 Krithika Murali gene: TAOK1 was added
gene: TAOK1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TAOK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAOK1 were set to 35091509; 31230721; 33565190
Phenotypes for gene: TAOK1 were set to Developmental delay with or without intellectual impairment or behavioral abnormalities - MIM#619575
Review for gene: TAOK1 was set to GREEN
Added comment: Heterozygous TAOK1 variants associated with developmental delay

PMID 35091509 - complication of polyhydramnios noted in 2 pregnancies in unrelated families

PMID 33565190:
- 1 patient with ventriculomegaly detected 28 week USS and polyhydramnios with secondary complication of multi-suture craniosynostosis
- 1 infant with low birth weight.
- 1 individual - antenatal history includes polyhydramnios at 5 months gestation

PMID 31230721 - report one individual noted to be macrocephalic at birth with cleft palate
Sources: Literature
Fetal anomalies v0.4404 STT3A Krithika Murali gene: STT3A was added
gene: STT3A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: STT3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STT3A were set to 34653363; 23842455; 30701557; 28424003
Phenotypes for gene: STT3A were set to Congenital disorder of glycosylation, type Iw, autosomal dominant - MIM#619714; Congenital disorder of glycosylation, type Iw, autosomal recessive - MIM#615596
Review for gene: STT3A was set to GREEN
Added comment: Biallelic variants associated with an earlier onset of symptoms. PMID: 23842455 report IUGR in one infant. PMID: 28424003 - report 5 affected individuals from one family, birth growth parameters of 4/5 individuals suggestive of growth restriction/relative microcephaly.
---
ID/DD reported in all cases (at least 7 individuals from 3 unrelated families, with 2 different homozygous variants in STT3A)

PMID: 34653363 - 16 patients from 9 families with new AD mode of inheritance (both de novo and inherited). All variants were missense within/around acritical active/catalytic sites. Patients aged 3-55yo, with children noted to be "healthy" until reaching young adulthood
Clinical features include dysmorphic features, macrocephaly (6/16), mild-moderate ID/DD (10/16), short stature (8/16), skeletal abnormalities (10/16), muscle cramps (7/16).
Functional studies verifies AR disease is caused by LOF variants, whereas the AD variants cause DN proven by cotransfection in WT yeast resulting in impaired glycosylation (protein levels unchanged).
Sources: Literature
Fetal anomalies v0.4404 RHEB Krithika Murali gene: RHEB was added
gene: RHEB was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RHEB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RHEB were set to 29051493; 31337748
Phenotypes for gene: RHEB were set to Intellectual disability; Macrocephaly; Focal cortical dysplasia
Review for gene: RHEB was set to GREEN
Added comment: No new publications since last PanelApp review. Reviewed PMID: 29051493 supplementary information - three individuals with short stature and macrocephaly. Limited antenatal information provided/birth HC parameters, but one of the affected individuals was noted to have a large head circumference from 20 weeks gestation. PMID 31337748: Somatic variant in this gene found in one individual with focal cortical dysplasia.

---
3 individuals from two families with heterozygous RHEB variants. Two siblings carried the c.110 C > T (p.Pro37Leu) variant, and a sporadic individual carried the c.202 T>C (p.Ser68Pro) allele. All 3 individuals had short stature (−2 to −3 SD) and early brain overgrowth with pronounced macrocephaly during childhood (+2.5/+3 SD). They had severe to profound ID with hypotonia, as well as autism spectrum disorder. 2 of 3 individuals were reported to have epilepsy. In a zebrafish model, overexpression of RHEB produced megalencephaly, supporting a hyperactivating effect. This is supported in mice where loss of RHEB activity does not cause an overt neurological phenotype
Single individual with somatic variants in this gene and focal cortical dysplasia also reported.
Sources: Literature
Fetal anomalies v0.4403 SEPSECS Zornitza Stark Publications for gene: SEPSECS were set to 26805434; 26888482; 29464431
Fetal anomalies v0.4402 SETD5 Zornitza Stark Marked gene: SETD5 as ready
Fetal anomalies v0.4402 SETD5 Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence).
Fetal anomalies v0.4402 SETD5 Zornitza Stark Phenotypes for gene: SETD5 were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 to Intellectual disability, autosomal dominant 23 (MIM # 615761)
Fetal anomalies v0.4401 SETD5 Zornitza Stark Publications for gene: SETD5 were set to
Fetal anomalies v0.4399 SHH Zornitza Stark Publications for gene: SHH were set to
Fetal anomalies v0.4396 SHOC2 Zornitza Stark Publications for gene: SHOC2 were set to
Fetal anomalies v0.4392 PPP2R5C Krithika Murali gene: PPP2R5C was added
gene: PPP2R5C was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PPP2R5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2R5C were set to 25972378
Phenotypes for gene: PPP2R5C were set to macrocephaly; overgrowth
Review for gene: PPP2R5C was set to AMBER
Added comment: x1 case only in the literature with relative macrocephaly noted at birth.

PMID: 25972378 - Loveday et al 2015 undertook trio exome sequencing in children with an overgrowth syndrome phenotype with unaffected parents. One individual with a de novo PPP2R5C c.468_470delAAC p.Thr157del variant identified. The proband had moderate ID, was born at 37 weeks gestation weighing 3100g (0.8SD) with a head circumference of 36cm (2.4SD).
Sources: Literature
Fetal anomalies v0.4392 SIL1 Zornitza Stark Publications for gene: SIL1 were set to
Fetal anomalies v0.4388 SIX3 Zornitza Stark Publications for gene: SIX3 were set to
Fetal anomalies v0.4385 SLC10A7 Zornitza Stark Publications for gene: SLC10A7 were set to 29878199; 30082715
Fetal anomalies v0.4383 SLC13A5 Zornitza Stark Phenotypes for gene: SLC13A5 were changed from EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; MONDO:0014392
Fetal anomalies v0.4382 SLC13A5 Zornitza Stark Publications for gene: SLC13A5 were set to
Fetal anomalies v0.4380 SLC16A2 Zornitza Stark Publications for gene: SLC16A2 were set to
Fetal anomalies v0.4378 SLC16A2 Zornitza Stark edited their review of gene: SLC16A2: Added comment: Clinical presentation is typically post-natal, including microcephaly of post-natal onset.; Changed rating: AMBER
Fetal anomalies v0.4376 SLC35A2 Zornitza Stark Publications for gene: SLC35A2 were set to
Fetal anomalies v0.4374 SLC35C1 Zornitza Stark Publications for gene: SLC35C1 were set to
Fetal anomalies v0.4371 SLC35D1 Zornitza Stark Publications for gene: SLC35D1 were set to
Fetal anomalies v0.4369 SLC39A8 Zornitza Stark Publications for gene: SLC39A8 were set to
Fetal anomalies v0.4366 SMARCA2 Zornitza Stark Publications for gene: SMARCA2 were set to
Fetal anomalies v0.4362 SMARCA4 Zornitza Stark Publications for gene: SMARCA4 were set to
Fetal anomalies v0.4354 SMO Zornitza Stark Publications for gene: SMO were set to
Fetal anomalies v0.4350 SMOC1 Zornitza Stark Publications for gene: SMOC1 were set to
Fetal anomalies v0.4348 SMPD1 Zornitza Stark Publications for gene: SMPD1 were set to
Fetal anomalies v0.4347 ZNF668 Zornitza Stark Publications for gene: ZNF668 were set to PMID: 34313816, 26633546
Fetal anomalies v0.4345 YRDC Zornitza Stark Publications for gene: YRDC were set to PMID: 31481669, 34545459
Fetal anomalies v0.4324 EXOC7 Zornitza Stark Publications for gene: EXOC7 were set to
Fetal anomalies v0.4317 TUBGCP2 Chirag Patel gene: TUBGCP2 was added
gene: TUBGCP2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to PMID: 31630790
Phenotypes for gene: TUBGCP2 were set to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM # 618737
Review for gene: TUBGCP2 was set to GREEN
Added comment: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures (PAMDDFS) is an autosomal recessive neurologic disorder characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development. Brain imaging shows variable malformation of cortical development on the lissencephaly spectrum, mainly pachygyria and thin corpus callosum.

4 unrelated patients with homozygous or compound heterozygous mutations in the TUBGCP2 gene, found by WES and segregated with the disorder in all families. Functional studies of the variants were not performed, but analysis of patient fibroblasts derived from the patient with a splice site mutation demonstrated the production of several abnormal transcripts that were predicted to result in a loss of function.
Sources: Expert list
Fetal anomalies v0.4311 VPS4A Chirag Patel gene: VPS4A was added
gene: VPS4A was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to PMID: 33186543; 33186545
Phenotypes for gene: VPS4A were set to CIMDAG syndrome MIM# 619273
Review for gene: VPS4A was set to GREEN
Added comment: CIMDAG syndrome is a multisystemic disorder characterized by severely impaired psychomotor development and hematologic abnormalities apparent from early infancy. Affected individuals show poor overall growth with microcephaly, impaired intellectual development, poor or absent speech, poor eye contact, and motor problems, such as inability to walk, hypotonia, and spasticity. Brain imaging typically shows cerebral and cerebellar atrophy, thin corpus callosum, and delayed myelination. The associated hematologic abnormalities are variable, but are mostly consistent with congenital dyserythropoietic anemia. Eight unrelated patients with de novo heterozygous missense mutations in the VPS4A gene.
Sources: Expert list
Fetal anomalies v0.4305 VPS50 Chirag Patel gene: VPS50 was added
gene: VPS50 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: VPS50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS50 were set to PMID: 34037727
Phenotypes for gene: VPS50 were set to Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685
Review for gene: VPS50 was set to AMBER
Added comment: Schneeberger et al (2021 - PMID: 34037727) describe the phenotype of 2 unrelated individuals with biallelic VPS50 variants. Common features included transient neonatal cholestasis, failure to thrive, severe DD with failure to achieve milestones (last examination at 2y and 2y2m respectively), postnatal microcephaly, seizures (onset at 6m and 25m) and irritability. There was corpus callosum hypoplasia on brain imaging. Both individuals were homozygous for variants private to each family (no/not known consanguinity applying to each case). The first individual was homozygous for a splicing variant (NM_017667.4:c.1978-1G>T) and had a similarly unaffected sister deceased with no available DNA for testing. The other individual was homozygous for an in-frame deletion (c.1823_1825delCAA / p.(Thr608del)). VPS50 encodes a critical component of the endosome-associated recycling protein (EARP) complex, which functions in recycling endocytic vesicles back to the plasma membrane [OMIM based on Schindler et al]. The complex contains VPS50, VPS51, VPS52, VPS53, the three latter also being components of GARP (Golgi-associated-retrograde protein) complex. GARP contains VPS54 instead of VPS50 and is required for trafficking of proteins to the trans-golgi network. Thus VPS50 (also named syndetin) and VPS54 function in the EARP and GARP complexes, to define directional movement of their endocytic vesicles [OMIM based on Schindler et al]. The VPS50 subunit is required for recycling of the transferrin receptor. As discussed by Schneeberger et al (refs provided in text): - VPS50 has a high expression in mouse and human brain as well as throughout mouse brain development. - Mice deficient for Vps50 have not been reported. vps50 knockdown in zebrafish results in severe developmental defects of the body axis. Knockout mice for other proteins of the EARP/GARP complex (e.g. Vps52, 53 and 54) display embryonic lethality. Studies performed by Schneeberger et al included: - Transcript analysis for the 1st variant demonstrated skipping of ex21 (in patient derived fabriblasts) leading to an in frame deletion of 81 bp (r.1978_2058del) with predicted loss of 27 residues (p.Leu660_Leu686del). - Similar VPS50 mRNA levels but significant reduction of protein levels (~5% and ~8% of controls) were observed in fibroblasts from patients 1 and 2. Additionally, significant reductions in the amounts of VPS52 and VPS53 protein levels were observed despite mRNA levels similar to controls. Overall, this suggested drastic reduction of functional EARP complex levels. - Lysosomes appeared to have similar morphology, cellular distribution and likely unaffected function in patient fibroblasts. - Transferrin receptor recycling was shown to be delayed in patient fibroblasts suggestive of compromise of endocytic-recycling function. As the authors comment, the phenotype of both individuals with biallelic VPS50 variants overlaps with the corresponding phenotype reported in 15 subjects with biallelic VPS53 or VPS51 mutations notably, severe DD/ID, microcephaly and early onset epilepsy, CC anomalies. Overall, for this group, they propose the term "GARP and/or EARP deficiency disorders". There is no VPS50-associated phenotype in OMIM or G2P. SysID includes VPS50 among the ID candidate genes.
Sources: Expert list
Fetal anomalies v0.4303 VPS51 Chirag Patel gene: VPS51 was added
gene: VPS51 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS51 were set to PMID: 30624672; 31207318
Phenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM# 618606
Review for gene: VPS51 was set to AMBER
Added comment: Pontocerebellar hypoplasia type 13 (PCH13) is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment. Two families reported with bi-allelic variants in this gene.
Sources: Expert list
Fetal anomalies v0.4301 WDR37 Chirag Patel gene: WDR37 was added
gene: WDR37 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDR37 were set to PMID: 31327508, 31327510
Phenotypes for gene: WDR37 were set to Neurooculocardiogenitourinary syndrome MIM#618652
Review for gene: WDR37 was set to GREEN
Added comment: Neurooculocardiogenitourinary syndrome (NOCGUS) is a multisystem disorder characterized by poor growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems. Lethality before 2 years of age has been observed. Nine unrelated patients reported with de novo missense mutations in the WDR37 gene.
Sources: Expert list
Fetal anomalies v0.4299 WDR4 Chirag Patel gene: WDR4 was added
gene: WDR4 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WDR4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR4 were set to PubMed: 26416026; 28617965
Phenotypes for gene: WDR4 were set to Microcephaly, growth deficiency, seizures, and brain malformations, OMIM # 618346
Review for gene: WDR4 was set to GREEN
Added comment: Microcephaly, growth deficiency, seizures, and brain malformations (MIGSB) is a severe autosomal recessive disorder characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development. Additional features include optic atrophy, early-onset seizures, dysmorphic facial features, and brain malformations, such as partial agenesis of the corpus callosum and simplified gyration.

Biallelic variants in the WDR4 gene reported in 4 patients from 3 unrelated families. Studies of patient cells in one family and modeling of the corresponding mutation in yeast showed that the mutation caused a significant reduction in m(7)G46 methylation of specific tRNAs species, particularly at higher temperatures. This was associated with a growth defect in yeast, thus offering a potential mechanism for the growth defects observed in patients with the mutation. The findings suggested that abnormal tRNA modification is a major contributor to disease pathogenesis.
Sources: Literature
Fetal anomalies v0.4297 YIPF5 Chirag Patel gene: YIPF5 was added
gene: YIPF5 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIPF5 were set to PMID: 33164986
Phenotypes for gene: YIPF5 were set to Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Review for gene: YIPF5 was set to GREEN
Added comment: 6 patients from 5 consanguineous families who had microcephaly, epilepsy, and diabetes syndrome (MEDS). All had severe microcephaly (standard deviation of -6.2); epilepsy diagnosed at ages ranging from 1 to 7 months; and neonatal/early-onset diabetes. All patients had low birth weight consistent with reduced insulin secretion in utero.
Sources: Expert list
Fetal anomalies v0.4295 YIF1B Chirag Patel gene: YIF1B was added
gene: YIF1B was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIF1B were set to PMID: 32006098; 26077767
Phenotypes for gene: YIF1B were set to Kaya-Barakat-Masson syndrome, MIM# 619125
Review for gene: YIF1B was set to GREEN
Added comment: Kaya-Barakat-Masson syndrome (KABAMAS) is a severe autosomal recessive neurodevelopmental disorder characterized by profoundly impaired global development, peripheral spasticity, dystonia, impaired intellectual development with absent speech, poor eye contact, and feeding difficulties, resulting in poor overall growth, sometimes with microcephaly. Additional more variable features include early-onset seizures, ocular anomalies, foot deformities, and nonspecific brain imaging findings, such as thin corpus callosum and cerebral, cerebellar, or pontine atrophy. Some patients may die in infancy or early childhood.

6 individuals (from 5 families) with biallelic YIF1B truncating variants reported. Presenting features: hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID as well as features suggestive of a motor disorder (dystonia/spasticity/dyskinesia). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3. Affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*. Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). Functional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichement in in genes important for nervous system development and function.
Sources: Expert list
Fetal anomalies v0.4294 NFIB Krithika Murali gene: NFIB was added
gene: NFIB was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFIB were set to 30388402; 33130023; 32902921
Phenotypes for gene: NFIB were set to Macrocephaly, acquired, with impaired intellectual development - MIM#618286
Review for gene: NFIB was set to GREEN
Added comment: NFIB haploinsufficiency associated with syndromic ID. Macrocephaly and corpus callosum anomalies are recurrent phenotypic features. OMIM notes macrocephaly postnatal in onset, but review of published cases shows some instances of relative macrocephaly at birth. Also corpus callosal anomalies - agenesis and dysgenesis, noted on MRI-B in childhood but possibility of detecting this antenatally in future cases. 2 unrelated individuals reported with minor cardiac anomalies also.

---

OMIM notes macrocephaly postnatal in onset. PMID: 30388402 - 18 individuals reported, of whom 11 had deletions of this gene and the rest had SNVs. Relative macrocephaly noted based on growth parameters in 4 individuals (e.g. x1 male with BW 22nd centile and HC 99th centile in an apparently uncomplicated pregnancy) - macrocephaly became more pronounced with age. In addition, 2 individuals had congenital cardiac anomalies (x1 small VSD and x1 narrow pulmonary artery) and 2 individuals had complete agenesis of the corpus callosum.

33130023 - Report one affected individual. Birth weight was 4.13 kg (Z-score 1.50, 93rd percentile), length was 52 cm (Z-score 1.12, 87th percentile) and his head circumference was 37 cm (Z-score 2.00, 98th percentile). MRI-B at 12 months confirmed agenesis of the corpus callosum

32902921 - report one patient with normal antenatal history, no birth HC provided, macrocephaly noted at 7 months. MRI-B showed mild dysgensis of the corpus callosum age 5. 2nd unrelated patient's birth weight 3.43 kg(57th centile,Zscore 0.17), length 52.8 cm (94th centile, Zscore1.54), and OFC 37.5 cm (99th centile,Zscore 2.39). MRI-B age 5 showed dysgenesis of the corpus callosum.
Sources: Literature
Fetal anomalies v0.4293 YRDC Chirag Patel gene: YRDC was added
gene: YRDC was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: YRDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YRDC were set to PMID: 31481669, 34545459
Phenotypes for gene: YRDC were set to Galloway-Mowat syndrome 10, OMIM # 619609
Review for gene: YRDC was set to GREEN
Added comment: Galloway-Mowat syndrome-10 (GAMOS10) is a severe autosomal recessive disorder characterized by onset of symptoms soon after birth. Affected individuals have progressive renal dysfunction with proteinuria associated with diffuse mesangial sclerosis (DMS) on renal biopsy. Other features include global developmental delay, microcephaly, hypothyroidism, arachnodactyly, and dysmorphic facial features. Some patients may have seizures or abnormalities on brain imaging. All reported patients have died in infancy.

4 individuals from 3 unrelated families with typical features of Galloway-Mowat syndrome including proteinuria, microcephaly, developmental delay and brain malformations. Supportive functional data.
Sources: Expert list
Fetal anomalies v0.4291 ZNF526 Chirag Patel gene: ZNF526 was added
gene: ZNF526 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF526 were set to PMID: 33397746, 21937992, 25558065,
Phenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia
Review for gene: ZNF526 was set to GREEN
Added comment: - PMID: 21937992 (2011) - Two unrelated families (with 4 affected individuals in each) with non-syndromic ID (mild or moderate, respectively) identified harbouring different biallelic missense variants in the ZNF526 gene.

- PMID: 25558065 (2015) - One family with ID, Noonan-like facies, pulmonary stenosis and a homozygous missense variant in this gene. No further details provided.

- PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, severe pre/postnatal microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum
Sources: Expert list
Fetal anomalies v0.4290 PIDD1 Daniel Flanagan gene: PIDD1 was added
gene: PIDD1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIDD1 were set to 28397838; 29302074; 33414379; 34163010
Phenotypes for gene: PIDD1 were set to Global developmental delay; Intellectual disability; Seizures; Autism; Behavioral abnormality; Psychosis; Pachygyria; Lissencephaly; Abnormality of the corpus callosum
Review for gene: PIDD1 was set to AMBER
Added comment: Doesn't appear to have an antenatal onset. Clinical findings in supplementary table for PMID: 34163010 doesn't mention any prenatal findings. For family M278, two affected siblings were "born at term after uneventful pregnancies, neonatal periods and normal development." Mean age of cohort was 13.2 years.

Biallelic PIDD1 pathogenic variants have been reported in 26 individuals (11 families) with DD (all), variable degrees of ID (mild to severe), behavioral (eg. aggression/self-mutilation in several, ADHD) and/or psychiatric abnormalities (ASD, psychosis in 5 belonging to 3 families), well-controlled epilepsy is some (9 subjects from 6 families) and MRI abnormalities notably abnormal gyration pattern (pachygyria with predominant anterior gradient) as well as corpus callosum anomalies (commonly thinning) in several. Dysmorphic features have been reported in almost all, although there has been no specific feature suggested.

The first reports on the phenotype associated with biallelic PIDD1 mutations were made by Harripaul et al (2018 - PMID: 28397838) and Hu et al (2019 - PMID: 29302074) [both studies investigating large cohorts of individuals with ID from consanguineous families].

Sheikh et al (2021 - PMID: 33414379) provided details on the phenotype of 15 individuals from 5 families including those from the previous 2 reports and studied provided evidence on the role of PIDD1 and the effect of variants.

Zaki et al (2021 - PMID: 34163010) reported 11 additional individuals from 6 consanguineous families, summarize the features of all subjects published in the literature and review the neuroradiological features of the disorder.

PIDD1 encodes p53-induced death domain protein 1. The protein is part of the PIDDosome, a multiprotein complex also composed of the bipartite linker protein CRADD (also known as RAIDD) and the proform of caspase-2 and induces apoptosis in response to DNA damage.

There are 5 potential PIDD1 mRNA transcript variants with NM_145886.4 corresponding to the longest. Similar to the protein encoded by CRADD, PIDD1 contains a death domain (DD - aa 774-893). Constitutive post-translational processing gives PIDD1-N, PIDD1-C the latter further processed into PIDD1-CC (by auto-cleavage). Serine residues at pos. 446 and 588 are involved in this autoprocessing generating PIDD1-C (aa 446-910) and PIDD1-CC (aa 774-893). The latter is needed for caspase-2 activation.

Most (if not all) individuals belonged to consanguineous families of different origins and harbored pLoF or missense variants.

Variants reported so far include : c.2587C>T; p.Gln863* / c.1909C>T ; p.Arg637* / c.2443C>T / p.Arg815Trp / c.2275-1G>A which upon trap assay was shown to lead to skipping of ex15 with direct splicing form exon14 to the terminal exon 16 (resulting to p.Arg759Glyfs*1 with exlcusion of the entire DD) / c.2584C>T; p.Arg862Trp / c.1340G>A; p.Trp447* / c.2116_2120del; p.Val706His*, c.1564_1565del; p.Gly602fs*26

Evidence so far provided includes:
- Biallelic CRADD variants cause a NDD disorder and a highly similar gyration pattern.
- Confirmation of splicing effect (eg. for c.2275-1G>A premature stop in position 760) or poor expression (NM_145886.3:c.2587C>T; p.Gln863*). Arg815Trp did not affect autoprocessing or protein stability.
- Abnormal localization pattern, loss of interaction with CRADD and failure to activate caspase-2 (MDM2 cleavage assay) [p.Gln863* and Arg815Trp]
- Available expression data from GTEx (PIDD1 having broad expression in multiple tissues, but higher in brain cerebellum) as well as BrainSpan and PsychEncode studies suggesting high coexpression of PIDD1, CRADD and CASP2 in many regions in the developing human brain.
- Variants in other genes encoding proteins interacting with PIDD1 (MADD, FADD, DNAJ, etc) are associated with NDD.

Pidd-1 ko mice (ex3-15 removal) lack however CNS-related phenotypes. These show decreased anxiety but no motor anomalies. This has also been the case with Cradd-/- mice displaying no significant CNS phenotypes without lamination defects.
Sources: Expert list
Fetal anomalies v0.4289 ZNF668 Chirag Patel gene: ZNF668 was added
gene: ZNF668 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ZNF668 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF668 were set to PMID: 34313816, 26633546
Phenotypes for gene: ZNF668 were set to DNA damage repair defect; microcephaly; growth deficiency; severe global developmental delay; brain malformation; facial dysmorphism
Review for gene: ZNF668 was set to AMBER
Added comment: 2 consanguineous families reported with different biallelic truncating (not NMD) variants in ZNF668. Phenotypes included microcephaly, growth deficiency, severe global developmental delay, brain malformation, and distinct facial dysmorphism. Immunofluorescence indicated ZNF668 deficiency. An increased DNA damage phenotype was demonstrated in patient fibroblasts.
Sources: Expert list
Fetal anomalies v0.4287 ZNHIT3 Chirag Patel gene: ZNHIT3 was added
gene: ZNHIT3 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNHIT3 were set to PMID: 28335020; 28335020; 31048081
Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, MIM# 260565
Review for gene: ZNHIT3 was set to GREEN
Added comment: PEHO is a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Affected individuals present in early infancy with hypotonia, profoundly delayed psychomotor development, optic atrophy, progressive atrophy of the cerebellum and brainstem, and dysmyelination. Most patients also develop infantile seizures that are often associated with hypsarrhythmia on EEG, and many have peripheral oedema. More than 20 affected individuals reported of Finnish origin, p.Ser31Leu is a founder variant. One compound het reported and supportive animal model.
Sources: Expert list
Fetal anomalies v0.4275 HEXB Krithika Murali gene: HEXB was added
gene: HEXB was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEXB were set to 23046579; 24613245; 33407268; 27697305; 11869411; 33363784
Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms-MIM#268800
Review for gene: HEXB was set to RED
Added comment: Biallelic variants associated with Sandhoff disease which includes a severe, infantile onset form. Authors of reported cases note normal antenatal and immediate postnatal course with onset of phenotypic features generally from 2 months of age onwards. Note subset with cardiomyopathy and secondary valvular incompetence, not congenital heart defects.
Sources: Literature
Fetal anomalies v0.4273 GTPBP2 Ain Roesley gene: GTPBP2 was added
gene: GTPBP2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP2 were set to 26675814; 29449720; 30790272
Phenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome MIM#617988
Review for gene: GTPBP2 was set to GREEN
gene: GTPBP2 was marked as current diagnostic
Added comment: Nine individuals from six unrelated families

microcephaly noted but measurements at birth not provided.
1x weight 5th percentile and OFC 25-50 percentile

scoliosis consistently reported
Other features include clenched hands, talipes, abnormal brain imaging, pectus excavatum
Sources: Literature
Fetal anomalies v0.4273 MCF2 Daniel Flanagan gene: MCF2 was added
gene: MCF2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MCF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MCF2 were set to 31846234
Phenotypes for gene: MCF2 were set to Perisylvian polymicrogyria
Review for gene: MCF2 was set to RED
Added comment: Single individual reported, inherited missense variant from unaffected mother, some support from mouse model.
Sources: Expert list
Fetal anomalies v0.4273 MAN2C1 Daniel Flanagan gene: MAN2C1 was added
gene: MAN2C1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MAN2C1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2C1 were set to 35045343
Phenotypes for gene: MAN2C1 were set to MAN2C1-related neurodevelopmental disorder MONDO:0700092
Review for gene: MAN2C1 was set to GREEN
Added comment: Six individuals from four different families, including two fetuses, exhibiting dysmorphic facial features, congenital anomalies such as tongue hamartoma, variable degrees of intellectual disability, and brain anomalies including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis. Variants include PTC and missense.
*3 unrelated individuals presented polymicrogyria
Sources: Expert list
Fetal anomalies v0.4273 INTS8 Daniel Flanagan gene: INTS8 was added
gene: INTS8 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: INTS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS8 were set to 28542170
Phenotypes for gene: INTS8 were set to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity (MIM#618572)
Review for gene: INTS8 was set to RED
Added comment: Single family with three affected sibs with compound het INTS8 variants, Microcephaly, Cerebellar hypoplasia, Nodular heterotopia. Some functional evidence.
Sources: Expert list
Fetal anomalies v0.4273 GRM7 Ain Roesley gene: GRM7 was added
gene: GRM7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRM7 were set to 32286009; 32248644
Phenotypes for gene: GRM7 were set to Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities MIM#618922
Review for gene: GRM7 was set to GREEN
gene: GRM7 was marked as current diagnostic
Added comment: progressive/post-natal microcephaly consistently reported

6 families with 11 affecteds
5 of the pregnancies were complicated by polyhydramnios/decreased fetal movements
Sources: Literature
Fetal anomalies v0.4273 ERMARD Daniel Flanagan gene: ERMARD was added
gene: ERMARD was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ERMARD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ERMARD were set to 27087860; 24056535
Phenotypes for gene: ERMARD were set to Periventricular nodular heterotopia 6 (MIM#615544)
Review for gene: ERMARD was set to RED
Added comment: Single individual described with heterozygous ERMARD missense and periventricular nodular heterotopia, developmental delay and epilepsy.

PMID: 27087860. Fetus was diagnosed by prenatal ultrasound with symmetric bilateral ventriculomegaly. The fetus carried a 0.78-Mb deletion of chromosomal region 6q27 (ERMARD included).
Sources: Expert list
Fetal anomalies v0.4273 GPT2 Ain Roesley gene: GPT2 was added
gene: GPT2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPT2 were set to 25758935; 27601654; 28130718; 29226631; 29882329; 31471722
Phenotypes for gene: GPT2 were set to Neurodevelopmental disorder with microcephaly and spastic paraplegia MIM#616281
Review for gene: GPT2 was set to RED
gene: GPT2 was marked as current diagnostic
Added comment: post-natal microcephaly

of note;
1x family where fisting was observed in a 4 yr old
1x adducted thumbs and scoliosis
a handful had reduced white matter volume and/or thin corpus callosum
Sources: Literature
Fetal anomalies v0.4273 GON7 Ain Roesley gene: GON7 was added
gene: GON7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GON7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GON7 were set to 31481669
Phenotypes for gene: GON7 were set to Galloway-Mowat syndrome 9, MIM# 619603
Review for gene: GON7 was set to GREEN
gene: GON7 was marked as current diagnostic
Added comment: 11 individuals from 5 families. Four of the families had the same homozygous variant, shared haplotype suggestive of founder effect.

post-natal microcephaly and brain malformations such as cerebellar atrophy, atrophic/thin corpus callosum. Cranial imaging done as young as 6 months.

Maybe detectable antenatally
Sources: Literature
Fetal anomalies v0.4273 EOMES Daniel Flanagan gene: EOMES was added
gene: EOMES was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: EOMES was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EOMES were set to 17353897
Phenotypes for gene: EOMES were set to microcephaly; polymicrogyria; corpus callosum agenesis
Review for gene: EOMES was set to RED
Added comment: Single family with homozygous balanced translocation between chromosomes 3p and 10q affecting EOMES.
Sources: Expert list
Fetal anomalies v0.4273 GOLGA2 Ain Roesley gene: GOLGA2 was added
gene: GOLGA2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GOLGA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOLGA2 were set to 34424553; 26742501; 30237576
Review for gene: GOLGA2 was set to GREEN
gene: GOLGA2 was marked as current diagnostic
Added comment: 3x unrelated families

1x noted with a smaller head at birth head circumference 32.5 cm (7th percentile). weight 3.22 kg (37th percentile), length 49.5 cm (53rd percentile)

Nonspecific cerebral volume loss / cortical atrophy with delayed myelination and thin corpus callosum reported in all post-natally. Maybe detectable antenatally
Sources: Literature
Fetal anomalies v0.4273 ENO1 Daniel Flanagan gene: ENO1 was added
gene: ENO1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ENO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ENO1 were set to 32488097
Phenotypes for gene: ENO1 were set to Polymicrogyria; microcephaly
Review for gene: ENO1 was set to RED
Added comment: ENO1 identified as a polymicrogyria candidate gene from the smallest case of 1p36 duplication reported to date, in a 35yo F (onset at 8mo) presenting intellectual disability, microcephaly, epilepsy and perisylvian polymicrogyria. The duplication only encompassed 2 genes, ENO1 and RERE, and gene expression analysis performed using the patient cells revealed reduced expression, mimicking haploinsufficiency. Eno1 inactivation in rats was shown to cause a brain development defect. According to OMIM, ENO1 is deleted in glioblastoma, which is tolerated by the expression of ENO2.
Sources: Expert list
Fetal anomalies v0.4273 CEP85L Daniel Flanagan gene: CEP85L was added
gene: CEP85L was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CEP85L were set to 32097630
Phenotypes for gene: CEP85L were set to Lissencephaly 10, posterior predominant (MIM618873)
Review for gene: CEP85L was set to RED
Added comment: Thirteen individuals reported with mono allelic variants in this gene, inherited in two of the families. Mouse model had neuronal migration defects. Earliest symptom onset 5 months, most develop seizures after several years.
Sources: Expert list
Fetal anomalies v0.4273 HEXA Krithika Murali gene: HEXA was added
gene: HEXA was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to Tay-Sachs disease - MIM#272800
Review for gene: HEXA was set to RED
Added comment: Associated features not reported prenatally or at birth.
Sources: Literature
Fetal anomalies v0.4273 FOXR1 Ain Roesley gene: FOXR1 was added
gene: FOXR1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FOXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXR1 were set to 34723967
Phenotypes for gene: FOXR1 were set to Postnatal microcephaly, progressive brain atrophy and global developmental delay
Review for gene: FOXR1 was set to AMBER
gene: FOXR1 was marked as current diagnostic
Added comment: 1 individual with functional studies done for the specific variant

post-natal microcephaly with progressive brain atrophy from 1 yr onwards
Sources: Literature
Fetal anomalies v0.4273 HERC1 Krithika Murali gene: HERC1 was added
gene: HERC1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HERC1 were set to 28323226; 27108999; 26153217; 26138117
Phenotypes for gene: HERC1 were set to Macrocephaly, dysmorphic facies, and psychomotor retardation - MIM#617011
Review for gene: HERC1 was set to GREEN
Added comment: Multiple individuals reported with macrosomia and macrocephaly detected at birth.
Sources: Literature
Fetal anomalies v0.4273 FDXR Ain Roesley gene: FDXR was added
gene: FDXR was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDXR were set to 30250212; 28965846
Phenotypes for gene: FDXR were set to Auditory neuropathy and optic atrophy, MIM# 617717
Review for gene: FDXR was set to RED
gene: FDXR was marked as current diagnostic
Added comment: Bi-allelic variants in FDXR cause an autosomal recessive neurologic disorder characterised by onset of visual and hearing impairment in the first or second decades. Two individuals described with a more severe phenotype, including one with microcephaly.
Sources: Literature
Fetal anomalies v0.4273 CDK5 Daniel Flanagan gene: CDK5 was added
gene: CDK5 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CDK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK5 were set to 25560765
Phenotypes for gene: CDK5 were set to Lissencephaly 7 with cerebellar hypoplasia (MIM#616342)
Review for gene: CDK5 was set to RED
Added comment: Single consanguineous family with multiple affected individuals reported, lissencephaly prominent. Head circumference at the low-normal range (5th–25th percentile).
Sources: Literature
Fetal anomalies v0.4273 EXOC7 Ain Roesley gene: EXOC7 was added
gene: EXOC7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: EXOC7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOC7 were set to Neurodevelopmental disorder with seizures and brain atrophy MIM#619072
Review for gene: EXOC7 was set to GREEN
gene: EXOC7 was marked as current diagnostic
Added comment: 4 families with 8 affected individuals with brain atrophy, seizures, and developmental delay, and in more severe cases microcephaly and infantile death. Four novel homozygous or comp.heterozygous variants found in EXOC7, which segregated with disease in the families.
Sources: Literature
Fetal anomalies v0.4273 DYNC1I2 Ain Roesley gene: DYNC1I2 was added
gene: DYNC1I2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC1I2 were set to 31079899
Phenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492
Review for gene: DYNC1I2 was set to GREEN
gene: DYNC1I2 was marked as current diagnostic
Added comment: 5 affecteds from 3 families

1x microcephaly at birth and head ultrasound at 2 months detected absent corpus callosum. Furthermore, abrain MRI revealed the absence of the rostrum and genu ofthe corpus callosum and partial absence of the splenium,as well as absence of the septum pellucidum and megacisterna magna.

1x microcephaly at birth (-2 SD). Brain MRI at 3 months of age re-vealed a hypoplastic corpus callosum, prominent ventri-cles, reduced white matter volume, and simplified gyralpattern
Sources: Literature
Fetal anomalies v0.4273 FIBP Krithika Murali gene: FIBP was added
gene: FIBP was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FIBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FIBP were set to 27183861; 26660953
Phenotypes for gene: FIBP were set to Thauvin-Robinet-Faivre syndrome - MIM#617107
Review for gene: FIBP was set to AMBER
Added comment: Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor.

2 unrelated families reported.

27183861 - report one family with 3 affected children. Prenatally relevant phenotypic features include:
- congenital heart disease in one child
- preterm delivery and bilateral talipes equinovarus 2nd child
- cystic kidney disease, nephromegaly and polyhydramnios 3rd child

26660953 - report one child with ventricular septal defect, mitral valve prolapse, renal malrotation with left bifid ureter, macrocephaly and macrosomia noted at birth.
Sources: Literature
Fetal anomalies v0.4273 B3GNT2 Daniel Flanagan gene: B3GNT2 was added
gene: B3GNT2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: B3GNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GNT2 were set to 23359570; 23877401
Phenotypes for gene: B3GNT2 were set to Walker-Warburg syndrome
Review for gene: B3GNT2 was set to AMBER
Added comment: Only 2 families reported

PMID: 23877401. Homozygous frameshift in B3GNT1 identified in a proband born with occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis.

PMID: 23359570. Family with two homozygous B3GNT1 missense in affected. 4 pregnancies with abnormalities identified by ultrasound, including: hydrocephalus with the lateral ventricles, severe cerebral ventriculomegaly, cystic dysplastic kidney
Sources: Literature
Fetal anomalies v0.4273 CTNNA2 Ain Roesley gene: CTNNA2 was added
gene: CTNNA2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNA2 were set to 30013181
Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174
Review for gene: CTNNA2 was set to GREEN
gene: CTNNA2 was marked as current diagnostic
Added comment: acquired microcephaly. Pachygyria is also a feature, which can be detectable in a prenatal MRI, though none of the reports thus far were diagnosed antenatally

3 families with 7 affecteds
Sources: Literature
Fetal anomalies v0.4273 DICER1 Krithika Murali gene: DICER1 was added
gene: DICER1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DICER1 were set to 27960159; 29343557; 26227654; 33208384; 35114704; 31232238; 24676357
Phenotypes for gene: DICER1 were set to GLOW syndrome, somatic mosaic - MIM#618272; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors - MIM#138800; Pleuropulmonary blastoma - MIM#601200
Review for gene: DICER1 was set to GREEN
Added comment: Heterozygous pathogenic germline DICER1 variants are associated with pleuropulmonary blastoma, multinodular goiter, embryonal rhabdomyosarcoma and other tumour types, while mosaic somatic missense DICER1 variants in the RNase IIIb domain are linked to GLOW syndrome (global developmental delay, lung cysts, overgrowth, and Wilms’ tumor) syndrome. While the DICER1 syndrome is classically caused by frameshift, nonsense or other mutations that ablate DICER1 function in a true heterozygous state, GLOW-syndrome mutations occur at specific residues within the RNase IIIb domain that only affect the function of this domain.

Both syndromes have been reported to have features that can be detected prenatally.

PMID 33208384 - report a patient with heterozygous germline DICER1 variant. The patient was born at gestational week 39 after a difficult delivery due to macrocephaly. Clinical findings at birth included two blood vessels in the umbilical cord, undescended testis, inguinal hernia, postaxial polydactyly, ear pits and rocker bottom feet.

PMID: 34331184 - report 4 unrelated families with germline DICER1 variants. In family 1 - one child was born with Pierre Robin sequence, shortening of the left arm and leg and bilateral
hip dysplasia. In Family 2 a child had macrosomia and macrocephaly at birth. Family 4 - born at 33 weeks, dysmorphic facies including hypertelorism and macroglossia.

PMID 24676357 - report 2 unrelated children with GLOW syndrome. Patient 1 was noted to have enlarged kidneys on 24 week ultrasound. At birth was found to have renal and pulmonary cysts. Patient 2 - macrocephaly was noted at birth.

DICER1 implicated in ~60% of PPB - reports of PPB detecteed antenatally, although no reports in the context of confirmed DICER1 syndrome.
Sources: Literature
Fetal anomalies v0.4272 COLGALT1 Zornitza Stark Publications for gene: COLGALT1 were set to
Fetal anomalies v0.4266 COPB2 Ain Roesley gene: COPB2 was added
gene: COPB2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: COPB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COPB2 were set to 29036432; 34450031
Phenotypes for gene: COPB2 were set to Microcephaly 19, primary, autosomal recessive, MIM# 617800
Review for gene: COPB2 was set to RED
gene: COPB2 was marked as current diagnostic
Added comment: IUGR or small at birth (including microcephaly) not noted for any of the probands. Fractures and osteopenia were not detected antenatally.
Sources: Literature
Fetal anomalies v0.4266 ARF1 Daniel Flanagan gene: ARF1 was added
gene: ARF1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARF1 were set to 28868155; 34353862
Phenotypes for gene: ARF1 were set to Periventricular nodular heterotopia 8 (MIM#618185)
Review for gene: ARF1 was set to RED
Added comment: Three unrelated individuals reported with de novo missense in this gene. PMID: 34353862: Additional report of affected parent and child.

1 patient had microcephaly in teens but normal head circumference at first examination.
Sources: Literature
Fetal anomalies v0.4266 ATXN2L Krithika Murali gene: ATXN2L was added
gene: ATXN2L was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ATXN2L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATXN2L were set to 33283965; 33057194
Phenotypes for gene: ATXN2L were set to macrocephaly; intellectual disability
Review for gene: ATXN2L was set to AMBER
Added comment: Combined data from three large exome groups identified several de novo variants, including frameshift and missense, in ATXN2L in patients with developmental delay (Kaplanis et al., 2020). pLI=1.0

33283965 - Single case report of a novel de novo missense variant in a child with macrocephaly and developmental delay. No functional work. Macrocephaly was detected prenatally. This together with breech presentation resulted in elective C-section at 36 weeks.
Sources: Literature
Fetal anomalies v0.4266 COPB1 Ain Roesley gene: COPB1 was added
gene: COPB1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COPB1 were set to Baralle-Macken syndrome, MIM# 619255; Severe intellectual disability; variable microcephaly; cataracts
Review for gene: COPB1 was set to RED
gene: COPB1 was marked as current diagnostic
Added comment: Two unrelated families, some supportive functional data. Microcephaly is not a consistent feature in the families reported to date.

Cataracts were also post-natal
Sources: Literature
Fetal anomalies v0.4266 CHKA Ain Roesley gene: CHKA was added
gene: CHKA was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CHKA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHKA were set to 35202461
Phenotypes for gene: CHKA were set to neurodevelopmental disorder, CHKA-related MONDO#0700092
Review for gene: CHKA was set to RED
gene: CHKA was marked as current diagnostic
Added comment: post-natal microcephaly and short stature.
Symptoms which were present within the first few months post birth include developmental delay and seizures
Sources: Literature
Fetal anomalies v0.4266 CENPE Ain Roesley gene: CENPE was added
gene: CENPE was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CENPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CENPE were set to 24748105; 30086807
Phenotypes for gene: CENPE were set to Microcephaly 13, primary, autosomal recessive (MIM#616051)
Review for gene: CENPE was set to RED
gene: CENPE was marked as current diagnostic
Added comment: PMID: 24748105;
- 2 siblings from non-consanguineous family of European descent
- patient A: at birth, OFC of -5SD which progressed to -9SD at 5 years of age
- patient B: no measurement at birth but OFC was -7SD at 3 years of age
- cHet for 2 missense

*no new reports since. A review of AR primary microcephaly in 2018 still states just 1 family (PMID: 30086807)
Sources: Literature
Fetal anomalies v0.4266 CDK6 Ain Roesley gene: CDK6 was added
gene: CDK6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CDK6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK6 were set to 23918663
Phenotypes for gene: CDK6 were set to Microcephaly 12, primary, autosomal recessive, MIM#616080
Review for gene: CDK6 was set to AMBER
gene: CDK6 was marked as current diagnostic
Added comment: 1x 8-generational family with 10 affecteds

unclear of microcephaly was present at birth or acquired
Sources: Literature
Fetal anomalies v0.4266 CCDC88A Ain Roesley gene: CCDC88A was added
gene: CCDC88A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CCDC88A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC88A were set to 30392057; 26917597
Phenotypes for gene: CCDC88A were set to PEHO syndrome-like (MIM#617507)
Review for gene: CCDC88A was set to AMBER
gene: CCDC88A was marked as current diagnostic
Added comment: PMID: 26917597;
1x family with 3 affecteds microcephaly (birth OFC -3 - -4 SD)

total of 2 consanguineous families with 5 affecteds and functional studies of KO mice
Sources: Literature
Fetal anomalies v0.4266 APC2 Belinda Chong gene: APC2 was added
gene: APC2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, MIM#618677
Review for gene: APC2 was set to RED
gene: APC2 was marked as current diagnostic
Added comment: Onset in infancy

12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum.
Sources: Literature
Fetal anomalies v0.4266 PPP2R3C Zornitza Stark Publications for gene: PPP2R3C were set to PMID: 30893644, 34714774, 34750818
Fetal anomalies v0.4264 C7orf43 Ain Roesley gene: C7orf43 was added
gene: C7orf43 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: C7orf43 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C7orf43 were set to 30715179
Phenotypes for gene: C7orf43 were set to Microcephaly 25, primary, autosomal recessive, MIM# 618351
Penetrance for gene: C7orf43 were set to Complete
Review for gene: C7orf43 was set to AMBER
gene: C7orf43 was marked as current diagnostic
Added comment: HGNC approved name TRAPPC14

Single family reported: three affected siblings with homozygous truncating variant. Supportive zebrafish model.

Occipital-frontal circumferences were below2 SD at birth, with microcephaly progressing later in life
Sources: Literature
Fetal anomalies v0.4264 ATRIP Ain Roesley gene: ATRIP was added
gene: ATRIP was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ATRIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATRIP were set to 23144622
Phenotypes for gene: ATRIP were set to Seckel Syndrome
Review for gene: ATRIP was set to RED
gene: ATRIP was marked as current diagnostic
Added comment: Red in Mendeliome - only 1 report of post-natal progressive microcephaly
Sources: Literature
Fetal anomalies v0.4264 ATP9A Ain Roesley gene: ATP9A was added
gene: ATP9A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ATP9A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP9A were set to 34764295; 34379057
Phenotypes for gene: ATP9A were set to neurodevelopmental disorder, ATP9A-related MONDO#0700092
Penetrance for gene: ATP9A were set to Complete
Review for gene: ATP9A was set to AMBER
gene: ATP9A was marked as current diagnostic
Added comment: post-natal microcephaly, 4 unrelated families

1x polyhydramnios noted and born small, weight of 3570g (−0.41 SD), a length of 50cm (−1.37 SD) and an OFC of 34cm (−1.47 SD).
Sources: Literature
Fetal anomalies v0.4264 ARPC4 Ain Roesley gene: ARPC4 was added
gene: ARPC4 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARPC4 were set to 35047857
Phenotypes for gene: ARPC4 were set to neurodevelopmental disorder, ARPC4-related MONDO#0700092
Penetrance for gene: ARPC4 were set to Complete
Review for gene: ARPC4 was set to RED
gene: ARPC4 was marked as current diagnostic
Added comment: post natal microcephaly except for 1 noted as 4% at birth

7 affected individuals from 6 families (gonadal mosaicism was confirmed in the mother of the 2 affected siblings) with a recurrent missense variant (NM_005718.4:c.472C>T; p.R158C).

Core features in affected individuals include microcephaly, mild motor delays, and significant speech impairment
Sources: Literature
Fetal anomalies v0.4264 ANKLE2 Ain Roesley gene: ANKLE2 was added
gene: ANKLE2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ANKLE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANKLE2 were set to 25259927; 30214071; 31735666
Phenotypes for gene: ANKLE2 were set to Microcephaly 16, primary, autosomal recessive, MIM# 616681
Review for gene: ANKLE2 was set to GREEN
gene: ANKLE2 was marked as current diagnostic
Added comment: total of 4 unrelated born with microcephaly
Sources: Literature
Fetal anomalies v0.4264 AGMO Ain Roesley gene: AGMO was added
gene: AGMO was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: AGMO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGMO were set to 31555905; 27000257
Phenotypes for gene: AGMO were set to neurodevelopmental disorder, AGMO-related MONDO#0700092
Penetrance for gene: AGMO were set to Complete
Review for gene: AGMO was set to RED
gene: AGMO was marked as current diagnostic
Added comment: syndromic neurodevelopmental disorder with ID, microcephaly and epilesy reported

1x oligo-hydramnios, maternal hypothyroidism, and decreased fetal movement
birth weight was 2892 g (23%) and length was 49.5 cm (50%). Head circumference was not known but noted to be 5–10%

1x uneventful pregnancy
birth weight was 2977 g (55%) and length was 53.3 cm (98%)

1x siblings with post natal microcephaly
Sources: Literature
Fetal anomalies v0.4264 ADD3 Ain Roesley gene: ADD3 was added
gene: ADD3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ADD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADD3 were set to 23836506; 29768408
Phenotypes for gene: ADD3 were set to Cerebral palsy, spastic quadriplegic, 3 MIM#617008
Penetrance for gene: ADD3 were set to Complete
Review for gene: ADD3 was set to RED
gene: ADD3 was marked as current diagnostic
Added comment: post natal borderline microcephaly and cataract
Sources: Literature
Fetal anomalies v0.4264 ADARB1 Ain Roesley gene: ADARB1 was added
gene: ADARB1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADARB1 were set to 32220291; 32719099
Phenotypes for gene: ADARB1 were set to Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, MIM#618862
Penetrance for gene: ADARB1 were set to Complete
Review for gene: ADARB1 was set to AMBER
gene: ADARB1 was marked as current diagnostic
Added comment: 6 unrelated families

1 microcephalic at birth (-2.2 SD) + 1 birth length at -4.3 SD
Sources: Literature
Fetal anomalies v0.4260 NHS Zornitza Stark Publications for gene: NHS were set to
Fetal anomalies v0.4256 D2HGDH Chloe Stutterd gene: D2HGDH was added
gene: D2HGDH was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: D2HGDH was set to GREEN
Added comment: Antenatal features: macrocephaly, enlarged cerebral ventricles, micrognathia
Sources: Literature
Fetal anomalies v0.4256 COLGALT1 Chloe Stutterd gene: COLGALT1 was added
gene: COLGALT1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: COLGALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Added comment: Antenatal features: porencephalic cyst, calcifications
Sources: Literature
Fetal anomalies v0.4256 C2orf69 Chloe Stutterd gene: C2orf69 was added
gene: C2orf69 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: C2orf69 was set to GREEN
Added comment: Antenatal features: microcephaly, thin CC, Dandy-Walker malformation
Sources: Literature
Fetal anomalies v0.4256 ABHD16A Chloe Stutterd gene: ABHD16A was added
gene: ABHD16A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal
Added comment: Antenatal features: thin CC, joint contractures/foot deformity
Sources: Literature
Fetal anomalies v0.4255 PPP2R3C Chirag Patel gene: PPP2R3C was added
gene: PPP2R3C was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PPP2R3C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP2R3C were set to PMID: 30893644, 34714774, 34750818
Phenotypes for gene: PPP2R3C were set to Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM # 618419
Review for gene: PPP2R3C was set to GREEN
Added comment: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy (GDRM) is characterized by 46,XY complete gonadal dysgenesis in association with extragonadal anomalies, low birth weight, typical facial gestalt, rod and cone dystrophy, sensorineural hearing loss, omphalocele, anal atresia, renal agenesis, skeletal abnormalities, dry and scaly skin, severe myopathy, and neuromotor delay. 11 unrelated families with syndromic complete gonadal dysgenesis. 9 families had 46,XY females with complete gonadal dysgenesis, but 2 families had 46,XX patients with hypergonadotropic hypogonadism, nonvisualized gonads, primary amenorrhea, and absence of secondary sexual characteristics. Variants segregated with disease in each family and were not found in ethnically matched controls or in public variant databases. The heterozygous fathers exhibited morphologic abnormalities of spermatozoa and reduced fertility.
Sources: Literature
Fetal anomalies v0.4253 UNC13A Belinda Chong gene: UNC13A was added
gene: UNC13A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: UNC13A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: UNC13A were set to 27648472; 28192369
Phenotypes for gene: UNC13A were set to Congenital myasthenia; dyskinesia; autism; developmental delay
Review for gene: UNC13A was set to RED
Added comment: One individual described with biallelic variants in this gene and a myasthenic syndrome; another individual reported with de novo variant in this gene and a different neurological phenotype (abnormal movements, developmental delay and autism).
Sources: Literature
Fetal anomalies v0.4253 SYT2 Belinda Chong gene: SYT2 was added
gene: SYT2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SYT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SYT2 were set to 25192047; 32776697; 32250532; 30533528
Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040; Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461
Review for gene: SYT2 was set to GREEN
gene: SYT2 was marked as current diagnostic
Added comment: Myasthenic syndrome bi-allelic #619461- Decreased fetal movements

Mono-allelic disease, PMID 25192047 and 30533528: dominant missense variants in SYT2 reported as a rare cause of distal motor neuropathy and myasthenic syndrome, manifesting with stable or slowly progressive distal weakness of variable severity along with presynaptic NMJ impairment in three families. These variants are thought to have a dominant-negative effect on synaptic vesicle exocytosis, although the precise pathomechanism remains to be elucidated.

Bi-allelic disease: 32250532 and 32776697, 8 individuals from 6 families, with biallelic loss of function variants in SYT2, clinically manifesting with severe congenital onset hypotonia and weakness, with variable degrees of respiratory involvement. Electrodiagnostic findings consistent with a presynaptic congenital myasthenic syndrome (CMS) in some. Treatment with an acetylcholinesterase inhibitor pursued in 4 indviduals showed clinical improvement with increased strength and function.
Sources: Literature
Fetal anomalies v0.4253 SLC25A1 Belinda Chong gene: SLC25A1 was added
gene: SLC25A1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A1 were set to 26870663; 31527857; 29226520
Phenotypes for gene: SLC25A1 were set to ?Myasthenic syndrome, congenital, 23, presynaptic MIM#618197; Combined D-2- and L-2-hydroxyglutaric aciduria MIM#615182
Review for gene: SLC25A1 was set to RED
gene: SLC25A1 was marked as current diagnostic
Added comment: Neonatal onset.

Green for MIM#618197
Four unrelated families. mild congenital myasthenic syndrome.

Red for MIM#615182
Five infants of two consanguineous Bedouin families of the same tribe homozygous for the same variant with EEG compatible with white matter disorder. Death usually occurs in childhood.
Sources: Literature
Fetal anomalies v0.4252 NHS Alison Yeung Mode of inheritance for gene: NHS was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.4251 RPH3A Belinda Chong gene: RPH3A was added
gene: RPH3A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RPH3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPH3A were set to 29441694
Phenotypes for gene: RPH3A were set to Congenital myasthenic syndrome
Review for gene: RPH3A was set to RED
gene: RPH3A was marked as current diagnostic
Added comment: Only one patient with a complex phenotype that included myasthenia, with compound het missense variants, of which only one variant had plausible functional expression data.
Sources: Literature
Fetal anomalies v0.4250 NHEJ1 Alison Yeung Publications for gene: NHEJ1 were set to
Fetal anomalies v0.4247 PLEC Belinda Chong gene: PLEC was added
gene: PLEC was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PLEC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PLEC were set to 22144912; 31509265; 21263134; 20624679; 20624679; 21109228; 28824526
Phenotypes for gene: PLEC were set to Epidermolysis bullosa simplex 5C, with pyloric atresia MIM#612138; Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670; Epidermolysis bullosa simplex 5A, Ogna type MIM#131950; Muscular dystrophy, limb-girdle, autosomal recessive 17 (MIM#613723)
Review for gene: PLEC was set to GREEN
gene: PLEC was marked as current diagnostic
Added comment: Multiple variations of EB and also associated with limb-girdle muscular dystrophy. Neonatal to Early childhood onset. However, Epidermolysis bullosa simplex 5C, with pyloric atresia MIM#612138 has prenatal manifestation of Polyhydramnios.
Sources: Literature
Fetal anomalies v0.4246 NEK1 Alison Yeung Publications for gene: NEK1 were set to
Fetal anomalies v0.4244 NEB Alison Yeung Publications for gene: NEB were set to
Fetal anomalies v0.4242 NDUFAF5 Alison Yeung Publications for gene: NDUFAF5 were set to 30266093; 18940309; 21620786
Fetal anomalies v0.4239 NDE1 Alison Yeung Publications for gene: NDE1 were set to
Fetal anomalies v0.4238 NBN Alison Yeung Publications for gene: NBN were set to
Fetal anomalies v0.4237 LAMA5 Belinda Chong gene: LAMA5 was added
gene: LAMA5 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: LAMA5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LAMA5 were set to 33242826; 29534211; 16790509; 30589377; 28735299; 30631761
Phenotypes for gene: LAMA5 were set to bent bone dysplasia; nephrotic syndrome; Presynaptic congenital myasthenic syndrome; multisystem syndrome; developmental delay
Review for gene: LAMA5 was set to RED
Added comment: Currently amber gene and appears postnatal onset (not enough information)

PMID: 29534211 - Three consanguineous families with homozygous missense variants (VUS) identified in two affected siblings with paediatric nephrotic syndrome within each family. No functional studies conducted on the missense variants.
PMID: 16790509 - A hypomorphic Lama5 homozygous mouse model demonstrated proteinuria, cystic kidney disease and death from progressive renal failure at 3–4 weeks of age.
PMID: 24130771 - a single case focal segmental glomerulosclerosis (proteinuria) with biallelic missense variants (VUS - S1469A & V2440I). Also reports p.Gly3685Arg in 2 other cases, which has 11 homozygotes in gnomAD v2.1
PMID: 29764427, 30808327 - Four families with haematuria and proteinuria reported with digenic inheritance of a LAMA5 missense variant with a COL4A4/5 variant. One of those variants (p.His1717Tyr) has 892 homozygotes in gnomAD v2.1
PMID: 28735299, 30589377 - A single large multigenerational family with a multisystem syndrome (including ophthalmic fetures), segregating a heterozygous missense p.V3140M, and supporting knock-in mouse model that recapitulates the phenotype.
PMID: 33242826 - A single family with a bent bone dysplasia in 3 affected siblings with biallelic variants, and some supporting in vitro functional assays.
PMID: 28544784, 29377152 - Single family with congenital myasthenic syndrome with a homozygous missense reported twice.
PMID: 30631761 - a single case with a de novo splice site variant with developmental delay, epilepsy, and hypotonia
Sources: Literature
Fetal anomalies v0.4234 NACC1 Alison Yeung Publications for gene: NACC1 were set to
Fetal anomalies v0.4231 MYT1 Alison Yeung Publications for gene: MYT1 were set to 28612832; 27358179
Fetal anomalies v0.4226 SNRPB Zornitza Stark Publications for gene: SNRPB were set to
Fetal anomalies v0.4223 SON Zornitza Stark Publications for gene: SON were set to
Fetal anomalies v0.4220 SOS1 Zornitza Stark Publications for gene: SOS1 were set to
Fetal anomalies v0.4207 ZMIZ1 Krithika Murali gene: ZMIZ1 was added
gene: ZMIZ1 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMIZ1 were set to 30639322; 31879022
Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies - MIM#618659
Review for gene: ZMIZ1 was set to GREEN
Added comment: Syndromic ID associated with multiple congenital malformations
Sources: Literature, Expert list
Fetal anomalies v0.4207 NME8 Zornitza Stark Publications for gene: NME8 were set to PubMed: 12032915, 12483741, 12928894
Fetal anomalies v0.4206 MIA3 Zornitza Stark Publications for gene: MIA3 were set to PMID: 32101163, 33778321
Fetal anomalies v0.4205 PPP2CA Krithika Murali gene: PPP2CA was added
gene: PPP2CA was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2CA were set to 30595372
Phenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities - MIM#618354
Review for gene: PPP2CA was set to GREEN
Added comment: Syndromic ID associated with congenital brain and heart anomalies.
Sources: Literature, Expert list
Fetal anomalies v0.4205 PACS2 Krithika Murali gene: PACS2 was added
gene: PACS2 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: PACS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PACS2 were set to 34894068; 34859793
Phenotypes for gene: PACS2 were set to Developmental and epileptic encephalopathy 66 - MIM#618067
Review for gene: PACS2 was set to GREEN
Added comment: Associated with syndromic ID/infantile onset epileptic encephalopathy. Phenotypic features include brain and cardiac malformations.
Sources: Literature, Expert list
Fetal anomalies v0.4205 NFIA Krithika Murali gene: NFIA was added
gene: NFIA was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFIA were set to 35018717; 33973697; 32926563
Phenotypes for gene: NFIA were set to Brain malformations with or without urinary tract defects - MIM#613735
Review for gene: NFIA was set to GREEN
Added comment: Haploinsufficiency of the NFIA gene causes NFIA-related disorder, which includes brain abnormalities and intellectual disability, with or without urinary tract defects.
Sources: Literature, Expert list
Fetal anomalies v0.4203 NODAL Zornitza Stark Publications for gene: NODAL were set to
Fetal anomalies v0.4200 ATN1 Krithika Murali gene: ATN1 was added
gene: ATN1 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATN1 were set to 34212383; 30827498
Phenotypes for gene: ATN1 were set to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies - MIM#618494
Review for gene: ATN1 was set to GREEN
Added comment: Monoallelic variants associated with syndromic ID. Phenotypic features include arthrogryposis, epilepsy and congenital malformations of the brain, heart, and genitourinary systems.
Sources: Literature, Expert list
Fetal anomalies v0.4199 BRD4 Zornitza Stark Publications for gene: BRD4 were set to PMID: 29379197, 30302754, 11997514, 34035299
Fetal anomalies v0.4192 SEMA3E Krithika Murali gene: SEMA3E was added
gene: SEMA3E was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SEMA3E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA3E were set to 31691538; 31464029; 15235037
Phenotypes for gene: SEMA3E were set to ?CHARGE syndrome - MIM#214800
Review for gene: SEMA3E was set to AMBER
Added comment: Heterozygous variant identified in a fetus given a clinical diagnosis of CHARGE syndrome.
One individual with a translocation and one individual with a missense variant reported in 2004; some functional data.
Sources: Literature
Fetal anomalies v0.4192 TMEM53 Krithika Murali gene: TMEM53 was added
gene: TMEM53 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TMEM53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM53 were set to 33824347
Phenotypes for gene: TMEM53 were set to Craniotubular dysplasia, Ikegawa type - MIM#619727
Review for gene: TMEM53 was set to RED
Added comment: 33824347 Guo et al 2021 report 5 individuals from 4 unrelated Indian families with a sclerosing bone disorder. Authors report normal prenatal and early postnatal development.
Sources: Literature
Fetal anomalies v0.4192 SGMS2 Krithika Murali gene: SGMS2 was added
gene: SGMS2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SGMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SGMS2 were set to 34236445; 32028018; 30779713; 34761145; 34504906
Phenotypes for gene: SGMS2 were set to Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia - MIM#126550
Review for gene: SGMS2 was set to RED
Added comment: Heterozygous variants in SGMS2 associated with childhood-onset osteoporosis and skeletal
dysplasia. Evidence suggests that some heterozygous missense variants have a dominant negative effect and lead to severe bone fragility and spondylometaphyseal dysplasia, while one recurrent nonsense variant (c.148C > T, p.Arg50*) has been associated with milder bone fragility with or without cranial sclerosis (cranial doughnut lesions). No antenatal features reported in published cases including growth parameters.

---


PMID 32028018 Robinson et al 2020 - provide phenotypic information for 2 unrelated individuals with c.148C > T, p.Arg50* variant. No antenatal history reported.

PMID: 30779713 Pekkinen et al 2019 - identified heterozygous SGMS2 variants in 13 individuals from 6 unrelated families with early-onset osteoporosis and skeletal dysplasia. Identified recurrent nonsense variant in 4 families ( p.Arg50*) presented with childhood-onset osteoporosis with or without cranial sclerosis. 2 families had p.Ile62Ser or p.Met64Arg and. more severe phenotype including with neonatal fracture (clavicular fracture at birth), severe short stature, and spondylometaphyseal dysplasia. No antenatal phenotype/birth growth parameters provided.

PMID: 34761145 Makitie et al 2021 - further examination of bone changes in two individuals already reported in Pekkinen et al 2019 paper with recurrent nonsense variant.

PMID: 34504906 Basalom et al 2021 - no antenatal features reported
Sources: Literature
Fetal anomalies v0.4191 UBA2 Chirag Patel gene: UBA2 was added
gene: UBA2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBA2 were set to PMID: 31332306; 31587267
Phenotypes for gene: UBA2 were set to Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly
Review for gene: UBA2 was set to GREEN
Added comment: 2x unrelated probands with isolated split hand malformation. fs variants - 1x de novo and 1x inherited from apparent unaffected mother (no radiographs of her hand available.

1x proband with unilateral split-hand malformation (missense). Her daughter and grandson reported to have ectrofactyly but were unavailable for testing

PMID: 31332306 - a single individual with a de novo PTC and split hand/foot malformation (SHFM). Additional two multigenic CNVs including this gene in individuals with SHFM and ectrodactyly. Authors mention an additional de novo missense but the patient didnt have SHFM, argue low penetrance PMID: 31587267 - a mother and son with aplasia cutis congenita (ACC), with a heterozygous PTC. Son also has ectrodactyly. Authors note an additional de novo missense in a patient with ACC.
Sources: Expert list
Fetal anomalies v0.4189 SCNN1B Chirag Patel gene: SCNN1B was added
gene: SCNN1B was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SCNN1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCNN1B were set to PubMed: 8589714
Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I - MIM#264350
Review for gene: SCNN1B was set to GREEN
Added comment: Autosomal recessive pseudohypoaldosteronism type I caused by homozygous or compound heterozygous mutation in SCNN1B is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Multiple patients reported.
Sources: Literature
Fetal anomalies v0.4187 SCNN1A Chirag Patel gene: SCNN1A was added
gene: SCNN1A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SCNN1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCNN1A were set to PubMed: 8589714, 31301676
Phenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, type I - MIM#264350
Review for gene: SCNN1A was set to GREEN
Added comment: Autosomal recessive pseudohypoaldosteronism type I caused by homozygous or compound heterozygous mutation in SCNN1A is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Multiple patients reported.
Sources: Literature
Fetal anomalies v0.4184 PAM16 Chirag Patel gene: PAM16 was added
gene: PAM16 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAM16 were set to PubMed: 24786642, 27354339
Phenotypes for gene: PAM16 were set to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320
Review for gene: PAM16 was set to GREEN
Added comment: Megarbane-Dagher-Melki type of spondylometaphyseal dysplasia (SMDMDM) has chondrodysplasia, developmental delay, severe pre- and postnatal short stature, dysmorphic facial appearance, narrow chest, prominent abdomen, and short limbs. 5 patients from 3 unrelated families with homozygous missense mutations which segregate with disease.
Sources: Expert list
Fetal anomalies v0.4182 NME8 Chirag Patel gene: NME8 was added
gene: NME8 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NME8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NME8 were set to PubMed: 12032915, 12483741, 12928894
Phenotypes for gene: NME8 were set to CINCA syndrome, OMIM # 607115
Review for gene: NME8 was set to GREEN
Added comment: Chronic infantile neurologic cutaneous and articular (CINCA) syndrome also known as 'neonatal onset multisystem inflammatory disease,' or NOMID, is a rare congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation. 14 families with heterozygous missense mutations in exon 3. Presenting perinatally so suitable for fetal anomalies panel.
Sources: Literature
Fetal anomalies v0.4180 MIA3 Chirag Patel gene: MIA3 was added
gene: MIA3 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MIA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIA3 were set to PMID: 32101163, 33778321
Phenotypes for gene: MIA3 were set to Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269
Review for gene: MIA3 was set to AMBER
Added comment: Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability. Four affected siblings reported, homozygous variant affecting splicing. Mouse model has absence of bone mineralization. Can present with IUGR antenatally. Suitable for fetal anomalies panel.
Sources: Expert list
Fetal anomalies v0.4178 MBTPS1 Chirag Patel gene: MBTPS1 was added
gene: MBTPS1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MBTPS1 were set to PMID: 32857899; 32420688; 30046013
Phenotypes for gene: MBTPS1 were set to Skeletal dysplasia, no OMIM #
Review for gene: MBTPS1 was set to GREEN
Added comment: Three unrelated individuals reported with bi-allelic variants in this gene and a skeletal dysplasia, one described with SRS-like features. Elevated blood lysosomal enzymes are also a feature.
Sources: Expert list
Fetal anomalies v0.4176 HOXA11 Chirag Patel gene: HOXA11 was added
gene: HOXA11 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXA11 were set to PubMed: 11101832
Phenotypes for gene: HOXA11 were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 , OMIM #605432
Review for gene: HOXA11 was set to AMBER
Added comment: Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm. A heterozygous mutation in the HOXA11 gene was found in affected members of 2 families segregating radioulnar synostosis and amegakaryocytic thrombocytopenia.
Sources: Literature
Fetal anomalies v0.4174 GDF3 Chirag Patel gene: GDF3 was added
gene: GDF3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GDF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GDF3 were set to PubMed: 19864492
Phenotypes for gene: GDF3 were set to Microphthalmia with coloboma 6, OMIM #613703; Microphthalmia, isolated 7, OMIM # 613704
Review for gene: GDF3 was set to GREEN
Added comment: Ye et al. (2010) identified heterozygous missense mutations in the GDF3 gene in 3 probands with bilateral colobomatous microphthalmia.
Sources: Literature
Fetal anomalies v0.4172 COL27A1 Chirag Patel gene: COL27A1 was added
gene: COL27A1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL27A1 were set to PubMed: 24986830, 28276056, 28322503
Phenotypes for gene: COL27A1 were set to Steel syndrome, OMIM #615155
Review for gene: COL27A1 was set to GREEN
Added comment: Steel syndrome is characterized by characteristic facies, congenital dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention. 3 families with biallelic variants reported.
Sources: Literature
Fetal anomalies v0.4170 CHST11 Chirag Patel gene: CHST11 was added
gene: CHST11 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CHST11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST11 were set to PMID: 26436107; 29514872
Phenotypes for gene: CHST11 were set to Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, MIM# 618167
Review for gene: CHST11 was set to GREEN
Added comment: Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum. Two unrelated families reported, note one had a homozygous deletion.
Sources: Expert list
Fetal anomalies v0.4168 PRDM15 Chirag Patel gene: PRDM15 was added
gene: PRDM15 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM15 were set to PMID: 31950080
Phenotypes for gene: PRDM15 were set to Holoprosenephaly; Steroid resistant nephrotic syndrome; Multiple congenital anomalies
Review for gene: PRDM15 was set to AMBER
Added comment: Four consanguineous families reported with same homozygous variant, C844Y, shown to be LoF. Syndromic HPE including SRNS, brain malformations, polydactyly, congenital heart disease. Mouse model, extensive functional data. Two additional homozygous missense identified with isolated SRNS.
Sources: Expert list
Fetal anomalies v0.4165 RNF113A Chirag Patel gene: RNF113A was added
gene: RNF113A was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RNF113A were set to PMID: 25612912; 31793730; 31880405
Phenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive; OMIM #300953
Review for gene: RNF113A was set to GREEN
Added comment: Four families reported, two with same variant. Clinical features include ID, microcephaly, IUGR/growth failure, hypogonadism, and sparse/brittle hair. One of the families had antenatal presentation.
Sources: Expert list
Fetal anomalies v0.4163 RAP1B Chirag Patel gene: RAP1B was added
gene: RAP1B was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAP1B were set to PMID: 32627184; 26280580
Phenotypes for gene: RAP1B were set to Syndromic intellectual disability; short stature
Review for gene: RAP1B was set to GREEN
Added comment: Three unrelated individuals reported, Kabuki-like disorder (multiple malformations, microcephaly, learning difficulties, dysmorphism and other features).
Sources: Literature
Fetal anomalies v0.4161 RAD50 Chirag Patel gene: RAD50 was added
gene: RAD50 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAD50 were set to PMID: 19409520; 32212377; 33378670
Phenotypes for gene: RAD50 were set to Nijmegen breakage syndrome-like disorder, MIM# 613078; MONDO:0013118
Review for gene: RAD50 was set to GREEN
Added comment: Nijmegen breakage syndrome-like disorder (NBSLD) is an autosomal recessive disorder characterized by severe prenatal growth retardation and persistent postnatal growth restriction, congenital microcephaly, borderline to mildly impaired intellectual development, normal sexual development, and radioresistant DNA synthesis with no immunodeficiency, myelodysplasia, or early neurodegeneration. Three unrelated families reported.
Sources: Expert list
Fetal anomalies v0.4157 FRA10AC1 Chirag Patel gene: FRA10AC1 was added
gene: FRA10AC1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRA10AC1 were set to PMID: 34694367
Phenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related
Review for gene: FRA10AC1 was set to GREEN
Added comment: 5 individuals from 3 unrelated families reported. Variable ID, possibly related to variant type with LoF variants associated with more severe ID. All individuals had microcephaly, hypoplasia or agenesis of the corpus callosum, growth retardation, and craniofacial dysmorphism.
Sources: Expert list
Fetal anomalies v0.4155 DNA2 Chirag Patel gene: DNA2 was added
gene: DNA2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNA2 were set to PMID: 24389050; 31045292
Phenotypes for gene: DNA2 were set to Seckel syndrome 8, MIM#615807
Review for gene: DNA2 was set to GREEN
Added comment: Three families described with bi-allelic variants in this gene and a primordial dwarfism/Seckel syndrome phenotype (intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance). Note this gene is associated with multiple phenotypes.
Sources: Expert list
Fetal anomalies v0.4153 BRD4 Chirag Patel gene: BRD4 was added
gene: BRD4 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: BRD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRD4 were set to PMID: 29379197, 30302754, 11997514, 34035299
Phenotypes for gene: BRD4 were set to Cornelia de Lange syndrome (no OMIM# yet)
Review for gene: BRD4 was set to GREEN
Added comment: Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, prenatal onset growth retardation, and developmental delay. About 1% of patients have mutations in the BRD4 gene. % patients reported with functional evidence.
Sources: Expert list
Fetal anomalies v0.4151 PPP1R12A Chirag Patel gene: PPP1R12A was added
gene: PPP1R12A was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP1R12A were set to PMID: 31883643
Phenotypes for gene: PPP1R12A were set to Intellectual disability; holoprosencephaly; disorder of sex development
Review for gene: PPP1R12A was set to GREEN
Added comment: 12 unrelated individuals now published.
Sources: Expert list
Fetal anomalies v0.4149 MNS1 Chirag Patel gene: MNS1 was added
gene: MNS1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MNS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MNS1 were set to PMID: 31534215; 30148830
Phenotypes for gene: MNS1 were set to Heterotaxy; male infertility; Heterotaxy, visceral, 9, autosomal, with male infertility 618948
Review for gene: MNS1 was set to GREEN
Added comment: Eight families reported altogether. However, four are Amish and share same homozygous founder variant, and some of the other reported families are consanguineous and share another founder. A reported female with a third variant, also had a homozygous variant in DNAH5 with a blended phenotype postulated.
Sources: Expert list
Fetal anomalies v0.4147 CFAP52 Chirag Patel gene: CFAP52 was added
gene: CFAP52 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CFAP52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP52 were set to PMID: 25469542; 33139725
Phenotypes for gene: CFAP52 were set to Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607
Review for gene: CFAP52 was set to GREEN
Added comment: Five unrelated families and functional data.
Sources: Expert list
Fetal anomalies v0.4145 CFAP45 Chirag Patel gene: CFAP45 was added
gene: CFAP45 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CFAP45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP45 were set to PMID: 33139725
Phenotypes for gene: CFAP45 were set to Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608
Review for gene: CFAP45 was set to GREEN
Added comment: Three unrelated individuals reported with bi-alleic LOF variants, mouse model recapitulated phenotype.
Sources: Expert list
Fetal anomalies v0.4143 EDN3 Chirag Patel gene: EDN3 was added
gene: EDN3 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EDN3 were set to PMID: 8630502; 11303518; 9359047; 10231870; 30171849; 27370713
Phenotypes for gene: EDN3 were set to Central hypoventilation syndrome, congenital, MIM# 209880; Waardenburg syndrome, type 4B, MIM# 613265; {Hirschsprung disease, susceptibility to, 4}, MIM# 613712
Review for gene: EDN3 was set to GREEN
Added comment: Variants in this gene have been reported in both isolated HD and syndromic HD, variable penetrance. However, the variants reported in PMID 9359047 with isolated HD are present at high frequencies in gnomad: p.Ala17Thr >800 hets in gnomad, p.Ala224Thr >100 hets. Association with syndromic neural crest disorders is more definitive, and HD is reported in a proportion of individuals.
Sources: Expert list
Fetal anomalies v0.4140 SOX2 Seb Lunke Publications for gene: SOX2 were set to
Fetal anomalies v0.4138 SOX3 Seb Lunke Publications for gene: SOX3 were set to
Fetal anomalies v0.4136 SOX3 Seb Lunke Added comment: Comment on list classification: Ala Repeat expansion linked to growth hormone deficiency, but not much evidence so far, onset appears post-natal, and described brain MRI findings appear subtle.
Fetal anomalies v0.4133 SPAG1 Seb Lunke Publications for gene: SPAG1 were set to
Fetal anomalies v0.4132 RASGRP2 Krithika Murali gene: RASGRP2 was added
gene: RASGRP2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RASGRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RASGRP2 were set to 28637664; 28726538; 28762304; 30046681; 34066320; 33711653; 33376940; 32609603; 30849270; 30046681
Phenotypes for gene: RASGRP2 were set to ?Bleeding disorder, platelet-type, 18 - MIM#615888
Review for gene: RASGRP2 was set to RED
Added comment: Postnatal presentation only with no antenatal features reported.
Sources: Literature
Fetal anomalies v0.4132 ALG14 Belinda Chong gene: ALG14 was added
gene: ALG14 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG14 were set to 23404334; 28733338; 30221345; 23404334; 28733338
Phenotypes for gene: ALG14 were set to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036; Disorder of N-glycosylation
Review for gene: ALG14 was set to GREEN
gene: ALG14 was marked as current diagnostic
Added comment: Three OMIM disorders however, only Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036 with prenatal manifestations.

5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype. ALG14 is part of the UDP-GlcNAc transferase, which catalyzes a key step in endoplasmic reticulum N-linked glycosylation. The three OMIM disorders may represent a spectrum of severity for CDG.
Sources: Literature
Fetal anomalies v0.4132 PLEKHM1 Krithika Murali gene: PLEKHM1 was added
gene: PLEKHM1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PLEKHM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PLEKHM1 were set to 17404618; 17997709; 27291868; 27777970; 28290981
Phenotypes for gene: PLEKHM1 were set to ?Osteopetrosis, autosomal recessive 6 - MIM#611497; Osteopetrosis, autosomal dominant 3 - MIM#618107
Review for gene: PLEKHM1 was set to RED
Added comment: No antenatal features reported.

--
PMID: 17997709 Del Fattore et al 2008 - female proband with monoallelic variant, no antenatal features reported.

PMID: 27291868 Bo et al 2016 - male proband with osteopetrosis and heterozygous de novo variant. No antenatal features reported.

PMID: 28290981 Moore et al 2017 - compound het variants, osteopetrosis diagnosis in a 19 year old. No antenatal features reported.

PMID: 21054159 Almarzooqi et al 2010 - heterozygous variant, infantile osteopetrosis and xanthogranuloma, uncomplicated pregnancy.
Sources: Literature
Fetal anomalies v0.4132 FERMT3 Krithika Murali gene: FERMT3 was added
gene: FERMT3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FERMT3 were set to 31068971; 34485203; 33391282; 31724816; 30412664; 25854317; 28095295; 26359933; 25072369; 22134107; 20216991; 19234463; 19234460; 18779414
Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III - MIM#612840
Review for gene: FERMT3 was set to RED
Added comment: Biallelic variants associated with LAD3 syndrome (primary immunodeficiency and platelet function defects). Symptom onset reported from birth, no antenatal features reported.

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PMID: 34485203 Yahya et al 2021 - no antenatal issues reported

PMID: 33391282 Kambli et al 2020 - no antenatal features reported for 5 individuals with LAD3

PMID 31068971 Shahid et al 2019 - no antenatal features

PMID: 31724816 Manukjan et al 2019 - no antenatal issues reported in 1 affected individual

PMID: 28095295 Palagano et al 2017 - report female proband with infantile-onset osteopetrosis and symptomatic haematological anomalies at birth requiring bone marrow transplant. Authors postulate in utero onset but no antenatal features reported.

PMID: 26359933 Suratannon et al 2016 - report a female Thai proband with a milder/atypical phenotype, no antenatal features reported

PMID: 25854317 Crazzolara et al 2015 - presented D7 of life with infection, bleeeding issues and noted radiologically to have dense bones. No antenatal features.

PMID: 25072369 Stepensky et al 2015 - report 3 individuals with bleeding tendency from birth and onset of recurrent infections as an infant, normal antenatal history.

PMID: 20357244 McDowall et al 2010 - symptom onset from birth, no antenatal features

PMID: 20216991 Jurk et al 2010 - 2 affected siblings, no antenatal features reported.

PMID: 19234463 Svensson et al 2009 - no antenatal features reported

PMID: 19234460 Malinin et al 2009 - no antenatal features reported

PMID: 19064721 Kuijpers et al 2009 - 9 individuals from 7 unrelated families, no antenatal features reported.
Sources: Literature
Fetal anomalies v0.4131 SPATA5 Zornitza Stark Publications for gene: SPATA5 were set to
Fetal anomalies v0.4128 SPG11 Zornitza Stark Publications for gene: SPG11 were set to
Fetal anomalies v0.4126 SPG11 Zornitza Stark changed review comment from: Bi-alllelic variants in this gene also cause spastic paraplegia-11 (OMIM# 604360) but also juvenile amyotrophic lateral sclerosis-5 (OMIM# 602099), and CMT2X. Same variants have been reported in association with different phenotypes, poor genotype-phenotype correlation.

Recent review of >300 individuals with SPG11-related disease. Mean age at onset was 13.10 ± 3.65 years, with initial symptoms like gait disturbance (107/195, 54.87%) and intellectual disability (47/195, 24.10%). Cognitive decline (228/270, 84.44%) was the most common complex manifestation stepped by dysarthria (134/195, 68.72%), neuropathy (112/177, 63.28%), amyatrophy, sphincter disturbance (60/130, 46.15%) and ataxia (90/194, 46.39%).; to: Bi-alllelic variants in this gene also cause spastic paraplegia-11 (OMIM# 604360) but also juvenile amyotrophic lateral sclerosis-5 (OMIM# 602099), and CMT2X. Same variants have been reported in association with different phenotypes, poor genotype-phenotype correlation.

Recent review of >300 individuals with SPG11-related disease. Mean age at onset was 13.10 ± 3.65 years, with initial symptoms like gait disturbance (107/195, 54.87%) and intellectual disability (47/195, 24.10%). Cognitive decline (228/270, 84.44%) was the most common complex manifestation stepped by dysarthria (134/195, 68.72%), neuropathy (112/177, 63.28%), amyatrophy, sphincter disturbance (60/130, 46.15%) and ataxia (90/194, 46.39%).

Although onset of clinical features is typically in childhood or later, absent CC/CC abnormalities reported.
Fetal anomalies v0.4125 SPRED1 Zornitza Stark Publications for gene: SPRED1 were set to
Fetal anomalies v0.4121 SRCAP Zornitza Stark Publications for gene: SRCAP were set to
Fetal anomalies v0.4118 SRD5A3 Zornitza Stark Publications for gene: SRD5A3 were set to
Fetal anomalies v0.4116 STAG2 Zornitza Stark Publications for gene: STAG2 were set to 29263825; 28296084; 30158690
Fetal anomalies v0.4114 STAMBP Zornitza Stark Publications for gene: STAMBP were set to
Fetal anomalies v0.4112 STRA6 Zornitza Stark Publications for gene: STRA6 were set to
Fetal anomalies v0.4110 SUMF1 Zornitza Stark Publications for gene: SUMF1 were set to
Fetal anomalies v0.4108 SUZ12 Zornitza Stark Publications for gene: SUZ12 were set to 30019515; 28229514
Fetal anomalies v0.4106 SUZ12 Zornitza Stark changed review comment from: Thirteen individuals from 12 families.; to: Thirteen individuals from 12 families. Overgrowth of prenatal onset, brain abnormalities reported in some.
Fetal anomalies v0.4105 TAF1 Zornitza Stark Publications for gene: TAF1 were set to
Fetal anomalies v0.4103 TAZ Zornitza Stark Publications for gene: TAZ were set to
Fetal anomalies v0.4101 TBCD Zornitza Stark Publications for gene: TBCD were set to
Fetal anomalies v0.4099 TBX1 Zornitza Stark Publications for gene: TBX1 were set to
Fetal anomalies v0.4095 TBX3 Zornitza Stark Publications for gene: TBX3 were set to
Fetal anomalies v0.4092 TBX5 Zornitza Stark Publications for gene: TBX5 were set to
Fetal anomalies v0.4089 TCF4 Zornitza Stark Publications for gene: TCF4 were set to
Fetal anomalies v0.4086 TCTN1 Zornitza Stark Publications for gene: TCTN1 were set to
Fetal anomalies v0.4084 TCTN2 Zornitza Stark Publications for gene: TCTN2 were set to 30712880
Fetal anomalies v0.4082 TCTN3 Zornitza Stark Publications for gene: TCTN3 were set to
Fetal anomalies v0.4080 TFAP2A Zornitza Stark Publications for gene: TFAP2A were set to
Fetal anomalies v0.4077 TFAP2B Zornitza Stark Publications for gene: TFAP2B were set to
Fetal anomalies v0.4068 TGIF1 Zornitza Stark Publications for gene: TGIF1 were set to
Fetal anomalies v0.4065 TINF2 Zornitza Stark Publications for gene: TINF2 were set to
Fetal anomalies v0.4062 TMEM138 Zornitza Stark Publications for gene: TMEM138 were set to
Fetal anomalies v0.4060 TMEM165 Zornitza Stark Publications for gene: TMEM165 were set to
Fetal anomalies v0.4058 TMEM231 Zornitza Stark Publications for gene: TMEM231 were set to
Fetal anomalies v0.4056 TMEM237 Zornitza Stark Publications for gene: TMEM237 were set to
Fetal anomalies v0.4054 TMEM5 Zornitza Stark Publications for gene: TMEM5 were set to
Fetal anomalies v0.4052 TMEM67 Zornitza Stark Publications for gene: TMEM67 were set to
Fetal anomalies v0.4050 TOP3A Zornitza Stark Publications for gene: TOP3A were set to 30193137
Fetal anomalies v0.4046 TPM2 Zornitza Stark Publications for gene: TPM2 were set to 12592607; 17339586
Fetal anomalies v0.4043 TRAF7 Zornitza Stark Publications for gene: TRAF7 were set to 29961569
Fetal anomalies v0.4040 TRAPPC9 Zornitza Stark Publications for gene: TRAPPC9 were set to
Fetal anomalies v0.4037 TRIP11 Zornitza Stark Publications for gene: TRIP11 were set to
Fetal anomalies v0.4035 TRIP12 Zornitza Stark Publications for gene: TRIP12 were set to
Fetal anomalies v0.4032 TRIP4 Zornitza Stark Phenotypes for gene: TRIP4 were changed from Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896; ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066; Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866; Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806 to Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866; Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806
Fetal anomalies v0.4030 TSEN54 Zornitza Stark Publications for gene: TSEN54 were set to 16470708; 20952379; 20956791
Fetal anomalies v0.4028 TTC21B Zornitza Stark Publications for gene: TTC21B were set to
Fetal anomalies v0.4026 TTC8 Zornitza Stark Publications for gene: TTC8 were set to
Fetal anomalies v0.4024 TTN Zornitza Stark Publications for gene: TTN were set to 29575618; 28040389; 29691892
Fetal anomalies v0.4022 TUBB Zornitza Stark Publications for gene: TUBB were set to
Fetal anomalies v0.4020 TUBB2A Zornitza Stark Publications for gene: TUBB2A were set to 28840640; 30016746; 25326637; 27770045; 24702957
Fetal anomalies v0.4017 TUBB2B Zornitza Stark Publications for gene: TUBB2B were set to
Fetal anomalies v0.4015 TUBGCP6 Zornitza Stark Publications for gene: TUBGCP6 were set to
Fetal anomalies v0.4013 UBA1 Zornitza Stark Publications for gene: UBA1 were set to
Fetal anomalies v0.4011 UBE3B Zornitza Stark Publications for gene: UBE3B were set to
Fetal anomalies v0.4009 UBR1 Zornitza Stark Publications for gene: UBR1 were set to
Fetal anomalies v0.4007 UMPS Zornitza Stark Publications for gene: UMPS were set to
Fetal anomalies v0.4005 VIPAS39 Zornitza Stark Publications for gene: VIPAS39 were set to
Fetal anomalies v0.4001 VPS33B Zornitza Stark Publications for gene: VPS33B were set to
Fetal anomalies v0.3999 VSX2 Zornitza Stark Publications for gene: VSX2 were set to
Fetal anomalies v0.3997 WDPCP Zornitza Stark Publications for gene: WDPCP were set to
Fetal anomalies v0.3995 WDR19 Zornitza Stark Publications for gene: WDR19 were set to
Fetal anomalies v0.3987 ZNF711 Zornitza Stark Publications for gene: ZNF711 were set to
Fetal anomalies v0.3985 XPA Zornitza Stark Publications for gene: XPA were set to
Fetal anomalies v0.3982 WDR11 Zornitza Stark Publications for gene: WDR11 were set to
Fetal anomalies v0.3978 WASHC5 Zornitza Stark Publications for gene: WASHC5 were set to
Fetal anomalies v0.3976 WAC Zornitza Stark Publications for gene: WAC were set to
Fetal anomalies v0.3973 UROC1 Zornitza Stark Publications for gene: UROC1 were set to
Fetal anomalies v0.3971 UPF3B Zornitza Stark Publications for gene: UPF3B were set to
Fetal anomalies v0.3970 UNC80 Zornitza Stark Publications for gene: UNC80 were set to
Fetal anomalies v0.3969 UFM1 Zornitza Stark Phenotypes for gene: UFM1 were changed from Severe early-onset encephalopathy with progressive microcephaly, to Leukodystrophy, hypomyelinating, 14 MIM#617899
Fetal anomalies v0.3968 UFM1 Zornitza Stark Publications for gene: UFM1 were set to 29868776
Fetal anomalies v0.3967 UFC1 Zornitza Stark Phenotypes for gene: UFC1 were changed from Severe early-onset encephalopathy with progressive microcephaly to Neurodevelopmental disorder with spasticity and poor growth (MIM#618076)
Fetal anomalies v0.3966 UFC1 Zornitza Stark Publications for gene: UFC1 were set to
Fetal anomalies v0.3963 UBE2A Zornitza Stark Publications for gene: UBE2A were set to
Fetal anomalies v0.3962 UBA5 Zornitza Stark Phenotypes for gene: UBA5 were changed from Severe Infantile-Onset Encephalopathy to Epileptic encephalopathy, early infantile, 44 (MIM#617132)
Fetal anomalies v0.3961 UBA5 Zornitza Stark Publications for gene: UBA5 were set to
Fetal anomalies v0.3959 TUSC3 Zornitza Stark Publications for gene: TUSC3 were set to
Fetal anomalies v0.3957 TMEM70 Zornitza Stark Publications for gene: TMEM70 were set to
Fetal anomalies v0.3953 TGFB1 Zornitza Stark Publications for gene: TGFB1 were set to
Fetal anomalies v0.3950 TERT Zornitza Stark Publications for gene: TERT were set to
Fetal anomalies v0.3947 TCN2 Zornitza Stark Publications for gene: TCN2 were set to
Fetal anomalies v0.3945 SYNGAP1 Zornitza Stark Publications for gene: SYNGAP1 were set to
Fetal anomalies v0.3942 STAG1 Zornitza Stark Publications for gene: STAG1 were set to
Fetal anomalies v0.3939 SLC9A6 Zornitza Stark Publications for gene: SLC9A6 were set to
Fetal anomalies v0.3937 SLC46A1 Zornitza Stark Publications for gene: SLC46A1 were set to
Fetal anomalies v0.3935 SLC37A4 Zornitza Stark Publications for gene: SLC37A4 were set to
Fetal anomalies v0.3934 SLC37A4 Zornitza Stark changed review comment from: Bi-allelic LOF variants in this gene cause glycogen storage disorder.

Single individual reported with heterozygous de novo variant in this gene. Clinical features included dysmorphic features (low set ears, a broad nose, mandibular micrognathia and facial asymmetry) and hepatopathy. The variant abolishes the ER retention signal of the transporter and generates a weak Golgi retention signal. Intracellular mislocalization of the transporter is postulated to lead to a congenital disorder of glycosylation instead of glycogen storage disease.
Sources: Literature; to: Bi-allelic LOF variants in this gene cause glycogen storage disorder. Clinical presentation is typically post-natal.

Single individual reported with heterozygous de novo variant in this gene. Clinical features included dysmorphic features (low set ears, a broad nose, mandibular micrognathia and facial asymmetry) and hepatopathy. The variant abolishes the ER retention signal of the transporter and generates a weak Golgi retention signal. Intracellular mislocalization of the transporter is postulated to lead to a congenital disorder of glycosylation instead of glycogen storage disease.
Sources: Literature
Fetal anomalies v0.3932 SLC2A1 Zornitza Stark Phenotypes for gene: SLC2A1 were changed from GLUT1 DEFICIENCY SYNDROME TYPE 2; GLUT1 DEFICIENCY SYNDROME TYPE 1 to GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777
Fetal anomalies v0.3927 SHROOM4 Zornitza Stark Publications for gene: SHROOM4 were set to 32565546
Fetal anomalies v0.3924 SDHAF1 Zornitza Stark Publications for gene: SDHAF1 were set to
Fetal anomalies v0.3923 SCO1 Zornitza Stark Publications for gene: SCO1 were set to
Fetal anomalies v0.3919 PURA Zornitza Stark Publications for gene: PURA were set to
Fetal anomalies v0.3915 ALB Krithika Murali gene: ALB was added
gene: ALB was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ALB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALB were set to 23730173; 15300429; 31057599
Phenotypes for gene: ALB were set to Analbuminemia- MIM#616000
Review for gene: ALB was set to GREEN
Added comment: Biallelic variants associated with congenital analbuminaemia. Prenatal features include IUGR and oligohydramnios.

Allelic condition OMIM# 615999
Mono-allelic disease and dysalbuminemic hyperthyroxinemia: gain-of-function mechanism, missense variants of ALB with increased affinity for thyroid hormones. Immunoassay methods may show variably elevated free thyroid hormone levels. Individuals are euthyroid and identification is important to avoid unnecessary medical or surgical treatment.
Sources: Literature
Fetal anomalies v0.3908 RASA2 Krithika Murali gene: RASA2 was added
gene: RASA2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RASA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RASA2 were set to 25049390
Phenotypes for gene: RASA2 were set to Noonan syndrome
Review for gene: RASA2 was set to AMBER
Added comment: No OMIM gene disease association. Borderline red-amber gene. No new publications since last PanelApp review in 2020

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One previous paper from 2014 described 3 patients with Noonan Syndrome and novel variants in RASA2. No segregation or functional data on the specific variants was provided. One of the three patients had an alternative variant in a different candidate gene.

A more recent review using ClinGen criteria (2018) only found the disease association to have limited evidence, with no further patients identified since the 2014 paper, and none since.
Sources: Literature
Fetal anomalies v0.3908 MAPK1 Krithika Murali gene: MAPK1 was added
gene: MAPK1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK1 were set to 32721402
Phenotypes for gene: MAPK1 were set to Noonan syndrome 13 - MIM#619087
Review for gene: MAPK1 was set to GREEN
Added comment: Associated with Noonan syndrome including congenital heart defects. No new publications since last PanelApp review Aug 2020

--
Motta et al (2020 - PMID: 32721402) report on 7 unrelated individuals harboring de novo missense MAPK1 pathogenic variants.

The phenotype corresponded to a neurodevelopmental disorder and - as the authors comment - consistently included DD, ID , behavioral problems. Postnatal growth delay was observed in approximately half. Hypertelorism, ptosis, downslant of palpebral fissures, wide nasal bridge as low-set/posteriorly rotated ears were among the facial features observed (each in 3 or more subjects within this cohort). Together with short/webbed neck and abnormalities of skin (lentigines / CAL spots) and growth delay these led to clinical suspicion of Noonan s. or disorder of the same pathway in some. Congenital heart defects (ASD, mitral valve insufficiency, though not cardiomyopathy) occurred in 4/7. Bleeding diathesis and lymphedema were reported only once.

MAPK1 encodes the mitogen-activated protein kinase 1 (also known as ERK2) a serine/threonine kinase of the RAS-RAF-MEK-(MAPK/)ERK pathway.

MAPK1 de novo variants were identified in all individuals following trio exome sequencing (and extensive previous genetic investigations which were non-diagnostic).

The distribution of variants, as well as in silico/vitro/vivo studies suggest a GoF effect (boosted signal through the MAPK cascade. MAPK signaling also upregulated in Noonan syndrome).
Sources: Literature
Fetal anomalies v0.3908 PLOD3 Krithika Murali gene: PLOD3 was added
gene: PLOD3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLOD3 were set to 30237576; 18834968
Phenotypes for gene: PLOD3 were set to Lysyl hydroxylase 3 deficiency - MIM#612394
Review for gene: PLOD3 was set to GREEN
Added comment: 4 unrelated families reported with biallelic PLOD3 variants and Stickler-syndrome like phenotype including antenatal phenotype of IUGR in one family.
--
PMID 30237576 Maddirevula et al 2019 - report homozygous nonsense variant in a proband with dysmorphic facies, microcephaly, ptosis and contractures. No antenatal information provided.

PMID 31129566 Ewans et al 2019 - report 3 affected siblings with a Stickler-syndrome like disorder.
- Patient 1 had congenital nystagmus and presented with hearing loss and myopia. On examination aged 2, noted to have dysmorphic features - prominent eyes, hypertelorism, malar hypoplasia, an upturned nose, low-set ears and microretrognathia.
- Patient 2 noted to have camptodactyly and clinodactyly postnatally. On examination age 5 noted to have DIP joint contractures and mild skin syndactyly.
- Patient 3 - breech delivery. bilateral hand foot camptodactyly, facial dysmorphism.
- No antenatal features reported.

PMID 30463024 Vahidnehzad et al 2019 - report a male proband from a consanguineous Iranian Baloch family referred for assessment age 4.5. Noted to have developmental delay, musculoskeletal manifestations including scoliosis, flexion contractions, cutaneous syndactyly, right diaphragmatic eventration, ocular anomalies, growth failure and skin blisters. No concerns antenatally. Postnatally noted to have cataract and facial dysmorphism (midface hypoplasia). Homozygous PLOD3 missense variant identified, parents unaffected carriers. PLOD3 mRNA levels in the patient’s fibroblasts measured by whole-transcriptome sequencing and confirmed by RT-PCR, were the same as in control cells, however, the expression of type VII collagen was reduced significantly. No antenatal features reported.

PMID: 18834968 Salo et al 2008 - a female proband with significant IUGR, characteristic craniofacial profile, diaphragm eventration, skeletal anomalies (bilateral talipes equinovarus, flexion contractures, scoliosis from age 7), skin anomalies incl blistering and ocular anomalies. One 28 week male stillborn sibling noted to have significant IUGR and skeletal anomalies on post-mortem. Supportive functional evidence. Compound het PLOD3 variants.
Sources: Literature
Fetal anomalies v0.3908 LOXL3 Krithika Murali gene: LOXL3 was added
gene: LOXL3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: LOXL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LOXL3 were set to 25663169; 26307084; 26957899; 29802726; 30362103; 34787502
Phenotypes for gene: LOXL3 were set to Stickler syndrome; cleft lip/palate
Review for gene: LOXL3 was set to AMBER
Added comment: Biallelic variants reported in association with Stickler syndrome in 2 unrelated families. Also identified in one individual with non-syndromic Pierre Robin sequence who had a CNV also.

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PMID 34787502 Sood et al 2021 - proband with non-syndromic Pierre Robin sequence - homozygous missense LOXL3 variant identified. Sibling also had non-syndromic PRS, but genetic testing declined by family. In addition 551 kb chr10q26.2 duplication identified, no parental testing information provided, not previously reported to be associated with CL/P.

PMID 30362103 Chan et al 2019 - report father and son with Stickler syndrome and homozygous LOXL3 missense variants. Predominantly ocular phenotype with no antenatal features reported.

PMID: 29802726 Khan et al 2018 - genotyping of 258 probands with non-syndromic cleft palate (nsCP) and their parents, focusing in particular on common missense variant p.Ile615Phe. Identified four Phe/Phe homozygotes, report significant association between infant’s homozygote Phe/Phe genotype and the risk of nsCP, compared to common Ile/Ile homozygotes

PMID 26957899 Li et al 2016 - A homozygous frameshift mutation (c.39dup; p.L14Afs*21) and a compound heterozygous frameshift mutation (c.39dup; p.L14Afs*21 and c.594delG; p.Q199Kfs*35) in LOXL3 were separately identified in two of 298 probands with early-onset high myopia.

PMID: 26307084 Zhang et al 2015 - Mice lacking LOXL3 exhibited perinatal lethality and were noted to have cleft palate and spinal deformity.

PMID: 25663169 Alzahrani et al 2015 - homozygous variant identified in 2 children with Stickler syndrome from the same family, both children had cleft lip/palate.
Sources: Literature
Fetal anomalies v0.3908 PDIA6 Krithika Murali gene: PDIA6 was added
gene: PDIA6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDIA6 were set to 33495992
Phenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Review for gene: PDIA6 was set to AMBER
Added comment: No new publications since last PanelApp review. Single case upgraded to Amber on the basis of functional data

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1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans.
Sources: Literature
Fetal anomalies v0.3908 GRK2 Krithika Murali gene: GRK2 was added
gene: GRK2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GRK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRK2 were set to 33200460
Phenotypes for gene: GRK2 were set to Jeune asphyxiating thoracic dystrophy (ATD)
Review for gene: GRK2 was set to AMBER
Added comment: 2 unrelated families from a single study reported with supportive functional evidence.
Sources: Literature
Fetal anomalies v0.3908 SCN1A Zornitza Stark Publications for gene: SCN1A were set to 29543227; 32928894
Fetal anomalies v0.3904 RSPH3 Zornitza Stark Publications for gene: RSPH3 were set to 30166424
Fetal anomalies v0.3902 RSPH1 Zornitza Stark Publications for gene: RSPH1 were set to 30166424
Fetal anomalies v0.3900 PTEN Zornitza Stark Publications for gene: PTEN were set to
Fetal anomalies v0.3894 PTH1R Zornitza Stark Publications for gene: PTH1R were set to
Fetal anomalies v0.3890 PTF1A Zornitza Stark Publications for gene: PTF1A were set to
Fetal anomalies v0.3888 PTDSS1 Zornitza Stark Publications for gene: PTDSS1 were set to
Fetal anomalies v0.3885 PSPH Zornitza Stark Publications for gene: PSPH were set to
Fetal anomalies v0.3883 POLR1D Zornitza Stark Publications for gene: POLR1D were set to
Fetal anomalies v0.3878 STAR Zornitza Stark Publications for gene: STAR were set to
Fetal anomalies v0.3877 SRD5A2 Zornitza Stark Publications for gene: SRD5A2 were set to
Fetal anomalies v0.3875 SOX9 Zornitza Stark Publications for gene: SOX9 were set to 30712880; 28425981
Fetal anomalies v0.3872 SOX17 Zornitza Stark Publications for gene: SOX17 were set to
Fetal anomalies v0.3868 PRRT2 Zornitza Stark Publications for gene: PRRT2 were set to
Fetal anomalies v0.3866 PPM1D Zornitza Stark Publications for gene: PPM1D were set to
Fetal anomalies v0.3863 POLG Zornitza Stark Publications for gene: POLG were set to
Fetal anomalies v0.3860 POLG Zornitza Stark changed review comment from: Cataracts are described in individuals with bi-allelic and mono-allelic POLG variants.

Fetal presentation with cerebellar abnormalities reported PMID 29574624.; to: Cataracts are described in individuals with bi-allelic and mono-allelic POLG variants, though onset may be later.

Fetal presentation with cerebellar abnormalities reported PMID 29574624.
Fetal anomalies v0.3859 POLD1 Zornitza Stark Publications for gene: POLD1 were set to
Fetal anomalies v0.3855 PDHB Zornitza Stark Publications for gene: PDHB were set to 26865159
Fetal anomalies v0.3852 NT5C2 Zornitza Stark Publications for gene: NT5C2 were set to
Fetal anomalies v0.3849 NR2F1 Zornitza Stark Publications for gene: NR2F1 were set to
Fetal anomalies v0.3846 NGLY1 Zornitza Stark Publications for gene: NGLY1 were set to
Fetal anomalies v0.3844 NFU1 Zornitza Stark Publications for gene: NFU1 were set to
Fetal anomalies v0.3842 NDUFS7 Zornitza Stark Publications for gene: NDUFS7 were set to
Fetal anomalies v0.3840 NDUFS4 Zornitza Stark Publications for gene: NDUFS4 were set to
Fetal anomalies v0.3838 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to
Fetal anomalies v0.3836 MYT1L Zornitza Stark Publications for gene: MYT1L were set to
Fetal anomalies v0.3831 MPZ Zornitza Stark edited their review of gene: MPZ: Added comment: Variants in this gene are associated with various types of neuropathy, most with post-natal onset.

However, at the severe end of the spectrum can present antenatally with decreased fetal movements and arthrogryposis.; Changed rating: GREEN; Changed phenotypes: Hypomyelinating neuropathy, congenital, 2, MIM# 618184; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3828 SNX14 Zornitza Stark Publications for gene: SNX14 were set to
Fetal anomalies v0.3825 TSHR Krithika Murali gene: TSHR was added
gene: TSHR was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TSHR were set to 23295291; 9360555; 7800007; 18655531; 15163335
Phenotypes for gene: TSHR were set to Hyperthyroidism, nonautoimmune - MIM#609152; Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200
Review for gene: TSHR was set to GREEN
Added comment: Heterozygous variants associated with hyperthyroidism. De novo GoF variants in particular associated with more severe, non-autoimmune congenital hyperthyroidism. Biallelic LoF variants associated with congenital hypothyroidism.

Premature delivery, IUGR and fetal tachycardia are reported antenatal phenotypes. Goitre also noted at birth in some cases. Craniosynostosis also a feature, but diagnosed postnatally in the context of rapidly advancing bone age.

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PMID: 9360555 Holzapfel 1997 - report IUGR and antenatal fetal tachycardia

PMID: 7800007 Kopp et al 1995 - proband born prematurely at 32 weeks gestation with BW of 1660g. Fetal tachycardia and diffuse goitre noted postnatally.

PMID: 18655531 Chester et al 2008 - proband born at 34 weeks. Antenatal ultrasound had shown thickened nuchal fold.

PMID: 15163335 Vaidya et al 2004 - report two siblings born premature with IUGR, heterozygous variant inherited from affected father.
Sources: Literature
Fetal anomalies v0.3824 MPV17 Zornitza Stark Publications for gene: MPV17 were set to
Fetal anomalies v0.3823 MPI Zornitza Stark Publications for gene: MPI were set to
Fetal anomalies v0.3821 MGAT2 Zornitza Stark Publications for gene: MGAT2 were set to
Fetal anomalies v0.3817 MAOA Zornitza Stark Publications for gene: MAOA were set to
Fetal anomalies v0.3813 PRMT7 Zornitza Stark Publications for gene: PRMT7 were set to
Fetal anomalies v0.3811 TBC1D24 Zornitza Stark Publications for gene: TBC1D24 were set to
Fetal anomalies v0.3809 PHOX2B Zornitza Stark Publications for gene: PHOX2B were set to
Fetal anomalies v0.3807 PRG4 Zornitza Stark Publications for gene: PRG4 were set to
Fetal anomalies v0.3805 PIEZO1 Zornitza Stark Publications for gene: PIEZO1 were set to 23695678; 30712880; 26333996; 28425981
Fetal anomalies v0.3803 PLOD2 Zornitza Stark Publications for gene: PLOD2 were set to
Fetal anomalies v0.3801 PLOD1 Zornitza Stark Publications for gene: PLOD1 were set to
Fetal anomalies v0.3796 TBC1D23 Zornitza Stark Publications for gene: TBC1D23 were set to
Fetal anomalies v0.3793 PITX2 Zornitza Stark Publications for gene: PITX2 were set to
Fetal anomalies v0.3788 PKD2 Zornitza Stark Publications for gene: PKD2 were set to
Fetal anomalies v0.3785 PKD1 Zornitza Stark Publications for gene: PKD1 were set to 23624871; 20558538
Fetal anomalies v0.3782 SMARCB1 Zornitza Stark Publications for gene: SMARCB1 were set to
Fetal anomalies v0.3780 TALDO1 Zornitza Stark Publications for gene: TALDO1 were set to
Fetal anomalies v0.3778 PLK4 Zornitza Stark Publications for gene: PLK4 were set to
Fetal anomalies v0.3776 SUCLG1 Zornitza Stark Publications for gene: SUCLG1 were set to 21093335
Fetal anomalies v0.3774 SRY Zornitza Stark Publications for gene: SRY were set to
Fetal anomalies v0.3770 TRPS1 Zornitza Stark Publications for gene: TRPS1 were set to
Fetal anomalies v0.3768 TBCE Zornitza Stark Phenotypes for gene: TBCE were changed from HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; KENNY-CAFFEY SYNDROME TYPE 1 to Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410; Kenny-Caffey syndrome, type 1, OMIM #244460; Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM #617207
Fetal anomalies v0.3767 TBCE Zornitza Stark Publications for gene: TBCE were set to
Fetal anomalies v0.3764 PEX7 Zornitza Stark Publications for gene: PEX7 were set to
Fetal anomalies v0.3762 RUNX2 Zornitza Stark Publications for gene: RUNX2 were set to
Fetal anomalies v0.3758 RTEL1 Zornitza Stark Publications for gene: RTEL1 were set to
Fetal anomalies v0.3756 TPO Krithika Murali gene: TPO was added
gene: TPO was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPO were set to 34220711; 30662777
Phenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A - MIM#274500
Review for gene: TPO was set to GREEN
Added comment: Well-established association with thyroid dyshormonogenesis. 3 affected individuals from 2 unrelated families reported with fetal goitre.

34220711 Rodrigues et al 2021 - report 2 siblings who were diagnosed with fetal goitre on antenatal ultrasound at 26 and 32 weeks gestation. Pathogenic compound het TPO variants identified inherited from unaffected carrier parents.

30662777 - report a proband diagnosed with fetal goitre at 29 weeks gestation. Compound heterozygous TPO variants identified.
Sources: Literature
Fetal anomalies v0.3755 RRM2B Zornitza Stark Publications for gene: RRM2B were set to
Fetal anomalies v0.3752 RPS6KA3 Zornitza Stark Publications for gene: RPS6KA3 were set to
Fetal anomalies v0.3750 ROR2 Zornitza Stark Publications for gene: ROR2 were set to
Fetal anomalies v0.3748 RNASET2 Zornitza Stark Marked gene: RNASET2 as ready
Fetal anomalies v0.3748 RNASET2 Zornitza Stark Gene: rnaset2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3748 RNASET2 Zornitza Stark Phenotypes for gene: RNASET2 were changed from LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY to Leukoencephalopathy, cystic, without megalencephaly MIM#612951
Fetal anomalies v0.3747 RNASET2 Zornitza Stark Publications for gene: RNASET2 were set to
Fetal anomalies v0.3746 RNASET2 Zornitza Stark Classified gene: RNASET2 as Amber List (moderate evidence)
Fetal anomalies v0.3746 RNASET2 Zornitza Stark Gene: rnaset2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3744 RNASEH2C Zornitza Stark Publications for gene: RNASEH2C were set to
Fetal anomalies v0.3735 RNASEH2B Zornitza Stark Publications for gene: RNASEH2B were set to
Fetal anomalies v0.3733 RNASEH2A Zornitza Stark Publications for gene: RNASEH2A were set to
Fetal anomalies v0.3726 THRB Krithika Murali gene: THRB was added
gene: THRB was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: THRB was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: THRB were set to 35130567; 30430796; 30074255; 28938413; 4163616
Phenotypes for gene: THRB were set to Thyroid hormone resistance, autosomal recessive - MIM#274300; Thyroid hormone resistance - MIM#188570; Thyroid hormone resistance, selective pituitary - MIM#145650
Review for gene: THRB was set to GREEN
Added comment: Biallelic variants associated with thyroid hormone resistance. PMID 4163616 first reported this condition in a consanguineous Mexican family with congenital deafness, goitre and stippled epiphyses. Diagnosis was made incidentally at a later age but possibility of goitre being detected antenatally. SGA also reported but this is generally in the context of having a mother also affected by thyroid hormone resistance secondary to biallelic or monoallelic variants.
Sources: Literature
Fetal anomalies v0.3725 PHF6 Chirag Patel reviewed gene: PHF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Borjeson-Forssman-Lehmann syndrome, OMIM # 301900; 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 v0.3722 TBL1X Krithika Murali gene: TBL1X was added
gene: TBL1X was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TBL1X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TBL1X were set to 30591955; 27603907
Phenotypes for gene: TBL1X were set to Hypothyroidism, congenital, nongoitrous, 8 - MIM#301033
Review for gene: TBL1X was set to AMBER
Added comment: Associated with central congenital hypothyroidism. Antenatal phenotype not reported. Thyroid hypoplasia has been noted in affected individuals. Generally diagnosed after newborn screening or later in childhood.
Sources: Literature
Fetal anomalies v0.3722 TG Krithika Murali gene: TG was added
gene: TG was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TG were set to 33832185; 19169491; 28620499; 18631008; 12915634
Phenotypes for gene: TG were set to Thyroid dyshormonogenesis 3 - MIM#274700
Review for gene: TG was set to GREEN
Added comment: Well-established gene-disease association with congenital hypothyroidism and fetal goitre.
Sources: Literature
Fetal anomalies v0.3722 SLC5A5 Krithika Murali gene: SLC5A5 was added
gene: SLC5A5 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A5 were set to 34806438; 34726525; 33815280; 32805706; 31115276
Phenotypes for gene: SLC5A5 were set to Thyroid dyshormonogenesis 1 - MIM#274400
Review for gene: SLC5A5 was set to GREEN
Added comment: Biallelic variants associated with congenital hypothyroidism. PMID 32805706 Stoupa et al 2020 report an affected male with antenatal goitre diagnosed at 25 weeks gestation and treated with intraamniotic levothyroxine injections.
Sources: Literature
Fetal anomalies v0.3721 SLC26A7 Krithika Murali gene: SLC26A7 was added
gene: SLC26A7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SLC26A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A7 were set to 34780050; 32486989; 31372509; 30333321; 29546359
Phenotypes for gene: SLC26A7 were set to Thyroid dyshormogenesis - no OMIM gene disease association
Review for gene: SLC26A7 was set to GREEN
Added comment: Biallelic variants associated with congenital hypothyroidism secondary to thyroid dyshormogenesis. PMID 32486989 report an affected female diagnosed with goitre D4 of life.
Sources: Literature
Fetal anomalies v0.3721 SLC26A4 Krithika Murali gene: SLC26A4 was added
gene: SLC26A4 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A4 were set to Pendred syndrome - MIM#274600
Review for gene: SLC26A4 was set to AMBER
Added comment: Known association with congenital hypothyroidism and bilateral sensorineural hearing loss. If goitre present, manifests later in childhood. No antenatal phenotype reported.
Sources: Literature
Fetal anomalies v0.3721 PROP1 Krithika Murali gene: PROP1 was added
gene: PROP1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PROP1 were set to 15941866; 11549703; 20301521; 32415500
Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2- #262600
Review for gene: PROP1 was set to AMBER
Added comment: Biallelic variants associated with panhypopituitarism. Features include central congenital hypothyroidism and hypogonadotrophic hypogonadism including micropenis. Diagnosed postnatally in infancy or early childhood due to growth failure and failure to thrive. Antenatal diagnosis not reported, although severe micropenis due to other disorders has been detected antenatally.
Sources: Literature
Fetal anomalies v0.3721 RPS6KA3 Ain Roesley reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301520; Phenotypes: Coffin-Lowry syndrome MIM#303600, Intellectual developmental disorder, X-linked 19 MIM#300844; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Fetal anomalies v0.3721 RNASET2 Ain Roesley reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31349848, 19525954, 27091087, 29336640, 18545798, 15851732; Phenotypes: Leukoencephalopathy, cystic, without megalencephaly MIM#612951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3720 KMT2E Zornitza Stark Publications for gene: KMT2E were set to
Fetal anomalies v0.3718 KMT2E Zornitza Stark changed review comment from: 38 individuals from 36 families reported. Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. Additional common features include autism, macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. The four individuals with missense variants presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E postulated to explain this divergence in phenotype.; to: Micro/macrocephaly reported, see below, age of onset uncertain. Non-specific brain abnormalities also.

38 individuals from 36 families reported. Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. Additional common features include autism, macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. The four individuals with missense variants presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E postulated to explain this divergence in phenotype.
Fetal anomalies v0.3717 KCNQ3 Zornitza Stark Publications for gene: KCNQ3 were set to
Fetal anomalies v0.3714 KCNQ1 Zornitza Stark Publications for gene: KCNQ1 were set to
Fetal anomalies v0.3710 KARS Zornitza Stark Publications for gene: KARS were set to
Fetal anomalies v0.3709 NKX2-1 Krithika Murali gene: NKX2-1 was added
gene: NKX2-1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NKX2-1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX2-1 were set to 23911641; 11854319; 24714694
Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress - MIM#610978
Review for gene: NKX2-1 was set to GREEN
Added comment: Heterozygous variants associated with congenital hypothyroidism, choreathetosis with or without pulmonary dysfunction. Allelic disorder to benign hereditary chorea (118700), which is less severe. Hypoplasia of the thyroid reported in some individuals. OMIM also reports septal heart defects noted in some patients.
Sources: Literature
Fetal anomalies v0.3709 IYD Krithika Murali gene: IYD was added
gene: IYD was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: IYD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IYD were set to 18434651; 18765512; 838849; 14169503
Phenotypes for gene: IYD were set to Thyroid dyshormonogenesis 4 - MIM#274800
Review for gene: IYD was set to GREEN
Added comment: Known association with congenital hypothyroidism secondary to thyroid dyshormonogenesis. Although antenatal diagnosis not reported, goitre known phenotypic feature.
Sources: Literature
Fetal anomalies v0.3709 IRS4 Krithika Murali gene: IRS4 was added
gene: IRS4 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: IRS4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IRS4 were set to 34566885; 34225927; 34093435; 33107432; 30061370
Phenotypes for gene: IRS4 were set to Hypothyroidism, congenital, nongoitrous, 9- MIM#301035
Review for gene: IRS4 was set to RED
Added comment: Associated with isolated central congenital hypothyroidism (insufficient pituitary TSH production). Postnatal diagnosis with no prenatal features reported.
Sources: Literature
Fetal anomalies v0.3709 DUOXA2 Krithika Murali gene: DUOXA2 was added
gene: DUOXA2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DUOXA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DUOXA2 were set to Thyroid dyshormonogenesis 5, MIM# 274900
Review for gene: DUOXA2 was set to GREEN
Added comment: Well-established gene disease association with congenital hypothyroidism
Sources: Literature
Fetal anomalies v0.3709 DUOXA1 Krithika Murali gene: DUOXA1 was added
gene: DUOXA1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DUOXA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DUOXA1 were set to 31428054; 29650690
Phenotypes for gene: DUOXA1 were set to congenital hypothyroidism, No OMIM #
Review for gene: DUOXA1 was set to AMBER
Added comment: No new publications since last PanelApp review Feb 2021

--

12 cases, but digenic model with variants in other genes
Sources: Literature
Fetal anomalies v0.3709 DUOX2 Krithika Murali gene: DUOX2 was added
gene: DUOX2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DUOX2 were set to 33692749; 34019632; 34341225; 16134168
Phenotypes for gene: DUOX2 were set to Thyroid dyshormonogenesis 6 - MIM#607200
Review for gene: DUOX2 was set to GREEN
Added comment: Well-established gene disease association with congenital hypothyroidism.
Sources: Literature
Fetal anomalies v0.3709 DUOX1 Krithika Murali gene: DUOX1 was added
gene: DUOX1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DUOX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DUOX1 were set to 29650690; 34019632
Phenotypes for gene: DUOX1 were set to congenital hypothyroidism, No OMIM #
Review for gene: DUOX1 was set to AMBER
Added comment: Gene reviewed for PanelApp in Feb 2021 - "11 cases, but digenic model, with variants in other genes". No further case reports published since. PMID 34019632 provide evidence of recapitulation of congenital hypothyroidism phenotype in duox mutant zebrafish.
Sources: Literature
Fetal anomalies v0.3709 CDCA8 Krithika Murali gene: CDCA8 was added
gene: CDCA8 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CDCA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDCA8 were set to 28025328; 29546359
Phenotypes for gene: CDCA8 were set to Congenital hypothyroidism, thyroid dysgenesis, no OMIM #
Review for gene: CDCA8 was set to GREEN
Added comment: Gene associated with congenital hypothyroidism secondary to thyroid dysgenesis. No new publications since last PanelApp review Feb 2021

---

4 families (1 with bilallelic variants [parent affected as HTZ], 3 with monoallelic variants) with functional evidence of variants. GREEN for mono allelic, RED for biallelic.
Sources: Literature
Fetal anomalies v0.3709 NPRL3 Krithika Murali gene: NPRL3 was added
gene: NPRL3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NPRL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NPRL3 were set to 27173016; 26285051; 33461085
Phenotypes for gene: NPRL3 were set to Epilepsy, familial focal, with variable foci 3- MIM#617118
Review for gene: NPRL3 was set to GREEN
Added comment: Known association with focal epilepsy (variable penetrance) with focal cortical dysplasia being a reported feature. FCD has the potential to be detected prenatally.
Sources: Literature
Fetal anomalies v0.3709 NPRL2 Krithika Murali gene: NPRL2 was added
gene: NPRL2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NPRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NPRL2 were set to 29281825; 27173016; 31625153; 33461085; 22268191
Phenotypes for gene: NPRL2 were set to Epilepsy, familial focal, with variable foci 2 - MIM#617116
Review for gene: NPRL2 was set to GREEN
Added comment: Heterozygous NPRL2 variants associated with focal epilepsy of variable severity. Incomplete penetrance also a known feature. Probands from 3 unrelated families noted to have focal cortical dysplasia which has the potential to be detected prenatally.
Sources: Literature
Fetal anomalies v0.3707 IQSEC2 Zornitza Stark Publications for gene: IQSEC2 were set to
Fetal anomalies v0.3705 HYDIN Zornitza Stark Publications for gene: HYDIN were set to 30712880
Fetal anomalies v0.3703 HNRNPU Zornitza Stark Publications for gene: HNRNPU were set to
Fetal anomalies v0.3700 HECW2 Zornitza Stark Publications for gene: HECW2 were set to
Fetal anomalies v0.3696 HDAC4 Zornitza Stark Publications for gene: HDAC4 were set to
Fetal anomalies v0.3691 HACE1 Zornitza Stark Publications for gene: HACE1 were set to
Fetal anomalies v0.3688 H3F3A Zornitza Stark Publications for gene: H3F3A were set to
Fetal anomalies v0.3684 GRIN2A Zornitza Stark Publications for gene: GRIN2A were set to
Fetal anomalies v0.3680 GRIK2 Zornitza Stark Publications for gene: GRIK2 were set to
Fetal anomalies v0.3676 GRIA3 Zornitza Stark Publications for gene: GRIA3 were set to
Fetal anomalies v0.3673 GMPPA Zornitza Stark Publications for gene: GMPPA were set to
Fetal anomalies v0.3669 GHR Zornitza Stark Publications for gene: GHR were set to
Fetal anomalies v0.3665 DDOST Zornitza Stark Publications for gene: DDOST were set to
Fetal anomalies v0.3663 CSTB Zornitza Stark Publications for gene: CSTB were set to
Fetal anomalies v0.3662 CSTB Zornitza Stark changed review comment from: Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. Not appropriate for the ID panel.; to: Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. Not appropriate for the Fetal Anomalies panel.
Fetal anomalies v0.3661 GATM Zornitza Stark Publications for gene: GATM were set to
Fetal anomalies v0.3659 GATAD2B Zornitza Stark Publications for gene: GATAD2B were set to
Fetal anomalies v0.3655 MYH6 Zornitza Stark Publications for gene: MYH6 were set to
Fetal anomalies v0.3653 GAS8 Zornitza Stark Publications for gene: GAS8 were set to 30166424
Fetal anomalies v0.3650 GABRB3 Zornitza Stark Publications for gene: GABRB3 were set to
Fetal anomalies v0.3647 FTSJ1 Zornitza Stark Publications for gene: FTSJ1 were set to
Fetal anomalies v0.3645 FOXP1 Zornitza Stark Publications for gene: FOXP1 were set to
Fetal anomalies v0.3642 FLVCR1 Zornitza Stark changed review comment from: progressive neurological condition, ID is not really part of the phenotype.; to: progressive neurological condition, postnatal onset.
Fetal anomalies v0.3641 FGF12 Zornitza Stark Publications for gene: FGF12 were set to
Fetal anomalies v0.3638 FBXO11 Zornitza Stark Publications for gene: FBXO11 were set to 30057029
Fetal anomalies v0.3633 ERCC6L2 Zornitza Stark Publications for gene: ERCC6L2 were set to
Fetal anomalies v0.3629 ENPP1 Zornitza Stark Publications for gene: ENPP1 were set to
Fetal anomalies v0.3625 DUSP6 Zornitza Stark Publications for gene: DUSP6 were set to
Fetal anomalies v0.3622 DMP1 Zornitza Stark Publications for gene: DMP1 were set to
Fetal anomalies v0.3620 DLG3 Zornitza Stark Publications for gene: DLG3 were set to
Fetal anomalies v0.3618 DLAT Zornitza Stark Publications for gene: DLAT were set to
Fetal anomalies v0.3616 DEAF1 Zornitza Stark Publications for gene: DEAF1 were set to
Fetal anomalies v0.3612 ST3GAL5 Zornitza Stark Publications for gene: ST3GAL5 were set to
Fetal anomalies v0.3610 ST3GAL5 Zornitza Stark changed review comment from: Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterised by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss. Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood. Although initially reported in the Amish (founder variant p.Arg288Ter), families from other ethnicities have also been reported.; to: Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterised by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss. Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood. Although initially reported in the Amish (founder variant p.Arg288Ter), families from other ethnicities have also been reported.

Clinical presentation is typically post-natal.
Fetal anomalies v0.3609 RSPRY1 Zornitza Stark Publications for gene: RSPRY1 were set to
Fetal anomalies v0.3607 RSPH9 Zornitza Stark Publications for gene: RSPH9 were set to
Fetal anomalies v0.3605 RSPH4A Zornitza Stark Publications for gene: RSPH4A were set to
Fetal anomalies v0.3603 RRAS2 Zornitza Stark Publications for gene: RRAS2 were set to
Fetal anomalies v0.3599 RRAS Zornitza Stark Publications for gene: RRAS were set to
Fetal anomalies v0.3597 RPS7 Zornitza Stark Publications for gene: RPS7 were set to
Fetal anomalies v0.3591 RPS23 Zornitza Stark Publications for gene: RPS23 were set to
Fetal anomalies v0.3586 MYH3 Alison Yeung Publications for gene: MYH3 were set to
Fetal anomalies v0.3585 RPL35A Zornitza Stark Publications for gene: RPL35A were set to
Fetal anomalies v0.3582 RPL10 Zornitza Stark Publications for gene: RPL10 were set to
Fetal anomalies v0.3579 RORA Zornitza Stark Publications for gene: RORA were set to
Fetal anomalies v0.3575 ROBO3 Zornitza Stark Publications for gene: ROBO3 were set to
Fetal anomalies v0.3572 RMND1 Zornitza Stark Publications for gene: RMND1 were set to
Fetal anomalies v0.3569 RLIM Zornitza Stark Publications for gene: RLIM were set to
Fetal anomalies v0.3566 RIN2 Zornitza Stark Publications for gene: RIN2 were set to
Fetal anomalies v0.3564 RFT1 Zornitza Stark Publications for gene: RFT1 were set to
Fetal anomalies v0.3563 RFT1 Zornitza Stark changed review comment from: Bi-allelic variants are associated with DD/ID, seizures, deafness. More than 10 unrelated families reported.; to: Bi-allelic variants are associated with DD/ID, seizures, deafness. More than 10 unrelated families reported.

Clinical presentation is typically post-natal, though age of onset of microcephaly is uncertain.
Fetal anomalies v0.3563 RBM10 Zornitza Stark Publications for gene: RBM10 were set to
Fetal anomalies v0.3560 RBBP8 Zornitza Stark Publications for gene: RBBP8 were set to
Fetal anomalies v0.3557 RAD51C Zornitza Stark Publications for gene: RAD51C were set to
Fetal anomalies v0.3554 RAD51 Zornitza Stark Publications for gene: RAD51 were set to