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Prepair 1000+ v3.0 PKD1L1 Gene migrated from ENSG00000158683 to ENSG00000158683 (gene set migration)
Prepair 1000+ v3.0 FAM161A Gene migrated from ENSG00000170264 to ENSG00000170264 (gene set migration)
Prepair 1000+ v3.0 CD81 Gene migrated from ENSG00000110651 to ENSG00000110651 (gene set migration)
Prepair 1000+ v3.0 PRICKLE1 Gene migrated from ENSG00000139174 to ENSG00000139174 (gene set migration)
Prepair 1000+ v3.0 VPS13A Gene migrated from ENSG00000197969 to ENSG00000197969 (gene set migration)
Prepair 1000+ v3.0 VPS37A Gene migrated from ENSG00000155975 to ENSG00000155975 (gene set migration)
Prepair 1000+ v3.0 VKORC1 Gene migrated from ENSG00000167397 to ENSG00000167397 (gene set migration)
Prepair 1000+ v3.0 LCAT Gene migrated from ENSG00000213398 to ENSG00000213398 (gene set migration)
Prepair 1000+ v3.0 FTCD Gene migrated from ENSG00000160282 to ENSG00000160282 (gene set migration)
Prepair 1000+ v3.0 GNE Gene migrated from ENSG00000159921 to ENSG00000159921 (gene set migration)
Prepair 1000+ v3.0 TSPAN7 Gene migrated from ENSG00000156298 to ENSG00000156298 (gene set migration)
Prepair 1000+ v3.0 OCA2 Gene migrated from ENSG00000104044 to ENSG00000104044 (gene set migration)
Prepair 1000+ v3.0 GPR143 Gene migrated from ENSG00000101850 to ENSG00000101850 (gene set migration)
Prepair 1000+ v3.0 CTSF Gene migrated from ENSG00000174080 to ENSG00000174080 (gene set migration)
Prepair 1000+ v3.0 SNORD118 Gene migrated from ENSG00000200463 to ENSG00000200463 (gene set migration)
Prepair 1000+ v3.0 AMN Gene migrated from ENSG00000166126 to ENSG00000166126 (gene set migration)
Prepair 1000+ v3.0 MCM4 Gene migrated from ENSG00000104738 to ENSG00000104738 (gene set migration)
Prepair 1000+ v3.0 LDHB Gene migrated from ENSG00000111716 to ENSG00000111716 (gene set migration)
Prepair 1000+ v3.0 SGO1 Gene migrated from ENSG00000129810 to ENSG00000129810 (gene set migration)
Prepair 1000+ v3.0 KRT85 Gene migrated from ENSG00000135443 to ENSG00000135443 (gene set migration)
Prepair 1000+ v3.0 C7 Gene migrated from ENSG00000112936 to ENSG00000112936 (gene set migration)
Prepair 1000+ v3.0 C6 Gene migrated from ENSG00000039537 to ENSG00000039537 (gene set migration)
Prepair 1000+ v3.0 OAT Gene migrated from ENSG00000065154 to ENSG00000065154 (gene set migration)
Prepair 1000+ v3.0 HBA1 Gene migrated from ENSG00000206172 to ENSG00000206172 (gene set migration)
Prepair 1000+ v3.0 F9 Gene migrated from ENSG00000101981 to ENSG00000101981 (gene set migration)
Prepair 1000+ v3.0 F8 Gene migrated from ENSG00000185010 to ENSG00000185010 (gene set migration)
Prepair 1000+ v3.0 RS1 Gene migrated from ENSG00000102104 to ENSG00000102104 (gene set migration)
Prepair 1000+ v3.0 CIB2 Gene migrated from ENSG00000136425 to ENSG00000136425 (gene set migration)
Prepair 1000+ v3.0 EMG1 Gene migrated from ENSG00000126749 to ENSG00000126749 (gene set migration)
Prepair 1000+ v3.0 SAMD9 Gene migrated from ENSG00000205413 to ENSG00000205413 (gene set migration)
Prepair 1000+ v3.0 UQCRQ Gene migrated from ENSG00000164405 to ENSG00000164405 (gene set migration)
Prepair 1000+ v3.0 LIPC Gene migrated from ENSG00000166035 to ENSG00000166035 (gene set migration)
Prepair 1000+ v3.0 ACSF3 Gene migrated from ENSG00000176715 to ENSG00000176715 (gene set migration)
Prepair 1000+ v3.0 DSTYK Gene migrated from ENSG00000133059 to ENSG00000133059 (gene set migration)
Prepair 1000+ v3.0 IGFBP7 Gene migrated from ENSG00000163453 to ENSG00000163453 (gene set migration)
Prepair 1000+ v3.0 CHM Gene migrated from ENSG00000188419 to ENSG00000188419 (gene set migration)
Prepair 1000+ v3.0 TUBA8 Gene migrated from ENSG00000183785 to ENSG00000183785 (gene set migration)
Prepair 1000+ v3.0 UPB1 Gene migrated from ENSG00000100024 to ENSG00000100024 (gene set migration)
Prepair 1000+ v3.0 TNFRSF13B Gene migrated from ENSG00000240505 to ENSG00000240505 (gene set migration)
Prepair 1000+ v3.0 NDUFA11 Gene migrated from ENSG00000174886 to ENSG00000174886 (gene set migration)
Prepair 1000+ v3.0 ALG2 Gene migrated from ENSG00000119523 to ENSG00000119523 (gene set migration)
Prepair 1000+ v3.0 KRT8 Gene migrated from ENSG00000170421 to ENSG00000170421 (gene set migration)
Prepair 1000+ v3.0 NR2E3 Gene migrated from ENSG00000278570 to ENSG00000278570 (gene set migration)
Prepair 1000+ v3.0 WNT10A Gene migrated from ENSG00000135925 to ENSG00000135925 (gene set migration)
Prepair 1000+ v3.0 SLC26A4 Gene migrated from ENSG00000091137 to ENSG00000091137 (gene set migration)
Prepair 1000+ v3.0 MCCC2 Gene migrated from ENSG00000131844 to ENSG00000131844 (gene set migration)
Prepair 1000+ v3.0 HOGA1 Gene migrated from ENSG00000241935 to ENSG00000241935 (gene set migration)
Prepair 1000+ v3.0 MCCC1 Gene migrated from ENSG00000078070 to ENSG00000078070 (gene set migration)
Prepair 1000+ v3.0 LOXHD1 Gene migrated from ENSG00000167210 to ENSG00000167210 (gene set migration)
Prepair 1000+ v3.0 HYAL1 Gene migrated from ENSG00000114378 to ENSG00000114378 (gene set migration)
Prepair 1000+ v3.0 HGD Gene migrated from ENSG00000113924 to ENSG00000113924 (gene set migration)
Prepair 1000+ v3.0 HFE Gene migrated from ENSG00000010704 to ENSG00000010704 (gene set migration)
Prepair 1000+ v3.0 GJB2 Gene migrated from ENSG00000165474 to ENSG00000165474 (gene set migration)
Prepair 1000+ v3.0 PDE6B Gene migrated from ENSG00000133256 to ENSG00000133256 (gene set migration)
Prepair 1000+ v3.0 BRIP1 Gene migrated from ENSG00000136492 to ENSG00000136492 (gene set migration)
Prepair 1000+ v3.0 GK Gene migrated from ENSG00000198814 to ENSG00000198814 (gene set migration)
Prepair 1000+ v3.0 POLR1D Gene migrated from ENSG00000186184 to ENSG00000186184 (gene set migration)
Prepair 1000+ v3.0 ABCC6 Gene migrated from ENSG00000091262 to ENSG00000091262 (gene set migration)
Prepair 1000+ v3.0 GRHPR Gene migrated from ENSG00000137106 to ENSG00000137106 (gene set migration)
Prepair 1000+ v3.0 ABCA4 Gene migrated from ENSG00000198691 to ENSG00000198691 (gene set migration)
Prepair 1000+ v3.0 GYS2 Gene migrated from ENSG00000111713 to ENSG00000111713 (gene set migration)
Prepair 1000+ v3.0 NUP62 Gene migrated from ENSG00000213024 to ENSG00000213024 (gene set migration)
Prepair 1000+ v3.0 TBX22 Gene migrated from ENSG00000122145 to ENSG00000122145 (gene set migration)
Prepair 1000+ v3.0 KCNE1 Gene migrated from ENSG00000180509 to ENSG00000180509 (gene set migration)
Prepair 1000+ v3.0 NLGN4X Gene migrated from ENSG00000146938 to ENSG00000146938 (gene set migration)
Prepair 1000+ v3.0 C8B Gene migrated from ENSG00000021852 to ENSG00000021852 (gene set migration)
Prepair 1000+ v3.0 OPN1LW Gene migrated from ENSG00000102076 to ENSG00000102076 (gene set migration)
Prepair 1000+ v3.0 TFR2 Gene migrated from ENSG00000106327 to ENSG00000106327 (gene set migration)
Prepair 1000+ v3.0 COL2A1 Gene migrated from ENSG00000139219 to ENSG00000139219 (gene set migration)
Prepair 1000+ v3.0 SERPINA1 Gene migrated from ENSG00000197249 to ENSG00000197249 (gene set migration)
Prepair 1000+ v3.0 HBA2 Gene migrated from ENSG00000188536 to ENSG00000188536 (gene set migration)
Prepair 1000+ v3.0 PYGM Gene migrated from ENSG00000068976 to ENSG00000068976 (gene set migration)
Prepair 1000+ v3.0 GP1BA Gene migrated from ENSG00000185245 to ENSG00000185245 (gene set migration)
Prepair 1000+ v3.0 SLC12A3 Gene migrated from ENSG00000070915 to ENSG00000070915 (gene set migration)
Prepair 1000+ v3.0 GP9 Gene migrated from ENSG00000169704 to ENSG00000169704 (gene set migration)
Prepair 1000+ v3.0 SEMA4A Gene migrated from ENSG00000196189 to ENSG00000196189 (gene set migration)
Prepair 1000+ v3.0 MEFV Gene migrated from ENSG00000103313 to ENSG00000103313 (gene set migration)
Prepair 1000+ v3.0 GALK1 Gene migrated from ENSG00000108479 to ENSG00000108479 (gene set migration)
Prepair 1000+ v3.0 G6PD Gene migrated from ENSG00000160211 to ENSG00000160211 (gene set migration)
Prepair 1000+ v3.0 EYS Gene migrated from ENSG00000188107 to ENSG00000188107 (gene set migration)
Prepair 1000+ v3.0 CYP21A2 Gene migrated from ENSG00000231852 to ENSG00000231852 (gene set migration)
Prepair 1000+ v3.0 SLC4A11 Gene migrated from ENSG00000088836 to ENSG00000088836 (gene set migration)
Prepair 1000+ v3.0 TRAC Gene migrated from ENSG00000277734 to ENSG00000277734 (gene set migration)
Prepair 1000+ v3.0 CARD9 Gene migrated from ENSG00000187796 to ENSG00000187796 (gene set migration)
Prepair 1000+ v3.0 SEC23A Gene migrated from ENSG00000100934 to ENSG00000100934 (gene set migration)
Prepair 1000+ v3.0 F11 Gene migrated from ENSG00000088926 to ENSG00000088926 (gene set migration)
Prepair 1000+ v3.0 RPGR Gene migrated from ENSG00000156313 to ENSG00000156313 (gene set migration)
Prepair 1000+ v3.0 LRSAM1 Gene migrated from ENSG00000148356 to ENSG00000148356 (gene set migration)
Prepair 1000+ v3.0 RBM8A Gene migrated from ENSG00000265241 to ENSG00000265241 (gene set migration)
Prepair 1000+ v3.0 CLN3 Gene migrated from ENSG00000188603 to ENSG00000188603 (gene set migration)
Prepair 1000+ v3.0 CBS Gene migrated from ENSG00000160200 to ENSG00000160200 (gene set migration)
Prepair 1000+ v3.0 PIP5K1C Gene migrated from ENSG00000186111 to ENSG00000186111 (gene set migration)
Prepair 1000+ v3.0 AIRE Gene migrated from ENSG00000160224 to ENSG00000160224 (gene set migration)
Prepair 1000+ v3.0 CERKL Gene migrated from ENSG00000188452 to ENSG00000188452 (gene set migration)
Prepair 1000+ v3.0 SHOX Gene migrated from ENSG00000185960 to ENSG00000185960 (gene set migration)
Prepair 1000+ v3.0 BTD Gene migrated from ENSG00000169814 to ENSG00000169814 (gene set migration)
Prepair 1000+ v3.0 IGHM Gene migrated from ENSG00000211899 to ENSG00000211899 (gene set migration)
Prepair 1000+ v3.0 F5 Gene migrated from ENSG00000198734 to ENSG00000198734 (gene set migration)
Prepair 1000+ v3.0 CNGA3 Gene migrated from ENSG00000144191 to ENSG00000144191 (gene set migration)
Prepair 1000+ v3.0 VWF Gene migrated from ENSG00000110799 to ENSG00000110799 (gene set migration)
Prepair 1000+ v3.0 NCF1 Gene migrated from ENSG00000158517 to ENSG00000158517 (gene set migration)
Prepair 1000+ v3.0 RCBTB1 Gene migrated from ENSG00000136144 to ENSG00000136144 (gene set migration)
Prepair 1000+ v3.0 RARB Gene migrated from ENSG00000077092 to ENSG00000077092 (gene set migration)
Prepair 1000+ v3.0 IKBKG Gene migrated from ENSG00000269335 to ENSG00000269335 (gene set migration)
Prepair 1000+ v3.0 AFF2 Gene migrated from ENSG00000155966 to ENSG00000155966 (gene set migration)
Prepair 1000+ v3.0 SLC9A3 Gene migrated from ENSG00000066230 to ENSG00000066230 (gene set migration)
Prepair 1000+ v3.0 UQCRC2 Gene migrated from ENSG00000140740 to ENSG00000140740 (gene set migration)
Prepair 1000+ v3.0 GBA1 Gene symbol changed from GBA to GBA1 during gene set migration (ENSG00000177628 -> ENSG00000177628)
Prepair 1000+ v3.0 CSTB Gene migrated from ENSG00000160213 to ENSG00000160213 (gene set migration)
Prepair 1000+ v3.0 KCNV2 Gene migrated from ENSG00000168263 to ENSG00000168263 (gene set migration)
Prepair 1000+ v3.0 ITK Gene migrated from ENSG00000113263 to ENSG00000113263 (gene set migration)
Prepair 1000+ v3.0 IFT172 Gene migrated from ENSG00000138002 to ENSG00000138002 (gene set migration)
Prepair 1000+ v3.0 INPP5K Gene migrated from ENSG00000132376 to ENSG00000132376 (gene set migration)
Prepair 1000+ v3.0 HSD3B7 Gene migrated from ENSG00000099377 to ENSG00000099377 (gene set migration)
Prepair 1000+ v3.0 IBA57 Gene migrated from ENSG00000181873 to ENSG00000181873 (gene set migration)
Prepair 1000+ v3.0 HPS3 Gene migrated from ENSG00000163755 to ENSG00000163755 (gene set migration)
Prepair 1000+ v3.0 STRA6 Gene migrated from ENSG00000137868 to ENSG00000137868 (gene set migration)
Prepair 1000+ v3.0 TRPM6 Gene migrated from ENSG00000119121 to ENSG00000119121 (gene set migration)
Prepair 1000+ v3.0 TTI2 Gene migrated from ENSG00000129696 to ENSG00000129696 (gene set migration)
Prepair 1000+ v3.0 VARS1 Gene symbol changed from VARS to VARS1 during gene set migration (ENSG00000204394 -> ENSG00000204394)
Prepair 1000+ v3.0 CSPP1 Gene migrated from ENSG00000104218 to ENSG00000104218 (gene set migration)
Prepair 1000+ v3.0 DNAH5 Gene migrated from ENSG00000039139 to ENSG00000039139 (gene set migration)
Prepair 1000+ v3.0 PIGN Gene migrated from ENSG00000197563 to ENSG00000197563 (gene set migration)
Prepair 1000+ v3.0 TRIT1 Gene migrated from ENSG00000043514 to ENSG00000043514 (gene set migration)
Prepair 1000+ v3.0 PCDH15 Gene migrated from ENSG00000150275 to ENSG00000150275 (gene set migration)
Prepair 1000+ v3.0 TCIRG1 Gene migrated from ENSG00000110719 to ENSG00000110719 (gene set migration)
Prepair 1000+ v3.0 PGAP1 Gene migrated from ENSG00000197121 to ENSG00000197121 (gene set migration)
Prepair 1000+ v3.0 NEB Gene migrated from ENSG00000183091 to ENSG00000183091 (gene set migration)
Prepair 1000+ v3.0 VPS33B Gene migrated from ENSG00000184056 to ENSG00000184056 (gene set migration)
Prepair 1000+ v3.0 RAD50 Gene migrated from ENSG00000113522 to ENSG00000113522 (gene set migration)
Prepair 1000+ v3.0 SLC1A4 Gene migrated from ENSG00000115902 to ENSG00000115902 (gene set migration)
Prepair 1000+ v3.0 ABCB11 Gene migrated from ENSG00000073734 to ENSG00000073734 (gene set migration)
Prepair 1000+ v3.0 LMBR1 Gene migrated from ENSG00000105983 to ENSG00000105983 (gene set migration)
Prepair 1000+ v3.0 LAMC2 Gene migrated from ENSG00000058085 to ENSG00000058085 (gene set migration)
Prepair 1000+ v3.0 OTULIN Gene migrated from ENSG00000154124 to ENSG00000154124 (gene set migration)
Prepair 1000+ v3.0 PEX19 Gene migrated from ENSG00000162735 to ENSG00000162735 (gene set migration)
Prepair 1000+ v3.0 CASK Gene migrated from ENSG00000147044 to ENSG00000147044 (gene set migration)
Prepair 1000+ v3.0 VARS2 Gene migrated from ENSG00000137411 to ENSG00000137411 (gene set migration)
Prepair 1000+ v3.0 TYMP Gene migrated from ENSG00000025708 to ENSG00000025708 (gene set migration)
Prepair 1000+ v3.0 SKIC3 Gene symbol changed from TTC37 to SKIC3 during gene set migration (ENSG00000198677 -> ENSG00000198677)
Prepair 1000+ v3.0 TMEM231 Gene migrated from ENSG00000205084 to ENSG00000205084 (gene set migration)
Prepair 1000+ v3.0 TMEM165 Gene migrated from ENSG00000134851 to ENSG00000134851 (gene set migration)
Prepair 1000+ v3.0 TCN2 Gene migrated from ENSG00000185339 to ENSG00000185339 (gene set migration)
Prepair 1000+ v3.0 TBCK Gene migrated from ENSG00000145348 to ENSG00000145348 (gene set migration)
Prepair 1000+ v3.0 STRADA Gene migrated from ENSG00000266173 to ENSG00000266173 (gene set migration)
Prepair 1000+ v3.0 POLR3A Gene migrated from ENSG00000148606 to ENSG00000148606 (gene set migration)
Prepair 1000+ v3.0 USH2A Gene migrated from ENSG00000042781 to ENSG00000042781 (gene set migration)
Prepair 1000+ v3.0 SIL1 Gene migrated from ENSG00000120725 to ENSG00000120725 (gene set migration)
Prepair 1000+ v3.0 PLOD1 Gene migrated from ENSG00000083444 to ENSG00000083444 (gene set migration)
Prepair 1000+ v3.0 PLEC Gene migrated from ENSG00000178209 to ENSG00000178209 (gene set migration)
Prepair 1000+ v3.0 PEX12 Gene migrated from ENSG00000108733 to ENSG00000108733 (gene set migration)
Prepair 1000+ v3.0 PEPD Gene migrated from ENSG00000124299 to ENSG00000124299 (gene set migration)
Prepair 1000+ v3.0 P3H1 Gene migrated from ENSG00000117385 to ENSG00000117385 (gene set migration)
Prepair 1000+ v3.0 OTC Gene migrated from ENSG00000036473 to ENSG00000036473 (gene set migration)
Prepair 1000+ v3.0 OPHN1 Gene migrated from ENSG00000079482 to ENSG00000079482 (gene set migration)
Prepair 1000+ v3.0 NYX Gene migrated from ENSG00000188937 to ENSG00000188937 (gene set migration)
Prepair 1000+ v3.0 OFD1 Gene migrated from ENSG00000046651 to ENSG00000046651 (gene set migration)
Prepair 1000+ v3.0 NSUN2 Gene migrated from ENSG00000037474 to ENSG00000037474 (gene set migration)
Prepair 1000+ v3.0 LRP5 Gene migrated from ENSG00000162337 to ENSG00000162337 (gene set migration)
Prepair 1000+ v3.0 LRP2 Gene migrated from ENSG00000081479 to ENSG00000081479 (gene set migration)
Prepair 1000+ v3.0 LRIG2 Gene migrated from ENSG00000198799 to ENSG00000198799 (gene set migration)
Prepair 1000+ v3.0 LAMA3 Gene migrated from ENSG00000053747 to ENSG00000053747 (gene set migration)
Prepair 1000+ v3.0 LAMA1 Gene migrated from ENSG00000101680 to ENSG00000101680 (gene set migration)
Prepair 1000+ v3.0 KLHL40 Gene migrated from ENSG00000157119 to ENSG00000157119 (gene set migration)
Prepair 1000+ v3.0 LIPT1 Gene migrated from ENSG00000144182 to ENSG00000144182 (gene set migration)
Prepair 1000+ v3.0 IER3IP1 Gene migrated from ENSG00000134049 to ENSG00000134049 (gene set migration)
Prepair 1000+ v3.0 HADHA Gene migrated from ENSG00000084754 to ENSG00000084754 (gene set migration)
Prepair 1000+ v3.0 ERCC5 Gene migrated from ENSG00000134899 to ENSG00000134899 (gene set migration)
Prepair 1000+ v3.0 FAH Gene migrated from ENSG00000103876 to ENSG00000103876 (gene set migration)
Prepair 1000+ v3.0 FANCA Gene migrated from ENSG00000187741 to ENSG00000187741 (gene set migration)
Prepair 1000+ v3.0 FBP1 Gene migrated from ENSG00000165140 to ENSG00000165140 (gene set migration)
Prepair 1000+ v3.0 FERMT3 Gene migrated from ENSG00000149781 to ENSG00000149781 (gene set migration)
Prepair 1000+ v3.0 WRAP53 Gene migrated from ENSG00000141499 to ENSG00000141499 (gene set migration)
Prepair 1000+ v3.0 XPC Gene migrated from ENSG00000154767 to ENSG00000154767 (gene set migration)
Prepair 1000+ v3.0 XPNPEP3 Gene migrated from ENSG00000196236 to ENSG00000196236 (gene set migration)
Prepair 1000+ v3.0 DHCR24 Gene migrated from ENSG00000116133 to ENSG00000116133 (gene set migration)
Prepair 1000+ v3.0 DNAAF4 Gene migrated from ENSG00000256061 to ENSG00000256061 (gene set migration)
Prepair 1000+ v3.0 SKIC2 Gene symbol changed from SKIV2L to SKIC2 during gene set migration (ENSG00000204351 -> ENSG00000204351)
Prepair 1000+ v3.0 GAA Gene migrated from ENSG00000171298 to ENSG00000171298 (gene set migration)
Prepair 1000+ v3.0 GJC2 Gene migrated from ENSG00000198835 to ENSG00000198835 (gene set migration)
Prepair 1000+ v3.0 GPR179 Gene migrated from ENSG00000277399 to ENSG00000277399 (gene set migration)
Prepair 1000+ v3.0 GUCY2C Gene migrated from ENSG00000070019 to ENSG00000070019 (gene set migration)
Prepair 1000+ v3.0 LIPA Gene migrated from ENSG00000107798 to ENSG00000107798 (gene set migration)
Prepair 1000+ v3.0 ERCC6L2 Gene migrated from ENSG00000182150 to ENSG00000182150 (gene set migration)
Prepair 1000+ v3.0 TNNT1 Gene migrated from ENSG00000105048 to ENSG00000105048 (gene set migration)
Prepair 1000+ v3.0 APC2 Gene migrated from ENSG00000115266 to ENSG00000115266 (gene set migration)
Prepair 1000+ v3.0 SLC33A1 Gene migrated from ENSG00000169359 to ENSG00000169359 (gene set migration)
Prepair 1000+ v3.0 INSR Gene migrated from ENSG00000171105 to ENSG00000171105 (gene set migration)
Prepair 1000+ v3.0 SMPD1 Gene migrated from ENSG00000166311 to ENSG00000166311 (gene set migration)
Prepair 1000+ v3.0 PTPN23 Gene migrated from ENSG00000076201 to ENSG00000076201 (gene set migration)
Prepair 1000+ v3.0 CCN6 Gene symbol changed from WISP3 to CCN6 during gene set migration (ENSG00000112761 -> ENSG00000112761)
Prepair 1000+ v3.0 WDR81 Gene migrated from ENSG00000167716 to ENSG00000167716 (gene set migration)
Prepair 1000+ v3.0 XPA Gene migrated from ENSG00000136936 to ENSG00000136936 (gene set migration)
Prepair 1000+ v3.0 WRN Gene migrated from ENSG00000165392 to ENSG00000165392 (gene set migration)
Prepair 1000+ v3.0 VLDLR Gene migrated from ENSG00000147852 to ENSG00000147852 (gene set migration)
Prepair 1000+ v3.0 VPS11 Gene migrated from ENSG00000160695 to ENSG00000160695 (gene set migration)
Prepair 1000+ v3.0 UPF3B Gene migrated from ENSG00000125351 to ENSG00000125351 (gene set migration)
Prepair 1000+ v3.0 UNC13D Gene migrated from ENSG00000092929 to ENSG00000092929 (gene set migration)
Prepair 1000+ v3.0 UBR1 Gene migrated from ENSG00000159459 to ENSG00000159459 (gene set migration)
Prepair 1000+ v3.0 TYRP1 Gene migrated from ENSG00000107165 to ENSG00000107165 (gene set migration)
Prepair 1000+ v3.0 TRIM32 Gene migrated from ENSG00000119401 to ENSG00000119401 (gene set migration)
Prepair 1000+ v3.0 TRMU Gene migrated from ENSG00000100416 to ENSG00000100416 (gene set migration)
Prepair 1000+ v3.0 TF Gene migrated from ENSG00000091513 to ENSG00000091513 (gene set migration)
Prepair 1000+ v3.0 TH Gene migrated from ENSG00000180176 to ENSG00000180176 (gene set migration)
Prepair 1000+ v3.0 TK2 Gene migrated from ENSG00000166548 to ENSG00000166548 (gene set migration)
Prepair 1000+ v3.0 TAT Gene migrated from ENSG00000198650 to ENSG00000198650 (gene set migration)
Prepair 1000+ v3.0 IARS2 Gene migrated from ENSG00000067704 to ENSG00000067704 (gene set migration)
Prepair 1000+ v3.0 GALC Gene migrated from ENSG00000054983 to ENSG00000054983 (gene set migration)
Prepair 1000+ v3.0 STAR Gene migrated from ENSG00000147465 to ENSG00000147465 (gene set migration)
Prepair 1000+ v3.0 SPR Gene migrated from ENSG00000116096 to ENSG00000116096 (gene set migration)
Prepair 1000+ v3.0 SLC45A2 Gene migrated from ENSG00000164175 to ENSG00000164175 (gene set migration)
Prepair 1000+ v3.0 SLC6A5 Gene migrated from ENSG00000165970 to ENSG00000165970 (gene set migration)
Prepair 1000+ v3.0 SLC52A3 Gene migrated from ENSG00000101276 to ENSG00000101276 (gene set migration)
Prepair 1000+ v3.0 LPIN1 Gene migrated from ENSG00000134324 to ENSG00000134324 (gene set migration)
Prepair 1000+ v3.0 SLC25A1 Gene migrated from ENSG00000100075 to ENSG00000100075 (gene set migration)
Prepair 1000+ v3.0 SLC16A2 Gene migrated from ENSG00000147100 to ENSG00000147100 (gene set migration)
Prepair 1000+ v3.0 SLC19A2 Gene migrated from ENSG00000117479 to ENSG00000117479 (gene set migration)
Prepair 1000+ v3.0 SLC19A3 Gene migrated from ENSG00000135917 to ENSG00000135917 (gene set migration)
Prepair 1000+ v3.0 SERAC1 Gene migrated from ENSG00000122335 to ENSG00000122335 (gene set migration)
Prepair 1000+ v3.0 RPS6KA3 Gene migrated from ENSG00000177189 to ENSG00000177189 (gene set migration)
Prepair 1000+ v3.0 RNASEH2C Gene migrated from ENSG00000172922 to ENSG00000172922 (gene set migration)
Prepair 1000+ v3.0 RMRP Gene migrated from ENSG00000269900 to ENSG00000277027 (gene set migration)
Prepair 1000+ v3.0 PUS1 Gene migrated from ENSG00000177192 to ENSG00000177192 (gene set migration)
Prepair 1000+ v3.0 RAB18 Gene migrated from ENSG00000099246 to ENSG00000099246 (gene set migration)
Prepair 1000+ v3.0 PROP1 Gene migrated from ENSG00000175325 to ENSG00000175325 (gene set migration)
Prepair 1000+ v3.0 POLG Gene migrated from ENSG00000140521 to ENSG00000140521 (gene set migration)
Prepair 1000+ v3.0 DPH1 Gene migrated from ENSG00000108963 to ENSG00000108963 (gene set migration)
Prepair 1000+ v3.0 PNKP Gene migrated from ENSG00000039650 to ENSG00000039650 (gene set migration)
Prepair 1000+ v3.0 L2HGDH Gene migrated from ENSG00000087299 to ENSG00000087299 (gene set migration)
Prepair 1000+ v3.0 PGK1 Gene migrated from ENSG00000102144 to ENSG00000102144 (gene set migration)
Prepair 1000+ v3.0 EIF2B5 Gene migrated from ENSG00000145191 to ENSG00000145191 (gene set migration)
Prepair 1000+ v3.0 PDHA1 Gene migrated from ENSG00000131828 to ENSG00000131828 (gene set migration)
Prepair 1000+ v3.0 PCCA Gene migrated from ENSG00000175198 to ENSG00000175198 (gene set migration)
Prepair 1000+ v3.0 PDHB Gene migrated from ENSG00000168291 to ENSG00000168291 (gene set migration)
Prepair 1000+ v3.0 PCDH19 Gene migrated from ENSG00000165194 to ENSG00000165194 (gene set migration)
Prepair 1000+ v3.0 ESCO2 Gene migrated from ENSG00000171320 to ENSG00000171320 (gene set migration)
Prepair 1000+ v3.0 OSGEP Gene migrated from ENSG00000092094 to ENSG00000092094 (gene set migration)
Prepair 1000+ v3.0 OPA1 Gene migrated from ENSG00000198836 to ENSG00000198836 (gene set migration)
Prepair 1000+ v3.0 NPHP3 Gene migrated from ENSG00000113971 to ENSG00000113971 (gene set migration)
Prepair 1000+ v3.0 NPC2 Gene migrated from ENSG00000119655 to ENSG00000119655 (gene set migration)
Prepair 1000+ v3.0 NPC1 Gene migrated from ENSG00000141458 to ENSG00000141458 (gene set migration)
Prepair 1000+ v3.0 PLOD2 Gene migrated from ENSG00000152952 to ENSG00000152952 (gene set migration)
Prepair 1000+ v3.0 NDUFS4 Gene migrated from ENSG00000164258 to ENSG00000164258 (gene set migration)
Prepair 1000+ v3.0 MMUT Gene symbol changed from MUT to MMUT during gene set migration (ENSG00000146085 -> ENSG00000146085)
Prepair 1000+ v3.0 GRM1 Gene migrated from ENSG00000152822 to ENSG00000152822 (gene set migration)
Prepair 1000+ v3.0 SLC17A5 Gene migrated from ENSG00000119899 to ENSG00000119899 (gene set migration)
Prepair 1000+ v3.0 MMADHC Gene migrated from ENSG00000168288 to ENSG00000168288 (gene set migration)
Prepair 1000+ v3.0 GTF2H5 Gene migrated from ENSG00000272047 to ENSG00000272047 (gene set migration)
Prepair 1000+ v3.0 GUCY1A1 Gene symbol changed from GUCY1A3 to GUCY1A1 during gene set migration (ENSG00000164116 -> ENSG00000164116)
Prepair 1000+ v3.0 LYST Gene migrated from ENSG00000143669 to ENSG00000143669 (gene set migration)
Prepair 1000+ v3.0 MANBA Gene migrated from ENSG00000109323 to ENSG00000109323 (gene set migration)
Prepair 1000+ v3.0 MAN2B1 Gene migrated from ENSG00000104774 to ENSG00000104774 (gene set migration)
Prepair 1000+ v3.0 LPL Gene migrated from ENSG00000175445 to ENSG00000175445 (gene set migration)
Prepair 1000+ v3.0 LMNA Gene migrated from ENSG00000160789 to ENSG00000160789 (gene set migration)
Prepair 1000+ v3.0 LIFR Gene migrated from ENSG00000113594 to ENSG00000113594 (gene set migration)
Prepair 1000+ v3.0 ATF6 Gene migrated from ENSG00000118217 to ENSG00000118217 (gene set migration)
Prepair 1000+ v3.0 LIG4 Gene migrated from ENSG00000174405 to ENSG00000174405 (gene set migration)
Prepair 1000+ v3.0 LAMB2 Gene migrated from ENSG00000172037 to ENSG00000172037 (gene set migration)
Prepair 1000+ v3.0 LAMB3 Gene migrated from ENSG00000196878 to ENSG00000196878 (gene set migration)
Prepair 1000+ v3.0 SLC26A2 Gene migrated from ENSG00000155850 to ENSG00000155850 (gene set migration)
Prepair 1000+ v3.0 LBR Gene migrated from ENSG00000143815 to ENSG00000143815 (gene set migration)
Prepair 1000+ v3.0 KIF7 Gene migrated from ENSG00000166813 to ENSG00000166813 (gene set migration)
Prepair 1000+ v3.0 KDM5C Gene migrated from ENSG00000126012 to ENSG00000126012 (gene set migration)
Prepair 1000+ v3.0 HCFC1 Gene migrated from ENSG00000172534 to ENSG00000172534 (gene set migration)
Prepair 1000+ v3.0 KCNJ11 Gene migrated from ENSG00000187486 to ENSG00000187486 (gene set migration)
Prepair 1000+ v3.0 IDUA Gene migrated from ENSG00000127415 to ENSG00000127415 (gene set migration)
Prepair 1000+ v3.0 HYLS1 Gene migrated from ENSG00000198331 to ENSG00000198331 (gene set migration)
Prepair 1000+ v3.0 BMPER Gene migrated from ENSG00000164619 to ENSG00000164619 (gene set migration)
Prepair 1000+ v3.0 HSD17B4 Gene migrated from ENSG00000133835 to ENSG00000133835 (gene set migration)
Prepair 1000+ v3.0 HSD3B2 Gene migrated from ENSG00000203859 to ENSG00000203859 (gene set migration)
Prepair 1000+ v3.0 HADH Gene migrated from ENSG00000138796 to ENSG00000138796 (gene set migration)
Prepair 1000+ v3.0 BCKDHA Gene migrated from ENSG00000248098 to ENSG00000248098 (gene set migration)
Prepair 1000+ v3.0 GSS Gene migrated from ENSG00000100983 to ENSG00000100983 (gene set migration)
Prepair 1000+ v3.0 GORAB Gene migrated from ENSG00000120370 to ENSG00000120370 (gene set migration)
Prepair 1000+ v3.0 GLDC Gene migrated from ENSG00000178445 to ENSG00000178445 (gene set migration)
Prepair 1000+ v3.0 GHR Gene migrated from ENSG00000112964 to ENSG00000112964 (gene set migration)
Prepair 1000+ v3.0 GLA Gene migrated from ENSG00000102393 to ENSG00000102393 (gene set migration)
Prepair 1000+ v3.0 GJB1 Gene migrated from ENSG00000169562 to ENSG00000169562 (gene set migration)
Prepair 1000+ v3.0 POLR1C Gene migrated from ENSG00000171453 to ENSG00000171453 (gene set migration)
Prepair 1000+ v3.0 CA2 Gene migrated from ENSG00000104267 to ENSG00000104267 (gene set migration)
Prepair 1000+ v3.0 GALT Gene migrated from ENSG00000213930 to ENSG00000213930 (gene set migration)
Prepair 1000+ v3.0 FBXO7 Gene migrated from ENSG00000100225 to ENSG00000100225 (gene set migration)
Prepair 1000+ v3.0 FH Gene migrated from ENSG00000091483 to ENSG00000091483 (gene set migration)
Prepair 1000+ v3.0 FANCI Gene migrated from ENSG00000140525 to ENSG00000140525 (gene set migration)
Prepair 1000+ v3.0 F2 Gene migrated from ENSG00000180210 to ENSG00000180210 (gene set migration)
Prepair 1000+ v3.0 PEX10 Gene migrated from ENSG00000157911 to ENSG00000157911 (gene set migration)
Prepair 1000+ v3.0 ETFA Gene migrated from ENSG00000140374 to ENSG00000140374 (gene set migration)
Prepair 1000+ v3.0 ETFB Gene migrated from ENSG00000105379 to ENSG00000105379 (gene set migration)
Prepair 1000+ v3.0 ERCC8 Gene migrated from ENSG00000049167 to ENSG00000049167 (gene set migration)
Prepair 1000+ v3.0 PDE6C Gene migrated from ENSG00000095464 to ENSG00000095464 (gene set migration)
Prepair 1000+ v3.0 DLL3 Gene migrated from ENSG00000090932 to ENSG00000090932 (gene set migration)
Prepair 1000+ v3.0 DIS3L2 Gene migrated from ENSG00000144535 to ENSG00000144535 (gene set migration)
Prepair 1000+ v3.0 DLD Gene migrated from ENSG00000091140 to ENSG00000091140 (gene set migration)
Prepair 1000+ v3.0 DGUOK Gene migrated from ENSG00000114956 to ENSG00000114956 (gene set migration)
Prepair 1000+ v3.0 DDC Gene migrated from ENSG00000132437 to ENSG00000132437 (gene set migration)
Prepair 1000+ v3.0 PEX16 Gene migrated from ENSG00000121680 to ENSG00000121680 (gene set migration)
Prepair 1000+ v3.0 IFT140 Gene migrated from ENSG00000187535 to ENSG00000187535 (gene set migration)
Prepair 1000+ v3.0 NEU1 Gene migrated from ENSG00000204386 to ENSG00000204386 (gene set migration)
Prepair 1000+ v3.0 CRTAP Gene migrated from ENSG00000170275 to ENSG00000170275 (gene set migration)
Prepair 1000+ v3.0 COX15 Gene migrated from ENSG00000014919 to ENSG00000014919 (gene set migration)
Prepair 1000+ v3.0 CPT1A Gene migrated from ENSG00000110090 to ENSG00000110090 (gene set migration)
Prepair 1000+ v3.0 CPS1 Gene migrated from ENSG00000021826 to ENSG00000021826 (gene set migration)
Prepair 1000+ v3.0 CLCN7 Gene migrated from ENSG00000103249 to ENSG00000103249 (gene set migration)
Prepair 1000+ v3.0 CLCN5 Gene migrated from ENSG00000171365 to ENSG00000171365 (gene set migration)
Prepair 1000+ v3.0 CHRNE Gene migrated from ENSG00000108556 to ENSG00000108556 (gene set migration)
Prepair 1000+ v3.0 CEP41 Gene migrated from ENSG00000106477 to ENSG00000106477 (gene set migration)
Prepair 1000+ v3.0 MMACHC Gene migrated from ENSG00000132763 to ENSG00000132763 (gene set migration)
Prepair 1000+ v3.0 XYLT1 Gene migrated from ENSG00000103489 to ENSG00000103489 (gene set migration)
Prepair 1000+ v3.0 CD40 Gene migrated from ENSG00000101017 to ENSG00000101017 (gene set migration)
Prepair 1000+ v3.0 NDUFAF6 Gene migrated from ENSG00000156170 to ENSG00000156170 (gene set migration)
Prepair 1000+ v3.0 BSCL2 Gene migrated from ENSG00000168000 to ENSG00000168000 (gene set migration)
Prepair 1000+ v3.0 BRWD3 Gene migrated from ENSG00000165288 to ENSG00000165288 (gene set migration)
Prepair 1000+ v3.0 BCKDHB Gene migrated from ENSG00000083123 to ENSG00000083123 (gene set migration)
Prepair 1000+ v3.0 BSND Gene migrated from ENSG00000162399 to ENSG00000162399 (gene set migration)
Prepair 1000+ v3.0 BLM Gene migrated from ENSG00000197299 to ENSG00000197299 (gene set migration)
Prepair 1000+ v3.0 ATP7A Gene migrated from ENSG00000165240 to ENSG00000165240 (gene set migration)
Prepair 1000+ v3.0 ATR Gene migrated from ENSG00000175054 to ENSG00000175054 (gene set migration)
Prepair 1000+ v3.0 ATM Gene migrated from ENSG00000149311 to ENSG00000149311 (gene set migration)
Prepair 1000+ v3.0 ATP7B Gene migrated from ENSG00000123191 to ENSG00000123191 (gene set migration)
Prepair 1000+ v3.0 ASL Gene migrated from ENSG00000126522 to ENSG00000126522 (gene set migration)
Prepair 1000+ v3.0 AGPS Gene migrated from ENSG00000018510 to ENSG00000018510 (gene set migration)
Prepair 1000+ v3.0 NDUFS8 Gene migrated from ENSG00000110717 to ENSG00000110717 (gene set migration)
Prepair 1000+ v3.0 AIPL1 Gene migrated from ENSG00000129221 to ENSG00000129221 (gene set migration)
Prepair 1000+ v3.0 AIFM1 Gene migrated from ENSG00000156709 to ENSG00000156709 (gene set migration)
Prepair 1000+ v3.0 AGXT Gene migrated from ENSG00000172482 to ENSG00000172482 (gene set migration)
Prepair 1000+ v3.0 NECTIN1 Gene migrated from ENSG00000110400 to ENSG00000110400 (gene set migration)
Prepair 1000+ v3.0 ABCD1 Gene migrated from ENSG00000101986 to ENSG00000101986 (gene set migration)
Prepair 1000+ v3.0 ACADM Gene migrated from ENSG00000117054 to ENSG00000117054 (gene set migration)
Prepair 1000+ v3.0 ACADVL Gene migrated from ENSG00000072778 to ENSG00000072778 (gene set migration)
Prepair 1000+ v3.0 ABCC8 Gene migrated from ENSG00000006071 to ENSG00000006071 (gene set migration)
Prepair 1000+ v3.0 FGB Gene migrated from ENSG00000171564 to ENSG00000171564 (gene set migration)
Prepair 1000+ v3.0 NSDHL Gene migrated from ENSG00000147383 to ENSG00000147383 (gene set migration)
Prepair 1000+ v3.0 HPS5 Gene migrated from ENSG00000110756 to ENSG00000110756 (gene set migration)
Prepair 1000+ v3.0 KCTD7 Gene migrated from ENSG00000243335 to ENSG00000243335 (gene set migration)
Prepair 1000+ v3.0 LARS1 Gene symbol changed from LARS to LARS1 during gene set migration (ENSG00000133706 -> ENSG00000133706)
Prepair 1000+ v3.0 CHRNG Gene migrated from ENSG00000196811 to ENSG00000196811 (gene set migration)
Prepair 1000+ v3.0 PAPSS2 Gene migrated from ENSG00000198682 to ENSG00000198682 (gene set migration)
Prepair 1000+ v3.0 F7 Gene migrated from ENSG00000057593 to ENSG00000057593 (gene set migration)
Prepair 1000+ v3.0 FKRP Gene migrated from ENSG00000181027 to ENSG00000181027 (gene set migration)
Prepair 1000+ v3.0 CANT1 Gene migrated from ENSG00000171302 to ENSG00000171302 (gene set migration)
Prepair 1000+ v3.0 BMPR1B Gene migrated from ENSG00000138696 to ENSG00000138696 (gene set migration)
Prepair 1000+ v3.0 APTX Gene migrated from ENSG00000137074 to ENSG00000137074 (gene set migration)
Prepair 1000+ v3.0 FOXP3 Gene migrated from ENSG00000049768 to ENSG00000049768 (gene set migration)
Prepair 1000+ v3.0 ACE Gene migrated from ENSG00000159640 to ENSG00000159640 (gene set migration)
Prepair 1000+ v3.0 PGAP2 Gene migrated from ENSG00000148985 to ENSG00000148985 (gene set migration)
Prepair 1000+ v3.0 EFEMP2 Gene migrated from ENSG00000172638 to ENSG00000172638 (gene set migration)
Prepair 1000+ v3.0 MID1 Gene migrated from ENSG00000101871 to ENSG00000101871 (gene set migration)
Prepair 1000+ v3.0 AHI1 Gene migrated from ENSG00000135541 to ENSG00000135541 (gene set migration)
Prepair 1000+ v3.0 USP9X Gene migrated from ENSG00000124486 to ENSG00000124486 (gene set migration)
Prepair 1000+ v3.0 DNAAF6 Gene symbol changed from PIH1D3 to DNAAF6 during gene set migration (ENSG00000080572 -> ENSG00000080572)
Prepair 1000+ v3.0 NNT Gene migrated from ENSG00000112992 to ENSG00000112992 (gene set migration)
Prepair 1000+ v3.0 BOLA3 Gene migrated from ENSG00000163170 to ENSG00000163170 (gene set migration)
Prepair 1000+ v3.0 PSAP Gene migrated from ENSG00000197746 to ENSG00000197746 (gene set migration)
Prepair 1000+ v3.0 CCBE1 Gene migrated from ENSG00000183287 to ENSG00000183287 (gene set migration)
Prepair 1000+ v3.0 RAB39B Gene migrated from ENSG00000155961 to ENSG00000155961 (gene set migration)
Prepair 1000+ v3.0 AQP2 Gene migrated from ENSG00000167580 to ENSG00000167580 (gene set migration)
Prepair 1000+ v3.0 ARG1 Gene migrated from ENSG00000118520 to ENSG00000118520 (gene set migration)
Prepair 1000+ v3.0 ARL6 Gene migrated from ENSG00000113966 to ENSG00000113966 (gene set migration)
Prepair 1000+ v3.0 SPATA7 Gene migrated from ENSG00000042317 to ENSG00000042317 (gene set migration)
Prepair 1000+ v3.0 REEP6 Gene migrated from ENSG00000115255 to ENSG00000115255 (gene set migration)
Prepair 1000+ v3.0 RTN4IP1 Gene migrated from ENSG00000130347 to ENSG00000130347 (gene set migration)
Prepair 1000+ v3.0 RARS2 Gene migrated from ENSG00000146282 to ENSG00000146282 (gene set migration)
Prepair 1000+ v3.0 SCYL1 Gene migrated from ENSG00000142186 to ENSG00000142186 (gene set migration)
Prepair 1000+ v3.0 SUCLA2 Gene migrated from ENSG00000136143 to ENSG00000136143 (gene set migration)
Prepair 1000+ v3.0 MTR Gene migrated from ENSG00000116984 to ENSG00000116984 (gene set migration)
Prepair 1000+ v3.0 FANCF Gene migrated from ENSG00000183161 to ENSG00000183161 (gene set migration)
Prepair 1000+ v3.0 DARS2 Gene migrated from ENSG00000117593 to ENSG00000117593 (gene set migration)
Prepair 1000+ v3.0 DNAJC19 Gene migrated from ENSG00000205981 to ENSG00000205981 (gene set migration)
Prepair 1000+ v3.0 CTPS1 Gene migrated from ENSG00000171793 to ENSG00000171793 (gene set migration)
Prepair 1000+ v3.0 NAA10 Gene migrated from ENSG00000102030 to ENSG00000102030 (gene set migration)
Prepair 1000+ v3.0 NANS Gene migrated from ENSG00000095380 to ENSG00000095380 (gene set migration)
Prepair 1000+ v3.0 NBN Gene migrated from ENSG00000104320 to ENSG00000104320 (gene set migration)
Prepair 1000+ v3.0 NFU1 Gene migrated from ENSG00000169599 to ENSG00000169599 (gene set migration)
Prepair 1000+ v3.0 CHST14 Gene migrated from ENSG00000169105 to ENSG00000169105 (gene set migration)
Prepair 1000+ v3.0 ABAT Gene migrated from ENSG00000183044 to ENSG00000183044 (gene set migration)
Prepair 1000+ v3.0 PCNT Gene migrated from ENSG00000160299 to ENSG00000160299 (gene set migration)
Prepair 1000+ v3.0 DCAF17 Gene migrated from ENSG00000115827 to ENSG00000115827 (gene set migration)
Prepair 1000+ v3.0 HK1 Gene migrated from ENSG00000156515 to ENSG00000156515 (gene set migration)
Prepair 1000+ v3.0 ATP6V0A2 Gene migrated from ENSG00000185344 to ENSG00000185344 (gene set migration)
Prepair 1000+ v3.0 PQBP1 Gene migrated from ENSG00000102103 to ENSG00000102103 (gene set migration)
Prepair 1000+ v3.0 ZNF711 Gene migrated from ENSG00000147180 to ENSG00000147180 (gene set migration)
Prepair 1000+ v3.0 KCNJ10 Gene migrated from ENSG00000177807 to ENSG00000177807 (gene set migration)
Prepair 1000+ v3.0 PMPCA Gene migrated from ENSG00000165688 to ENSG00000165688 (gene set migration)
Prepair 1000+ v3.0 CWC27 Gene migrated from ENSG00000153015 to ENSG00000153015 (gene set migration)
Prepair 1000+ v3.0 BBS2 Gene migrated from ENSG00000125124 to ENSG00000125124 (gene set migration)
Prepair 1000+ v3.0 ADA Gene migrated from ENSG00000196839 to ENSG00000196839 (gene set migration)
Prepair 1000+ v3.0 RBM10 Gene migrated from ENSG00000182872 to ENSG00000182872 (gene set migration)
Prepair 1000+ v3.0 RFXAP Gene migrated from ENSG00000133111 to ENSG00000133111 (gene set migration)
Prepair 1000+ v3.0 ALDH5A1 Gene migrated from ENSG00000112294 to ENSG00000112294 (gene set migration)
Prepair 1000+ v3.0 SLC2A10 Gene migrated from ENSG00000197496 to ENSG00000197496 (gene set migration)
Prepair 1000+ v3.0 SLC6A3 Gene migrated from ENSG00000142319 to ENSG00000142319 (gene set migration)
Prepair 1000+ v3.0 LARGE1 Gene migrated from ENSG00000133424 to ENSG00000133424 (gene set migration)
Prepair 1000+ v3.0 STAMBP Gene migrated from ENSG00000124356 to ENSG00000124356 (gene set migration)
Prepair 1000+ v3.0 LRP4 Gene migrated from ENSG00000134569 to ENSG00000134569 (gene set migration)
Prepair 1000+ v3.0 MRAP Gene migrated from ENSG00000170262 to ENSG00000170262 (gene set migration)
Prepair 1000+ v3.0 LAT Gene migrated from ENSG00000213658 to ENSG00000213658 (gene set migration)
Prepair 1000+ v3.0 CD40LG Gene migrated from ENSG00000102245 to ENSG00000102245 (gene set migration)
Prepair 1000+ v3.0 PRPS1 Gene migrated from ENSG00000147224 to ENSG00000147224 (gene set migration)
Prepair 1000+ v3.0 COL7A1 Gene migrated from ENSG00000114270 to ENSG00000114270 (gene set migration)
Prepair 1000+ v3.0 SCARB2 Gene migrated from ENSG00000138760 to ENSG00000138760 (gene set migration)
Prepair 1000+ v3.0 PIGO Gene migrated from ENSG00000165282 to ENSG00000165282 (gene set migration)
Prepair 1000+ v3.0 LMAN1 Gene migrated from ENSG00000074695 to ENSG00000074695 (gene set migration)
Prepair 1000+ v3.0 CUL7 Gene migrated from ENSG00000044090 to ENSG00000044090 (gene set migration)
Prepair 1000+ v3.0 ITPR1 Gene migrated from ENSG00000150995 to ENSG00000150995 (gene set migration)
Prepair 1000+ v3.0 DYNC2I1 Gene symbol changed from WDR60 to DYNC2I1 during gene set migration (ENSG00000126870 -> ENSG00000126870)
Prepair 1000+ v3.0 DPAGT1 Gene migrated from ENSG00000172269 to ENSG00000172269 (gene set migration)
Prepair 1000+ v3.0 MYMK Gene migrated from ENSG00000187616 to ENSG00000187616 (gene set migration)
Prepair 1000+ v3.0 SUMF1 Gene migrated from ENSG00000144455 to ENSG00000144455 (gene set migration)
Prepair 1000+ v3.0 GBA2 Gene migrated from ENSG00000070610 to ENSG00000070610 (gene set migration)
Prepair 1000+ v3.0 MED17 Gene migrated from ENSG00000042429 to ENSG00000042429 (gene set migration)
Prepair 1000+ v3.0 ATCAY Gene migrated from ENSG00000167654 to ENSG00000167654 (gene set migration)
Prepair 1000+ v3.0 LYRM7 Gene migrated from ENSG00000186687 to ENSG00000186687 (gene set migration)
Prepair 1000+ v3.0 CABP4 Gene migrated from ENSG00000175544 to ENSG00000175544 (gene set migration)
Prepair 1000+ v3.0 CAPN3 Gene migrated from ENSG00000092529 to ENSG00000092529 (gene set migration)
Prepair 1000+ v3.0 CLPP Gene migrated from ENSG00000125656 to ENSG00000125656 (gene set migration)
Prepair 1000+ v3.0 TRDN Gene migrated from ENSG00000186439 to ENSG00000186439 (gene set migration)
Prepair 1000+ v3.0 COL11A1 Gene migrated from ENSG00000060718 to ENSG00000060718 (gene set migration)
Prepair 1000+ v3.0 CRLF1 Gene migrated from ENSG00000006016 to ENSG00000006016 (gene set migration)
Prepair 1000+ v3.0 TMEM70 Gene migrated from ENSG00000175606 to ENSG00000175606 (gene set migration)
Prepair 1000+ v3.0 EIF2S3 Gene migrated from ENSG00000130741 to ENSG00000130741 (gene set migration)
Prepair 1000+ v3.0 GUCY2D Gene migrated from ENSG00000132518 to ENSG00000132518 (gene set migration)
Prepair 1000+ v3.0 TIMM8A Gene migrated from ENSG00000126953 to ENSG00000126953 (gene set migration)
Prepair 1000+ v3.0 EXOSC8 Gene migrated from ENSG00000120699 to ENSG00000120699 (gene set migration)
Prepair 1000+ v3.0 FANCG Gene migrated from ENSG00000221829 to ENSG00000221829 (gene set migration)
Prepair 1000+ v3.0 FLNB Gene migrated from ENSG00000136068 to ENSG00000136068 (gene set migration)
Prepair 1000+ v3.0 LZTFL1 Gene migrated from ENSG00000163818 to ENSG00000163818 (gene set migration)
Prepair 1000+ v3.0 SLC25A22 Gene migrated from ENSG00000177542 to ENSG00000177542 (gene set migration)
Prepair 1000+ v3.0 HUWE1 Gene migrated from ENSG00000086758 to ENSG00000086758 (gene set migration)
Prepair 1000+ v3.0 CHKB Gene migrated from ENSG00000100288 to ENSG00000100288 (gene set migration)
Prepair 1000+ v3.0 KIFBP Gene symbol changed from KIF1BP to KIFBP during gene set migration (ENSG00000198954 -> ENSG00000198954)
Prepair 1000+ v3.0 CDK5RAP2 Gene migrated from ENSG00000136861 to ENSG00000136861 (gene set migration)
Prepair 1000+ v3.0 KLHL41 Gene migrated from ENSG00000239474 to ENSG00000239474 (gene set migration)
Prepair 1000+ v3.0 ITCH Gene migrated from ENSG00000078747 to ENSG00000078747 (gene set migration)
Prepair 1000+ v3.0 INPPL1 Gene migrated from ENSG00000165458 to ENSG00000165458 (gene set migration)
Prepair 1000+ v3.0 KIF14 Gene migrated from ENSG00000118193 to ENSG00000118193 (gene set migration)
Prepair 1000+ v3.0 CC2D2A Gene migrated from ENSG00000048342 to ENSG00000048342 (gene set migration)
Prepair 1000+ v3.0 RIPK4 Gene migrated from ENSG00000183421 to ENSG00000183421 (gene set migration)
Prepair 1000+ v3.0 XIAP Gene migrated from ENSG00000101966 to ENSG00000101966 (gene set migration)
Prepair 1000+ v3.0 CPAP Gene symbol changed from CENPJ to CPAP during gene set migration (ENSG00000151849 -> ENSG00000151849)
Prepair 1000+ v3.0 CC2D1A Gene migrated from ENSG00000132024 to ENSG00000132024 (gene set migration)
Prepair 1000+ v3.0 SLC24A5 Gene migrated from ENSG00000188467 to ENSG00000188467 (gene set migration)
Prepair 1000+ v3.0 GUSB Gene migrated from ENSG00000169919 to ENSG00000169919 (gene set migration)
Prepair 1000+ v3.0 CDH3 Gene migrated from ENSG00000062038 to ENSG00000062038 (gene set migration)
Prepair 1000+ v3.0 NPHP1 Gene migrated from ENSG00000144061 to ENSG00000144061 (gene set migration)
Prepair 1000+ v3.0 NDRG1 Gene migrated from ENSG00000104419 to ENSG00000104419 (gene set migration)
Prepair 1000+ v3.0 CFD Gene migrated from ENSG00000197766 to ENSG00000197766 (gene set migration)
Prepair 1000+ v3.0 MTMR2 Gene migrated from ENSG00000087053 to ENSG00000087053 (gene set migration)
Prepair 1000+ v3.0 MGME1 Gene migrated from ENSG00000125871 to ENSG00000125871 (gene set migration)
Prepair 1000+ v3.0 BRAT1 Gene migrated from ENSG00000106009 to ENSG00000106009 (gene set migration)
Prepair 1000+ v3.0 BCKDK Gene migrated from ENSG00000103507 to ENSG00000103507 (gene set migration)
Prepair 1000+ v3.0 RAB3GAP2 Gene migrated from ENSG00000118873 to ENSG00000118873 (gene set migration)
Prepair 1000+ v3.0 THOC2 Gene migrated from ENSG00000125676 to ENSG00000125676 (gene set migration)
Prepair 1000+ v3.0 CLDN10 Gene migrated from ENSG00000134873 to ENSG00000134873 (gene set migration)
Prepair 1000+ v3.0 PRF1 Gene migrated from ENSG00000180644 to ENSG00000180644 (gene set migration)
Prepair 1000+ v3.0 MMAA Gene migrated from ENSG00000151611 to ENSG00000151611 (gene set migration)
Prepair 1000+ v3.0 CHRND Gene migrated from ENSG00000135902 to ENSG00000135902 (gene set migration)
Prepair 1000+ v3.0 EPCAM Gene migrated from ENSG00000119888 to ENSG00000119888 (gene set migration)
Prepair 1000+ v3.0 ADAMTS13 Gene migrated from ENSG00000160323 to ENSG00000160323 (gene set migration)
Prepair 1000+ v3.0 TRAPPC6B Gene migrated from ENSG00000182400 to ENSG00000182400 (gene set migration)
Prepair 1000+ v3.0 FITM2 Gene migrated from ENSG00000197296 to ENSG00000197296 (gene set migration)
Prepair 1000+ v3.0 ACY1 Gene migrated from ENSG00000243989 to ENSG00000243989 (gene set migration)
Prepair 1000+ v3.0 RPL10 Gene migrated from ENSG00000147403 to ENSG00000147403 (gene set migration)
Prepair 1000+ v3.0 VIPAS39 Gene migrated from ENSG00000151445 to ENSG00000151445 (gene set migration)
Prepair 1000+ v3.0 UBA1 Gene migrated from ENSG00000130985 to ENSG00000130985 (gene set migration)
Prepair 1000+ v3.0 TRMT10A Gene migrated from ENSG00000145331 to ENSG00000145331 (gene set migration)
Prepair 1000+ v3.0 TBX19 Gene migrated from ENSG00000143178 to ENSG00000143178 (gene set migration)
Prepair 1000+ v3.0 TALDO1 Gene migrated from ENSG00000177156 to ENSG00000177156 (gene set migration)
Prepair 1000+ v3.0 SPART Gene migrated from ENSG00000133104 to ENSG00000133104 (gene set migration)
Prepair 1000+ v3.0 SMS Gene migrated from ENSG00000102172 to ENSG00000102172 (gene set migration)
Prepair 1000+ v3.0 SLC25A38 Gene migrated from ENSG00000144659 to ENSG00000144659 (gene set migration)
Prepair 1000+ v3.0 SLC25A46 Gene migrated from ENSG00000164209 to ENSG00000164209 (gene set migration)
Prepair 1000+ v3.0 SLC29A3 Gene migrated from ENSG00000198246 to ENSG00000198246 (gene set migration)
Prepair 1000+ v3.0 COL6A2 Gene migrated from ENSG00000142173 to ENSG00000142173 (gene set migration)
Prepair 1000+ v3.0 SCARF2 Gene migrated from ENSG00000244486 to ENSG00000244486 (gene set migration)
Prepair 1000+ v3.0 SBDS Gene migrated from ENSG00000126524 to ENSG00000126524 (gene set migration)
Prepair 1000+ v3.0 KCNJ1 Gene migrated from ENSG00000151704 to ENSG00000151704 (gene set migration)
Prepair 1000+ v3.0 RFXANK Gene migrated from ENSG00000064490 to ENSG00000064490 (gene set migration)
Prepair 1000+ v3.0 RFX6 Gene migrated from ENSG00000185002 to ENSG00000185002 (gene set migration)
Prepair 1000+ v3.0 PYCR1 Gene migrated from ENSG00000183010 to ENSG00000183010 (gene set migration)
Prepair 1000+ v3.0 PSMB8 Gene migrated from ENSG00000204264 to ENSG00000204264 (gene set migration)
Prepair 1000+ v3.0 PXDN Gene migrated from ENSG00000130508 to ENSG00000130508 (gene set migration)
Prepair 1000+ v3.0 PPA2 Gene migrated from ENSG00000138777 to ENSG00000138777 (gene set migration)
Prepair 1000+ v3.0 PNPLA6 Gene migrated from ENSG00000032444 to ENSG00000032444 (gene set migration)
Prepair 1000+ v3.0 OCLN Gene migrated from ENSG00000197822 to ENSG00000197822 (gene set migration)
Prepair 1000+ v3.0 ORAI1 Gene migrated from ENSG00000276045 to ENSG00000276045 (gene set migration)
Prepair 1000+ v3.0 NUP107 Gene migrated from ENSG00000111581 to ENSG00000111581 (gene set migration)
Prepair 1000+ v3.0 CCDC88C Gene migrated from ENSG00000015133 to ENSG00000015133 (gene set migration)
Prepair 1000+ v3.0 MTHFD1 Gene migrated from ENSG00000100714 to ENSG00000100714 (gene set migration)
Prepair 1000+ v3.0 MSTO1 Gene migrated from ENSG00000125459 to ENSG00000125459 (gene set migration)
Prepair 1000+ v3.0 MBTPS2 Gene migrated from ENSG00000012174 to ENSG00000012174 (gene set migration)
Prepair 1000+ v3.0 MAPKBP1 Gene migrated from ENSG00000137802 to ENSG00000137802 (gene set migration)
Prepair 1000+ v3.0 LIAS Gene migrated from ENSG00000121897 to ENSG00000121897 (gene set migration)
Prepair 1000+ v3.0 LEP Gene migrated from ENSG00000174697 to ENSG00000174697 (gene set migration)
Prepair 1000+ v3.0 KY Gene migrated from ENSG00000174611 to ENSG00000174611 (gene set migration)
Prepair 1000+ v3.0 CFAP418 Gene symbol changed from C8orf37 to CFAP418 during gene set migration (ENSG00000156172 -> ENSG00000156172)
Prepair 1000+ v3.0 IQCB1 Gene migrated from ENSG00000173226 to ENSG00000173226 (gene set migration)
Prepair 1000+ v3.0 IL11RA Gene migrated from ENSG00000137070 to ENSG00000137070 (gene set migration)
Prepair 1000+ v3.0 HPGD Gene migrated from ENSG00000164120 to ENSG00000164120 (gene set migration)
Prepair 1000+ v3.0 ORC6 Gene migrated from ENSG00000091651 to ENSG00000091651 (gene set migration)
Prepair 1000+ v3.0 HACE1 Gene migrated from ENSG00000085382 to ENSG00000085382 (gene set migration)
Prepair 1000+ v3.0 FANCE Gene migrated from ENSG00000112039 to ENSG00000112039 (gene set migration)
Prepair 1000+ v3.0 FRRS1L Gene migrated from ENSG00000260230 to ENSG00000260230 (gene set migration)
Prepair 1000+ v3.0 IKBKB Gene migrated from ENSG00000104365 to ENSG00000104365 (gene set migration)
Prepair 1000+ v3.0 EIF2B3 Gene migrated from ENSG00000070785 to ENSG00000070785 (gene set migration)
Prepair 1000+ v3.0 FAM20C Gene migrated from ENSG00000177706 to ENSG00000177706 (gene set migration)
Prepair 1000+ v3.0 CLN8 Gene migrated from ENSG00000182372 to ENSG00000182372 (gene set migration)
Prepair 1000+ v3.0 SCN1B Gene migrated from ENSG00000105711 to ENSG00000105711 (gene set migration)
Prepair 1000+ v3.0 HPDL Gene migrated from ENSG00000186603 to ENSG00000186603 (gene set migration)
Prepair 1000+ v3.0 TSPYL1 Gene migrated from ENSG00000189241 to ENSG00000189241 (gene set migration)
Prepair 1000+ v3.0 CHMP1A Gene migrated from ENSG00000131165 to ENSG00000131165 (gene set migration)
Prepair 1000+ v3.0 YIF1B Gene migrated from ENSG00000167645 to ENSG00000167645 (gene set migration)
Prepair 1000+ v3.0 TP53RK Gene migrated from ENSG00000172315 to ENSG00000172315 (gene set migration)
Prepair 1000+ v3.0 ERBB3 Gene migrated from ENSG00000065361 to ENSG00000065361 (gene set migration)
Prepair 1000+ v3.0 ADPRS Gene symbol changed from ADPRHL2 to ADPRS during gene set migration (ENSG00000116863 -> ENSG00000116863)
Prepair 1000+ v3.0 MOGS Gene migrated from ENSG00000115275 to ENSG00000115275 (gene set migration)
Prepair 1000+ v3.0 SLC30A10 Gene migrated from ENSG00000196660 to ENSG00000196660 (gene set migration)
Prepair 1000+ v3.0 SAMHD1 Gene migrated from ENSG00000101347 to ENSG00000101347 (gene set migration)
Prepair 1000+ v3.0 RNASEH2A Gene migrated from ENSG00000104889 to ENSG00000104889 (gene set migration)
Prepair 1000+ v3.0 RFT1 Gene migrated from ENSG00000163933 to ENSG00000163933 (gene set migration)
Prepair 1000+ v3.0 RD3 Gene migrated from ENSG00000198570 to ENSG00000198570 (gene set migration)
Prepair 1000+ v3.0 RAG1 Gene migrated from ENSG00000166349 to ENSG00000166349 (gene set migration)
Prepair 1000+ v3.0 PDP1 Gene migrated from ENSG00000164951 to ENSG00000164951 (gene set migration)
Prepair 1000+ v3.0 OTUD6B Gene migrated from ENSG00000155100 to ENSG00000155100 (gene set migration)
Prepair 1000+ v3.0 NDUFV2 Gene migrated from ENSG00000178127 to ENSG00000178127 (gene set migration)
Prepair 1000+ v3.0 NCF2 Gene migrated from ENSG00000116701 to ENSG00000116701 (gene set migration)
Prepair 1000+ v3.0 MYD88 Gene migrated from ENSG00000172936 to ENSG00000172936 (gene set migration)
Prepair 1000+ v3.0 MUSK Gene migrated from ENSG00000030304 to ENSG00000030304 (gene set migration)
Prepair 1000+ v3.0 MTTP Gene migrated from ENSG00000138823 to ENSG00000138823 (gene set migration)
Prepair 1000+ v3.0 MICU1 Gene migrated from ENSG00000107745 to ENSG00000107745 (gene set migration)
Prepair 1000+ v3.0 MFN2 Gene migrated from ENSG00000116688 to ENSG00000116688 (gene set migration)
Prepair 1000+ v3.0 BLTP1 Gene symbol changed from KIAA1109 to BLTP1 during gene set migration (ENSG00000138688 -> ENSG00000138688)
Prepair 1000+ v3.0 RXYLT1 Gene symbol changed from TMEM5 to RXYLT1 during gene set migration (ENSG00000118600 -> ENSG00000118600)
Prepair 1000+ v3.0 MPLKIP Gene migrated from ENSG00000168303 to ENSG00000168303 (gene set migration)
Prepair 1000+ v3.0 MMAB Gene migrated from ENSG00000139428 to ENSG00000139428 (gene set migration)
Prepair 1000+ v3.0 SSR4 Gene migrated from ENSG00000180879 to ENSG00000180879 (gene set migration)
Prepair 1000+ v3.0 SPINT2 Gene migrated from ENSG00000167642 to ENSG00000167642 (gene set migration)
Prepair 1000+ v3.0 SLC52A2 Gene migrated from ENSG00000185803 to ENSG00000185803 (gene set migration)
Prepair 1000+ v3.0 AFG2A Gene symbol changed from SPATA5 to AFG2A during gene set migration (ENSG00000145375 -> ENSG00000145375)
Prepair 1000+ v3.0 SLC25A13 Gene migrated from ENSG00000004864 to ENSG00000004864 (gene set migration)
Prepair 1000+ v3.0 PEX6 Gene migrated from ENSG00000124587 to ENSG00000124587 (gene set migration)
Prepair 1000+ v3.0 MGAT2 Gene migrated from ENSG00000168282 to ENSG00000168282 (gene set migration)
Prepair 1000+ v3.0 MCFD2 Gene migrated from ENSG00000180398 to ENSG00000180398 (gene set migration)
Prepair 1000+ v3.0 LTBP3 Gene migrated from ENSG00000168056 to ENSG00000168056 (gene set migration)
Prepair 1000+ v3.0 GTPBP3 Gene migrated from ENSG00000130299 to ENSG00000130299 (gene set migration)
Prepair 1000+ v3.0 GNPTG Gene migrated from ENSG00000090581 to ENSG00000090581 (gene set migration)
Prepair 1000+ v3.0 GDI1 Gene migrated from ENSG00000203879 to ENSG00000203879 (gene set migration)
Prepair 1000+ v3.0 GLE1 Gene migrated from ENSG00000119392 to ENSG00000119392 (gene set migration)
Prepair 1000+ v3.0 GDF1 Gene migrated from ENSG00000130283 to ENSG00000130283 (gene set migration)
Prepair 1000+ v3.0 GDAP1 Gene migrated from ENSG00000104381 to ENSG00000104381 (gene set migration)
Prepair 1000+ v3.0 JAM3 Gene migrated from ENSG00000166086 to ENSG00000166086 (gene set migration)
Prepair 1000+ v3.0 IFNGR1 Gene migrated from ENSG00000027697 to ENSG00000027697 (gene set migration)
Prepair 1000+ v3.0 DRC4 Gene symbol changed from GAS8 to DRC4 during gene set migration (ENSG00000141013 -> ENSG00000141013)
Prepair 1000+ v3.0 MALT1 Gene migrated from ENSG00000172175 to ENSG00000172175 (gene set migration)
Prepair 1000+ v3.0 DNAJC21 Gene migrated from ENSG00000168724 to ENSG00000168724 (gene set migration)
Prepair 1000+ v3.0 DNAJC6 Gene migrated from ENSG00000116675 to ENSG00000116675 (gene set migration)
Prepair 1000+ v3.0 DYNC2H1 Gene migrated from ENSG00000187240 to ENSG00000187240 (gene set migration)
Prepair 1000+ v3.0 EIF2AK4 Gene migrated from ENSG00000128829 to ENSG00000128829 (gene set migration)
Prepair 1000+ v3.0 HEXA Gene migrated from ENSG00000213614 to ENSG00000213614 (gene set migration)
Prepair 1000+ v3.0 HMGCS2 Gene migrated from ENSG00000134240 to ENSG00000134240 (gene set migration)
Prepair 1000+ v3.0 IGF1R Gene migrated from ENSG00000140443 to ENSG00000140443 (gene set migration)
Prepair 1000+ v3.0 DBR1 Gene migrated from ENSG00000138231 to ENSG00000138231 (gene set migration)
Prepair 1000+ v3.0 OXCT1 Gene migrated from ENSG00000083720 to ENSG00000083720 (gene set migration)
Prepair 1000+ v3.0 IQSEC2 Gene migrated from ENSG00000124313 to ENSG00000124313 (gene set migration)
Prepair 1000+ v3.0 L1CAM Gene migrated from ENSG00000198910 to ENSG00000198910 (gene set migration)
Prepair 1000+ v3.0 DLAT Gene migrated from ENSG00000150768 to ENSG00000150768 (gene set migration)
Prepair 1000+ v3.0 UNC80 Gene migrated from ENSG00000144406 to ENSG00000144406 (gene set migration)
Prepair 1000+ v3.0 FLVCR2 Gene migrated from ENSG00000119686 to ENSG00000119686 (gene set migration)
Prepair 1000+ v3.0 ZNF469 Gene migrated from ENSG00000225614 to ENSG00000225614 (gene set migration)
Prepair 1000+ v3.0 LAMA2 Gene migrated from ENSG00000196569 to ENSG00000196569 (gene set migration)
Prepair 1000+ v3.0 POMC Gene migrated from ENSG00000115138 to ENSG00000115138 (gene set migration)
Prepair 1000+ v3.0 ZFYVE26 Gene migrated from ENSG00000072121 to ENSG00000072121 (gene set migration)
Prepair 1000+ v3.0 YARS2 Gene migrated from ENSG00000139131 to ENSG00000139131 (gene set migration)
Prepair 1000+ v3.0 DYNC2I2 Gene symbol changed from WDR34 to DYNC2I2 during gene set migration (ENSG00000119333 -> ENSG00000119333)
Prepair 1000+ v3.0 WAS Gene migrated from ENSG00000015285 to ENSG00000015285 (gene set migration)
Prepair 1000+ v3.0 VRK1 Gene migrated from ENSG00000100749 to ENSG00000100749 (gene set migration)
Prepair 1000+ v3.0 USH1C Gene migrated from ENSG00000006611 to ENSG00000006611 (gene set migration)
Prepair 1000+ v3.0 TYR Gene migrated from ENSG00000077498 to ENSG00000077498 (gene set migration)
Prepair 1000+ v3.0 UBA5 Gene migrated from ENSG00000081307 to ENSG00000081307 (gene set migration)
Prepair 1000+ v3.0 TULP1 Gene migrated from ENSG00000112041 to ENSG00000112041 (gene set migration)
Prepair 1000+ v3.0 TTC7A Gene migrated from ENSG00000068724 to ENSG00000068724 (gene set migration)
Prepair 1000+ v3.0 TSHB Gene migrated from ENSG00000134200 to ENSG00000134200 (gene set migration)
Prepair 1000+ v3.0 TSFM Gene migrated from ENSG00000123297 to ENSG00000123297 (gene set migration)
Prepair 1000+ v3.0 TOE1 Gene migrated from ENSG00000132773 to ENSG00000132773 (gene set migration)
Prepair 1000+ v3.0 TMTC3 Gene migrated from ENSG00000139324 to ENSG00000139324 (gene set migration)
Prepair 1000+ v3.0 TMEM216 Gene migrated from ENSG00000187049 to ENSG00000187049 (gene set migration)
Prepair 1000+ v3.0 TMEM237 Gene migrated from ENSG00000155755 to ENSG00000155755 (gene set migration)
Prepair 1000+ v3.0 TECPR2 Gene migrated from ENSG00000196663 to ENSG00000196663 (gene set migration)
Prepair 1000+ v3.0 TELO2 Gene migrated from ENSG00000100726 to ENSG00000100726 (gene set migration)
Prepair 1000+ v3.0 TBC1D23 Gene migrated from ENSG00000036054 to ENSG00000036054 (gene set migration)
Prepair 1000+ v3.0 SPG11 Gene migrated from ENSG00000104133 to ENSG00000104133 (gene set migration)
Prepair 1000+ v3.0 NDUFAF2 Gene migrated from ENSG00000164182 to ENSG00000164182 (gene set migration)
Prepair 1000+ v3.0 SLC7A7 Gene migrated from ENSG00000155465 to ENSG00000155465 (gene set migration)
Prepair 1000+ v3.0 SMARCAL1 Gene migrated from ENSG00000138375 to ENSG00000138375 (gene set migration)
Prepair 1000+ v3.0 SLC6A8 Gene migrated from ENSG00000130821 to ENSG00000130821 (gene set migration)
Prepair 1000+ v3.0 SLC46A1 Gene migrated from ENSG00000076351 to ENSG00000076351 (gene set migration)
Prepair 1000+ v3.0 SLC26A3 Gene migrated from ENSG00000091138 to ENSG00000091138 (gene set migration)
Prepair 1000+ v3.0 SLC25A15 Gene migrated from ENSG00000102743 to ENSG00000102743 (gene set migration)
Prepair 1000+ v3.0 SH3TC2 Gene migrated from ENSG00000169247 to ENSG00000169247 (gene set migration)
Prepair 1000+ v3.0 SLC12A1 Gene migrated from ENSG00000074803 to ENSG00000074803 (gene set migration)
Prepair 1000+ v3.0 SGCB Gene migrated from ENSG00000163069 to ENSG00000163069 (gene set migration)
Prepair 1000+ v3.0 SEC23B Gene migrated from ENSG00000101310 to ENSG00000101310 (gene set migration)
Prepair 1000+ v3.0 SERPINH1 Gene migrated from ENSG00000149257 to ENSG00000149257 (gene set migration)
Prepair 1000+ v3.0 SGCG Gene migrated from ENSG00000102683 to ENSG00000102683 (gene set migration)
Prepair 1000+ v3.0 RYR1 Gene migrated from ENSG00000196218 to ENSG00000196218 (gene set migration)
Prepair 1000+ v3.0 RP2 Gene migrated from ENSG00000102218 to ENSG00000102218 (gene set migration)
Prepair 1000+ v3.0 RPE65 Gene migrated from ENSG00000116745 to ENSG00000116745 (gene set migration)
Prepair 1000+ v3.0 RAX Gene migrated from ENSG00000134438 to ENSG00000134438 (gene set migration)
Prepair 1000+ v3.0 RBBP8 Gene migrated from ENSG00000101773 to ENSG00000101773 (gene set migration)
Prepair 1000+ v3.0 RAB3GAP1 Gene migrated from ENSG00000115839 to ENSG00000115839 (gene set migration)
Prepair 1000+ v3.0 RAG2 Gene migrated from ENSG00000175097 to ENSG00000175097 (gene set migration)
Prepair 1000+ v3.0 RAB23 Gene migrated from ENSG00000112210 to ENSG00000112210 (gene set migration)
Prepair 1000+ v3.0 PRDM5 Gene migrated from ENSG00000138738 to ENSG00000138738 (gene set migration)
Prepair 1000+ v3.0 POU1F1 Gene migrated from ENSG00000064835 to ENSG00000064835 (gene set migration)
Prepair 1000+ v3.0 PKHD1 Gene migrated from ENSG00000170927 to ENSG00000170927 (gene set migration)
Prepair 1000+ v3.0 PLA2G6 Gene migrated from ENSG00000184381 to ENSG00000184381 (gene set migration)
Prepair 1000+ v3.0 PIBF1 Gene migrated from ENSG00000083535 to ENSG00000083535 (gene set migration)
Prepair 1000+ v3.0 PEX7 Gene migrated from ENSG00000112357 to ENSG00000112357 (gene set migration)
Prepair 1000+ v3.0 PHYH Gene migrated from ENSG00000107537 to ENSG00000107537 (gene set migration)
Prepair 1000+ v3.0 PEX5 Gene migrated from ENSG00000139197 to ENSG00000139197 (gene set migration)
Prepair 1000+ v3.0 PEX26 Gene migrated from ENSG00000215193 to ENSG00000215193 (gene set migration)
Prepair 1000+ v3.0 PET100 Gene migrated from ENSG00000229833 to ENSG00000229833 (gene set migration)
Prepair 1000+ v3.0 PEX13 Gene migrated from ENSG00000162928 to ENSG00000162928 (gene set migration)
Prepair 1000+ v3.0 PC Gene migrated from ENSG00000173599 to ENSG00000173599 (gene set migration)
Prepair 1000+ v3.0 PANK2 Gene migrated from ENSG00000125779 to ENSG00000125779 (gene set migration)
Prepair 1000+ v3.0 PAK3 Gene migrated from ENSG00000077264 to ENSG00000077264 (gene set migration)
Prepair 1000+ v3.0 PAH Gene migrated from ENSG00000171759 to ENSG00000171759 (gene set migration)
Prepair 1000+ v3.0 OSTM1 Gene migrated from ENSG00000081087 to ENSG00000081087 (gene set migration)
Prepair 1000+ v3.0 PHGDH Gene migrated from ENSG00000092621 to ENSG00000092621 (gene set migration)
Prepair 1000+ v3.0 NR0B1 Gene migrated from ENSG00000169297 to ENSG00000169297 (gene set migration)
Prepair 1000+ v3.0 TTPA Gene migrated from ENSG00000137561 to ENSG00000137561 (gene set migration)
Prepair 1000+ v3.0 OCRL Gene migrated from ENSG00000122126 to ENSG00000122126 (gene set migration)
Prepair 1000+ v3.0 SDCCAG8 Gene migrated from ENSG00000054282 to ENSG00000054282 (gene set migration)
Prepair 1000+ v3.0 NDP Gene migrated from ENSG00000124479 to ENSG00000124479 (gene set migration)
Prepair 1000+ v3.0 NDE1 Gene migrated from ENSG00000072864 to ENSG00000072864 (gene set migration)
Prepair 1000+ v3.0 GNS Gene migrated from ENSG00000135677 to ENSG00000135677 (gene set migration)
Prepair 1000+ v3.0 NAGS Gene migrated from ENSG00000161653 to ENSG00000161653 (gene set migration)
Prepair 1000+ v3.0 NAGA Gene migrated from ENSG00000198951 to ENSG00000198951 (gene set migration)
Prepair 1000+ v3.0 MYO7A Gene migrated from ENSG00000137474 to ENSG00000137474 (gene set migration)
Prepair 1000+ v3.0 DNAAF11 Gene symbol changed from LRRC6 to DNAAF11 during gene set migration (ENSG00000129295 -> ENSG00000129295)
Prepair 1000+ v3.0 SLC25A19 Gene migrated from ENSG00000125454 to ENSG00000125454 (gene set migration)
Prepair 1000+ v3.0 MPL Gene migrated from ENSG00000117400 to ENSG00000117400 (gene set migration)
Prepair 1000+ v3.0 MPV17 Gene migrated from ENSG00000115204 to ENSG00000115204 (gene set migration)
Prepair 1000+ v3.0 MLYCD Gene migrated from ENSG00000103150 to ENSG00000103150 (gene set migration)
Prepair 1000+ v3.0 MLC1 Gene migrated from ENSG00000100427 to ENSG00000100427 (gene set migration)
Prepair 1000+ v3.0 MKS1 Gene migrated from ENSG00000011143 to ENSG00000011143 (gene set migration)
Prepair 1000+ v3.0 MFSD8 Gene migrated from ENSG00000164073 to ENSG00000164073 (gene set migration)
Prepair 1000+ v3.0 MCOLN1 Gene migrated from ENSG00000090674 to ENSG00000090674 (gene set migration)
Prepair 1000+ v3.0 HEPACAM Gene migrated from ENSG00000165478 to ENSG00000165478 (gene set migration)
Prepair 1000+ v3.0 FKBP10 Gene migrated from ENSG00000141756 to ENSG00000141756 (gene set migration)
Prepair 1000+ v3.0 LDLR Gene migrated from ENSG00000130164 to ENSG00000130164 (gene set migration)
Prepair 1000+ v3.0 STIL Gene migrated from ENSG00000123473 to ENSG00000123473 (gene set migration)
Prepair 1000+ v3.0 LAMB1 Gene migrated from ENSG00000091136 to ENSG00000091136 (gene set migration)
Prepair 1000+ v3.0 MBTPS1 Gene migrated from ENSG00000140943 to ENSG00000140943 (gene set migration)
Prepair 1000+ v3.0 IVD Gene migrated from ENSG00000128928 to ENSG00000128928 (gene set migration)
Prepair 1000+ v3.0 KCNQ1 Gene migrated from ENSG00000053918 to ENSG00000053918 (gene set migration)
Prepair 1000+ v3.0 ITGA6 Gene migrated from ENSG00000091409 to ENSG00000091409 (gene set migration)
Prepair 1000+ v3.0 FREM2 Gene migrated from ENSG00000150893 to ENSG00000150893 (gene set migration)
Prepair 1000+ v3.0 INVS Gene migrated from ENSG00000119509 to ENSG00000119509 (gene set migration)
Prepair 1000+ v3.0 IL2RG Gene migrated from ENSG00000147168 to ENSG00000147168 (gene set migration)
Prepair 1000+ v3.0 IDS Gene migrated from ENSG00000010404 to ENSG00000010404 (gene set migration)
Prepair 1000+ v3.0 IGHMBP2 Gene migrated from ENSG00000132740 to ENSG00000132740 (gene set migration)
Prepair 1000+ v3.0 ATP6AP1 Gene migrated from ENSG00000071553 to ENSG00000071553 (gene set migration)
Prepair 1000+ v3.0 HPD Gene migrated from ENSG00000158104 to ENSG00000158104 (gene set migration)
Prepair 1000+ v3.0 HMGCL Gene migrated from ENSG00000117305 to ENSG00000117305 (gene set migration)
Prepair 1000+ v3.0 HGSNAT Gene migrated from ENSG00000165102 to ENSG00000165102 (gene set migration)
Prepair 1000+ v3.0 HEXB Gene migrated from ENSG00000049860 to ENSG00000049860 (gene set migration)
Prepair 1000+ v3.0 HBB Gene migrated from ENSG00000244734 to ENSG00000244734 (gene set migration)
Prepair 1000+ v3.0 HAMP Gene migrated from ENSG00000105697 to ENSG00000105697 (gene set migration)
Prepair 1000+ v3.0 HJV Gene symbol changed from HFE2 to HJV during gene set migration (ENSG00000168509 -> ENSG00000168509)
Prepair 1000+ v3.0 HIBCH Gene migrated from ENSG00000198130 to ENSG00000198130 (gene set migration)
Prepair 1000+ v3.0 GPC3 Gene migrated from ENSG00000147257 to ENSG00000147257 (gene set migration)
Prepair 1000+ v3.0 GNB5 Gene migrated from ENSG00000069966 to ENSG00000069966 (gene set migration)
Prepair 1000+ v3.0 GNPTAB Gene migrated from ENSG00000111670 to ENSG00000111670 (gene set migration)
Prepair 1000+ v3.0 HLCS Gene migrated from ENSG00000159267 to ENSG00000159267 (gene set migration)
Prepair 1000+ v3.0 GNPAT Gene migrated from ENSG00000116906 to ENSG00000116906 (gene set migration)
Prepair 1000+ v3.0 GAMT Gene migrated from ENSG00000130005 to ENSG00000130005 (gene set migration)
Prepair 1000+ v3.0 GALNS Gene migrated from ENSG00000141012 to ENSG00000141012 (gene set migration)
Prepair 1000+ v3.0 FTSJ1 Gene migrated from ENSG00000068438 to ENSG00000068438 (gene set migration)
Prepair 1000+ v3.0 FUCA1 Gene migrated from ENSG00000179163 to ENSG00000179163 (gene set migration)
Prepair 1000+ v3.0 PEX11B Gene migrated from ENSG00000131779 to ENSG00000131779 (gene set migration)
Prepair 1000+ v3.0 FMR1 Gene migrated from ENSG00000102081 to ENSG00000102081 (gene set migration)
Prepair 1000+ v3.0 FANCD2 Gene migrated from ENSG00000144554 to ENSG00000144554 (gene set migration)
Prepair 1000+ v3.0 HYCC1 Gene symbol changed from FAM126A to HYCC1 during gene set migration (ENSG00000122591 -> ENSG00000122591)
Prepair 1000+ v3.0 FANCB Gene migrated from ENSG00000181544 to ENSG00000181544 (gene set migration)
Prepair 1000+ v3.0 ETFDH Gene migrated from ENSG00000171503 to ENSG00000171503 (gene set migration)
Prepair 1000+ v3.0 EVC2 Gene migrated from ENSG00000173040 to ENSG00000173040 (gene set migration)
Prepair 1000+ v3.0 EVC Gene migrated from ENSG00000072840 to ENSG00000072840 (gene set migration)
Prepair 1000+ v3.0 ETHE1 Gene migrated from ENSG00000105755 to ENSG00000105755 (gene set migration)
Prepair 1000+ v3.0 EMD Gene migrated from ENSG00000102119 to ENSG00000102119 (gene set migration)
Prepair 1000+ v3.0 EIF2B2 Gene migrated from ENSG00000119718 to ENSG00000119718 (gene set migration)
Prepair 1000+ v3.0 EDA Gene migrated from ENSG00000158813 to ENSG00000158813 (gene set migration)
Prepair 1000+ v3.0 JAGN1 Gene migrated from ENSG00000171135 to ENSG00000171135 (gene set migration)
Prepair 1000+ v3.0 DNAI2 Gene migrated from ENSG00000171595 to ENSG00000171595 (gene set migration)
Prepair 1000+ v3.0 NUP93 Gene migrated from ENSG00000102900 to ENSG00000102900 (gene set migration)
Prepair 1000+ v3.0 DNAI1 Gene migrated from ENSG00000122735 to ENSG00000122735 (gene set migration)
Prepair 1000+ v3.0 IL10RA Gene migrated from ENSG00000110324 to ENSG00000110324 (gene set migration)
Prepair 1000+ v3.0 DHCR7 Gene migrated from ENSG00000172893 to ENSG00000172893 (gene set migration)
Prepair 1000+ v3.0 CYP7B1 Gene migrated from ENSG00000172817 to ENSG00000172817 (gene set migration)
Prepair 1000+ v3.0 CYP17A1 Gene migrated from ENSG00000148795 to ENSG00000148795 (gene set migration)
Prepair 1000+ v3.0 CYP27A1 Gene migrated from ENSG00000135929 to ENSG00000135929 (gene set migration)
Prepair 1000+ v3.0 NDUFS2 Gene migrated from ENSG00000158864 to ENSG00000158864 (gene set migration)
Prepair 1000+ v3.0 CYBA Gene migrated from ENSG00000051523 to ENSG00000051523 (gene set migration)
Prepair 1000+ v3.0 CYP11B2 Gene migrated from ENSG00000179142 to ENSG00000179142 (gene set migration)
Prepair 1000+ v3.0 CTSD Gene migrated from ENSG00000117984 to ENSG00000117984 (gene set migration)
Prepair 1000+ v3.0 COLEC11 Gene migrated from ENSG00000118004 to ENSG00000118004 (gene set migration)
Prepair 1000+ v3.0 COL6A1 Gene migrated from ENSG00000142156 to ENSG00000142156 (gene set migration)
Prepair 1000+ v3.0 NPHP4 Gene migrated from ENSG00000131697 to ENSG00000131697 (gene set migration)
Prepair 1000+ v3.0 COL18A1 Gene migrated from ENSG00000182871 to ENSG00000182871 (gene set migration)
Prepair 1000+ v3.0 COL4A4 Gene migrated from ENSG00000081052 to ENSG00000081052 (gene set migration)
Prepair 1000+ v3.0 COL27A1 Gene migrated from ENSG00000196739 to ENSG00000196739 (gene set migration)
Prepair 1000+ v3.0 CLRN1 Gene migrated from ENSG00000163646 to ENSG00000163646 (gene set migration)
Prepair 1000+ v3.0 CLP1 Gene migrated from ENSG00000172409 to ENSG00000172409 (gene set migration)
Prepair 1000+ v3.0 NDUFS7 Gene migrated from ENSG00000115286 to ENSG00000115286 (gene set migration)
Prepair 1000+ v3.0 CASQ2 Gene migrated from ENSG00000118729 to ENSG00000118729 (gene set migration)
Prepair 1000+ v3.0 NKX6-2 Gene migrated from ENSG00000148826 to ENSG00000148826 (gene set migration)
Prepair 1000+ v3.0 CPLANE1 Gene symbol changed from C5orf42 to CPLANE1 during gene set migration (ENSG00000197603 -> ENSG00000197603)
Prepair 1000+ v3.0 AUH Gene migrated from ENSG00000148090 to ENSG00000148090 (gene set migration)
Prepair 1000+ v3.0 BBS1 Gene migrated from ENSG00000174483 to ENSG00000174483 (gene set migration)
Prepair 1000+ v3.0 NTRK1 Gene migrated from ENSG00000198400 to ENSG00000198400 (gene set migration)
Prepair 1000+ v3.0 BBS10 Gene migrated from ENSG00000179941 to ENSG00000179941 (gene set migration)
Prepair 1000+ v3.0 CARS2 Gene migrated from ENSG00000134905 to ENSG00000134905 (gene set migration)
Prepair 1000+ v3.0 SGPL1 Gene migrated from ENSG00000166224 to ENSG00000166224 (gene set migration)
Prepair 1000+ v3.0 ATP8B1 Gene migrated from ENSG00000081923 to ENSG00000081923 (gene set migration)
Prepair 1000+ v3.0 ASPA Gene migrated from ENSG00000108381 to ENSG00000108381 (gene set migration)
Prepair 1000+ v3.0 ASS1 Gene migrated from ENSG00000130707 to ENSG00000130707 (gene set migration)
Prepair 1000+ v3.0 NAGLU Gene migrated from ENSG00000108784 to ENSG00000108784 (gene set migration)
Prepair 1000+ v3.0 ALPL Gene migrated from ENSG00000162551 to ENSG00000162551 (gene set migration)
Prepair 1000+ v3.0 AMT Gene migrated from ENSG00000145020 to ENSG00000145020 (gene set migration)
Prepair 1000+ v3.0 AP1S2 Gene migrated from ENSG00000182287 to ENSG00000182287 (gene set migration)
Prepair 1000+ v3.0 AMPD2 Gene migrated from ENSG00000116337 to ENSG00000116337 (gene set migration)
Prepair 1000+ v3.0 ALDOB Gene migrated from ENSG00000136872 to ENSG00000136872 (gene set migration)
Prepair 1000+ v3.0 SLC38A8 Gene migrated from ENSG00000166558 to ENSG00000166558 (gene set migration)
Prepair 1000+ v3.0 ALDH7A1 Gene migrated from ENSG00000164904 to ENSG00000164904 (gene set migration)
Prepair 1000+ v3.0 AGK Gene migrated from ENSG00000006530 to ENSG00000006530 (gene set migration)
Prepair 1000+ v3.0 NGF Gene migrated from ENSG00000134259 to ENSG00000134259 (gene set migration)
Prepair 1000+ v3.0 ADAR Gene migrated from ENSG00000160710 to ENSG00000160710 (gene set migration)
Prepair 1000+ v3.0 ADAMTS2 Gene migrated from ENSG00000087116 to ENSG00000087116 (gene set migration)
Prepair 1000+ v3.0 MTM1 Gene migrated from ENSG00000171100 to ENSG00000171100 (gene set migration)
Prepair 1000+ v3.0 ACAT1 Gene migrated from ENSG00000075239 to ENSG00000075239 (gene set migration)
Prepair 1000+ v3.0 ABCB4 Gene migrated from ENSG00000005471 to ENSG00000005471 (gene set migration)
Prepair 1000+ v3.0 ABCA12 Gene migrated from ENSG00000144452 to ENSG00000144452 (gene set migration)
Prepair 1000+ v3.0 FGA Gene migrated from ENSG00000171560 to ENSG00000171560 (gene set migration)
Prepair 1000+ v3.0 FGG Gene migrated from ENSG00000171557 to ENSG00000171557 (gene set migration)
Prepair 1000+ v3.0 HPRT1 Gene migrated from ENSG00000165704 to ENSG00000165704 (gene set migration)
Prepair 1000+ v3.0 HADHB Gene migrated from ENSG00000138029 to ENSG00000138029 (gene set migration)
Prepair 1000+ v3.0 COG6 Gene migrated from ENSG00000133103 to ENSG00000133103 (gene set migration)
Prepair 1000+ v3.0 IL7R Gene migrated from ENSG00000168685 to ENSG00000168685 (gene set migration)
Prepair 1000+ v3.0 MTFMT Gene migrated from ENSG00000103707 to ENSG00000103707 (gene set migration)
Prepair 1000+ v3.0 KIAA0586 Gene migrated from ENSG00000100578 to ENSG00000100578 (gene set migration)
Prepair 1000+ v3.0 GCH1 Gene migrated from ENSG00000131979 to ENSG00000131979 (gene set migration)
Prepair 1000+ v3.0 ALS2 Gene migrated from ENSG00000003393 to ENSG00000003393 (gene set migration)
Prepair 1000+ v3.0 FARS2 Gene migrated from ENSG00000145982 to ENSG00000145982 (gene set migration)
Prepair 1000+ v3.0 CAVIN1 Gene migrated from ENSG00000177469 to ENSG00000177469 (gene set migration)
Prepair 1000+ v3.0 C2CD3 Gene migrated from ENSG00000168014 to ENSG00000168014 (gene set migration)
Prepair 1000+ v3.0 MTRFR Gene symbol changed from C12orf65 to MTRFR during gene set migration (ENSG00000130921 -> ENSG00000130921)
Prepair 1000+ v3.0 ALG6 Gene migrated from ENSG00000088035 to ENSG00000088035 (gene set migration)
Prepair 1000+ v3.0 BBS4 Gene migrated from ENSG00000140463 to ENSG00000140463 (gene set migration)
Prepair 1000+ v3.0 BBS5 Gene migrated from ENSG00000163093 to ENSG00000163093 (gene set migration)
Prepair 1000+ v3.0 BBS7 Gene migrated from ENSG00000138686 to ENSG00000138686 (gene set migration)
Prepair 1000+ v3.0 PEX2 Gene migrated from ENSG00000164751 to ENSG00000164751 (gene set migration)
Prepair 1000+ v3.0 G6PC1 Gene symbol changed from G6PC to G6PC1 during gene set migration (ENSG00000131482 -> ENSG00000131482)
Prepair 1000+ v3.0 PEX1 Gene migrated from ENSG00000127980 to ENSG00000127980 (gene set migration)
Prepair 1000+ v3.0 GLB1 Gene migrated from ENSG00000170266 to ENSG00000170266 (gene set migration)
Prepair 1000+ v3.0 PGAP3 Gene migrated from ENSG00000161395 to ENSG00000161395 (gene set migration)
Prepair 1000+ v3.0 GOSR2 Gene migrated from ENSG00000108433 to ENSG00000108433 (gene set migration)
Prepair 1000+ v3.0 CTSA Gene migrated from ENSG00000064601 to ENSG00000064601 (gene set migration)
Prepair 1000+ v3.0 DDR2 Gene migrated from ENSG00000162733 to ENSG00000162733 (gene set migration)
Prepair 1000+ v3.0 ANKS6 Gene migrated from ENSG00000165138 to ENSG00000165138 (gene set migration)
Prepair 1000+ v3.0 NARS2 Gene migrated from ENSG00000137513 to ENSG00000137513 (gene set migration)
Prepair 1000+ v3.0 BBS9 Gene migrated from ENSG00000122507 to ENSG00000122507 (gene set migration)
Prepair 1000+ v3.0 CASR Gene migrated from ENSG00000036828 to ENSG00000036828 (gene set migration)
Prepair 1000+ v3.0 RAB33B Gene migrated from ENSG00000172007 to ENSG00000172007 (gene set migration)
Prepair 1000+ v3.0 CDH23 Gene migrated from ENSG00000107736 to ENSG00000107736 (gene set migration)
Prepair 1000+ v3.0 RARS1 Gene symbol changed from RARS to RARS1 during gene set migration (ENSG00000113643 -> ENSG00000113643)
Prepair 1000+ v3.0 DMD Gene migrated from ENSG00000198947 to ENSG00000198947 (gene set migration)
Prepair 1000+ v3.0 RBCK1 Gene migrated from ENSG00000125826 to ENSG00000125826 (gene set migration)
Prepair 1000+ v3.0 CTNS Gene migrated from ENSG00000040531 to ENSG00000040531 (gene set migration)
Prepair 1000+ v3.0 SLC35D1 Gene migrated from ENSG00000116704 to ENSG00000116704 (gene set migration)
Prepair 1000+ v3.0 CCDC39 Gene migrated from ENSG00000145075 to ENSG00000284862 (gene set migration)
Prepair 1000+ v3.0 CCDC40 Gene migrated from ENSG00000141519 to ENSG00000141519 (gene set migration)
Prepair 1000+ v3.0 RAPSN Gene migrated from ENSG00000165917 to ENSG00000165917 (gene set migration)
Prepair 1000+ v3.0 ARL13B Gene migrated from ENSG00000169379 to ENSG00000169379 (gene set migration)
Prepair 1000+ v3.0 ARSA Gene migrated from ENSG00000100299 to ENSG00000100299 (gene set migration)
Prepair 1000+ v3.0 TAP1 Gene migrated from ENSG00000168394 to ENSG00000168394 (gene set migration)
Prepair 1000+ v3.0 REN Gene migrated from ENSG00000143839 to ENSG00000143839 (gene set migration)
Prepair 1000+ v3.0 TMEM107 Gene migrated from ENSG00000179029 to ENSG00000179029 (gene set migration)
Prepair 1000+ v3.0 MOCS1 Gene migrated from ENSG00000124615 to ENSG00000124615 (gene set migration)
Prepair 1000+ v3.0 SPINK5 Gene migrated from ENSG00000133710 to ENSG00000133710 (gene set migration)
Prepair 1000+ v3.0 RDH12 Gene migrated from ENSG00000139988 to ENSG00000139988 (gene set migration)
Prepair 1000+ v3.0 TANGO2 Gene migrated from ENSG00000183597 to ENSG00000183597 (gene set migration)
Prepair 1000+ v3.0 RMND1 Gene migrated from ENSG00000155906 to ENSG00000155906 (gene set migration)
Prepair 1000+ v3.0 EXTL3 Gene migrated from ENSG00000012232 to ENSG00000012232 (gene set migration)
Prepair 1000+ v3.0 GFPT1 Gene migrated from ENSG00000198380 to ENSG00000198380 (gene set migration)
Prepair 1000+ v3.0 SDHAF1 Gene migrated from ENSG00000205138 to ENSG00000205138 (gene set migration)
Prepair 1000+ v3.0 SLC12A6 Gene migrated from ENSG00000140199 to ENSG00000140199 (gene set migration)
Prepair 1000+ v3.0 DNMT3B Gene migrated from ENSG00000088305 to ENSG00000088305 (gene set migration)
Prepair 1000+ v3.0 SQSTM1 Gene migrated from ENSG00000161011 to ENSG00000161011 (gene set migration)
Prepair 1000+ v3.0 STX11 Gene migrated from ENSG00000135604 to ENSG00000135604 (gene set migration)
Prepair 1000+ v3.0 TBC1D24 Gene migrated from ENSG00000162065 to ENSG00000162065 (gene set migration)
Prepair 1000+ v3.0 NALCN Gene migrated from ENSG00000102452 to ENSG00000102452 (gene set migration)
Prepair 1000+ v3.0 TCAP Gene migrated from ENSG00000173991 to ENSG00000173991 (gene set migration)
Prepair 1000+ v3.0 NDUFS6 Gene migrated from ENSG00000145494 to ENSG00000145494 (gene set migration)
Prepair 1000+ v3.0 NEK1 Gene migrated from ENSG00000137601 to ENSG00000137601 (gene set migration)
Prepair 1000+ v3.0 ALAD Gene migrated from ENSG00000148218 to ENSG00000148218 (gene set migration)
Prepair 1000+ v3.0 GAN Gene migrated from ENSG00000261609 to ENSG00000261609 (gene set migration)
Prepair 1000+ v3.0 GATM Gene migrated from ENSG00000171766 to ENSG00000171766 (gene set migration)
Prepair 1000+ v3.0 NPR2 Gene migrated from ENSG00000159899 to ENSG00000159899 (gene set migration)
Prepair 1000+ v3.0 DYM Gene migrated from ENSG00000141627 to ENSG00000141627 (gene set migration)
Prepair 1000+ v3.0 PCDH12 Gene migrated from ENSG00000113555 to ENSG00000113555 (gene set migration)
Prepair 1000+ v3.0 DKC1 Gene migrated from ENSG00000130826 to ENSG00000130826 (gene set migration)
Prepair 1000+ v3.0 PIGT Gene migrated from ENSG00000124155 to ENSG00000124155 (gene set migration)
Prepair 1000+ v3.0 WWOX Gene migrated from ENSG00000186153 to ENSG00000186153 (gene set migration)
Prepair 1000+ v3.0 PNPO Gene migrated from ENSG00000108439 to ENSG00000108439 (gene set migration)
Prepair 1000+ v3.0 POMGNT1 Gene migrated from ENSG00000085998 to ENSG00000085998 (gene set migration)
Prepair 1000+ v3.0 PKLR Gene migrated from ENSG00000143627 to ENSG00000143627 (gene set migration)
Prepair 1000+ v3.0 ZMPSTE24 Gene migrated from ENSG00000084073 to ENSG00000084073 (gene set migration)
Prepair 1000+ v3.0 PRG4 Gene migrated from ENSG00000116690 to ENSG00000116690 (gene set migration)
Prepair 1000+ v3.0 DCDC2 Gene migrated from ENSG00000146038 to ENSG00000146038 (gene set migration)
Prepair 1000+ v3.0 INPP5E Gene migrated from ENSG00000148384 to ENSG00000148384 (gene set migration)
Prepair 1000+ v3.0 RECQL4 Gene migrated from ENSG00000160957 to ENSG00000160957 (gene set migration)
Prepair 1000+ v3.0 KPTN Gene migrated from ENSG00000118162 to ENSG00000118162 (gene set migration)
Prepair 1000+ v3.0 KRT10 Gene migrated from ENSG00000186395 to ENSG00000186395 (gene set migration)
Prepair 1000+ v3.0 KRT14 Gene migrated from ENSG00000186847 to ENSG00000186847 (gene set migration)
Prepair 1000+ v3.0 ARX Gene migrated from ENSG00000004848 to ENSG00000004848 (gene set migration)
Prepair 1000+ v3.0 ADAMTSL2 Gene migrated from ENSG00000197859 to ENSG00000197859 (gene set migration)
Prepair 1000+ v3.0 PRUNE1 Gene migrated from ENSG00000143363 to ENSG00000143363 (gene set migration)
Prepair 1000+ v3.0 ALG1 Gene migrated from ENSG00000033011 to ENSG00000033011 (gene set migration)
Prepair 1000+ v3.0 SARS2 Gene migrated from ENSG00000104835 to ENSG00000104835 (gene set migration)
Prepair 1000+ v3.0 ADGRV1 Gene migrated from ENSG00000164199 to ENSG00000164199 (gene set migration)
Prepair 1000+ v3.0 SLC13A5 Gene migrated from ENSG00000141485 to ENSG00000141485 (gene set migration)
Prepair 1000+ v3.0 ADGRG1 Gene migrated from ENSG00000205336 to ENSG00000205336 (gene set migration)
Prepair 1000+ v3.0 SPAG1 Gene migrated from ENSG00000104450 to ENSG00000104450 (gene set migration)
Prepair 1000+ v3.0 ADA2 Gene migrated from ENSG00000093072 to ENSG00000093072 (gene set migration)
Prepair 1000+ v3.0 SPEG Gene migrated from ENSG00000072195 to ENSG00000072195 (gene set migration)
Prepair 1000+ v3.0 TBCE Gene migrated from ENSG00000116957 to ENSG00000284770 (gene set migration)
Prepair 1000+ v3.0 POR Gene migrated from ENSG00000127948 to ENSG00000127948 (gene set migration)
Prepair 1000+ v3.0 PTH1R Gene migrated from ENSG00000160801 to ENSG00000160801 (gene set migration)
Prepair 1000+ v3.0 MBOAT7 Gene migrated from ENSG00000125505 to ENSG00000125505 (gene set migration)
Prepair 1000+ v3.0 MC2R Gene migrated from ENSG00000185231 to ENSG00000185231 (gene set migration)
Prepair 1000+ v3.0 CYP4F22 Gene migrated from ENSG00000171954 to ENSG00000171954 (gene set migration)
Prepair 1000+ v3.0 MESP2 Gene migrated from ENSG00000188095 to ENSG00000188095 (gene set migration)
Prepair 1000+ v3.0 MTRR Gene migrated from ENSG00000124275 to ENSG00000124275 (gene set migration)
Prepair 1000+ v3.0 DGKE Gene migrated from ENSG00000153933 to ENSG00000153933 (gene set migration)
Prepair 1000+ v3.0 NBAS Gene migrated from ENSG00000151779 to ENSG00000151779 (gene set migration)
Prepair 1000+ v3.0 NHEJ1 Gene migrated from ENSG00000187736 to ENSG00000187736 (gene set migration)
Prepair 1000+ v3.0 CHAT Gene migrated from ENSG00000070748 to ENSG00000070748 (gene set migration)
Prepair 1000+ v3.0 DDX11 Gene migrated from ENSG00000013573 to ENSG00000013573 (gene set migration)
Prepair 1000+ v3.0 FERMT1 Gene migrated from ENSG00000101311 to ENSG00000101311 (gene set migration)
Prepair 1000+ v3.0 COX10 Gene migrated from ENSG00000006695 to ENSG00000006695 (gene set migration)
Prepair 1000+ v3.0 TSEN54 Gene migrated from ENSG00000182173 to ENSG00000182173 (gene set migration)
Prepair 1000+ v3.0 D2HGDH Gene migrated from ENSG00000180902 to ENSG00000180902 (gene set migration)
Prepair 1000+ v3.0 DCLRE1C Gene migrated from ENSG00000152457 to ENSG00000152457 (gene set migration)
Prepair 1000+ v3.0 CLDN19 Gene migrated from ENSG00000164007 to ENSG00000164007 (gene set migration)
Prepair 1000+ v3.0 EIF2B1 Gene migrated from ENSG00000111361 to ENSG00000111361 (gene set migration)
Prepair 1000+ v3.0 DOCK6 Gene migrated from ENSG00000130158 to ENSG00000130158 (gene set migration)
Prepair 1000+ v3.0 WHRN Gene migrated from ENSG00000095397 to ENSG00000095397 (gene set migration)
Prepair 1000+ v3.0 AGBL5 Gene migrated from ENSG00000084693 to ENSG00000084693 (gene set migration)
Prepair 1000+ v3.0 ELP2 Gene migrated from ENSG00000134759 to ENSG00000134759 (gene set migration)
Prepair 1000+ v3.0 MED25 Gene migrated from ENSG00000104973 to ENSG00000104973 (gene set migration)
Prepair 1000+ v3.0 AGT Gene migrated from ENSG00000135744 to ENSG00000135744 (gene set migration)
Prepair 1000+ v3.0 FBXL4 Gene migrated from ENSG00000112234 to ENSG00000112234 (gene set migration)
Prepair 1000+ v3.0 AIMP1 Gene migrated from ENSG00000164022 to ENSG00000164022 (gene set migration)
Prepair 1000+ v3.0 FOXRED1 Gene migrated from ENSG00000110074 to ENSG00000110074 (gene set migration)
Prepair 1000+ v3.0 DOCK8 Gene migrated from ENSG00000107099 to ENSG00000107099 (gene set migration)
Prepair 1000+ v3.0 CDC45 Gene migrated from ENSG00000093009 to ENSG00000093009 (gene set migration)
Prepair 1000+ v3.0 CNTNAP2 Gene migrated from ENSG00000174469 to ENSG00000174469 (gene set migration)
Prepair 1000+ v3.0 HPS6 Gene migrated from ENSG00000166189 to ENSG00000166189 (gene set migration)
Prepair 1000+ v3.0 DNAH11 Gene migrated from ENSG00000105877 to ENSG00000105877 (gene set migration)
Prepair 1000+ v3.0 TAFAZZIN Gene symbol changed from TAZ to TAFAZZIN during gene set migration (ENSG00000102125 -> ENSG00000102125)
Prepair 1000+ v3.0 DLG3 Gene migrated from ENSG00000082458 to ENSG00000082458 (gene set migration)
Prepair 1000+ v3.0 ENPP1 Gene migrated from ENSG00000197594 to ENSG00000197594 (gene set migration)
Prepair 1000+ v3.0 LRPPRC Gene migrated from ENSG00000138095 to ENSG00000138095 (gene set migration)
Prepair 1000+ v3.0 DNAAF5 Gene migrated from ENSG00000164818 to ENSG00000164818 (gene set migration)
Prepair 1000+ v3.0 TNFSF11 Gene migrated from ENSG00000120659 to ENSG00000120659 (gene set migration)
Prepair 1000+ v3.0 CTC1 Gene migrated from ENSG00000178971 to ENSG00000178971 (gene set migration)
Prepair 1000+ v3.0 EDAR Gene migrated from ENSG00000135960 to ENSG00000135960 (gene set migration)
Prepair 1000+ v3.0 CYBB Gene migrated from ENSG00000165168 to ENSG00000165168 (gene set migration)
Prepair 1000+ v3.0 LINS1 Gene migrated from ENSG00000140471 to ENSG00000140471 (gene set migration)
Prepair 1000+ v3.0 EML1 Gene migrated from ENSG00000066629 to ENSG00000066629 (gene set migration)
Prepair 1000+ v3.0 KIF1A Gene migrated from ENSG00000130294 to ENSG00000130294 (gene set migration)
Prepair 1000+ v3.0 CYP1B1 Gene migrated from ENSG00000138061 to ENSG00000138061 (gene set migration)
Prepair 1000+ v3.0 ECEL1 Gene migrated from ENSG00000171551 to ENSG00000171551 (gene set migration)
Prepair 1000+ v3.0 RTEL1 Gene migrated from ENSG00000258366 to ENSG00000258366 (gene set migration)
Prepair 1000+ v3.0 STXBP2 Gene migrated from ENSG00000076944 to ENSG00000076944 (gene set migration)
Prepair 1000+ v3.0 FBLN5 Gene migrated from ENSG00000140092 to ENSG00000140092 (gene set migration)
Prepair 1000+ v3.0 SACS Gene migrated from ENSG00000151835 to ENSG00000151835 (gene set migration)
Prepair 1000+ v3.0 SLC9A6 Gene migrated from ENSG00000198689 to ENSG00000198689 (gene set migration)
Prepair 1000+ v3.0 HTRA2 Gene migrated from ENSG00000115317 to ENSG00000115317 (gene set migration)
Prepair 1000+ v3.0 PIGG Gene migrated from ENSG00000174227 to ENSG00000174227 (gene set migration)
Prepair 1000+ v3.0 CKAP2L Gene migrated from ENSG00000169607 to ENSG00000169607 (gene set migration)
Prepair 1000+ v3.0 IFT122 Gene migrated from ENSG00000163913 to ENSG00000163913 (gene set migration)
Prepair 1000+ v3.0 HAX1 Gene migrated from ENSG00000143575 to ENSG00000143575 (gene set migration)
Prepair 1000+ v3.0 ITGB4 Gene migrated from ENSG00000132470 to ENSG00000132470 (gene set migration)
Prepair 1000+ v3.0 HPS4 Gene migrated from ENSG00000100099 to ENSG00000100099 (gene set migration)
Prepair 1000+ v3.0 PEX3 Gene migrated from ENSG00000034693 to ENSG00000034693 (gene set migration)
Prepair 1000+ v3.0 CEP120 Gene migrated from ENSG00000168944 to ENSG00000168944 (gene set migration)
Prepair 1000+ v3.0 SLC22A5 Gene migrated from ENSG00000197375 to ENSG00000197375 (gene set migration)
Prepair 1000+ v3.0 NDUFAF5 Gene migrated from ENSG00000101247 to ENSG00000101247 (gene set migration)
Prepair 1000+ v3.0 GPHN Gene migrated from ENSG00000171723 to ENSG00000171723 (gene set migration)
Prepair 1000+ v3.0 SH2D1A Gene migrated from ENSG00000183918 to ENSG00000183918 (gene set migration)
Prepair 1000+ v3.0 NDUFA1 Gene migrated from ENSG00000125356 to ENSG00000125356 (gene set migration)
Prepair 1000+ v3.0 SGSH Gene migrated from ENSG00000181523 to ENSG00000181523 (gene set migration)
Prepair 1000+ v3.0 CHSY1 Gene migrated from ENSG00000131873 to ENSG00000131873 (gene set migration)
Prepair 1000+ v3.0 MPDZ Gene migrated from ENSG00000107186 to ENSG00000107186 (gene set migration)
Prepair 1000+ v3.0 SCO2 Gene migrated from ENSG00000130489 to ENSG00000284194 (gene set migration)
Prepair 1000+ v3.0 LPIN2 Gene migrated from ENSG00000101577 to ENSG00000101577 (gene set migration)
Prepair 1000+ v3.0 RSPH9 Gene migrated from ENSG00000172426 to ENSG00000172426 (gene set migration)
Prepair 1000+ v3.0 BCS1L Gene migrated from ENSG00000074582 to ENSG00000074582 (gene set migration)
Prepair 1000+ v3.0 CLMP Gene migrated from ENSG00000166250 to ENSG00000166250 (gene set migration)
Prepair 1000+ v3.0 CLPB Gene migrated from ENSG00000162129 to ENSG00000162129 (gene set migration)
Prepair 1000+ v3.0 TPI1 Gene migrated from ENSG00000111669 to ENSG00000111669 (gene set migration)
Prepair 1000+ v3.0 TNFRSF11B Gene migrated from ENSG00000164761 to ENSG00000164761 (gene set migration)
Prepair 1000+ v3.0 ELP1 Gene migrated from ENSG00000070061 to ENSG00000070061 (gene set migration)
Prepair 1000+ v3.0 CFP Gene migrated from ENSG00000126759 to ENSG00000126759 (gene set migration)
Prepair 1000+ v3.0 QARS1 Gene symbol changed from QARS to QARS1 during gene set migration (ENSG00000172053 -> ENSG00000172053)
Prepair 1000+ v3.0 POMT1 Gene migrated from ENSG00000130714 to ENSG00000130714 (gene set migration)
Prepair 1000+ v3.0 CTSK Gene migrated from ENSG00000143387 to ENSG00000143387 (gene set migration)
Prepair 1000+ v3.0 DYNC2LI1 Gene migrated from ENSG00000138036 to ENSG00000138036 (gene set migration)
Prepair 1000+ v3.0 ERCC2 Gene migrated from ENSG00000104884 to ENSG00000104884 (gene set migration)
Prepair 1000+ v3.0 ACOX1 Gene migrated from ENSG00000161533 to ENSG00000161533 (gene set migration)
Prepair 1000+ v3.0 ALG11 Gene migrated from ENSG00000253710 to ENSG00000253710 (gene set migration)
Prepair 1000+ v3.0 ALG8 Gene migrated from ENSG00000159063 to ENSG00000159063 (gene set migration)
Prepair 1000+ v3.0 AP3B2 Gene migrated from ENSG00000103723 to ENSG00000103723 (gene set migration)
Prepair 1000+ v3.0 PUS7 Gene migrated from ENSG00000091127 to ENSG00000091127 (gene set migration)
Prepair 1000+ v3.0 TPRKB Gene migrated from ENSG00000144034 to ENSG00000144034 (gene set migration)
Prepair 1000+ v3.0 TBC1D20 Gene migrated from ENSG00000125875 to ENSG00000125875 (gene set migration)
Prepair 1000+ v3.0 TRAPPC12 Gene migrated from ENSG00000171853 to ENSG00000171853 (gene set migration)
Prepair 1000+ v3.0 MARS1 Gene symbol changed from MARS to MARS1 during gene set migration (ENSG00000166986 -> ENSG00000166986)
Prepair 1000+ v3.0 ISCA1 Gene migrated from ENSG00000135070 to ENSG00000135070 (gene set migration)
Prepair 1000+ v3.0 TMEM94 Gene migrated from ENSG00000177728 to ENSG00000177728 (gene set migration)
Prepair 1000+ v3.0 ZNF335 Gene migrated from ENSG00000198026 to ENSG00000198026 (gene set migration)
Prepair 1000+ v3.0 WNT10B Gene migrated from ENSG00000169884 to ENSG00000169884 (gene set migration)
Prepair 1000+ v3.0 UBE3B Gene migrated from ENSG00000151148 to ENSG00000151148 (gene set migration)
Prepair 1000+ v3.0 UFM1 Gene migrated from ENSG00000120686 to ENSG00000120686 (gene set migration)
Prepair 1000+ v3.0 TUSC3 Gene migrated from ENSG00000104723 to ENSG00000104723 (gene set migration)
Prepair 1000+ v3.0 TPM3 Gene migrated from ENSG00000143549 to ENSG00000143549 (gene set migration)
Prepair 1000+ v3.0 TRAPPC11 Gene migrated from ENSG00000168538 to ENSG00000168538 (gene set migration)
Prepair 1000+ v3.0 TNFRSF11A Gene migrated from ENSG00000141655 to ENSG00000141655 (gene set migration)
Prepair 1000+ v3.0 TMCO1 Gene migrated from ENSG00000143183 to ENSG00000143183 (gene set migration)
Prepair 1000+ v3.0 SYP Gene migrated from ENSG00000102003 to ENSG00000102003 (gene set migration)
Prepair 1000+ v3.0 STIM1 Gene migrated from ENSG00000167323 to ENSG00000167323 (gene set migration)
Prepair 1000+ v3.0 SRD5A3 Gene migrated from ENSG00000128039 to ENSG00000128039 (gene set migration)
Prepair 1000+ v3.0 STAT1 Gene migrated from ENSG00000115415 to ENSG00000115415 (gene set migration)
Prepair 1000+ v3.0 SNX14 Gene migrated from ENSG00000135317 to ENSG00000135317 (gene set migration)
Prepair 1000+ v3.0 SLC39A8 Gene migrated from ENSG00000138821 to ENSG00000138821 (gene set migration)
Prepair 1000+ v3.0 SLC4A4 Gene migrated from ENSG00000080493 to ENSG00000080493 (gene set migration)
Prepair 1000+ v3.0 SLC2A2 Gene migrated from ENSG00000163581 to ENSG00000163581 (gene set migration)
Prepair 1000+ v3.0 SLC16A1 Gene migrated from ENSG00000155380 to ENSG00000155380 (gene set migration)
Prepair 1000+ v3.0 SH3PXD2B Gene migrated from ENSG00000174705 to ENSG00000174705 (gene set migration)
Prepair 1000+ v3.0 SETX Gene migrated from ENSG00000107290 to ENSG00000107290 (gene set migration)
Prepair 1000+ v3.0 SCNN1B Gene migrated from ENSG00000168447 to ENSG00000168447 (gene set migration)
Prepair 1000+ v3.0 SCN9A Gene migrated from ENSG00000169432 to ENSG00000169432 (gene set migration)
Prepair 1000+ v3.0 RRM2B Gene migrated from ENSG00000048392 to ENSG00000048392 (gene set migration)
Prepair 1000+ v3.0 ROGDI Gene migrated from ENSG00000067836 to ENSG00000067836 (gene set migration)
Prepair 1000+ v3.0 RLIM Gene migrated from ENSG00000131263 to ENSG00000131263 (gene set migration)
Prepair 1000+ v3.0 RETREG1 Gene migrated from ENSG00000154153 to ENSG00000154153 (gene set migration)
Prepair 1000+ v3.0 PYROXD1 Gene migrated from ENSG00000121350 to ENSG00000121350 (gene set migration)
Prepair 1000+ v3.0 PYCR2 Gene migrated from ENSG00000143811 to ENSG00000143811 (gene set migration)
Prepair 1000+ v3.0 PROC Gene migrated from ENSG00000115718 to ENSG00000115718 (gene set migration)
Prepair 1000+ v3.0 PRKRA Gene migrated from ENSG00000180228 to ENSG00000180228 (gene set migration)
Prepair 1000+ v3.0 CUL4B Gene migrated from ENSG00000158290 to ENSG00000158290 (gene set migration)
Prepair 1000+ v3.0 CFL2 Gene migrated from ENSG00000165410 to ENSG00000165410 (gene set migration)
Prepair 1000+ v3.0 POC1A Gene migrated from ENSG00000164087 to ENSG00000164087 (gene set migration)
Prepair 1000+ v3.0 PIGL Gene migrated from ENSG00000108474 to ENSG00000108474 (gene set migration)
Prepair 1000+ v3.0 PIEZO2 Gene migrated from ENSG00000154864 to ENSG00000154864 (gene set migration)
Prepair 1000+ v3.0 PHF6 Gene migrated from ENSG00000156531 to ENSG00000156531 (gene set migration)
Prepair 1000+ v3.0 PLG Gene migrated from ENSG00000122194 to ENSG00000122194 (gene set migration)
Prepair 1000+ v3.0 NUBPL Gene migrated from ENSG00000151413 to ENSG00000151413 (gene set migration)
Prepair 1000+ v3.0 NT5C2 Gene migrated from ENSG00000076685 to ENSG00000076685 (gene set migration)
Prepair 1000+ v3.0 NMNAT1 Gene migrated from ENSG00000173614 to ENSG00000173614 (gene set migration)
Prepair 1000+ v3.0 NIPAL4 Gene migrated from ENSG00000172548 to ENSG00000172548 (gene set migration)
Prepair 1000+ v3.0 NEXMIF Gene migrated from ENSG00000050030 to ENSG00000050030 (gene set migration)
Prepair 1000+ v3.0 NDUFA10 Gene migrated from ENSG00000130414 to ENSG00000130414 (gene set migration)
Prepair 1000+ v3.0 MMP21 Gene migrated from ENSG00000154485 to ENSG00000154485 (gene set migration)
Prepair 1000+ v3.0 MGP Gene migrated from ENSG00000111341 to ENSG00000111341 (gene set migration)
Prepair 1000+ v3.0 MERTK Gene migrated from ENSG00000153208 to ENSG00000153208 (gene set migration)
Prepair 1000+ v3.0 MARS2 Gene migrated from ENSG00000247626 to ENSG00000247626 (gene set migration)
Prepair 1000+ v3.0 MAOA Gene migrated from ENSG00000189221 to ENSG00000189221 (gene set migration)
Prepair 1000+ v3.0 LTBP4 Gene migrated from ENSG00000090006 to ENSG00000090006 (gene set migration)
Prepair 1000+ v3.0 LRBA Gene migrated from ENSG00000198589 to ENSG00000198589 (gene set migration)
Prepair 1000+ v3.0 LAMC3 Gene migrated from ENSG00000050555 to ENSG00000050555 (gene set migration)
Prepair 1000+ v3.0 LARP7 Gene migrated from ENSG00000174720 to ENSG00000174720 (gene set migration)
Prepair 1000+ v3.0 KNL1 Gene migrated from ENSG00000137812 to ENSG00000137812 (gene set migration)
Prepair 1000+ v3.0 KLHL7 Gene migrated from ENSG00000122550 to ENSG00000122550 (gene set migration)
Prepair 1000+ v3.0 JUP Gene migrated from ENSG00000173801 to ENSG00000173801 (gene set migration)
Prepair 1000+ v3.0 IL10RB Gene migrated from ENSG00000243646 to ENSG00000243646 (gene set migration)
Prepair 1000+ v3.0 IL12RB1 Gene migrated from ENSG00000096996 to ENSG00000096996 (gene set migration)
Prepair 1000+ v3.0 IL17RA Gene migrated from ENSG00000177663 to ENSG00000177663 (gene set migration)
Prepair 1000+ v3.0 HSPD1 Gene migrated from ENSG00000144381 to ENSG00000144381 (gene set migration)
Prepair 1000+ v3.0 HYDIN Gene migrated from ENSG00000157423 to ENSG00000157423 (gene set migration)
Prepair 1000+ v3.0 PIEZO1 Gene migrated from ENSG00000103335 to ENSG00000103335 (gene set migration)
Prepair 1000+ v3.0 HOXA1 Gene migrated from ENSG00000105991 to ENSG00000105991 (gene set migration)
Prepair 1000+ v3.0 HINT1 Gene migrated from ENSG00000169567 to ENSG00000169567 (gene set migration)
Prepair 1000+ v3.0 HERC2 Gene migrated from ENSG00000128731 to ENSG00000128731 (gene set migration)
Prepair 1000+ v3.0 HES7 Gene migrated from ENSG00000179111 to ENSG00000179111 (gene set migration)
Prepair 1000+ v3.0 GPT2 Gene migrated from ENSG00000166123 to ENSG00000166123 (gene set migration)
Prepair 1000+ v3.0 GPAA1 Gene migrated from ENSG00000197858 to ENSG00000197858 (gene set migration)
Prepair 1000+ v3.0 PSAT1 Gene migrated from ENSG00000135069 to ENSG00000135069 (gene set migration)
Prepair 1000+ v3.0 DENND5A Gene migrated from ENSG00000184014 to ENSG00000184014 (gene set migration)
Prepair 1000+ v3.0 GMPPA Gene migrated from ENSG00000144591 to ENSG00000144591 (gene set migration)
Prepair 1000+ v3.0 FOXE3 Gene migrated from ENSG00000186790 to ENSG00000186790 (gene set migration)
Prepair 1000+ v3.0 FLVCR1 Gene migrated from ENSG00000162769 to ENSG00000162769 (gene set migration)
Prepair 1000+ v3.0 FOLR1 Gene migrated from ENSG00000110195 to ENSG00000110195 (gene set migration)
Prepair 1000+ v3.0 FLAD1 Gene migrated from ENSG00000160688 to ENSG00000160688 (gene set migration)
Prepair 1000+ v3.0 FKBP14 Gene migrated from ENSG00000106080 to ENSG00000106080 (gene set migration)
Prepair 1000+ v3.0 FIG4 Gene migrated from ENSG00000112367 to ENSG00000112367 (gene set migration)
Prepair 1000+ v3.0 FA2H Gene migrated from ENSG00000103089 to ENSG00000103089 (gene set migration)
Prepair 1000+ v3.0 EOGT Gene migrated from ENSG00000163378 to ENSG00000163378 (gene set migration)
Prepair 1000+ v3.0 ELAC2 Gene migrated from ENSG00000006744 to ENSG00000006744 (gene set migration)
Prepair 1000+ v3.0 EFNB1 Gene migrated from ENSG00000090776 to ENSG00000090776 (gene set migration)
Prepair 1000+ v3.0 EARS2 Gene migrated from ENSG00000103356 to ENSG00000103356 (gene set migration)
Prepair 1000+ v3.0 DSP Gene migrated from ENSG00000096696 to ENSG00000096696 (gene set migration)
Prepair 1000+ v3.0 DOLK Gene migrated from ENSG00000175283 to ENSG00000175283 (gene set migration)
Prepair 1000+ v3.0 DNAAF1 Gene migrated from ENSG00000154099 to ENSG00000154099 (gene set migration)
Prepair 1000+ v3.0 DNAAF3 Gene migrated from ENSG00000167646 to ENSG00000167646 (gene set migration)
Prepair 1000+ v3.0 DDHD2 Gene migrated from ENSG00000085788 to ENSG00000085788 (gene set migration)
Prepair 1000+ v3.0 DARS1 Gene symbol changed from DARS to DARS1 during gene set migration (ENSG00000115866 -> ENSG00000115866)
Prepair 1000+ v3.0 DCHS1 Gene migrated from ENSG00000166341 to ENSG00000166341 (gene set migration)
Prepair 1000+ v3.0 DOCK2 Gene migrated from ENSG00000134516 to ENSG00000134516 (gene set migration)
Prepair 1000+ v3.0 CYB5R3 Gene migrated from ENSG00000100243 to ENSG00000100243 (gene set migration)
Prepair 1000+ v3.0 COX20 Gene migrated from ENSG00000203667 to ENSG00000203667 (gene set migration)
Prepair 1000+ v3.0 COQ8B Gene migrated from ENSG00000123815 to ENSG00000123815 (gene set migration)
Prepair 1000+ v3.0 COQ8A Gene migrated from ENSG00000163050 to ENSG00000163050 (gene set migration)
Prepair 1000+ v3.0 COQ4 Gene migrated from ENSG00000167113 to ENSG00000167113 (gene set migration)
Prepair 1000+ v3.0 COL6A3 Gene migrated from ENSG00000163359 to ENSG00000163359 (gene set migration)
Prepair 1000+ v3.0 DNAJC12 Gene migrated from ENSG00000108176 to ENSG00000108176 (gene set migration)
Prepair 1000+ v3.0 CLDN1 Gene migrated from ENSG00000163347 to ENSG00000163347 (gene set migration)
Prepair 1000+ v3.0 CIT Gene migrated from ENSG00000122966 to ENSG00000122966 (gene set migration)
Prepair 1000+ v3.0 CLCF1 Gene migrated from ENSG00000175505 to ENSG00000175505 (gene set migration)
Prepair 1000+ v3.0 ERCC6 Gene migrated from ENSG00000225830 to ENSG00000225830 (gene set migration)
Prepair 1000+ v3.0 HPS1 Gene migrated from ENSG00000107521 to ENSG00000107521 (gene set migration)
Prepair 1000+ v3.0 GMPPB Gene migrated from ENSG00000173540 to ENSG00000173540 (gene set migration)
Prepair 1000+ v3.0 CHRNA1 Gene migrated from ENSG00000138435 to ENSG00000138435 (gene set migration)
Prepair 1000+ v3.0 CFI Gene migrated from ENSG00000205403 to ENSG00000205403 (gene set migration)
Prepair 1000+ v3.0 CEP78 Gene migrated from ENSG00000148019 to ENSG00000148019 (gene set migration)
Prepair 1000+ v3.0 CFH Gene migrated from ENSG00000000971 to ENSG00000000971 (gene set migration)
Prepair 1000+ v3.0 CDT1 Gene migrated from ENSG00000167513 to ENSG00000167513 (gene set migration)
Prepair 1000+ v3.0 MRE11 Gene migrated from ENSG00000020922 to ENSG00000020922 (gene set migration)
Prepair 1000+ v3.0 ALDH18A1 Gene migrated from ENSG00000059573 to ENSG00000059573 (gene set migration)
Prepair 1000+ v3.0 C1QB Gene migrated from ENSG00000173369 to ENSG00000173369 (gene set migration)
Prepair 1000+ v3.0 CFAP410 Gene symbol changed from C21orf2 to CFAP410 during gene set migration (ENSG00000160226 -> ENSG00000160226)
Prepair 1000+ v3.0 C5 Gene migrated from ENSG00000106804 to ENSG00000106804 (gene set migration)
Prepair 1000+ v3.0 C3 Gene migrated from ENSG00000125730 to ENSG00000125730 (gene set migration)
Prepair 1000+ v3.0 EXOSC3 Gene migrated from ENSG00000107371 to ENSG00000107371 (gene set migration)
Prepair 1000+ v3.0 BIN1 Gene migrated from ENSG00000136717 to ENSG00000136717 (gene set migration)
Prepair 1000+ v3.0 ALDH1A3 Gene migrated from ENSG00000184254 to ENSG00000184254 (gene set migration)
Prepair 1000+ v3.0 BGN Gene migrated from ENSG00000182492 to ENSG00000182492 (gene set migration)
Prepair 1000+ v3.0 LHX3 Gene migrated from ENSG00000107187 to ENSG00000107187 (gene set migration)
Prepair 1000+ v3.0 B4GALNT1 Gene migrated from ENSG00000135454 to ENSG00000135454 (gene set migration)
Prepair 1000+ v3.0 B3GALT6 Gene migrated from ENSG00000176022 to ENSG00000176022 (gene set migration)
Prepair 1000+ v3.0 ARSB Gene migrated from ENSG00000113273 to ENSG00000113273 (gene set migration)
Prepair 1000+ v3.0 ARV1 Gene migrated from ENSG00000173409 to ENSG00000173409 (gene set migration)
Prepair 1000+ v3.0 ARPC1B Gene migrated from ENSG00000130429 to ENSG00000130429 (gene set migration)
Prepair 1000+ v3.0 COA8 Gene symbol changed from APOPT1 to COA8 during gene set migration (ENSG00000256053 -> ENSG00000256053)
Prepair 1000+ v3.0 AP4M1 Gene migrated from ENSG00000221838 to ENSG00000221838 (gene set migration)
Prepair 1000+ v3.0 CD55 Gene migrated from ENSG00000196352 to ENSG00000196352 (gene set migration)
Prepair 1000+ v3.0 FOXN1 Gene migrated from ENSG00000109101 to ENSG00000109101 (gene set migration)
Prepair 1000+ v3.0 GJA1 Gene migrated from ENSG00000152661 to ENSG00000152661 (gene set migration)
Prepair 1000+ v3.0 POP1 Gene migrated from ENSG00000104356 to ENSG00000104356 (gene set migration)
Prepair 1000+ v3.0 POMGNT2 Gene migrated from ENSG00000144647 to ENSG00000144647 (gene set migration)
Prepair 1000+ v3.0 CDH11 Gene migrated from ENSG00000140937 to ENSG00000140937 (gene set migration)
Prepair 1000+ v3.0 ZMYND10 Gene migrated from ENSG00000004838 to ENSG00000004838 (gene set migration)
Prepair 1000+ v3.0 CCNO Gene migrated from ENSG00000152669 to ENSG00000152669 (gene set migration)
Prepair 1000+ v3.0 GLYCTK Gene migrated from ENSG00000168237 to ENSG00000168237 (gene set migration)
Prepair 1000+ v3.0 VMA22 Gene symbol changed from CCDC115 to VMA22 during gene set migration (ENSG00000136710 -> ENSG00000136710)
Prepair 1000+ v3.0 CD27 Gene migrated from ENSG00000139193 to ENSG00000139193 (gene set migration)
Prepair 1000+ v3.0 GLIS3 Gene migrated from ENSG00000107249 to ENSG00000107249 (gene set migration)
Prepair 1000+ v3.0 GPSM2 Gene migrated from ENSG00000121957 to ENSG00000121957 (gene set migration)
Prepair 1000+ v3.0 HSPG2 Gene migrated from ENSG00000142798 to ENSG00000142798 (gene set migration)
Prepair 1000+ v3.0 LMOD3 Gene migrated from ENSG00000163380 to ENSG00000163380 (gene set migration)
Prepair 1000+ v3.0 UBE2T Gene migrated from ENSG00000077152 to ENSG00000077152 (gene set migration)
Prepair 1000+ v3.0 KATNB1 Gene migrated from ENSG00000140854 to ENSG00000140854 (gene set migration)
Prepair 1000+ v3.0 ATP6V0A4 Gene migrated from ENSG00000105929 to ENSG00000105929 (gene set migration)
Prepair 1000+ v3.0 LDHA Gene migrated from ENSG00000134333 to ENSG00000134333 (gene set migration)
Prepair 1000+ v3.0 B4GALT7 Gene migrated from ENSG00000027847 to ENSG00000027847 (gene set migration)
Prepair 1000+ v3.0 BRF1 Gene migrated from ENSG00000185024 to ENSG00000185024 (gene set migration)
Prepair 1000+ v3.0 BTK Gene migrated from ENSG00000010671 to ENSG00000010671 (gene set migration)
Prepair 1000+ v3.0 CEP152 Gene migrated from ENSG00000103995 to ENSG00000103995 (gene set migration)
Prepair 1000+ v3.0 C1QC Gene migrated from ENSG00000159189 to ENSG00000159189 (gene set migration)
Prepair 1000+ v3.0 CERS3 Gene migrated from ENSG00000154227 to ENSG00000154227 (gene set migration)
Prepair 1000+ v3.0 G6PC3 Gene migrated from ENSG00000141349 to ENSG00000141349 (gene set migration)
Prepair 1000+ v3.0 CFTR Gene migrated from ENSG00000001626 to ENSG00000001626 (gene set migration)
Prepair 1000+ v3.0 CRPPA Gene symbol changed from ISPD to CRPPA during gene set migration (ENSG00000214960 -> ENSG00000214960)
Prepair 1000+ v3.0 MEGF8 Gene migrated from ENSG00000105429 to ENSG00000105429 (gene set migration)
Prepair 1000+ v3.0 MOCS2 Gene migrated from ENSG00000164172 to ENSG00000164172 (gene set migration)
Prepair 1000+ v3.0 NGLY1 Gene migrated from ENSG00000151092 to ENSG00000151092 (gene set migration)
Prepair 1000+ v3.0 NKX3-2 Gene migrated from ENSG00000109705 to ENSG00000109705 (gene set migration)
Prepair 1000+ v3.0 OBSL1 Gene migrated from ENSG00000124006 to ENSG00000124006 (gene set migration)
Prepair 1000+ v3.0 PGM1 Gene migrated from ENSG00000079739 to ENSG00000079739 (gene set migration)
Prepair 1000+ v3.0 ORC1 Gene migrated from ENSG00000085840 to ENSG00000085840 (gene set migration)
Prepair 1000+ v3.0 PGM3 Gene migrated from ENSG00000013375 to ENSG00000013375 (gene set migration)
Prepair 1000+ v3.0 PIGA Gene migrated from ENSG00000165195 to ENSG00000165195 (gene set migration)
Prepair 1000+ v3.0 PLPBP Gene migrated from ENSG00000147471 to ENSG00000147471 (gene set migration)
Prepair 1000+ v3.0 PMM2 Gene migrated from ENSG00000140650 to ENSG00000140650 (gene set migration)
Prepair 1000+ v3.0 RIN2 Gene migrated from ENSG00000132669 to ENSG00000132669 (gene set migration)
Prepair 1000+ v3.0 SUCLG1 Gene migrated from ENSG00000163541 to ENSG00000163541 (gene set migration)
Prepair 1000+ v3.0 TPK1 Gene migrated from ENSG00000196511 to ENSG00000196511 (gene set migration)
Prepair 1000+ v3.0 TUBGCP4 Gene migrated from ENSG00000137822 to ENSG00000137822 (gene set migration)
Prepair 1000+ v3.0 TUFM Gene migrated from ENSG00000178952 to ENSG00000178952 (gene set migration)
Prepair 1000+ v3.0 WDR45B Gene migrated from ENSG00000141580 to ENSG00000141580 (gene set migration)
Prepair 1000+ v3.0 WNT1 Gene migrated from ENSG00000125084 to ENSG00000125084 (gene set migration)
Prepair 1000+ v3.0 CPT2 Gene migrated from ENSG00000157184 to ENSG00000157184 (gene set migration)
Prepair 1000+ v3.0 DHODH Gene migrated from ENSG00000102967 to ENSG00000102967 (gene set migration)
Prepair 1000+ v3.0 ADAT3 Gene migrated from ENSG00000213638 to ENSG00000213638 (gene set migration)
Prepair 1000+ v3.0 CYP11A1 Gene migrated from ENSG00000140459 to ENSG00000140459 (gene set migration)
Prepair 1000+ v3.0 ODAD2 Gene symbol changed from ARMC4 to ODAD2 during gene set migration (ENSG00000169126 -> ENSG00000169126)
Prepair 1000+ v3.0 BUB1B Gene migrated from ENSG00000156970 to ENSG00000156970 (gene set migration)
Prepair 1000+ v3.0 C12orf57 Gene migrated from ENSG00000111678 to ENSG00000111678 (gene set migration)
Prepair 1000+ v3.0 CHST3 Gene migrated from ENSG00000122863 to ENSG00000122863 (gene set migration)
Prepair 1000+ v3.0 CNTNAP1 Gene migrated from ENSG00000108797 to ENSG00000108797 (gene set migration)
Prepair 1000+ v3.0 COG7 Gene migrated from ENSG00000168434 to ENSG00000168434 (gene set migration)
Prepair 1000+ v3.0 CYP2U1 Gene migrated from ENSG00000155016 to ENSG00000155016 (gene set migration)
Prepair 1000+ v3.0 DCX Gene migrated from ENSG00000077279 to ENSG00000077279 (gene set migration)
Prepair 1000+ v3.0 DDX59 Gene migrated from ENSG00000118197 to ENSG00000118197 (gene set migration)
Prepair 1000+ v3.0 EIF2AK3 Gene migrated from ENSG00000172071 to ENSG00000172071 (gene set migration)
Prepair 1000+ v3.0 ASPM Gene migrated from ENSG00000066279 to ENSG00000066279 (gene set migration)
Prepair 1000+ v3.0 AGRN Gene migrated from ENSG00000188157 to ENSG00000188157 (gene set migration)
Prepair 1000+ v3.0 ATAD1 Gene migrated from ENSG00000138138 to ENSG00000138138 (gene set migration)
Prepair 1000+ v3.0 ATP8A2 Gene migrated from ENSG00000132932 to ENSG00000132932 (gene set migration)
Prepair 1000+ v3.0 ABCA3 Gene migrated from ENSG00000167972 to ENSG00000167972 (gene set migration)
Prepair 1000+ v3.0 CTSC Gene migrated from ENSG00000109861 to ENSG00000109861 (gene set migration)
Prepair 1000+ v3.0 DNAAF19 Gene symbol changed from CCDC103 to DNAAF19 during gene set migration (ENSG00000167131 -> ENSG00000167131)
Prepair 1000+ v3.0 AKR1D1 Gene migrated from ENSG00000122787 to ENSG00000122787 (gene set migration)
Prepair 1000+ v3.0 ALG9 Gene migrated from ENSG00000086848 to ENSG00000086848 (gene set migration)
Prepair 1000+ v3.0 ATOH7 Gene migrated from ENSG00000179774 to ENSG00000179774 (gene set migration)
Prepair 1000+ v3.0 CNGB3 Gene migrated from ENSG00000170289 to ENSG00000170289 (gene set migration)
Prepair 1000+ v3.0 B3GAT3 Gene migrated from ENSG00000149541 to ENSG00000149541 (gene set migration)
Prepair 1000+ v3.0 CLN6 Gene migrated from ENSG00000128973 to ENSG00000128973 (gene set migration)
Prepair 1000+ v3.0 CNNM4 Gene migrated from ENSG00000158158 to ENSG00000158158 (gene set migration)
Prepair 1000+ v3.0 MPZ Gene migrated from ENSG00000158887 to ENSG00000158887 (gene set migration)
Prepair 1000+ v3.0 PIGV Gene migrated from ENSG00000060642 to ENSG00000060642 (gene set migration)
Prepair 1000+ v3.0 TRAPPC9 Gene migrated from ENSG00000167632 to ENSG00000167632 (gene set migration)
Prepair 1000+ v3.0 WNK1 Gene migrated from ENSG00000060237 to ENSG00000060237 (gene set migration)
Prepair 1000+ v3.0 WNT7A Gene migrated from ENSG00000154764 to ENSG00000154764 (gene set migration)
Prepair 1000+ v3.0 EPM2A Gene migrated from ENSG00000112425 to ENSG00000112425 (gene set migration)
Prepair 1000+ v3.0 ZAP70 Gene migrated from ENSG00000115085 to ENSG00000115085 (gene set migration)
Prepair 1000+ v3.0 ZC4H2 Gene migrated from ENSG00000126970 to ENSG00000126970 (gene set migration)
Prepair 1000+ v3.0 ISCA2 Gene migrated from ENSG00000165898 to ENSG00000165898 (gene set migration)
Prepair 1000+ v3.0 PHF8 Gene migrated from ENSG00000172943 to ENSG00000172943 (gene set migration)
Prepair 1000+ v3.0 IL1RAPL1 Gene migrated from ENSG00000169306 to ENSG00000169306 (gene set migration)
Prepair 1000+ v3.0 KIF1C Gene migrated from ENSG00000129250 to ENSG00000129250 (gene set migration)
Prepair 1000+ v3.0 TXNL4A Gene migrated from ENSG00000141759 to ENSG00000141759 (gene set migration)
Prepair 1000+ v3.0 SYN1 Gene migrated from ENSG00000008056 to ENSG00000008056 (gene set migration)
Prepair 1000+ v3.0 NDUFV1 Gene migrated from ENSG00000167792 to ENSG00000167792 (gene set migration)
Prepair 1000+ v3.0 NHLRC1 Gene migrated from ENSG00000187566 to ENSG00000187566 (gene set migration)
Prepair 1000+ v3.0 KRT5 Gene migrated from ENSG00000186081 to ENSG00000186081 (gene set migration)
Prepair 1000+ v3.0 TCTN3 Gene migrated from ENSG00000119977 to ENSG00000119977 (gene set migration)
Prepair 1000+ v3.0 FREM1 Gene migrated from ENSG00000164946 to ENSG00000164946 (gene set migration)
Prepair 1000+ v3.0 TREX1 Gene migrated from ENSG00000213689 to ENSG00000213689 (gene set migration)
Prepair 1000+ v3.0 MECP2 Gene migrated from ENSG00000169057 to ENSG00000169057 (gene set migration)
Prepair 1000+ v3.0 UROS Gene migrated from ENSG00000188690 to ENSG00000188690 (gene set migration)
Prepair 1000+ v3.0 MED23 Gene migrated from ENSG00000112282 to ENSG00000112282 (gene set migration)
Prepair 1000+ v3.0 MFSD2A Gene migrated from ENSG00000168389 to ENSG00000168389 (gene set migration)
Prepair 1000+ v3.0 MKKS Gene migrated from ENSG00000125863 to ENSG00000125863 (gene set migration)
Prepair 1000+ v3.0 DHDDS Gene migrated from ENSG00000117682 to ENSG00000117682 (gene set migration)
Prepair 1000+ v3.0 FTO Gene migrated from ENSG00000140718 to ENSG00000140718 (gene set migration)
Prepair 1000+ v3.0 GNAT2 Gene migrated from ENSG00000134183 to ENSG00000134183 (gene set migration)
Prepair 1000+ v3.0 COL17A1 Gene migrated from ENSG00000065618 to ENSG00000065618 (gene set migration)
Prepair 1000+ v3.0 GPC6 Gene migrated from ENSG00000183098 to ENSG00000183098 (gene set migration)
Prepair 1000+ v3.0 CLCN4 Gene migrated from ENSG00000073464 to ENSG00000073464 (gene set migration)
Prepair 1000+ v3.0 CIITA Gene migrated from ENSG00000179583 to ENSG00000179583 (gene set migration)
Prepair 1000+ v3.0 CEP290 Gene migrated from ENSG00000198707 to ENSG00000198707 (gene set migration)
Prepair 1000+ v3.0 IFNGR2 Gene migrated from ENSG00000159128 to ENSG00000159128 (gene set migration)
Prepair 1000+ v3.0 CDK10 Gene migrated from ENSG00000185324 to ENSG00000185324 (gene set migration)
Prepair 1000+ v3.0 EIF2B4 Gene migrated from ENSG00000115211 to ENSG00000115211 (gene set migration)
Prepair 1000+ v3.0 UGT1A1 Gene migrated from ENSG00000241635 to ENSG00000241635 (gene set migration)
Prepair 1000+ v3.0 CARD11 Gene migrated from ENSG00000198286 to ENSG00000198286 (gene set migration)
Prepair 1000+ v3.0 TRIM37 Gene migrated from ENSG00000108395 to ENSG00000108395 (gene set migration)
Prepair 1000+ v3.0 TGM1 Gene migrated from ENSG00000092295 to ENSG00000092295 (gene set migration)
Prepair 1000+ v3.0 TDRD7 Gene migrated from ENSG00000196116 to ENSG00000196116 (gene set migration)
Prepair 1000+ v3.0 TCTN2 Gene migrated from ENSG00000168778 to ENSG00000168778 (gene set migration)
Prepair 1000+ v3.0 TBCD Gene migrated from ENSG00000141556 to ENSG00000141556 (gene set migration)
Prepair 1000+ v3.0 STUB1 Gene migrated from ENSG00000103266 to ENSG00000103266 (gene set migration)
Prepair 1000+ v3.0 C19orf12 Gene migrated from ENSG00000131943 to ENSG00000131943 (gene set migration)
Prepair 1000+ v3.0 SLC5A7 Gene migrated from ENSG00000115665 to ENSG00000115665 (gene set migration)
Prepair 1000+ v3.0 MTHFR Gene migrated from ENSG00000177000 to ENSG00000177000 (gene set migration)
Prepair 1000+ v3.0 LDLRAP1 Gene migrated from ENSG00000157978 to ENSG00000157978 (gene set migration)
Prepair 1000+ v3.0 IFT80 Gene migrated from ENSG00000068885 to ENSG00000068885 (gene set migration)
Prepair 1000+ v3.0 SLC39A14 Gene migrated from ENSG00000104635 to ENSG00000104635 (gene set migration)
Prepair 1000+ v3.0 SLC35A3 Gene migrated from ENSG00000117620 to ENSG00000117620 (gene set migration)
Prepair 1000+ v3.0 SAR1B Gene migrated from ENSG00000152700 to ENSG00000152700 (gene set migration)
Prepair 1000+ v3.0 LMBRD1 Gene migrated from ENSG00000168216 to ENSG00000168216 (gene set migration)
Prepair 1000+ v3.0 ZDHHC9 Gene migrated from ENSG00000188706 to ENSG00000188706 (gene set migration)
Prepair 1000+ v3.0 VSX2 Gene migrated from ENSG00000119614 to ENSG00000119614 (gene set migration)
Prepair 1000+ v3.0 VPS53 Gene migrated from ENSG00000141252 to ENSG00000141252 (gene set migration)
Prepair 1000+ v3.0 RPGRIP1 Gene migrated from ENSG00000092200 to ENSG00000092200 (gene set migration)
Prepair 1000+ v3.0 ACO2 Gene migrated from ENSG00000100412 to ENSG00000100412 (gene set migration)
Prepair 1000+ v3.0 MCPH1 Gene migrated from ENSG00000147316 to ENSG00000147316 (gene set migration)
Prepair 1000+ v3.0 MTO1 Gene migrated from ENSG00000135297 to ENSG00000135297 (gene set migration)
Prepair 1000+ v3.0 MVK Gene migrated from ENSG00000110921 to ENSG00000110921 (gene set migration)
Prepair 1000+ v3.0 MYO5B Gene migrated from ENSG00000167306 to ENSG00000167306 (gene set migration)
Prepair 1000+ v3.0 RTTN Gene migrated from ENSG00000176225 to ENSG00000176225 (gene set migration)
Prepair 1000+ v3.0 SBF2 Gene migrated from ENSG00000133812 to ENSG00000133812 (gene set migration)
Prepair 1000+ v3.0 LCA5 Gene migrated from ENSG00000135338 to ENSG00000135338 (gene set migration)
Prepair 1000+ v3.0 ODAD1 Gene symbol changed from CCDC114 to ODAD1 during gene set migration (ENSG00000105479 -> ENSG00000105479)
Prepair 1000+ v3.0 B3GALNT2 Gene migrated from ENSG00000162885 to ENSG00000162885 (gene set migration)
Prepair 1000+ v3.0 MAN1B1 Gene migrated from ENSG00000177239 to ENSG00000177239 (gene set migration)
Prepair 1000+ v3.0 CCDC8 Gene migrated from ENSG00000169515 to ENSG00000169515 (gene set migration)
Prepair 1000+ v3.0 COQ6 Gene migrated from ENSG00000119723 to ENSG00000119723 (gene set migration)
Prepair 1000+ v3.0 SERPINF1 Gene migrated from ENSG00000132386 to ENSG00000132386 (gene set migration)
Prepair 1000+ v3.0 FAT4 Gene migrated from ENSG00000196159 to ENSG00000196159 (gene set migration)
Prepair 1000+ v3.0 COQ2 Gene migrated from ENSG00000173085 to ENSG00000173085 (gene set migration)
Prepair 1000+ v3.0 MASP1 Gene migrated from ENSG00000127241 to ENSG00000127241 (gene set migration)
Prepair 1000+ v3.0 MPI Gene migrated from ENSG00000178802 to ENSG00000178802 (gene set migration)
Prepair 1000+ v3.0 FKTN Gene migrated from ENSG00000106692 to ENSG00000106692 (gene set migration)
Prepair 1000+ v3.0 GDF5 Gene migrated from ENSG00000125965 to ENSG00000125965 (gene set migration)
Prepair 1000+ v3.0 HSD17B10 Gene migrated from ENSG00000072506 to ENSG00000072506 (gene set migration)
Prepair 1000+ v3.0 FANCC Gene migrated from ENSG00000158169 to ENSG00000158169 (gene set migration)
Prepair 1000+ v3.0 SC5D Gene migrated from ENSG00000109929 to ENSG00000109929 (gene set migration)
Prepair 1000+ v3.0 IARS1 Gene symbol changed from IARS to IARS1 during gene set migration (ENSG00000196305 -> ENSG00000196305)
Prepair 1000+ v3.0 RSPH1 Gene migrated from ENSG00000160188 to ENSG00000160188 (gene set migration)
Prepair 1000+ v3.0 SFTPB Gene migrated from ENSG00000168878 to ENSG00000168878 (gene set migration)
Prepair 1000+ v3.0 ICOS Gene migrated from ENSG00000163600 to ENSG00000163600 (gene set migration)
Prepair 1000+ v3.0 SUOX Gene migrated from ENSG00000139531 to ENSG00000139531 (gene set migration)
Prepair 1000+ v3.0 TWNK Gene migrated from ENSG00000107815 to ENSG00000107815 (gene set migration)
Prepair 1000+ v3.0 UMPS Gene migrated from ENSG00000114491 to ENSG00000114491 (gene set migration)
Prepair 1000+ v3.0 TMEM138 Gene migrated from ENSG00000149483 to ENSG00000149483 (gene set migration)
Prepair 1000+ v3.0 AK2 Gene migrated from ENSG00000004455 to ENSG00000004455 (gene set migration)
Prepair 1000+ v3.0 ALDH3A2 Gene migrated from ENSG00000072210 to ENSG00000072210 (gene set migration)
Prepair 1000+ v3.0 WDR19 Gene migrated from ENSG00000157796 to ENSG00000157796 (gene set migration)
Prepair 1000+ v3.0 ITGB2 Gene migrated from ENSG00000160255 to ENSG00000160255 (gene set migration)
Prepair 1000+ v3.0 ALG12 Gene migrated from ENSG00000182858 to ENSG00000182858 (gene set migration)
Prepair 1000+ v3.0 SGCD Gene migrated from ENSG00000170624 to ENSG00000170624 (gene set migration)
Prepair 1000+ v3.0 COL4A5 Gene migrated from ENSG00000188153 to ENSG00000188153 (gene set migration)
Prepair 1000+ v3.0 TMEM126A Gene migrated from ENSG00000171202 to ENSG00000171202 (gene set migration)
Prepair 1000+ v3.0 ALG3 Gene migrated from ENSG00000214160 to ENSG00000214160 (gene set migration)
Prepair 1000+ v3.0 TMEM67 Gene migrated from ENSG00000164953 to ENSG00000164953 (gene set migration)
Prepair 1000+ v3.0 ALMS1 Gene migrated from ENSG00000116127 to ENSG00000116127 (gene set migration)
Prepair 1000+ v3.0 ALOX12B Gene migrated from ENSG00000179477 to ENSG00000179477 (gene set migration)
Prepair 1000+ v3.0 SGCA Gene migrated from ENSG00000108823 to ENSG00000108823 (gene set migration)
Prepair 1000+ v3.0 JAK3 Gene migrated from ENSG00000105639 to ENSG00000105639 (gene set migration)
Prepair 1000+ v3.0 ALOXE3 Gene migrated from ENSG00000179148 to ENSG00000179148 (gene set migration)
Prepair 1000+ v3.0 DYSF Gene migrated from ENSG00000135636 to ENSG00000135636 (gene set migration)
Prepair 1000+ v3.0 ANTXR1 Gene migrated from ENSG00000169604 to ENSG00000169604 (gene set migration)
Prepair 1000+ v3.0 ANTXR2 Gene migrated from ENSG00000163297 to ENSG00000163297 (gene set migration)
Prepair 1000+ v3.0 DONSON Gene migrated from ENSG00000159147 to ENSG00000159147 (gene set migration)
Prepair 1000+ v3.0 TTC19 Gene migrated from ENSG00000011295 to ENSG00000011295 (gene set migration)
Prepair 1000+ v3.0 USB1 Gene migrated from ENSG00000103005 to ENSG00000103005 (gene set migration)
Prepair 1000+ v3.0 ATP13A2 Gene migrated from ENSG00000159363 to ENSG00000159363 (gene set migration)
Prepair 1000+ v3.0 AP4B1 Gene migrated from ENSG00000134262 to ENSG00000134262 (gene set migration)
Prepair 1000+ v3.0 DBT Gene migrated from ENSG00000137992 to ENSG00000137992 (gene set migration)
Prepair 1000+ v3.0 AP4S1 Gene migrated from ENSG00000100478 to ENSG00000100478 (gene set migration)
Prepair 1000+ v3.0 ARHGEF9 Gene migrated from ENSG00000131089 to ENSG00000131089 (gene set migration)
Prepair 1000+ v3.0 ASAH1 Gene migrated from ENSG00000104763 to ENSG00000104763 (gene set migration)
Prepair 1000+ v3.0 HESX1 Gene migrated from ENSG00000163666 to ENSG00000163666 (gene set migration)
Prepair 1000+ v3.0 LGI4 Gene migrated from ENSG00000153902 to ENSG00000153902 (gene set migration)
Prepair 1000+ v3.0 SURF1 Gene migrated from ENSG00000148290 to ENSG00000148290 (gene set migration)
Prepair 1000+ v3.0 AGA Gene migrated from ENSG00000038002 to ENSG00000038002 (gene set migration)
Prepair 1000+ v3.0 VMA21 Gene migrated from ENSG00000160131 to ENSG00000160131 (gene set migration)
Prepair 1000+ v3.0 ATP6V1B1 Gene migrated from ENSG00000116039 to ENSG00000116039 (gene set migration)
Prepair 1000+ v3.0 AGL Gene migrated from ENSG00000162688 to ENSG00000162688 (gene set migration)
Prepair 1000+ v3.0 ATRX Gene migrated from ENSG00000085224 to ENSG00000085224 (gene set migration)
Prepair 1000+ v3.0 SNAP29 Gene migrated from ENSG00000099940 to ENSG00000099940 (gene set migration)
Prepair 1000+ v3.0 ADSL Gene migrated from ENSG00000239900 to ENSG00000239900 (gene set migration)
Prepair 1000+ v3.0 BBS12 Gene migrated from ENSG00000181004 to ENSG00000181004 (gene set migration)
Prepair 1000+ v3.0 WARS2 Gene migrated from ENSG00000116874 to ENSG00000116874 (gene set migration)
Prepair 1000+ v3.0 ACTA1 Gene migrated from ENSG00000143632 to ENSG00000143632 (gene set migration)
Prepair 1000+ v3.0 PTS Gene migrated from ENSG00000150787 to ENSG00000150787 (gene set migration)
Prepair 1000+ v3.0 WFS1 Gene migrated from ENSG00000109501 to ENSG00000109501 (gene set migration)
Prepair 1000+ v3.0 C1QA Gene migrated from ENSG00000173372 to ENSG00000173372 (gene set migration)
Prepair 1000+ v3.0 FLNA Gene migrated from ENSG00000196924 to ENSG00000196924 (gene set migration)
Prepair 1000+ v3.0 ACAD9 Gene migrated from ENSG00000177646 to ENSG00000177646 (gene set migration)
Prepair 1000+ v3.0 CD3D Gene migrated from ENSG00000167286 to ENSG00000167286 (gene set migration)
Prepair 1000+ v3.0 CLN5 Gene migrated from ENSG00000102805 to ENSG00000102805 (gene set migration)
Prepair 1000+ v3.0 CRB1 Gene migrated from ENSG00000134376 to ENSG00000134376 (gene set migration)
Prepair 1000+ v3.0 SMN1 Gene migrated from ENSG00000172062 to ENSG00000172062 (gene set migration)
Prepair 1000+ v3.0 ABHD5 Gene migrated from ENSG00000011198 to ENSG00000011198 (gene set migration)
Prepair 1000+ v3.0 DOK7 Gene migrated from ENSG00000175920 to ENSG00000175920 (gene set migration)
Prepair 1000+ v3.0 EPG5 Gene migrated from ENSG00000152223 to ENSG00000152223 (gene set migration)
Prepair 1000+ v3.0 SOST Gene migrated from ENSG00000167941 to ENSG00000167941 (gene set migration)
Prepair 1000+ v3.0 TRNT1 Gene migrated from ENSG00000072756 to ENSG00000072756 (gene set migration)
Prepair 1000+ v3.0 GFM1 Gene migrated from ENSG00000168827 to ENSG00000168827 (gene set migration)
Prepair 1000+ v3.0 ASNS Gene migrated from ENSG00000070669 to ENSG00000070669 (gene set migration)
Prepair 1000+ v3.0 ITGA3 Gene migrated from ENSG00000005884 to ENSG00000005884 (gene set migration)
Prepair 1000+ v3.0 IMPG2 Gene migrated from ENSG00000081148 to ENSG00000081148 (gene set migration)
Prepair 1000+ v3.0 GTPBP2 Gene migrated from ENSG00000172432 to ENSG00000172432 (gene set migration)
Prepair 1000+ v3.0 CSMD1 Gene migrated from ENSG00000183117 to ENSG00000183117 (gene set migration)
Prepair 1000+ v3.0 COG5 Gene migrated from ENSG00000164597 to ENSG00000164597 (gene set migration)
Prepair 1000+ v3.0 BCAP31 Gene migrated from ENSG00000185825 to ENSG00000185825 (gene set migration)
Prepair 1000+ v3.0 TTN Gene migrated from ENSG00000155657 to ENSG00000155657 (gene set migration)
Prepair 1000+ v3.0 POLA1 Gene migrated from ENSG00000101868 to ENSG00000101868 (gene set migration)
Prepair 1000+ v3.0 B9D1 Gene migrated from ENSG00000108641 to ENSG00000108641 (gene set migration)
Prepair 1000+ v3.0 NTNG2 Gene migrated from ENSG00000196358 to ENSG00000196358 (gene set migration)
Prepair 1000+ v3.0 DYNC1I2 Gene migrated from ENSG00000077380 to ENSG00000077380 (gene set migration)
Prepair 1000+ v3.0 CLCNKB Gene migrated from ENSG00000184908 to ENSG00000184908 (gene set migration)
Prepair 1000+ v3.0 SLC39A4 Gene migrated from ENSG00000147804 to ENSG00000147804 (gene set migration)
Prepair 1000+ v3.0 SLC12A5 Gene migrated from ENSG00000124140 to ENSG00000124140 (gene set migration)
Prepair 1000+ v3.0 PPIB Gene migrated from ENSG00000166794 to ENSG00000166794 (gene set migration)
Prepair 1000+ v3.0 POMT2 Gene migrated from ENSG00000009830 to ENSG00000009830 (gene set migration)
Prepair 1000+ v3.0 ROR2 Gene migrated from ENSG00000169071 to ENSG00000169071 (gene set migration)
Prepair 1000+ v3.0 RNASET2 Gene migrated from ENSG00000026297 to ENSG00000026297 (gene set migration)
Prepair 1000+ v3.0 PNP Gene migrated from ENSG00000198805 to ENSG00000198805 (gene set migration)
Prepair 1000+ v3.0 PCSK1 Gene migrated from ENSG00000175426 to ENSG00000175426 (gene set migration)
Prepair 1000+ v3.0 METTL23 Gene migrated from ENSG00000181038 to ENSG00000181038 (gene set migration)
Prepair 1000+ v3.0 MMP2 Gene migrated from ENSG00000087245 to ENSG00000087245 (gene set migration)
Prepair 1000+ v3.0 MEGF10 Gene migrated from ENSG00000145794 to ENSG00000145794 (gene set migration)
Prepair 1000+ v3.0 MED12 Gene migrated from ENSG00000184634 to ENSG00000184634 (gene set migration)
Prepair 1000+ v3.0 LRMDA Gene migrated from ENSG00000148655 to ENSG00000148655 (gene set migration)
Prepair 1000+ v3.0 LRAT Gene migrated from ENSG00000121207 to ENSG00000121207 (gene set migration)
Prepair 1000+ v3.0 LONP1 Gene migrated from ENSG00000196365 to ENSG00000196365 (gene set migration)
Prepair 1000+ v3.0 TPP1 Gene migrated from ENSG00000166340 to ENSG00000166340 (gene set migration)
Prepair 1000+ v3.0 LARS2 Gene migrated from ENSG00000011376 to ENSG00000011376 (gene set migration)
Prepair 1000+ v3.0 USH1G Gene migrated from ENSG00000182040 to ENSG00000182040 (gene set migration)
Prepair 1000+ v3.0 XRCC4 Gene migrated from ENSG00000152422 to ENSG00000152422 (gene set migration)
Prepair 1000+ v3.0 XYLT2 Gene migrated from ENSG00000015532 to ENSG00000015532 (gene set migration)
Prepair 1000+ v3.0 GM2A Gene migrated from ENSG00000196743 to ENSG00000196743 (gene set migration)
Prepair 1000+ v3.0 FHL1 Gene migrated from ENSG00000022267 to ENSG00000022267 (gene set migration)
Prepair 1000+ v3.0 FANCL Gene migrated from ENSG00000115392 to ENSG00000115392 (gene set migration)
Prepair 1000+ v3.0 FGD4 Gene migrated from ENSG00000139132 to ENSG00000139132 (gene set migration)
Prepair 1000+ v3.0 ERCC4 Gene migrated from ENSG00000175595 to ENSG00000175595 (gene set migration)
Prepair 1000+ v3.0 COL11A2 Gene migrated from ENSG00000204248 to ENSG00000204248 (gene set migration)
Prepair 1000+ v3.0 PROS1 Gene migrated from ENSG00000184500 to ENSG00000184500 (gene set migration)
Prepair 1000+ v3.0 GLDN Gene migrated from ENSG00000186417 to ENSG00000186417 (gene set migration)
Prepair 1000+ v3.0 FYCO1 Gene migrated from ENSG00000163820 to ENSG00000163820 (gene set migration)
Prepair 1000+ v3.0 FRAS1 Gene migrated from ENSG00000138759 to ENSG00000138759 (gene set migration)
Prepair 1000+ v3.0 SLC37A4 Gene migrated from ENSG00000137700 to ENSG00000137700 (gene set migration)
Prepair 1000+ v3.0 SP110 Gene migrated from ENSG00000135899 to ENSG00000135899 (gene set migration)
Prepair 1000+ v3.0 PLAA Gene migrated from ENSG00000137055 to ENSG00000137055 (gene set migration)
Prepair 1000+ v3.0 PLCE1 Gene migrated from ENSG00000138193 to ENSG00000138193 (gene set migration)
Prepair 1000+ v3.0 POLR3B Gene migrated from ENSG00000013503 to ENSG00000013503 (gene set migration)
Prepair 1000+ v3.0 POLE Gene migrated from ENSG00000177084 to ENSG00000177084 (gene set migration)
Prepair 1000+ v3.0 PRDM12 Gene migrated from ENSG00000130711 to ENSG00000130711 (gene set migration)
Prepair 1000+ v3.0 PRX Gene migrated from ENSG00000105227 to ENSG00000105227 (gene set migration)
Prepair 1000+ v3.0 QDPR Gene migrated from ENSG00000151552 to ENSG00000151552 (gene set migration)
Prepair 1000+ v3.0 RAB27A Gene migrated from ENSG00000069974 to ENSG00000069974 (gene set migration)
Prepair 1000+ v3.0 RPGRIP1L Gene migrated from ENSG00000103494 to ENSG00000103494 (gene set migration)
Prepair 1000+ v3.0 WDR35 Gene migrated from ENSG00000118965 to ENSG00000118965 (gene set migration)
Prepair 1000+ v3.0 AGTR1 Gene migrated from ENSG00000144891 to ENSG00000144891 (gene set migration)
Prepair 1000+ v3.0 SCO1 Gene migrated from ENSG00000133028 to ENSG00000133028 (gene set migration)
Prepair 1000+ v3.0 MTPAP Gene migrated from ENSG00000107951 to ENSG00000107951 (gene set migration)
Prepair 1000+ v3.0 PDHX Gene migrated from ENSG00000110435 to ENSG00000110435 (gene set migration)
Prepair 1000+ v3.0 ZIC3 Gene migrated from ENSG00000156925 to ENSG00000156925 (gene set migration)
Prepair 1000+ v3.0 ZBTB24 Gene migrated from ENSG00000112365 to ENSG00000112365 (gene set migration)
Prepair 1000+ v3.0 WDR73 Gene migrated from ENSG00000177082 to ENSG00000177082 (gene set migration)
Prepair 1000+ v3.0 ZNHIT3 Gene migrated from ENSG00000273611 to ENSG00000273611 (gene set migration)
Prepair 1000+ v3.0 VPS13B Gene migrated from ENSG00000132549 to ENSG00000132549 (gene set migration)
Prepair 1000+ v3.0 VPS45 Gene migrated from ENSG00000136631 to ENSG00000136631 (gene set migration)
Prepair 1000+ v3.0 TJP2 Gene migrated from ENSG00000119139 to ENSG00000119139 (gene set migration)
Prepair 1000+ v3.0 SLC4A1 Gene migrated from ENSG00000004939 to ENSG00000004939 (gene set migration)
Prepair 1000+ v3.0 SEPSECS Gene migrated from ENSG00000109618 to ENSG00000109618 (gene set migration)
Prepair 1000+ v3.0 SELENON Gene migrated from ENSG00000162430 to ENSG00000162430 (gene set migration)
Prepair 1000+ v3.0 SCNN1A Gene migrated from ENSG00000111319 to ENSG00000111319 (gene set migration)
Prepair 1000+ v3.0 RSPH4A Gene migrated from ENSG00000111834 to ENSG00000111834 (gene set migration)
Prepair 1000+ v3.0 PSPH Gene migrated from ENSG00000146733 to ENSG00000146733 (gene set migration)
Prepair 1000+ v3.0 PPT1 Gene migrated from ENSG00000131238 to ENSG00000131238 (gene set migration)
Prepair 1000+ v3.0 POMK Gene migrated from ENSG00000185900 to ENSG00000185900 (gene set migration)
Prepair 1000+ v3.0 ST3GAL5 Gene migrated from ENSG00000115525 to ENSG00000115525 (gene set migration)
Prepair 1000+ v3.0 PFKM Gene migrated from ENSG00000152556 to ENSG00000152556 (gene set migration)
Prepair 1000+ v3.0 NPHS2 Gene migrated from ENSG00000116218 to ENSG00000116218 (gene set migration)
Prepair 1000+ v3.0 NHS Gene migrated from ENSG00000188158 to ENSG00000188158 (gene set migration)
Prepair 1000+ v3.0 NEK8 Gene migrated from ENSG00000160602 to ENSG00000160602 (gene set migration)
Prepair 1000+ v3.0 NDUFS1 Gene migrated from ENSG00000023228 to ENSG00000023228 (gene set migration)
Prepair 1000+ v3.0 NAXE Gene migrated from ENSG00000163382 to ENSG00000163382 (gene set migration)
Prepair 1000+ v3.0 ECHS1 Gene migrated from ENSG00000127884 to ENSG00000127884 (gene set migration)
Prepair 1000+ v3.0 ABCB7 Gene migrated from ENSG00000131269 to ENSG00000131269 (gene set migration)
Prepair 1000+ v3.0 TSEN2 Gene migrated from ENSG00000154743 to ENSG00000154743 (gene set migration)
Prepair 1000+ v3.0 CISD2 Gene migrated from ENSG00000145354 to ENSG00000145354 (gene set migration)
Prepair 1000+ v3.0 AARS2 Gene migrated from ENSG00000124608 to ENSG00000124608 (gene set migration)
Prepair 1000+ v3.0 TTC21B Gene migrated from ENSG00000123607 to ENSG00000123607 (gene set migration)
Prepair 1000+ v3.0 HPSE2 Gene migrated from ENSG00000172987 to ENSG00000172987 (gene set migration)
Prepair 1000+ v3.0 TTC8 Gene migrated from ENSG00000165533 to ENSG00000165533 (gene set migration)
Prepair 1000+ v3.0 TUBGCP6 Gene migrated from ENSG00000128159 to ENSG00000128159 (gene set migration)
Prepair 1000+ v3.0 POMP Gene migrated from ENSG00000132963 to ENSG00000132963 (gene set migration)
Prepair 1000+ v3.0 TRIP11 Gene migrated from ENSG00000100815 to ENSG00000100815 (gene set migration)
Prepair 1000+ v3.0 AAAS Gene migrated from ENSG00000094914 to ENSG00000094914 (gene set migration)
Prepair 1000+ v3.0 TYK2 Gene migrated from ENSG00000105397 to ENSG00000105397 (gene set migration)
Prepair 1000+ v3.0 IL1RN Gene migrated from ENSG00000136689 to ENSG00000136689 (gene set migration)
Prepair 1000+ v3.0 UBE2A Gene migrated from ENSG00000077721 to ENSG00000077721 (gene set migration)
Prepair 1000+ v3.0 CLCN2 Gene migrated from ENSG00000114859 to ENSG00000114859 (gene set migration)
Prepair 1000+ v3.0 GBE1 Gene migrated from ENSG00000114480 to ENSG00000114480 (gene set migration)
Prepair 1000+ v3.0 COL4A3 Gene migrated from ENSG00000169031 to ENSG00000169031 (gene set migration)
Prepair 1000+ v3.0 COLQ Gene migrated from ENSG00000206561 to ENSG00000206561 (gene set migration)
Prepair 1000+ v3.0 GCDH Gene migrated from ENSG00000105607 to ENSG00000105607 (gene set migration)
Prepair 1000+ v3.0 CRB2 Gene migrated from ENSG00000148204 to ENSG00000148204 (gene set migration)
Prepair 1000+ v3.0 DGAT1 Gene migrated from ENSG00000185000 to ENSG00000185000 (gene set migration)
Prepair 1000+ v3.0 WDR62 Gene migrated from ENSG00000075702 to ENSG00000075702 (gene set migration)
Prepair 1000+ v3.0 RNASEH2B Gene migrated from ENSG00000136104 to ENSG00000136104 (gene set migration)
Prepair 1000+ v3.0 B3GLCT Gene migrated from ENSG00000187676 to ENSG00000187676 (gene set migration)
Prepair 1000+ v3.0 RNU4ATAC Gene migrated from ENSG00000264229 to ENSG00000264229 (gene set migration)
Prepair 1000+ v3.0 ARFGEF2 Gene migrated from ENSG00000124198 to ENSG00000124198 (gene set migration)
Prepair 1000+ v3.0 ROBO3 Gene migrated from ENSG00000154134 to ENSG00000154134 (gene set migration)
Prepair 1000+ v3.0 NPHS1 Gene migrated from ENSG00000161270 to ENSG00000161270 (gene set migration)
Prepair 1000+ v3.0 OPA3 Gene migrated from ENSG00000125741 to ENSG00000125741 (gene set migration)
Prepair 1000+ v3.0 RORC Gene migrated from ENSG00000143365 to ENSG00000143365 (gene set migration)
Prepair 1000+ v3.0 PCCB Gene migrated from ENSG00000114054 to ENSG00000114054 (gene set migration)
Prepair 1000+ v3.0 PCYT1A Gene migrated from ENSG00000161217 to ENSG00000161217 (gene set migration)
Prepair 1000+ v3.0 PLP1 Gene migrated from ENSG00000123560 to ENSG00000123560 (gene set migration)
Prepair 1000+ v3.0 ASCC1 Gene migrated from ENSG00000138303 to ENSG00000138303 (gene set migration)
Prepair 1000+ v3.0 MFRP Gene migrated from ENSG00000235718 to ENSG00000235718 (gene set migration)
Prepair 1000+ v3.0 Panel migrated to gene set Ensemblv115. Source version: v2.17
Prepair 1000+ v2.17 DHDDS Zornitza Stark Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59, MIM#613861; Congenital disorder of glycosylation, type 1bb, MIM# 613861 to Retinitis pigmentosa 59, MIM#613861; Congenital disorder of glycosylation, type 1bb, MIM# 621567
Prepair 1000+ v2.16 DHDDS Zornitza Stark reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type 1bb, MIM# 621567; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v2.16 DONSON Zornitza Stark Phenotypes for gene: DONSON were changed from Microcephaly-micromelia syndrome (MIM#251230); Microcephaly, short stature, and limb abnormalities (MIM#617604) to Microcephaly-micromelia syndrome (MIM#251230); Microcephaly, short stature, and limb abnormalities (MIM#617604); Meier-Gorlin syndrome 10, MIM# 621528
Prepair 1000+ v2.15 ORAI1 Zornitza Stark Phenotypes for gene: ORAI1 were changed from Immunodeficiency 9, MIM#612782; Myopathy, tubular aggregate, 2, MIM#615883 to Immunodeficiency 9, MIM#612782
Prepair 1000+ v2.14 ORAI1 Zornitza Stark reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 9, MIM#612782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v2.14 B9D1 Zornitza Stark Phenotypes for gene: B9D1 were changed from Joubert syndrome 27, MIM# 617120; Meckel syndrome 9, MIM# 614209 to Ciliopathy, MONDO:0005308, B9D1-related
Prepair 1000+ v2.13 B9D1 Zornitza Stark reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliopathy, MONDO:0005308, B9D1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v2.13 PIH1D3 Zornitza Stark Tag new gene name tag was added to gene: PIH1D3.
Prepair 1000+ v2.13 IGHM Lilian Downie Classified gene: IGHM as Amber List (moderate evidence)
Prepair 1000+ v2.13 IGHM Lilian Downie Added comment: Comment on list classification: Technical challenges
Prepair 1000+ v2.13 IGHM Lilian Downie Gene: ighm has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v2.12 PUS7 Zornitza Stark Tag for review was removed from gene: PUS7.
Prepair 1000+ v2.12 PEX19 Zornitza Stark Tag for review was removed from gene: PEX19.
Prepair 1000+ v2.12 ZNF469 Zornitza Stark Classified gene: ZNF469 as Green List (high evidence)
Prepair 1000+ v2.12 ZNF469 Zornitza Stark Gene: znf469 has been classified as Green List (High Evidence).
Prepair 1000+ v2.11 ZNF469 Zornitza Stark Tag for review was removed from gene: ZNF469.
Prepair 1000+ v2.11 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Green List (high evidence)
Prepair 1000+ v2.11 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Prepair 1000+ v2.10 TRAPPC12 Zornitza Stark Tag for review was removed from gene: TRAPPC12.
Prepair 1000+ v2.10 PUS7 Zornitza Stark Classified gene: PUS7 as Green List (high evidence)
Prepair 1000+ v2.10 PUS7 Zornitza Stark Gene: pus7 has been classified as Green List (High Evidence).
Prepair 1000+ v2.9 PTPN23 Zornitza Stark Tag for review was removed from gene: PTPN23.
Prepair 1000+ v2.9 PTPN23 Zornitza Stark Classified gene: PTPN23 as Green List (high evidence)
Prepair 1000+ v2.9 PTPN23 Zornitza Stark Gene: ptpn23 has been classified as Green List (High Evidence).
Prepair 1000+ v2.8 GPR143 Zornitza Stark Tag for review was removed from gene: GPR143.
Prepair 1000+ v2.8 GPR143 Seb Lunke Classified gene: GPR143 as Red List (low evidence)
Prepair 1000+ v2.8 GPR143 Seb Lunke Added comment: Comment on list classification: Marked red in line with LD comment
Prepair 1000+ v2.8 GPR143 Seb Lunke Gene: gpr143 has been classified as Red List (Low Evidence).
Prepair 1000+ v2.7 GPR143 Zornitza Stark Tag for review tag was added to gene: GPR143.
Prepair 1000+ v2.7 ZNF469 Zornitza Stark Tag for review tag was added to gene: ZNF469.
Prepair 1000+ v2.7 TRAPPC12 Zornitza Stark Tag for review tag was added to gene: TRAPPC12.
Prepair 1000+ v2.7 PUS7 Zornitza Stark Tag for review tag was added to gene: PUS7.
Prepair 1000+ v2.7 PTPN23 Zornitza Stark Tag for review tag was added to gene: PTPN23.
Prepair 1000+ v2.7 RARB Zornitza Stark Marked gene: RARB as ready
Prepair 1000+ v2.7 RARB Zornitza Stark Gene: rarb has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v2.7 RARB Zornitza Stark Phenotypes for gene: RARB were changed from Microphthalmia, syndromic 12, 615524 (3), Autosomal recessive to Microphthalmia, syndromic 12 MIM#615524
Prepair 1000+ v2.6 RARB Zornitza Stark Publications for gene: RARB were set to
Prepair 1000+ v2.5 TMEM94 Zornitza Stark Marked gene: TMEM94 as ready
Prepair 1000+ v2.5 TMEM94 Zornitza Stark Gene: tmem94 has been classified as Green List (High Evidence).
Prepair 1000+ v2.5 TMEM94 Zornitza Stark Publications for gene: TMEM94 were set to 30526868
Prepair 1000+ v2.4 FAM20C Zornitza Stark Marked gene: FAM20C as ready
Prepair 1000+ v2.4 FAM20C Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence).
Prepair 1000+ v2.4 FAM20C Zornitza Stark Phenotypes for gene: FAM20C were changed from Raine syndrome, 259775 (3) to Raine syndrome MIM#259775
Prepair 1000+ v2.3 FAM20C Zornitza Stark Publications for gene: FAM20C were set to
Prepair 1000+ v2.2 EIF2B3 Zornitza Stark Marked gene: EIF2B3 as ready
Prepair 1000+ v2.2 EIF2B3 Zornitza Stark Gene: eif2b3 has been classified as Green List (High Evidence).
Prepair 1000+ v2.2 EIF2B3 Zornitza Stark Phenotypes for gene: EIF2B3 were changed from Leukoencephalopathy with vanishing white matter, 603896 (3) to Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure MIM#620313
Prepair 1000+ v2.1 EIF2B3 Zornitza Stark Publications for gene: EIF2B3 were set to
Prepair 1000+ v2.0 CLN8 Zornitza Stark Marked gene: CLN8 as ready
Prepair 1000+ v2.0 CLN8 Zornitza Stark Gene: cln8 has been classified as Green List (High Evidence).
Prepair 1000+ v2.0 CLN8 Zornitza Stark reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v2.0 Zornitza Stark promoted panel to version 2.0
Prepair 1000+ v1.2159 SCN1B Zornitza Stark Marked gene: SCN1B as ready
Prepair 1000+ v1.2159 SCN1B Zornitza Stark Gene: scn1b has been classified as Green List (High Evidence).
Prepair 1000+ v1.2159 SCN1B Zornitza Stark Classified gene: SCN1B as Green List (high evidence)
Prepair 1000+ v1.2159 SCN1B Zornitza Stark Gene: scn1b has been classified as Green List (High Evidence).
Prepair 1000+ v1.2158 POLR1D Zornitza Stark Marked gene: POLR1D as ready
Prepair 1000+ v1.2158 POLR1D Zornitza Stark Gene: polr1d has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2158 POLR1D Zornitza Stark Mode of inheritance for gene: POLR1D was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2157 POLR1D Zornitza Stark Classified gene: POLR1D as Red List (low evidence)
Prepair 1000+ v1.2157 POLR1D Zornitza Stark Gene: polr1d has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2156 POLR1D Zornitza Stark reviewed gene: POLR1D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Treacher Collins syndrome 2 MIM#613717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2156 POLE Zornitza Stark Marked gene: POLE as ready
Prepair 1000+ v1.2156 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Prepair 1000+ v1.2156 POLE Zornitza Stark Classified gene: POLE as Green List (high evidence)
Prepair 1000+ v1.2156 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Prepair 1000+ v1.2155 OXCT1 Zornitza Stark Classified gene: OXCT1 as Green List (high evidence)
Prepair 1000+ v1.2155 OXCT1 Zornitza Stark Gene: oxct1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2154 HPDL Zornitza Stark Marked gene: HPDL as ready
Prepair 1000+ v1.2154 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Prepair 1000+ v1.2154 HPDL Zornitza Stark Phenotypes for gene: HPDL were changed from to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MIM#619026; Spastic paraplegia 83, autosomal recessive MIM#619027; Leigh syndrome MONDO:0009723
Prepair 1000+ v1.2153 HPDL Zornitza Stark Classified gene: HPDL as Green List (high evidence)
Prepair 1000+ v1.2153 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Prepair 1000+ v1.2152 DLAT Zornitza Stark Classified gene: DLAT as Green List (high evidence)
Prepair 1000+ v1.2152 DLAT Zornitza Stark Gene: dlat has been classified as Green List (High Evidence).
Prepair 1000+ v1.2151 DBR1 Zornitza Stark Phenotypes for gene: DBR1 were changed from to Xerosis and growth failure with immune and pulmonary dysfunction syndrome MIM#620510
Prepair 1000+ v1.2150 DBR1 Zornitza Stark Publications for gene: DBR1 were set to
Prepair 1000+ v1.2149 DBR1 Zornitza Stark Classified gene: DBR1 as Green List (high evidence)
Prepair 1000+ v1.2149 DBR1 Zornitza Stark Gene: dbr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2148 BRIP1 Zornitza Stark Phenotypes for gene: BRIP1 were changed from Fanconi Anaemia to Fanconi Anaemia, complementation group J, MIM# 609054
Prepair 1000+ v1.2147 BRIP1 Zornitza Stark Classified gene: BRIP1 as Red List (low evidence)
Prepair 1000+ v1.2147 BRIP1 Zornitza Stark Gene: brip1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2146 BRIP1 Zornitza Stark edited their review of gene: BRIP1: Added comment: Consider for inclusion in V3 together with all FA genes.; Changed rating: RED; Changed phenotypes: Fanconi Anaemia, complementation group J, MIM# 609054; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2146 MBTPS1 Zornitza Stark Tag for review was removed from gene: MBTPS1.
Prepair 1000+ v1.2146 ITGA3 Seb Lunke Tag for review was removed from gene: ITGA3.
Prepair 1000+ v1.2146 IGHM Seb Lunke Tag for review was removed from gene: IGHM.
Prepair 1000+ v1.2146 ERBB3 Seb Lunke Tag for review was removed from gene: ERBB3.
Prepair 1000+ v1.2146 TSPYL1 Seb Lunke Tag review was removed from gene: TSPYL1.
Prepair 1000+ v1.2146 TTN Seb Lunke Tag for review was removed from gene: TTN.
Prepair 1000+ v1.2146 CERKL Seb Lunke Tag for review was removed from gene: CERKL.
Prepair 1000+ v1.2146 CLN3 Seb Lunke Tag for review was removed from gene: CLN3.
Prepair 1000+ v1.2146 LRSAM1 Seb Lunke Tag for review was removed from gene: LRSAM1.
Prepair 1000+ v1.2146 NCF1 Seb Lunke Tag for review was removed from gene: NCF1.
Prepair 1000+ v1.2146 RARB Seb Lunke Tag for review was removed from gene: RARB.
Prepair 1000+ v1.2146 SLC9A3 Seb Lunke Tag for review was removed from gene: SLC9A3.
Prepair 1000+ v1.2146 FYCO1 Zornitza Stark Tag review was removed from gene: FYCO1.
Prepair 1000+ v1.2146 PRICKLE1 Seb Lunke Tag for review was removed from gene: PRICKLE1.
Prepair 1000+ v1.2146 TSPYL1 Seb Lunke Classified gene: TSPYL1 as Green List (high evidence)
Prepair 1000+ v1.2146 TSPYL1 Seb Lunke Added comment: Comment on list classification: Assessed, meets conditions as additional non-founder variants identified
Prepair 1000+ v1.2146 TSPYL1 Seb Lunke Gene: tspyl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2145 B9D1 Zornitza Stark Tag for review was removed from gene: B9D1.
Prepair 1000+ v1.2145 ADPRHL2 Zornitza Stark Tag for review was removed from gene: ADPRHL2.
Prepair 1000+ v1.2145 ACY1 Zornitza Stark Tag for review was removed from gene: ACY1.
Prepair 1000+ v1.2145 PEX19 Lilian Downie Classified gene: PEX19 as Green List (high evidence)
Prepair 1000+ v1.2145 PEX19 Lilian Downie Gene: pex19 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2145 SCO1 Seb Lunke Classified gene: SCO1 as Green List (high evidence)
Prepair 1000+ v1.2145 SCO1 Seb Lunke Gene: sco1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2144 PIEZO1 Zornitza Stark Marked gene: PIEZO1 as ready
Prepair 1000+ v1.2144 PIEZO1 Zornitza Stark Gene: piezo1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2144 SCO1 Seb Lunke Tag for review was removed from gene: SCO1.
Prepair 1000+ v1.2144 PIEZO1 Zornitza Stark Classified gene: PIEZO1 as Green List (high evidence)
Prepair 1000+ v1.2144 PIEZO1 Zornitza Stark Gene: piezo1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2143 PIEZO1 Zornitza Stark Tag for review was removed from gene: PIEZO1.
Prepair 1000+ v1.2143 PDHX Zornitza Stark Classified gene: PDHX as Green List (high evidence)
Prepair 1000+ v1.2143 PDHX Zornitza Stark Gene: pdhx has been classified as Green List (High Evidence).
Prepair 1000+ v1.2143 OTULIN Seb Lunke Classified gene: OTULIN as Green List (high evidence)
Prepair 1000+ v1.2143 OTULIN Seb Lunke Gene: otulin has been classified as Green List (High Evidence).
Prepair 1000+ v1.2142 PDHX Zornitza Stark Tag for review was removed from gene: PDHX.
Prepair 1000+ v1.2142 OTULIN Seb Lunke Tag for review was removed from gene: OTULIN.
Prepair 1000+ v1.2142 MTPAP Zornitza Stark Classified gene: MTPAP as Green List (high evidence)
Prepair 1000+ v1.2142 MTPAP Zornitza Stark Gene: mtpap has been classified as Green List (High Evidence).
Prepair 1000+ v1.2142 CHMP1A Lilian Downie Classified gene: CHMP1A as Green List (high evidence)
Prepair 1000+ v1.2142 CHMP1A Lilian Downie Gene: chmp1a has been classified as Green List (High Evidence).
Prepair 1000+ v1.2141 MTPAP Zornitza Stark Tag for review was removed from gene: MTPAP.
Prepair 1000+ v1.2141 CHMP1A Lilian Downie Tag for review was removed from gene: CHMP1A.
Prepair 1000+ v1.2141 APC2 Seb Lunke Classified gene: APC2 as Green List (high evidence)
Prepair 1000+ v1.2141 APC2 Seb Lunke Gene: apc2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2140 APC2 Seb Lunke Tag for review was removed from gene: APC2.
Prepair 1000+ v1.2140 AMN Zornitza Stark Marked gene: AMN as ready
Prepair 1000+ v1.2140 AMN Zornitza Stark Added comment: Comment when marking as ready: Treatable, relatively mild disorder, not suitable for inclusion on a reproductive carrier screen.
Prepair 1000+ v1.2140 AMN Zornitza Stark Gene: amn has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2140 AMN Zornitza Stark Classified gene: AMN as Red List (low evidence)
Prepair 1000+ v1.2140 AMN Zornitza Stark Gene: amn has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2139 AMN Zornitza Stark Tag for review was removed from gene: AMN.
Prepair 1000+ v1.2139 AGTR1 Zornitza Stark Classified gene: AGTR1 as Green List (high evidence)
Prepair 1000+ v1.2139 AGTR1 Zornitza Stark Gene: agtr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2138 YIF1B Seb Lunke Tag for review was removed from gene: YIF1B.
Prepair 1000+ v1.2138 YIF1B Seb Lunke Classified gene: YIF1B as Green List (high evidence)
Prepair 1000+ v1.2138 YIF1B Seb Lunke Gene: yif1b has been classified as Green List (High Evidence).
Prepair 1000+ v1.2137 AGTR1 Zornitza Stark Tag for review was removed from gene: AGTR1.
Prepair 1000+ v1.2137 UQCRC2 Zornitza Stark Marked gene: UQCRC2 as ready
Prepair 1000+ v1.2137 UQCRC2 Zornitza Stark Added comment: Comment when marking as ready: Borderline gene-disease association, keep Amber in the screening context.
Prepair 1000+ v1.2137 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2137 UQCRC2 Zornitza Stark Publications for gene: UQCRC2 were set to
Prepair 1000+ v1.2136 UQCRC2 Zornitza Stark Classified gene: UQCRC2 as Amber List (moderate evidence)
Prepair 1000+ v1.2136 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2135 UQCRC2 Zornitza Stark Tag for review was removed from gene: UQCRC2.
Prepair 1000+ v1.2135 TRAPPC6B Seb Lunke Classified gene: TRAPPC6B as Green List (high evidence)
Prepair 1000+ v1.2135 TRAPPC6B Seb Lunke Gene: trappc6b has been classified as Green List (High Evidence).
Prepair 1000+ v1.2134 TP53RK Lilian Downie Classified gene: TP53RK as Green List (high evidence)
Prepair 1000+ v1.2134 TP53RK Lilian Downie Gene: tp53rk has been classified as Green List (High Evidence).
Prepair 1000+ v1.2133 TRAPPC6B Seb Lunke Tag for review was removed from gene: TRAPPC6B.
Prepair 1000+ v1.2133 TP53RK Lilian Downie Tag for review was removed from gene: TP53RK.
Prepair 1000+ v1.2133 TPRKB Zornitza Stark Marked gene: TPRKB as ready
Prepair 1000+ v1.2133 TPRKB Zornitza Stark Gene: tprkb has been classified as Green List (High Evidence).
Prepair 1000+ v1.2133 TPRKB Zornitza Stark Publications for gene: TPRKB were set to 30053862; 28805828
Prepair 1000+ v1.2132 TPRKB Zornitza Stark Classified gene: TPRKB as Green List (high evidence)
Prepair 1000+ v1.2132 TPRKB Zornitza Stark Gene: tprkb has been classified as Green List (High Evidence).
Prepair 1000+ v1.2131 TPRKB Zornitza Stark Tag for review was removed from gene: TPRKB.
Prepair 1000+ v1.2131 TBC1D20 Lilian Downie Tag for review was removed from gene: TBC1D20.
Prepair 1000+ v1.2131 PKD1L1 Zornitza Stark Marked gene: PKD1L1 as ready
Prepair 1000+ v1.2131 PKD1L1 Zornitza Stark Gene: pkd1l1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2131 PKD1L1 Zornitza Stark Tag for review was removed from gene: PKD1L1.
Prepair 1000+ v1.2131 TBC1D20 Lilian Downie Classified gene: TBC1D20 as Green List (high evidence)
Prepair 1000+ v1.2131 TBC1D20 Lilian Downie Gene: tbc1d20 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2130 PKD1L1 Zornitza Stark reviewed gene: PKD1L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Heterotaxy, visceral, 8, autosomal MIM#617205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2130 MFRP Zornitza Stark Classified gene: MFRP as Green List (high evidence)
Prepair 1000+ v1.2130 MFRP Zornitza Stark Gene: mfrp has been classified as Green List (High Evidence).
Prepair 1000+ v1.2129 MFRP Zornitza Stark Tag for review was removed from gene: MFRP.
Prepair 1000+ v1.2129 ITGA3 Lilian Downie Classified gene: ITGA3 as Green List (high evidence)
Prepair 1000+ v1.2129 ITGA3 Lilian Downie Gene: itga3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2128 ISCA1 Zornitza Stark Marked gene: ISCA1 as ready
Prepair 1000+ v1.2128 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2128 ISCA1 Zornitza Stark Classified gene: ISCA1 as Green List (high evidence)
Prepair 1000+ v1.2128 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2127 ISCA1 Zornitza Stark Tag for review was removed from gene: ISCA1.
Prepair 1000+ v1.2127 IMPG2 Zornitza Stark Marked gene: IMPG2 as ready
Prepair 1000+ v1.2127 IMPG2 Zornitza Stark Gene: impg2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2127 IMPG2 Zornitza Stark Publications for gene: IMPG2 were set to
Prepair 1000+ v1.2126 IMPG2 Zornitza Stark Classified gene: IMPG2 as Green List (high evidence)
Prepair 1000+ v1.2126 IMPG2 Zornitza Stark Gene: impg2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2125 IMPG2 Zornitza Stark Tag for review was removed from gene: IMPG2.
Prepair 1000+ v1.2125 HBA2 Seb Lunke Tag SV/CNV tag was added to gene: HBA2.
Prepair 1000+ v1.2125 HBA2 Zornitza Stark Marked gene: HBA2 as ready
Prepair 1000+ v1.2125 HBA2 Zornitza Stark Added comment: Comment when marking as ready: Discussed again: remains technically challenging therefore not suitable for inclusion. Other screening publicly available in pregnancy.
Prepair 1000+ v1.2125 HBA2 Zornitza Stark Gene: hba2 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2125 HBA2 Zornitza Stark Tag for review was removed from gene: HBA2.
Prepair 1000+ v1.2125 HBA1 Seb Lunke Tag SV/CNV tag was added to gene: HBA1.
Prepair 1000+ v1.2125 HBA1 Zornitza Stark Marked gene: HBA1 as ready
Prepair 1000+ v1.2125 HBA1 Zornitza Stark Added comment: Comment when marking as ready: Discussed again: remains technically challenging therefore not suitable for inclusion. Other screening publicly available in pregnancy.
Prepair 1000+ v1.2125 HBA1 Zornitza Stark Gene: hba1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2125 GTPBP2 Lilian Downie Classified gene: GTPBP2 as Green List (high evidence)
Prepair 1000+ v1.2125 GTPBP2 Lilian Downie Gene: gtpbp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2124 HBA1 Zornitza Stark Tag for review was removed from gene: HBA1.
Prepair 1000+ v1.2124 GTPBP2 Lilian Downie Tag for review was removed from gene: GTPBP2.
Prepair 1000+ v1.2124 IGHM Seb Lunke Classified gene: IGHM as Green List (high evidence)
Prepair 1000+ v1.2124 IGHM Seb Lunke Added comment: Comment on list classification: Caution: Gene has annotation issues due to lack of refseq transcript annotation and maybe missed by some analysis pipelines. Checked ok for prepair+
Prepair 1000+ v1.2124 IGHM Seb Lunke Gene: ighm has been classified as Green List (High Evidence).
Prepair 1000+ v1.2123 FITM2 Zornitza Stark Marked gene: FITM2 as ready
Prepair 1000+ v1.2123 FITM2 Zornitza Stark Gene: fitm2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2123 FITM2 Zornitza Stark Classified gene: FITM2 as Green List (high evidence)
Prepair 1000+ v1.2123 FITM2 Zornitza Stark Gene: fitm2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2122 FITM2 Zornitza Stark Tag for review was removed from gene: FITM2.
Prepair 1000+ v1.2122 CSMD1 Lilian Downie Classified gene: CSMD1 as Green List (high evidence)
Prepair 1000+ v1.2122 CSMD1 Lilian Downie Gene: csmd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2121 CSMD1 Lilian Downie Tag for review was removed from gene: CSMD1.
Prepair 1000+ v1.2121 COG5 Zornitza Stark Classified gene: COG5 as Green List (high evidence)
Prepair 1000+ v1.2121 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2120 COG5 Zornitza Stark Tag for review was removed from gene: COG5.
Prepair 1000+ v1.2120 CHM Zornitza Stark Marked gene: CHM as ready
Prepair 1000+ v1.2120 CHM Zornitza Stark Added comment: Comment when marking as ready: Not suitable for reproductive carrier screening.
Prepair 1000+ v1.2120 CHM Zornitza Stark Gene: chm has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2120 BCAP31 Lilian Downie Classified gene: BCAP31 as Green List (high evidence)
Prepair 1000+ v1.2120 BCAP31 Lilian Downie Gene: bcap31 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2119 BCAP31 Lilian Downie Tag for review was removed from gene: BCAP31.
Prepair 1000+ v1.2119 CHM Zornitza Stark Tag for review was removed from gene: CHM.
Prepair 1000+ v1.2119 ACY1 Zornitza Stark Classified gene: ACY1 as Green List (high evidence)
Prepair 1000+ v1.2119 ACY1 Zornitza Stark Gene: acy1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2118 TTN Zornitza Stark Phenotypes for gene: TTN were changed from Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3) to TTN-related myopathy MONDO:0100175
Prepair 1000+ v1.2117 XPNPEP3 Lilian Downie Classified gene: XPNPEP3 as Green List (high evidence)
Prepair 1000+ v1.2117 XPNPEP3 Lilian Downie Gene: xpnpep3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2116 TTN Zornitza Stark Publications for gene: TTN were set to
Prepair 1000+ v1.2115 XPNPEP3 Lilian Downie Tag for review was removed from gene: XPNPEP3.
Prepair 1000+ v1.2115 TTN Zornitza Stark Classified gene: TTN as Green List (high evidence)
Prepair 1000+ v1.2115 TTN Zornitza Stark Gene: ttn has been classified as Green List (High Evidence).
Prepair 1000+ v1.2114 TTN Zornitza Stark reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: TTN-related myopathy MONDO:0100175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2114 TMEM94 Lilian Downie Classified gene: TMEM94 as Green List (high evidence)
Prepair 1000+ v1.2114 TMEM94 Lilian Downie Gene: tmem94 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2113 TMEM94 Lilian Downie Tag for review was removed from gene: TMEM94.
Prepair 1000+ v1.2113 POLA1 Zornitza Stark Marked gene: POLA1 as ready
Prepair 1000+ v1.2113 POLA1 Zornitza Stark Added comment: Comment when marking as ready: Inclusion assumes appropriate coverage by capture method (checked for Prepair+)
Prepair 1000+ v1.2113 POLA1 Zornitza Stark Gene: pola1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2113 POLA1 Zornitza Stark Tag for review was removed from gene: POLA1.
Prepair 1000+ v1.2113 POLA1 Zornitza Stark Classified gene: POLA1 as Green List (high evidence)
Prepair 1000+ v1.2113 POLA1 Zornitza Stark Gene: pola1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2112 NTNG2 Lilian Downie Classified gene: NTNG2 as Green List (high evidence)
Prepair 1000+ v1.2112 NTNG2 Lilian Downie Gene: ntng2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2111 NTNG2 Lilian Downie Tag for review was removed from gene: NTNG2.
Prepair 1000+ v1.2111 NCF1 Zornitza Stark Marked gene: NCF1 as ready
Prepair 1000+ v1.2111 NCF1 Zornitza Stark Added comment: Comment when marking as ready: Remains technically challenging, therefore exclude from V2.
Prepair 1000+ v1.2111 NCF1 Zornitza Stark Gene: ncf1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2111 MOGS Lilian Downie Classified gene: MOGS as Green List (high evidence)
Prepair 1000+ v1.2111 MOGS Lilian Downie Gene: mogs has been classified as Green List (High Evidence).
Prepair 1000+ v1.2110 MOGS Lilian Downie Tag for review was removed from gene: MOGS.
Prepair 1000+ v1.2110 MBTPS1 Zornitza Stark Phenotypes for gene: MBTPS1 were changed from ?Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM #618392 to Spondyloepiphyseal dysplasia, Kondo-Fu type MIM#618392
Prepair 1000+ v1.2109 MBTPS1 Zornitza Stark Classified gene: MBTPS1 as Green List (high evidence)
Prepair 1000+ v1.2109 MBTPS1 Zornitza Stark Gene: mbtps1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2108 DYNC1I2 Seb Lunke Classified gene: DYNC1I2 as Green List (high evidence)
Prepair 1000+ v1.2108 DYNC1I2 Seb Lunke Gene: dync1i2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2107 DYNC1I2 Seb Lunke Tag for review was removed from gene: DYNC1I2.
Prepair 1000+ v1.2107 ERBB3 Zornitza Stark Phenotypes for gene: ERBB3 were changed from Visceral neuropathy, familial, 1, autosomal recessive MIM#243180 to Visceral neuropathy, familial, 1, autosomal recessive MIM#243180; Lethal congenital contractural syndrome 2 MIM#607598
Prepair 1000+ v1.2106 CSTB Seb Lunke Tag for review was removed from gene: CSTB.
Prepair 1000+ v1.2106 ERBB3 Zornitza Stark Classified gene: ERBB3 as Green List (high evidence)
Prepair 1000+ v1.2106 ERBB3 Zornitza Stark Gene: erbb3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2105 CERKL Lilian Downie commented on gene: CERKL
Prepair 1000+ v1.2105 B9D1 Zornitza Stark Classified gene: B9D1 as Green List (high evidence)
Prepair 1000+ v1.2105 B9D1 Zornitza Stark Gene: b9d1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2104 ADPRHL2 Seb Lunke Classified gene: ADPRHL2 as Green List (high evidence)
Prepair 1000+ v1.2104 ADPRHL2 Seb Lunke Gene: adprhl2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2103 VKORC1 Zornitza Stark Marked gene: VKORC1 as ready
Prepair 1000+ v1.2103 VKORC1 Zornitza Stark Added comment: Comment when marking as ready: Treatable condition, vast majority receive Vitamin K at birth; not in scope for panel.
Prepair 1000+ v1.2103 VKORC1 Zornitza Stark Gene: vkorc1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2103 VKORC1 Zornitza Stark Phenotypes for gene: VKORC1 were changed from Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3) to Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM#607473
Prepair 1000+ v1.2102 VKORC1 Zornitza Stark Publications for gene: VKORC1 were set to
Prepair 1000+ v1.2101 VKORC1 Zornitza Stark Classified gene: VKORC1 as Red List (low evidence)
Prepair 1000+ v1.2101 VKORC1 Zornitza Stark Gene: vkorc1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2100 RNU4ATAC Lilian Downie commented on gene: RNU4ATAC
Prepair 1000+ v1.2100 VKORC1 Zornitza Stark Tag for review was removed from gene: VKORC1.
Prepair 1000+ v1.2100 RNU4ATAC Lilian Downie Tag for review was removed from gene: RNU4ATAC.
Prepair 1000+ v1.2100 SURF1 Zornitza Stark Tag for review was removed from gene: SURF1.
Prepair 1000+ v1.2100 SLC9A3 Seb Lunke Classified gene: SLC9A3 as Amber List (moderate evidence)
Prepair 1000+ v1.2100 SLC9A3 Seb Lunke Gene: slc9a3 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2099 RCBTB1 Zornitza Stark Marked gene: RCBTB1 as ready
Prepair 1000+ v1.2099 RCBTB1 Zornitza Stark Added comment: Comment when marking as ready: Currently, onset appears to mostly in adulthood. Demote and review in the future re new reports with earlier onset.
Prepair 1000+ v1.2099 RCBTB1 Zornitza Stark Gene: rcbtb1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2099 RCBTB1 Zornitza Stark Phenotypes for gene: RCBTB1 were changed from Retinal dystrophy with or without extraocular anomalies, 617175 (3), Autosomal recessive to Retinal dystrophy with or without extraocular anomalies (MIM#617175)
Prepair 1000+ v1.2098 RCBTB1 Zornitza Stark Publications for gene: RCBTB1 were set to
Prepair 1000+ v1.2097 RCBTB1 Zornitza Stark Classified gene: RCBTB1 as Amber List (moderate evidence)
Prepair 1000+ v1.2097 RCBTB1 Zornitza Stark Gene: rcbtb1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2096 RCBTB1 Zornitza Stark Tag for review was removed from gene: RCBTB1.
Prepair 1000+ v1.2096 RARB Seb Lunke Classified gene: RARB as Amber List (moderate evidence)
Prepair 1000+ v1.2096 RARB Seb Lunke Added comment: Comment on list classification: Insufficient evidence for recessive disease
Prepair 1000+ v1.2096 RARB Seb Lunke Gene: rarb has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2095 PRICKLE1 Zornitza Stark Marked gene: PRICKLE1 as ready
Prepair 1000+ v1.2095 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2095 PRICKLE1 Zornitza Stark Phenotypes for gene: PRICKLE1 were changed from Epilepsy, progressive myoclonic 1B, 612437 (3) to Epilepsy, progressive myoclonic 1B, MIM# 612437
Prepair 1000+ v1.2094 PRICKLE1 Zornitza Stark Classified gene: PRICKLE1 as Red List (low evidence)
Prepair 1000+ v1.2094 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2093 LRSAM1 Seb Lunke Classified gene: LRSAM1 as Amber List (moderate evidence)
Prepair 1000+ v1.2093 LRSAM1 Seb Lunke Added comment: Comment on list classification: Insufficient evidence for recessive
Prepair 1000+ v1.2093 LRSAM1 Seb Lunke Gene: lrsam1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2092 LIPC Zornitza Stark Marked gene: LIPC as ready
Prepair 1000+ v1.2092 LIPC Zornitza Stark Gene: lipc has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2092 LIPC Zornitza Stark Phenotypes for gene: LIPC were changed from Hepatic lipase deficiency, 614025 (3) to Hepatic lipase deficiency, MIM# 614025
Prepair 1000+ v1.2091 LIPC Zornitza Stark Tag for review was removed from gene: LIPC.
Prepair 1000+ v1.2091 LIPC Zornitza Stark Classified gene: LIPC as Red List (low evidence)
Prepair 1000+ v1.2091 LIPC Zornitza Stark Gene: lipc has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2090 LIPC Zornitza Stark edited their review of gene: LIPC: Changed rating: RED
Prepair 1000+ v1.2090 LCAT Lilian Downie Classified gene: LCAT as Red List (low evidence)
Prepair 1000+ v1.2090 LCAT Lilian Downie Added comment: Comment on list classification: Adult onset
Prepair 1000+ v1.2090 LCAT Lilian Downie Gene: lcat has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2089 LCAT Lilian Downie Tag for review was removed from gene: LCAT.
Prepair 1000+ v1.2089 HPD Zornitza Stark Tag for review was removed from gene: HPD.
Prepair 1000+ v1.2089 HBB Zornitza Stark Marked gene: HBB as ready
Prepair 1000+ v1.2089 HBB Zornitza Stark Gene: hbb has been classified as Green List (High Evidence).
Prepair 1000+ v1.2089 HBB Zornitza Stark Phenotypes for gene: HBB were changed from Thalassemias, beta-, 613985 (3) to Thalassemias, beta-, 613985; Sickle cell anaemia, MIM# 603903
Prepair 1000+ v1.2088 CSTB Seb Lunke Tag STR tag was added to gene: CSTB.
Prepair 1000+ v1.2088 HBB Zornitza Stark Tag for review was removed from gene: HBB.
Prepair 1000+ v1.2088 GNE Lilian Downie Classified gene: GNE as Red List (low evidence)
Prepair 1000+ v1.2088 GNE Lilian Downie Added comment: Comment on list classification: Adult onset
Prepair 1000+ v1.2088 GNE Lilian Downie Gene: gne has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2087 GNE Lilian Downie Tag for review was removed from gene: GNE.
Prepair 1000+ v1.2087 CTSF Zornitza Stark Marked gene: CTSF as ready
Prepair 1000+ v1.2087 CTSF Zornitza Stark Added comment: Comment when marking as ready: Generally adult onset, out of scope for panel.
Prepair 1000+ v1.2087 CTSF Zornitza Stark Gene: ctsf has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2087 CSTB Seb Lunke Classified gene: CSTB as Amber List (moderate evidence)
Prepair 1000+ v1.2087 CSTB Seb Lunke Added comment: Comment on list classification: Common dodecamer repeat accounts for 90% of variants, not detectable
Prepair 1000+ v1.2087 CSTB Seb Lunke Gene: cstb has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2086 CTSF Zornitza Stark Tag for review was removed from gene: CTSF.
Prepair 1000+ v1.2086 CTSF Zornitza Stark Classified gene: CTSF as Red List (low evidence)
Prepair 1000+ v1.2086 CTSF Zornitza Stark Gene: ctsf has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2085 CLN3 Zornitza Stark Marked gene: CLN3 as ready
Prepair 1000+ v1.2085 CLN3 Zornitza Stark Added comment: Comment when marking as ready: Downgrade to Amber until CNV analysis included.
Prepair 1000+ v1.2085 CLN3 Zornitza Stark Gene: cln3 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2085 CLN3 Zornitza Stark Classified gene: CLN3 as Amber List (moderate evidence)
Prepair 1000+ v1.2085 CLN3 Zornitza Stark Gene: cln3 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2084 CLCNKB Zornitza Stark Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 4b, digenic, 613090 (3) to Bartter syndrome, type 3 MIM#607364
Prepair 1000+ v1.2083 CLCNKB Zornitza Stark Marked gene: CLCNKB as ready
Prepair 1000+ v1.2083 CLCNKB Zornitza Stark Added comment: Comment when marking as ready: Digenic forms out of scope for this panel.
Prepair 1000+ v1.2083 CLCNKB Zornitza Stark Gene: clcnkb has been classified as Green List (High Evidence).
Prepair 1000+ v1.2083 CLCNKB Zornitza Stark Tag for review was removed from gene: CLCNKB.
Prepair 1000+ v1.2083 CCDC8 Zornitza Stark Tag for review was removed from gene: CCDC8.
Prepair 1000+ v1.2083 CHMP1A Zornitza Stark Tag for review tag was added to gene: CHMP1A.
Prepair 1000+ v1.2083 BRIP1 Zornitza Stark Marked gene: BRIP1 as ready
Prepair 1000+ v1.2083 BRIP1 Zornitza Stark Added comment: Comment when marking as ready: Other FA genes not included in panel.
Prepair 1000+ v1.2083 BRIP1 Zornitza Stark Gene: brip1 has been removed from the panel.
Prepair 1000+ v1.2083 BRIP1 Zornitza Stark Tag for review tag was added to gene: BRIP1.
Prepair 1000+ v1.2083 AMN Zornitza Stark Tag for review tag was added to gene: AMN.
Prepair 1000+ v1.2083 TRAPPC12 Zornitza Stark Marked gene: TRAPPC12 as ready
Prepair 1000+ v1.2083 TRAPPC12 Zornitza Stark Added comment: Comment when marking as ready: Upgrade to Green in V2.
Prepair 1000+ v1.2083 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2083 TBC1D20 Zornitza Stark Marked gene: TBC1D20 as ready
Prepair 1000+ v1.2083 TBC1D20 Zornitza Stark Added comment: Comment when marking as ready: Upgrade to Green in V2.
Prepair 1000+ v1.2083 TBC1D20 Zornitza Stark Gene: tbc1d20 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2083 TBC1D20 Zornitza Stark Tag for review tag was added to gene: TBC1D20.
Prepair 1000+ v1.2083 OPN1LW Zornitza Stark Marked gene: OPN1LW as ready
Prepair 1000+ v1.2083 OPN1LW Zornitza Stark Gene: opn1lw has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2083 OPN1LW Zornitza Stark Publications for gene: OPN1LW were set to
Prepair 1000+ v1.2082 SLC39A4 Zornitza Stark Marked gene: SLC39A4 as ready
Prepair 1000+ v1.2082 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2082 SLC39A4 Zornitza Stark Phenotypes for gene: SLC39A4 were changed from Acrodermatitis enteropathica, 201100 (3) to Acrodermatitis enteropathica, MIM# 201100
Prepair 1000+ v1.2081 SLC39A4 Zornitza Stark Publications for gene: SLC39A4 were set to
Prepair 1000+ v1.2080 SLC39A4 Zornitza Stark reviewed gene: SLC39A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19370757; Phenotypes: Acrodermatitis enteropathica, MIM# 201100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2080 SLC30A10 Zornitza Stark Marked gene: SLC30A10 as ready
Prepair 1000+ v1.2080 SLC30A10 Zornitza Stark Gene: slc30a10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2080 SLC30A10 Zornitza Stark Phenotypes for gene: SLC30A10 were changed from Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 (3) to Hypermanganesemia with dystonia 1, MIM#613280
Prepair 1000+ v1.2079 SLC30A10 Zornitza Stark Publications for gene: SLC30A10 were set to
Prepair 1000+ v1.2078 SLC12A5 Zornitza Stark Marked gene: SLC12A5 as ready
Prepair 1000+ v1.2078 SLC12A5 Zornitza Stark Gene: slc12a5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2078 SLC12A5 Zornitza Stark Phenotypes for gene: SLC12A5 were changed from Epileptic encephalopathy, early infantile, 34, 616645 (3), Autosomal recessive to Developmental and epileptic encephalopathy 34 MIM#616645
Prepair 1000+ v1.2077 SLC12A5 Zornitza Stark Publications for gene: SLC12A5 were set to
Prepair 1000+ v1.2076 SEC23B Zornitza Stark Marked gene: SEC23B as ready
Prepair 1000+ v1.2076 SEC23B Zornitza Stark Gene: sec23b has been classified as Green List (High Evidence).
Prepair 1000+ v1.2076 SEC23B Zornitza Stark Phenotypes for gene: SEC23B were changed from Dyserythropoietic anemia, congenital, type II, 224100 (3) to Dyserythropoietic anaemia, congenital, type II MIM#224100
Prepair 1000+ v1.2075 SEC23B Zornitza Stark Publications for gene: SEC23B were set to
Prepair 1000+ v1.2074 SCNN1B Zornitza Stark Marked gene: SCNN1B as ready
Prepair 1000+ v1.2074 SCNN1B Zornitza Stark Gene: scnn1b has been classified as Green List (High Evidence).
Prepair 1000+ v1.2074 SCNN1B Zornitza Stark Phenotypes for gene: SCNN1B were changed from Pseudohypoaldosteronism, type I, 264350 (3) to Pseudohypoaldosteronism, type IB2, autosomal recessive, MIM#620125
Prepair 1000+ v1.2073 SCNN1B Zornitza Stark Publications for gene: SCNN1B were set to
Prepair 1000+ v1.2072 SCN9A Zornitza Stark Marked gene: SCN9A as ready
Prepair 1000+ v1.2072 SCN9A Zornitza Stark Gene: scn9a has been classified as Green List (High Evidence).
Prepair 1000+ v1.2072 SCN9A Zornitza Stark Phenotypes for gene: SCN9A were changed from Insensitivity to pain, congenital, 243000 (3) to Insensitivity to pain, congenital, MIM# 243000
Prepair 1000+ v1.2071 SCN9A Zornitza Stark Publications for gene: SCN9A were set to
Prepair 1000+ v1.2070 SAMHD1 Zornitza Stark Marked gene: SAMHD1 as ready
Prepair 1000+ v1.2070 SAMHD1 Zornitza Stark Gene: samhd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2070 SAMHD1 Zornitza Stark Phenotypes for gene: SAMHD1 were changed from Aicardi-Goutieres syndrome 5, 612952 (3) to Aicardi-Goutieres syndrome 5, MIM# 612952
Prepair 1000+ v1.2069 SAMHD1 Zornitza Stark reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2069 RRM2B Zornitza Stark Marked gene: RRM2B as ready
Prepair 1000+ v1.2069 RRM2B Zornitza Stark Gene: rrm2b has been classified as Green List (High Evidence).
Prepair 1000+ v1.2069 RRM2B Zornitza Stark Phenotypes for gene: RRM2B were changed from Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3) to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075
Prepair 1000+ v1.2068 RRM2B Zornitza Stark reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2068 ROR2 Zornitza Stark Marked gene: ROR2 as ready
Prepair 1000+ v1.2068 ROR2 Zornitza Stark Gene: ror2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2068 ROR2 Zornitza Stark Phenotypes for gene: ROR2 were changed from Robinow syndrome, autosomal recessive, 268310 (3) to Robinow syndrome, autosomal recessive MIM# 268310
Prepair 1000+ v1.2067 ROR2 Zornitza Stark reviewed gene: ROR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow syndrome, autosomal recessive MIM# 268310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2067 RNASET2 Zornitza Stark Marked gene: RNASET2 as ready
Prepair 1000+ v1.2067 RNASET2 Zornitza Stark Gene: rnaset2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2067 RNASET2 Zornitza Stark Phenotypes for gene: RNASET2 were changed from Leukoencephalopathy, cystic, without megalencephaly, 612951 (3) to Leukoencephalopathy, cystic, without megalencephaly MIM#612951
Prepair 1000+ v1.2066 RNASET2 Zornitza Stark Publications for gene: RNASET2 were set to
Prepair 1000+ v1.2065 RNASEH2A Zornitza Stark Marked gene: RNASEH2A as ready
Prepair 1000+ v1.2065 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Green List (High Evidence).
Prepair 1000+ v1.2065 RNASEH2A Zornitza Stark Phenotypes for gene: RNASEH2A were changed from Aicardi-Goutieres syndrome 4, 610333 (3) to Aicardi-Goutieres syndrome 4 MIM#610333; RNASEH2A-related type 1 interferonopathy MONDO:0700259
Prepair 1000+ v1.2064 RNASEH2A Zornitza Stark Publications for gene: RNASEH2A were set to
Prepair 1000+ v1.2063 RFX6 Zornitza Stark Marked gene: RFX6 as ready
Prepair 1000+ v1.2063 RFX6 Zornitza Stark Gene: rfx6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2063 RFX6 Zornitza Stark Phenotypes for gene: RFX6 were changed from Mitchell-Riley syndrome, 615710 (3) to Mitchell-Riley syndrome, MIM# 615710
Prepair 1000+ v1.2062 RFX6 Zornitza Stark reviewed gene: RFX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitchell-Riley syndrome, MIM# 615710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2062 RFT1 Zornitza Stark Marked gene: RFT1 as ready
Prepair 1000+ v1.2062 RFT1 Zornitza Stark Gene: rft1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2062 RFT1 Zornitza Stark Phenotypes for gene: RFT1 were changed from Congenital disorder of glycosylation, type In, 612015 (3) to Congenital disorder of glycosylation, type In, MIM# 612015
Prepair 1000+ v1.2061 RFT1 Zornitza Stark Publications for gene: RFT1 were set to
Prepair 1000+ v1.2060 RFT1 Zornitza Stark reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313027, 19701946, 19856127, 23111317, 30071302, 29923091, 27927990, 26892341; Phenotypes: Congenital disorder of glycosylation, type In, MIM# 612015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2060 RD3 Zornitza Stark Marked gene: RD3 as ready
Prepair 1000+ v1.2060 RD3 Zornitza Stark Gene: rd3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2060 RD3 Zornitza Stark reviewed gene: RD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber congenital amaurosis 12, MIM#610612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2060 RARB Zornitza Stark Tag for review tag was added to gene: RARB.
Prepair 1000+ v1.2060 RAG1 Zornitza Stark Marked gene: RAG1 as ready
Prepair 1000+ v1.2060 RAG1 Zornitza Stark Gene: rag1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2060 RAG1 Zornitza Stark Phenotypes for gene: RAG1 were changed from Severe combined immunodeficiency, B cell-negative, 601457 (3) to Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889; Combined cellular and humoral immune defects with granulomas MIM# 233650; Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457
Prepair 1000+ v1.2059 RAG1 Zornitza Stark reviewed gene: RAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889, Combined cellular and humoral immune defects with granulomas MIM# 233650, Omenn syndrome MIM# 603554, Severe combined immunodeficiency, B cell-negative MIM# 601457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2059 PYCR1 Zornitza Stark Marked gene: PYCR1 as ready
Prepair 1000+ v1.2059 PYCR1 Zornitza Stark Gene: pycr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2059 PYCR1 Zornitza Stark Phenotypes for gene: PYCR1 were changed from Cutis laxa, autosomal recessive, type IIB, 612940 (3) to Cutis laxa, autosomal recessive, type IIB MIM#612940; Cutis laxa, autosomal recessive, type IIIB MIM#614438
Prepair 1000+ v1.2058 PYCR1 Zornitza Stark reviewed gene: PYCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIB MIM#612940, Cutis laxa, autosomal recessive, type IIIB MIM#614438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2058 PSMB8 Zornitza Stark Marked gene: PSMB8 as ready
Prepair 1000+ v1.2058 PSMB8 Zornitza Stark Gene: psmb8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2058 PSMB8 Zornitza Stark Phenotypes for gene: PSMB8 were changed from Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (3) to Proteasome-associated autoinflammatory syndrome 1, MIM# 256040; MONDO:0054698
Prepair 1000+ v1.2057 PSMB8 Zornitza Stark Publications for gene: PSMB8 were set to
Prepair 1000+ v1.2056 PSMB8 Zornitza Stark reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129723, 21881205, 21852578, 21953331; Phenotypes: Proteasome-associated autoinflammatory syndrome 1, MIM# 256040, MONDO:0054698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2056 PROS1 Zornitza Stark Marked gene: PROS1 as ready
Prepair 1000+ v1.2056 PROS1 Zornitza Stark Gene: pros1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2056 PROS1 Zornitza Stark Phenotypes for gene: PROS1 were changed from Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3) to Thrombophilia 5 due to protein S deficiency, autosomal recessive #614514
Prepair 1000+ v1.2055 PROS1 Zornitza Stark reviewed gene: PROS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 5 due to protein S deficiency, autosomal recessive #614514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2055 PPIB Zornitza Stark Marked gene: PPIB as ready
Prepair 1000+ v1.2055 PPIB Zornitza Stark Gene: ppib has been classified as Green List (High Evidence).
Prepair 1000+ v1.2055 PPIB Zornitza Stark Phenotypes for gene: PPIB were changed from Osteogenesis imperfecta, type IX, #259440 to Osteogenesis imperfecta, type IX MIM#259440
Prepair 1000+ v1.2054 PPIB Zornitza Stark Publications for gene: PPIB were set to
Prepair 1000+ v1.2053 POMT2 Zornitza Stark Marked gene: POMT2 as ready
Prepair 1000+ v1.2053 POMT2 Zornitza Stark Gene: pomt2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2053 POMT2 Zornitza Stark Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, MIM# 613156
Prepair 1000+ v1.2052 POMT2 Zornitza Stark Publications for gene: POMT2 were set to
Prepair 1000+ v1.2051 POLG Zornitza Stark Marked gene: POLG as ready
Prepair 1000+ v1.2051 POLG Zornitza Stark Gene: polg has been classified as Green List (High Evidence).
Prepair 1000+ v1.2051 POLG Zornitza Stark Phenotypes for gene: POLG were changed from Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3) to Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM#613662
Prepair 1000+ v1.2050 POLG Zornitza Stark reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM#613662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2050 PNPLA6 Zornitza Stark Marked gene: PNPLA6 as ready
Prepair 1000+ v1.2050 PNPLA6 Zornitza Stark Gene: pnpla6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2050 PNPLA6 Zornitza Stark Phenotypes for gene: PNPLA6 were changed from Boucher-Neuhauser syndrome, 215470 (3) to Boucher-Neuhauser syndrome MIM#215470; Oliver-McFarlane syndrome MIM#275400; Spastic paraplegia 39, autosomal recessive MIM#612020
Prepair 1000+ v1.2049 PNPLA6 Zornitza Stark Publications for gene: PNPLA6 were set to
Prepair 1000+ v1.2048 PNP Zornitza Stark Marked gene: PNP as ready
Prepair 1000+ v1.2048 PNP Zornitza Stark Gene: pnp has been classified as Green List (High Evidence).
Prepair 1000+ v1.2048 PNP Zornitza Stark Publications for gene: PNP were set to
Prepair 1000+ v1.2047 PNP Zornitza Stark edited their review of gene: PNP: Changed publications: 3029074, 1384322, 11453975, 32695102, 32514656
Prepair 1000+ v1.2047 PNP Zornitza Stark Phenotypes for gene: PNP were changed from Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3) to Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179
Prepair 1000+ v1.2046 PNP Zornitza Stark reviewed gene: PNP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2046 PHF6 Zornitza Stark Marked gene: PHF6 as ready
Prepair 1000+ v1.2046 PHF6 Zornitza Stark Gene: phf6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2046 PHF6 Zornitza Stark Phenotypes for gene: PHF6 were changed from Borjeson-Forssman-Lehmann syndrome, 301900 (3) to Borjeson-Forssman-Lehmann syndrome, MIM# 301900
Prepair 1000+ v1.2045 PHF6 Zornitza Stark reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Borjeson-Forssman-Lehmann syndrome, MIM# 301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.2045 PET100 Zornitza Stark Marked gene: PET100 as ready
Prepair 1000+ v1.2045 PET100 Zornitza Stark Gene: pet100 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2045 PET100 Zornitza Stark Phenotypes for gene: PET100 were changed from Mitochondrial complex IV deficiency, 220110 (3) to Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055
Prepair 1000+ v1.2044 PET100 Zornitza Stark reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2044 PDP1 Zornitza Stark Marked gene: PDP1 as ready
Prepair 1000+ v1.2044 PDP1 Zornitza Stark Gene: pdp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2044 PDP1 Zornitza Stark Phenotypes for gene: PDP1 were changed from Pyruvate dehydrogenase phosphatase deficiency, 608782 (3) to Pyruvate dehydrogenase phosphatase deficiency,MIM#608782
Prepair 1000+ v1.2043 PDP1 Zornitza Stark Publications for gene: PDP1 were set to
Prepair 1000+ v1.2042 PCSK1 Zornitza Stark Marked gene: PCSK1 as ready
Prepair 1000+ v1.2042 PCSK1 Zornitza Stark Gene: pcsk1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2042 PCSK1 Zornitza Stark Phenotypes for gene: PCSK1 were changed from Obesity with impaired prohormone processing, 600955 (3) to Endocrinopathy due to proprotein convertase 1/3 deficiency,MIM#600955
Prepair 1000+ v1.2041 PCSK1 Zornitza Stark Publications for gene: PCSK1 were set to
Prepair 1000+ v1.2040 PCCA Zornitza Stark Marked gene: PCCA as ready
Prepair 1000+ v1.2040 PCCA Zornitza Stark Gene: pcca has been classified as Green List (High Evidence).
Prepair 1000+ v1.2040 PCCA Zornitza Stark Phenotypes for gene: PCCA were changed from Propionicacidemia, 606054 (3) to Propionicacidemia, MIM#606054
Prepair 1000+ v1.2039 PCCA Zornitza Stark Publications for gene: PCCA were set to
Prepair 1000+ v1.2038 PAK3 Zornitza Stark Marked gene: PAK3 as ready
Prepair 1000+ v1.2038 PAK3 Zornitza Stark Gene: pak3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2038 PAK3 Zornitza Stark Phenotypes for gene: PAK3 were changed from Mental retardation, X-linked 30/47, 300558 (3) to Intellectual developmental disorder, X-linked 30 MIM#300558
Prepair 1000+ v1.2037 PAK3 Zornitza Stark Publications for gene: PAK3 were set to
Prepair 1000+ v1.2036 PAH Zornitza Stark Marked gene: PAH as ready
Prepair 1000+ v1.2036 PAH Zornitza Stark Gene: pah has been classified as Green List (High Evidence).
Prepair 1000+ v1.2036 PAH Zornitza Stark Phenotypes for gene: PAH were changed from Phenylketonuria, 261600 (3) to Phenylketonuria, MIM#261600
Prepair 1000+ v1.2035 PAH Zornitza Stark Publications for gene: PAH were set to
Prepair 1000+ v1.2034 OTUD6B Zornitza Stark Marked gene: OTUD6B as ready
Prepair 1000+ v1.2034 OTUD6B Zornitza Stark Gene: otud6b has been classified as Green List (High Evidence).
Prepair 1000+ v1.2034 OTUD6B Zornitza Stark Phenotypes for gene: OTUD6B were changed from Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3), Autosomal recessive to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies,MIM#617452
Prepair 1000+ v1.2033 OTUD6B Zornitza Stark Publications for gene: OTUD6B were set to
Prepair 1000+ v1.2032 LRSAM1 Lilian Downie Marked gene: LRSAM1 as ready
Prepair 1000+ v1.2032 LRSAM1 Lilian Downie Added comment: Comment when marking as ready: Only single AR family reported, insufficient evidence, downgrade to RED
Prepair 1000+ v1.2032 LRSAM1 Lilian Downie Gene: lrsam1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2032 LRSAM1 Lilian Downie Publications for gene: LRSAM1 were set to
Prepair 1000+ v1.2031 OSGEP Zornitza Stark Marked gene: OSGEP as ready
Prepair 1000+ v1.2031 OSGEP Zornitza Stark Gene: osgep has been classified as Green List (High Evidence).
Prepair 1000+ v1.2031 OSGEP Zornitza Stark Phenotypes for gene: OSGEP were changed from Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive to Galloway-Mowat syndrome 3, MIM# 617729
Prepair 1000+ v1.2030 OSGEP Zornitza Stark Publications for gene: OSGEP were set to
Prepair 1000+ v1.2029 OSGEP Zornitza Stark reviewed gene: OSGEP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 28272532; Phenotypes: Galloway-Mowat syndrome 3, MIM# 617729; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2029 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Prepair 1000+ v1.2029 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2029 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from Behr syndrome, 210000 (3), Autosomal recessive to Behr syndrome, MIM#210000
Prepair 1000+ v1.2028 OPA1 Zornitza Stark Publications for gene: OPA1 were set to
Prepair 1000+ v1.2027 PUS7 Lilian Downie Marked gene: PUS7 as ready
Prepair 1000+ v1.2027 PUS7 Lilian Downie Added comment: Comment when marking as ready: Upgrade to green
Prepair 1000+ v1.2027 PUS7 Lilian Downie Gene: pus7 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2027 NUP107 Zornitza Stark Marked gene: NUP107 as ready
Prepair 1000+ v1.2027 NUP107 Zornitza Stark Gene: nup107 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2027 NUP107 Zornitza Stark Phenotypes for gene: NUP107 were changed from Nephrotic syndrome, type 11, 616730 (3), Autosomal recessive to Galloway-Mowat syndrome 7, MIM#618348; Nephrotic syndrome, type 11, MIM#616730
Prepair 1000+ v1.2026 NUP107 Zornitza Stark Publications for gene: NUP107 were set to
Prepair 1000+ v1.2025 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Prepair 1000+ v1.2025 NUBPL Zornitza Stark Gene: nubpl has been classified as Green List (High Evidence).
Prepair 1000+ v1.2025 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 21, MIM#618242
Prepair 1000+ v1.2024 NUBPL Zornitza Stark Publications for gene: NUBPL were set to
Prepair 1000+ v1.2023 NR0B1 Zornitza Stark Marked gene: NR0B1 as ready
Prepair 1000+ v1.2023 NR0B1 Zornitza Stark Gene: nr0b1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2023 NR0B1 Zornitza Stark Phenotypes for gene: NR0B1 were changed from 46XY sex reversal 2, dosage-sensitive, 300018 (3) to Adrenal hypoplasia, congenital, MIM#300200
Prepair 1000+ v1.2022 NR0B1 Zornitza Stark Publications for gene: NR0B1 were set to
Prepair 1000+ v1.2021 NDUFV2 Zornitza Stark Marked gene: NDUFV2 as ready
Prepair 1000+ v1.2021 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2021 NDUFV2 Zornitza Stark Phenotypes for gene: NDUFV2 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 7, MIM#618229, MONDO:0044970
Prepair 1000+ v1.2020 NDUFV2 Zornitza Stark Publications for gene: NDUFV2 were set to
Prepair 1000+ v1.2019 NDUFS4 Zornitza Stark Marked gene: NDUFS4 as ready
Prepair 1000+ v1.2019 NDUFS4 Zornitza Stark Gene: ndufs4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2019 NDUFS4 Zornitza Stark Phenotypes for gene: NDUFS4 were changed from Leigh syndrome, 256000 (3) to Mitochondrial complex I deficiency, nuclear type 1, MIM#252010
Prepair 1000+ v1.2018 NCF1 Lilian Downie Tag for review tag was added to gene: NCF1.
Prepair 1000+ v1.2018 NDP Zornitza Stark Marked gene: NDP as ready
Prepair 1000+ v1.2018 NDP Zornitza Stark Gene: ndp has been classified as Green List (High Evidence).
Prepair 1000+ v1.2018 NDP Zornitza Stark Phenotypes for gene: NDP were changed from Norrie disease, 310600 (3) to Norrie disease, MIM#310600
Prepair 1000+ v1.2017 NDP Zornitza Stark Publications for gene: NDP were set to
Prepair 1000+ v1.2016 NDE1 Zornitza Stark Marked gene: NDE1 as ready
Prepair 1000+ v1.2016 NDE1 Zornitza Stark Gene: nde1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2016 NDE1 Zornitza Stark Phenotypes for gene: NDE1 were changed from Lissencephaly 4 (with microcephaly), 614019 (3) to Lissencephaly 4 (with microcephaly), MIM#614019
Prepair 1000+ v1.2015 NDE1 Zornitza Stark Publications for gene: NDE1 were set to
Prepair 1000+ v1.2014 NCF2 Zornitza Stark Marked gene: NCF2 as ready
Prepair 1000+ v1.2014 NCF2 Zornitza Stark Gene: ncf2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2014 NCF2 Zornitza Stark Phenotypes for gene: NCF2 were changed from Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3) to Chronic granulomatous disease 2, autosomal recessive, MIM# 233710
Prepair 1000+ v1.2013 NCF2 Zornitza Stark Publications for gene: NCF2 were set to
Prepair 1000+ v1.2012 NAGA Zornitza Stark Marked gene: NAGA as ready
Prepair 1000+ v1.2012 NAGA Zornitza Stark Gene: naga has been classified as Green List (High Evidence).
Prepair 1000+ v1.2012 NAGA Zornitza Stark Phenotypes for gene: NAGA were changed from Schindler disease, type I, 609241 (3) to Schindler disease, type I MIM#609241; Schindler disease, type III MIM#609241
Prepair 1000+ v1.2011 NAGA Zornitza Stark Publications for gene: NAGA were set to
Prepair 1000+ v1.2010 PDE6B Lilian Downie Marked gene: PDE6B as ready
Prepair 1000+ v1.2010 PDE6B Lilian Downie Gene: pde6b has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2010 MYD88 Zornitza Stark Marked gene: MYD88 as ready
Prepair 1000+ v1.2010 MYD88 Zornitza Stark Gene: myd88 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2010 PDE6B Lilian Downie Publications for gene: PDE6B were set to
Prepair 1000+ v1.2009 MYD88 Zornitza Stark Phenotypes for gene: MYD88 were changed from Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3) to Immunodeficiency 68, MIM# 612260
Prepair 1000+ v1.2008 MYD88 Zornitza Stark Publications for gene: MYD88 were set to
Prepair 1000+ v1.2007 MUSK Zornitza Stark Marked gene: MUSK as ready
Prepair 1000+ v1.2007 MUSK Zornitza Stark Gene: musk has been classified as Green List (High Evidence).
Prepair 1000+ v1.2007 MUSK Zornitza Stark Phenotypes for gene: MUSK were changed from Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3) to Fetal akinesia deformation sequence 1 MIM#208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency MIM#616325
Prepair 1000+ v1.2006 MUSK Zornitza Stark Publications for gene: MUSK were set to
Prepair 1000+ v1.2005 GBA Lilian Downie Marked gene: GBA as ready
Prepair 1000+ v1.2005 GBA Lilian Downie Added comment: Comment when marking as ready: Consider upgrading to green as most common variant detectable and suitable disease for inclusion.
Prepair 1000+ v1.2005 GBA Lilian Downie Gene: gba has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2005 CHMP1A Lilian Downie Marked gene: CHMP1A as ready
Prepair 1000+ v1.2005 CHMP1A Lilian Downie Added comment: Comment when marking as ready: Inclusion, green on PanelApp and severe childhood disease
Prepair 1000+ v1.2005 CHMP1A Lilian Downie Gene: chmp1a has been removed from the panel.
Prepair 1000+ v1.2005 MTTP Zornitza Stark Marked gene: MTTP as ready
Prepair 1000+ v1.2005 MTTP Zornitza Stark Gene: mttp has been classified as Green List (High Evidence).
Prepair 1000+ v1.2005 MTTP Zornitza Stark Phenotypes for gene: MTTP were changed from Abetalipoproteinemia, 200100 (3) to Abetalipoproteinemia MIM#200100
Prepair 1000+ v1.2004 MTTP Zornitza Stark Publications for gene: MTTP were set to
Prepair 1000+ v1.2003 MTHFD1 Zornitza Stark Marked gene: MTHFD1 as ready
Prepair 1000+ v1.2003 MTHFD1 Zornitza Stark Gene: mthfd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2003 MTHFD1 Zornitza Stark Phenotypes for gene: MTHFD1 were changed from Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive to Combined immunodeficiency and megaloblastic anaemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive
Prepair 1000+ v1.2002 MTHFD1 Zornitza Stark Publications for gene: MTHFD1 were set to
Prepair 1000+ v1.2001 MSTO1 Zornitza Stark Marked gene: MSTO1 as ready
Prepair 1000+ v1.2001 MSTO1 Zornitza Stark Gene: msto1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2001 MSTO1 Zornitza Stark Publications for gene: MSTO1 were set to 30684668; 31463572
Prepair 1000+ v1.2000 MMP2 Zornitza Stark Marked gene: MMP2 as ready
Prepair 1000+ v1.2000 MMP2 Zornitza Stark Gene: mmp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2000 MMP2 Zornitza Stark Phenotypes for gene: MMP2 were changed from Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3) to Multicentric osteolysis, nodulosis, and arthropathy, MIM#259600
Prepair 1000+ v1.1999 MMP2 Zornitza Stark Publications for gene: MMP2 were set to
Prepair 1000+ v1.1998 MLC1 Zornitza Stark Marked gene: MLC1 as ready
Prepair 1000+ v1.1998 MLC1 Zornitza Stark Gene: mlc1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1998 MLC1 Zornitza Stark Phenotypes for gene: MLC1 were changed from Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3) to Megalencephalic leukoencephalopathy with subcortical cysts 1, MIM #604004
Prepair 1000+ v1.1997 MLC1 Zornitza Stark Publications for gene: MLC1 were set to
Prepair 1000+ v1.1996 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Prepair 1000+ v1.1996 MKS1 Zornitza Stark Gene: mks1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1996 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from Meckel syndrome 1, 249000 (3) to Bardet-Biedl syndrome 13 MIM#615990; Joubert syndrome 28 MIM#617121; Meckel syndrome 1 MIM#249000; Ciliopathy MONDO:0005308
Prepair 1000+ v1.1995 MKS1 Zornitza Stark Publications for gene: MKS1 were set to
Prepair 1000+ v1.1994 MICU1 Zornitza Stark Marked gene: MICU1 as ready
Prepair 1000+ v1.1994 MICU1 Zornitza Stark Gene: micu1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1994 MICU1 Zornitza Stark Phenotypes for gene: MICU1 were changed from Myopathy with extrapyramidal signs, 615673 (3) to Myopathy with extrapyramidal signs, MIM# 615673
Prepair 1000+ v1.1993 MICU1 Zornitza Stark Publications for gene: MICU1 were set to
Prepair 1000+ v1.1992 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Prepair 1000+ v1.1992 MFN2 Zornitza Stark Gene: mfn2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1992 MFN2 Zornitza Stark Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive to Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087; Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800
Prepair 1000+ v1.1991 MFN2 Zornitza Stark reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1991 MFN2 Zornitza Stark Publications for gene: MFN2 were set to
Prepair 1000+ v1.1990 METTL23 Zornitza Stark Marked gene: METTL23 as ready
Prepair 1000+ v1.1990 METTL23 Zornitza Stark Gene: mettl23 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1990 METTL23 Zornitza Stark Phenotypes for gene: METTL23 were changed from Mental retardation, autosomal recessive 44, 615942 (3) to Intellectual developmental disorder, autosomal recessive 44, MIM #615942
Prepair 1000+ v1.1989 METTL23 Zornitza Stark Publications for gene: METTL23 were set to
Prepair 1000+ v1.1988 MEGF10 Zornitza Stark Marked gene: MEGF10 as ready
Prepair 1000+ v1.1988 MEGF10 Zornitza Stark Gene: megf10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1988 MEGF10 Zornitza Stark Phenotypes for gene: MEGF10 were changed from Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3) to Congenital myopathy 10A, severe variant, MIM #614399; Congenital myopathy 10B, mild variant, MIM #620249
Prepair 1000+ v1.1987 MEGF10 Zornitza Stark Publications for gene: MEGF10 were set to
Prepair 1000+ v1.1986 MED12 Zornitza Stark Marked gene: MED12 as ready
Prepair 1000+ v1.1986 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1986 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from Lujan-Fryns syndrome, 309520 (3) to MED12-related intellectual disability syndrome, MONDO:0100000
Prepair 1000+ v1.1985 MED12 Zornitza Stark Publications for gene: MED12 were set to
Prepair 1000+ v1.1984 MBTPS2 Zornitza Stark Marked gene: MBTPS2 as ready
Prepair 1000+ v1.1984 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1984 MBTPS2 Zornitza Stark Phenotypes for gene: MBTPS2 were changed from IFAP syndrome with or without BRESHECK syndrome, 308205 (3) to IFAP syndrome with or without BRESHECK syndrome MIM#308205; Osteogenesis imperfecta, type XIX MIM#301014
Prepair 1000+ v1.1983 MBTPS2 Zornitza Stark Publications for gene: MBTPS2 were set to
Prepair 1000+ v1.1982 MAPKBP1 Zornitza Stark Marked gene: MAPKBP1 as ready
Prepair 1000+ v1.1982 MAPKBP1 Zornitza Stark Gene: mapkbp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1982 MAPKBP1 Zornitza Stark Phenotypes for gene: MAPKBP1 were changed from Nephronophthisis 20, 617271 (3), Autosomal recessive to Nephronophthisis 20, MIM# 617271; MONDO:0014997
Prepair 1000+ v1.1981 MAPKBP1 Zornitza Stark Publications for gene: MAPKBP1 were set to
Prepair 1000+ v1.1980 LYST Zornitza Stark Marked gene: LYST as ready
Prepair 1000+ v1.1980 LYST Zornitza Stark Gene: lyst has been classified as Green List (High Evidence).
Prepair 1000+ v1.1980 LYST Zornitza Stark Phenotypes for gene: LYST were changed from Chediak-Higashi syndrome, 214500 (3) to Chediak-Higashi syndrome MIM#214500
Prepair 1000+ v1.1979 LYST Zornitza Stark Publications for gene: LYST were set to
Prepair 1000+ v1.1978 LRMDA Zornitza Stark Marked gene: LRMDA as ready
Prepair 1000+ v1.1978 LRMDA Zornitza Stark Gene: lrmda has been classified as Green List (High Evidence).
Prepair 1000+ v1.1978 LRMDA Zornitza Stark Phenotypes for gene: LRMDA were changed from Albinism, oculocutaneous, type VII, 615179 (3) to Albinism, oculocutaneous, type VII MIM#615179; MONDO:0014070
Prepair 1000+ v1.1977 LRMDA Zornitza Stark Publications for gene: LRMDA were set to
Prepair 1000+ v1.1976 LRAT Zornitza Stark Marked gene: LRAT as ready
Prepair 1000+ v1.1976 LRAT Zornitza Stark Gene: lrat has been classified as Green List (High Evidence).
Prepair 1000+ v1.1976 LRAT Zornitza Stark Phenotypes for gene: LRAT were changed from Leber congenital amaurosis 14, 613341 (3) to Retinal dystrophy, early-onset severe; Leber congenital amaurosis 14; Retinitis pigmentosa, juvenile, all under MIM #613341
Prepair 1000+ v1.1975 LRAT Zornitza Stark Publications for gene: LRAT were set to
Prepair 1000+ v1.1974 LONP1 Zornitza Stark Marked gene: LONP1 as ready
Prepair 1000+ v1.1974 LONP1 Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1974 LONP1 Zornitza Stark Phenotypes for gene: LONP1 were changed from CODAS syndrome, 600373 (3) to CODAS syndrome, MIM#600373
Prepair 1000+ v1.1973 LONP1 Zornitza Stark Publications for gene: LONP1 were set to
Prepair 1000+ v1.1972 LMOD3 Zornitza Stark Marked gene: LMOD3 as ready
Prepair 1000+ v1.1972 LMOD3 Zornitza Stark Gene: lmod3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1972 LMOD3 Zornitza Stark Phenotypes for gene: LMOD3 were changed from Nemaline myopathy 10, 616165 (3) to Nemaline myopathy 10, MIM#616165
Prepair 1000+ v1.1971 LMOD3 Zornitza Stark Publications for gene: LMOD3 were set to
Prepair 1000+ v1.1970 LIPC Zornitza Stark Tag for review tag was added to gene: LIPC.
Prepair 1000+ v1.1970 LIPC Zornitza Stark reviewed gene: LIPC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hepatic lipase deficiency, MIM# 614025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1970 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Prepair 1000+ v1.1970 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1970 LARS2 Zornitza Stark Phenotypes for gene: LARS2 were changed from Perrault syndrome 4, 615300 (3) to Hydrops, lactic acidosis, and sideroblastic anaemia MIM#617021; Perrault syndrome 4 MIM#615300
Prepair 1000+ v1.1969 LARS2 Zornitza Stark Publications for gene: LARS2 were set to
Prepair 1000+ v1.1968 LAMB2 Zornitza Stark Marked gene: LAMB2 as ready
Prepair 1000+ v1.1968 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1968 LAMB2 Zornitza Stark Phenotypes for gene: LAMB2 were changed from Pierson syndrome, 609049 (3) to Pierson syndrome, MIM# 609049; Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199
Prepair 1000+ v1.1967 LAMB2 Zornitza Stark reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pierson syndrome, MIM# 609049, Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1967 SLC7A7 Lilian Downie Marked gene: SLC7A7 as ready
Prepair 1000+ v1.1967 SLC7A7 Lilian Downie Gene: slc7a7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1967 SLC7A7 Lilian Downie Publications for gene: SLC7A7 were set to
Prepair 1000+ v1.1966 STIM1 Lilian Downie Marked gene: STIM1 as ready
Prepair 1000+ v1.1966 STIM1 Lilian Downie Gene: stim1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1966 STIM1 Lilian Downie Publications for gene: STIM1 were set to
Prepair 1000+ v1.1965 TOE1 Lilian Downie Marked gene: TOE1 as ready
Prepair 1000+ v1.1965 TOE1 Lilian Downie Gene: toe1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1965 TOE1 Lilian Downie Phenotypes for gene: TOE1 were changed from Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive to Pontocerebellar hypoplasia, type 7 MIM#614969
Prepair 1000+ v1.1964 TOE1 Lilian Downie Publications for gene: TOE1 were set to
Prepair 1000+ v1.1963 TPP1 Lilian Downie Marked gene: TPP1 as ready
Prepair 1000+ v1.1963 TPP1 Lilian Downie Gene: tpp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1963 TPP1 Lilian Downie Phenotypes for gene: TPP1 were changed from Ceroid lipofuscinosis, neuronal, 2, 204500 (3) to Ceroid lipofuscinosis, neuronal, 2 MIM#204500; Spinocerebellar ataxia, autosomal recessive 7 MIM#609270
Prepair 1000+ v1.1962 TPP1 Lilian Downie Publications for gene: TPP1 were set to
Prepair 1000+ v1.1961 TRAPPC11 Lilian Downie Marked gene: TRAPPC11 as ready
Prepair 1000+ v1.1961 TRAPPC11 Lilian Downie Gene: trappc11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1961 TRAPPC11 Lilian Downie Publications for gene: TRAPPC11 were set to
Prepair 1000+ v1.1960 TRMT10A Lilian Downie Marked gene: TRMT10A as ready
Prepair 1000+ v1.1960 TRMT10A Lilian Downie Gene: trmt10a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1960 TRMT10A Lilian Downie Publications for gene: TRMT10A were set to
Prepair 1000+ v1.1959 UBE3B Lilian Downie Marked gene: UBE3B as ready
Prepair 1000+ v1.1959 UBE3B Lilian Downie Gene: ube3b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1959 UBE3B Lilian Downie Publications for gene: UBE3B were set to
Prepair 1000+ v1.1958 USH1G Lilian Downie Marked gene: USH1G as ready
Prepair 1000+ v1.1958 USH1G Lilian Downie Gene: ush1g has been classified as Green List (High Evidence).
Prepair 1000+ v1.1958 USH1G Lilian Downie Publications for gene: USH1G were set to
Prepair 1000+ v1.1957 VIPAS39 Lilian Downie Marked gene: VIPAS39 as ready
Prepair 1000+ v1.1957 VIPAS39 Lilian Downie Gene: vipas39 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1957 VIPAS39 Lilian Downie Publications for gene: VIPAS39 were set to
Prepair 1000+ v1.1956 VKORC1 Lilian Downie Marked gene: VKORC1 as ready
Prepair 1000+ v1.1956 VKORC1 Lilian Downie Added comment: Comment when marking as ready: Single homozygous missense variant, Arg98Trp reported to cause the AR phenotype (PMID: 12704386). (ClinGen 2023) This phenotype causes intracranial haemmorhage in the first weeks of life and ongoing bleeding predisposition but this is reversed with vit K administration so highly treatable.
Prepair 1000+ v1.1956 VKORC1 Lilian Downie Gene: vkorc1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1956 XRCC4 Lilian Downie Marked gene: XRCC4 as ready
Prepair 1000+ v1.1956 XRCC4 Lilian Downie Gene: xrcc4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1956 XRCC4 Lilian Downie Phenotypes for gene: XRCC4 were changed from Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive to Short stature, microcephaly, and endocrine dysfunction MIM#616541
Prepair 1000+ v1.1955 XRCC4 Lilian Downie Publications for gene: XRCC4 were set to
Prepair 1000+ v1.1954 XYLT2 Lilian Downie Marked gene: XYLT2 as ready
Prepair 1000+ v1.1954 XYLT2 Lilian Downie Gene: xylt2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1954 XYLT2 Lilian Downie Phenotypes for gene: XYLT2 were changed from Spondyloocular syndrome, 605822 (3), Autosomal recessive to Spondyloocular syndrome MIM#605822
Prepair 1000+ v1.1953 XYLT2 Lilian Downie Publications for gene: XYLT2 were set to
Prepair 1000+ v1.1952 KIF7 Zornitza Stark Marked gene: KIF7 as ready
Prepair 1000+ v1.1952 KIF7 Zornitza Stark Gene: kif7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1952 KIF7 Zornitza Stark Phenotypes for gene: KIF7 were changed from Hydrolethalus syndrome 2, 614120 (3) to Al-Gazali-Bakalinova syndrome MIM#607131; Hydrolethalus syndrome 2 MIM#614120; Acrocallosal syndrome MIM#200990; Joubert syndrome 12 MIM#200990
Prepair 1000+ v1.1951 KIF7 Zornitza Stark Publications for gene: KIF7 were set to
Prepair 1000+ v1.1950 KIAA1109 Zornitza Stark Marked gene: KIAA1109 as ready
Prepair 1000+ v1.1950 KIAA1109 Zornitza Stark Gene: kiaa1109 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1950 KIAA1109 Zornitza Stark Phenotypes for gene: KIAA1109 were changed from Alkuraya-Kucinskas syndrome, 617822 (3), Autosomal recessive to Alkuraya-Kucinskas syndrome MIM#617822
Prepair 1000+ v1.1949 KIAA1109 Zornitza Stark Publications for gene: KIAA1109 were set to
Prepair 1000+ v1.1948 KIAA1109 Zornitza Stark Tag new gene name tag was added to gene: KIAA1109.
Prepair 1000+ v1.1948 KCNV2 Zornitza Stark Marked gene: KCNV2 as ready
Prepair 1000+ v1.1948 KCNV2 Zornitza Stark Gene: kcnv2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1948 KCNV2 Zornitza Stark Phenotypes for gene: KCNV2 were changed from Retinal cone dystrophy 3B, 610356 (3) to Retinal cone dystrophy 3B MIM#610356
Prepair 1000+ v1.1947 KCNV2 Zornitza Stark Publications for gene: KCNV2 were set to
Prepair 1000+ v1.1946 ITK Zornitza Stark Marked gene: ITK as ready
Prepair 1000+ v1.1946 ITK Zornitza Stark Gene: itk has been classified as Green List (High Evidence).
Prepair 1000+ v1.1946 ITK Zornitza Stark Phenotypes for gene: ITK were changed from Lymphoproliferative syndrome 1, 613011 (3) to Lymphoproliferative syndrome 1 MIM# 613011
Prepair 1000+ v1.1945 ITK Zornitza Stark Publications for gene: ITK were set to
Prepair 1000+ v1.1944 ITK Zornitza Stark changed review comment from: Established gene-disease association characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, haemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinaemia. Autoimmune disorders, such as autoimmune haemolytic anemia or renal disease, may also occur.; to: Established gene-disease association characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, haemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinaemia. Autoimmune disorders, such as autoimmune haemolytic anaemia or renal disease, may also occur.
Prepair 1000+ v1.1944 ITK Zornitza Stark reviewed gene: ITK: Rating: GREEN; Mode of pathogenicity: None; Publications: 19425169, 22289921, 25061172, 26056787, 9311799, 10213685; Phenotypes: Lymphoproliferative syndrome 1 MIM# 613011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1944 INVS Zornitza Stark Marked gene: INVS as ready
Prepair 1000+ v1.1944 INVS Zornitza Stark Gene: invs has been classified as Green List (High Evidence).
Prepair 1000+ v1.1944 INVS Zornitza Stark Phenotypes for gene: INVS were changed from Nephronophthisis 2, infantile, 602088 (3) to Nephronophthisis 2, infantile, (MIM#602088)
Prepair 1000+ v1.1943 INVS Zornitza Stark reviewed gene: INVS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 2, infantile, (MIM#602088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1943 INPP5K Zornitza Stark Marked gene: INPP5K as ready
Prepair 1000+ v1.1943 INPP5K Zornitza Stark Gene: inpp5k has been classified as Green List (High Evidence).
Prepair 1000+ v1.1943 INPP5K Zornitza Stark Phenotypes for gene: INPP5K were changed from Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive to Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404
Prepair 1000+ v1.1942 INPP5K Zornitza Stark Publications for gene: INPP5K were set to
Prepair 1000+ v1.1941 INPP5K Zornitza Stark Tag founder tag was added to gene: INPP5K.
Prepair 1000+ v1.1941 IFT172 Zornitza Stark Marked gene: IFT172 as ready
Prepair 1000+ v1.1941 IFT172 Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1941 IFT172 Zornitza Stark Phenotypes for gene: IFT172 were changed from Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3) to Bardet-Biedl syndrome 20 MIM#619471; Retinitis pigmentosa 71 MIM#616394; Short-rib thoracic dysplasia 10 with or without polydactyly MIM#615630
Prepair 1000+ v1.1940 IFT172 Zornitza Stark Publications for gene: IFT172 were set to
Prepair 1000+ v1.1939 IDUA Zornitza Stark Marked gene: IDUA as ready
Prepair 1000+ v1.1939 IDUA Zornitza Stark Gene: idua has been classified as Green List (High Evidence).
Prepair 1000+ v1.1939 IDUA Zornitza Stark Phenotypes for gene: IDUA were changed from Mucopolysaccharidosis Ih, 607014 (3) to Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014
Prepair 1000+ v1.1938 IDUA Zornitza Stark reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1938 IBA57 Zornitza Stark Marked gene: IBA57 as ready
Prepair 1000+ v1.1938 IBA57 Zornitza Stark Gene: iba57 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1938 IBA57 Zornitza Stark Phenotypes for gene: IBA57 were changed from Multiple mitochondrial dysfunctions syndrome 3, 615330 (3), Autosomal recessive to Multiple mitochondrial dysfunctions syndrome 3 MIM#615330
Prepair 1000+ v1.1937 IBA57 Zornitza Stark Publications for gene: IBA57 were set to
Prepair 1000+ v1.1936 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Prepair 1000+ v1.1936 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1936 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from Hydrolethalus syndrome, 236680 (3) to Hydrolethalus syndrome (MIM#236680)
Prepair 1000+ v1.1935 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to
Prepair 1000+ v1.1934 HSPD1 Zornitza Stark Marked gene: HSPD1 as ready
Prepair 1000+ v1.1934 HSPD1 Zornitza Stark Gene: hspd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1934 HSPD1 Zornitza Stark Phenotypes for gene: HSPD1 were changed from Leukodystrophy, hypomyelinating, 4, 612233 (3) to Leukodystrophy, hypomyelinating, 4 MIM#612233
Prepair 1000+ v1.1933 HSPD1 Zornitza Stark Publications for gene: HSPD1 were set to
Prepair 1000+ v1.1932 HSD3B7 Zornitza Stark edited their review of gene: HSD3B7: Changed publications: 27604308
Prepair 1000+ v1.1932 HSD3B7 Zornitza Stark Marked gene: HSD3B7 as ready
Prepair 1000+ v1.1932 HSD3B7 Zornitza Stark Gene: hsd3b7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1932 HSD3B7 Zornitza Stark Publications for gene: HSD3B7 were set to
Prepair 1000+ v1.1931 HSD3B7 Zornitza Stark Phenotypes for gene: HSD3B7 were changed from Bile acid synthesis defect, congenital, 1, 607765 (3) to Bile acid synthesis defect, congenital, 1 MIM#607765
Prepair 1000+ v1.1930 HSD3B7 Zornitza Stark reviewed gene: HSD3B7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bile acid synthesis defect, congenital, 1 MIM#607765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1930 HPS3 Zornitza Stark Marked gene: HPS3 as ready
Prepair 1000+ v1.1930 HPS3 Zornitza Stark Gene: hps3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1930 HPS3 Zornitza Stark Phenotypes for gene: HPS3 were changed from Hermansky-Pudlak syndrome 3, 614072 (3) to Hermansky-Pudlak syndrome 3 MIM#614072
Prepair 1000+ v1.1929 HPS3 Zornitza Stark Publications for gene: HPS3 were set to
Prepair 1000+ v1.1928 HAMP Zornitza Stark Marked gene: HAMP as ready
Prepair 1000+ v1.1928 HAMP Zornitza Stark Gene: hamp has been classified as Green List (High Evidence).
Prepair 1000+ v1.1928 HAMP Zornitza Stark Phenotypes for gene: HAMP were changed from Hemochromatosis, type 2B, 613313 (3) to Haemochromatosis, type 2B MIM#613313
Prepair 1000+ v1.1927 HAMP Zornitza Stark Publications for gene: HAMP were set to
Prepair 1000+ v1.1926 HADH Zornitza Stark Marked gene: HADH as ready
Prepair 1000+ v1.1926 HADH Zornitza Stark Gene: hadh has been classified as Green List (High Evidence).
Prepair 1000+ v1.1926 HADH Zornitza Stark Phenotypes for gene: HADH were changed from 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3) to 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530
Prepair 1000+ v1.1925 HADH Zornitza Stark Publications for gene: HADH were set to
Prepair 1000+ v1.1924 GM2A Zornitza Stark Marked gene: GM2A as ready
Prepair 1000+ v1.1924 GM2A Zornitza Stark Gene: gm2a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1924 GM2A Zornitza Stark Phenotypes for gene: GM2A were changed from GM2-gangliosidosis, AB variant, 272750 (3) to GM2-gangliosidosis, AB variant MIM #272750
Prepair 1000+ v1.1923 GM2A Zornitza Stark Publications for gene: GM2A were set to
Prepair 1000+ v1.1922 GLDN Zornitza Stark Marked gene: GLDN as ready
Prepair 1000+ v1.1922 GLDN Zornitza Stark Gene: gldn has been classified as Green List (High Evidence).
Prepair 1000+ v1.1922 GLDN Zornitza Stark Phenotypes for gene: GLDN were changed from Lethal congenital contracture syndrome 11, 617194 (3), Autosomal recessive to Lethal congenital contracture syndrome 11 MIM#617194
Prepair 1000+ v1.1921 GLDN Zornitza Stark Publications for gene: GLDN were set to
Prepair 1000+ v1.1920 FYCO1 Zornitza Stark Marked gene: FYCO1 as ready
Prepair 1000+ v1.1920 FYCO1 Zornitza Stark Gene: fyco1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1920 FYCO1 Zornitza Stark Phenotypes for gene: FYCO1 were changed from Cataract 18, autosomal recessive, 610019 (3) to Cataract 18, MIM#610019
Prepair 1000+ v1.1919 FYCO1 Zornitza Stark reviewed gene: FYCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 18, MIM#610019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1919 FTSJ1 Zornitza Stark Marked gene: FTSJ1 as ready
Prepair 1000+ v1.1919 FTSJ1 Zornitza Stark Gene: ftsj1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1919 FTSJ1 Zornitza Stark Phenotypes for gene: FTSJ1 were changed from Mental retardation, X-linked 9, 309549 (3) to Intellectual developmental disorder, X-linked 9 MIM#309549
Prepair 1000+ v1.1918 FTSJ1 Zornitza Stark Publications for gene: FTSJ1 were set to
Prepair 1000+ v1.1917 FRAS1 Zornitza Stark Marked gene: FRAS1 as ready
Prepair 1000+ v1.1917 FRAS1 Zornitza Stark Gene: fras1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1917 FRAS1 Zornitza Stark Phenotypes for gene: FRAS1 were changed from Fraser syndrome, 219000 (3) to Fraser syndrome 1 MIM#219000
Prepair 1000+ v1.1916 FRAS1 Zornitza Stark Publications for gene: FRAS1 were set to
Prepair 1000+ v1.1915 FLAD1 Zornitza Stark Marked gene: FLAD1 as ready
Prepair 1000+ v1.1915 FLAD1 Zornitza Stark Gene: flad1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1915 FLAD1 Zornitza Stark Phenotypes for gene: FLAD1 were changed from Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 (3), Autosomal recessive to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100
Prepair 1000+ v1.1914 FLAD1 Zornitza Stark Publications for gene: FLAD1 were set to
Prepair 1000+ v1.1913 FLAD1 Zornitza Stark reviewed gene: FLAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34454814, 34718578, 31392824, 30982706, 30311138, 30427553, 28433476, 27259049, 25058219; Phenotypes: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1913 FKBP14 Zornitza Stark Marked gene: FKBP14 as ready
Prepair 1000+ v1.1913 FKBP14 Zornitza Stark Gene: fkbp14 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1913 FKBP14 Zornitza Stark Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 (3) to Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MIM#614557
Prepair 1000+ v1.1912 FKBP14 Zornitza Stark Publications for gene: FKBP14 were set to
Prepair 1000+ v1.1911 FHL1 Zornitza Stark Marked gene: FHL1 as ready
Prepair 1000+ v1.1911 FHL1 Zornitza Stark Gene: fhl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1911 FHL1 Zornitza Stark Phenotypes for gene: FHL1 were changed from Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3) to Reducing body myopathy MONDO:0019948; X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680
Prepair 1000+ v1.1910 FHL1 Zornitza Stark Publications for gene: FHL1 were set to
Prepair 1000+ v1.1909 FHL1 Zornitza Stark Mode of inheritance for gene: FHL1 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)
Prepair 1000+ v1.1908 FGD4 Zornitza Stark Marked gene: FGD4 as ready
Prepair 1000+ v1.1908 FGD4 Zornitza Stark Gene: fgd4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1908 FGD4 Zornitza Stark Phenotypes for gene: FGD4 were changed from Charcot-Marie-Tooth disease, type 4H, 609311 (3) to Charcot-Marie-Tooth disease, type 4H MIM#609311; Charcot-Marie-Tooth disease MONDO:0015626
Prepair 1000+ v1.1907 FGD4 Zornitza Stark Publications for gene: FGD4 were set to
Prepair 1000+ v1.1906 FANCL Zornitza Stark Marked gene: FANCL as ready
Prepair 1000+ v1.1906 FANCL Zornitza Stark Gene: fancl has been classified as Green List (High Evidence).
Prepair 1000+ v1.1906 FANCL Zornitza Stark Phenotypes for gene: FANCL were changed from Fanconi anemia, complementation group L, 614083 (3) to Fanconi anaemia, complementation group L MIM#614083
Prepair 1000+ v1.1905 FANCL Zornitza Stark Publications for gene: FANCL were set to
Prepair 1000+ v1.1904 FANCD2 Zornitza Stark Marked gene: FANCD2 as ready
Prepair 1000+ v1.1904 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1904 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from Fanconi anemia, complementation group D2, 227646 (3) to Fanconi anaemia, complementation group D2 MIM#227646
Prepair 1000+ v1.1903 FANCD2 Zornitza Stark Publications for gene: FANCD2 were set to
Prepair 1000+ v1.1902 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Prepair 1000+ v1.1902 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1902 ERCC4 Zornitza Stark Phenotypes for gene: ERCC4 were changed from Fanconi anemia, complementation group Q, 615272 (3) to Fanconi anemia, complementation group Q, MIM# 615272 MONDO:0014108; Xeroderma pigmentosum, group F, MIM# 278760 MONDO:0010215; XFE progeroid syndrome, MIM# 610965 MONDO:0012590
Prepair 1000+ v1.1901 ERCC4 Zornitza Stark reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group Q, MIM# 615272 MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760 MONDO:0010215, XFE progeroid syndrome, MIM# 610965 MONDO:0012590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1901 DOLK Zornitza Stark Marked gene: DOLK as ready
Prepair 1000+ v1.1901 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Prepair 1000+ v1.1901 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation, type Im, 610768 (3) to Congenital disorder of glycosylation, type Im, MIM# 610768
Prepair 1000+ v1.1900 DOLK Zornitza Stark Publications for gene: DOLK were set to
Prepair 1000+ v1.1899 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1899 COL11A2 Zornitza Stark Marked gene: COL11A2 as ready
Prepair 1000+ v1.1899 COL11A2 Zornitza Stark Added comment: Comment when marking as ready: Deafness currently out of scope for this panel.
Prepair 1000+ v1.1899 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1899 COL11A2 Zornitza Stark Phenotypes for gene: COL11A2 were changed from Fibrochondrogenesis 2, 614524 (3) to Fibrochondrogenesis 2 MIM#614524
Prepair 1000+ v1.1898 COL11A2 Zornitza Stark Publications for gene: COL11A2 were set to
Prepair 1000+ v1.1897 AGK Zornitza Stark Marked gene: AGK as ready
Prepair 1000+ v1.1897 AGK Zornitza Stark Gene: agk has been classified as Green List (High Evidence).
Prepair 1000+ v1.1897 AGK Zornitza Stark Phenotypes for gene: AGK were changed from Sengers syndrome, 212350 (3) to Sengers syndrome, MIM#212350
Prepair 1000+ v1.1896 AGK Zornitza Stark reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sengers syndrome, MIM#212350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1896 SLC37A4 Lilian Downie Marked gene: SLC37A4 as ready
Prepair 1000+ v1.1896 SLC37A4 Lilian Downie Gene: slc37a4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1896 SLC37A4 Lilian Downie Phenotypes for gene: SLC37A4 were changed from Glycogen storage disease Ib, 232220 (3) to Glycogen storage disease Ib MIM#232220; Glycogen storage disease Ic MIM#232240; Glycogen Storage Disease I MONDO:0002413
Prepair 1000+ v1.1895 SP110 Lilian Downie Marked gene: SP110 as ready
Prepair 1000+ v1.1895 SP110 Lilian Downie Gene: sp110 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1895 SP110 Lilian Downie Publications for gene: SP110 were set to
Prepair 1000+ v1.1894 SPR Lilian Downie Marked gene: SPR as ready
Prepair 1000+ v1.1894 SPR Lilian Downie Gene: spr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1894 SPR Lilian Downie Phenotypes for gene: SPR were changed from Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3) to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency MIM#612716
Prepair 1000+ v1.1893 SPR Lilian Downie Publications for gene: SPR were set to
Prepair 1000+ v1.1892 STRA6 Lilian Downie Marked gene: STRA6 as ready
Prepair 1000+ v1.1892 STRA6 Lilian Downie Gene: stra6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1892 STRA6 Lilian Downie Phenotypes for gene: STRA6 were changed from Microphthalmia MIM#601186 to Microphthalmia, isolated, with coloboma 8 MIM#601186; Microphthalmia, syndromic 9 MIM#601186
Prepair 1000+ v1.1891 STRA6 Lilian Downie Phenotypes for gene: STRA6 were changed from Microphthalmia, isolated, with coloboma 8, 601186 (3) to Microphthalmia MIM#601186
Prepair 1000+ v1.1890 STRA6 Lilian Downie Publications for gene: STRA6 were set to
Prepair 1000+ v1.1889 TRIM32 Lilian Downie Marked gene: TRIM32 as ready
Prepair 1000+ v1.1889 TRIM32 Lilian Downie Gene: trim32 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1889 TRIM32 Lilian Downie Phenotypes for gene: TRIM32 were changed from Muscular dystrophy, limb-girdle, type 2H, 254110 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110
Prepair 1000+ v1.1888 TRIM32 Lilian Downie Publications for gene: TRIM32 were set to
Prepair 1000+ v1.1887 TRPM6 Lilian Downie Marked gene: TRPM6 as ready
Prepair 1000+ v1.1887 TRPM6 Lilian Downie Gene: trpm6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1887 TRPM6 Lilian Downie Publications for gene: TRPM6 were set to
Prepair 1000+ v1.1886 TTI2 Lilian Downie Marked gene: TTI2 as ready
Prepair 1000+ v1.1886 TTI2 Lilian Downie Gene: tti2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1886 TTI2 Lilian Downie Phenotypes for gene: TTI2 were changed from Mental retardation, autosomal recessive 39, 615541 (3) to Intellectual developmental disorder, autosomal recessive 39 MIM#615541
Prepair 1000+ v1.1885 TTI2 Lilian Downie Publications for gene: TTI2 were set to
Prepair 1000+ v1.1884 TTPA Lilian Downie Marked gene: TTPA as ready
Prepair 1000+ v1.1884 TTPA Lilian Downie Gene: ttpa has been classified as Green List (High Evidence).
Prepair 1000+ v1.1884 TTPA Lilian Downie Publications for gene: TTPA were set to
Prepair 1000+ v1.1883 VARS Lilian Downie Marked gene: VARS as ready
Prepair 1000+ v1.1883 VARS Lilian Downie Gene: vars has been classified as Green List (High Evidence).
Prepair 1000+ v1.1883 VARS Lilian Downie Phenotypes for gene: VARS were changed from Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3), Autosomal recessive to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy MIM#617802
Prepair 1000+ v1.1882 VARS Lilian Downie Publications for gene: VARS were set to
Prepair 1000+ v1.1881 WNT10B Lilian Downie Marked gene: WNT10B as ready
Prepair 1000+ v1.1881 WNT10B Lilian Downie Gene: wnt10b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1881 WNT10B Lilian Downie Publications for gene: WNT10B were set to
Prepair 1000+ v1.1880 CSPP1 Lilian Downie Marked gene: CSPP1 as ready
Prepair 1000+ v1.1880 CSPP1 Lilian Downie Gene: cspp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1880 CSPP1 Lilian Downie Phenotypes for gene: CSPP1 were changed from Joubert syndrome 21, 615636 (3) to Joubert syndrome 21 MIM#615636; MONDO:0014288
Prepair 1000+ v1.1879 CSPP1 Lilian Downie Publications for gene: CSPP1 were set to
Prepair 1000+ v1.1878 DNAH5 Lilian Downie Marked gene: DNAH5 as ready
Prepair 1000+ v1.1878 DNAH5 Lilian Downie Gene: dnah5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1878 DNAH5 Lilian Downie Publications for gene: DNAH5 were set to
Prepair 1000+ v1.1877 PEX5 Lilian Downie Marked gene: PEX5 as ready
Prepair 1000+ v1.1877 PEX5 Lilian Downie Gene: pex5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1877 PEX5 Lilian Downie Phenotypes for gene: PEX5 were changed from Peroxisome biogenesis disorder 2A (Zellweger), 214110 to Peroxisome Biogenesis Disorder, MONDO:0019234
Prepair 1000+ v1.1876 PEX5 Lilian Downie Publications for gene: PEX5 were set to 21031596; 7719337; 26220973; 20301621
Prepair 1000+ v1.1875 PEX5 Lilian Downie Publications for gene: PEX5 were set to
Prepair 1000+ v1.1874 PIGN Lilian Downie Marked gene: PIGN as ready
Prepair 1000+ v1.1874 PIGN Lilian Downie Gene: pign has been classified as Green List (High Evidence).
Prepair 1000+ v1.1874 PIGN Lilian Downie Publications for gene: PIGN were set to
Prepair 1000+ v1.1873 PLAA Lilian Downie Marked gene: PLAA as ready
Prepair 1000+ v1.1873 PLAA Lilian Downie Gene: plaa has been classified as Green List (High Evidence).
Prepair 1000+ v1.1873 PLAA Lilian Downie Phenotypes for gene: PLAA were changed from Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3), Autosomal recessive to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies,MIM#617527
Prepair 1000+ v1.1872 PLAA Lilian Downie Publications for gene: PLAA were set to
Prepair 1000+ v1.1871 PLCE1 Lilian Downie Marked gene: PLCE1 as ready
Prepair 1000+ v1.1871 PLCE1 Lilian Downie Gene: plce1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1871 PLCE1 Lilian Downie Publications for gene: PLCE1 were set to
Prepair 1000+ v1.1870 POLR3B Lilian Downie Marked gene: POLR3B as ready
Prepair 1000+ v1.1870 POLR3B Lilian Downie Gene: polr3b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1870 POLR3B Lilian Downie Mode of pathogenicity for gene: POLR3B was changed from to None
Prepair 1000+ v1.1869 POLR3B Lilian Downie Publications for gene: POLR3B were set to
Prepair 1000+ v1.1868 POLR3B Karina Sandoval reviewed gene: POLR3B: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 27512013, 23355746, 22036171, 22036172, 25339210, 33005949, 22855961, 33417887; Phenotypes: Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism,MIM#614381; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PLCE1 Karina Sandoval reviewed gene: PLCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17086182, 18065803, 20591883; Phenotypes: Nephrotic syndrome, type 3,MIM#610725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PLAA Karina Sandoval reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 28007986, 28413018, 31322726; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies,MIM#617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PIGN Karina Sandoval reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21493957, 24253414, 26364997, 26394714, 33193741, 32585529, 33528536, 38693247, 36322149; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1,MIM#614080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PEX5 Karina Sandoval reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 21031596, 7719337, 26220973, 20301621; Phenotypes: Peroxisome Biogenesis Disorder, MONDO:0019234; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 DNAH5 Andrew Coventry reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 16627867, 11788826, 40033371; Phenotypes: Ciliary dyskinesia, primary, 3, with or without situs inversus MIM#608644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 CSPP1 Andrew Coventry reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21 MIM#615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 WNT10B Andrew Coventry reviewed gene: WNT10B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20635353, 16688749, 29427788, 24211389, 38058757, 39310870; Phenotypes: Split-hand/foot malformation 6 MIM#225300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 VARS Andrew Coventry reviewed gene: VARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30755616, 30755602, 26539891, 29691655, 30275004, 30755616; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy MIM#617802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 TTPA Andrew Coventry reviewed gene: TTPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 7719340; Phenotypes: Ataxia with isolated vitamin E deficiency MIM#277460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 TTI2 Andrew Coventry reviewed gene: TTI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32061250, 23956177, 31737043; Phenotypes: Intellectual developmental disorder, autosomal recessive 39 MIM#615541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 TRPM6 Andrew Coventry reviewed gene: TRPM6: Rating: GREEN; Mode of pathogenicity: None; Publications: 35903165, 18818955; Phenotypes: Hypomagnesemia 1, intestinal MIM#602014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 TRIM32 Andrew Coventry reviewed gene: TRIM32: Rating: GREEN; Mode of pathogenicity: None; Publications: 9634523, 10399877, 17994549, 25351777, 19492423, 19303295, 31309175; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 STRA6 Andrew Coventry reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273977, 17503335, 19213032, 26373900, 30880327, 26373900, 25457163; Phenotypes: Microphthalmia, isolated, with coloboma 8 MIM#601186, Microphthalmia, syndromic 9 MIM#601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 SPR Andrew Coventry reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522443, 26131547, 33903016, 31777525, 16650784, 21431957, 28189489; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency MIM#612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 SP110 Andrew Coventry reviewed gene: SP110: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301448, 16648851, 23448538, 22621957, 32395362; Phenotypes: Hepatic venoocclusive disease with immunodeficiency MIM#235550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 SLC37A4 Andrew Coventry reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33964207, 9675154, 9758626; Phenotypes: Glycogen storage disease Ib MIM#232220, Glycogen storage disease Ic MIM#232240, Glycogen Storage Disease I MONDO:0002413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 SLC12A5 Andrew Coventry reviewed gene: SLC12A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26333769, 27436767, 24928908, 30763027, 24668262; Phenotypes: Developmental and epileptic encephalopathy 34 MIM#616645; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 SEC23B Andrew Coventry reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19561605, 19621418, 26522472, 27471141, 37373084; Phenotypes: Dyserythropoietic anemia, congenital, type II MIM#224100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 RNASET2 Andrew Coventry reviewed gene: RNASET2: Rating: GREEN; 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
Prepair 1000+ v1.1868 RNASEH2A Andrew Coventry reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 15870678, 25604658, 23592335, 20301648, 29239743, 16845400, 24183309, 35551623; Phenotypes: Aicardi-Goutieres syndrome 4 MIM#610333, RNASEH2A-related type 1 interferonopathy MONDO:0700259; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 RARB Andrew Coventry reviewed gene: RARB: Rating: AMBER; Mode of pathogenicity: None; Publications: 30880327, 30281527, 24075189, 27120018, 25457163, 17506106; Phenotypes: Microphthalmia, syndromic 12 MIM#615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 RAB23 Andrew Coventry reviewed gene: RAB23: Rating: GREEN; Mode of pathogenicity: None; Publications: 17503333, 21412941, 23599695, 25168863; Phenotypes: Carpenter syndrome MIM#201000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PUS7 Andrew Coventry reviewed gene: PUS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30526862, 30778726, 31583274, 35144859; Phenotypes: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature MIM#618342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PPIB Andrew Coventry reviewed gene: PPIB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19781681, 32392875; Phenotypes: Osteogenesis imperfecta, type IX MIM#259440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 OPA1 Cassandra Muller reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25012220; Phenotypes: Behr syndrome, 210000 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PDP1 Karina Sandoval reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15855260, 31392110, 19184109; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency,MIM#608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 NUBPL Cassandra Muller changed review comment from: Well established gene-disease association. Severe, mitochondrial condition with variable severity and progression.; to: Well established gene-disease association. Severe, multi system, mitochondrial condition with variable severity and progression.
Prepair 1000+ v1.1868 NUBPL Cassandra Muller changed review comment from: Well established gene-disease association. Severe, mitochondrial condition with variable severity and progression. Onset in infancy or childhood.; to: Well established gene-disease association. Severe, mitochondrial condition with variable severity and progression.
Prepair 1000+ v1.1868 NUBPL Cassandra Muller reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20818383, 32518176, 23553477, 31917109, 32518176, 31787496, 30897263, 22826544; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21, 618242 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 NR2E3 Cassandra Muller Deleted their review
Prepair 1000+ v1.1868 NR2E3 Cassandra Muller reviewed gene: NR2E3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PCSK1 Karina Sandoval reviewed gene: PCSK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14617756, 17595246, 27187081, 27288825, 23562752; Phenotypes: Endocrinopathy due to proprotein convertase 1/3 deficiency,MIM#600955; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 NDUFS4 Cassandra Muller reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1, 252010 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PCSK1 Karina Sandoval Deleted their review
Prepair 1000+ v1.1868 PCSK1 Karina Sandoval changed review comment from: Unsure if severe enough to include in panel.

MM- Tricky - Hyperphagia & obesity but associated metabolic problems can be severe includeing cases of death in childhood.

PMID:27187081 - some patients displayed morbid obesity and severe hyperphagia, other subjects were only moderately obese. BMI rises from 2 years and patients became obese from early childhood. However, the extreme obesity of the index case at 3 years of age has not been reported in any subsequent patients. Presentation is severe malabsorptive diarrhea, becoming clinically evident within the first 3 months of life. This can be so severe as to lead to a metabolic acidosis. After the age of 2 years, the severity of the malabsorption appears to spontaneously improve, and many children can discontinue
parenteral feeding.

PMID: 27288825 - Nutrition significantly diminshed beyond 2 years and patients can thrive despite the presence of persistent diarrhea that is lifelong and malabsorption throughout life, and early in life will require intravenous support
that may be tapered off as the child ages.; to: Unsure if severe enough to include in panel.

MM- Tricky - Hyperphagia & obesity but associated metabolic problems can be severe includeing cases of death in childhood.

PMID:27187081 - some patients displayed morbid obesity and severe hyperphagia, other subjects were only moderately obese. BMI rises from 2 years and patients became obese from early childhood. However, the extreme obesity of the index case at 3 years of age has not been reported in any subsequent patients. Presentation is severe malabsorptive diarrhea, becoming clinically evident within the first 3 months of life. This can be so severe as to lead to a metabolic acidosis. After the age of 2 years, the severity of the malabsorption appears to spontaneously improve, and many children can discontinue
parenteral feeding.

PMID: 27288825 - Nutrition significantly diminshed beyond 2 years and patients can thrive despite the presence of persistent diarrhea that is lifelong and malabsorption throughout life, and early in life will require intravenous support
that may be tapered off as the child ages.
Prepair 1000+ v1.1868 NDE1 Cassandra Muller reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30637988, 21529751, 34562061; Phenotypes: Lissencephaly 4 (with microcephaly), 614019 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 MMP2 Cassandra Muller reviewed gene: MMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11431697, 15691365, 17059372, 17400654; Phenotypes: Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PCSK1 Karina Sandoval reviewed gene: PCSK1: Rating: AMBER; Mode of pathogenicity: None; Publications: 14617756, 17595246, 27187081, 27288825; Phenotypes: Endocrinopathy due to proprotein convertase 1/3 deficiency,MIM#600955; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PAH Karina Sandoval reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 3008810, 31636599, 32141105; Phenotypes: Phenylketonuria,MIM#261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 OTUD6B Karina Sandoval reviewed gene: OTUD6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28343629, 32924626, 31147255; Phenotypes: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies,MIM#617452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 OPN1LW Karina Sandoval reviewed gene: OPN1LW: Rating: RED; Mode of pathogenicity: None; Publications: 25168334, 32860923, 8213841; Phenotypes: Blue cone monochromacy,MIM#303700, Colorblindness, protan,MIM#303900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1868 MED12 Melanie Marty reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33244166, 32174975, 30006928, 27312080; Phenotypes: MED12-related intellectual disability syndrome, MONDO:0100000; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1868 HYLS1 Melanie Marty reviewed gene: HYLS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774, 39626953, 26830932; Phenotypes: Hydrolethalus syndrome (MIM#236680), Ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 FHL1 Melanie Marty changed review comment from: The FHL1 gene is associated with a diverse spectrum of X-linked diseases affecting skeletal and cardiac muscle (PMID: 21310615, 40017287).

Well-established gene-disease association. FHL1 encodes 3 alternatively spliced isoforms - FHL1A, FHL1B, FHL1C composed of different LIM domains. FHL1A is predominant in muscle. Pathogenic variants affected isoform expression differently depending on location in alternatively spliced exons. Location of the variant appears to be related to severity of phenotype. Loss of function is the mechanism of disease.

Reducing body myopathy (RBM) PMID: 18179901, 19716112, 18274675, 19181672, 25274776, 34366191 - XLD inheritance with clinical spectrum that includes severe early-onset to later-onset less progressive conditions including X-linked scapuloperoneal muscular dystrophy & X-linked myopathy with postural muscle atrophy. Pathogenic variants mainly located in more proximal exons (3-6). Fhl1 W122S knock-in mouse model has late-onset mild myopathy.

XL-EDMD PMID: 19716112, 20186852, 20301609 - at least 7 families reported with XLD inheritance (female heterozygous carriers were asymptomatic or had mild myopathy and/or cardiomyopathy). EDMD-associated variants are localized in the distal exons (5-8) and associated with reduced function.; to: The FHL1 gene is associated with a diverse spectrum of X-linked diseases affecting skeletal and cardiac muscle (PMID: 21310615, 40017287).

Well-established gene-disease association. FHL1 encodes 3 alternatively spliced isoforms - FHL1A, FHL1B, FHL1C composed of different LIM domains. FHL1A is predominant in muscle. Pathogenic variants affected isoform expression differently depending on location in alternatively spliced exons. Location of the variant appears to be related to severity of phenotype. Loss of function is the mechanism of disease.

Reducing body myopathy (RBM) PMID: 18179901, 19716112, 18274675, 19181672, 25274776, 34366191 - XLD inheritance with clinical spectrum that includes severe early-onset to later-onset less progressive conditions including X-linked scapuloperoneal muscular dystrophy & X-linked myopathy with postural muscle atrophy. Pathogenic variants mainly located in more proximal exons (3-6). Fhl1 W122S knock-in mouse model has late-onset mild myopathy. Female carriers may experience mild proximal muscle weakness or be asymptomatic.

XL-EDMD PMID: 19716112, 20186852, 20301609 - at least 7 families reported with XLD inheritance (female heterozygous carriers were asymptomatic or had mild myopathy and/or cardiomyopathy). EDMD-associated variants are localized in the distal exons (5-8) and associated with reduced function.
Prepair 1000+ v1.1868 FHL1 Melanie Marty reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19716112, 20186852, 20301609, 18179901, 25274776, 34366191, 18274675, 19181672, 21310615, 40017287; Phenotypes: Reducing body myopathy MONDO:0019948, X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1868 MFN2 Melanie Marty reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15064763, 15549395, 16437557, 20008656; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087, Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PDE6B Melanie Marty reviewed gene: PDE6B: Rating: RED; Mode of pathogenicity: None; Publications: 8394174, 8075643, 17044014, 7599633, 18854872, 33673512; Phenotypes: Retinitis pigmentosa-40, MIM#613801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 SCN9A Melanie Marty reviewed gene: SCN9A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18060017; Phenotypes: Insensitivity to pain, congenital, MIM# 243000, Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PNPLA6 Andrew Coventry reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 38735647, 25480986, 33818269, 32758583, 30097146; Phenotypes: Boucher-Neuhauser syndrome MIM#215470, Oliver-McFarlane syndrome MIM#275400, Spastic paraplegia 39, autosomal recessive MIM#612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PAK3 Andrew Coventry reviewed gene: PAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9731525, 10946356, 12884430, 17853471, 18523455, 24556213, 25666757, 27753653, 28481730, 28126652; Phenotypes: Intellectual developmental disorder, X-linked 30 MIM#300558; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1868 NAGA Andrew Coventry reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11313741, 31468281, 15619430, 8782044; Phenotypes: Schindler disease, type I MIM#609241, Schindler disease, type III MIM#609241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 SEC23A Melanie Marty changed review comment from: SEC23A is an essential component of coat protein complex II (COPII)-coated vesicles that transport secretory proteins from the endoplasmic reticulum (ER) to the Golgi complex.

Boyadjiev et al 2006 (PMID:16980979): One family was reported with a homozygous missense variant and craniolenticulosutural dysplasia (CLSD), with some functional studies supporting pathogenicity.

Boyadjiev et al 2011 (PMID: 21039434): The same authors as above later reported another individual with similar phenotype with a paternally inherited heterozygous missense variant, this variant has 91 hets in gnomAD and the father was unaffected. They suggest digenic inheritance but found no other variants in 3 candidate genes.

Wang et al 2023 (PMID: 37828500): 2 x compound heterozygous missense variants were identified in a patient with CLSD.

Cisarova et al 2022 (PMID: 34580982) 1 x patient with het missense variant inherited from his affected father. Shown to be de novo in the father.

Minale et al 2024 (PMID: 38275611): 1 x patient with de novo het missense variant

Zebrafish models lend some support to the gene-disease association (PMID:16980979, 16980978)

Summary: 2 reports of AR inheritance, 2 reports of AD inheritance, 1 uncertain; to: SEC23A is an essential component of coat protein complex II (COPII)-coated vesicles that transport secretory proteins from the endoplasmic reticulum (ER) to the Golgi complex.

Boyadjiev et al 2006 (PMID:16980979): One family was reported with a homozygous missense variant and craniolenticulosutural dysplasia (CLSD), with some functional studies supporting pathogenicity.

Boyadjiev et al 2011 (PMID: 21039434): The same authors as above later reported another individual with similar phenotype with a paternally inherited heterozygous missense variant, this variant has 91 hets in gnomAD and the father was unaffected. They suggest digenic inheritance but found no other variants in 3 candidate genes.

Wang et al 2023 (PMID: 37828500): 2 x compound heterozygous missense variants were identified in a patient with CLSD.

Cisarova et al 2022 (PMID: 34580982) 1 x patient with CLSD and a het missense variant inherited from his affected father. Shown to be de novo in the father.

Minale et al 2024 (PMID: 38275611): 1 x patient with CLSD and a de novo het missense variant

Zebrafish models lend some support to the gene-disease association (PMID:16980979, 16980978)

Summary: 2 reports of AR inheritance, 2 reports of AD inheritance, 1 uncertain
Prepair 1000+ v1.1868 SEC23A Melanie Marty edited their review of gene: SEC23A: Changed rating: RED; Changed publications: 16980979, 21039434, 16980978, 27148587, 37828500, 34580982, 38275611
Prepair 1000+ v1.1868 SEC23A Melanie Marty reviewed gene: SEC23A: Rating: AMBER; Mode of pathogenicity: None; Publications: 16980979, 21039434, 16980978, 27148587, 37828500, 34580982, PMID: 38275611; Phenotypes: Craniolenticulosutural dysplasia, MIM#607812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 MUSK Andrew Coventry reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: 25537362, 25612909, 8653786, 31750350, 15496425, 19949040, 20371544, 32253145; Phenotypes: Fetal akinesia deformation sequence 1 MIM#208150, Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency MIM#616325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 MTTP Andrew Coventry reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: 17275380, 34078172, 34052173, 33258201; Phenotypes: Abetalipoproteinemia MIM#200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 MTHFD1 Andrew Coventry reviewed gene: MTHFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32414565, 19033438; Phenotypes: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia MIM#617780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 MKS1 Andrew Coventry reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17377820, 24886560, 19776033, 33193692, 27570071, 27377014, 18327255, 24608809; Phenotypes: Bardet-Biedl syndrome 13 MIM#615990, Joubert syndrome 28 MIM#617121, Meckel syndrome 1 MIM#249000, Ciliopathy MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 MBTPS2 Andrew Coventry reviewed gene: MBTPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19361614, 27380894, 34902613, 14708109, 22105905, 24313295, 19689518, 24090718, 21600032; Phenotypes: IFAP syndrome with or without BRESHECK syndrome MIM#308205, Osteogenesis imperfecta, type XIX MIM#301014; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1868 LYST Andrew Coventry reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: 8896560, 9215680, 31906877, 9215679, 26499269, 24112114, 28145517; Phenotypes: Chediak-Higashi syndrome MIM#214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 LRMDA Andrew Coventry reviewed gene: LRMDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 37053367, 23395477, 38555393; Phenotypes: Albinism, oculocutaneous, type VII MIM#615179, MONDO:0014070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 LARS2 Andrew Coventry reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29205794, 32423379, 30737337, 26537577, 23541342; Phenotypes: Hydrops, lactic acidosis, and sideroblastic anemia MIM#617021, Perrault syndrome 4 MIM#615300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 KIF7 Andrew Coventry reviewed gene: KIF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 21552264, 36580738, 21633164, 19666503, 30445565, 26648833, 26349186, 26174511, 25714560; Phenotypes: Al-Gazali-Bakalinova syndrome MIM#607131, Hydrolethalus syndrome 2 MIM#614120, Acrocallosal syndrome MIM#200990, Joubert syndrome 12 MIM#200990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 KIAA1109 Andrew Coventry reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: None; Publications: 29290337, 30906834, 25558065; Phenotypes: Alkuraya-Kucinskas syndrome MIM#617822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 KCNV2 Andrew Coventry reviewed gene: KCNV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16909397, 18235024, 21882291, 15722315, 30820446, 21882291, 23115240; Phenotypes: Inherited retinal dystrophy MONDO:0019118, Retinal cone dystrophy 3B MIM#610356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 INPP5K Andrew Coventry reviewed gene: INPP5K: Rating: GREEN; Mode of pathogenicity: None; Publications: 28190456, 28190459, 28940338, 31630891, 33193651, 33792664; Phenotypes: Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 IFT172 Andrew Coventry reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: None; Publications: 30761183, 26763875, 25168386, 24140113, 25168386; Phenotypes: Bardet-Biedl syndrome 20 MIM#619471, Retinitis pigmentosa 71 MIM#616394, Short-rib thoracic dysplasia 10 with or without polydactyly MIM#615630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 IBA57 Andrew Coventry reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: 23462291, 25971455, 25609768, 28913435, 28671726, 30258207; Phenotypes: Mitochondrial disease MONDO:0044970, Multiple mitochondrial dysfunctions syndrome 3 MIM#615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 HSPD1 Andrew Coventry reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18571143, 27405012, 32532876, 28377887, 27405012; Phenotypes: Leukodystrophy, hypomyelinating, 4 MIM#612233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 HPS3 Andrew Coventry reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11455388, 31880485, 31621111, 30990103; Phenotypes: Hermansky-Pudlak syndrome 3 MIM#614072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 HAMP Andrew Coventry reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 12469120, 12490283, 34828384, 15198949; Phenotypes: Hemochromatosis, type 2B MIM#613313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 HADH Andrew Coventry reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: 1835339, 10347277, 10931422; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 GLDN Andrew Coventry reviewed gene: GLDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27616481, 32812332, 28726266, 35806855; Phenotypes: Lethal congenital contracture syndrome 11 MIM#617194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 GBA Andrew Coventry reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease, perinatal lethal MIM#608013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 FTSJ1 Andrew Coventry reviewed gene: FTSJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15342698, 18081026, 15162322, 26310293; Phenotypes: Intellectual developmental disorder, X-linked 9 MIM#309549, X-linked complex neurodevelopmental disorder MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1868 FRAS1 Andrew Coventry reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12766769, 18671281, 16894541, 17163535; Phenotypes: Fraser syndrome 1 MIM#219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 FKBP14 Andrew Coventry reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: None; Publications: 22265013, 24773188, 27149304, 31132235, 30561154, 28617417; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MIM#614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 FGD4 Andrew Coventry reviewed gene: FGD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564959, 31152969, 28847448, 28543957, 17564972; Phenotypes: Charcot-Marie-Tooth disease, type 4H MIM#609311, Charcot-Marie-Tooth disease MONDO:0015626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 FANCL Andrew Coventry reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19405097, 25754594, 33394227, 33224012, 12973351, 31513304; Phenotypes: Fanconi anemia, complementation group L MIM#614083; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 FANCD2 Andrew Coventry reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301575, 17436244, 25703294, 23613520; Phenotypes: Fanconi anemia, complementation group D2 MIM#227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 FAM20C Andrew Coventry reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19250384, 32299476, 20825432, 33676444, 32833257; Phenotypes: Raine syndrome MIM#259775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 EIF2B3 Andrew Coventry reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11835386, 19158808, 21484434, 18263758, 25843247, 25761052, 28904586, 28597716; Phenotypes: Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure MIM#620313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 POLE Andrew Coventry gene: POLE was added
gene: POLE was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE were set to 30503519; 23230001; 25948378; 36071887
Phenotypes for gene: POLE were set to IMAGE-I syndrome MIM#618336; FILS syndrome MIM#615139
Review for gene: POLE was set to GREEN
Added comment: IMAGE-I Syndrome
Autosomal recessive disorder characterised by intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency. Patients exhibit distinctive facial features and variable immune dysfunction with evidence of lymphocyte deficiency.
Well established gene-disease association. Reported in greater than 10 families.
Note recurrent intronic variant, c.1686+32C-G (intron 15) in IMAGE-I, found in combination with multiple other variants.

FILS syndrome
FILS syndrome is characterised by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, immunodeficiency resulting in recurrent infections, and short stature.
PMID: 23230001 - French consanguineoius kindred: 11 affected individuals displayed mild facial dysmorphism, immunodeficiency, livedo, and short stature. 3 additional members displayed two or three of these four features. Homozygous for splicing site variant: c.4444+3A>G.
PMID: 25948378 - Palestinian girl, with same homozygous variant as reported in French family.
PMID: 36071887 - 4y.o. Chinese boy with c.5811 + 2T > C and c.2006G > A variants.
PMID: 32705701 - 6y.o. hispanic boy reported with homozygous c.100C>T(p.Arg34Cys
Total of 14 affected individuals across 4 families.
Sources: Literature
Prepair 1000+ v1.1868 CHMP1A Andrew Coventry gene: CHMP1A was added
gene: CHMP1A was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHMP1A were set to 23023333; 37789895
Phenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia, type 8 MIM#614961
Review for gene: CHMP1A was set to AMBER
Added comment: Pontocerebellar hypoplasia type 8 is an autosomal recessive neurodevelopmental disorder characterised by severe psychomotor impediment, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum.

Zebrafish model present.
PMID: 23023333 - Three families reported, 2 variants; two families likely with founder effect.
PMID: 37789895 - describe novel variants in an affected individual, one is deletion of exon 1, other is c.53 T > C (p.Leu18Pro).
Total 4 families now reported with 4 variants.
Sources: Literature
Prepair 1000+ v1.1868 POLR1D Andrew Coventry gene: POLR1D was added
gene: POLR1D was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: POLR1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POLR1D were set to 21131976; 24603435; 27448281; 25790162
Phenotypes for gene: POLR1D were set to Treacher Collins syndrome 2 MIM#613717
Review for gene: POLR1D was set to AMBER
Added comment: Treacher Collins syndrome is a disorder of craniofacial development characterised by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.

Currently, only one study reporting AR TCS, 1 pathogenic variant in 4 affected individuals, across 2 unrelated consanguineous families. PMID: 24603435.
Adding gene, requiring further evidence in humans for consideration for inclusion in screening of AR TCS.
Sources: Literature
Prepair 1000+ v1.1868 NUP107 Karina Sandoval reviewed gene: NUP107: Rating: GREEN; Mode of pathogenicity: None; Publications: 28280135, 28117080, 30179222, 25558065, 26411495; Phenotypes: Galloway-Mowat syndrome 7, MIM#618348, Nephrotic syndrome, type 11, MIM#616730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 NR0B1 Karina Sandoval reviewed gene: NR0B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19508677, 26030781; Phenotypes: Adrenal hypoplasia, congenital, MIM#300200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1868 NDUFV2 Karina Sandoval reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811136, 34405929, 12754703, 26008862, 30770271, 19167255; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7, MIM#618229, MONDO:0044970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 MAPKBP1 Karina Sandoval reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28089251, 33623699, 32505465, 32055034; Phenotypes: Nephronophthisis 20, MIM# 617271, MONDO:0014997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 COL11A2 Melanie Marty edited their review of gene: COL11A2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 COL11A2 Melanie Marty changed review comment from: The gene-disease association with otospondylomegaepiphyseal dysplasia is well established (DEFINITIVE) by ClinGen, and deafness is part of the phenotype, both mono-allelic and bi-allelic variants are reported. Otospondylomegaepiphyseal dysplasia AD (OSMED, MIM#184840) is also known as non-ocular Stickler syndrome or Type III Stickler syndrome.

There are also a number of reports of mono-allelic and bi-allelic variants associated with isolated deafness (PMIDs: 10581026;25633957;16033917), and rated as MODERATE by ClinGen for AR and DEFINITIVE for AD. Bi-allelic variants are associated with severe pre lingual deafness.

Fibrochondrogenesis 2 a severe skeletal dysplasia is associated with AD and AR.; to: The gene-disease association with otospondylomegaepiphyseal dysplasia is well established (DEFINITIVE) by ClinGen, and deafness is part of the phenotype, both mono-allelic and bi-allelic variants are reported. Otospondylomegaepiphyseal dysplasia AD (OSMED, MIM#184840) is also known as non-ocular Stickler syndrome or Type III Stickler syndrome.

There are also a number of reports of mono-allelic and bi-allelic variants associated with isolated deafness (PMIDs: 10581026;25633957;16033917), and rated as MODERATE by ClinGen for AR and DEFINITIVE for AD. Bi-allelic variants are associated with severe pre lingual deafness.

Fibrochondrogenesis 2 a severe skeletal dysplasia is associated with AD and AR.

Only including the AR phenotypes for this screening panel.
Prepair 1000+ v1.1868 COL11A2 Melanie Marty reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10581026, 25633957, 16033917, 25240749, 22796475, 20112039; Phenotypes: Deafness, autosomal recessive 53 MIM#609706, Fibrochondrogenesis 2 MIM#614524, Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 TRIT1 Zornitza Stark Marked gene: TRIT1 as ready
Prepair 1000+ v1.1868 TRIT1 Zornitza Stark Gene: trit1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1868 TRIT1 Zornitza Stark Phenotypes for gene: TRIT1 were changed from Combined oxidative phosphorylation deficiency 35, 617873 (3), Autosomal recessive to Combined oxidative phosphorylation deficiency 35 MIM#617873
Prepair 1000+ v1.1867 TRIT1 Zornitza Stark Publications for gene: TRIT1 were set to
Prepair 1000+ v1.1866 NEB Zornitza Stark Publications for gene: NEB were set to 27228465
Prepair 1000+ v1.1865 OSTM1 Zornitza Stark Marked gene: OSTM1 as ready
Prepair 1000+ v1.1865 OSTM1 Zornitza Stark Gene: ostm1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1865 OSTM1 Zornitza Stark Phenotypes for gene: OSTM1 were changed from Osteopetrosis, autosomal recessive 5, 259720 (3) to Osteopetrosis, autosomal recessive 5, MIM#259720
Prepair 1000+ v1.1864 OSTM1 Zornitza Stark Publications for gene: OSTM1 were set to
Prepair 1000+ v1.1863 OSTM1 Zornitza Stark reviewed gene: OSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 5, MIM#259720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1863 PCDH15 Zornitza Stark Marked gene: PCDH15 as ready
Prepair 1000+ v1.1863 PCDH15 Zornitza Stark Gene: pcdh15 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1863 PCDH15 Zornitza Stark Phenotypes for gene: PCDH15 were changed from Usher syndrome, type 1F, 602083 (3) to Usher syndrome, type 1F, MIM# 602083
Prepair 1000+ v1.1862 PCDH15 Zornitza Stark Publications for gene: PCDH15 were set to
Prepair 1000+ v1.1861 SLC39A8 Zornitza Stark Marked gene: SLC39A8 as ready
Prepair 1000+ v1.1861 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1861 SLC39A8 Zornitza Stark Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn, 616721 (3), Autosomal recessive to Congenital disorder of glycosylation, type IIn MIM#616721
Prepair 1000+ v1.1860 SLC39A8 Zornitza Stark Publications for gene: SLC39A8 were set to
Prepair 1000+ v1.1859 SRD5A3 Zornitza Stark Marked gene: SRD5A3 as ready
Prepair 1000+ v1.1859 SRD5A3 Zornitza Stark Gene: srd5a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1859 SRD5A3 Zornitza Stark Phenotypes for gene: SRD5A3 were changed from Congenital disorder of glycosylation, type Iq, 612379 (3) to Congenital disorder of glycosylation, type Iq MIM#612379; Kahrizi syndrome#612713; SRD5A3-congenital disorder of glycosylation (MONDO:0012885)
Prepair 1000+ v1.1858 SRD5A3 Zornitza Stark Publications for gene: SRD5A3 were set to
Prepair 1000+ v1.1857 TBC1D23 Zornitza Stark Marked gene: TBC1D23 as ready
Prepair 1000+ v1.1857 TBC1D23 Zornitza Stark Gene: tbc1d23 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1857 TBC1D23 Zornitza Stark Phenotypes for gene: TBC1D23 were changed from Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive to Pontocerebellar hypoplasia, type 11, MIM#617695
Prepair 1000+ v1.1856 TBC1D23 Zornitza Stark Publications for gene: TBC1D23 were set to
Prepair 1000+ v1.1855 LRSAM1 Zornitza Stark Tag for review tag was added to gene: LRSAM1.
Prepair 1000+ v1.1855 TCIRG1 Zornitza Stark Marked gene: TCIRG1 as ready
Prepair 1000+ v1.1855 TCIRG1 Zornitza Stark Gene: tcirg1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1855 TCIRG1 Zornitza Stark Phenotypes for gene: TCIRG1 were changed from Osteopetrosis, autosomal recessive 1, 259700 (3) to Osteopetrosis, autosomal recessive 1 MIM#259700
Prepair 1000+ v1.1854 TCIRG1 Zornitza Stark Publications for gene: TCIRG1 were set to
Prepair 1000+ v1.1853 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Prepair 1000+ v1.1853 PEX7 Zornitza Stark Gene: pex7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1853 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3) to Peroxisome biogenesis disorder 9B, MIM# 614879; Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100
Prepair 1000+ v1.1852 PEX7 Zornitza Stark Publications for gene: PEX7 were set to
Prepair 1000+ v1.1851 PGAP1 Zornitza Stark Marked gene: PGAP1 as ready
Prepair 1000+ v1.1851 PGAP1 Zornitza Stark Gene: pgap1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1851 PGAP1 Zornitza Stark Phenotypes for gene: PGAP1 were changed from Mental retardation, autosomal recessive 42, 615802 (3), Autosomal recessive to Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802
Prepair 1000+ v1.1850 PGAP1 Zornitza Stark Publications for gene: PGAP1 were set to
Prepair 1000+ v1.1849 POC1A Zornitza Stark Marked gene: POC1A as ready
Prepair 1000+ v1.1849 POC1A Zornitza Stark Gene: poc1a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1849 POC1A Zornitza Stark Phenotypes for gene: POC1A were changed from Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3) to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813
Prepair 1000+ v1.1848 POC1A Zornitza Stark Publications for gene: POC1A were set to
Prepair 1000+ v1.1847 PPA2 Zornitza Stark Marked gene: PPA2 as ready
Prepair 1000+ v1.1847 PPA2 Zornitza Stark Gene: ppa2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1847 PPA2 Zornitza Stark Phenotypes for gene: PPA2 were changed from Sudden cardiac failure, infantile, 617222 (3), Autosomal recessive to Sudden cardiac failure, infantile, MIM#617222; Sudden cardiac failure, alcohol-induced, MIM#617223
Prepair 1000+ v1.1846 PPA2 Zornitza Stark Publications for gene: PPA2 were set to
Prepair 1000+ v1.1845 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Prepair 1000+ v1.1845 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1845 VPS33B Zornitza Stark Phenotypes for gene: VPS33B were changed from Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3) to Arthrogryposis, renal dysfunction, and cholestasis 1 MIM#208085; Cholestasis, progressive familial intrahepatic, 12 MIM#620010; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive MIM#620009
Prepair 1000+ v1.1844 VPS33B Zornitza Stark Publications for gene: VPS33B were set to
Prepair 1000+ v1.1843 PRDM12 Zornitza Stark Marked gene: PRDM12 as ready
Prepair 1000+ v1.1843 PRDM12 Zornitza Stark Gene: prdm12 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1843 PRDM12 Zornitza Stark Phenotypes for gene: PRDM12 were changed from Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3), Autosomal recessive to Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488
Prepair 1000+ v1.1842 PRDM12 Zornitza Stark Publications for gene: PRDM12 were set to
Prepair 1000+ v1.1841 PRX Zornitza Stark Marked gene: PRX as ready
Prepair 1000+ v1.1841 PRX Zornitza Stark Gene: prx has been classified as Green List (High Evidence).
Prepair 1000+ v1.1841 PRX Zornitza Stark Phenotypes for gene: PRX were changed from Dejerine-Sottas disease, 145900 (3) to Charcot-Marie-Tooth disease, type 4F, MIM# 614895; Dejerine-Sottas disease, MIM# 145900
Prepair 1000+ v1.1840 PRX Zornitza Stark Publications for gene: PRX were set to
Prepair 1000+ v1.1839 PUS1 Zornitza Stark Marked gene: PUS1 as ready
Prepair 1000+ v1.1839 PUS1 Zornitza Stark Gene: pus1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1839 PUS1 Zornitza Stark Phenotypes for gene: PUS1 were changed from Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3) to Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462
Prepair 1000+ v1.1838 PUS1 Zornitza Stark Publications for gene: PUS1 were set to
Prepair 1000+ v1.1837 QDPR Zornitza Stark Marked gene: QDPR as ready
Prepair 1000+ v1.1837 QDPR Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1837 QDPR Zornitza Stark Phenotypes for gene: QDPR were changed from Hyperphenylalaninemia, BH4-deficient, C, 261630 (3) to Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630
Prepair 1000+ v1.1836 QDPR Zornitza Stark Publications for gene: QDPR were set to
Prepair 1000+ v1.1835 RAB27A Zornitza Stark Marked gene: RAB27A as ready
Prepair 1000+ v1.1835 RAB27A Zornitza Stark Gene: rab27a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1835 RAB27A Zornitza Stark Phenotypes for gene: RAB27A were changed from Griscelli syndrome, type 2, 607624 (3) to Griscelli syndrome, type 2, MIM# 607624
Prepair 1000+ v1.1834 RAB27A Zornitza Stark Publications for gene: RAB27A were set to
Prepair 1000+ v1.1833 RAD50 Zornitza Stark Marked gene: RAD50 as ready
Prepair 1000+ v1.1833 RAD50 Zornitza Stark Gene: rad50 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1833 RAD50 Zornitza Stark Phenotypes for gene: RAD50 were changed from Nijmegen breakage syndrome-like disorder, 613078 (3) to Nijmegen breakage syndrome-like disorder, MIM# 613078
Prepair 1000+ v1.1832 RAD50 Zornitza Stark Publications for gene: RAD50 were set to
Prepair 1000+ v1.1831 RPGRIP1L Zornitza Stark Marked gene: RPGRIP1L as ready
Prepair 1000+ v1.1831 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Prepair 1000+ v1.1831 RPGRIP1L Zornitza Stark Phenotypes for gene: RPGRIP1L were changed from Meckel syndrome 5, 611561 (3) to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Ciliopathy, RPGRIP1L-related, MONDO:0005308
Prepair 1000+ v1.1830 RPGRIP1L Zornitza Stark Publications for gene: RPGRIP1L were set to
Prepair 1000+ v1.1829 SLC1A4 Zornitza Stark Marked gene: SLC1A4 as ready
Prepair 1000+ v1.1829 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1829 SLC1A4 Zornitza Stark Publications for gene: SLC1A4 were set to
Prepair 1000+ v1.1828 ABCB11 Zornitza Stark Marked gene: ABCB11 as ready
Prepair 1000+ v1.1828 ABCB11 Zornitza Stark Gene: abcb11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1828 ABCB11 Zornitza Stark Phenotypes for gene: ABCB11 were changed from Cholestasis, progressive familial intrahepatic 2, 601847 (3) to Cholestasis, progressive familial intrahepatic 2, MIM# 601847
Prepair 1000+ v1.1827 ABCB11 Zornitza Stark Publications for gene: ABCB11 were set to
Prepair 1000+ v1.1826 FITM2 Zornitza Stark Tag for review tag was added to gene: FITM2.
Prepair 1000+ v1.1826 FITM2 Melanie Marty edited their review of gene: FITM2: Changed publications: 28067622, 30214770, 30288795, 35754111
Prepair 1000+ v1.1826 FITM2 Melanie Marty reviewed gene: FITM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28067622, 30214770, 30288795, 28067622, 35754111; Phenotypes: Siddiqi syndrome, MIM#618635; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 ABCB11 Melanie Marty reviewed gene: ABCB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 16871584, 23141890, 9806540, 15300568, 11172067; Phenotypes: Cholestasis, progressive familial intrahepatic 2, MIM# 601847, Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 SLC1A4 Melanie Marty reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25930971, 26138499, 26041762, 27193218, 29989513; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 SETX Melanie Marty reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: 23129421; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (MIM#606002); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 RPGRIP1L Melanie Marty reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 17558409, 17558407, 17960139, 26071364, 19574260, 29991045; Phenotypes: Joubert syndrome 7, MIM# 611560, Meckel syndrome 5, MIM# 611561, COACH syndrome 3, MIM# 619113, Ciliopathy, RPGRIP1L-related, MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 RAD50 Melanie Marty reviewed gene: RAD50: Rating: GREEN; Mode of pathogenicity: None; Publications: 19409520, 32212377, 33378670; Phenotypes: Nijmegen breakage syndrome-like disorder, MIM# 613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 RAB27A Melanie Marty reviewed gene: RAB27A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32374962, 32107531; Phenotypes: Griscelli syndrome, type 2, MIM# 607624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 QDPR Melanie Marty reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 11153907; Phenotypes: Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 PUS1 Melanie Marty reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25227147, 17056637, 15108122, 32287105, 31641589, 28832011; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 PRX Melanie Marty reviewed gene: PRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11133365, 11157804, 15197604, 21079185, 22847150, 10839370, 32460404, 31523542, 31426691; Phenotypes: Charcot-Marie-Tooth disease, type 4F, MIM# 614895, Dejerine-Sottas disease, MIM# 145900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 PRDM12 Melanie Marty reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005867, 33789102, 33010785, 32828702; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 VPS33B Michelle Torres reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31479177, 30561130, 28017832; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1 MIM#208085, Cholestasis, progressive familial intrahepatic, 12 MIM#620010, Keratoderma-ichthyosis-deafness syndrome, autosomal recessive MIM#620009; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 PPA2 Melanie Marty reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27523598, 34400813; Phenotypes: Sudden cardiac failure, infantile, MIM#617222, Sudden cardiac failure, alcohol-induced, MIM#617223; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 POC1A Melanie Marty reviewed gene: POC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22840364, 22840363, 26374189, 26162852, 26791357; Phenotypes: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 PGAP1 Melanie Marty reviewed gene: PGAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24784135, 25823418, 25804403, 26050939; Phenotypes: Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 PEX7 Melanie Marty reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: None; Publications: 11781871, 12522768, 12325024; Phenotypes: Peroxisome biogenesis disorder 9B, MIM# 614879, Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 TCIRG1 Michelle Torres reviewed gene: TCIRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34624559, 34210262, 30084437, 28816234; Phenotypes: Osteopetrosis, autosomal recessive 1 MIM#259700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 LRSAM1 Melanie Marty changed review comment from: Only a single family reported with recessive inheritance.

Over 30 families reported with dominant disease.

Age of onset typically between the second and fifth decades of life.

Marking as red for carrier screening due to age of onset and limited evidence for recessive disease.; to: Only a single family reported with recessive inheritance.

Over 30 families reported with dominant disease.

Age of onset typically between the second and fifth decades of life. Peak age of onset in second decade (range childhood to 76 years) (OMIM).

Marking as red for carrier screening due to age of onset and limited evidence for recessive disease.
Prepair 1000+ v1.1826 LRSAM1 Melanie Marty changed review comment from: Only a single family reported with recessive inheritance.

Over 30 families reported with dominant disease.

Age of onset typically between the second and fifth decades of life.; to: Only a single family reported with recessive inheritance.

Over 30 families reported with dominant disease.

Age of onset typically between the second and fifth decades of life.

Marking as red for carrier screening due to age of onset and limited evidence for recessive disease.
Prepair 1000+ v1.1826 LRSAM1 Melanie Marty edited their review of gene: LRSAM1: Changed publications: 38330802, 33568173
Prepair 1000+ v1.1826 TBC1D23 Michelle Torres reviewed gene: TBC1D23: Rating: GREEN; Mode of pathogenicity: None; Publications: 28823707, 28823706; Phenotypes: Pontocerebellar hypoplasia, type 11 MIM#617695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 SRD5A3 Michelle Torres reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32424323, 20301507; Phenotypes: Congenital disorder of glycosylation, type Iq MIM#612379, Kahrizi syndrome#612713, SRD5A3-congenital disorder of glycosylation (MONDO:0012885); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 SLC39A8 Michelle Torres reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 37023243, 26637978, 26637979, 29453449; Phenotypes: Congenital disorder of glycosylation, type IIn MIM#616721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 WDR35 Zornitza Stark Marked gene: WDR35 as ready
Prepair 1000+ v1.1826 WDR35 Zornitza Stark Gene: wdr35 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1826 WDR35 Zornitza Stark Phenotypes for gene: WDR35 were changed from Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3) to Cranioectodermal dysplasia 2 MIM#613610; Short-rib thoracic dysplasia 7 with or without polydactyly MIM#614091
Prepair 1000+ v1.1825 WDR35 Zornitza Stark Publications for gene: WDR35 were set to
Prepair 1000+ v1.1824 WISP3 Zornitza Stark Marked gene: WISP3 as ready
Prepair 1000+ v1.1824 WISP3 Zornitza Stark Gene: wisp3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1824 WISP3 Zornitza Stark Phenotypes for gene: WISP3 were changed from Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) to Progressive pseudorheumatoid dysplasia MIM#208230
Prepair 1000+ v1.1823 WISP3 Zornitza Stark Publications for gene: WISP3 were set to
Prepair 1000+ v1.1822 WISP3 Zornitza Stark Tag new gene name tag was added to gene: WISP3.
Prepair 1000+ v1.1822 PCDH15 Melanie Marty reviewed gene: PCDH15: Rating: GREEN; Mode of pathogenicity: None; Publications: 11398101, 11487575, 11138007, 12782354, 16260500, 14570705, 25930172, 28281779; Phenotypes: Usher syndrome, type 1F, MIM# 602083, Deafness, autosomal recessive 23, MIM# 609533; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 PCCA Melanie Marty edited their review of gene: PCCA: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 PCCA Melanie Marty reviewed gene: PCCA: Rating: ; Mode of pathogenicity: None; Publications: 17966092, 10101253, 9887338; Phenotypes: Propionicacidemia, MIM#606054; Mode of inheritance: None
Prepair 1000+ v1.1822 OSTM1 Melanie Marty reviewed gene: OSTM1: Rating: ; Mode of pathogenicity: None; Publications: 12627228, 15108279, 16813530, 23772242, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 5, MIM#259720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 NEB Melanie Marty reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 10051637, 22367672, 26578207, 33376055; Phenotypes: Nemaline myopathy 2, autosomal recessive 256030, Arthrogryposis multiplex congenita 6, MIM# 619334; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 TRIT1 Michelle Torres reviewed gene: TRIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36047296, 32088416, 24901367, 28185376, 30977854; Phenotypes: Combined oxidative phosphorylation deficiency 35 MIM#617873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 WISP3 Michelle Torres reviewed gene: WISP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26610319; Phenotypes: Progressive pseudorheumatoid dysplasia MIM#208230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 WDR35 Michelle Torres reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: None; Publications: 33421337, 29134781, 28870638, 26691894, 24027799, 21473986; Phenotypes: Cranioectodermal dysplasia 2 MIM#613610, Short-rib thoracic dysplasia 7 with or without polydactyly MIM#614091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 NDP Melanie Marty reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23444378, 8268931, 17325173, 27217716, 29181528, 31827910; Phenotypes: Norrie disease, MIM# 310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1822 NCF2 Melanie Marty reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27178966, 7795241, 10498624; Phenotypes: Chronic granulomatous disease 2, autosomal recessive, MIM# 233710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 MYD88 Melanie Marty reviewed gene: MYD88: Rating: GREEN; Mode of pathogenicity: None; Publications: 18669862, 20538326, 31301515; Phenotypes: Immunodeficiency 68, MIM# 612260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 MSTO1 Melanie Marty reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28554942, 28544275, 31604776, 31463572, 31130378, 30684668, 29339779; Phenotypes: Myopathy, mitochondrial, and ataxia, MIM# 617675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 MICU1 Melanie Marty reviewed gene: MICU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24336167, 29721912, 32395406; Phenotypes: Myopathy with extrapyramidal signs, MIM# 615673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 VIPAS39 Michelle Torres reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: 20190753, 35151346; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2 MIM#613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 TRMT10A Michelle Torres reviewed gene: TRMT10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24204302, 25053765, 33448213, 33067246, 26535115, 26526202, 26297882; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 1 MIM#616033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 TRAPPC12 Michelle Torres reviewed gene: TRAPPC12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32369837, 28777934; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity MIM#617669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 SCNN1B Crystle Lee reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 26807262; Phenotypes: Pseudohypoaldosteronism, type IB2, autosomal recessive, MIM#620125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 TRAPPC11 Michelle Torres reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23830518, 26322222, 29855340, 30105108, 38564972; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM#615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 SLC30A10 Crystle Lee reviewed gene: SLC30A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 38283630, 34877518, 22341971; Phenotypes: Hypermanganesemia with dystonia 1, MIM#613280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 SLC7A7 Crystle Lee reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 17764084; Phenotypes: Lysinuric protein intolerance, MIM#222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 STIM1 Crystle Lee reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31448844, 20876309, 25935105; Phenotypes: Immunodeficiency 10, MIM#612783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 LRSAM1 Melanie Marty reviewed gene: LRSAM1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 38330802, 33568173; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 TPP1 Michelle Torres reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31283065; Phenotypes: Ceroid lipofuscinosis, neuronal, 2 MIM#204500, Spinocerebellar ataxia, autosomal recessive 7 MIM#609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 TOE1 Michelle Torres reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28092684, 36738896; Phenotypes: Pontocerebellar hypoplasia, type 7 MIM#614969; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 LONP1 Melanie Marty reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31636596; Phenotypes: CODAS syndrome, MIM#600373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 TBC1D20 Michelle Torres reviewed gene: TBC1D20: Rating: GREEN; Mode of pathogenicity: None; Publications: 24239381, 32740904, 32162791; Phenotypes: Warburg micro syndrome 4 MIM#615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 XYLT2 Michelle Torres reviewed gene: XYLT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34925453, 26027496, 26987875, 30891060, 28484880; Phenotypes: Spondyloocular syndrome MIM#605822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 CLN3 Lilian Downie Marked gene: CLN3 as ready
Prepair 1000+ v1.1822 CLN3 Lilian Downie Added comment: Comment when marking as ready: Consider exclusion (Amber) as we will miss a high proportion of cases due to the founder variant being a 1kb deletion
Prepair 1000+ v1.1822 CLN3 Lilian Downie Gene: cln3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1822 CLN3 Lilian Downie Tag for review tag was added to gene: CLN3.
Prepair 1000+ v1.1822 XRCC4 Michelle Torres reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24389050, 25728776, 25872942; Phenotypes: Short stature, microcephaly, and endocrine dysfunction MIM#616541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 MLC1 Kate Scarff reviewed gene: MLC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11254442, 18757878, 20301707, 29661901; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts 1, MIM #604004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 USH1G Michelle Torres reviewed gene: USH1G: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301442; Phenotypes: Usher syndrome, type 1G MIM#606943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 METTL23 Kate Scarff reviewed gene: METTL23: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24501276, 24626631, 39152716, 32878022, 32439618, 32067349; Phenotypes: Intellectual developmental disorder, autosomal recessive 44, MIM #615942; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 UBE3B Michelle Torres reviewed gene: UBE3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 23200864, 23200864, 34012380, 32949109, 27763745; Phenotypes: Kaufman oculocerebrofacial syndrome MIM#244450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 MEGF10 Kate Scarff reviewed gene: MEGF10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22101682, 22371254, 39654599, 36349186, 35370044, 34828389; Phenotypes: Congenital myopathy 10A, severe variant, MIM #614399, Congenital myopathy 10B, mild variant, MIM #620249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 LRAT Kate Scarff reviewed gene: LRAT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11381255, 18055821, 22570351, 29973277, 24625443, 31448181; Phenotypes: Retinal dystrophy, early-onset severe, Leber congenital amaurosis 14, Retinitis pigmentosa, juvenile, all under MIM #613341; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 LMBR1 Zornitza Stark Marked gene: LMBR1 as ready
Prepair 1000+ v1.1822 LMBR1 Zornitza Stark Gene: lmbr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1822 LMBR1 Zornitza Stark Phenotypes for gene: LMBR1 were changed from Acheiropody, 200500 (3) to Acheiropody, MIM #200500
Prepair 1000+ v1.1821 LMBR1 Zornitza Stark Publications for gene: LMBR1 were set to
Prepair 1000+ v1.1820 LMBR1 Kate Scarff reviewed gene: LMBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11090342, 10780921, 33863876; Phenotypes: Acheiropody, MIM #200500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1820 LAMC2 Zornitza Stark Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, MIM#619785; Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786 to Epidermolysis bullosa, junctional 3B, severe MIM #619786; Epidermolysis bullosa, junctional 3A, intermediate MIM #619785
Prepair 1000+ v1.1819 LAMC2 Zornitza Stark Publications for gene: LAMC2 were set to
Prepair 1000+ v1.1818 LAMC2 Kate Scarff reviewed gene: LAMC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32017015, 11810295, 24533970, 20301304; Phenotypes: Epidermolysis bullosa, junctional 3B, severe MIM #619786, Epidermolysis bullosa, junctional 3A, intermediate MIM #619785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1818 TSPAN7 Michelle Torres reviewed gene: TSPAN7: Rating: AMBER; Mode of pathogenicity: None; Publications: 26350204, 36625203; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1818 PDHX Zornitza Stark Marked gene: PDHX as ready
Prepair 1000+ v1.1818 PDHX Zornitza Stark Added comment: Comment when marking as ready: Meets criteria, for inclusion in next version.
Prepair 1000+ v1.1818 PDHX Zornitza Stark Gene: pdhx has been removed from the panel.
Prepair 1000+ v1.1818 PDHX Zornitza Stark Tag for review tag was added to gene: PDHX.
Prepair 1000+ v1.1818 OTULIN Zornitza Stark Marked gene: OTULIN as ready
Prepair 1000+ v1.1818 OTULIN Zornitza Stark Added comment: Comment when marking as ready: For review. Likely meets criteria for inclusion in next version.
Prepair 1000+ v1.1818 OTULIN Zornitza Stark Gene: otulin has been removed from the panel.
Prepair 1000+ v1.1818 OTULIN Zornitza Stark Phenotypes for gene: OTULIN were changed from to Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive MIM#617099
Prepair 1000+ v1.1817 OTULIN Zornitza Stark Publications for gene: OTULIN were set to
Prepair 1000+ v1.1816 OTULIN Zornitza Stark Tag for review tag was added to gene: OTULIN.
Prepair 1000+ v1.1816 AGTR1 Zornitza Stark Marked gene: AGTR1 as ready
Prepair 1000+ v1.1816 AGTR1 Zornitza Stark Added comment: Comment when marking as ready: Meets criteria, for inclusion in next version.
Prepair 1000+ v1.1816 AGTR1 Zornitza Stark Gene: agtr1 has been removed from the panel.
Prepair 1000+ v1.1816 AGTR1 Zornitza Stark Tag for review tag was added to gene: AGTR1.
Prepair 1000+ v1.1816 MTPAP Zornitza Stark Marked gene: MTPAP as ready
Prepair 1000+ v1.1816 MTPAP Zornitza Stark Added comment: Comment when marking as ready: Meets criteria, for inclusion in next version.
Prepair 1000+ v1.1816 MTPAP Zornitza Stark Gene: mtpap has been removed from the panel.
Prepair 1000+ v1.1816 MTPAP Zornitza Stark Tag for review tag was added to gene: MTPAP.
Prepair 1000+ v1.1816 RBM8A Zornitza Stark Marked gene: RBM8A as ready
Prepair 1000+ v1.1816 RBM8A Zornitza Stark Gene: rbm8a has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.1816 RBM8A Zornitza Stark Classified gene: RBM8A as Amber List (moderate evidence)
Prepair 1000+ v1.1816 RBM8A Zornitza Stark Gene: rbm8a has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.1815 RBM8A Zornitza Stark reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia-absent radius syndrome MIM#274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1815 SCO1 Zornitza Stark Marked gene: SCO1 as ready
Prepair 1000+ v1.1815 SCO1 Zornitza Stark Added comment: Comment when marking as ready: Meets criteria, for inclusion in next version.
Prepair 1000+ v1.1815 SCO1 Zornitza Stark Gene: sco1 has been removed from the panel.
Prepair 1000+ v1.1815 SCO1 Zornitza Stark Tag for review tag was added to gene: SCO1.
Prepair 1000+ v1.1815 PEX19 Zornitza Stark Marked gene: PEX19 as ready
Prepair 1000+ v1.1815 PEX19 Zornitza Stark Added comment: Comment when marking as ready: Meets criteria, for inclusion in next version.
Prepair 1000+ v1.1815 PEX19 Zornitza Stark Gene: pex19 has been removed from the panel.
Prepair 1000+ v1.1815 PEX19 Zornitza Stark Tag for review tag was added to gene: PEX19.
Prepair 1000+ v1.1815 BRWD3 Zornitza Stark Marked gene: BRWD3 as ready
Prepair 1000+ v1.1815 BRWD3 Zornitza Stark Gene: brwd3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1815 BRWD3 Zornitza Stark Phenotypes for gene: BRWD3 were changed from Mental retardation, X-linked 93, 300659 (3) to Intellectual developmental disorder, X-linked 93 MIM#300659
Prepair 1000+ v1.1814 BRWD3 Zornitza Stark Publications for gene: BRWD3 were set to
Prepair 1000+ v1.1813 CASK Zornitza Stark Marked gene: CASK as ready
Prepair 1000+ v1.1813 CASK Zornitza Stark Gene: cask has been classified as Green List (High Evidence).
Prepair 1000+ v1.1813 CASK Zornitza Stark Phenotypes for gene: CASK were changed from Mental retardation, with or without nystagmus to X-linked syndromic intellectual disability MONDO:0020119
Prepair 1000+ v1.1812 CASK Zornitza Stark Publications for gene: CASK were set to
Prepair 1000+ v1.1811 CASK Andrew Coventry reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: 21954287, 12522552, 19377476, 20029458, 28139025, 28944139; Phenotypes: X-linked syndromic intellectual disability MONDO:0020119; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1811 BRWD3 Andrew Coventry reviewed gene: BRWD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17668385, 30628072, 24462886; Phenotypes: Intellectual developmental disorder, X-linked 93 MIM#300659; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1811 PEX19 Andrew Coventry gene: PEX19 was added
gene: PEX19 was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX19 were set to 10051604; 20683989; 39757991; 21031596; 30561787; 36931687
Phenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886; Peroxisome biogenesis disorder MONDO:0019234
Review for gene: PEX19 was set to GREEN
Added comment: Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life.

Functional studies and animal models are present.
Reported in individuals across at least 4 unrelated families.
Sources: Literature
Prepair 1000+ v1.1811 SCO1 Andrew Coventry changed review comment from: Four unrelated families reported, typically presenting with lactatic acidosis and encephalopathy in infancy. SCO1 pathogenic variants were first described in an infant with respiratory distress, metabolic acidosis, hepatic failure, and encephalopathy in the setting of profound complex IV deficiency in muscle and liver. Further reports have shown phenotypic spectrum to include cardiomyopathy, encephalopathy, and lactic acidosis without cardiac or hepatic involvement. Many cases are fatal in the first few months of life.
Functional studies and model organisms also present.

ClinGen: While various names have been given to the constellation of features seen in those with SCO1-related disease, pathogenic variants in this gene cause a primary mitochondrial disease. Therefore, the SCO1 phenotype has been lumped into one disease entity.
Sources: Literature; to: Six unrelated families reported.
Typically presenting with lactatic acidosis and encephalopathy in infancy. SCO1 pathogenic variants were first described in an infant with respiratory distress, metabolic acidosis, hepatic failure, and encephalopathy in the setting of profound complex IV deficiency in muscle and liver. Further reports have shown phenotypic spectrum to include cardiomyopathy, encephalopathy, and lactic acidosis without cardiac or hepatic involvement. Many cases are fatal in the first few months of life.
Functional studies and model organisms also present.

ClinGen: While various names have been given to the constellation of features seen in those with SCO1-related disease, pathogenic variants in this gene cause a primary mitochondrial disease. Therefore, the SCO1 phenotype has been lumped into one disease entity.

PMID: 39214134: 3 cases from 2 unrelated families, with developmental and epileptic encephalopathy, hypopituitarism.
Prepair 1000+ v1.1811 SCO1 Andrew Coventry gene: SCO1 was added
gene: SCO1 was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCO1 were set to 11013136; 19295170; 31352446; 23878101
Phenotypes for gene: SCO1 were set to Mitochondrial disease MONDO:0044970; Mitochondrial complex IV deficiency, nuclear type 4 MIM#619048
Review for gene: SCO1 was set to GREEN
Added comment: Four unrelated families reported, typically presenting with lactatic acidosis and encephalopathy in infancy. SCO1 pathogenic variants were first described in an infant with respiratory distress, metabolic acidosis, hepatic failure, and encephalopathy in the setting of profound complex IV deficiency in muscle and liver. Further reports have shown phenotypic spectrum to include cardiomyopathy, encephalopathy, and lactic acidosis without cardiac or hepatic involvement. Many cases are fatal in the first few months of life.
Functional studies and model organisms also present.

ClinGen: While various names have been given to the constellation of features seen in those with SCO1-related disease, pathogenic variants in this gene cause a primary mitochondrial disease. Therefore, the SCO1 phenotype has been lumped into one disease entity.
Sources: Literature
Prepair 1000+ v1.1811 RBM8A Andrew Coventry gene: RBM8A was added
gene: RBM8A was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBM8A were set to 22366785; 17236129; 26550033; 32227665
Phenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome MIM#274000
Review for gene: RBM8A was set to AMBER
Added comment: The thrombocytopenia-absent radius syndrome (TAR) is characterised by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia. Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee.

Vast majority of cases include a recurrent 200kb deletion on one allele (although truncations are seen) and the presence of 1 of 2 SNPs in trans. The SNPs have a MAF of 3.05% and 0.42%. Cases have been reported with this phenotype without the 200kb deletion (PMID: 22366785, 32227665).

Currently, the large CNV in majority of cases would not be detected.
Sources: Literature
Prepair 1000+ v1.1811 MTPAP Andrew Coventry gene: MTPAP was added
gene: MTPAP was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTPAP were set to 20970105; 33340416; 32376682; 15769737; 31779033; 35235001; 27391121
Phenotypes for gene: MTPAP were set to Mitochondrial disease MONDO:0044970
Review for gene: MTPAP was set to GREEN
Added comment: Definitive disease-gene classification by ClinGen - "Identified in five individuals from four publications (PMIDs: 20970105, 31779033, 35235001, 27391121). Supported by a biochemical function (mitochondrial translation) shared with other genes associated with primary mitochondrial disease, early embryonic lethality and failure of developmental progression in a knockout mouse model, and disrupted expression of mitochondrial proteins and mitochondrial dysfunction following gene knockdown in HeLa cells (PMIDs: 33340416, 32376682, 15769737)."

Note that 6 individuals with spastic ataxia all had same founder variant and were traced as distantly related (Amish community - c.1432A>G (p.Asn478Asp).
Further additional families reported with a much more severe phenotype of lethal encephalopathy.

Phenotypes previous reported to be associated with MTPAP are likely to represent a continuum of severity associated with a mitochondrial disorder.
Clingen "While various names have been given to the constellation of features seen in those with MTPAP-related disease, including autosomal recessive spastic ataxia 4 (SPAX4) (MIM 613672) in additional to other mitochondrial disorders, pathogenic variants in this gene cause a primary mitochondrial disease.... lumped into one disease entity..."
Sources: Literature
Prepair 1000+ v1.1811 AGTR1 Andrew Coventry gene: AGTR1 was added
gene: AGTR1 was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTR1 were set to 16116425; 22095942
Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis MIM#267430
Review for gene: AGTR1 was set to GREEN
Added comment: Severe disorder of renal tubular development characterised by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. Can cause stillbirth. Three unrelated families reported for AGTR1 variants.
Other genes associated with this phenotype are included in 1000+.
Sources: Literature
Prepair 1000+ v1.1811 OTULIN Andrew Coventry reviewed gene: OTULIN: Rating: AMBER; Mode of pathogenicity: None; Publications: 27523608, 27559085, 30796585, 35170849; Phenotypes: Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive MIM#617099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1811 PDHX Andrew Coventry gene: PDHX was added
gene: PDHX was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDHX were set to 20002125; 34873726; 33092611; 30981218; 25087164; 22766002; 12557299; 14518830; 15303005; 16566017; 27343776
Phenotypes for gene: PDHX were set to Lacticacidemia due to PDX1 deficiency MIM#245349; Mitochondrial disease MONDO:0044970
Review for gene: PDHX was set to GREEN
Added comment: Established gene-disease association.
Clingen definitive for mitochondrial disease: "While various names have been given to the constellation of features seen in those with PDHX-related disorders, including pyruvate dehydrogenase complex deficiency or PDCD, pathogenic variants in this gene ultimately cause a primary mitochondrial disease. Therefore, the PDHX phenotype has been lumped into one disease entity according to the ClinGen Lumping and Splitting Framework."

Condition is a metabolic disorder associated with abnormal function of the mitochondria in cells, thus depriving the body of energy. Progressive neurological symptoms usually start in infancy but may be evident at birth, or in later childhood; these symptoms may include developmental delay, intermittent ataxia, poor muscle tone (hypotonia), abnormal eye movements, or seizures. Severe lethargy, poor feeding, and tachypnea (rapid breathing) commonly occur, especially during times of illness, stress, or high carbohydrate intake.

Clingen: Age of onset ranges from the first days of life to later in childhood, with some individuals living well into adulthood. Clinical features in affected individuals include neonatal lactic acidosis, LSS, seizures, spasticity, agenesis of the corpus callosum, cerebral atrophy, vomiting, and optic atrophy.

Note:
PDHX c.1336C>T (p.Arg446Ter) is a Roma founder variant;
c.1182+2T>C (p.Ile386SerfsTer13) is a Moroccan founder variant.
Sources: Literature
Prepair 1000+ v1.1811 MFRP Zornitza Stark Tag for review tag was added to gene: MFRP.
Prepair 1000+ v1.1811 FAM161A Zornitza Stark Marked gene: FAM161A as ready
Prepair 1000+ v1.1811 FAM161A Zornitza Stark Gene: fam161a has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1811 CBS Zornitza Stark Marked gene: CBS as ready
Prepair 1000+ v1.1811 CBS Zornitza Stark Gene: cbs has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.1811 CBS Zornitza Stark Phenotypes for gene: CBS were changed from Homocystinuria, B6-responsive and nonresponsive types, 236200 (3) to Homocystinuria, B6-responsive and nonresponsive types, MIM#236200
Prepair 1000+ v1.1810 CBS Zornitza Stark Publications for gene: CBS were set to
Prepair 1000+ v1.1809 CBS Zornitza Stark Classified gene: CBS as Amber List (moderate evidence)
Prepair 1000+ v1.1809 CBS Zornitza Stark Gene: cbs has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.1808 CBS Zornitza Stark reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: classic homocystinuria, MONDO:0009352; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1808 ABCC6 Zornitza Stark Marked gene: ABCC6 as ready
Prepair 1000+ v1.1808 ABCC6 Zornitza Stark Gene: abcc6 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1808 TMEM94 Zornitza Stark Tag for review tag was added to gene: TMEM94.
Prepair 1000+ v1.1808 MBTPS1 Zornitza Stark Tag for review tag was added to gene: MBTPS1.
Prepair 1000+ v1.1808 IGHM Zornitza Stark Tag for review tag was added to gene: IGHM.
Prepair 1000+ v1.1808 DYNC1I2 Zornitza Stark Tag for review tag was added to gene: DYNC1I2.
Prepair 1000+ v1.1808 B9D1 Zornitza Stark Tag for review tag was added to gene: B9D1.
Prepair 1000+ v1.1808 ADPRHL2 Zornitza Stark Tag for review tag was added to gene: ADPRHL2.
Prepair 1000+ v1.1808 ZNHIT3 Zornitza Stark Marked gene: ZNHIT3 as ready
Prepair 1000+ v1.1808 ZNHIT3 Zornitza Stark Gene: znhit3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1808 ZNHIT3 Zornitza Stark Phenotypes for gene: ZNHIT3 were changed from PEHO syndrome, 260565 (3), Autosomal recessive to PEHO syndrome MIM#260565
Prepair 1000+ v1.1807 ZNHIT3 Zornitza Stark Publications for gene: ZNHIT3 were set to
Prepair 1000+ v1.1806 ZNF335 Zornitza Stark Marked gene: ZNF335 as ready
Prepair 1000+ v1.1806 ZNF335 Zornitza Stark Gene: znf335 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1806 ZNF335 Zornitza Stark Phenotypes for gene: ZNF335 were changed from Microcephaly 10, primary, autosomal recessive to Microcephaly 10, primary, autosomal recessive, MIM# 615095
Prepair 1000+ v1.1805 ZNF335 Zornitza Stark Publications for gene: ZNF335 were set to
Prepair 1000+ v1.1804 ZIC3 Zornitza Stark Marked gene: ZIC3 as ready
Prepair 1000+ v1.1804 ZIC3 Zornitza Stark Gene: zic3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1804 ZIC3 Zornitza Stark Phenotypes for gene: ZIC3 were changed from Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3) to Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955); Heterotaxy, visceral, 1, X-linked (MIM#306955, MONDO:0010607); VACTERL association, X-linked, MIM# 314390, MONDO:0010752
Prepair 1000+ v1.1803 ZIC3 Zornitza Stark Publications for gene: ZIC3 were set to
Prepair 1000+ v1.1802 ZBTB24 Zornitza Stark Marked gene: ZBTB24 as ready
Prepair 1000+ v1.1802 ZBTB24 Zornitza Stark Gene: zbtb24 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1802 ZBTB24 Zornitza Stark Phenotypes for gene: ZBTB24 were changed from Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3) to Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069; MONDO:0013553
Prepair 1000+ v1.1801 ZBTB24 Zornitza Stark Publications for gene: ZBTB24 were set to
Prepair 1000+ v1.1800 WDR81 Zornitza Stark Marked gene: WDR81 as ready
Prepair 1000+ v1.1800 WDR81 Zornitza Stark Gene: wdr81 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1800 WDR81 Zornitza Stark Phenotypes for gene: WDR81 were changed from Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3) to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 MIM#610185, MONDO:0012430; Hydrocephalus, congenital, 3, with brain anomalies MIM#617967, MONDO:0054794
Prepair 1000+ v1.1799 WDR81 Zornitza Stark Publications for gene: WDR81 were set to
Prepair 1000+ v1.1798 WDR73 Zornitza Stark Marked gene: WDR73 as ready
Prepair 1000+ v1.1798 WDR73 Zornitza Stark Gene: wdr73 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1798 WDR73 Zornitza Stark Phenotypes for gene: WDR73 were changed from Galloway-Mowat syndrome, 251300 (3) to Galloway-Mowat syndrome 1, MIM# 251300
Prepair 1000+ v1.1797 WDR73 Zornitza Stark Publications for gene: WDR73 were set to
Prepair 1000+ v1.1796 VPS45 Zornitza Stark Marked gene: VPS45 as ready
Prepair 1000+ v1.1796 VPS45 Zornitza Stark Gene: vps45 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1796 VPS45 Zornitza Stark Phenotypes for gene: VPS45 were changed from Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3) to Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285
Prepair 1000+ v1.1795 VPS45 Zornitza Stark Publications for gene: VPS45 were set to
Prepair 1000+ v1.1794 VPS13B Zornitza Stark Marked gene: VPS13B as ready
Prepair 1000+ v1.1794 VPS13B Zornitza Stark Gene: vps13b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1794 VPS13B Zornitza Stark Phenotypes for gene: VPS13B were changed from Cohen syndrome, 216550 (3) to Cohen syndrome, MIM# 216550
Prepair 1000+ v1.1793 VPS13B Zornitza Stark Publications for gene: VPS13B were set to
Prepair 1000+ v1.1792 VARS2 Zornitza Stark Marked gene: VARS2 as ready
Prepair 1000+ v1.1792 VARS2 Zornitza Stark Gene: vars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1792 VARS2 Zornitza Stark Phenotypes for gene: VARS2 were changed from Combined oxidative phosphorylation deficiency 20, 615917 (3) to Combined oxidative phosphorylation deficiency 20 MIM#615917
Prepair 1000+ v1.1791 VARS2 Zornitza Stark Publications for gene: VARS2 were set to
Prepair 1000+ v1.1790 USH2A Zornitza Stark Marked gene: USH2A as ready
Prepair 1000+ v1.1790 USH2A Zornitza Stark Gene: ush2a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1790 USH2A Zornitza Stark Phenotypes for gene: USH2A were changed from Usher syndrome, type 2A, 276901 (3) to Usher syndrome, type 2A, MIM#276901
Prepair 1000+ v1.1789 USH2A Zornitza Stark Publications for gene: USH2A were set to
Prepair 1000+ v1.1788 UFM1 Zornitza Stark Marked gene: UFM1 as ready
Prepair 1000+ v1.1788 UFM1 Zornitza Stark Gene: ufm1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1788 UFM1 Zornitza Stark Phenotypes for gene: UFM1 were changed from Leukodystrophy, hypomyelinating, 14, 617899 (3), Autosomal recessive to Leukodystrophy, hypomyelinating, 14, MIM#617899
Prepair 1000+ v1.1787 UFM1 Zornitza Stark Publications for gene: UFM1 were set to
Prepair 1000+ v1.1786 TYMP Zornitza Stark Marked gene: TYMP as ready
Prepair 1000+ v1.1786 TYMP Zornitza Stark Gene: tymp has been classified as Green List (High Evidence).
Prepair 1000+ v1.1786 TYMP Zornitza Stark Phenotypes for gene: TYMP were changed from Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3) to Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM#603041
Prepair 1000+ v1.1785 TYMP Zornitza Stark Publications for gene: TYMP were set to
Prepair 1000+ v1.1784 TTC7A Zornitza Stark Marked gene: TTC7A as ready
Prepair 1000+ v1.1784 TTC7A Zornitza Stark Gene: ttc7a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1784 TTC7A Zornitza Stark Phenotypes for gene: TTC7A were changed from Gastrointestinal defects and immunodeficiency syndrome, 243150 (3) to Gastrointestinal defects and immunodeficiency syndrome MIM#243150
Prepair 1000+ v1.1783 TTC7A Zornitza Stark Publications for gene: TTC7A were set to
Prepair 1000+ v1.1782 TTC37 Zornitza Stark Marked gene: TTC37 as ready
Prepair 1000+ v1.1782 TTC37 Zornitza Stark Gene: ttc37 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1782 TTC37 Zornitza Stark Phenotypes for gene: TTC37 were changed from Trichohepatoenteric syndrome 1, 222470 (3) to Trichohepatoenteric syndrome 1 MIM#222470
Prepair 1000+ v1.1781 TTC37 Zornitza Stark Publications for gene: TTC37 were set to
Prepair 1000+ v1.1780 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Prepair 1000+ v1.1780 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1780 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from Joubert syndrome 14, 614424 (3) to Joubert syndrome 14, MIM#614424
Prepair 1000+ v1.1779 TMEM237 Zornitza Stark Publications for gene: TMEM237 were set to
Prepair 1000+ v1.1778 TMEM231 Zornitza Stark Marked gene: TMEM231 as ready
Prepair 1000+ v1.1778 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1778 TMEM231 Zornitza Stark Phenotypes for gene: TMEM231 were changed from Joubert syndrome 20, 614970 (3) to Joubert syndrome 20, MIM#614970; Meckel syndrome 11, MIM#615397
Prepair 1000+ v1.1777 TMEM231 Zornitza Stark Publications for gene: TMEM231 were set to
Prepair 1000+ v1.1776 TMEM165 Zornitza Stark Marked gene: TMEM165 as ready
Prepair 1000+ v1.1776 TMEM165 Zornitza Stark Gene: tmem165 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1776 TMEM165 Zornitza Stark Phenotypes for gene: TMEM165 were changed from Congenital disorder of glycosylation, type IIk, 614727 (3) to Congenital disorder of glycosylation, type IIk, MIM#614727
Prepair 1000+ v1.1775 TMEM165 Zornitza Stark Publications for gene: TMEM165 were set to
Prepair 1000+ v1.1774 TJP2 Zornitza Stark Marked gene: TJP2 as ready
Prepair 1000+ v1.1774 TJP2 Zornitza Stark Gene: tjp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1774 TJP2 Zornitza Stark Phenotypes for gene: TJP2 were changed from Cholestasis, progressive familial intrahepatic 4, 615878 (3) to Cholestasis, progressive familial intrahepatic 4, MIM# 615878
Prepair 1000+ v1.1773 TJP2 Zornitza Stark Publications for gene: TJP2 were set to
Prepair 1000+ v1.1772 TCN2 Zornitza Stark Marked gene: TCN2 as ready
Prepair 1000+ v1.1772 TCN2 Zornitza Stark Gene: tcn2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1772 TCN2 Zornitza Stark Phenotypes for gene: TCN2 were changed from Transcobalamin II deficiency, 275350 (3) to Transcobalamin II deficiency MIM#275350
Prepair 1000+ v1.1771 TCN2 Zornitza Stark Publications for gene: TCN2 were set to
Prepair 1000+ v1.1770 TBX19 Zornitza Stark Marked gene: TBX19 as ready
Prepair 1000+ v1.1770 TBX19 Zornitza Stark Gene: tbx19 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1770 TBX19 Zornitza Stark Phenotypes for gene: TBX19 were changed from Adrenocorticotropic hormone deficiency, 201400 (3) to Adrenocorticotropic hormone deficiency, MIM# 201400
Prepair 1000+ v1.1769 TBX19 Zornitza Stark Publications for gene: TBX19 were set to
Prepair 1000+ v1.1768 TBCK Zornitza Stark Marked gene: TBCK as ready
Prepair 1000+ v1.1768 TBCK Zornitza Stark Gene: tbck has been classified as Green List (High Evidence).
Prepair 1000+ v1.1768 TBCK Zornitza Stark Phenotypes for gene: TBCK were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3), Autosomal recessive to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900
Prepair 1000+ v1.1767 TBCK Zornitza Stark Publications for gene: TBCK were set to
Prepair 1000+ v1.1766 STRADA Zornitza Stark Marked gene: STRADA as ready
Prepair 1000+ v1.1766 STRADA Zornitza Stark Gene: strada has been classified as Green List (High Evidence).
Prepair 1000+ v1.1766 STRADA Zornitza Stark Phenotypes for gene: STRADA were changed from Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3), Autosomal recessive to Polyhydramnios, megalencephaly, and symptomatic epilepsy MIM#611087
Prepair 1000+ v1.1765 STRADA Zornitza Stark Publications for gene: STRADA were set to
Prepair 1000+ v1.1764 STAT1 Zornitza Stark Marked gene: STAT1 as ready
Prepair 1000+ v1.1764 STAT1 Zornitza Stark Gene: stat1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1764 STAT1 Zornitza Stark Phenotypes for gene: STAT1 were changed from Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3) to Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796; Immunodeficiency 31B MONDO:0013427
Prepair 1000+ v1.1763 STAT1 Zornitza Stark Publications for gene: STAT1 were set to
Prepair 1000+ v1.1762 ST3GAL5 Zornitza Stark Marked gene: ST3GAL5 as ready
Prepair 1000+ v1.1762 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1762 ST3GAL5 Zornitza Stark Phenotypes for gene: ST3GAL5 were changed from Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive to Salt and pepper developmental regression syndrome, MIM# 609056
Prepair 1000+ v1.1761 ST3GAL5 Zornitza Stark Publications for gene: ST3GAL5 were set to
Prepair 1000+ v1.1760 SSR4 Zornitza Stark Marked gene: SSR4 as ready
Prepair 1000+ v1.1760 SSR4 Zornitza Stark Gene: ssr4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1760 SSR4 Zornitza Stark Phenotypes for gene: SSR4 were changed from Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive to Congenital disorder of glycosylation, type Iy MIM#300934
Prepair 1000+ v1.1759 SSR4 Zornitza Stark Publications for gene: SSR4 were set to
Prepair 1000+ v1.1758 SPINT2 Zornitza Stark Marked gene: SPINT2 as ready
Prepair 1000+ v1.1758 SPINT2 Zornitza Stark Gene: spint2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1758 SPINT2 Zornitza Stark Phenotypes for gene: SPINT2 were changed from Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3) to Diarrhoea 3, secretory sodium, congenital, syndromic, MIM#270420
Prepair 1000+ v1.1757 SPINT2 Zornitza Stark Publications for gene: SPINT2 were set to
Prepair 1000+ v1.1756 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Prepair 1000+ v1.1756 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1756 SPATA5 Zornitza Stark Phenotypes for gene: SPATA5 were changed from Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577
Prepair 1000+ v1.1755 SPATA5 Zornitza Stark Publications for gene: SPATA5 were set to
Prepair 1000+ v1.1754 SMARCAL1 Zornitza Stark Marked gene: SMARCAL1 as ready
Prepair 1000+ v1.1754 SMARCAL1 Zornitza Stark Gene: smarcal1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1754 SMARCAL1 Zornitza Stark Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia, 242900 (3) to Schimke immunoosseous dysplasia, MIM# 242900
Prepair 1000+ v1.1753 SMARCAL1 Zornitza Stark Publications for gene: SMARCAL1 were set to
Prepair 1000+ v1.1752 SLC6A8 Zornitza Stark Marked gene: SLC6A8 as ready
Prepair 1000+ v1.1752 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1752 SLC6A8 Zornitza Stark Phenotypes for gene: SLC6A8 were changed from Cerebral creatine deficiency syndrome 1, 300352 (3) to Cerebral creatine deficiency syndrome 1, MIM#300352
Prepair 1000+ v1.1751 SLC6A8 Zornitza Stark Publications for gene: SLC6A8 were set to
Prepair 1000+ v1.1750 SLC6A5 Zornitza Stark Marked gene: SLC6A5 as ready
Prepair 1000+ v1.1750 SLC6A5 Zornitza Stark Gene: slc6a5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1750 SLC6A5 Zornitza Stark Phenotypes for gene: SLC6A5 were changed from Hyperekplexia 3, 614618 (3) to Hyperekplexia 3 MIM#614618
Prepair 1000+ v1.1749 SLC6A5 Zornitza Stark Publications for gene: SLC6A5 were set to
Prepair 1000+ v1.1748 SLC52A3 Zornitza Stark Marked gene: SLC52A3 as ready
Prepair 1000+ v1.1748 SLC52A3 Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1748 SLC52A3 Zornitza Stark Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1, 211530 (3) to Brown-Vialetto-Van Laere syndrome 1, MIM#211530
Prepair 1000+ v1.1747 SLC52A3 Zornitza Stark Publications for gene: SLC52A3 were set to
Prepair 1000+ v1.1746 SLC52A2 Zornitza Stark Marked gene: SLC52A2 as ready
Prepair 1000+ v1.1746 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1746 SLC52A2 Zornitza Stark Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2, 614707 (3) to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
Prepair 1000+ v1.1745 SLC52A2 Zornitza Stark Publications for gene: SLC52A2 were set to
Prepair 1000+ v1.1744 SLC4A4 Zornitza Stark Marked gene: SLC4A4 as ready
Prepair 1000+ v1.1744 SLC4A4 Zornitza Stark Gene: slc4a4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1744 SLC4A4 Zornitza Stark Phenotypes for gene: SLC4A4 were changed from Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3) to Renal tubular acidosis, proximal, with ocular abnormalities, MIM#604278
Prepair 1000+ v1.1743 SLC4A4 Zornitza Stark Publications for gene: SLC4A4 were set to
Prepair 1000+ v1.1742 SLC4A1 Zornitza Stark Phenotypes for gene: SLC4A1 were changed from Distal renal tubular acidosis 4 with hemolytic anemia, MIM# 611590 to Distal renal tubular acidosis 4 with haemolytic anaemia, MIM# 611590
Prepair 1000+ v1.1741 SLC4A1 Zornitza Stark Marked gene: SLC4A1 as ready
Prepair 1000+ v1.1741 SLC4A1 Zornitza Stark Gene: slc4a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1741 SLC4A1 Zornitza Stark Phenotypes for gene: SLC4A1 were changed from Renal tubular acidosis, distal, AR, 611590 (3) to Distal renal tubular acidosis 4 with hemolytic anemia, MIM# 611590
Prepair 1000+ v1.1740 SLC4A1 Zornitza Stark Publications for gene: SLC4A1 were set to
Prepair 1000+ v1.1739 SLC33A1 Zornitza Stark Marked gene: SLC33A1 as ready
Prepair 1000+ v1.1739 SLC33A1 Zornitza Stark Gene: slc33a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1739 SLC33A1 Zornitza Stark Phenotypes for gene: SLC33A1 were changed from Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3) to Congenital cataracts, hearing loss, and neurodegeneration, MIM#614482
Prepair 1000+ v1.1738 SLC33A1 Zornitza Stark Publications for gene: SLC33A1 were set to
Prepair 1000+ v1.1737 SLC26A3 Zornitza Stark Marked gene: SLC26A3 as ready
Prepair 1000+ v1.1737 SLC26A3 Zornitza Stark Gene: slc26a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1737 SLC26A3 Zornitza Stark Phenotypes for gene: SLC26A3 were changed from Diarrhea 1, secretory chloride, congenital, 214700 (3) to Diarrhoea 1, secretory chloride, congenital MIM#214700
Prepair 1000+ v1.1736 SLC26A3 Zornitza Stark Publications for gene: SLC26A3 were set to
Prepair 1000+ v1.1735 SLC25A13 Zornitza Stark Marked gene: SLC25A13 as ready
Prepair 1000+ v1.1735 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1735 SLC25A13 Zornitza Stark Publications for gene: SLC25A13 were set to
Prepair 1000+ v1.1734 SKIV2L Zornitza Stark Marked gene: SKIV2L as ready
Prepair 1000+ v1.1734 SKIV2L Zornitza Stark Gene: skiv2l has been classified as Green List (High Evidence).
Prepair 1000+ v1.1734 SKIV2L Zornitza Stark Phenotypes for gene: SKIV2L were changed from Trichohepatoenteric syndrome 2, 614602 (3) to Trichohepatoenteric syndrome 2, MIM# 614602
Prepair 1000+ v1.1733 SKIV2L Zornitza Stark Publications for gene: SKIV2L were set to
Prepair 1000+ v1.1732 SIL1 Zornitza Stark Marked gene: SIL1 as ready
Prepair 1000+ v1.1732 SIL1 Zornitza Stark Gene: sil1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1732 SIL1 Zornitza Stark Phenotypes for gene: SIL1 were changed from Marinesco-Sjogren syndrome, 248800 (3) to Marinesco-Sjogren syndrome MIM#248800
Prepair 1000+ v1.1731 SIL1 Zornitza Stark Publications for gene: SIL1 were set to
Prepair 1000+ v1.1730 SERPINH1 Zornitza Stark Marked gene: SERPINH1 as ready
Prepair 1000+ v1.1730 SERPINH1 Zornitza Stark Gene: serpinh1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1730 SERPINH1 Zornitza Stark Phenotypes for gene: SERPINH1 were changed from Orofaciodigital syndrome VI, 277170 (3) to Osteogenesis imperfecta, type X, MIM# 613848; Osteogenesis imperfecta type 10, MONDO:0013459
Prepair 1000+ v1.1729 SERPINH1 Zornitza Stark Publications for gene: SERPINH1 were set to
Prepair 1000+ v1.1728 SEPSECS Zornitza Stark Marked gene: SEPSECS as ready
Prepair 1000+ v1.1728 SEPSECS Zornitza Stark Gene: sepsecs has been classified as Green List (High Evidence).
Prepair 1000+ v1.1728 SEPSECS Zornitza Stark Phenotypes for gene: SEPSECS were changed from Pontocerebellar hypoplasia type 2D, 613811 (3) to Pontocerebellar hypoplasia type 2D, MIM# 613811
Prepair 1000+ v1.1727 SEPSECS Zornitza Stark Publications for gene: SEPSECS were set to
Prepair 1000+ v1.1726 SELENON Zornitza Stark Marked gene: SELENON as ready
Prepair 1000+ v1.1726 SELENON Zornitza Stark Gene: selenon has been classified as Green List (High Evidence).
Prepair 1000+ v1.1726 SELENON Zornitza Stark Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine, 1, 602771 (3) to Congenital myopathy 3 with rigid spine, MIM# 602771
Prepair 1000+ v1.1725 SELENON Zornitza Stark Publications for gene: SELENON were set to
Prepair 1000+ v1.1724 SCNN1A Zornitza Stark Marked gene: SCNN1A as ready
Prepair 1000+ v1.1724 SCNN1A Zornitza Stark Gene: scnn1a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1724 SCNN1A Zornitza Stark Phenotypes for gene: SCNN1A were changed from Pseudohypoaldosteronism, type I, 264350 (3) to Pseudohypoaldosteronism, type IB1, autosomal recessive, MIM# 264350
Prepair 1000+ v1.1723 SCNN1A Zornitza Stark Publications for gene: SCNN1A were set to
Prepair 1000+ v1.1722 RSPH4A Zornitza Stark Marked gene: RSPH4A as ready
Prepair 1000+ v1.1722 RSPH4A Zornitza Stark Gene: rsph4a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1722 RSPH4A Zornitza Stark Phenotypes for gene: RSPH4A were changed from Ciliary dyskinesia, primary, 11, 612649 (3) to Ciliary dyskinesia, primary, 11, MIM# 612649
Prepair 1000+ v1.1721 RSPH4A Zornitza Stark Publications for gene: RSPH4A were set to
Prepair 1000+ v1.1720 PSPH Zornitza Stark Marked gene: PSPH as ready
Prepair 1000+ v1.1720 PSPH Zornitza Stark Gene: psph has been classified as Green List (High Evidence).
Prepair 1000+ v1.1720 PSPH Zornitza Stark Phenotypes for gene: PSPH were changed from Phosphoserine phosphatase deficiency, 614023 (3) to Phosphoserine phosphatase deficiency , MIM# 614023
Prepair 1000+ v1.1719 PSPH Zornitza Stark Publications for gene: PSPH were set to
Prepair 1000+ v1.1718 PPT1 Zornitza Stark Marked gene: PPT1 as ready
Prepair 1000+ v1.1718 PPT1 Zornitza Stark Gene: ppt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1718 PPT1 Zornitza Stark Phenotypes for gene: PPT1 were changed from Ceroid lipofuscinosis, neuronal, 1, 256730 (3) to Ceroid lipofuscinosis, neuronal, 1, MIM# 256730
Prepair 1000+ v1.1717 PPT1 Zornitza Stark Publications for gene: PPT1 were set to
Prepair 1000+ v1.1716 POMK Zornitza Stark Marked gene: POMK as ready
Prepair 1000+ v1.1716 POMK Zornitza Stark Gene: pomk has been classified as Green List (High Evidence).
Prepair 1000+ v1.1716 POMK Zornitza Stark Phenotypes for gene: POMK were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM#615249
Prepair 1000+ v1.1715 POMK Zornitza Stark Publications for gene: POMK were set to
Prepair 1000+ v1.1714 POLR3A Zornitza Stark Marked gene: POLR3A as ready
Prepair 1000+ v1.1714 POLR3A Zornitza Stark Gene: polr3a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1714 POLR3A Zornitza Stark Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3) to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; Wiedemann-Rautenstrauch syndrome, MIM# 264090
Prepair 1000+ v1.1713 POLR3A Zornitza Stark Publications for gene: POLR3A were set to
Prepair 1000+ v1.1712 PLOD1 Zornitza Stark Marked gene: PLOD1 as ready
Prepair 1000+ v1.1712 PLOD1 Zornitza Stark Gene: plod1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1712 PLOD1 Zornitza Stark Phenotypes for gene: PLOD1 were changed from Ehlers-Danlos syndrome, type VI, 225400 (3) to Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM# 225400
Prepair 1000+ v1.1711 PLOD1 Zornitza Stark Publications for gene: PLOD1 were set to
Prepair 1000+ v1.1710 PLEC Zornitza Stark Marked gene: PLEC as ready
Prepair 1000+ v1.1710 PLEC Zornitza Stark Gene: plec has been classified as Green List (High Evidence).
Prepair 1000+ v1.1710 PLEC Zornitza Stark Phenotypes for gene: PLEC were changed from Epidermolysis bullosa simplex with pyloric atresia, 612138 (3) to Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive, MIM# 616487; Epidermolysis bullosa simplex 5B, with muscular dystrophy, MIM# 226670; Epidermolysis bullosa simplex 5C, with pyloric atresia MIM# 612138; Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723
Prepair 1000+ v1.1709 PLEC Zornitza Stark Publications for gene: PLEC were set to
Prepair 1000+ v1.1708 PFKM Zornitza Stark Marked gene: PFKM as ready
Prepair 1000+ v1.1708 PFKM Zornitza Stark Gene: pfkm has been classified as Green List (High Evidence).
Prepair 1000+ v1.1708 PFKM Zornitza Stark Phenotypes for gene: PFKM were changed from Glycogen storage disease VII, 232800 (3) to Glycogen storage disease VII MIM#232800
Prepair 1000+ v1.1707 PFKM Zornitza Stark Publications for gene: PFKM were set to
Prepair 1000+ v1.1706 PEX6 Zornitza Stark Marked gene: PEX6 as ready
Prepair 1000+ v1.1706 PEX6 Zornitza Stark Gene: pex6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1706 PEX6 Zornitza Stark Phenotypes for gene: PEX6 were changed from Peroxisome biogenesis disorder 4A (Zellweger), 614862 to Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862; Peroxisome biogenesis disorder-4B, MIM# 614863
Prepair 1000+ v1.1705 PEX6 Zornitza Stark Publications for gene: PEX6 were set to
Prepair 1000+ v1.1704 PEX13 Zornitza Stark Marked gene: PEX13 as ready
Prepair 1000+ v1.1704 PEX13 Zornitza Stark Gene: pex13 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1704 PEX13 Zornitza Stark Phenotypes for gene: PEX13 were changed from Peroxisome biogenesis disorder 11A (Zellweger), 614883 to Peroxisome biogenesis disorder 11A (Zellweger), MIM#614883; Peroxisome biogenesis disorder 11B, MIM#614885
Prepair 1000+ v1.1703 PEX12 Zornitza Stark Marked gene: PEX12 as ready
Prepair 1000+ v1.1703 PEX12 Zornitza Stark Gene: pex12 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1703 PEX12 Zornitza Stark Phenotypes for gene: PEX12 were changed from Peroxisome biogenesis disorder 3A (Zellweger), 614859 to Peroxisome biogenesis disorder 3A (Zellweger), MIM#614859; Peroxisome biogenesis disorder 3B, MIM#266510
Prepair 1000+ v1.1702 PEPD Zornitza Stark Marked gene: PEPD as ready
Prepair 1000+ v1.1702 PEPD Zornitza Stark Gene: pepd has been classified as Green List (High Evidence).
Prepair 1000+ v1.1702 PEPD Zornitza Stark Phenotypes for gene: PEPD were changed from Prolidase deficiency, 170100 (3) to Prolidase deficiency, MIM# 170100
Prepair 1000+ v1.1701 PEPD Zornitza Stark Publications for gene: PEPD were set to
Prepair 1000+ v1.1700 P3H1 Zornitza Stark Marked gene: P3H1 as ready
Prepair 1000+ v1.1700 P3H1 Zornitza Stark Gene: p3h1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1700 P3H1 Zornitza Stark Phenotypes for gene: P3H1 were changed from Osteogenesis imperfecta, type VIII, 610915 (3) to Osteogenesis imperfecta, type VIII, MIM#610915
Prepair 1000+ v1.1699 P3H1 Zornitza Stark Publications for gene: P3H1 were set to
Prepair 1000+ v1.1698 OTC Zornitza Stark Marked gene: OTC as ready
Prepair 1000+ v1.1698 OTC Zornitza Stark Gene: otc has been classified as Green List (High Evidence).
Prepair 1000+ v1.1698 OTC Zornitza Stark Phenotypes for gene: OTC were changed from Ornithine transcarbamylase deficiency, 311250 (3) to Ornithine transcarbamylase deficiency, MIM# 311250
Prepair 1000+ v1.1697 OTC Zornitza Stark Publications for gene: OTC were set to
Prepair 1000+ v1.1696 ORC6 Zornitza Stark Marked gene: ORC6 as ready
Prepair 1000+ v1.1696 ORC6 Zornitza Stark Gene: orc6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1696 ORC6 Zornitza Stark Phenotypes for gene: ORC6 were changed from Meier-Gorlin syndrome 3, 613803 (3) to Meier-Gorlin syndrome 3 MIM#613803
Prepair 1000+ v1.1695 ORC6 Zornitza Stark Publications for gene: ORC6 were set to
Prepair 1000+ v1.1694 ORAI1 Zornitza Stark Marked gene: ORAI1 as ready
Prepair 1000+ v1.1694 ORAI1 Zornitza Stark Gene: orai1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1694 ORAI1 Zornitza Stark Phenotypes for gene: ORAI1 were changed from Immunodeficiency 9, 612782 (3) to Immunodeficiency 9, MIM#612782; Myopathy, tubular aggregate, 2, MIM#615883
Prepair 1000+ v1.1693 ORAI1 Zornitza Stark Publications for gene: ORAI1 were set to
Prepair 1000+ v1.1692 OPHN1 Zornitza Stark Marked gene: OPHN1 as ready
Prepair 1000+ v1.1692 OPHN1 Zornitza Stark Gene: ophn1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1692 OPHN1 Zornitza Stark Phenotypes for gene: OPHN1 were changed from Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3) to Intellectual developmental disorder, X-linked syndromic, Billuart type MIM#300486; X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0010337
Prepair 1000+ v1.1691 OPHN1 Zornitza Stark Publications for gene: OPHN1 were set to
Prepair 1000+ v1.1690 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Prepair 1000+ v1.1690 OFD1 Zornitza Stark Gene: ofd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1690 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from Joubert syndrome 10, 300804 (3) to Joubert syndrome 10 MIM#300804; Simpson-Golabi-Behmel syndrome, type 2 MIM#300209
Prepair 1000+ v1.1689 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Prepair 1000+ v1.1688 NYX Zornitza Stark Marked gene: NYX as ready
Prepair 1000+ v1.1688 NYX Zornitza Stark Gene: nyx has been classified as Green List (High Evidence).
Prepair 1000+ v1.1688 NYX Zornitza Stark Phenotypes for gene: NYX were changed from Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500 to Night blindness, congenital stationary (complete), 1A, X-linked MIM310500
Prepair 1000+ v1.1687 NYX Zornitza Stark Publications for gene: NYX were set to
Prepair 1000+ v1.1686 NT5C2 Zornitza Stark Marked gene: NT5C2 as ready
Prepair 1000+ v1.1686 NT5C2 Zornitza Stark Gene: nt5c2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1686 NT5C2 Zornitza Stark Phenotypes for gene: NT5C2 were changed from Spastic paraplegia 45, 613162 (3) to Spastic paraplegia 45, autosomal recessive, MIM# 613162
Prepair 1000+ v1.1685 NT5C2 Zornitza Stark Publications for gene: NT5C2 were set to
Prepair 1000+ v1.1684 NSUN2 Zornitza Stark Marked gene: NSUN2 as ready
Prepair 1000+ v1.1684 NSUN2 Zornitza Stark Gene: nsun2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1684 NSUN2 Zornitza Stark Phenotypes for gene: NSUN2 were changed from Mental retardation, autosomal recessive 5, 611091 (3) to Intellectual developmental disorder, autosomal recessive 5, MIM# 611091
Prepair 1000+ v1.1683 NSUN2 Zornitza Stark Publications for gene: NSUN2 were set to
Prepair 1000+ v1.1682 NPHS2 Zornitza Stark Marked gene: NPHS2 as ready
Prepair 1000+ v1.1682 NPHS2 Zornitza Stark Gene: nphs2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1682 NPHS2 Zornitza Stark Phenotypes for gene: NPHS2 were changed from Nephrotic syndrome, type 2, 600995 (3) to Nephrotic syndrome, type 2 MIM#600995
Prepair 1000+ v1.1681 NPHS2 Zornitza Stark Publications for gene: NPHS2 were set to
Prepair 1000+ v1.1680 NIPAL4 Zornitza Stark Marked gene: NIPAL4 as ready
Prepair 1000+ v1.1680 NIPAL4 Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1680 NIPAL4 Zornitza Stark Phenotypes for gene: NIPAL4 were changed from Ichthyosis, congenital, autosomal recessive 6, 612281 (3) to Ichthyosis, congenital, autosomal recessive 6 MIM#612281
Prepair 1000+ v1.1679 NIPAL4 Zornitza Stark Publications for gene: NIPAL4 were set to
Prepair 1000+ v1.1678 NHS Zornitza Stark Marked gene: NHS as ready
Prepair 1000+ v1.1678 NHS Zornitza Stark Gene: nhs has been classified as Green List (High Evidence).
Prepair 1000+ v1.1678 NHS Zornitza Stark Phenotypes for gene: NHS were changed from Cataract 40, X-linked, 302200 (3) to Nance-Horan syndrome MIM#302350
Prepair 1000+ v1.1677 NHS Zornitza Stark Publications for gene: NHS were set to
Prepair 1000+ v1.1676 NHS Zornitza Stark reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nance-Horan syndrome MIM#302350; Mode of inheritance: None
Prepair 1000+ v1.1676 NEK8 Zornitza Stark Marked gene: NEK8 as ready
Prepair 1000+ v1.1676 NEK8 Zornitza Stark Gene: nek8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1676 NEK8 Zornitza Stark Phenotypes for gene: NEK8 were changed from Renal-hepatic-pancreatic dysplasia 2, 615415 (3), Autosomal recessive to Renal-hepatic-pancreatic dysplasia 2 MIM#615415
Prepair 1000+ v1.1675 NEK8 Zornitza Stark Publications for gene: NEK8 were set to
Prepair 1000+ v1.1674 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Prepair 1000+ v1.1674 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1674 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 5, MIM#618226
Prepair 1000+ v1.1673 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to
Prepair 1000+ v1.1672 NAXE Zornitza Stark Marked gene: NAXE as ready
Prepair 1000+ v1.1672 NAXE Zornitza Stark Gene: naxe has been classified as Green List (High Evidence).
Prepair 1000+ v1.1672 NAXE Zornitza Stark Phenotypes for gene: NAXE were changed from Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3), Autosomal recessive to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM #617186
Prepair 1000+ v1.1671 NAXE Zornitza Stark Publications for gene: NAXE were set to
Prepair 1000+ v1.1670 MPLKIP Zornitza Stark Marked gene: MPLKIP as ready
Prepair 1000+ v1.1670 MPLKIP Zornitza Stark Gene: mplkip has been classified as Green List (High Evidence).
Prepair 1000+ v1.1670 MPLKIP Zornitza Stark Phenotypes for gene: MPLKIP were changed from Trichothiodystrophy 4, nonphotosensitive, 234050 (3) to Trichothiodystrophy 4, nonphotosensitive MIM#234050
Prepair 1000+ v1.1669 MPLKIP Zornitza Stark Publications for gene: MPLKIP were set to
Prepair 1000+ v1.1668 MMAB Zornitza Stark Marked gene: MMAB as ready
Prepair 1000+ v1.1668 MMAB Zornitza Stark Gene: mmab has been classified as Green List (High Evidence).
Prepair 1000+ v1.1668 MMAB Zornitza Stark Phenotypes for gene: MMAB were changed from Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3) to Methylmalonic aciduria, vitamin B12-responsive, cblB type MIM#251110
Prepair 1000+ v1.1667 MMAB Zornitza Stark Publications for gene: MMAB were set to
Prepair 1000+ v1.1666 MGAT2 Zornitza Stark Marked gene: MGAT2 as ready
Prepair 1000+ v1.1666 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1666 MGAT2 Zornitza Stark Phenotypes for gene: MGAT2 were changed from Congenital disorder of glycosylation, type IIa, 212066 (3) to Congenital disorder of glycosylation, type IIa MIM#212066
Prepair 1000+ v1.1665 MGAT2 Zornitza Stark Publications for gene: MGAT2 were set to
Prepair 1000+ v1.1664 MCFD2 Zornitza Stark Marked gene: MCFD2 as ready
Prepair 1000+ v1.1664 MCFD2 Zornitza Stark Gene: mcfd2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1664 MCFD2 Zornitza Stark Phenotypes for gene: MCFD2 were changed from Factor V and factor VIII, combined deficiency of, 613625 (3) to Factor V and factor VIII, combined deficiency of MIM#613625
Prepair 1000+ v1.1663 MCFD2 Zornitza Stark Publications for gene: MCFD2 were set to
Prepair 1000+ v1.1662 MCFD2 Zornitza Stark reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V and factor VIII, combined deficiency of MIM#613625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1662 MALT1 Zornitza Stark Marked gene: MALT1 as ready
Prepair 1000+ v1.1662 MALT1 Zornitza Stark Gene: malt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1662 MALT1 Zornitza Stark Phenotypes for gene: MALT1 were changed from Immunodeficiency 12, 615468 (3) to Immunodeficiency 12 MIM#615468
Prepair 1000+ v1.1661 MALT1 Zornitza Stark Publications for gene: MALT1 were set to
Prepair 1000+ v1.1660 LTBP4 Zornitza Stark Marked gene: LTBP4 as ready
Prepair 1000+ v1.1660 LTBP4 Zornitza Stark Gene: ltbp4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1660 LTBP4 Zornitza Stark Phenotypes for gene: LTBP4 were changed from Cutis laxa, autosomal recessive, type IC, 613177 (3) to Cutis laxa, autosomal recessive, type IC, #613177
Prepair 1000+ v1.1659 LTBP4 Zornitza Stark Publications for gene: LTBP4 were set to
Prepair 1000+ v1.1658 LTBP3 Zornitza Stark Marked gene: LTBP3 as ready
Prepair 1000+ v1.1658 LTBP3 Zornitza Stark Gene: ltbp3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1658 LTBP3 Zornitza Stark Phenotypes for gene: LTBP3 were changed from Tooth agenesis, selective, 6, 613097 (3) to Dental anomalies and short stature, MIM #601216
Prepair 1000+ v1.1657 LTBP3 Zornitza Stark Publications for gene: LTBP3 were set to
Prepair 1000+ v1.1656 LRP5 Zornitza Stark Marked gene: LRP5 as ready
Prepair 1000+ v1.1656 LRP5 Zornitza Stark Added comment: Comment when marking as ready: Prepair only screens for recessive conditions.
Prepair 1000+ v1.1656 LRP5 Zornitza Stark Gene: lrp5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1656 LRP5 Zornitza Stark Phenotypes for gene: LRP5 were changed from Osteoporosis-pseudoglioma syndrome, 259770 (3) to Exudative vitreoretinopathy 4 MIM#601813; Osteoporosis-pseudoglioma syndrome MIM#259770
Prepair 1000+ v1.1655 LRP5 Zornitza Stark Publications for gene: LRP5 were set to
Prepair 1000+ v1.1654 LRP2 Zornitza Stark Marked gene: LRP2 as ready
Prepair 1000+ v1.1654 LRP2 Zornitza Stark Gene: lrp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1654 LRP2 Zornitza Stark Phenotypes for gene: LRP2 were changed from Donnai-Barrow syndrome, 222448 (3) to Donnai-Barrow syndrome, MIM #222448
Prepair 1000+ v1.1653 LRP2 Zornitza Stark Publications for gene: LRP2 were set to
Prepair 1000+ v1.1652 LRIG2 Zornitza Stark Marked gene: LRIG2 as ready
Prepair 1000+ v1.1652 LRIG2 Zornitza Stark Gene: lrig2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1652 LRIG2 Zornitza Stark Phenotypes for gene: LRIG2 were changed from Urofacial syndrome 2, 615112 (3) to Urofacial syndrome 2, MIM #615112
Prepair 1000+ v1.1651 LRIG2 Zornitza Stark Publications for gene: LRIG2 were set to
Prepair 1000+ v1.1650 LIPT1 Zornitza Stark Marked gene: LIPT1 as ready
Prepair 1000+ v1.1650 LIPT1 Zornitza Stark Gene: lipt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1650 LIPT1 Zornitza Stark Phenotypes for gene: LIPT1 were changed from Lipoyltransferase 1 deficiency, 616299 (3) to Lipoyltransferase 1 deficiency, MIM#616299
Prepair 1000+ v1.1649 LIPT1 Zornitza Stark Publications for gene: LIPT1 were set to
Prepair 1000+ v1.1648 LIPT1 Zornitza Stark reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681092; Phenotypes: Lipoyltransferase 1 deficiency, MIM#616299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1648 LAMB3 Zornitza Stark Marked gene: LAMB3 as ready
Prepair 1000+ v1.1648 LAMB3 Zornitza Stark Gene: lamb3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1648 LAMB3 Zornitza Stark Phenotypes for gene: LAMB3 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) to Epidermolysis bullosa, junctional 1A, intermediate MIM#226650; Epidermolysis bullosa, junctional 1B, severe MIM#226700
Prepair 1000+ v1.1647 LAMB3 Zornitza Stark Publications for gene: LAMB3 were set to
Prepair 1000+ v1.1646 LAMA3 Zornitza Stark Marked gene: LAMA3 as ready
Prepair 1000+ v1.1646 LAMA3 Zornitza Stark Gene: lama3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1646 LAMA3 Zornitza Stark Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) to Epidermolysis bullosa, junctional 2B, severe (MIM#619784); 3. Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous (MIM#245660); Epidermolysis bullosa, junctional 2A, intermediate (MIM#619783)
Prepair 1000+ v1.1645 LAMA3 Zornitza Stark Publications for gene: LAMA3 were set to
Prepair 1000+ v1.1644 LAMA1 Zornitza Stark Marked gene: LAMA1 as ready
Prepair 1000+ v1.1644 LAMA1 Zornitza Stark Gene: lama1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1644 LAMA1 Zornitza Stark Phenotypes for gene: LAMA1 were changed from Poretti-Boltshauser syndrome, 615960 (3) to Poretti-Boltshauser syndrome, MIM #615960
Prepair 1000+ v1.1643 LAMA1 Zornitza Stark Publications for gene: LAMA1 were set to
Prepair 1000+ v1.1642 KLHL40 Zornitza Stark Marked gene: KLHL40 as ready
Prepair 1000+ v1.1642 KLHL40 Zornitza Stark Gene: klhl40 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1642 KLHL40 Zornitza Stark Phenotypes for gene: KLHL40 were changed from Nemaline myopathy 8, autosomal recessive, 615348 (3) to Nemaline myopathy 8, autosomal recessive MIM#615348
Prepair 1000+ v1.1641 KLHL40 Zornitza Stark Publications for gene: KLHL40 were set to
Prepair 1000+ v1.1640 JAM3 Zornitza Stark Marked gene: JAM3 as ready
Prepair 1000+ v1.1640 JAM3 Zornitza Stark Gene: jam3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1640 JAM3 Zornitza Stark Phenotypes for gene: JAM3 were changed from Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3) to Haemorrhagic destruction of the brain, subependymal calcification, and cataracts MIM#613730
Prepair 1000+ v1.1639 JAM3 Zornitza Stark Publications for gene: JAM3 were set to
Prepair 1000+ v1.1638 IVD Zornitza Stark Marked gene: IVD as ready
Prepair 1000+ v1.1638 IVD Zornitza Stark Gene: ivd has been classified as Green List (High Evidence).
Prepair 1000+ v1.1638 IVD Zornitza Stark Phenotypes for gene: IVD were changed from Isovaleric acidemia, 243500 (3) to Isovaleric acidemia, MIM #243500
Prepair 1000+ v1.1637 IVD Zornitza Stark Publications for gene: IVD were set to
Prepair 1000+ v1.1636 IQCB1 Zornitza Stark Marked gene: IQCB1 as ready
Prepair 1000+ v1.1636 IQCB1 Zornitza Stark Gene: iqcb1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1636 IQCB1 Zornitza Stark Phenotypes for gene: IQCB1 were changed from Senior-Loken syndrome 5, 609254 (3) to Senior-Loken syndrome 5 MIM#609254
Prepair 1000+ v1.1635 IQCB1 Zornitza Stark Publications for gene: IQCB1 were set to
Prepair 1000+ v1.1634 INSR Zornitza Stark Marked gene: INSR as ready
Prepair 1000+ v1.1634 INSR Zornitza Stark Gene: insr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1634 INSR Zornitza Stark Phenotypes for gene: INSR were changed from Leprechaunism, 246200 (3) to Donohue syndrome MIM#246200; Rabson-Mendenhall syndrome MIM#262190
Prepair 1000+ v1.1633 INSR Zornitza Stark Publications for gene: INSR were set to
Prepair 1000+ v1.1632 IFNGR1 Zornitza Stark Marked gene: IFNGR1 as ready
Prepair 1000+ v1.1632 IFNGR1 Zornitza Stark Gene: ifngr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1632 IFNGR1 Zornitza Stark Phenotypes for gene: IFNGR1 were changed from Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3) to Immunodeficiency 27A, mycobacteriosis, MIM#209950
Prepair 1000+ v1.1631 IFNGR1 Zornitza Stark Publications for gene: IFNGR1 were set to
Prepair 1000+ v1.1630 IER3IP1 Zornitza Stark Marked gene: IER3IP1 as ready
Prepair 1000+ v1.1630 IER3IP1 Zornitza Stark Gene: ier3ip1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1630 IER3IP1 Zornitza Stark Phenotypes for gene: IER3IP1 were changed from Microcephaly, epilepsy, and diabetes syndrome, 614231 (3) to Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231
Prepair 1000+ v1.1629 HPD Zornitza Stark Marked gene: HPD as ready
Prepair 1000+ v1.1629 HPD Zornitza Stark Gene: hpd has been classified as Green List (High Evidence).
Prepair 1000+ v1.1629 HPD Zornitza Stark Phenotypes for gene: HPD were changed from Tyrosinemia, type III, 276710 (3) to Tyrosinemia, type III, MIM#276710
Prepair 1000+ v1.1628 HPD Zornitza Stark Publications for gene: HPD were set to
Prepair 1000+ v1.1627 HPD Zornitza Stark reviewed gene: HPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 29456978; Phenotypes: Tyrosinemia, type III, MIM#276710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1627 HMGCL Zornitza Stark Marked gene: HMGCL as ready
Prepair 1000+ v1.1627 HMGCL Zornitza Stark Gene: hmgcl has been classified as Green List (High Evidence).
Prepair 1000+ v1.1627 HMGCL Zornitza Stark Phenotypes for gene: HMGCL were changed from HMG-CoA lyase deficiency, 246450 (3) to HMG-CoA lyase deficiency, MIM# 246450
Prepair 1000+ v1.1626 HBB Zornitza Stark Tag for review tag was added to gene: HBB.
Prepair 1000+ v1.1626 HADHA Zornitza Stark Marked gene: HADHA as ready
Prepair 1000+ v1.1626 HADHA Zornitza Stark Gene: hadha has been classified as Green List (High Evidence).
Prepair 1000+ v1.1626 HADHA Zornitza Stark Phenotypes for gene: HADHA were changed from Fatty liver, acute, of pregnancy, 609016 (3) to LCHAD deficiency MIM#609016; Mitochondrial trifunctional protein deficiency 1 MIM#609015
Prepair 1000+ v1.1625 GTPBP3 Zornitza Stark Marked gene: GTPBP3 as ready
Prepair 1000+ v1.1625 GTPBP3 Zornitza Stark Gene: gtpbp3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1625 GTPBP3 Zornitza Stark Phenotypes for gene: GTPBP3 were changed from Combined oxidative phosphorylation deficiency 23, 616198 (3) to Combined oxidative phosphorylation deficiency 23 MIM#616198
Prepair 1000+ v1.1624 GTPBP3 Zornitza Stark Publications for gene: GTPBP3 were set to
Prepair 1000+ v1.1623 GNPTG Zornitza Stark Marked gene: GNPTG as ready
Prepair 1000+ v1.1623 GNPTG Zornitza Stark Gene: gnptg has been classified as Green List (High Evidence).
Prepair 1000+ v1.1623 GNPTG Zornitza Stark Phenotypes for gene: GNPTG were changed from Mucolipidosis III gamma, 252605 (3) to Mucolipidosis III gamma, MIM# 252605
Prepair 1000+ v1.1622 GNPTG Zornitza Stark Publications for gene: GNPTG were set to
Prepair 1000+ v1.1621 GLE1 Zornitza Stark Marked gene: GLE1 as ready
Prepair 1000+ v1.1621 GLE1 Zornitza Stark Gene: gle1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1621 GLE1 Zornitza Stark Phenotypes for gene: GLE1 were changed from Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3) to Congenital arthrogryposis with anterior horn cell disease, MIM #611890; Lethal congenital contracture syndrome 1, MIM #253310
Prepair 1000+ v1.1620 GLE1 Zornitza Stark Publications for gene: GLE1 were set to
Prepair 1000+ v1.1619 GDI1 Zornitza Stark Marked gene: GDI1 as ready
Prepair 1000+ v1.1619 GDI1 Zornitza Stark Gene: gdi1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1619 GDI1 Zornitza Stark Phenotypes for gene: GDI1 were changed from Mental retardation, X-linked 41, 300849 (3) to Intellectual developmental disorder, X-linked 41, MIM #300849
Prepair 1000+ v1.1618 GDI1 Zornitza Stark Publications for gene: GDI1 were set to
Prepair 1000+ v1.1617 GDF1 Zornitza Stark Marked gene: GDF1 as ready
Prepair 1000+ v1.1617 GDF1 Zornitza Stark Gene: gdf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1617 GDF1 Zornitza Stark Publications for gene: GDF1 were set to
Prepair 1000+ v1.1616 GDF1 Zornitza Stark Phenotypes for gene: GDF1 were changed from Right atrial isomerism, 208530 (3) to Congenital heart defects, multiple types, 6 MIM#613854; Right atrial isomerism (Ivemark), MIM #208530
Prepair 1000+ v1.1615 GDAP1 Zornitza Stark Marked gene: GDAP1 as ready
Prepair 1000+ v1.1615 GDAP1 Zornitza Stark Gene: gdap1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1615 GDAP1 Zornitza Stark Phenotypes for gene: GDAP1 were changed from Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3) to Charcot-Marie-Tooth disease, axonal, type 2K, MIM #607831; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM #607706; Charcot-Marie-Tooth disease, recessive intermediate, A, MIM #608340; Charcot-Marie-Tooth disease, type 4A, MIM#214400
Prepair 1000+ v1.1614 GDAP1 Zornitza Stark Publications for gene: GDAP1 were set to
Prepair 1000+ v1.1613 GAS8 Zornitza Stark Marked gene: GAS8 as ready
Prepair 1000+ v1.1613 GAS8 Zornitza Stark Gene: gas8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1613 GAS8 Zornitza Stark Phenotypes for gene: GAS8 were changed from Ciliary dyskinesia, primary, 33, 616726 (3), Autosomal recessive to Ciliary dyskinesia, primary, 33 MIM#616726
Prepair 1000+ v1.1612 GAS8 Zornitza Stark Publications for gene: GAS8 were set to
Prepair 1000+ v1.1611 TTC21B Kate Scarff changed review comment from: Short-rib thoracic dysplasia (SRTD) with or without polydactyly is a skeletal ciliopathy characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present. Nonskeletal involvement can include cleft lip/palate as well as anomalies of the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life.
Homozygous null alleles in Ttc21b are embryonic lethal in mice and it is likely that biallelic truncating null variants are equally incompatible with survival in humans.

Nephronophthisis 12: End stage kidney disease seen in multiple unrelated children <10 years. Patients harboring one truncating or splice site mutation in addition to a missense variant exhibit JATD or early onset NPHP with extra-renal features, whereas patients carrying homozygous p.Pro209Leu variants display a primarily kidney phenotype with NPHP and often with glomerular involvement (FSGS). However, liver and skeletal involvement as well as high myopia have also been described in patients with biallelic missense variants, including homozygous p.Pro209Leu carriers.; to: Short-rib thoracic dysplasia (SRTD) with or without polydactyly is a skeletal ciliopathy characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present. Nonskeletal involvement can include cleft lip/palate as well as anomalies of the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life.
Homozygous null alleles in Ttc21b are embryonic lethal in mice and it is likely that biallelic truncating null variants are equally incompatible with survival in humans.

Nephronophthisis 12: End stage kidney disease seen in multiple unrelated children <10 years. Patients harboring one truncating or splice site mutation in addition to a missense variant exhibit SRTD or early onset NPHP with extra-renal features, whereas patients carrying homozygous p.Pro209Leu variants display a primarily kidney phenotype with NPHP and often with glomerular involvement (FSGS). However, liver and skeletal involvement as well as high myopia have also been described in patients with biallelic missense variants, including homozygous p.Pro209Leu carriers.
Prepair 1000+ v1.1611 TTC21B Kate Scarff edited their review of gene: TTC21B: Changed phenotypes: Short-rib thoracic dysplasia 4 with or without polydactyly, MIM #613819, Nephronophthisis 12, MIM #613820
Prepair 1000+ v1.1611 TTC21B Kate Scarff changed review comment from: Short-rib thoracic dysplasia (SRTD) with or without polydactyly is a skeletal ciliopathy characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present. Nonskeletal involvement can include cleft lip/palate as well as anomalies of the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life.
Homozygous null alleles in Ttc21b are embryonic lethal in mice and it is likely that biallelic truncating null variants are equally incompatible with survival in humans.; to: Short-rib thoracic dysplasia (SRTD) with or without polydactyly is a skeletal ciliopathy characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present. Nonskeletal involvement can include cleft lip/palate as well as anomalies of the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life.
Homozygous null alleles in Ttc21b are embryonic lethal in mice and it is likely that biallelic truncating null variants are equally incompatible with survival in humans.

Nephronophthisis 12: End stage kidney disease seen in multiple unrelated children <10 years. Patients harboring one truncating or splice site mutation in addition to a missense variant exhibit JATD or early onset NPHP with extra-renal features, whereas patients carrying homozygous p.Pro209Leu variants display a primarily kidney phenotype with NPHP and often with glomerular involvement (FSGS). However, liver and skeletal involvement as well as high myopia have also been described in patients with biallelic missense variants, including homozygous p.Pro209Leu carriers.
Prepair 1000+ v1.1611 TRIP11 Kate Scarff edited their review of gene: TRIP11: Changed phenotypes: Achondrogenesis, type IA, MIM #200600, Odontochondrodysplasia 1, MIM #184260
Prepair 1000+ v1.1611 DBR1 Lilian Downie Marked gene: DBR1 as ready
Prepair 1000+ v1.1611 DBR1 Lilian Downie Added comment: Comment when marking as ready: Green for the immune condition in OMIM Xerosis and growth failure with immune and pulmonary dysfunction syndrome MIM#620510 although evidence is from a single paper but includes 4 unrelated families, 2 papers regarding encephalopathy, again enough evidence for inclusion >3 unrelated families.

UPGRADE TO GREEN
Prepair 1000+ v1.1611 DBR1 Lilian Downie Gene: dbr1 has been removed from the panel.
Prepair 1000+ v1.1611 AMN Lilian Downie Marked gene: AMN as ready
Prepair 1000+ v1.1611 AMN Lilian Downie Added comment: Comment when marking as ready: Treatable disorder with good outcomes
Prepair 1000+ v1.1611 AMN Lilian Downie Gene: amn has been removed from the panel.
Prepair 1000+ v1.1611 AMN Lilian Downie Publications for gene: AMN were set to
Prepair 1000+ v1.1610 ERCC5 Lilian Downie Marked gene: ERCC5 as ready
Prepair 1000+ v1.1610 ERCC5 Lilian Downie Gene: ercc5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1610 ERCC5 Lilian Downie Phenotypes for gene: ERCC5 were changed from Xeroderma pigmentosum, group G, 278780 (3) to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216
Prepair 1000+ v1.1609 ERCC5 Lilian Downie Publications for gene: ERCC5 were set to
Prepair 1000+ v1.1608 FAH Lilian Downie Marked gene: FAH as ready
Prepair 1000+ v1.1608 FAH Lilian Downie Gene: fah has been classified as Green List (High Evidence).
Prepair 1000+ v1.1608 FAH Lilian Downie Publications for gene: FAH were set to