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Genomic newborn screening: BabyScreen+ v2.0 CTU2 Gene migrated from ENSG00000174177 to ENSG00000174177 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SNAP29 Gene migrated from ENSG00000099940 to ENSG00000099940 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SMO Gene migrated from ENSG00000128602 to ENSG00000128602 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC35A1 Gene migrated from ENSG00000164414 to ENSG00000164414 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC33A1 Gene migrated from ENSG00000169359 to ENSG00000169359 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC27A5 Gene migrated from ENSG00000083807 to ENSG00000083807 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC25A22 Gene migrated from ENSG00000177542 to ENSG00000177542 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC25A12 Gene migrated from ENSG00000115840 to ENSG00000115840 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC16A12 Gene migrated from ENSG00000152779 to ENSG00000152779 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC12A5 Gene migrated from ENSG00000124140 to ENSG00000124140 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC11A2 Gene migrated from ENSG00000110911 to ENSG00000110911 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RANGRF Gene migrated from ENSG00000108961 to ENSG00000108961 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RAD51B Gene migrated from ENSG00000182185 to ENSG00000182185 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RAB10 Gene migrated from ENSG00000084733 to ENSG00000084733 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PSEN2 Gene migrated from ENSG00000143801 to ENSG00000143801 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PSEN1 Gene migrated from ENSG00000080815 to ENSG00000080815 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PSAT1 Gene migrated from ENSG00000135069 to ENSG00000135069 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PRRX1 Gene migrated from ENSG00000116132 to ENSG00000116132 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PRPS1 Gene migrated from ENSG00000147224 to ENSG00000147224 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PRODH Gene migrated from ENSG00000100033 to ENSG00000100033 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PRKCSH Gene migrated from ENSG00000130175 to ENSG00000130175 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PNPLA1 Gene migrated from ENSG00000180316 to ENSG00000180316 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PLN Gene migrated from ENSG00000198523 to ENSG00000198523 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PHOX2A Gene migrated from ENSG00000165462 to ENSG00000165462 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PHKA1 Gene migrated from ENSG00000067177 to ENSG00000067177 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PEX19 Gene migrated from ENSG00000162735 to ENSG00000162735 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PEX16 Gene migrated from ENSG00000121680 to ENSG00000121680 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PEX14 Gene migrated from ENSG00000142655 to ENSG00000142655 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PEX11B Gene migrated from ENSG00000131779 to ENSG00000131779 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PDSS2 Gene migrated from ENSG00000164494 to ENSG00000164494 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PDSS1 Gene migrated from ENSG00000148459 to ENSG00000148459 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NUB1 Gene migrated from ENSG00000013374 to ENSG00000013374 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NSDHL Gene migrated from ENSG00000147383 to ENSG00000147383 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NRXN1 Gene migrated from ENSG00000179915 to ENSG00000179915 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NRG1 Gene migrated from ENSG00000157168 to ENSG00000157168 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NR1H4 Gene migrated from ENSG00000012504 to ENSG00000012504 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NPPA Gene migrated from ENSG00000175206 to ENSG00000175206 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NOTCH1 Gene migrated from ENSG00000148400 to ENSG00000148400 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NOP10 Gene migrated from ENSG00000182117 to ENSG00000182117 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NME8 Gene migrated from ENSG00000086288 to ENSG00000086288 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NLRP7 Gene migrated from ENSG00000167634 to ENSG00000167634 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYPN Gene migrated from ENSG00000138347 to ENSG00000138347 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYOZ2 Gene migrated from ENSG00000172399 to ENSG00000172399 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYOT Gene migrated from ENSG00000120729 to ENSG00000120729 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYOM1 Gene migrated from ENSG00000101605 to ENSG00000101605 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYO5A Gene migrated from ENSG00000197535 to ENSG00000197535 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYO1F Gene migrated from ENSG00000142347 to ENSG00000142347 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYO1E Gene migrated from ENSG00000157483 to ENSG00000157483 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYO1C Gene migrated from ENSG00000197879 to ENSG00000197879 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYLK2 Gene migrated from ENSG00000101306 to ENSG00000101306 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYH6 Gene migrated from ENSG00000197616 to ENSG00000197616 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MATN4 Gene migrated from ENSG00000124159 to ENSG00000124159 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MAPT Gene migrated from ENSG00000186868 to ENSG00000186868 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MAPK10 Gene migrated from ENSG00000109339 to ENSG00000109339 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LYZ Gene migrated from ENSG00000090382 to ENSG00000090382 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LUM Gene migrated from ENSG00000139329 to ENSG00000139329 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LRRK2 Gene migrated from ENSG00000188906 to ENSG00000188906 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LPP Gene migrated from ENSG00000145012 to ENSG00000145012 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KIF22 Gene migrated from ENSG00000079616 to ENSG00000079616 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KIFBP Gene symbol changed from KIF1BP to KIFBP during gene set migration (ENSG00000198954 -> ENSG00000198954)
Genomic newborn screening: BabyScreen+ v2.0 KIF1B Gene migrated from ENSG00000054523 to ENSG00000054523 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KDM5B Gene migrated from ENSG00000117139 to ENSG00000117139 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNQ3 Gene migrated from ENSG00000184156 to ENSG00000184156 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNQ2 Gene migrated from ENSG00000075043 to ENSG00000075043 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNQ1OT1 Gene migrated from ENSG00000269821 to ENSG00000269821 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNJ8 Gene migrated from ENSG00000121361 to ENSG00000121361 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNJ5 Gene migrated from ENSG00000120457 to ENSG00000120457 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ISCU Gene migrated from ENSG00000136003 to ENSG00000136003 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IRS1 Gene migrated from ENSG00000169047 to ENSG00000169047 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ILK Gene migrated from ENSG00000166333 to ENSG00000166333 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IGBP1 Gene migrated from ENSG00000089289 to ENSG00000089289 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IFT80 Gene migrated from ENSG00000068885 to ENSG00000068885 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IFT43 Gene migrated from ENSG00000119650 to ENSG00000119650 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IFT122 Gene migrated from ENSG00000163913 to ENSG00000163913 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HYLS1 Gene migrated from ENSG00000198331 to ENSG00000198331 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HYDIN Gene migrated from ENSG00000157423 to ENSG00000157423 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HFE Gene migrated from ENSG00000010704 to ENSG00000010704 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HERC2 Gene migrated from ENSG00000128731 to ENSG00000128731 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HCN4 Gene migrated from ENSG00000138622 to ENSG00000138622 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HCCS Gene migrated from ENSG00000004961 to ENSG00000004961 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HAS2 Gene migrated from ENSG00000170961 to ENSG00000170961 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HARS1 Gene symbol changed from HARS to HARS1 during gene set migration (ENSG00000170445 -> ENSG00000170445)
Genomic newborn screening: BabyScreen+ v2.0 HAMP Gene migrated from ENSG00000105697 to ENSG00000105697 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 H19 Gene migrated from ENSG00000130600 to ENSG00000130600 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GYG1 Gene migrated from ENSG00000163754 to ENSG00000163754 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GLI2 Gene migrated from ENSG00000074047 to ENSG00000074047 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GLE1 Gene migrated from ENSG00000119392 to ENSG00000119392 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GFER Gene migrated from ENSG00000127554 to ENSG00000127554 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GDNF Gene migrated from ENSG00000168621 to ENSG00000168621 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GDF1 Gene migrated from ENSG00000130283 to ENSG00000130283 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GCSH Gene migrated from ENSG00000140905 to ENSG00000140905 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GCLC Gene migrated from ENSG00000001084 to ENSG00000001084 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GBE1 Gene migrated from ENSG00000114480 to ENSG00000114480 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FANCL Gene migrated from ENSG00000115392 to ENSG00000115392 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FANCF Gene migrated from ENSG00000183161 to ENSG00000183161 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FANCE Gene migrated from ENSG00000112039 to ENSG00000112039 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FAM111B Gene migrated from ENSG00000189057 to ENSG00000189057 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FAAH2 Gene migrated from ENSG00000165591 to ENSG00000165591 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ERCC3 Gene migrated from ENSG00000163161 to ENSG00000163161 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ERCC1 Gene migrated from ENSG00000012061 to ENSG00000012061 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ERBB3 Gene migrated from ENSG00000065361 to ENSG00000065361 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DTNBP1 Gene migrated from ENSG00000047579 to ENSG00000047579 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DTNA Gene migrated from ENSG00000134769 to ENSG00000134769 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DTHD1 Gene migrated from ENSG00000197057 to ENSG00000197057 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DPYD Gene migrated from ENSG00000188641 to ENSG00000188641 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DPP6 Gene migrated from ENSG00000130226 to ENSG00000130226 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DPM1 Gene migrated from ENSG00000000419 to ENSG00000000419 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DNAL1 Gene migrated from ENSG00000119661 to ENSG00000119661 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DNAJC5 Gene migrated from ENSG00000101152 to ENSG00000101152 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DNAJC19 Gene migrated from ENSG00000205981 to ENSG00000205981 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CSRP3 Gene migrated from ENSG00000129170 to ENSG00000129170 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CSF2RB Gene migrated from ENSG00000100368 to ENSG00000100368 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CSF1R Gene migrated from ENSG00000182578 to ENSG00000182578 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CRELD1 Gene migrated from ENSG00000163703 to ENSG00000163703 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CPZ Gene migrated from ENSG00000109625 to ENSG00000109625 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CPOX Gene migrated from ENSG00000080819 to ENSG00000080819 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COX4I2 Gene migrated from ENSG00000131055 to ENSG00000131055 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CYCS Gene migrated from ENSG00000172115 to ENSG00000172115 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COG7 Gene migrated from ENSG00000168434 to ENSG00000168434 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CPAP Gene symbol changed from CENPJ to CPAP during gene set migration (ENSG00000151849 -> ENSG00000151849)
Genomic newborn screening: BabyScreen+ v2.0 CEACAM16 Gene migrated from ENSG00000213892 to ENSG00000213892 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CDON Gene migrated from ENSG00000064309 to ENSG00000064309 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CDH1 Gene migrated from ENSG00000039068 to ENSG00000039068 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CD96 Gene migrated from ENSG00000153283 to ENSG00000153283 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CD46 Gene migrated from ENSG00000117335 to ENSG00000117335 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CD36 Gene migrated from ENSG00000135218 to ENSG00000135218 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CCDC88C Gene migrated from ENSG00000015133 to ENSG00000015133 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CCDC78 Gene migrated from ENSG00000162004 to ENSG00000162004 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CCDC50 Gene migrated from ENSG00000152492 to ENSG00000152492 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 POPDC1 Gene symbol changed from BVES to POPDC1 during gene set migration (ENSG00000112276 -> ENSG00000112276)
Genomic newborn screening: BabyScreen+ v2.0 BPGM Gene migrated from ENSG00000172331 to ENSG00000172331 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BNC2 Gene migrated from ENSG00000173068 to ENSG00000173068 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BLOC1S6 Gene migrated from ENSG00000104164 to ENSG00000104164 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BLOC1S3 Gene migrated from ENSG00000189114 to ENSG00000189114 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BDNF Gene migrated from ENSG00000176697 to ENSG00000176697 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BAG3 Gene migrated from ENSG00000151929 to ENSG00000151929 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 B9D2 Gene migrated from ENSG00000123810 to ENSG00000123810 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 B4GALT1 Gene migrated from ENSG00000086062 to ENSG00000086062 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 B3GAT3 Gene migrated from ENSG00000149541 to ENSG00000149541 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ARID1A Gene migrated from ENSG00000117713 to ENSG00000117713 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ARHGEF9 Gene migrated from ENSG00000131089 to ENSG00000131089 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ARHGAP31 Gene migrated from ENSG00000031081 to ENSG00000031081 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 APP Gene migrated from ENSG00000142192 to ENSG00000142192 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 APOE Gene migrated from ENSG00000130203 to ENSG00000130203 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AP1S3 Gene migrated from ENSG00000152056 to ENSG00000152056 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ANO5 Gene migrated from ENSG00000171714 to ENSG00000171714 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ANKRD1 Gene migrated from ENSG00000148677 to ENSG00000148677 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AMPD1 Gene migrated from ENSG00000116748 to ENSG00000116748 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACTA1 Gene migrated from ENSG00000143632 to ENSG00000143632 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACSF3 Gene migrated from ENSG00000176715 to ENSG00000176715 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACO2 Gene migrated from ENSG00000100412 to ENSG00000100412 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACBD5 Gene migrated from ENSG00000107897 to ENSG00000107897 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACADL Gene migrated from ENSG00000115361 to ENSG00000115361 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ABCC9 Gene migrated from ENSG00000069431 to ENSG00000069431 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ABCB7 Gene migrated from ENSG00000131269 to ENSG00000131269 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNE1 Gene migrated from ENSG00000180509 to ENSG00000180509 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GPD1L Gene migrated from ENSG00000152642 to ENSG00000152642 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACADSB Gene migrated from ENSG00000196177 to ENSG00000196177 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ZIC3 Gene migrated from ENSG00000156925 to ENSG00000156925 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ZMPSTE24 Gene migrated from ENSG00000084073 to ENSG00000084073 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CTF1 Gene migrated from ENSG00000150281 to ENSG00000150281 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ZEB2 Gene migrated from ENSG00000169554 to ENSG00000169554 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ZIC2 Gene migrated from ENSG00000043355 to ENSG00000043355 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WRN Gene migrated from ENSG00000165392 to ENSG00000165392 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WRAP53 Gene migrated from ENSG00000141499 to ENSG00000141499 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 VLDLR Gene migrated from ENSG00000147852 to ENSG00000147852 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NOG Gene migrated from ENSG00000183691 to ENSG00000183691 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 UBR1 Gene migrated from ENSG00000159459 to ENSG00000159459 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TWNK Gene migrated from ENSG00000107815 to ENSG00000107815 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TYMP Gene migrated from ENSG00000025708 to ENSG00000025708 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TYR Gene migrated from ENSG00000077498 to ENSG00000077498 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TTC21B Gene migrated from ENSG00000123607 to ENSG00000123607 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TSEN54 Gene migrated from ENSG00000182173 to ENSG00000182173 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TPM2 Gene migrated from ENSG00000198467 to ENSG00000198467 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TFAP2B Gene migrated from ENSG00000008196 to ENSG00000008196 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TFG Gene migrated from ENSG00000114354 to ENSG00000114354 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TFAP2A Gene migrated from ENSG00000137203 to ENSG00000137203 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TAFAZZIN Gene symbol changed from TAZ to TAFAZZIN during gene set migration (ENSG00000102125 -> ENSG00000102125)
Genomic newborn screening: BabyScreen+ v2.0 SUCLG1 Gene migrated from ENSG00000163541 to ENSG00000163541 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 STRA6 Gene migrated from ENSG00000137868 to ENSG00000137868 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SPRED1 Gene migrated from ENSG00000166068 to ENSG00000166068 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SPINK5 Gene migrated from ENSG00000133710 to ENSG00000133710 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SPEG Gene migrated from ENSG00000072195 to ENSG00000072195 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SMAD4 Gene migrated from ENSG00000141646 to ENSG00000141646 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FLCN Gene migrated from ENSG00000154803 to ENSG00000154803 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ESCO2 Gene migrated from ENSG00000171320 to ENSG00000171320 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CDK5RAP2 Gene migrated from ENSG00000136861 to ENSG00000136861 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC35D1 Gene migrated from ENSG00000116704 to ENSG00000116704 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SIX3 Gene migrated from ENSG00000138083 to ENSG00000138083 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SIX1 Gene migrated from ENSG00000126778 to ENSG00000126778 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SIL1 Gene migrated from ENSG00000120725 to ENSG00000120725 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SHH Gene migrated from ENSG00000164690 to ENSG00000164690 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SETX Gene migrated from ENSG00000107290 to ENSG00000107290 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SETBP1 Gene migrated from ENSG00000152217 to ENSG00000152217 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SDHD Gene migrated from ENSG00000204370 to ENSG00000204370 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SELENON Gene migrated from ENSG00000162430 to ENSG00000162430 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SCN2A Gene migrated from ENSG00000136531 to ENSG00000136531 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SCN3A Gene migrated from ENSG00000153253 to ENSG00000153253 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SCN1A Gene migrated from ENSG00000144285 to ENSG00000144285 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RS1 Gene migrated from ENSG00000102104 to ENSG00000102104 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RSPH4A Gene migrated from ENSG00000111834 to ENSG00000111834 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BARD1 Gene migrated from ENSG00000138376 to ENSG00000138376 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RSPH9 Gene migrated from ENSG00000172426 to ENSG00000172426 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ROR2 Gene migrated from ENSG00000169071 to ENSG00000169071 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ERCC6 Gene migrated from ENSG00000225830 to ENSG00000225830 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNE2 Gene migrated from ENSG00000159197 to ENSG00000159197 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ATRX Gene migrated from ENSG00000085224 to ENSG00000085224 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AIP Gene migrated from ENSG00000110711 to ENSG00000110711 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DKC1 Gene migrated from ENSG00000130826 to ENSG00000130826 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BMPR2 Gene migrated from ENSG00000204217 to ENSG00000204217 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TUBB4B Gene migrated from ENSG00000188229 to ENSG00000188229 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SUFU Gene migrated from ENSG00000107882 to ENSG00000107882 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CD164 Gene migrated from ENSG00000135535 to ENSG00000135535 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COL4A6 Gene migrated from ENSG00000197565 to ENSG00000197565 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CRYM Gene migrated from ENSG00000103316 to ENSG00000103316 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CLDN9 Gene migrated from ENSG00000213937 to ENSG00000213937 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CEP250 Gene migrated from ENSG00000126001 to ENSG00000126001 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ABHD12 Gene migrated from ENSG00000100997 to ENSG00000100997 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SPARC Gene migrated from ENSG00000113140 to ENSG00000113140 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PPIB Gene migrated from ENSG00000166794 to ENSG00000166794 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PLOD2 Gene migrated from ENSG00000152952 to ENSG00000152952 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SERPING1 Gene migrated from ENSG00000149131 to ENSG00000149131 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SORD Gene migrated from ENSG00000140263 to ENSG00000140263 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NAXE Gene migrated from ENSG00000163382 to ENSG00000163382 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MTHFS Gene migrated from ENSG00000136371 to ENSG00000136371 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NLGN4X Gene migrated from ENSG00000146938 to ENSG00000146938 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ZNF143 Gene migrated from ENSG00000166478 to ENSG00000166478 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CR2 Gene migrated from ENSG00000117322 to ENSG00000117322 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CD81 Gene migrated from ENSG00000110651 to ENSG00000110651 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MCCC2 Gene migrated from ENSG00000131844 to ENSG00000131844 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MCCC1 Gene migrated from ENSG00000078070 to ENSG00000078070 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MAT1A Gene migrated from ENSG00000151224 to ENSG00000151224 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HPD Gene migrated from ENSG00000158104 to ENSG00000158104 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LIAS Gene migrated from ENSG00000121897 to ENSG00000121897 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GRHL2 Gene migrated from ENSG00000083307 to ENSG00000083307 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GSS Gene migrated from ENSG00000100983 to ENSG00000100983 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GNPTAB Gene migrated from ENSG00000111670 to ENSG00000111670 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GLI3 Gene migrated from ENSG00000106571 to ENSG00000106571 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CRLF1 Gene migrated from ENSG00000006016 to ENSG00000006016 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KAT6B Gene migrated from ENSG00000156650 to ENSG00000156650 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KRT14 Gene migrated from ENSG00000186847 to ENSG00000186847 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KRT16 Gene migrated from ENSG00000186832 to ENSG00000186832 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KRT5 Gene migrated from ENSG00000186081 to ENSG00000186081 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HINT1 Gene migrated from ENSG00000169567 to ENSG00000169567 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HYCC1 Gene symbol changed from FAM126A to HYCC1 during gene set migration (ENSG00000122591 -> ENSG00000122591)
Genomic newborn screening: BabyScreen+ v2.0 FGD4 Gene migrated from ENSG00000139132 to ENSG00000139132 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FBN2 Gene migrated from ENSG00000138829 to ENSG00000138829 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FGFR1 Gene migrated from ENSG00000077782 to ENSG00000077782 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FGFR2 Gene migrated from ENSG00000066468 to ENSG00000066468 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FAS Gene migrated from ENSG00000026103 to ENSG00000026103 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GDAP1 Gene migrated from ENSG00000104381 to ENSG00000104381 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EXT2 Gene migrated from ENSG00000151348 to ENSG00000151348 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ERCC2 Gene migrated from ENSG00000104884 to ENSG00000104884 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EXT1 Gene migrated from ENSG00000182197 to ENSG00000182197 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EFTUD2 Gene migrated from ENSG00000108883 to ENSG00000108883 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ERCC8 Gene migrated from ENSG00000049167 to ENSG00000049167 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RFWD3 Gene migrated from ENSG00000168411 to ENSG00000168411 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ERCC5 Gene migrated from ENSG00000134899 to ENSG00000134899 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GLB1 Gene migrated from ENSG00000170266 to ENSG00000170266 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EYA4 Gene migrated from ENSG00000112319 to ENSG00000112319 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EMD Gene migrated from ENSG00000102119 to ENSG00000102119 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TSR2 Gene migrated from ENSG00000158526 to ENSG00000158526 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EDA Gene migrated from ENSG00000158813 to ENSG00000158813 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EDAR Gene migrated from ENSG00000135960 to ENSG00000135960 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DYSF Gene migrated from ENSG00000135636 to ENSG00000135636 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GFPT1 Gene migrated from ENSG00000198380 to ENSG00000198380 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GFM1 Gene migrated from ENSG00000168827 to ENSG00000168827 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DMPK Gene migrated from ENSG00000104936 to ENSG00000104936 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DCX Gene migrated from ENSG00000077279 to ENSG00000077279 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PCNT Gene migrated from ENSG00000160299 to ENSG00000160299 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SGCA Gene migrated from ENSG00000108823 to ENSG00000108823 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CASK Gene migrated from ENSG00000147044 to ENSG00000147044 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CHRNG Gene migrated from ENSG00000196811 to ENSG00000196811 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BBS1 Gene migrated from ENSG00000174483 to ENSG00000174483 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ATP2A1 Gene migrated from ENSG00000196296 to ENSG00000196296 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ATM Gene migrated from ENSG00000149311 to ENSG00000149311 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ASPA Gene migrated from ENSG00000108381 to ENSG00000108381 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALG14 Gene migrated from ENSG00000172339 to ENSG00000172339 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CAPN3 Gene migrated from ENSG00000092529 to ENSG00000092529 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LAMA3 Gene migrated from ENSG00000053747 to ENSG00000053747 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ADGRG1 Gene migrated from ENSG00000205336 to ENSG00000205336 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CEP78 Gene migrated from ENSG00000148019 to ENSG00000148019 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CACNA1A Gene migrated from ENSG00000141837 to ENSG00000141837 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BCS1L Gene migrated from ENSG00000074582 to ENSG00000074582 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BMPR1A Gene migrated from ENSG00000107779 to ENSG00000107779 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AUH Gene migrated from ENSG00000148090 to ENSG00000148090 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BLM Gene migrated from ENSG00000197299 to ENSG00000197299 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ABCB4 Gene migrated from ENSG00000005471 to ENSG00000005471 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ABCB11 Gene migrated from ENSG00000073734 to ENSG00000073734 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BRAF Gene migrated from ENSG00000157764 to ENSG00000157764 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ABCA4 Gene migrated from ENSG00000198691 to ENSG00000198691 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACAD8 Gene migrated from ENSG00000151498 to ENSG00000151498 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ARFGEF2 Gene migrated from ENSG00000124198 to ENSG00000124198 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AARS1 Gene symbol changed from AARS to AARS1 during gene set migration (ENSG00000090861 -> ENSG00000090861)
Genomic newborn screening: BabyScreen+ v2.0 GAN Gene migrated from ENSG00000261609 to ENSG00000261609 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 VIPAS39 Gene migrated from ENSG00000151445 to ENSG00000151445 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 OFD1 Gene migrated from ENSG00000046651 to ENSG00000046651 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACVR1 Gene migrated from ENSG00000115170 to ENSG00000115170 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DOLK Gene migrated from ENSG00000175283 to ENSG00000175283 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACOX1 Gene migrated from ENSG00000161533 to ENSG00000161533 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ATP2B2 Gene migrated from ENSG00000157087 to ENSG00000157087 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 APTX Gene migrated from ENSG00000137074 to ENSG00000137074 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALG9 Gene migrated from ENSG00000086848 to ENSG00000086848 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 APOB Gene migrated from ENSG00000084674 to ENSG00000084674 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NEFL Gene migrated from ENSG00000277586 to ENSG00000277586 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALG8 Gene migrated from ENSG00000159063 to ENSG00000159063 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALDH18A1 Gene migrated from ENSG00000059573 to ENSG00000059573 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CFC1 Gene migrated from ENSG00000136698 to ENSG00000136698 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALAS2 Gene migrated from ENSG00000158578 to ENSG00000158578 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 APC Gene migrated from ENSG00000134982 to ENSG00000134982 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CTSD Gene migrated from ENSG00000117984 to ENSG00000117984 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ANTXR2 Gene migrated from ENSG00000163297 to ENSG00000163297 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ANKRD26 Gene migrated from ENSG00000107890 to ENSG00000107890 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AHI1 Gene migrated from ENSG00000135541 to ENSG00000135541 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CCDC40 Gene migrated from ENSG00000141519 to ENSG00000141519 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CEP290 Gene migrated from ENSG00000198707 to ENSG00000198707 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MPZ Gene migrated from ENSG00000158887 to ENSG00000158887 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ADK Gene migrated from ENSG00000156110 to ENSG00000156110 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ZNF469 Gene migrated from ENSG00000225614 to ENSG00000225614 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CC2D2A Gene migrated from ENSG00000048342 to ENSG00000048342 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 B3GLCT Gene migrated from ENSG00000187676 to ENSG00000187676 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MKS1 Gene migrated from ENSG00000011143 to ENSG00000011143 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MGAT2 Gene migrated from ENSG00000168282 to ENSG00000168282 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BBS5 Gene migrated from ENSG00000163093 to ENSG00000163093 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AMELX Gene migrated from ENSG00000125363 to ENSG00000125363 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACTN4 Gene migrated from ENSG00000130402 to ENSG00000130402 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MED25 Gene migrated from ENSG00000104973 to ENSG00000104973 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BBS2 Gene migrated from ENSG00000125124 to ENSG00000125124 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALOXE3 Gene migrated from ENSG00000179148 to ENSG00000179148 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACE Gene migrated from ENSG00000159640 to ENSG00000159640 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ZNF674 Gene migrated from ENSG00000251192 to ENSG00000251192 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ZNF252P Gene migrated from ENSG00000196922 to ENSG00000196922 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ZFPM2 Gene migrated from ENSG00000169946 to ENSG00000169946 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 YARS2 Gene migrated from ENSG00000139131 to ENSG00000139131 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WNT7A Gene migrated from ENSG00000154764 to ENSG00000154764 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WNT5A Gene migrated from ENSG00000114251 to ENSG00000114251 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WNT3 Gene migrated from ENSG00000108379 to ENSG00000108379 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WDR36 Gene migrated from ENSG00000134987 to ENSG00000134987 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WDR35 Gene migrated from ENSG00000118965 to ENSG00000118965 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TRIP11 Gene migrated from ENSG00000100815 to ENSG00000100815 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TRH Gene migrated from ENSG00000170893 to ENSG00000170893 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TNXB Gene migrated from ENSG00000168477 to ENSG00000168477 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TMPO Gene migrated from ENSG00000120802 to ENSG00000120802 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TMEM237 Gene migrated from ENSG00000155755 to ENSG00000155755 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TMEM216 Gene migrated from ENSG00000187049 to ENSG00000187049 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TJP2 Gene migrated from ENSG00000119139 to ENSG00000119139 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 THBS1 Gene migrated from ENSG00000137801 to ENSG00000137801 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SYT14 Gene migrated from ENSG00000143469 to ENSG00000143469 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SYNE4 Gene migrated from ENSG00000181392 to ENSG00000181392 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ST3GAL5 Gene migrated from ENSG00000115525 to ENSG00000115525 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ST14 Gene migrated from ENSG00000149418 to ENSG00000149418 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SPTLC2 Gene migrated from ENSG00000100596 to ENSG00000100596 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SOX18 Gene migrated from ENSG00000203883 to ENSG00000203883 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SOD1 Gene migrated from ENSG00000142168 to ENSG00000142168 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLCO1B3 Gene migrated from ENSG00000111700 to ENSG00000111700 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLCO1B1 Gene migrated from ENSG00000134538 to ENSG00000134538 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NHERF1 Gene symbol changed from SLC9A3R1 to NHERF1 during gene set migration (ENSG00000109062 -> ENSG00000109062)
Genomic newborn screening: BabyScreen+ v2.0 SLC6A2 Gene migrated from ENSG00000103546 to ENSG00000103546 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC4A4 Gene migrated from ENSG00000080493 to ENSG00000080493 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC4A10 Gene migrated from ENSG00000144290 to ENSG00000144290 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC41A1 Gene migrated from ENSG00000133065 to ENSG00000133065 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SHOC2 Gene migrated from ENSG00000108061 to ENSG00000108061 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SH3BP2 Gene migrated from ENSG00000087266 to ENSG00000087266 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SFTPA2 Gene migrated from ENSG00000185303 to ENSG00000185303 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SERPIND1 Gene migrated from ENSG00000099937 to ENSG00000099937 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SERPINC1 Gene migrated from ENSG00000117601 to ENSG00000117601 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SERPINB6 Gene migrated from ENSG00000124570 to ENSG00000124570 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SEMA3A Gene migrated from ENSG00000075213 to ENSG00000075213 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SEC63 Gene migrated from ENSG00000025796 to ENSG00000025796 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SCP2 Gene migrated from ENSG00000116171 to ENSG00000116171 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SCO1 Gene migrated from ENSG00000133028 to ENSG00000133028 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SCN4B Gene migrated from ENSG00000177098 to ENSG00000177098 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SCN4A Gene migrated from ENSG00000007314 to ENSG00000007314 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SCN3B Gene migrated from ENSG00000166257 to ENSG00000166257 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SCN2B Gene migrated from ENSG00000149575 to ENSG00000149575 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SCN1B Gene migrated from ENSG00000105711 to ENSG00000105711 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SC5D Gene migrated from ENSG00000109929 to ENSG00000109929 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RHAG Gene migrated from ENSG00000112077 to ENSG00000112077 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RFX6 Gene migrated from ENSG00000185002 to ENSG00000185002 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PRKAG2 Gene migrated from ENSG00000106617 to ENSG00000106617 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TMC8 Gene migrated from ENSG00000167895 to ENSG00000167895 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PRICKLE1 Gene migrated from ENSG00000139174 to ENSG00000139174 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PREPL Gene migrated from ENSG00000138078 to ENSG00000138078 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PRDM16 Gene migrated from ENSG00000142611 to ENSG00000142611 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PODXL Gene migrated from ENSG00000128567 to ENSG00000128567 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PDLIM3 Gene migrated from ENSG00000154553 to ENSG00000154553 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PDE11A Gene migrated from ENSG00000128655 to ENSG00000128655 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PABPN1 Gene migrated from ENSG00000100836 to ENSG00000100836 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 P2RX2 Gene migrated from ENSG00000187848 to ENSG00000187848 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 OTUD4 Gene migrated from ENSG00000164164 to ENSG00000164164 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ORC6 Gene migrated from ENSG00000091651 to ENSG00000091651 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ORC4 Gene migrated from ENSG00000115947 to ENSG00000115947 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 OPA3 Gene migrated from ENSG00000125741 to ENSG00000125741 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NUP62 Gene migrated from ENSG00000213024 to ENSG00000213024 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NKX3-2 Gene migrated from ENSG00000109705 to ENSG00000109705 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NIN Gene migrated from ENSG00000100503 to ENSG00000100503 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NHP2 Gene migrated from ENSG00000145912 to ENSG00000145912 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NFATC1 Gene migrated from ENSG00000131196 to ENSG00000131196 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NEXN Gene migrated from ENSG00000162614 to ENSG00000162614 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NEDD4L Gene migrated from ENSG00000049759 to ENSG00000049759 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NECTIN1 Gene migrated from ENSG00000110400 to ENSG00000110400 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NEBL Gene migrated from ENSG00000078114 to ENSG00000078114 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NAA15 Gene migrated from ENSG00000164134 to ENSG00000164134 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NAA10 Gene migrated from ENSG00000102030 to ENSG00000102030 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYBPC3 Gene migrated from ENSG00000134571 to ENSG00000134571 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MUC5B Gene migrated from ENSG00000117983 to ENSG00000117983 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MTO1 Gene migrated from ENSG00000135297 to ENSG00000135297 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MT-ND6 Gene migrated from ENSG00000198695 to ENSG00000198695 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MT-ND4 Gene migrated from ENSG00000198886 to ENSG00000198886 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MT-ND1 Gene migrated from ENSG00000198888 to ENSG00000198888 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MSRB3 Gene migrated from ENSG00000174099 to ENSG00000174099 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MRPS22 Gene migrated from ENSG00000175110 to ENSG00000175110 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MRPS16 Gene migrated from ENSG00000182180 to ENSG00000182180 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MOGS Gene migrated from ENSG00000115275 to ENSG00000115275 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MLPH Gene migrated from ENSG00000115648 to ENSG00000115648 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MIR96 Gene migrated from ENSG00000199158 to ENSG00000199158 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MIB1 Gene migrated from ENSG00000101752 to ENSG00000101752 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MESP2 Gene migrated from ENSG00000188095 to ENSG00000188095 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MED20 Gene migrated from ENSG00000124641 to ENSG00000124641 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MED13L Gene migrated from ENSG00000123066 to ENSG00000123066 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LHB Gene migrated from ENSG00000104826 to ENSG00000104826 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LGI1 Gene migrated from ENSG00000108231 to ENSG00000108231 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LDB3 Gene migrated from ENSG00000122367 to ENSG00000122367 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LBR Gene migrated from ENSG00000143815 to ENSG00000143815 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LARS1 Gene symbol changed from LARS to LARS1 during gene set migration (ENSG00000133706 -> ENSG00000133706)
Genomic newborn screening: BabyScreen+ v2.0 LAMA4 Gene migrated from ENSG00000112769 to ENSG00000112769 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KRT8 Gene migrated from ENSG00000170421 to ENSG00000170421 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KRT6B Gene migrated from ENSG00000185479 to ENSG00000185479 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KRT18 Gene migrated from ENSG00000111057 to ENSG00000111057 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KPTN Gene migrated from ENSG00000118162 to ENSG00000118162 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNJ18 Gene migrated from ENSG00000260458 to ENSG00000260458 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNE5 Gene migrated from ENSG00000176076 to ENSG00000176076 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNE3 Gene migrated from ENSG00000175538 to ENSG00000175538 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCND3 Gene migrated from ENSG00000171385 to ENSG00000171385 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EVC Gene migrated from ENSG00000072840 to ENSG00000072840 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COQ8B Gene migrated from ENSG00000123815 to ENSG00000123815 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 JPH2 Gene migrated from ENSG00000149596 to ENSG00000149596 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ITGA7 Gene migrated from ENSG00000135424 to ENSG00000135424 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ITGA6 Gene migrated from ENSG00000091409 to ENSG00000091409 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HPS6 Gene migrated from ENSG00000166189 to ENSG00000166189 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HOXA1 Gene migrated from ENSG00000105991 to ENSG00000105991 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HOMEZ Gene migrated from ENSG00000215271 to ENSG00000290292 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HNF1B Gene migrated from ENSG00000275410 to ENSG00000275410 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HMBS Gene migrated from ENSG00000256269 to ENSG00000256269 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HJV Gene symbol changed from HFE2 to HJV during gene set migration (ENSG00000168509 -> ENSG00000168509)
Genomic newborn screening: BabyScreen+ v2.0 GTF2H5 Gene migrated from ENSG00000272047 to ENSG00000272047 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GRIN2A Gene migrated from ENSG00000183454 to ENSG00000183454 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GPX1 Gene migrated from ENSG00000233276 to ENSG00000233276 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GPHN Gene migrated from ENSG00000171723 to ENSG00000171723 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GPC6 Gene migrated from ENSG00000183098 to ENSG00000183098 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GPC4 Gene migrated from ENSG00000076716 to ENSG00000076716 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GMPPA Gene migrated from ENSG00000144591 to ENSG00000144591 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GLUL Gene migrated from ENSG00000135821 to ENSG00000135821 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GLRB Gene migrated from ENSG00000109738 to ENSG00000109738 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GUCY2C Gene migrated from ENSG00000070019 to ENSG00000070019 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GATAD1 Gene migrated from ENSG00000157259 to ENSG00000157259 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GATA6 Gene migrated from ENSG00000141448 to ENSG00000141448 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GATA5 Gene migrated from ENSG00000130700 to ENSG00000130700 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GATA1 Gene migrated from ENSG00000102145 to ENSG00000102145 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GABRA1 Gene migrated from ENSG00000022355 to ENSG00000022355 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FTCD Gene migrated from ENSG00000160282 to ENSG00000160282 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FSCN2 Gene migrated from ENSG00000186765 to ENSG00000186765 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FREM2 Gene migrated from ENSG00000150893 to ENSG00000150893 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FREM1 Gene migrated from ENSG00000164946 to ENSG00000164946 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FOXH1 Gene migrated from ENSG00000160973 to ENSG00000160973 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FOXF2 Gene migrated from ENSG00000137273 to ENSG00000137273 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FMO3 Gene migrated from ENSG00000007933 to ENSG00000007933 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FLNC Gene migrated from ENSG00000128591 to ENSG00000128591 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FLG Gene migrated from ENSG00000143631 to ENSG00000143631 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FKBPL Gene migrated from ENSG00000204315 to ENSG00000204315 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FHL2 Gene migrated from ENSG00000115641 to ENSG00000115641 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FHL1 Gene migrated from ENSG00000022267 to ENSG00000022267 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FBLN5 Gene migrated from ENSG00000140092 to ENSG00000140092 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EPHX1 Gene migrated from ENSG00000143819 to ENSG00000143819 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EPCAM Gene migrated from ENSG00000119888 to ENSG00000119888 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EPB42 Gene migrated from ENSG00000166947 to ENSG00000166947 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EIF2B1 Gene migrated from ENSG00000111361 to ENSG00000111361 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EFHC1 Gene migrated from ENSG00000096093 to ENSG00000096093 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EFEMP2 Gene migrated from ENSG00000172638 to ENSG00000172638 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DNAI2 Gene migrated from ENSG00000171595 to ENSG00000171595 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DNAAF5 Gene migrated from ENSG00000164818 to ENSG00000164818 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DNAAF3 Gene migrated from ENSG00000167646 to ENSG00000167646 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DNAAF2 Gene migrated from ENSG00000165506 to ENSG00000165506 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DLC1 Gene migrated from ENSG00000164741 to ENSG00000164741 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DIABLO Gene migrated from ENSG00000184047 to ENSG00000184047 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DHCR24 Gene migrated from ENSG00000116133 to ENSG00000116133 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DGKE Gene migrated from ENSG00000153933 to ENSG00000153933 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DDR2 Gene migrated from ENSG00000162733 to ENSG00000162733 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DECR1 Gene migrated from ENSG00000104325 to ENSG00000104325 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DDOST Gene migrated from ENSG00000244038 to ENSG00000244038 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DDHD1 Gene migrated from ENSG00000100523 to ENSG00000100523 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DCTN1 Gene migrated from ENSG00000204843 to ENSG00000204843 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DBH Gene migrated from ENSG00000123454 to ENSG00000123454 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DAPK3 Gene migrated from ENSG00000167657 to ENSG00000167657 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DAG1 Gene migrated from ENSG00000173402 to ENSG00000173402 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CYP7A1 Gene migrated from ENSG00000167910 to ENSG00000167910 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CTDP1 Gene migrated from ENSG00000060069 to ENSG00000060069 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COG4 Gene migrated from ENSG00000103051 to ENSG00000103051 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CNTNAP2 Gene migrated from ENSG00000174469 to ENSG00000174469 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CLMP Gene migrated from ENSG00000166250 to ENSG00000166250 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CLDN1 Gene migrated from ENSG00000163347 to ENSG00000163347 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CLCN1 Gene migrated from ENSG00000188037 to ENSG00000188037 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CITED2 Gene migrated from ENSG00000164442 to ENSG00000164442 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CISD2 Gene migrated from ENSG00000145354 to ENSG00000145354 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CHSY1 Gene migrated from ENSG00000131873 to ENSG00000131873 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CHST3 Gene migrated from ENSG00000122863 to ENSG00000122863 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CHRNA2 Gene migrated from ENSG00000120903 to ENSG00000120903 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CHRM2 Gene migrated from ENSG00000181072 to ENSG00000181072 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CHEK2 Gene migrated from ENSG00000183765 to ENSG00000183765 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CFHR5 Gene migrated from ENSG00000134389 to ENSG00000134389 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CFHR4 Gene migrated from ENSG00000134365 to ENSG00000134365 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CFHR3 Gene migrated from ENSG00000116785 to ENSG00000116785 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CFHR1 Gene migrated from ENSG00000244414 to ENSG00000244414 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CFB Gene migrated from ENSG00000243649 to ENSG00000243649 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DNAAF19 Gene symbol changed from CCDC103 to DNAAF19 during gene set migration (ENSG00000167131 -> ENSG00000167131)
Genomic newborn screening: BabyScreen+ v2.0 CAVIN4 Gene migrated from ENSG00000170681 to ENSG00000170681 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CASP10 Gene migrated from ENSG00000003400 to ENSG00000003400 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CARS2 Gene migrated from ENSG00000134905 to ENSG00000134905 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CACNB2 Gene migrated from ENSG00000165995 to ENSG00000165995 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CACNA2D1 Gene migrated from ENSG00000153956 to ENSG00000153956 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CACNA1D Gene migrated from ENSG00000157388 to ENSG00000157388 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CEP41 Gene migrated from ENSG00000106477 to ENSG00000106477 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AXL Gene migrated from ENSG00000167601 to ENSG00000167601 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ATR Gene migrated from ENSG00000175054 to ENSG00000175054 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ATP6AP2 Gene migrated from ENSG00000182220 to ENSG00000182220 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ATP1A3 Gene migrated from ENSG00000105409 to ENSG00000105409 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ATN1 Gene migrated from ENSG00000111676 to ENSG00000111676 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ATIC Gene migrated from ENSG00000138363 to ENSG00000138363 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ASNS Gene migrated from ENSG00000070669 to ENSG00000070669 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ASCL1 Gene migrated from ENSG00000139352 to ENSG00000139352 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ARSL Gene symbol changed from ARSE to ARSL during gene set migration (ENSG00000157399 -> ENSG00000157399)
Genomic newborn screening: BabyScreen+ v2.0 ALG2 Gene migrated from ENSG00000119523 to ENSG00000119523 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALG11 Gene migrated from ENSG00000253710 to ENSG00000253710 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALDOA Gene migrated from ENSG00000149925 to ENSG00000149925 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALDH1A2 Gene migrated from ENSG00000128918 to ENSG00000128918 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AKT3 Gene migrated from ENSG00000117020 to ENSG00000117020 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AKT2 Gene migrated from ENSG00000105221 to ENSG00000105221 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AKAP9 Gene migrated from ENSG00000127914 to ENSG00000127914 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MAP2K1 Gene migrated from ENSG00000169032 to ENSG00000169032 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AK1 Gene migrated from ENSG00000106992 to ENSG00000106992 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AHSP Gene migrated from ENSG00000169877 to ENSG00000169877 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AGTR1 Gene migrated from ENSG00000144891 to ENSG00000144891 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AGT Gene migrated from ENSG00000135744 to ENSG00000135744 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AGPS Gene migrated from ENSG00000018510 to ENSG00000018510 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ADAMTS2 Gene migrated from ENSG00000087116 to ENSG00000087116 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ADAM17 Gene migrated from ENSG00000151694 to ENSG00000151694 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACTN2 Gene migrated from ENSG00000077522 to ENSG00000077522 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACTC1 Gene migrated from ENSG00000159251 to ENSG00000159251 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ABAT Gene migrated from ENSG00000183044 to ENSG00000183044 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AARS2 Gene migrated from ENSG00000124608 to ENSG00000124608 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MAD2L2 Gene migrated from ENSG00000116670 to ENSG00000116670 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LMNA Gene migrated from ENSG00000160789 to ENSG00000160789 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACTB Gene migrated from ENSG00000075624 to ENSG00000075624 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CSTB Gene migrated from ENSG00000160213 to ENSG00000160213 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CYP4F22 Gene migrated from ENSG00000171954 to ENSG00000171954 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GJA5 Gene migrated from ENSG00000265107 to ENSG00000265107 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DES Gene migrated from ENSG00000175084 to ENSG00000175084 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CRYAB Gene migrated from ENSG00000109846 to ENSG00000109846 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MTHFR Gene migrated from ENSG00000177000 to ENSG00000177000 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WDR62 Gene migrated from ENSG00000075702 to ENSG00000075702 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HRAS Gene migrated from ENSG00000174775 to ENSG00000174775 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FKTN Gene migrated from ENSG00000106692 to ENSG00000106692 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CLN8 Gene migrated from ENSG00000182372 to ENSG00000182372 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 VPS13A Gene migrated from ENSG00000197969 to ENSG00000197969 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 VPS13B Gene migrated from ENSG00000132549 to ENSG00000132549 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ARL13B Gene migrated from ENSG00000169379 to ENSG00000169379 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 VCAN Gene migrated from ENSG00000038427 to ENSG00000038427 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 UROD Gene migrated from ENSG00000126088 to ENSG00000126088 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 UMOD Gene migrated from ENSG00000169344 to ENSG00000169344 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TTR Gene migrated from ENSG00000118271 to ENSG00000118271 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TTC7A Gene migrated from ENSG00000068724 to ENSG00000068724 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SKIC3 Gene symbol changed from TTC37 to SKIC3 during gene set migration (ENSG00000198677 -> ENSG00000198677)
Genomic newborn screening: BabyScreen+ v2.0 TRPM4 Gene migrated from ENSG00000130529 to ENSG00000130529 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TSC1 Gene migrated from ENSG00000165699 to ENSG00000165699 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TRIM32 Gene migrated from ENSG00000119401 to ENSG00000119401 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TRIM37 Gene migrated from ENSG00000108395 to ENSG00000108395 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TRAPPC2 Gene migrated from ENSG00000196459 to ENSG00000196459 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TNNI2 Gene migrated from ENSG00000130598 to ENSG00000130598 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TNNT1 Gene migrated from ENSG00000105048 to ENSG00000105048 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CD2AP Gene migrated from ENSG00000198087 to ENSG00000198087 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TMEM43 Gene migrated from ENSG00000170876 to ENSG00000170876 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TMEM67 Gene migrated from ENSG00000164953 to ENSG00000164953 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TIMM8A Gene migrated from ENSG00000126953 to ENSG00000126953 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TGM1 Gene migrated from ENSG00000092295 to ENSG00000092295 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TCOF1 Gene migrated from ENSG00000070814 to ENSG00000070814 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TBX1 Gene migrated from ENSG00000184058 to ENSG00000184058 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TBX5 Gene migrated from ENSG00000089225 to ENSG00000089225 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SUCLA2 Gene migrated from ENSG00000136143 to ENSG00000136143 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 STS Gene migrated from ENSG00000101846 to ENSG00000101846 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 STAC3 Gene migrated from ENSG00000185482 to ENSG00000185482 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TGM5 Gene migrated from ENSG00000104055 to ENSG00000104055 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SPTB Gene migrated from ENSG00000070182 to ENSG00000070182 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SOX10 Gene migrated from ENSG00000100146 to ENSG00000100146 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLCO2A1 Gene migrated from ENSG00000174640 to ENSG00000174640 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC9A6 Gene migrated from ENSG00000198689 to ENSG00000198689 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SMPX Gene migrated from ENSG00000091482 to ENSG00000091482 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC5A2 Gene migrated from ENSG00000140675 to ENSG00000140675 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC4A11 Gene migrated from ENSG00000088836 to ENSG00000088836 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC3A1 Gene migrated from ENSG00000138079 to ENSG00000138079 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC45A2 Gene migrated from ENSG00000164175 to ENSG00000164175 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC34A2 Gene migrated from ENSG00000157765 to ENSG00000157765 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC2A10 Gene migrated from ENSG00000197496 to ENSG00000197496 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC27A4 Gene migrated from ENSG00000167114 to ENSG00000167114 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC26A2 Gene migrated from ENSG00000155850 to ENSG00000155850 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC25A4 Gene migrated from ENSG00000151729 to ENSG00000151729 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BCL9 Gene migrated from ENSG00000116128 to ENSG00000116128 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC17A5 Gene migrated from ENSG00000119899 to ENSG00000119899 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC12A6 Gene migrated from ENSG00000140199 to ENSG00000140199 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC12A3 Gene migrated from ENSG00000070915 to ENSG00000070915 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SKI Gene migrated from ENSG00000157933 to ENSG00000157933 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SH3TC2 Gene migrated from ENSG00000169247 to ENSG00000169247 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SGCG Gene migrated from ENSG00000102683 to ENSG00000102683 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SGCB Gene migrated from ENSG00000163069 to ENSG00000163069 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SGCD Gene migrated from ENSG00000170624 to ENSG00000170624 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SFTPC Gene migrated from ENSG00000168484 to ENSG00000168484 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SFTPB Gene migrated from ENSG00000168878 to ENSG00000168878 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SCO2 Gene migrated from ENSG00000130489 to ENSG00000284194 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SCN8A Gene migrated from ENSG00000196876 to ENSG00000196876 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SCN11A Gene migrated from ENSG00000168356 to ENSG00000168356 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SALL1 Gene migrated from ENSG00000103449 to ENSG00000103449 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SACS Gene migrated from ENSG00000151835 to ENSG00000151835 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPS6KA3 Gene migrated from ENSG00000177189 to ENSG00000177189 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPS28 Gene migrated from ENSG00000233927 to ENSG00000233927 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPS29 Gene migrated from ENSG00000213741 to ENSG00000213741 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPS27 Gene migrated from ENSG00000177954 to ENSG00000177954 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPS15A Gene migrated from ENSG00000134419 to ENSG00000134419 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPL27 Gene migrated from ENSG00000131469 to ENSG00000131469 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPL35 Gene migrated from ENSG00000136942 to ENSG00000136942 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPL18 Gene migrated from ENSG00000063177 to ENSG00000063177 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPGR Gene migrated from ENSG00000156313 to ENSG00000156313 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPGRIP1L Gene migrated from ENSG00000103494 to ENSG00000103494 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RETREG1 Gene migrated from ENSG00000154153 to ENSG00000154153 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RECQL4 Gene migrated from ENSG00000160957 to ENSG00000160957 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 REN Gene migrated from ENSG00000143839 to ENSG00000143839 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RBM8A Gene migrated from ENSG00000265241 to ENSG00000265241 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RASA1 Gene migrated from ENSG00000145715 to ENSG00000145715 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RAI1 Gene migrated from ENSG00000108557 to ENSG00000108557 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RAB7A Gene migrated from ENSG00000075785 to ENSG00000075785 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RAF1 Gene migrated from ENSG00000132155 to ENSG00000132155 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RAB3GAP2 Gene migrated from ENSG00000118873 to ENSG00000118873 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RAB3GAP1 Gene migrated from ENSG00000115839 to ENSG00000115839 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PTPN11 Gene migrated from ENSG00000179295 to ENSG00000179295 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PTEN Gene migrated from ENSG00000171862 to ENSG00000171862 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PRX Gene migrated from ENSG00000105227 to ENSG00000105227 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PSAP Gene migrated from ENSG00000197746 to ENSG00000197746 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PROKR2 Gene migrated from ENSG00000101292 to ENSG00000101292 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PROC Gene migrated from ENSG00000115718 to ENSG00000115718 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 C8A Gene migrated from ENSG00000157131 to ENSG00000157131 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 POU4F3 Gene migrated from ENSG00000091010 to ENSG00000091010 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PQBP1 Gene migrated from ENSG00000102103 to ENSG00000102103 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PPT1 Gene migrated from ENSG00000131238 to ENSG00000131238 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PORCN Gene migrated from ENSG00000102312 to ENSG00000102312 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 POMT1 Gene migrated from ENSG00000130714 to ENSG00000130714 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 POLH Gene migrated from ENSG00000170734 to ENSG00000170734 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PMM2 Gene migrated from ENSG00000140650 to ENSG00000140650 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PLOD1 Gene migrated from ENSG00000083444 to ENSG00000083444 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PLEC Gene migrated from ENSG00000178209 to ENSG00000178209 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PLCE1 Gene migrated from ENSG00000138193 to ENSG00000138193 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PLA2G6 Gene migrated from ENSG00000184381 to ENSG00000184381 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PINK1 Gene migrated from ENSG00000158828 to ENSG00000158828 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PIGA Gene migrated from ENSG00000165195 to ENSG00000165195 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PHYH Gene migrated from ENSG00000107537 to ENSG00000107537 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PHF6 Gene migrated from ENSG00000156531 to ENSG00000156531 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PFKM Gene migrated from ENSG00000152556 to ENSG00000152556 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PEX6 Gene migrated from ENSG00000124587 to ENSG00000124587 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PEX5 Gene migrated from ENSG00000139197 to ENSG00000139197 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PEX3 Gene migrated from ENSG00000034693 to ENSG00000034693 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PEX26 Gene migrated from ENSG00000215193 to ENSG00000215193 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PEX2 Gene migrated from ENSG00000164751 to ENSG00000164751 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PEX13 Gene migrated from ENSG00000162928 to ENSG00000162928 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PEX12 Gene migrated from ENSG00000108733 to ENSG00000108733 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PEX10 Gene migrated from ENSG00000157911 to ENSG00000157911 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PEX1 Gene migrated from ENSG00000127980 to ENSG00000127980 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PDE4D Gene migrated from ENSG00000113448 to ENSG00000113448 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RAB23 Gene migrated from ENSG00000112210 to ENSG00000112210 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PAX6 Gene migrated from ENSG00000007372 to ENSG00000007372 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PANK2 Gene migrated from ENSG00000125779 to ENSG00000125779 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 P2RY12 Gene migrated from ENSG00000169313 to ENSG00000169313 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 OSTM1 Gene migrated from ENSG00000081087 to ENSG00000081087 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 OSMR Gene migrated from ENSG00000145623 to ENSG00000145623 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ORC1 Gene migrated from ENSG00000085840 to ENSG00000085840 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 OCRL Gene migrated from ENSG00000122126 to ENSG00000122126 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 OBSL1 Gene migrated from ENSG00000124006 to ENSG00000124006 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NTRK1 Gene migrated from ENSG00000198400 to ENSG00000198400 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NSD1 Gene migrated from ENSG00000165671 to ENSG00000165671 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NPHS1 Gene migrated from ENSG00000161270 to ENSG00000161270 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NPHP4 Gene migrated from ENSG00000131697 to ENSG00000131697 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NPHP3 Gene migrated from ENSG00000113971 to ENSG00000113971 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NPHP1 Gene migrated from ENSG00000144061 to ENSG00000144061 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NOTCH3 Gene migrated from ENSG00000074181 to ENSG00000074181 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NOTCH2 Gene migrated from ENSG00000134250 to ENSG00000134250 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EPM2A Gene migrated from ENSG00000112425 to ENSG00000112425 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NIPBL Gene migrated from ENSG00000164190 to ENSG00000164190 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PAK3 Gene migrated from ENSG00000077264 to ENSG00000077264 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NGLY1 Gene migrated from ENSG00000151092 to ENSG00000151092 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NF2 Gene migrated from ENSG00000186575 to ENSG00000186575 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NF1 Gene migrated from ENSG00000196712 to ENSG00000196712 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NEK8 Gene migrated from ENSG00000160602 to ENSG00000160602 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FOXI1 Gene migrated from ENSG00000168269 to ENSG00000168269 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CREBBP Gene migrated from ENSG00000005339 to ENSG00000005339 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BANF1 Gene migrated from ENSG00000175334 to ENSG00000175334 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NEK1 Gene migrated from ENSG00000137601 to ENSG00000137601 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NEB Gene migrated from ENSG00000183091 to ENSG00000183091 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NDP Gene migrated from ENSG00000124479 to ENSG00000124479 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NAGA Gene migrated from ENSG00000198951 to ENSG00000198951 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYO9A Gene migrated from ENSG00000066933 to ENSG00000066933 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYH9 Gene migrated from ENSG00000100345 to ENSG00000100345 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACVR2B Gene migrated from ENSG00000114739 to ENSG00000114739 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYH2 Gene migrated from ENSG00000125414 to ENSG00000125414 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYH14 Gene migrated from ENSG00000105357 to ENSG00000105357 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYCN Gene migrated from ENSG00000134323 to ENSG00000134323 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYBPC1 Gene migrated from ENSG00000196091 to ENSG00000196091 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MUTYH Gene migrated from ENSG00000132781 to ENSG00000132781 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NBN Gene migrated from ENSG00000104320 to ENSG00000104320 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MTM1 Gene migrated from ENSG00000171100 to ENSG00000171100 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MPV17 Gene migrated from ENSG00000115204 to ENSG00000115204 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MPDU1 Gene migrated from ENSG00000129255 to ENSG00000129255 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MOCS2 Gene migrated from ENSG00000164172 to ENSG00000164172 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CBL Gene migrated from ENSG00000110395 to ENSG00000110395 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MLC1 Gene migrated from ENSG00000100427 to ENSG00000100427 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MKKS Gene migrated from ENSG00000125863 to ENSG00000125863 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MGP Gene migrated from ENSG00000111341 to ENSG00000111341 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COL17A1 Gene migrated from ENSG00000065618 to ENSG00000065618 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MFSD8 Gene migrated from ENSG00000164073 to ENSG00000164073 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FAM161A Gene migrated from ENSG00000170264 to ENSG00000170264 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MEGF10 Gene migrated from ENSG00000145794 to ENSG00000145794 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MED12 Gene migrated from ENSG00000184634 to ENSG00000184634 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MECP2 Gene migrated from ENSG00000169057 to ENSG00000169057 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MBTPS2 Gene migrated from ENSG00000012174 to ENSG00000012174 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MAP2K2 Gene migrated from ENSG00000126934 to ENSG00000126934 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MAGI2 Gene migrated from ENSG00000187391 to ENSG00000187391 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LTBP4 Gene migrated from ENSG00000090006 to ENSG00000090006 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DNAAF11 Gene symbol changed from LRRC6 to DNAAF11 during gene set migration (ENSG00000129295 -> ENSG00000129295)
Genomic newborn screening: BabyScreen+ v2.0 LRSAM1 Gene migrated from ENSG00000148356 to ENSG00000148356 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LRPPRC Gene migrated from ENSG00000138095 to ENSG00000138095 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LRP2 Gene migrated from ENSG00000081479 to ENSG00000081479 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LRP4 Gene migrated from ENSG00000134569 to ENSG00000134569 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LMX1B Gene migrated from ENSG00000136944 to ENSG00000136944 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LMOD3 Gene migrated from ENSG00000163380 to ENSG00000163380 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LITAF Gene migrated from ENSG00000189067 to ENSG00000189067 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LIFR Gene migrated from ENSG00000113594 to ENSG00000113594 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LARS2 Gene migrated from ENSG00000011376 to ENSG00000011376 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LARGE1 Gene migrated from ENSG00000133424 to ENSG00000133424 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LAMTOR2 Gene migrated from ENSG00000116586 to ENSG00000116586 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LAMC2 Gene migrated from ENSG00000058085 to ENSG00000058085 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KRT6A Gene migrated from ENSG00000205420 to ENSG00000205420 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KRT17 Gene migrated from ENSG00000128422 to ENSG00000128422 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KRAS Gene migrated from ENSG00000133703 to ENSG00000133703 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KLHL41 Gene migrated from ENSG00000239474 to ENSG00000239474 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KMT2D Gene migrated from ENSG00000167548 to ENSG00000167548 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KLHL40 Gene migrated from ENSG00000157119 to ENSG00000157119 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KIT Gene migrated from ENSG00000157404 to ENSG00000157404 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNQ4 Gene migrated from ENSG00000117013 to ENSG00000117013 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNT1 Gene migrated from ENSG00000107147 to ENSG00000107147 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNA1 Gene migrated from ENSG00000111262 to ENSG00000111262 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KBTBD13 Gene migrated from ENSG00000234438 to ENSG00000234438 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC7A9 Gene migrated from ENSG00000021488 to ENSG00000021488 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ANK1 Gene migrated from ENSG00000029534 to ENSG00000029534 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 THBD Gene migrated from ENSG00000178726 to ENSG00000178726 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LAMB2 Gene migrated from ENSG00000172037 to ENSG00000172037 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TGIF1 Gene migrated from ENSG00000177426 to ENSG00000177426 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SIX5 Gene migrated from ENSG00000177045 to ENSG00000177045 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SIX2 Gene migrated from ENSG00000170577 to ENSG00000170577 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC13A5 Gene migrated from ENSG00000141485 to ENSG00000141485 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PIK3CA Gene migrated from ENSG00000121879 to ENSG00000121879 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HPRT1 Gene migrated from ENSG00000165704 to ENSG00000165704 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EPS8L2 Gene migrated from ENSG00000177106 to ENSG00000177106 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RELN Gene migrated from ENSG00000189056 to ENSG00000189056 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NUP155 Gene migrated from ENSG00000113569 to ENSG00000113569 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LPIN2 Gene migrated from ENSG00000101577 to ENSG00000101577 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LMNB2 Gene migrated from ENSG00000176619 to ENSG00000176619 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FXN Gene migrated from ENSG00000165060 to ENSG00000165060 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ISL1 Gene migrated from ENSG00000016082 to ENSG00000016082 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FANCM Gene migrated from ENSG00000187790 to ENSG00000187790 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ECE1 Gene migrated from ENSG00000117298 to ENSG00000117298 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CSTA Gene migrated from ENSG00000121552 to ENSG00000121552 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NEU1 Gene migrated from ENSG00000204386 to ENSG00000204386 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 VPS33B Gene migrated from ENSG00000184056 to ENSG00000184056 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SOX9 Gene migrated from ENSG00000125398 to ENSG00000125398 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPL26 Gene migrated from ENSG00000161970 to ENSG00000161970 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NLGN3 Gene migrated from ENSG00000196338 to ENSG00000196338 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CTSK Gene migrated from ENSG00000143387 to ENSG00000143387 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BBS10 Gene migrated from ENSG00000179941 to ENSG00000179941 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CUL7 Gene migrated from ENSG00000044090 to ENSG00000044090 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CCNQ Gene symbol changed from FAM58A to CCNQ during gene set migration (ENSG00000262919 -> ENSG00000262919)
Genomic newborn screening: BabyScreen+ v2.0 WFS1 Gene migrated from ENSG00000109501 to ENSG00000109501 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PNKD Gene migrated from ENSG00000127838 to ENSG00000127838 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PMP22 Gene migrated from ENSG00000109099 to ENSG00000109099 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COL6A1 Gene migrated from ENSG00000142156 to ENSG00000142156 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PLP1 Gene migrated from ENSG00000123560 to ENSG00000123560 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PKHD1 Gene migrated from ENSG00000170927 to ENSG00000170927 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 OCA2 Gene migrated from ENSG00000104044 to ENSG00000104044 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COL6A2 Gene migrated from ENSG00000142173 to ENSG00000142173 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 L1CAM Gene migrated from ENSG00000198910 to ENSG00000198910 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PIEZO2 Gene migrated from ENSG00000154864 to ENSG00000154864 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GNS Gene migrated from ENSG00000135677 to ENSG00000135677 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TBC1D24 Gene migrated from ENSG00000162065 to ENSG00000162065 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SURF1 Gene migrated from ENSG00000148290 to ENSG00000148290 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 STXBP1 Gene migrated from ENSG00000136854 to ENSG00000136854 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SRCAP Gene migrated from ENSG00000080603 to ENSG00000080603 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PTH1R Gene migrated from ENSG00000160801 to ENSG00000160801 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SPTA1 Gene migrated from ENSG00000163554 to ENSG00000163554 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PYGM Gene migrated from ENSG00000068976 to ENSG00000068976 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GNPTG Gene migrated from ENSG00000090581 to ENSG00000090581 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HCFC1 Gene migrated from ENSG00000172534 to ENSG00000172534 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 F5 Gene migrated from ENSG00000198734 to ENSG00000198734 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HOMER2 Gene migrated from ENSG00000103942 to ENSG00000103942 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HPS1 Gene migrated from ENSG00000107521 to ENSG00000107521 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HPS3 Gene migrated from ENSG00000163755 to ENSG00000163755 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 F2 Gene migrated from ENSG00000180210 to ENSG00000180210 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HPS4 Gene migrated from ENSG00000100099 to ENSG00000100099 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HPS5 Gene migrated from ENSG00000110756 to ENSG00000110756 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HSD17B10 Gene migrated from ENSG00000072506 to ENSG00000072506 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 F11 Gene migrated from ENSG00000088926 to ENSG00000088926 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HSD17B3 Gene migrated from ENSG00000130948 to ENSG00000130948 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HSD17B4 Gene migrated from ENSG00000133835 to ENSG00000133835 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HSPB8 Gene migrated from ENSG00000152137 to ENSG00000152137 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HSPG2 Gene migrated from ENSG00000142798 to ENSG00000142798 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HTRA1 Gene migrated from ENSG00000166033 to ENSG00000166033 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CDAN1 Gene migrated from ENSG00000140326 to ENSG00000140326 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SNAP25 Gene migrated from ENSG00000132639 to ENSG00000132639 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SMC1A Gene migrated from ENSG00000072501 to ENSG00000072501 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IGHMBP2 Gene migrated from ENSG00000132740 to ENSG00000132740 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 THRB Gene migrated from ENSG00000151090 to ENSG00000151090 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPS15 Gene migrated from ENSG00000115268 to ENSG00000115268 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IQCB1 Gene migrated from ENSG00000173226 to ENSG00000173226 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 INVS Gene migrated from ENSG00000119509 to ENSG00000119509 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IRF6 Gene migrated from ENSG00000117595 to ENSG00000117595 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CRPPA Gene symbol changed from ISPD to CRPPA during gene set migration (ENSG00000214960 -> ENSG00000214960)
Genomic newborn screening: BabyScreen+ v2.0 RRM2B Gene migrated from ENSG00000048392 to ENSG00000048392 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ITGA3 Gene migrated from ENSG00000005884 to ENSG00000005884 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RUNX2 Gene migrated from ENSG00000124813 to ENSG00000124813 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ITGB4 Gene migrated from ENSG00000132470 to ENSG00000132470 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 INSR Gene migrated from ENSG00000171105 to ENSG00000171105 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PROS1 Gene migrated from ENSG00000184500 to ENSG00000184500 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 POMT2 Gene migrated from ENSG00000009830 to ENSG00000009830 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 JAG1 Gene migrated from ENSG00000101384 to ENSG00000101384 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KARS1 Gene symbol changed from KARS to KARS1 during gene set migration (ENSG00000065427 -> ENSG00000065427)
Genomic newborn screening: BabyScreen+ v2.0 POMGNT1 Gene migrated from ENSG00000085998 to ENSG00000085998 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KANSL1 Gene migrated from ENSG00000120071 to ENSG00000120071 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 POLG Gene migrated from ENSG00000140521 to ENSG00000140521 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCTD7 Gene migrated from ENSG00000243335 to ENSG00000243335 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HGSNAT Gene migrated from ENSG00000165102 to ENSG00000165102 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC6A19 Gene migrated from ENSG00000174358 to ENSG00000174358 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HEXB Gene migrated from ENSG00000049860 to ENSG00000049860 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HEXA Gene migrated from ENSG00000213614 to ENSG00000213614 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HDAC8 Gene migrated from ENSG00000147099 to ENSG00000147099 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GJC2 Gene migrated from ENSG00000198835 to ENSG00000198835 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GJB1 Gene migrated from ENSG00000169562 to ENSG00000169562 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DLL3 Gene migrated from ENSG00000090932 to ENSG00000090932 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TNNT3 Gene migrated from ENSG00000130595 to ENSG00000130595 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TPM3 Gene migrated from ENSG00000143549 to ENSG00000143549 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SNTA1 Gene migrated from ENSG00000101400 to ENSG00000101400 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PNKP Gene migrated from ENSG00000039650 to ENSG00000039650 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KRIT1 Gene migrated from ENSG00000001631 to ENSG00000001631 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 APOA5 Gene migrated from ENSG00000110243 to ENSG00000110243 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNA5 Gene migrated from ENSG00000130037 to ENSG00000130037 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GABRG2 Gene migrated from ENSG00000113327 to ENSG00000113327 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CDKN2A Gene migrated from ENSG00000147889 to ENSG00000147889 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PHOX2B Gene migrated from ENSG00000109132 to ENSG00000109132 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TRAC Gene migrated from ENSG00000277734 to ENSG00000277734 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PAX5 Gene migrated from ENSG00000196092 to ENSG00000196092 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MPZL2 Gene migrated from ENSG00000149573 to ENSG00000149573 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LMX1A Gene migrated from ENSG00000162761 to ENSG00000162761 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GPR161 Gene migrated from ENSG00000143147 to ENSG00000143147 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CTR9 Gene migrated from ENSG00000198730 to ENSG00000198730 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALK Gene migrated from ENSG00000171094 to ENSG00000171094 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SARS1 Gene symbol changed from SARS to SARS1 during gene set migration (ENSG00000031698 -> ENSG00000031698)
Genomic newborn screening: BabyScreen+ v2.0 SCARB2 Gene migrated from ENSG00000138760 to ENSG00000138760 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC1A3 Gene migrated from ENSG00000079215 to ENSG00000079215 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TNFAIP3 Gene migrated from ENSG00000118503 to ENSG00000118503 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TNFRSF13B Gene migrated from ENSG00000240505 to ENSG00000240505 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 THAP11 Gene migrated from ENSG00000168286 to ENSG00000168286 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TNFRSF13C Gene migrated from ENSG00000159958 to ENSG00000159958 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TNFRSF1A Gene migrated from ENSG00000067182 to ENSG00000067182 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 UCP2 Gene migrated from ENSG00000175567 to ENSG00000175567 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACADS Gene migrated from ENSG00000122971 to ENSG00000122971 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HARS2 Gene migrated from ENSG00000112855 to ENSG00000112855 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GPC3 Gene migrated from ENSG00000147257 to ENSG00000147257 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GPR143 Gene migrated from ENSG00000101850 to ENSG00000101850 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GPSM2 Gene migrated from ENSG00000121957 to ENSG00000121957 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GJA1 Gene migrated from ENSG00000152661 to ENSG00000152661 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KDM6A Gene migrated from ENSG00000147050 to ENSG00000147050 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KIF21A Gene migrated from ENSG00000139116 to ENSG00000139116 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KLF1 Gene migrated from ENSG00000105610 to ENSG00000105610 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FAM20C Gene migrated from ENSG00000177706 to ENSG00000177706 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FGD1 Gene migrated from ENSG00000102302 to ENSG00000102302 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FLNA Gene migrated from ENSG00000196924 to ENSG00000196924 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FOXC2 Gene migrated from ENSG00000176692 to ENSG00000176692 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FOXF1 Gene migrated from ENSG00000103241 to ENSG00000103241 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FRAS1 Gene migrated from ENSG00000138759 to ENSG00000138759 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FTL Gene migrated from ENSG00000087086 to ENSG00000087086 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EZH2 Gene migrated from ENSG00000106462 to ENSG00000106462 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EYA1 Gene migrated from ENSG00000104313 to ENSG00000104313 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ELN Gene migrated from ENSG00000049540 to ENSG00000049540 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ELP1 Gene migrated from ENSG00000070061 to ENSG00000070061 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EGR2 Gene migrated from ENSG00000122877 to ENSG00000122877 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TSC2 Gene migrated from ENSG00000103197 to ENSG00000103197 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EDARADD Gene migrated from ENSG00000186197 to ENSG00000186197 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DNM2 Gene migrated from ENSG00000079805 to ENSG00000079805 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DNAI1 Gene migrated from ENSG00000122735 to ENSG00000122735 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DNAH5 Gene migrated from ENSG00000039139 to ENSG00000039139 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DNAH11 Gene migrated from ENSG00000105877 to ENSG00000105877 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DNAAF1 Gene migrated from ENSG00000154099 to ENSG00000154099 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DNAJB6 Gene migrated from ENSG00000105993 to ENSG00000105993 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DMXL2 Gene migrated from ENSG00000104093 to ENSG00000104093 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DIAPH1 Gene migrated from ENSG00000131504 to ENSG00000131504 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GSDME Gene symbol changed from DFNA5 to GSDME during gene set migration (ENSG00000105928 -> ENSG00000105928)
Genomic newborn screening: BabyScreen+ v2.0 DDB2 Gene migrated from ENSG00000134574 to ENSG00000134574 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COL5A2 Gene migrated from ENSG00000204262 to ENSG00000204262 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COL7A1 Gene migrated from ENSG00000114270 to ENSG00000114270 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TWIST1 Gene migrated from ENSG00000122691 to ENSG00000122691 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COL5A1 Gene migrated from ENSG00000130635 to ENSG00000130635 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COL6A3 Gene migrated from ENSG00000163359 to ENSG00000163359 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CSF2RA Gene migrated from ENSG00000198223 to ENSG00000198223 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CTC1 Gene migrated from ENSG00000178971 to ENSG00000178971 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SHANK3 Gene migrated from ENSG00000251322 to ENSG00000251322 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PEX7 Gene migrated from ENSG00000112357 to ENSG00000112357 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CHD7 Gene migrated from ENSG00000171316 to ENSG00000171316 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ATP6V0A2 Gene migrated from ENSG00000185344 to ENSG00000185344 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALMS1 Gene migrated from ENSG00000116127 to ENSG00000116127 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CACNA1F Gene migrated from ENSG00000102001 to ENSG00000102001 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FKRP Gene migrated from ENSG00000181027 to ENSG00000181027 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COG5 Gene migrated from ENSG00000164597 to ENSG00000164597 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CLCN5 Gene migrated from ENSG00000171365 to ENSG00000171365 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CEP152 Gene migrated from ENSG00000103995 to ENSG00000103995 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CLDN19 Gene migrated from ENSG00000164007 to ENSG00000164007 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FOXC1 Gene migrated from ENSG00000054598 to ENSG00000054598 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACTN1 Gene migrated from ENSG00000072110 to ENSG00000072110 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CDT1 Gene migrated from ENSG00000167513 to ENSG00000167513 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CHM Gene migrated from ENSG00000188419 to ENSG00000188419 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MCOLN1 Gene migrated from ENSG00000090674 to ENSG00000090674 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ARX Gene migrated from ENSG00000004848 to ENSG00000004848 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ABCC2 Gene migrated from ENSG00000023839 to ENSG00000023839 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CDSN Gene migrated from ENSG00000204539 to ENSG00000204539 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ABCA3 Gene migrated from ENSG00000167972 to ENSG00000167972 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BIN1 Gene migrated from ENSG00000136717 to ENSG00000136717 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACTG1 Gene migrated from ENSG00000184009 to ENSG00000184009 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BICD2 Gene migrated from ENSG00000185963 to ENSG00000185963 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ODAD2 Gene symbol changed from ARMC4 to ODAD2 during gene set migration (ENSG00000169126 -> ENSG00000169126)
Genomic newborn screening: BabyScreen+ v2.0 ABCA12 Gene migrated from ENSG00000144452 to ENSG00000144452 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ATP8B1 Gene migrated from ENSG00000081923 to ENSG00000081923 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AR Gene migrated from ENSG00000169083 to ENSG00000169083 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CDKL5 Gene migrated from ENSG00000008086 to ENSG00000008086 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CHD2 Gene migrated from ENSG00000173575 to ENSG00000173575 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 OPA1 Gene migrated from ENSG00000198836 to ENSG00000198836 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CNGB3 Gene migrated from ENSG00000170289 to ENSG00000170289 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CLRN1 Gene migrated from ENSG00000163646 to ENSG00000163646 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DLD Gene migrated from ENSG00000091140 to ENSG00000091140 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CHKB Gene migrated from ENSG00000100288 to ENSG00000100288 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CFL2 Gene migrated from ENSG00000165410 to ENSG00000165410 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ATP1A2 Gene migrated from ENSG00000018625 to ENSG00000018625 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DGUOK Gene migrated from ENSG00000114956 to ENSG00000114956 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALDH5A1 Gene migrated from ENSG00000112294 to ENSG00000112294 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NHLRC1 Gene migrated from ENSG00000187566 to ENSG00000187566 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 APRT Gene migrated from ENSG00000198931 to ENSG00000198931 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALDH3A2 Gene migrated from ENSG00000072210 to ENSG00000072210 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 D2HGDH Gene migrated from ENSG00000180902 to ENSG00000180902 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SERPINA1 Gene migrated from ENSG00000197249 to ENSG00000197249 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALG6 Gene migrated from ENSG00000088035 to ENSG00000088035 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ARID1B Gene migrated from ENSG00000049618 to ENSG00000049618 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALB Gene migrated from ENSG00000163631 to ENSG00000163631 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALG3 Gene migrated from ENSG00000214160 to ENSG00000214160 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALG12 Gene migrated from ENSG00000182858 to ENSG00000182858 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AP4M1 Gene migrated from ENSG00000221838 to ENSG00000221838 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYH3 Gene migrated from ENSG00000109063 to ENSG00000109063 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALG1 Gene migrated from ENSG00000033011 to ENSG00000033011 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AP4E1 Gene migrated from ENSG00000081014 to ENSG00000081014 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AP4B1 Gene migrated from ENSG00000134262 to ENSG00000134262 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ANO10 Gene migrated from ENSG00000160746 to ENSG00000160746 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AIFM1 Gene migrated from ENSG00000156709 to ENSG00000156709 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CEP83 Gene migrated from ENSG00000173588 to ENSG00000173588 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COQ9 Gene migrated from ENSG00000088682 to ENSG00000088682 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ANKH Gene migrated from ENSG00000154122 to ENSG00000154122 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CCDC39 Gene migrated from ENSG00000145075 to ENSG00000284862 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MSX2 Gene migrated from ENSG00000120149 to ENSG00000120149 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AGA Gene migrated from ENSG00000038002 to ENSG00000038002 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BAAT Gene migrated from ENSG00000136881 to ENSG00000136881 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LAMB3 Gene migrated from ENSG00000196878 to ENSG00000196878 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BBS9 Gene migrated from ENSG00000122507 to ENSG00000122507 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ANK2 Gene migrated from ENSG00000145362 to ENSG00000145362 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BBS7 Gene migrated from ENSG00000138686 to ENSG00000138686 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ADAMTSL2 Gene migrated from ENSG00000197859 to ENSG00000197859 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MFN2 Gene migrated from ENSG00000116688 to ENSG00000116688 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALX4 Gene migrated from ENSG00000052850 to ENSG00000052850 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BBS4 Gene migrated from ENSG00000140463 to ENSG00000140463 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACTG2 Gene migrated from ENSG00000163017 to ENSG00000163017 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 VCP Gene migrated from ENSG00000165280 to ENSG00000165280 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MCPH1 Gene migrated from ENSG00000147316 to ENSG00000147316 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BBS12 Gene migrated from ENSG00000181004 to ENSG00000181004 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALS2 Gene migrated from ENSG00000003393 to ENSG00000003393 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CAV3 Gene migrated from ENSG00000182533 to ENSG00000182533 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALOX12B Gene migrated from ENSG00000179477 to ENSG00000179477 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WDR19 Gene migrated from ENSG00000157796 to ENSG00000157796 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 VSX1 Gene migrated from ENSG00000100987 to ENSG00000100987 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 VPS53 Gene migrated from ENSG00000141252 to ENSG00000141252 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 UTP4 Gene migrated from ENSG00000141076 to ENSG00000141076 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EVC2 Gene migrated from ENSG00000173040 to ENSG00000173040 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 UQCRQ Gene migrated from ENSG00000164405 to ENSG00000164405 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 UQCRB Gene migrated from ENSG00000156467 to ENSG00000156467 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 UGT1A5 Gene migrated from ENSG00000240224 to ENSG00000288705 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 UGT1A4 Gene migrated from ENSG00000244474 to ENSG00000244474 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 UBA1 Gene migrated from ENSG00000130985 to ENSG00000130985 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TUBA8 Gene migrated from ENSG00000183785 to ENSG00000183785 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TSPYL1 Gene migrated from ENSG00000189241 to ENSG00000189241 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TSPEAR Gene migrated from ENSG00000175894 to ENSG00000175894 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TSFM Gene migrated from ENSG00000123297 to ENSG00000123297 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TRPM2 Gene migrated from ENSG00000142185 to ENSG00000142185 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TGFB1 Gene migrated from ENSG00000105329 to ENSG00000105329 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TFR2 Gene migrated from ENSG00000106327 to ENSG00000106327 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TCTN3 Gene migrated from ENSG00000119977 to ENSG00000119977 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TCTN1 Gene migrated from ENSG00000204852 to ENSG00000204852 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TCAP Gene migrated from ENSG00000173991 to ENSG00000173991 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TBX20 Gene migrated from ENSG00000164532 to ENSG00000164532 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TBCE Gene migrated from ENSG00000116957 to ENSG00000284770 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TARDBP Gene migrated from ENSG00000120948 to ENSG00000120948 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TAB2 Gene migrated from ENSG00000055208 to ENSG00000055208 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SMAD9 Gene migrated from ENSG00000120693 to ENSG00000120693 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SMAD6 Gene migrated from ENSG00000137834 to ENSG00000137834 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SMAD1 Gene migrated from ENSG00000170365 to ENSG00000170365 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LAMP2 Gene migrated from ENSG00000005893 to ENSG00000005893 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TECRL Gene migrated from ENSG00000205678 to ENSG00000205678 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TRNT1 Gene migrated from ENSG00000072756 to ENSG00000072756 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TNNT2 Gene migrated from ENSG00000118194 to ENSG00000118194 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TNNI3 Gene migrated from ENSG00000129991 to ENSG00000129991 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HBA2 Gene migrated from ENSG00000188536 to ENSG00000188536 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HBA1 Gene migrated from ENSG00000206172 to ENSG00000206172 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 F8 Gene migrated from ENSG00000185010 to ENSG00000185010 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYL2 Gene migrated from ENSG00000111245 to ENSG00000111245 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RNASEH2B Gene migrated from ENSG00000136104 to ENSG00000136104 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RNASEH2C Gene migrated from ENSG00000172922 to ENSG00000172922 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SCN5A Gene migrated from ENSG00000183873 to ENSG00000183873 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TPM1 Gene migrated from ENSG00000140416 to ENSG00000140416 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MEN1 Gene migrated from ENSG00000133895 to ENSG00000133895 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYLK Gene migrated from ENSG00000065534 to ENSG00000065534 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CALM1 Gene migrated from ENSG00000198668 to ENSG00000198668 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC39A14 Gene migrated from ENSG00000104635 to ENSG00000104635 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYH11 Gene migrated from ENSG00000133392 to ENSG00000133392 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TOP2B Gene migrated from ENSG00000077097 to ENSG00000077097 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 UNG Gene migrated from ENSG00000076248 to ENSG00000076248 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC16A2 Gene migrated from ENSG00000147100 to ENSG00000147100 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PMS2 Gene migrated from ENSG00000122512 to ENSG00000122512 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ERCC6L2 Gene migrated from ENSG00000182150 to ENSG00000182150 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AMT Gene migrated from ENSG00000145020 to ENSG00000145020 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GLDC Gene migrated from ENSG00000178445 to ENSG00000178445 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AP3D1 Gene migrated from ENSG00000065000 to ENSG00000065000 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DMD Gene migrated from ENSG00000198947 to ENSG00000198947 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GNE Gene migrated from ENSG00000159921 to ENSG00000159921 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 STRC Gene migrated from ENSG00000242866 to ENSG00000242866 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC9A3 Gene migrated from ENSG00000066230 to ENSG00000066230 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HGD Gene migrated from ENSG00000113924 to ENSG00000113924 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DSP Gene migrated from ENSG00000096696 to ENSG00000096696 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HMGCS2 Gene migrated from ENSG00000134240 to ENSG00000134240 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DSG2 Gene migrated from ENSG00000046604 to ENSG00000046604 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CLN6 Gene migrated from ENSG00000128973 to ENSG00000128973 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DSC2 Gene migrated from ENSG00000134755 to ENSG00000134755 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PSPH Gene migrated from ENSG00000146733 to ENSG00000146733 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PKD2 Gene migrated from ENSG00000118762 to ENSG00000118762 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HNF1A Gene migrated from ENSG00000135100 to ENSG00000135100 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AGPAT2 Gene migrated from ENSG00000169692 to ENSG00000169692 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HNF4A Gene migrated from ENSG00000101076 to ENSG00000101076 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COQ7 Gene migrated from ENSG00000167186 to ENSG00000167186 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PKP2 Gene migrated from ENSG00000057294 to ENSG00000057294 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SPTLC1 Gene migrated from ENSG00000090054 to ENSG00000090054 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CLN3 Gene migrated from ENSG00000188603 to ENSG00000188603 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PRKG1 Gene migrated from ENSG00000185532 to ENSG00000185532 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SMARCAL1 Gene migrated from ENSG00000138375 to ENSG00000138375 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NLRP3 Gene migrated from ENSG00000162711 to ENSG00000162711 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 USP18 Gene migrated from ENSG00000184979 to ENSG00000184979 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TMEM165 Gene migrated from ENSG00000134851 to ENSG00000134851 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CACNA1C Gene migrated from ENSG00000151067 to ENSG00000151067 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LOX Gene migrated from ENSG00000113083 to ENSG00000113083 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IKBKG Gene migrated from ENSG00000269335 to ENSG00000269335 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC6A8 Gene migrated from ENSG00000130821 to ENSG00000130821 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC16A1 Gene migrated from ENSG00000155380 to ENSG00000155380 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CP Gene migrated from ENSG00000047457 to ENSG00000047457 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COL3A1 Gene migrated from ENSG00000168542 to ENSG00000168542 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 VWF Gene migrated from ENSG00000110799 to ENSG00000110799 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC6A5 Gene migrated from ENSG00000165970 to ENSG00000165970 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 VCL Gene migrated from ENSG00000035403 to ENSG00000035403 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TTN Gene migrated from ENSG00000155657 to ENSG00000155657 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TRDN Gene migrated from ENSG00000186439 to ENSG00000186439 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PKD1 Gene migrated from ENSG00000008710 to ENSG00000008710 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RBM20 Gene migrated from ENSG00000203867 to ENSG00000203867 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TNNC1 Gene migrated from ENSG00000114854 to ENSG00000114854 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SP7 Gene migrated from ENSG00000170374 to ENSG00000170374 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TINF2 Gene migrated from ENSG00000092330 to ENSG00000092330 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TERT Gene migrated from ENSG00000164362 to ENSG00000164362 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TERC Gene migrated from ENSG00000270141 to ENSG00000270141 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MCFD2 Gene migrated from ENSG00000180398 to ENSG00000180398 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SDHC Gene migrated from ENSG00000143252 to ENSG00000143252 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SDHAF2 Gene migrated from ENSG00000167985 to ENSG00000167985 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GFAP Gene migrated from ENSG00000131095 to ENSG00000131095 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SDHB Gene migrated from ENSG00000117118 to ENSG00000117118 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ADAR Gene migrated from ENSG00000160710 to ENSG00000160710 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IFNGR2 Gene migrated from ENSG00000159128 to ENSG00000159128 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYL3 Gene migrated from ENSG00000160808 to ENSG00000160808 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IFNGR1 Gene migrated from ENSG00000027697 to ENSG00000027697 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 JUP Gene migrated from ENSG00000173801 to ENSG00000173801 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CASQ2 Gene migrated from ENSG00000118729 to ENSG00000118729 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AP1B1 Gene migrated from ENSG00000100280 to ENSG00000100280 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SAMHD1 Gene migrated from ENSG00000101347 to ENSG00000101347 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ZBTB24 Gene migrated from ENSG00000112365 to ENSG00000112365 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IARS1 Gene symbol changed from IARS to IARS1 during gene set migration (ENSG00000196305 -> ENSG00000196305)
Genomic newborn screening: BabyScreen+ v2.0 TNFSF11 Gene migrated from ENSG00000120659 to ENSG00000120659 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CLN5 Gene migrated from ENSG00000102805 to ENSG00000102805 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NCF1 Gene migrated from ENSG00000158517 to ENSG00000158517 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NAXD Gene migrated from ENSG00000213995 to ENSG00000213995 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC35C1 Gene migrated from ENSG00000181830 to ENSG00000181830 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TREX1 Gene migrated from ENSG00000213689 to ENSG00000213689 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CALM2 Gene migrated from ENSG00000143933 to ENSG00000143933 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SOX3 Gene migrated from ENSG00000134595 to ENSG00000134595 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SGSH Gene migrated from ENSG00000181523 to ENSG00000181523 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TNFRSF11B Gene migrated from ENSG00000164761 to ENSG00000164761 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC25A1 Gene migrated from ENSG00000100075 to ENSG00000100075 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SUOX Gene migrated from ENSG00000139531 to ENSG00000139531 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RNASEH2A Gene migrated from ENSG00000104889 to ENSG00000104889 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 STK11 Gene migrated from ENSG00000118046 to ENSG00000118046 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CALM3 Gene migrated from ENSG00000160014 to ENSG00000160014 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 VAMP1 Gene migrated from ENSG00000139190 to ENSG00000139190 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FUCA1 Gene migrated from ENSG00000179163 to ENSG00000179163 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SERPINH1 Gene migrated from ENSG00000149257 to ENSG00000149257 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SERPINF1 Gene migrated from ENSG00000132386 to ENSG00000132386 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TSHR Gene migrated from ENSG00000165409 to ENSG00000165409 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GALE Gene migrated from ENSG00000117308 to ENSG00000117308 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SGPL1 Gene migrated from ENSG00000166224 to ENSG00000166224 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC19A2 Gene migrated from ENSG00000117479 to ENSG00000117479 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SMARCD2 Gene migrated from ENSG00000108604 to ENSG00000108604 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 STK4 Gene migrated from ENSG00000101109 to ENSG00000101109 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 STX16 Gene migrated from ENSG00000124222 to ENSG00000124222 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SNX10 Gene migrated from ENSG00000086300 to ENSG00000086300 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GALC Gene migrated from ENSG00000054983 to ENSG00000054983 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 STAT1 Gene migrated from ENSG00000115415 to ENSG00000115415 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 STIM1 Gene migrated from ENSG00000167323 to ENSG00000167323 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SYT2 Gene migrated from ENSG00000143858 to ENSG00000143858 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SAMD9L Gene migrated from ENSG00000177409 to ENSG00000177409 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 OAS1 Gene migrated from ENSG00000089127 to ENSG00000089127 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC12A1 Gene migrated from ENSG00000074803 to ENSG00000074803 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYD88 Gene migrated from ENSG00000172936 to ENSG00000172936 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GALK1 Gene migrated from ENSG00000108479 to ENSG00000108479 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IL1RN Gene migrated from ENSG00000136689 to ENSG00000136689 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IKZF1 Gene migrated from ENSG00000185811 to ENSG00000185811 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IKBKB Gene migrated from ENSG00000104365 to ENSG00000104365 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IFITM5 Gene migrated from ENSG00000206013 to ENSG00000206013 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ICOS Gene migrated from ENSG00000163600 to ENSG00000163600 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TSHB Gene migrated from ENSG00000134200 to ENSG00000134200 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HSD11B2 Gene migrated from ENSG00000176387 to ENSG00000176387 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GPIHBP1 Gene migrated from ENSG00000277494 to ENSG00000277494 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SAR1B Gene migrated from ENSG00000152700 to ENSG00000152700 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GHRHR Gene migrated from ENSG00000106128 to ENSG00000106128 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GHR Gene migrated from ENSG00000112964 to ENSG00000112964 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GH1 Gene migrated from ENSG00000259384 to ENSG00000259384 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NFKBIA Gene migrated from ENSG00000100906 to ENSG00000100906 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WIPF1 Gene migrated from ENSG00000115935 to ENSG00000115935 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WDR72 Gene migrated from ENSG00000166415 to ENSG00000166415 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WNK4 Gene migrated from ENSG00000126562 to ENSG00000126562 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALDOB Gene migrated from ENSG00000136872 to ENSG00000136872 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IL21R Gene migrated from ENSG00000103522 to ENSG00000103522 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CYB561 Gene migrated from ENSG00000008283 to ENSG00000008283 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TPP1 Gene migrated from ENSG00000166340 to ENSG00000166340 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CORO1A Gene migrated from ENSG00000102879 to ENSG00000102879 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CDCA7 Gene migrated from ENSG00000144354 to ENSG00000144354 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AAAS Gene migrated from ENSG00000094914 to ENSG00000094914 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CD70 Gene migrated from ENSG00000125726 to ENSG00000125726 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CD55 Gene migrated from ENSG00000196352 to ENSG00000196352 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LIG1 Gene migrated from ENSG00000105486 to ENSG00000105486 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FCHO1 Gene migrated from ENSG00000130475 to ENSG00000130475 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PNP Gene migrated from ENSG00000198805 to ENSG00000198805 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ETFB Gene migrated from ENSG00000105379 to ENSG00000105379 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC52A3 Gene migrated from ENSG00000101276 to ENSG00000101276 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HIBCH Gene migrated from ENSG00000198130 to ENSG00000198130 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALDH7A1 Gene migrated from ENSG00000164904 to ENSG00000164904 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GLIS3 Gene migrated from ENSG00000107249 to ENSG00000107249 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BCHE Gene migrated from ENSG00000114200 to ENSG00000114200 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DDC Gene migrated from ENSG00000132437 to ENSG00000132437 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TANGO2 Gene migrated from ENSG00000183597 to ENSG00000183597 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NKX2-5 Gene migrated from ENSG00000183072 to ENSG00000183072 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HBB Gene migrated from ENSG00000244734 to ENSG00000244734 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNQ1 Gene migrated from ENSG00000053918 to ENSG00000053918 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNH2 Gene migrated from ENSG00000055118 to ENSG00000055118 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ETFA Gene migrated from ENSG00000140374 to ENSG00000140374 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GRXCR1 Gene migrated from ENSG00000215203 to ENSG00000215203 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TPO Gene migrated from ENSG00000115705 to ENSG00000115705 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TNFRSF11A Gene migrated from ENSG00000141655 to ENSG00000141655 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COQ4 Gene migrated from ENSG00000167113 to ENSG00000167113 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC35A2 Gene migrated from ENSG00000102100 to ENSG00000102100 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 C7 Gene migrated from ENSG00000112936 to ENSG00000112936 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CYP27B1 Gene migrated from ENSG00000111012 to ENSG00000111012 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ETFDH Gene migrated from ENSG00000171503 to ENSG00000171503 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GATA4 Gene migrated from ENSG00000136574 to ENSG00000136574 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FGF3 Gene migrated from ENSG00000186895 to ENSG00000186895 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CYP17A1 Gene migrated from ENSG00000148795 to ENSG00000148795 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NAGLU Gene migrated from ENSG00000108784 to ENSG00000108784 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HADHB Gene migrated from ENSG00000138029 to ENSG00000138029 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FANCG Gene migrated from ENSG00000221829 to ENSG00000221829 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CLPP Gene migrated from ENSG00000125656 to ENSG00000125656 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CYP11B1 Gene migrated from ENSG00000160882 to ENSG00000160882 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACADM Gene migrated from ENSG00000117054 to ENSG00000117054 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FLAD1 Gene migrated from ENSG00000160688 to ENSG00000160688 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TK2 Gene migrated from ENSG00000166548 to ENSG00000166548 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CPS1 Gene migrated from ENSG00000021826 to ENSG00000021826 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TH Gene migrated from ENSG00000180176 to ENSG00000180176 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ESPN Gene migrated from ENSG00000187017 to ENSG00000187017 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BTD Gene migrated from ENSG00000169814 to ENSG00000169814 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 THRA Gene migrated from ENSG00000126351 to ENSG00000126351 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC5A5 Gene migrated from ENSG00000105641 to ENSG00000105641 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EPS8 Gene migrated from ENSG00000151491 to ENSG00000151491 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ENPP1 Gene migrated from ENSG00000197594 to ENSG00000197594 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CBS Gene migrated from ENSG00000160200 to ENSG00000160200 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACVRL1 Gene migrated from ENSG00000139567 to ENSG00000139567 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DCLRE1C Gene migrated from ENSG00000152457 to ENSG00000152457 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PCDH15 Gene migrated from ENSG00000150275 to ENSG00000150275 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CRTAP Gene migrated from ENSG00000170275 to ENSG00000170275 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CSF3R Gene migrated from ENSG00000119535 to ENSG00000119535 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CXCR4 Gene migrated from ENSG00000121966 to ENSG00000121966 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SH2D1A Gene migrated from ENSG00000183918 to ENSG00000183918 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MT-RNR1 Gene migrated from ENSG00000211459 to ENSG00000211459 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 UGT1A1 Gene migrated from ENSG00000241635 to ENSG00000241635 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ETHE1 Gene migrated from ENSG00000105755 to ENSG00000105755 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CD79B Gene migrated from ENSG00000007312 to ENSG00000007312 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RMRP Gene migrated from ENSG00000269900 to ENSG00000277027 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC39A4 Gene migrated from ENSG00000147804 to ENSG00000147804 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CLCN7 Gene migrated from ENSG00000103249 to ENSG00000103249 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GCH1 Gene migrated from ENSG00000131979 to ENSG00000131979 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 G6PD Gene migrated from ENSG00000160211 to ENSG00000160211 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC34A3 Gene migrated from ENSG00000198569 to ENSG00000198569 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CA2 Gene migrated from ENSG00000104267 to ENSG00000104267 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TAT Gene migrated from ENSG00000198650 to ENSG00000198650 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 VDR Gene migrated from ENSG00000111424 to ENSG00000111424 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACAD9 Gene migrated from ENSG00000177646 to ENSG00000177646 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 REST Gene migrated from ENSG00000084093 to ENSG00000084093 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WNK1 Gene migrated from ENSG00000060237 to ENSG00000060237 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PPOX Gene migrated from ENSG00000143224 to ENSG00000143224 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 POMC Gene migrated from ENSG00000115138 to ENSG00000115138 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 POLE Gene migrated from ENSG00000177084 to ENSG00000177084 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NCF4 Gene migrated from ENSG00000100365 to ENSG00000100365 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GALNT3 Gene migrated from ENSG00000115339 to ENSG00000115339 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FECH Gene migrated from ENSG00000066926 to ENSG00000066926 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 F13B Gene migrated from ENSG00000143278 to ENSG00000143278 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 F10 Gene migrated from ENSG00000126218 to ENSG00000126218 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CYP7B1 Gene migrated from ENSG00000172817 to ENSG00000172817 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ERCC4 Gene migrated from ENSG00000175595 to ENSG00000175595 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COQ6 Gene migrated from ENSG00000119723 to ENSG00000119723 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COQ2 Gene migrated from ENSG00000173085 to ENSG00000173085 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CUL3 Gene migrated from ENSG00000036257 to ENSG00000036257 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AMACR Gene migrated from ENSG00000242110 to ENSG00000242110 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TPRN Gene migrated from ENSG00000176058 to ENSG00000176058 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC25A13 Gene migrated from ENSG00000004864 to ENSG00000004864 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 UBE2T Gene migrated from ENSG00000077152 to ENSG00000077152 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ARSB Gene migrated from ENSG00000113273 to ENSG00000113273 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 C2 Gene migrated from ENSG00000166278 to ENSG00000166278 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PDP1 Gene migrated from ENSG00000164951 to ENSG00000164951 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PDHB Gene migrated from ENSG00000168291 to ENSG00000168291 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ATP6V1B1 Gene migrated from ENSG00000116039 to ENSG00000116039 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CYP27A1 Gene migrated from ENSG00000135929 to ENSG00000135929 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SMN1 Gene migrated from ENSG00000172062 to ENSG00000172062 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SMPD1 Gene migrated from ENSG00000166311 to ENSG00000166311 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GREB1L Gene migrated from ENSG00000141449 to ENSG00000141449 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC22A5 Gene migrated from ENSG00000197375 to ENSG00000197375 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GALNS Gene migrated from ENSG00000141012 to ENSG00000141012 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ATP6V0A4 Gene migrated from ENSG00000105929 to ENSG00000105929 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AHCY Gene migrated from ENSG00000101444 to ENSG00000101444 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CPT1A Gene migrated from ENSG00000110090 to ENSG00000110090 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC25A15 Gene migrated from ENSG00000102743 to ENSG00000102743 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 STAT3 Gene migrated from ENSG00000168610 to ENSG00000168610 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CD40LG Gene migrated from ENSG00000102245 to ENSG00000102245 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BCKDHB Gene migrated from ENSG00000083123 to ENSG00000083123 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ADAMTS13 Gene migrated from ENSG00000160323 to ENSG00000160323 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AGRN Gene migrated from ENSG00000188157 to ENSG00000188157 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CIB2 Gene migrated from ENSG00000136425 to ENSG00000136425 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 XIAP Gene migrated from ENSG00000101966 to ENSG00000101966 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ADA Gene migrated from ENSG00000196839 to ENSG00000196839 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CHRNA1 Gene migrated from ENSG00000138435 to ENSG00000138435 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ABCG5 Gene migrated from ENSG00000138075 to ENSG00000138075 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WHRN Gene migrated from ENSG00000095397 to ENSG00000095397 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BRIP1 Gene migrated from ENSG00000136492 to ENSG00000136492 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DBT Gene migrated from ENSG00000137992 to ENSG00000137992 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ABCD1 Gene migrated from ENSG00000101986 to ENSG00000101986 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COL13A1 Gene migrated from ENSG00000197467 to ENSG00000197467 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC25A20 Gene migrated from ENSG00000178537 to ENSG00000178537 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WAS Gene migrated from ENSG00000015285 to ENSG00000015285 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ASS1 Gene migrated from ENSG00000130707 to ENSG00000130707 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 VHL Gene migrated from ENSG00000134086 to ENSG00000134086 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SPR Gene migrated from ENSG00000116096 to ENSG00000116096 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACADVL Gene migrated from ENSG00000072778 to ENSG00000072778 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ATP7B Gene migrated from ENSG00000123191 to ENSG00000123191 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HMGCL Gene migrated from ENSG00000117305 to ENSG00000117305 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TRIM28 Gene migrated from ENSG00000130726 to ENSG00000130726 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MALT1 Gene migrated from ENSG00000172175 to ENSG00000172175 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MAGT1 Gene migrated from ENSG00000102158 to ENSG00000102158 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LRBA Gene migrated from ENSG00000198589 to ENSG00000198589 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PDZD7 Gene migrated from ENSG00000186862 to ENSG00000186862 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IL36RN Gene migrated from ENSG00000136695 to ENSG00000136695 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IL2RA Gene migrated from ENSG00000134460 to ENSG00000134460 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PDX1 Gene migrated from ENSG00000139515 to ENSG00000139515 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TPK1 Gene migrated from ENSG00000196511 to ENSG00000196511 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PDHX Gene migrated from ENSG00000110435 to ENSG00000110435 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HOGA1 Gene migrated from ENSG00000241935 to ENSG00000241935 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HELLS Gene migrated from ENSG00000119969 to ENSG00000119969 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WDR1 Gene migrated from ENSG00000071127 to ENSG00000071127 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LEP Gene migrated from ENSG00000174697 to ENSG00000174697 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 JAGN1 Gene migrated from ENSG00000171135 to ENSG00000171135 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ITK Gene migrated from ENSG00000113263 to ENSG00000113263 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IRS4 Gene migrated from ENSG00000133124 to ENSG00000133124 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TRPM6 Gene migrated from ENSG00000119121 to ENSG00000119121 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GFI1 Gene migrated from ENSG00000162676 to ENSG00000162676 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 VKORC1 Gene migrated from ENSG00000167397 to ENSG00000167397 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FOLR1 Gene migrated from ENSG00000110195 to ENSG00000110195 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FAM111A Gene migrated from ENSG00000166801 to ENSG00000166801 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DOCK2 Gene migrated from ENSG00000134516 to ENSG00000134516 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DNASE2 Gene migrated from ENSG00000105612 to ENSG00000105612 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DNAJC21 Gene migrated from ENSG00000168724 to ENSG00000168724 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CYP2R1 Gene migrated from ENSG00000186104 to ENSG00000186104 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CYBC1 Gene symbol changed from C17orf62 to CYBC1 during gene set migration (ENSG00000178927 -> ENSG00000178927)
Genomic newborn screening: BabyScreen+ v2.0 CD40 Gene migrated from ENSG00000101017 to ENSG00000101017 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CD3G Gene migrated from ENSG00000160654 to ENSG00000160654 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CD27 Gene migrated from ENSG00000139193 to ENSG00000139193 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CD247 Gene migrated from ENSG00000198821 to ENSG00000198821 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CD19 Gene migrated from ENSG00000177455 to ENSG00000177455 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CAV1 Gene migrated from ENSG00000105974 to ENSG00000105974 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PRDX1 Gene migrated from ENSG00000117450 to ENSG00000117450 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GATM Gene migrated from ENSG00000171766 to ENSG00000171766 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALDH4A1 Gene migrated from ENSG00000159423 to ENSG00000159423 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FOXE1 Gene migrated from ENSG00000178919 to ENSG00000178919 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ITGB2 Gene migrated from ENSG00000160255 to ENSG00000160255 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ABCD4 Gene migrated from ENSG00000119688 to ENSG00000119688 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 UMPS Gene migrated from ENSG00000114491 to ENSG00000114491 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACTA2 Gene migrated from ENSG00000107796 to ENSG00000107796 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RUNX1 Gene migrated from ENSG00000159216 to ENSG00000159216 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC25A19 Gene migrated from ENSG00000125454 to ENSG00000125454 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HAX1 Gene migrated from ENSG00000143575 to ENSG00000143575 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PCCB Gene migrated from ENSG00000114054 to ENSG00000114054 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GOT2 Gene migrated from ENSG00000125166 to ENSG00000125166 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PCCA Gene migrated from ENSG00000175198 to ENSG00000175198 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CASR Gene migrated from ENSG00000036828 to ENSG00000036828 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GCM2 Gene migrated from ENSG00000124827 to ENSG00000124827 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GRHPR Gene migrated from ENSG00000137106 to ENSG00000137106 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PC Gene migrated from ENSG00000173599 to ENSG00000173599 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PAX8 Gene migrated from ENSG00000125618 to ENSG00000125618 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GUSB Gene migrated from ENSG00000169919 to ENSG00000169919 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC19A3 Gene migrated from ENSG00000135917 to ENSG00000135917 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GYS2 Gene migrated from ENSG00000111713 to ENSG00000111713 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PGM1 Gene migrated from ENSG00000079739 to ENSG00000079739 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PCBD1 Gene migrated from ENSG00000166228 to ENSG00000166228 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COL4A3 Gene migrated from ENSG00000169031 to ENSG00000169031 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PALB2 Gene migrated from ENSG00000083093 to ENSG00000083093 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FANCA Gene migrated from ENSG00000187741 to ENSG00000187741 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FANCB Gene migrated from ENSG00000181544 to ENSG00000181544 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FANCC Gene migrated from ENSG00000158169 to ENSG00000158169 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FANCD2 Gene migrated from ENSG00000144554 to ENSG00000144554 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FERMT3 Gene migrated from ENSG00000149781 to ENSG00000149781 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HSD3B2 Gene migrated from ENSG00000203859 to ENSG00000203859 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IVD Gene migrated from ENSG00000128928 to ENSG00000128928 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FGFR3 Gene migrated from ENSG00000068078 to ENSG00000068078 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FBN1 Gene migrated from ENSG00000166147 to ENSG00000166147 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COL4A4 Gene migrated from ENSG00000081052 to ENSG00000081052 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PAH Gene migrated from ENSG00000171759 to ENSG00000171759 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FOXP3 Gene migrated from ENSG00000049768 to ENSG00000049768 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 OTOGL Gene migrated from ENSG00000165899 to ENSG00000165899 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 OXCT1 Gene migrated from ENSG00000083720 to ENSG00000083720 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 OTOF Gene migrated from ENSG00000115155 to ENSG00000115155 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 OTC Gene migrated from ENSG00000036473 to ENSG00000036473 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HSD3B7 Gene migrated from ENSG00000099377 to ENSG00000099377 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CACNA1S Gene migrated from ENSG00000081248 to ENSG00000081248 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EIF2AK3 Gene migrated from ENSG00000172071 to ENSG00000172071 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 C6 Gene migrated from ENSG00000039537 to ENSG00000039537 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EFL1 Gene migrated from ENSG00000140598 to ENSG00000140598 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DUOX2 Gene migrated from ENSG00000140279 to ENSG00000140279 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BRCA1 Gene migrated from ENSG00000012048 to ENSG00000012048 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BRCA2 Gene migrated from ENSG00000139618 to ENSG00000139618 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LHX3 Gene migrated from ENSG00000107187 to ENSG00000107187 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ARG1 Gene migrated from ENSG00000118520 to ENSG00000118520 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NR5A1 Gene migrated from ENSG00000136931 to ENSG00000136931 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NR0B1 Gene migrated from ENSG00000169297 to ENSG00000169297 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NR3C2 Gene migrated from ENSG00000151623 to ENSG00000151623 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IYD Gene migrated from ENSG00000009765 to ENSG00000009765 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CIITA Gene migrated from ENSG00000179583 to ENSG00000179583 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COL4A5 Gene migrated from ENSG00000188153 to ENSG00000188153 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CTPS1 Gene migrated from ENSG00000171793 to ENSG00000171793 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 UROS Gene migrated from ENSG00000188690 to ENSG00000188690 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NPC2 Gene migrated from ENSG00000119655 to ENSG00000119655 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NPC1 Gene migrated from ENSG00000141458 to ENSG00000141458 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FH Gene migrated from ENSG00000091483 to ENSG00000091483 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COL9A3 Gene migrated from ENSG00000092758 to ENSG00000092758 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PAX3 Gene migrated from ENSG00000135903 to ENSG00000135903 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CAD Gene migrated from ENSG00000084774 to ENSG00000084774 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COL1A2 Gene migrated from ENSG00000164692 to ENSG00000164692 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PDHA1 Gene migrated from ENSG00000131828 to ENSG00000131828 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NNT Gene migrated from ENSG00000112992 to ENSG00000112992 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NKX2-1 Gene migrated from ENSG00000136352 to ENSG00000136352 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CYBA Gene migrated from ENSG00000051523 to ENSG00000051523 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FAH Gene migrated from ENSG00000103876 to ENSG00000103876 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CARD11 Gene migrated from ENSG00000198286 to ENSG00000198286 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COCH Gene migrated from ENSG00000100473 to ENSG00000100473 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CHRNE Gene migrated from ENSG00000108556 to ENSG00000108556 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 OTOA Gene migrated from ENSG00000155719 to ENSG00000155719 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GAA Gene migrated from ENSG00000171298 to ENSG00000171298 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CHRND Gene migrated from ENSG00000135902 to ENSG00000135902 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CA12 Gene migrated from ENSG00000074410 to ENSG00000074410 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LHFPL5 Gene migrated from ENSG00000197753 to ENSG00000197753 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ARPC1B Gene migrated from ENSG00000130429 to ENSG00000130429 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AKR1D1 Gene migrated from ENSG00000122787 to ENSG00000122787 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CD79A Gene migrated from ENSG00000105369 to ENSG00000105369 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BLNK Gene migrated from ENSG00000095585 to ENSG00000095585 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CPT2 Gene migrated from ENSG00000157184 to ENSG00000157184 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GBA1 Gene symbol changed from GBA to GBA1 during gene set migration (ENSG00000177628 -> ENSG00000177628)
Genomic newborn screening: BabyScreen+ v2.0 AK2 Gene migrated from ENSG00000004455 to ENSG00000004455 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FBP1 Gene migrated from ENSG00000165140 to ENSG00000165140 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 C5 Gene migrated from ENSG00000106804 to ENSG00000106804 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NIPAL4 Gene migrated from ENSG00000172548 to ENSG00000172548 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 G6PC3 Gene migrated from ENSG00000141349 to ENSG00000141349 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CLDN14 Gene migrated from ENSG00000159261 to ENSG00000159261 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CDKN1C Gene migrated from ENSG00000129757 to ENSG00000129757 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AICDA Gene migrated from ENSG00000111732 to ENSG00000111732 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BCKDHA Gene migrated from ENSG00000248098 to ENSG00000248098 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NHEJ1 Gene migrated from ENSG00000187736 to ENSG00000187736 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ILDR1 Gene migrated from ENSG00000145103 to ENSG00000145103 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CD3E Gene migrated from ENSG00000198851 to ENSG00000198851 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BSND Gene migrated from ENSG00000162399 to ENSG00000162399 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CHAT Gene migrated from ENSG00000070748 to ENSG00000070748 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WT1 Gene migrated from ENSG00000184937 to ENSG00000184937 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CD3D Gene migrated from ENSG00000167286 to ENSG00000167286 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CABP2 Gene migrated from ENSG00000167791 to ENSG00000167791 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BSCL2 Gene migrated from ENSG00000168000 to ENSG00000168000 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CA5A Gene migrated from ENSG00000174990 to ENSG00000174990 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BTK Gene migrated from ENSG00000010671 to ENSG00000010671 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NEUROG3 Gene migrated from ENSG00000122859 to ENSG00000122859 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BCKDK Gene migrated from ENSG00000103507 to ENSG00000103507 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ABCC6 Gene migrated from ENSG00000091262 to ENSG00000091262 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACAT1 Gene migrated from ENSG00000075239 to ENSG00000075239 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ADGRV1 Gene migrated from ENSG00000164199 to ENSG00000164199 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ARSA Gene migrated from ENSG00000100299 to ENSG00000100299 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GATA3 Gene migrated from ENSG00000107485 to ENSG00000107485 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ASL Gene migrated from ENSG00000126522 to ENSG00000126522 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COLQ Gene migrated from ENSG00000206561 to ENSG00000206561 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GATA2 Gene migrated from ENSG00000179348 to ENSG00000179348 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IL2RB Gene migrated from ENSG00000100385 to ENSG00000100385 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC5A6 Gene migrated from ENSG00000138074 to ENSG00000138074 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COL11A2 Gene migrated from ENSG00000204248 to ENSG00000204248 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RFXAP Gene migrated from ENSG00000133111 to ENSG00000133111 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC5A7 Gene migrated from ENSG00000115665 to ENSG00000115665 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GCK Gene migrated from ENSG00000106633 to ENSG00000106633 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 G6PC1 Gene symbol changed from G6PC to G6PC1 during gene set migration (ENSG00000131482 -> ENSG00000131482)
Genomic newborn screening: BabyScreen+ v2.0 GAMT Gene migrated from ENSG00000130005 to ENSG00000130005 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AGL Gene migrated from ENSG00000162688 to ENSG00000162688 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ENG Gene migrated from ENSG00000106991 to ENSG00000106991 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CDH23 Gene migrated from ENSG00000107736 to ENSG00000107736 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DPAGT1 Gene migrated from ENSG00000172269 to ENSG00000172269 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DMP1 Gene migrated from ENSG00000152592 to ENSG00000152592 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AVP Gene migrated from ENSG00000101200 to ENSG00000101200 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CFP Gene migrated from ENSG00000126759 to ENSG00000126759 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RFX5 Gene migrated from ENSG00000143390 to ENSG00000143390 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CDC14A Gene migrated from ENSG00000079335 to ENSG00000079335 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EDN3 Gene migrated from ENSG00000124205 to ENSG00000124205 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AVPR2 Gene migrated from ENSG00000126895 to ENSG00000126895 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DHCR7 Gene migrated from ENSG00000172893 to ENSG00000172893 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CYP11A1 Gene migrated from ENSG00000140459 to ENSG00000140459 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AQP2 Gene migrated from ENSG00000167580 to ENSG00000167580 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 C9 Gene migrated from ENSG00000113600 to ENSG00000113600 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NAGS Gene migrated from ENSG00000161653 to ENSG00000161653 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 C8B Gene migrated from ENSG00000021852 to ENSG00000021852 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DGAT1 Gene migrated from ENSG00000185000 to ENSG00000185000 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GIPC3 Gene migrated from ENSG00000179855 to ENSG00000179855 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ESRRB Gene migrated from ENSG00000119715 to ENSG00000119715 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 XPA Gene migrated from ENSG00000136936 to ENSG00000136936 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 XPC Gene migrated from ENSG00000154767 to ENSG00000154767 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ZAP70 Gene migrated from ENSG00000115085 to ENSG00000115085 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NCF2 Gene migrated from ENSG00000116701 to ENSG00000116701 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPE65 Gene migrated from ENSG00000116745 to ENSG00000116745 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FGB Gene migrated from ENSG00000171564 to ENSG00000171564 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYSM1 Gene migrated from ENSG00000162601 to ENSG00000162601 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DOK7 Gene migrated from ENSG00000175920 to ENSG00000175920 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 VPS45 Gene migrated from ENSG00000136631 to ENSG00000136631 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYO7A Gene migrated from ENSG00000137474 to ENSG00000137474 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CYP11B2 Gene migrated from ENSG00000179142 to ENSG00000179142 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYO6 Gene migrated from ENSG00000196586 to ENSG00000196586 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HADHA Gene migrated from ENSG00000084754 to ENSG00000084754 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYO15A Gene migrated from ENSG00000091536 to ENSG00000091536 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYO3A Gene migrated from ENSG00000095777 to ENSG00000095777 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 USH2A Gene migrated from ENSG00000042781 to ENSG00000042781 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CUBN Gene migrated from ENSG00000107611 to ENSG00000107611 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AP3B1 Gene migrated from ENSG00000132842 to ENSG00000132842 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AIRE Gene migrated from ENSG00000160224 to ENSG00000160224 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CTNS Gene migrated from ENSG00000040531 to ENSG00000040531 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DUOXA2 Gene migrated from ENSG00000140274 to ENSG00000140274 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 USH1C Gene migrated from ENSG00000006611 to ENSG00000006611 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 USH1G Gene migrated from ENSG00000182040 to ENSG00000182040 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HLCS Gene migrated from ENSG00000159267 to ENSG00000159267 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ATP7A Gene migrated from ENSG00000165240 to ENSG00000165240 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 UNC13D Gene migrated from ENSG00000092929 to ENSG00000092929 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AGXT Gene migrated from ENSG00000172482 to ENSG00000172482 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ADA2 Gene migrated from ENSG00000093072 to ENSG00000093072 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TTPA Gene migrated from ENSG00000137561 to ENSG00000137561 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CYP21A2 Gene migrated from ENSG00000231852 to ENSG00000231852 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CFTR Gene migrated from ENSG00000001626 to ENSG00000001626 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IL7R Gene migrated from ENSG00000168685 to ENSG00000168685 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AMN Gene migrated from ENSG00000166126 to ENSG00000166126 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ITGB3 Gene migrated from ENSG00000259207 to ENSG00000259207 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPL5 Gene migrated from ENSG00000122406 to ENSG00000122406 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PIK3CD Gene migrated from ENSG00000171608 to ENSG00000171608 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CAVIN1 Gene migrated from ENSG00000177469 to ENSG00000177469 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MITF Gene migrated from ENSG00000187098 to ENSG00000187098 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TRMU Gene migrated from ENSG00000100416 to ENSG00000100416 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALPL Gene migrated from ENSG00000162551 to ENSG00000162551 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TRIOBP Gene migrated from ENSG00000100106 to ENSG00000100106 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COL11A1 Gene migrated from ENSG00000060718 to ENSG00000060718 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MVK Gene migrated from ENSG00000110921 to ENSG00000110921 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ITGA2B Gene migrated from ENSG00000005961 to ENSG00000005961 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MMUT Gene symbol changed from MUT to MMUT during gene set migration (ENSG00000146085 -> ENSG00000146085)
Genomic newborn screening: BabyScreen+ v2.0 TP53 Gene migrated from ENSG00000141510 to ENSG00000141510 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MTTP Gene migrated from ENSG00000138823 to ENSG00000138823 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MUSK Gene migrated from ENSG00000030304 to ENSG00000030304 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MTRR Gene migrated from ENSG00000124275 to ENSG00000124275 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TMIE Gene migrated from ENSG00000181585 to ENSG00000181585 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TMC1 Gene migrated from ENSG00000165091 to ENSG00000165091 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IL2RG Gene migrated from ENSG00000147168 to ENSG00000147168 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LDLR Gene migrated from ENSG00000130164 to ENSG00000130164 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MTR Gene migrated from ENSG00000116984 to ENSG00000116984 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MRAP Gene migrated from ENSG00000170262 to ENSG00000170262 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TGFBR2 Gene migrated from ENSG00000163513 to ENSG00000163513 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FGA Gene migrated from ENSG00000171560 to ENSG00000171560 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TGFBR1 Gene migrated from ENSG00000106799 to ENSG00000106799 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TG Gene migrated from ENSG00000042832 to ENSG00000042832 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TMPRSS3 Gene migrated from ENSG00000160183 to ENSG00000160183 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ABCC8 Gene migrated from ENSG00000006071 to ENSG00000006071 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TECTA Gene migrated from ENSG00000109927 to ENSG00000109927 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TCN2 Gene migrated from ENSG00000185339 to ENSG00000185339 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TCIRG1 Gene migrated from ENSG00000110719 to ENSG00000110719 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TBX19 Gene migrated from ENSG00000143178 to ENSG00000143178 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MPL Gene migrated from ENSG00000117400 to ENSG00000117400 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TCF3 Gene migrated from ENSG00000071564 to ENSG00000071564 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MPI Gene migrated from ENSG00000178802 to ENSG00000178802 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TGFB3 Gene migrated from ENSG00000119699 to ENSG00000119699 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PJVK Gene symbol changed from DFNB59 to PJVK during gene set migration (ENSG00000204311 -> ENSG00000204311)
Genomic newborn screening: BabyScreen+ v2.0 STXBP2 Gene migrated from ENSG00000076944 to ENSG00000076944 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COL9A1 Gene migrated from ENSG00000112280 to ENSG00000112280 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 STX11 Gene migrated from ENSG00000135604 to ENSG00000135604 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 STAR Gene migrated from ENSG00000147465 to ENSG00000147465 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MOCS1 Gene migrated from ENSG00000124615 to ENSG00000124615 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SRP54 Gene migrated from ENSG00000100883 to ENSG00000100883 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MMACHC Gene migrated from ENSG00000132763 to ENSG00000132763 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MMADHC Gene migrated from ENSG00000168288 to ENSG00000168288 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SP110 Gene migrated from ENSG00000135899 to ENSG00000135899 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MMAB Gene migrated from ENSG00000139428 to ENSG00000139428 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SMAD3 Gene migrated from ENSG00000166949 to ENSG00000166949 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLX4 Gene migrated from ENSG00000188827 to ENSG00000188827 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COL1A1 Gene migrated from ENSG00000108821 to ENSG00000108821 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MLYCD Gene migrated from ENSG00000103150 to ENSG00000103150 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC7A7 Gene migrated from ENSG00000155465 to ENSG00000155465 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HADH Gene migrated from ENSG00000138796 to ENSG00000138796 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC52A2 Gene migrated from ENSG00000185803 to ENSG00000185803 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MMAA Gene migrated from ENSG00000151611 to ENSG00000151611 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC5A1 Gene migrated from ENSG00000100170 to ENSG00000100170 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNJ11 Gene migrated from ENSG00000187486 to ENSG00000187486 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC4A1 Gene migrated from ENSG00000004939 to ENSG00000004939 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC46A1 Gene migrated from ENSG00000076351 to ENSG00000076351 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 INS Gene migrated from ENSG00000254647 to ENSG00000254647 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ECHS1 Gene migrated from ENSG00000127884 to ENSG00000127884 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC39A8 Gene migrated from ENSG00000138821 to ENSG00000138821 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PHEX Gene migrated from ENSG00000102174 to ENSG00000102174 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IGSF1 Gene migrated from ENSG00000147255 to ENSG00000147255 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC2A1 Gene migrated from ENSG00000117394 to ENSG00000117394 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DHFR Gene migrated from ENSG00000228716 to ENSG00000228716 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC26A4 Gene migrated from ENSG00000091137 to ENSG00000091137 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPS10 Gene migrated from ENSG00000124614 to ENSG00000124614 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC26A3 Gene migrated from ENSG00000091138 to ENSG00000091138 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GNAS Gene migrated from ENSG00000087460 to ENSG00000087460 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC25A38 Gene migrated from ENSG00000144659 to ENSG00000144659 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MEFV Gene migrated from ENSG00000103313 to ENSG00000103313 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC18A3 Gene migrated from ENSG00000187714 to ENSG00000187714 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC18A2 Gene migrated from ENSG00000165646 to ENSG00000165646 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DNAJC12 Gene migrated from ENSG00000108176 to ENSG00000108176 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GLRA1 Gene migrated from ENSG00000145888 to ENSG00000145888 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MC2R Gene migrated from ENSG00000185231 to ENSG00000185231 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GJB2 Gene migrated from ENSG00000165474 to ENSG00000165474 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SI Gene migrated from ENSG00000090402 to ENSG00000090402 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MARVELD2 Gene migrated from ENSG00000152939 to ENSG00000152939 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 OTOG Gene migrated from ENSG00000188162 to ENSG00000188162 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GALM Gene migrated from ENSG00000143891 to ENSG00000143891 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 F9 Gene migrated from ENSG00000101981 to ENSG00000101981 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MAFB Gene migrated from ENSG00000204103 to ENSG00000204103 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HGF Gene migrated from ENSG00000019991 to ENSG00000019991 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LYST Gene migrated from ENSG00000143669 to ENSG00000143669 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FANCI Gene migrated from ENSG00000140525 to ENSG00000140525 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SCNN1B Gene migrated from ENSG00000168447 to ENSG00000168447 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LRTOMT Gene migrated from ENSG00000184154 to ENSG00000284922 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SCNN1A Gene migrated from ENSG00000111319 to ENSG00000111319 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IGLL1 Gene migrated from ENSG00000128322 to ENSG00000128322 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SBDS Gene migrated from ENSG00000126524 to ENSG00000126524 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 JAK3 Gene migrated from ENSG00000105639 to ENSG00000105639 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MAN2B1 Gene migrated from ENSG00000104774 to ENSG00000104774 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RYR2 Gene migrated from ENSG00000198626 to ENSG00000198626 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RYR1 Gene migrated from ENSG00000196218 to ENSG00000196218 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GALT Gene migrated from ENSG00000213930 to ENSG00000213930 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IGHM Gene migrated from ENSG00000211899 to ENSG00000211899 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LRP5 Gene migrated from ENSG00000162337 to ENSG00000162337 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC37A4 Gene migrated from ENSG00000137700 to ENSG00000137700 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MSH6 Gene migrated from ENSG00000116062 to ENSG00000116062 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MSH2 Gene migrated from ENSG00000095002 to ENSG00000095002 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPS24 Gene migrated from ENSG00000138326 to ENSG00000138326 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPS26 Gene migrated from ENSG00000197728 to ENSG00000197728 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC39A7 Gene migrated from ENSG00000112473 to ENSG00000112473 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPS17 Gene migrated from ENSG00000182774 to ENSG00000182774 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPS19 Gene migrated from ENSG00000105372 to ENSG00000105372 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LOXHD1 Gene migrated from ENSG00000167210 to ENSG00000167210 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MLH1 Gene migrated from ENSG00000076242 to ENSG00000076242 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IDUA Gene migrated from ENSG00000127415 to ENSG00000127415 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC30A10 Gene migrated from ENSG00000196660 to ENSG00000196660 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MCEE Gene migrated from ENSG00000124370 to ENSG00000124370 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LMBRD1 Gene migrated from ENSG00000168216 to ENSG00000168216 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CBLIF Gene symbol changed from GIF to CBLIF during gene set migration (ENSG00000134812 -> ENSG00000134812)
Genomic newborn screening: BabyScreen+ v2.0 LIG4 Gene migrated from ENSG00000174405 to ENSG00000174405 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPL15 Gene migrated from ENSG00000174748 to ENSG00000174748 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPL11 Gene migrated from ENSG00000142676 to ENSG00000142676 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RFXANK Gene migrated from ENSG00000064490 to ENSG00000064490 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RET Gene migrated from ENSG00000165731 to ENSG00000165731 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IDS Gene migrated from ENSG00000010404 to ENSG00000010404 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RDX Gene migrated from ENSG00000137710 to ENSG00000137710 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LHX4 Gene migrated from ENSG00000121454 to ENSG00000121454 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RB1 Gene migrated from ENSG00000139687 to ENSG00000139687 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DOCK8 Gene migrated from ENSG00000107099 to ENSG00000107099 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LEPR Gene migrated from ENSG00000116678 to ENSG00000116678 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RAPSN Gene migrated from ENSG00000165917 to ENSG00000165917 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RAG2 Gene migrated from ENSG00000175097 to ENSG00000175097 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 F7 Gene migrated from ENSG00000057593 to ENSG00000057593 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FGF23 Gene migrated from ENSG00000118972 to ENSG00000118972 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ORAI1 Gene migrated from ENSG00000276045 to ENSG00000276045 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GLA Gene migrated from ENSG00000102393 to ENSG00000102393 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GGCX Gene migrated from ENSG00000115486 to ENSG00000115486 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RAB27A Gene migrated from ENSG00000069974 to ENSG00000069974 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 QDPR Gene migrated from ENSG00000151552 to ENSG00000151552 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PTS Gene migrated from ENSG00000150787 to ENSG00000150787 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HK1 Gene migrated from ENSG00000156515 to ENSG00000156515 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PYGL Gene migrated from ENSG00000100504 to ENSG00000100504 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EDNRB Gene migrated from ENSG00000136160 to ENSG00000136160 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PTPRC Gene migrated from ENSG00000081237 to ENSG00000081237 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GLUD1 Gene migrated from ENSG00000148672 to ENSG00000148672 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PTF1A Gene migrated from ENSG00000168267 to ENSG00000168267 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IL10RA Gene migrated from ENSG00000110324 to ENSG00000110324 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PROP1 Gene migrated from ENSG00000175325 to ENSG00000175325 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PRKAR1A Gene migrated from ENSG00000108946 to ENSG00000108946 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PRKDC Gene migrated from ENSG00000253729 to ENSG00000253729 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNJ1 Gene migrated from ENSG00000151704 to ENSG00000151704 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PRF1 Gene migrated from ENSG00000180644 to ENSG00000180644 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DNMT3B Gene migrated from ENSG00000088305 to ENSG00000088305 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 POU3F4 Gene migrated from ENSG00000196767 to ENSG00000196767 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LAMA2 Gene migrated from ENSG00000196569 to ENSG00000196569 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 POU1F1 Gene migrated from ENSG00000064835 to ENSG00000064835 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COL9A2 Gene migrated from ENSG00000049089 to ENSG00000049089 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 POR Gene migrated from ENSG00000127948 to ENSG00000127948 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FGG Gene migrated from ENSG00000171557 to ENSG00000171557 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PNPO Gene migrated from ENSG00000108439 to ENSG00000108439 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PTCH1 Gene migrated from ENSG00000185920 to ENSG00000185920 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PLPBP Gene migrated from ENSG00000147471 to ENSG00000147471 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GCDH Gene migrated from ENSG00000105607 to ENSG00000105607 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 S1PR2 Gene migrated from ENSG00000267534 to ENSG00000267534 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PKLR Gene migrated from ENSG00000143627 to ENSG00000143627 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IRAK4 Gene migrated from ENSG00000198001 to ENSG00000198001 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PIK3R1 Gene migrated from ENSG00000145675 to ENSG00000145675 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RAG1 Gene migrated from ENSG00000166349 to ENSG00000166349 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COQ8A Gene migrated from ENSG00000163050 to ENSG00000163050 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ELANE Gene migrated from ENSG00000197561 to ENSG00000197561 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SCNN1G Gene migrated from ENSG00000166828 to ENSG00000166828 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPS7 Gene migrated from ENSG00000171863 to ENSG00000171863 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TRHR Gene migrated from ENSG00000174417 to ENSG00000174417 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RPL35A Gene migrated from ENSG00000182899 to ENSG00000182899 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PSTPIP1 Gene migrated from ENSG00000140368 to ENSG00000140368 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LPL Gene migrated from ENSG00000175445 to ENSG00000175445 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LAT Gene migrated from ENSG00000213658 to ENSG00000213658 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KLHL3 Gene migrated from ENSG00000146021 to ENSG00000146021 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IRF8 Gene migrated from ENSG00000140968 to ENSG00000140968 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IL10RB Gene migrated from ENSG00000243646 to ENSG00000243646 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IGF1 Gene migrated from ENSG00000017427 to ENSG00000017427 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IL10 Gene migrated from ENSG00000136634 to ENSG00000136634 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CFI Gene migrated from ENSG00000205403 to ENSG00000205403 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CHRNB1 Gene migrated from ENSG00000170175 to ENSG00000170175 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CFH Gene migrated from ENSG00000000971 to ENSG00000000971 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CFD Gene migrated from ENSG00000197766 to ENSG00000197766 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CEBPE Gene migrated from ENSG00000092067 to ENSG00000092067 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 C3 Gene migrated from ENSG00000125730 to ENSG00000125730 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SMAD2 Gene migrated from ENSG00000175387 to ENSG00000175387 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PHKG2 Gene migrated from ENSG00000156873 to ENSG00000156873 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PHKB Gene migrated from ENSG00000102893 to ENSG00000102893 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PHKA2 Gene migrated from ENSG00000044446 to ENSG00000044446 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PHGDH Gene migrated from ENSG00000092621 to ENSG00000092621 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PLG Gene migrated from ENSG00000122194 to ENSG00000122194 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DLAT Gene migrated from ENSG00000150768 to ENSG00000150768 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLITRK6 Gene migrated from ENSG00000184564 to ENSG00000184564 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CYBB Gene migrated from ENSG00000165168 to ENSG00000165168 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PGM3 Gene migrated from ENSG00000013375 to ENSG00000013375 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TGFB2 Gene migrated from ENSG00000092969 to ENSG00000092969 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COL2A1 Gene migrated from ENSG00000139219 to ENSG00000139219 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 OAT Gene migrated from ENSG00000065154 to ENSG00000065154 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PTPRQ Gene migrated from ENSG00000139304 to ENSG00000139304 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYH7 Gene migrated from ENSG00000092054 to ENSG00000092054 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNJ2 Gene migrated from ENSG00000123700 to ENSG00000123700 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TUBB1 Gene migrated from ENSG00000101162 to ENSG00000101162 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC26A7 Gene migrated from ENSG00000147606 to ENSG00000147606 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 OTX2 Gene migrated from ENSG00000165588 to ENSG00000165588 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HESX1 Gene migrated from ENSG00000163666 to ENSG00000163666 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CDCA8 Gene migrated from ENSG00000134690 to ENSG00000134690 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FOXN1 Gene migrated from ENSG00000109101 to ENSG00000109101 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TMEM38B Gene migrated from ENSG00000095209 to ENSG00000095209 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 P3H1 Gene migrated from ENSG00000117385 to ENSG00000117385 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MESD Gene migrated from ENSG00000117899 to ENSG00000117899 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KDELR2 Gene migrated from ENSG00000136240 to ENSG00000136240 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FKBP10 Gene migrated from ENSG00000141756 to ENSG00000141756 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BMP1 Gene migrated from ENSG00000168487 to ENSG00000168487 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 F13A1 Gene migrated from ENSG00000124491 to ENSG00000124491 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DICER1 Gene migrated from ENSG00000100697 to ENSG00000100697 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TBL1X Gene migrated from ENSG00000101849 to ENSG00000101849 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TF Gene migrated from ENSG00000091513 to ENSG00000091513 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SAMD9 Gene migrated from ENSG00000205413 to ENSG00000205413 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PCSK9 Gene migrated from ENSG00000169174 to ENSG00000169174 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RNPC3 Gene migrated from ENSG00000185946 to ENSG00000185946 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RASGRP1 Gene migrated from ENSG00000172575 to ENSG00000172575 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LIPA Gene migrated from ENSG00000107798 to ENSG00000107798 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RAC2 Gene migrated from ENSG00000128340 to ENSG00000128340 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PLS3 Gene migrated from ENSG00000102024 to ENSG00000102024 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 OTULIN Gene migrated from ENSG00000154124 to ENSG00000154124 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MTHFD1 Gene migrated from ENSG00000100714 to ENSG00000100714 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MNX1 Gene migrated from ENSG00000130675 to ENSG00000130675 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FOXA2 Gene migrated from ENSG00000125798 to ENSG00000125798 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.148
Genomic newborn screening: BabyScreen+ v1.148 OCA2 Zornitza Stark Mode of inheritance for gene: OCA2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.147 OCA2 Zornitza Stark edited their review of gene: OCA2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.147 CTU2 Sinead OSullivan gene: CTU2 was added
gene: CTU2 was added to Genomic newborn screening: BabyScreen+. Sources: Literature
Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTU2 were set to PMID: 31301155; 27480277; 26633546
Phenotypes for gene: CTU2 were set to global developmental delay; microcephaly; growth restriction; dysmorphism; renal agenesis; congenital heart defects, epilepsy, microphthalmia; coloboma
Review for gene: CTU2 was set to GREEN
Added comment: PMID: 26633546
- 3 consanguineous families all with the same splice variant (NM_001012762.1:c.873G>A). Assumed to be founder variant
- all had microcephaly but measurements were not provided

PMID: 27480277
- 2 additional patients from an extended consanguineous family with the same variant as above
- Patient 1: head circumference of -3.5SD at birth, not growing
- Patient 2: head circumference of -4.3 SD

PMID: 31301155
- 5 new patients with microcephaly (no measurements provided)
- 3x PTVs and 1x missense

PMID: 38348206
- 1 new patient with microcephaly, dysmorphism, ambiguous genitalia and atrial septal defect
- From the consanguineous family stated above with the splice site founder variant (NM_001012762.1:c.873G>A)
Sources: Literature
Genomic newborn screening: BabyScreen+ v1.147 SNTA1 Zornitza Stark Marked gene: SNTA1 as ready
Genomic newborn screening: BabyScreen+ v1.147 SNTA1 Zornitza Stark Gene: snta1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.147 SNTA1 Zornitza Stark Phenotypes for gene: SNTA1 were changed from Long QT syndrome to Long QT syndrome 12 MIM#612955
Genomic newborn screening: BabyScreen+ v1.146 SNTA1 Zornitza Stark Classified gene: SNTA1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.146 SNTA1 Zornitza Stark Gene: snta1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.145 SNTA1 Zornitza Stark Tag disputed tag was added to gene: SNTA1.
Genomic newborn screening: BabyScreen+ v1.145 SNTA1 Zornitza Stark reviewed gene: SNTA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 12 MIM#612955; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v1.145 SDHAF2 Zornitza Stark Marked gene: SDHAF2 as ready
Genomic newborn screening: BabyScreen+ v1.145 SDHAF2 Zornitza Stark Gene: sdhaf2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.145 SDHAF2 Zornitza Stark Phenotypes for gene: SDHAF2 were changed from Hereditary Paraganglioma-Pheochromocytoma Syndromes to Paragangliomas 2, MIM# 601650
Genomic newborn screening: BabyScreen+ v1.144 SDHAF2 Zornitza Stark reviewed gene: SDHAF2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 2, MIM# 601650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.144 RBM20 Zornitza Stark Marked gene: RBM20 as ready
Genomic newborn screening: BabyScreen+ v1.144 RBM20 Zornitza Stark Gene: rbm20 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.144 RBM20 Zornitza Stark Phenotypes for gene: RBM20 were changed from Cardiomyopathy, dilated, 1DD to Cardiomyopathy, dilated, 1DD, MIM# 613172 AD
Genomic newborn screening: BabyScreen+ v1.143 RBM20 Zornitza Stark changed review comment from: DEFINITIVE association with DCM. Not assessed for actionability by ClinGen yet.; to: DEFINITIVE association with DCM. Not assessed for actionability by ClinGen yet. Not suitable for gNBS.
Genomic newborn screening: BabyScreen+ v1.143 RBM20 Zornitza Stark reviewed gene: RBM20: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1DD, MIM# 613172 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.143 MYLK Zornitza Stark Marked gene: MYLK as ready
Genomic newborn screening: BabyScreen+ v1.143 MYLK Zornitza Stark Gene: mylk has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.143 MYLK Zornitza Stark Phenotypes for gene: MYLK were changed from Aortic aneurysm, familial thoracic 7 to Aortic aneurysm, familial thoracic 7, MIM#613780
Genomic newborn screening: BabyScreen+ v1.142 MYLK Zornitza Stark changed review comment from: STRONG by ClinGen in terms of gene-disease relationship but not assessed for actionability yet.; to: STRONG by ClinGen in terms of gene-disease relationship but not assessed for actionability yet. Not suitable for gNBS.
Genomic newborn screening: BabyScreen+ v1.142 MYLK Zornitza Stark reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 7, MIM#613780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.142 MYL3 Zornitza Stark Marked gene: MYL3 as ready
Genomic newborn screening: BabyScreen+ v1.142 MYL3 Zornitza Stark Gene: myl3 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.142 MYL3 Zornitza Stark Phenotypes for gene: MYL3 were changed from Cardiomyopathy, familial hypertrophic, 8 to Cardiomyopathy, hypertrophic, 8, MIM# 608751
Genomic newborn screening: BabyScreen+ v1.141 MYL3 Zornitza Stark changed review comment from: Not assessed by ClinGen Paed Actionability Group yet.; to: DEFINITIVE association with HCM. Not assessed by ClinGen Paed Actionability Group yet. Not suitable for gNBS.
Genomic newborn screening: BabyScreen+ v1.141 MYL3 Zornitza Stark edited their review of gene: MYL3: Changed phenotypes: Cardiomyopathy, hypertrophic, 8, MIM# 608751; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.141 MYL3 Zornitza Stark edited their review of gene: MYL3: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v1.141 MYL3 Zornitza Stark commented on gene: MYL3
Genomic newborn screening: BabyScreen+ v1.140 NOG Zornitza Stark Phenotypes for gene: NOG were changed from Brachydactyly, type B2 - MIM#611377; Multiple synostoses syndrome 1 (MIM#186500); Stapes ankylosis with broad thumbs and toes (MIM#184460); Symphalangism, proximal, 1A (MIM#185800); Tarsal-carpal coalition syndrome (MIM#186570) to NOG-related symphalangism spectrum disorder MONDO:0100521
Genomic newborn screening: BabyScreen+ v1.139 NOG Zornitza Stark edited their review of gene: NOG: Changed phenotypes: NOG-related symphalangism spectrum disorder MONDO:0100521
Genomic newborn screening: BabyScreen+ v1.139 RAG2 Zornitza Stark Phenotypes for gene: RAG2 were changed from Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457; Combined cellular and humoral immune defects with granulomas MIM# 233650 to Recombinase activating gene 2 deficiency MONDO:0000573
Genomic newborn screening: BabyScreen+ v1.138 RAG2 Zornitza Stark edited their review of gene: RAG2: Changed phenotypes: Recombinase activating gene 2 deficiency MONDO:0000573
Genomic newborn screening: BabyScreen+ v1.138 RAG1 Zornitza Stark Phenotypes for gene: RAG1 were changed from 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 to Recombinase activating gene 1 deficiency MONDO:0000572
Genomic newborn screening: BabyScreen+ v1.137 RAG1 Zornitza Stark edited their review of gene: RAG1: Changed phenotypes: Recombinase activating gene 1 deficiency MONDO:0000572
Genomic newborn screening: BabyScreen+ v1.137 TRIM28 Zornitza Stark Phenotypes for gene: TRIM28 were changed from Wilms tumour, MONDO:0006058, TRIM28-related to Wilms tumor 7, MIM# 621332
Genomic newborn screening: BabyScreen+ v1.136 TRIM28 Zornitza Stark edited their review of gene: TRIM28: Changed phenotypes: Wilms tumor 7, MIM# 621332
Genomic newborn screening: BabyScreen+ v1.136 SNTA1 Lilian Rudd reviewed gene: SNTA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 12 MIM#612955; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.136 TNFSF11 Lilian Rudd commented on gene: TNFSF11: This type of osteopetrosis is particularly difficult to treat PMID: 36031188
Genomic newborn screening: BabyScreen+ v1.136 TPM1 Lilian Rudd reviewed gene: TPM1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33642254; Phenotypes: Cardiomyopathy, hypertrophic, 3 MIM#115196; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.136 VCL Lilian Rudd reviewed gene: VCL: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32516855; Phenotypes: Cardiomyopathy, dilated, 1W MIM#611407; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.136 GFAP Lilian Rudd reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alexander disease, MIM#203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.136 MYL2 Zornitza Stark Marked gene: MYL2 as ready
Genomic newborn screening: BabyScreen+ v1.136 MYL2 Zornitza Stark Gene: myl2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.136 MYL2 Zornitza Stark Phenotypes for gene: MYL2 were changed from Cardiomyopathy, familial hypertrophic, 10 to Cardiomyopathy, hypertrophic, 10, MIM# 608758
Genomic newborn screening: BabyScreen+ v1.135 MYL2 Zornitza Stark reviewed gene: MYL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 10, MIM# 608758; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.135 LMNA Zornitza Stark Marked gene: LMNA as ready
Genomic newborn screening: BabyScreen+ v1.135 LMNA Zornitza Stark Gene: lmna has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.135 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from Charcot-Marie-Tooth disease; Emery-Dreifuss muscular dystrophy 2; Dilated cardiomyopathy to Cardiomyopathy, dilated, 1A, MIM# 115200
Genomic newborn screening: BabyScreen+ v1.134 LMNA Zornitza Stark Classified gene: LMNA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.134 LMNA Zornitza Stark Gene: lmna has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.133 LMNA Zornitza Stark reviewed gene: LMNA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1A, MIM# 115200; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v1.133 KRIT1 Zornitza Stark Marked gene: KRIT1 as ready
Genomic newborn screening: BabyScreen+ v1.133 KRIT1 Zornitza Stark Gene: krit1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.133 KRIT1 Zornitza Stark Publications for gene: KRIT1 were set to PMID: 30061145, 20301470, 27561926
Genomic newborn screening: BabyScreen+ v1.132 KRIT1 Zornitza Stark Classified gene: KRIT1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.132 KRIT1 Zornitza Stark Gene: krit1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.131 KRIT1 Zornitza Stark reviewed gene: KRIT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral cavernous malformations-1 MIM#116860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.131 KCNE1 Zornitza Stark Marked gene: KCNE1 as ready
Genomic newborn screening: BabyScreen+ v1.131 KCNE1 Zornitza Stark Gene: kcne1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.131 KCNE1 Zornitza Stark Phenotypes for gene: KCNE1 were changed from Long QT syndrome-5; Jervell and Lange-Nielsen syndrome to Long QT syndrome 5, MIM# 613695
Genomic newborn screening: BabyScreen+ v1.130 KCNE1 Zornitza Stark Classified gene: KCNE1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.130 KCNE1 Zornitza Stark Gene: kcne1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.129 KCNE1 Zornitza Stark reviewed gene: KCNE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 5, MIM# 613695; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.129 GPD1L Zornitza Stark Marked gene: GPD1L as ready
Genomic newborn screening: BabyScreen+ v1.129 GPD1L Zornitza Stark Gene: gpd1l has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.129 GPD1L Zornitza Stark Phenotypes for gene: GPD1L were changed from Brugada syndrome to Brugada syndrome 2, MIM# 611777
Genomic newborn screening: BabyScreen+ v1.128 GPD1L Zornitza Stark Classified gene: GPD1L as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.128 GPD1L Zornitza Stark Gene: gpd1l has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.127 GPD1L Zornitza Stark reviewed gene: GPD1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brugada syndrome 2, MIM# 611777; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.127 GJA5 Zornitza Stark Marked gene: GJA5 as ready
Genomic newborn screening: BabyScreen+ v1.127 GJA5 Zornitza Stark Gene: gja5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.127 GJA5 Zornitza Stark Phenotypes for gene: GJA5 were changed from Atrial fibrillation to Atrial fibrillation, familial, 11, MIM# 614049
Genomic newborn screening: BabyScreen+ v1.126 GJA5 Zornitza Stark Classified gene: GJA5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.126 GJA5 Zornitza Stark Gene: gja5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.125 GJA5 Zornitza Stark reviewed gene: GJA5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial fibrillation, familial, 11, OMIM# 614049; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.125 DES Zornitza Stark Marked gene: DES as ready
Genomic newborn screening: BabyScreen+ v1.125 DES Zornitza Stark Gene: des has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.125 DES Zornitza Stark Phenotypes for gene: DES were changed from Myopathy, myofibrillar; Cardiomyopathy, dilated to Cardiomyopathy, dilated, 1I, MIM# 604765
Genomic newborn screening: BabyScreen+ v1.124 DES Zornitza Stark Classified gene: DES as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.124 DES Zornitza Stark Gene: des has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.123 DES Zornitza Stark reviewed gene: DES: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1I, MIM# 604765; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.123 CRYAB Zornitza Stark Marked gene: CRYAB as ready
Genomic newborn screening: BabyScreen+ v1.123 CRYAB Zornitza Stark Gene: cryab has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.123 CRYAB Zornitza Stark Phenotypes for gene: CRYAB were changed from Myofibrillar myopathy; Cardiomyopathy, dilated to Cardiomyopathy, dilated, 1II MIM#615184
Genomic newborn screening: BabyScreen+ v1.122 CRYAB Zornitza Stark Classified gene: CRYAB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.122 CRYAB Zornitza Stark Gene: cryab has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.121 CRYAB Zornitza Stark reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1II MIM#615184; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.121 CACNA1C Zornitza Stark Marked gene: CACNA1C as ready
Genomic newborn screening: BabyScreen+ v1.121 CACNA1C Zornitza Stark Gene: cacna1c has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.121 CACNA1C Zornitza Stark reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 8, MIM# 618447, Timothy syndrome, MIM# 601005; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.121 TRPM4 Zornitza Stark Phenotypes for gene: TRPM4 were changed from Progressive familial heart block, type IB 604559 to Progressive familial heart block, type IB, MIM# 604559
Genomic newborn screening: BabyScreen+ v1.120 TRPM4 Zornitza Stark Classified gene: TRPM4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.120 TRPM4 Zornitza Stark Gene: trpm4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.119 TRPM4 Zornitza Stark reviewed gene: TRPM4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Progressive familial heart block, type IB, MIM# 604559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.119 KCNE2 Zornitza Stark Marked gene: KCNE2 as ready
Genomic newborn screening: BabyScreen+ v1.119 KCNE2 Zornitza Stark Gene: kcne2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.119 KCNE2 Zornitza Stark Phenotypes for gene: KCNE2 were changed from Long QT syndrome-6 to Long QT syndrome 6, MIM# 613693
Genomic newborn screening: BabyScreen+ v1.118 KCNE2 Zornitza Stark Classified gene: KCNE2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.118 KCNE2 Zornitza Stark Gene: kcne2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.117 KCNE2 Zornitza Stark edited their review of gene: KCNE2: Changed phenotypes: Long QT syndrome 6, MIM# 613693
Genomic newborn screening: BabyScreen+ v1.117 KCNE2 Zornitza Stark reviewed gene: KCNE2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.117 Zornitza Stark Panel name changed from BabyScreen+ newborn screening to Genomic newborn screening: BabyScreen+
Genomic newborn screening: BabyScreen+ v1.116 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
Genomic newborn screening: BabyScreen+ v1.116 TERC Zornitza Stark Tag non-coding gene tag was added to gene: TERC.
Genomic newborn screening: BabyScreen+ v1.116 H19 Zornitza Stark Tag non-coding gene tag was added to gene: H19.
Genomic newborn screening: BabyScreen+ v1.116 CLN8 Melanie Marty reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: None; Publications: 16570191, 15024724; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.116 PSTPIP1 Zornitza Stark Phenotypes for gene: PSTPIP1 were changed from Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416 to Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979; Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416
Genomic newborn screening: BabyScreen+ v1.115 PSTPIP1 Zornitza Stark edited their review of gene: PSTPIP1: Changed phenotypes: Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416, Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979
Genomic newborn screening: BabyScreen+ v1.115 THAP11 Zornitza Stark Phenotypes for gene: THAP11 were changed from Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related to Methylmalonic aciduria, cblC type-like, MIM# 620940; Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related
Genomic newborn screening: BabyScreen+ v1.114 THAP11 Zornitza Stark reviewed gene: THAP11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, cblC type-like, MIM# 620940, Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.114 AHCY Carolyn Bursle reviewed gene: AHCY: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v1.114 GCH1 Lilian Rudd Mode of inheritance for gene: GCH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.113 GCH1 Lilian Rudd reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301681; Phenotypes: Dystonia, DOPA-responsive MIM#128230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.113 LIG4 Zornitza Stark Publications for gene: LIG4 were set to 16088910; 9823897; 10911993; 15333585; 9809069, 12023982; 11040211; 15175260; 19451691; 17554302; 11779494
Genomic newborn screening: BabyScreen+ v1.112 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
Genomic newborn screening: BabyScreen+ v1.111 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302, 11779494; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.111 ELANE Zornitza Stark Mode of pathogenicity for gene: ELANE was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Genomic newborn screening: BabyScreen+ v1.110 ELANE Zornitza Stark commented on gene: ELANE: ClinGen: there is little evidence for haploinsufficiency. gnomAD pLI score is zero and there are NMD predicted variants in the population.

Entire gene deletion is not described in the context of neutropenia, including deletion of 19p terminal (encompassing ELANE) (PMID: 33968054).

Maturation arrest, the failure of the marrow myeloid progenitors to form mature neutrophils, is a consistent feature of ELANE associated congenital neutropenia. Knock-out of the mutant allele in hematopoietic stem cells derived from SCN patients restores neutrophils maturation (PMID: 3124897).
Genomic newborn screening: BabyScreen+ v1.110 ELANE Zornitza Stark edited their review of gene: ELANE: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Genomic newborn screening: BabyScreen+ v1.110 TSHR Zornitza Stark Phenotypes for gene: TSHR were changed from Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200; HYPERTHYROIDISM, FAMILIAL GESTATIONAL HYPERTHYROIDISM to Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200
Genomic newborn screening: BabyScreen+ v1.109 TSHR Zornitza Stark Mode of inheritance for gene: TSHR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.108 TSHR Zornitza Stark edited their review of gene: TSHR: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.108 CBS Zornitza Stark Classified gene: CBS as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.108 CBS Zornitza Stark Gene: cbs has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.107 CBS Zornitza Stark edited their review of gene: CBS: Added comment: Upgraded to Green following reassessment of mapping issues on WGS vs ES.; Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v1.107 WNK1 Zornitza Stark Marked gene: WNK1 as ready
Genomic newborn screening: BabyScreen+ v1.107 WNK1 Zornitza Stark Gene: wnk1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.107 WNK1 Zornitza Stark Phenotypes for gene: WNK1 were changed from Neuropathy, hereditary sensory and autonomic, type I to Pseudohypoaldosteronism 2C (PHA2C), MIM#614492
Genomic newborn screening: BabyScreen+ v1.106 WNK1 Zornitza Stark Mode of inheritance for gene: WNK1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.105 WNK1 Zornitza Stark Classified gene: WNK1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.105 WNK1 Zornitza Stark Gene: wnk1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.104 WNK1 Zornitza Stark Tag treatable tag was added to gene: WNK1.
Tag endocrine tag was added to gene: WNK1.
Genomic newborn screening: BabyScreen+ v1.104 WNK1 Zornitza Stark reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism 2C (PHA2C), MIM#614492; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.104 TRIM28 Zornitza Stark Marked gene: TRIM28 as ready
Genomic newborn screening: BabyScreen+ v1.104 TRIM28 Zornitza Stark Gene: trim28 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.104 TRIM28 Zornitza Stark Classified gene: TRIM28 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.104 TRIM28 Zornitza Stark Gene: trim28 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.103 TRIM28 Zornitza Stark Tag cancer tag was added to gene: TRIM28.
Tag treatable tag was added to gene: TRIM28.
Genomic newborn screening: BabyScreen+ v1.103 TRIM28 Zornitza Stark gene: TRIM28 was added
gene: TRIM28 was added to BabyScreen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM28 were set to 30694527
Phenotypes for gene: TRIM28 were set to Wilms tumour, MONDO:0006058, TRIM28-related
Review for gene: TRIM28 was set to GREEN
Added comment: Established gene-disease association, more than 10 individuals reported.

Onset in childhood.

Included for completeness as managed similarly to WT1.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.102 TRHR Zornitza Stark Marked gene: TRHR as ready
Genomic newborn screening: BabyScreen+ v1.102 TRHR Zornitza Stark Gene: trhr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.102 TRHR Zornitza Stark Phenotypes for gene: TRHR were changed from Thyrotropin-releasing hormone resistance, generalized to Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573
Genomic newborn screening: BabyScreen+ v1.101 TRHR Zornitza Stark Publications for gene: TRHR were set to
Genomic newborn screening: BabyScreen+ v1.100 TRHR Zornitza Stark Classified gene: TRHR as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.100 TRHR Zornitza Stark Gene: trhr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.99 TRHR Zornitza Stark Tag treatable tag was added to gene: TRHR.
Tag endocrine tag was added to gene: TRHR.
Genomic newborn screening: BabyScreen+ v1.99 TRHR Zornitza Stark reviewed gene: TRHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 9141550, 19213692, 26735259, 28419241, 32319661; Phenotypes: Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.99 SGPL1 Zornitza Stark Classified gene: SGPL1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.99 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.98 SGPL1 Zornitza Stark Tag renal was removed from gene: SGPL1.
Tag treatable tag was added to gene: SGPL1.
Tag endocrine tag was added to gene: SGPL1.
Genomic newborn screening: BabyScreen+ v1.98 SGPL1 Zornitza Stark reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 14 MIM#617575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.98 SCNN1G Zornitza Stark Marked gene: SCNN1G as ready
Genomic newborn screening: BabyScreen+ v1.98 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.98 SCNN1G Zornitza Stark Phenotypes for gene: SCNN1G were changed from Pseudohypoaldosteronism, type I, MIM# 264350; Pseudohypoaldosteronism to Pseudohypoaldosteronism, type I, MIM# 264350
Genomic newborn screening: BabyScreen+ v1.97 SCNN1G Zornitza Stark Classified gene: SCNN1G as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.97 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.96 SCNN1G Zornitza Stark Tag treatable tag was added to gene: SCNN1G.
Tag endocrine tag was added to gene: SCNN1G.
Genomic newborn screening: BabyScreen+ v1.96 SCNN1G Zornitza Stark reviewed gene: SCNN1G: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, MIM# 264350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.96 RPS7 Zornitza Stark Marked gene: RPS7 as ready
Genomic newborn screening: BabyScreen+ v1.96 RPS7 Zornitza Stark Gene: rps7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.96 RPS7 Zornitza Stark Phenotypes for gene: RPS7 were changed from Diamond-Blackfan anaemia 8, MIM# 612563; Diamond-Blackfan anemia to Diamond-Blackfan anaemia 8, MIM# 612563
Genomic newborn screening: BabyScreen+ v1.95 RPS7 Zornitza Stark Publications for gene: RPS7 were set to
Genomic newborn screening: BabyScreen+ v1.94 RPS7 Zornitza Stark Classified gene: RPS7 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.94 RPS7 Zornitza Stark Gene: rps7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.93 RPS7 Zornitza Stark Tag treatable tag was added to gene: RPS7.
Tag haematological tag was added to gene: RPS7.
Genomic newborn screening: BabyScreen+ v1.93 RPS7 Zornitza Stark reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985, 23718193, 27882484, 32772263; Phenotypes: Diamond-Blackfan anemia 8, MIM# 612563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.93 RPL35A Zornitza Stark Marked gene: RPL35A as ready
Genomic newborn screening: BabyScreen+ v1.93 RPL35A Zornitza Stark Gene: rpl35a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.93 RPL35A Zornitza Stark Phenotypes for gene: RPL35A were changed from Diamond-Blackfan anaemia 5, MIM# 612528; Diamond-Blackfan anemia to Diamond-Blackfan anaemia 5, MIM# 612528
Genomic newborn screening: BabyScreen+ v1.92 RPL35A Zornitza Stark Publications for gene: RPL35A were set to
Genomic newborn screening: BabyScreen+ v1.91 RPL35A Zornitza Stark Classified gene: RPL35A as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.91 RPL35A Zornitza Stark Gene: rpl35a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.90 RPL35A Zornitza Stark Tag treatable tag was added to gene: RPL35A.
Tag haematological tag was added to gene: RPL35A.
Genomic newborn screening: BabyScreen+ v1.90 RPL35A Zornitza Stark reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18535205, 32241839; Phenotypes: Diamond-Blackfan anemia 5, MIM# 612528; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.90 REST Zornitza Stark Marked gene: REST as ready
Genomic newborn screening: BabyScreen+ v1.90 REST Zornitza Stark Gene: rest has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.90 REST Zornitza Stark Classified gene: REST as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.90 REST Zornitza Stark Gene: rest has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.89 REST Zornitza Stark gene: REST was added
gene: REST was added to BabyScreen+ newborn screening. Sources: Expert list
cancer, treatable tags were added to gene: REST.
Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: REST were set to 26551668; 34308104
Phenotypes for gene: REST were set to {Wilms tumor 6, susceptibility to}, MIM# 616806
Review for gene: REST was set to GREEN
Added comment: Established association, more than 10 families reported.

Childhood onset.

Included for completeness as managed similarly to WT1.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.88 PSTPIP1 Zornitza Stark Marked gene: PSTPIP1 as ready
Genomic newborn screening: BabyScreen+ v1.88 PSTPIP1 Zornitza Stark Gene: pstpip1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.88 PSTPIP1 Zornitza Stark Classified gene: PSTPIP1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.88 PSTPIP1 Zornitza Stark Gene: pstpip1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.87 PSTPIP1 Zornitza Stark gene: PSTPIP1 was added
gene: PSTPIP1 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: PSTPIP1.
Mode of inheritance for gene: PSTPIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PSTPIP1 were set to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416
Review for gene: PSTPIP1 was set to GREEN
Added comment: Established gene-disease association.

Onset in childhood.

Treatment: adalimumab and tacrolimus, NSAIDs, corticosteroids, BMT

non-genetic confirmatory testing: no
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.86 PPOX Zornitza Stark Marked gene: PPOX as ready
Genomic newborn screening: BabyScreen+ v1.86 PPOX Zornitza Stark Gene: ppox has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.86 PPOX Zornitza Stark Phenotypes for gene: PPOX were changed from Porphyria variegata to Variegate porphyria, childhood-onset, MIM# 620483
Genomic newborn screening: BabyScreen+ v1.85 PPOX Zornitza Stark Tag treatable tag was added to gene: PPOX.
Tag haematological tag was added to gene: PPOX.
Genomic newborn screening: BabyScreen+ v1.85 PPOX Zornitza Stark Mode of inheritance for gene: PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.84 PPOX Zornitza Stark Classified gene: PPOX as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.84 PPOX Zornitza Stark Gene: ppox has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.83 PPOX Zornitza Stark reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Variegate porphyria, childhood-onset, MIM# 620483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.83 POMC Zornitza Stark Marked gene: POMC as ready
Genomic newborn screening: BabyScreen+ v1.83 POMC Zornitza Stark Gene: pomc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.83 POMC Zornitza Stark Phenotypes for gene: POMC were changed from Proopiomelanocortin deficiency to Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734
Genomic newborn screening: BabyScreen+ v1.82 POMC Zornitza Stark Classified gene: POMC as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.82 POMC Zornitza Stark Gene: pomc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.81 POMC Zornitza Stark reviewed gene: POMC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.81 POLE Zornitza Stark Marked gene: POLE as ready
Genomic newborn screening: BabyScreen+ v1.81 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.81 POLE Zornitza Stark Classified gene: POLE as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.81 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.80 POLE Zornitza Stark gene: POLE was added
gene: POLE was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: POLE.
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLE were set to IMAGE-I syndrome, MIM# 618336
Review for gene: POLE was set to GREEN
Added comment: Established gene-disease association.

Multi-system disorder comprising GH and adrenal hypoplasia.

Treatment: hydrocortisone

non-genetic confirmatory testing: hormone levels
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.79 NCF4 Zornitza Stark Marked gene: NCF4 as ready
Genomic newborn screening: BabyScreen+ v1.79 NCF4 Zornitza Stark Gene: ncf4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.79 NCF4 Zornitza Stark Phenotypes for gene: NCF4 were changed from Chronic granulomatous disease 3, autosomal recessive, MIM# 613960; Chronic granulomatous disease to Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960
Genomic newborn screening: BabyScreen+ v1.78 NCF4 Zornitza Stark Classified gene: NCF4 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.78 NCF4 Zornitza Stark Gene: ncf4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.77 NCF4 Zornitza Stark Tag treatable tag was added to gene: NCF4.
Tag immunological tag was added to gene: NCF4.
Genomic newborn screening: BabyScreen+ v1.77 NCF4 Zornitza Stark reviewed gene: NCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.77 LPL Zornitza Stark Marked gene: LPL as ready
Genomic newborn screening: BabyScreen+ v1.77 LPL Zornitza Stark Gene: lpl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.77 LPL Zornitza Stark Classified gene: LPL as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.77 LPL Zornitza Stark Gene: lpl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.76 LPL Zornitza Stark gene: LPL was added
gene: LPL was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, metabolic tags were added to gene: LPL.
Mode of inheritance for gene: LPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, MIM# 238600
Review for gene: LPL was set to GREEN
Added comment: Established gene-disease association.

Bi-allelic disease is severe and presents in infancy.

Treatment: volanesorsen, dietary fat restriction, lomitapide

Non-genetic confirmatory testing: LPL activity
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.75 LAT Zornitza Stark Marked gene: LAT as ready
Genomic newborn screening: BabyScreen+ v1.75 LAT Zornitza Stark Gene: lat has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.75 LAT Zornitza Stark Classified gene: LAT as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.75 LAT Zornitza Stark Gene: lat has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.74 LAT Zornitza Stark gene: LAT was added
gene: LAT was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: LAT.
Mode of inheritance for gene: LAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAT were set to Immunodeficiency 52, MIM# 617514
Review for gene: LAT was set to GREEN
Added comment: Established gene-disease association.

SCID-like presentation.

Treatment: BMT

Non-genetic confirmatory testing: yes
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.73 KLHL3 Zornitza Stark Marked gene: KLHL3 as ready
Genomic newborn screening: BabyScreen+ v1.73 KLHL3 Zornitza Stark Gene: klhl3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.73 KLHL3 Zornitza Stark Classified gene: KLHL3 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.73 KLHL3 Zornitza Stark Gene: klhl3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.72 KLHL3 Zornitza Stark gene: KLHL3 was added
gene: KLHL3 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: KLHL3.
Mode of inheritance for gene: KLHL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KLHL3 were set to Pseudohypoaldosteronism, type IID, MIM# 614495
Review for gene: KLHL3 was set to GREEN
Added comment: Established gene disease association.

Results in hyperkalaemia and later, the development of hypertension.

Treatment: thiazide diuretics normalise electrolytes

Non-genetic confirmatory testing: electrolytes
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.71 IRF8 Zornitza Stark Marked gene: IRF8 as ready
Genomic newborn screening: BabyScreen+ v1.71 IRF8 Zornitza Stark Gene: irf8 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.71 IRF8 Zornitza Stark Classified gene: IRF8 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.71 IRF8 Zornitza Stark Gene: irf8 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.70 IRF8 Zornitza Stark gene: IRF8 was added
gene: IRF8 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: IRF8.
Mode of inheritance for gene: IRF8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IRF8 were set to Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990
Review for gene: IRF8 was set to GREEN
Added comment: At least 4 families reported with bi-allelic variants. Gene-disease association also proposed for mono-allelic variants but only two individuals reported.

Recurrent infections presenting in infancy.

Treatment: BMT

Non-genetic confirmatory testing available
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.69 IL10RB Zornitza Stark Marked gene: IL10RB as ready
Genomic newborn screening: BabyScreen+ v1.69 IL10RB Zornitza Stark Gene: il10rb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.69 IL10RB Zornitza Stark Phenotypes for gene: IL10RB were changed from Inflammatory bowel disease; Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567 to Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567
Genomic newborn screening: BabyScreen+ v1.68 IL10RB Zornitza Stark Classified gene: IL10RB as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.68 IL10RB Zornitza Stark Gene: il10rb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.67 IL10RB Zornitza Stark Tag treatable tag was added to gene: IL10RB.
Tag immunological tag was added to gene: IL10RB.
Genomic newborn screening: BabyScreen+ v1.67 IL10RB Zornitza Stark reviewed gene: IL10RB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.67 IL10 Zornitza Stark Marked gene: IL10 as ready
Genomic newborn screening: BabyScreen+ v1.67 IL10 Zornitza Stark Gene: il10 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.67 IL10 Zornitza Stark Classified gene: IL10 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.67 IL10 Zornitza Stark Gene: il10 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.66 IL10 Zornitza Stark Tag treatable tag was added to gene: IL10.
Tag immunological tag was added to gene: IL10.
Genomic newborn screening: BabyScreen+ v1.66 IL10 Zornitza Stark gene: IL10 was added
gene: IL10 was added to BabyScreen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: IL10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL10 were set to 22236434; 20951137; 19890111
Phenotypes for gene: IL10 were set to Autoinflammatory syndrome, MONDO:0019751, IL10-related
Review for gene: IL10 was set to GREEN
Added comment: Established gene-disease association.

Onset in infancy and childhood.

Treatment: BMT

Non-genetic confirmatory testing: flow cytometry
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.65 IGF1 Zornitza Stark Marked gene: IGF1 as ready
Genomic newborn screening: BabyScreen+ v1.65 IGF1 Zornitza Stark Gene: igf1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.65 IGF1 Zornitza Stark Phenotypes for gene: IGF1 were changed from Insulin-like growth factor deficiency to Insulin-like growth factor I deficiency, MIM# 608747
Genomic newborn screening: BabyScreen+ v1.64 IGF1 Zornitza Stark Classified gene: IGF1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.64 IGF1 Zornitza Stark Gene: igf1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.63 IGF1 Zornitza Stark Tag treatable tag was added to gene: IGF1.
Tag endocrine tag was added to gene: IGF1.
Genomic newborn screening: BabyScreen+ v1.63 IGF1 Zornitza Stark reviewed gene: IGF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Insulin-like growth factor I deficiency, MIM# 608747; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.63 GALNT3 Zornitza Stark Marked gene: GALNT3 as ready
Genomic newborn screening: BabyScreen+ v1.63 GALNT3 Zornitza Stark Gene: galnt3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.63 GALNT3 Zornitza Stark Classified gene: GALNT3 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.63 GALNT3 Zornitza Stark Gene: galnt3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.62 GALNT3 Zornitza Stark gene: GALNT3 was added
gene: GALNT3 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: GALNT3.
Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNT3 were set to Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900
Review for gene: GALNT3 was set to GREEN
Added comment: Established gene-disease association.

Onset in infancy/childhood.

Treatment: dietary restriction, phosphate binders, acetazolamide

Non-genetic confirmatory testing: serum phosphate, calcium, PTH, alkaline phosphatase, vitamin D serum levels, urine calcium, phosphate levels, plasma levels of the C-terminal portion of the phosphate-regulating hormone, fibroblast growth factor 23
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.61 FECH Zornitza Stark Marked gene: FECH as ready
Genomic newborn screening: BabyScreen+ v1.61 FECH Zornitza Stark Gene: fech has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.61 FECH Zornitza Stark Classified gene: FECH as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.61 FECH Zornitza Stark Gene: fech has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.60 FECH Zornitza Stark gene: FECH was added
gene: FECH was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, haematological tags were added to gene: FECH.
Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FECH were set to Protoporphyria, erythropoietic, 1, MIM# 177000
Review for gene: FECH was set to GREEN
Added comment: Established gene-disease association.

Onset of photosensitivity is in infancy/childhood.

Treatment: Afamelanotide

Non-genetic confirmatory testing: free protoporphyrin
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.59 F13B Zornitza Stark Marked gene: F13B as ready
Genomic newborn screening: BabyScreen+ v1.59 F13B Zornitza Stark Gene: f13b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.59 F13B Zornitza Stark Phenotypes for gene: F13B were changed from Factor XIIIB deficiency MIM# 613235; Factor XIIIB deficiency, MIM# 613235 to Factor XIIIB deficiency, MIM#613235
Genomic newborn screening: BabyScreen+ v1.58 F13B Zornitza Stark Classified gene: F13B as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.58 F13B Zornitza Stark Gene: f13b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.57 F13B Zornitza Stark Tag treatable tag was added to gene: F13B.
Tag haematological tag was added to gene: F13B.
Genomic newborn screening: BabyScreen+ v1.57 F13B Zornitza Stark reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor XIIIB deficiency, MIM#613235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.57 F10 Zornitza Stark Classified gene: F10 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.57 F10 Zornitza Stark Gene: f10 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.56 F10 Zornitza Stark Tag for review was removed from gene: F10.
Tag treatable tag was added to gene: F10.
Tag haematological tag was added to gene: F10.
Genomic newborn screening: BabyScreen+ v1.56 F10 Zornitza Stark changed review comment from: Well established gene-disease association.

Variable severity: for review. Affected individuals can manifest prolonged nasal and mucosal haemorrhage, menorrhagia, haematuria, and occasionally hemarthrosis.

Treatment: plasma-derived factor 10 concentrate (Coagadex); to: Well established gene-disease association.

Affected individuals can manifest prolonged nasal and mucosal haemorrhage, menorrhagia, haematuria, and occasionally hemarthrosis.

Treatment: plasma-derived factor 10 concentrate (Coagadex)
Genomic newborn screening: BabyScreen+ v1.56 F10 Zornitza Stark edited their review of gene: F10: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v1.56 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Genomic newborn screening: BabyScreen+ v1.56 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.56 ERCC4 Zornitza Stark Phenotypes for gene: ERCC4 were changed from Xeroderma pigmentosum, group F, MIM# 278760; Xeroderma pigmentosum; Fanconi anaemia, complementation group Q, MIM# 615272 to Fanconi anemia, complementation group Q, MIM# 615272
Genomic newborn screening: BabyScreen+ v1.55 ERCC4 Zornitza Stark Classified gene: ERCC4 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.55 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.54 ERCC4 Zornitza Stark Tag treatable tag was added to gene: ERCC4.
Tag haematological tag was added to gene: ERCC4.
Genomic newborn screening: BabyScreen+ v1.54 ERCC4 Zornitza Stark reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group Q, MIM# 615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.54 CYP7B1 Zornitza Stark Marked gene: CYP7B1 as ready
Genomic newborn screening: BabyScreen+ v1.54 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.54 CYP7B1 Zornitza Stark Phenotypes for gene: CYP7B1 were changed from Cholestasis, severe to Bile acid synthesis defect, congenital, 3, MIM# 613812
Genomic newborn screening: BabyScreen+ v1.53 CYP7B1 Zornitza Stark Publications for gene: CYP7B1 were set to
Genomic newborn screening: BabyScreen+ v1.52 CYP7B1 Zornitza Stark Classified gene: CYP7B1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.52 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.51 CYP7B1 Zornitza Stark Tag treatable tag was added to gene: CYP7B1.
Tag liver tag was added to gene: CYP7B1.
Genomic newborn screening: BabyScreen+ v1.51 CYP7B1 Zornitza Stark reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24658845, 31337596, 30366773, 9802883; Phenotypes: Bile acid synthesis defect, congenital, 3, MIM# 613812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.51 CUL3 Zornitza Stark Marked gene: CUL3 as ready
Genomic newborn screening: BabyScreen+ v1.51 CUL3 Zornitza Stark Gene: cul3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.51 CUL3 Zornitza Stark Classified gene: CUL3 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.51 CUL3 Zornitza Stark Gene: cul3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.50 CUL3 Zornitza Stark gene: CUL3 was added
gene: CUL3 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: CUL3.
Mode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CUL3 were set to Pseudohypoaldosteronism, type IIE 614496
Review for gene: CUL3 was set to GREEN
Added comment: Established gene-disease association.

Variants in this gene also cause a neurodevelopmental disorder; however, there is some genotype-phenotype correlation literature to help distinguish the two.

Results in hyperkalaemia and development of hypertension. However, the onset of hypertension is generally later in life.

Treatment: thiazide diuretics normalise biochemical abnormalities
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.48 COQ6 Zornitza Stark Marked gene: COQ6 as ready
Genomic newborn screening: BabyScreen+ v1.48 COQ6 Zornitza Stark Gene: coq6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.48 COQ6 Zornitza Stark Phenotypes for gene: COQ6 were changed from Nephrotic syndrome with sensorineural deafness; Coenzyme Q10 deficiency, primary, 6, MIM# 614650 to Coenzyme Q10 deficiency, primary, 6, MIM# 614650
Genomic newborn screening: BabyScreen+ v1.47 COQ6 Zornitza Stark Classified gene: COQ6 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.47 COQ6 Zornitza Stark Gene: coq6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.46 COQ6 Zornitza Stark Tag treatable tag was added to gene: COQ6.
Tag metabolic tag was added to gene: COQ6.
Genomic newborn screening: BabyScreen+ v1.46 COQ6 Zornitza Stark reviewed gene: COQ6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 6 MIM#614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.46 COQ2 Zornitza Stark Marked gene: COQ2 as ready
Genomic newborn screening: BabyScreen+ v1.46 COQ2 Zornitza Stark Gene: coq2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.46 COQ2 Zornitza Stark Phenotypes for gene: COQ2 were changed from Coenzyme Q10 deficiency, primary, 1, MIM# 607426; Coenzyme Q10 deficiency, primary, 1 to Coenzyme Q10 deficiency, primary, 1, MIM# 607426
Genomic newborn screening: BabyScreen+ v1.45 COQ2 Zornitza Stark Classified gene: COQ2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.45 COQ2 Zornitza Stark Gene: coq2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.44 COQ2 Zornitza Stark Tag treatable tag was added to gene: COQ2.
Tag metabolic tag was added to gene: COQ2.
Genomic newborn screening: BabyScreen+ v1.44 COQ2 Zornitza Stark reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 1, MIM# 607426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.44 CHRNB1 Zornitza Stark Marked gene: CHRNB1 as ready
Genomic newborn screening: BabyScreen+ v1.44 CHRNB1 Zornitza Stark Gene: chrnb1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.44 CHRNB1 Zornitza Stark Classified gene: CHRNB1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.44 CHRNB1 Zornitza Stark Gene: chrnb1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.43 CHRNB1 Zornitza Stark Tag treatable tag was added to gene: CHRNB1.
Tag neurological tag was added to gene: CHRNB1.
Genomic newborn screening: BabyScreen+ v1.43 CHRNB1 Zornitza Stark reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32895905; Phenotypes: Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313, Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.43 CFI Zornitza Stark Marked gene: CFI as ready
Genomic newborn screening: BabyScreen+ v1.43 CFI Zornitza Stark Gene: cfi has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.43 CFI Zornitza Stark Phenotypes for gene: CFI were changed from Haemolytic uraemic syndrome to Complement factor I deficiency MIM#610984
Genomic newborn screening: BabyScreen+ v1.42 CFI Zornitza Stark Classified gene: CFI as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.42 CFI Zornitza Stark Gene: cfi has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.41 CFI Zornitza Stark reviewed gene: CFI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Complement factor I deficiency MIM#610984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.41 CFH Zornitza Stark Marked gene: CFH as ready
Genomic newborn screening: BabyScreen+ v1.41 CFH Zornitza Stark Gene: cfh has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.41 CFH Zornitza Stark Phenotypes for gene: CFH were changed from Haemolytic uraemic syndrome to Complement factor H deficiency, MIM# 609814
Genomic newborn screening: BabyScreen+ v1.40 CFH Zornitza Stark Classified gene: CFH as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.40 CFH Zornitza Stark Gene: cfh has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.39 CFH Zornitza Stark Tag treatable tag was added to gene: CFH.
Tag immunological tag was added to gene: CFH.
Genomic newborn screening: BabyScreen+ v1.39 CFH Zornitza Stark reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Complement factor H deficiency, MIM# 609814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.39 CFD Zornitza Stark Marked gene: CFD as ready
Genomic newborn screening: BabyScreen+ v1.39 CFD Zornitza Stark Gene: cfd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.39 CFD Zornitza Stark Phenotypes for gene: CFD were changed from Complement factor D deficiency, MIM# 613912; Complement factor D deficiency to Complement factor D deficiency, MIM# 613912
Genomic newborn screening: BabyScreen+ v1.38 CFD Zornitza Stark Publications for gene: CFD were set to
Genomic newborn screening: BabyScreen+ v1.37 CFD Zornitza Stark Classified gene: CFD as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.37 CFD Zornitza Stark Gene: cfd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.36 CFD Zornitza Stark Tag treatable tag was added to gene: CFD.
Tag immunological tag was added to gene: CFD.
Genomic newborn screening: BabyScreen+ v1.36 CFD Zornitza Stark reviewed gene: CFD: Rating: GREEN; Mode of pathogenicity: None; Publications: 11457876, 16527897, 31440263; Phenotypes: Complement factor D deficiency, MIM# 613912; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.36 CEBPE Zornitza Stark Marked gene: CEBPE as ready
Genomic newborn screening: BabyScreen+ v1.36 CEBPE Zornitza Stark Gene: cebpe has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.36 CEBPE Zornitza Stark Classified gene: CEBPE as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.36 CEBPE Zornitza Stark Gene: cebpe has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.35 CEBPE Zornitza Stark Tag treatable tag was added to gene: CEBPE.
Tag immunological tag was added to gene: CEBPE.
Genomic newborn screening: BabyScreen+ v1.35 CEBPE Zornitza Stark gene: CEBPE was added
gene: CEBPE was added to BabyScreen+ newborn screening. Sources: Expert Review
Mode of inheritance for gene: CEBPE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEBPE were set to Specific granule deficiency, MIM# 245480
Review for gene: CEBPE was set to GREEN
Added comment: Established gene-disease association.

Recurrent infections in infancy and childhood.

Treatment: long term antimicrobial prophalaxis

Non-genetic confirmatory testing available
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v1.34 C3 Zornitza Stark Marked gene: C3 as ready
Genomic newborn screening: BabyScreen+ v1.34 C3 Zornitza Stark Gene: c3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.34 C3 Zornitza Stark Phenotypes for gene: C3 were changed from Haemolytic uraemic syndrome; C3 deficiency, MIM# 613779 to C3 deficiency, MIM# 613779
Genomic newborn screening: BabyScreen+ v1.33 C3 Zornitza Stark Classified gene: C3 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.33 C3 Zornitza Stark Gene: c3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.32 C3 Zornitza Stark Tag treatable tag was added to gene: C3.
Tag immunological tag was added to gene: C3.
Genomic newborn screening: BabyScreen+ v1.32 C3 Zornitza Stark reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C3 deficiency, MIM# 613779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.32 C2 Zornitza Stark Marked gene: C2 as ready
Genomic newborn screening: BabyScreen+ v1.32 C2 Zornitza Stark Gene: c2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.32 C2 Zornitza Stark Classified gene: C2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.32 C2 Zornitza Stark Gene: c2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.31 C2 Zornitza Stark Tag treatable tag was added to gene: C2.
Tag immunological tag was added to gene: C2.
Genomic newborn screening: BabyScreen+ v1.31 C2 Zornitza Stark gene: C2 was added
gene: C2 was added to BabyScreen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: C2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2 were set to 31421540
Phenotypes for gene: C2 were set to C2 deficiency, MIM# 217000
Review for gene: C2 was set to GREEN
Added comment: Established gene-disease association.

Can present with severe early infections in infancy/childhood.

Later manifestations include autoimmune phenomena.

Treatment: pneumococcal, meningococcal, haemophilus influenzae vaccines

Non-genetic confirmatory tests: complement levels
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.30 APOA5 Zornitza Stark Marked gene: APOA5 as ready
Genomic newborn screening: BabyScreen+ v1.30 APOA5 Zornitza Stark Gene: apoa5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.30 APOA5 Zornitza Stark gene: APOA5 was added
gene: APOA5 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable tags were added to gene: APOA5.
Mode of inheritance for gene: APOA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOA5 were set to 23307945; 31390500
Phenotypes for gene: APOA5 were set to Hyperchylomicronaemia, late-onset, MIM# 144650
Review for gene: APOA5 was set to RED
Added comment: Established gene-disease association.

Variable age of onset, many of the reported individuals are adults.

Treatment: Volanesorsen
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.29 AP3D1 Zornitza Stark Marked gene: AP3D1 as ready
Genomic newborn screening: BabyScreen+ v1.29 AP3D1 Zornitza Stark Gene: ap3d1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.29 AP3D1 Zornitza Stark Classified gene: AP3D1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v1.29 AP3D1 Zornitza Stark Gene: ap3d1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.28 AP3D1 Zornitza Stark gene: AP3D1 was added
gene: AP3D1 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, haematological tags were added to gene: AP3D1.
Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP3D1 were set to 26744459; 9697856; 30472485; 36445457
Phenotypes for gene: AP3D1 were set to Hermansky-Pudlak syndrome 10, MIM# 617050
Review for gene: AP3D1 was set to AMBER
Added comment: Four individuals from two unrelated families and a mouse model. Borderline gene-disease association.

New case report 36445457, proband presenting with SNHL and questionable other subtle features of HPS, homozygous missense variant (VOUS).

Onset in infancy.

Treatable: BMT for immunodeficiency.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.27 AMACR Zornitza Stark Marked gene: AMACR as ready
Genomic newborn screening: BabyScreen+ v1.27 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.27 AMACR Zornitza Stark Phenotypes for gene: AMACR were changed from Alpha-methylacyl-CoA racemase deficiency; Bile acid synthesis defect, congenital, 4 to Bile acid synthesis defect, congenital, 4, MIM# 214950
Genomic newborn screening: BabyScreen+ v1.26 AMACR Zornitza Stark Publications for gene: AMACR were set to
Genomic newborn screening: BabyScreen+ v1.25 AMACR Zornitza Stark Classified gene: AMACR as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.25 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.24 AMACR Zornitza Stark Tag treatable tag was added to gene: AMACR.
Tag liver tag was added to gene: AMACR.
Genomic newborn screening: BabyScreen+ v1.24 AMACR Zornitza Stark reviewed gene: AMACR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12512044; Phenotypes: Bile acid synthesis defect, congenital, 4, MIM# 214950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.24 ABCD4 Zornitza Stark Tag treatable tag was added to gene: ABCD4.
Genomic newborn screening: BabyScreen+ v1.24 SLC9A3 Zornitza Stark edited their review of gene: SLC9A3: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v1.24 SLC9A3 Zornitza Stark commented on gene: SLC9A3
Genomic newborn screening: BabyScreen+ v1.24 ATRX Zornitza Stark edited their review of gene: ATRX: Changed phenotypes: ATR-X-related syndrome MONDO:0016980
Genomic newborn screening: BabyScreen+ v1.24 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580 to ATR-X-related syndrome MONDO:0016980
Genomic newborn screening: BabyScreen+ v1.23 TRAC Zornitza Stark Marked gene: TRAC as ready
Genomic newborn screening: BabyScreen+ v1.23 TRAC Zornitza Stark Gene: trac has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.23 TRAC Zornitza Stark gene: TRAC was added
gene: TRAC was added to BabyScreen+ newborn screening. Sources: Expert Review
founder, technically challenging tags were added to gene: TRAC.
Mode of inheritance for gene: TRAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAC were set to 21206088
Phenotypes for gene: TRAC were set to Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387
Review for gene: TRAC was set to RED
Added comment: Single variant reported to date in 6 patients; 2 unrelated children from consanguineous families of Pakistani descent (PMID: 21206088); 1 non-consanguineous family from North-west India (PMID: 33909184) and 1 consanguineous parents of East Indian (https://lymphosign.com/doi/10.14785/lymphosign-2022-0001)

Also note annotation issues in certain variant curation and annotation tools.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v1.22 NCF1 Zornitza Stark Classified gene: NCF1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v1.22 NCF1 Zornitza Stark Gene: ncf1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.21 NCF1 Zornitza Stark edited their review of gene: NCF1: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v1.21 HBA1 Zornitza Stark Tag for review was removed from gene: HBA1.
Tag treatable tag was added to gene: HBA1.
Genomic newborn screening: BabyScreen+ v1.21 HBA2 Zornitza Stark Tag for review was removed from gene: HBA2.
Tag technically challenging tag was added to gene: HBA2.
Genomic newborn screening: BabyScreen+ v1.21 HBA1 Zornitza Stark Tag technically challenging tag was added to gene: HBA1.
Genomic newborn screening: BabyScreen+ v1.21 IKBKG Zornitza Stark Tag technically challenging tag was added to gene: IKBKG.
Genomic newborn screening: BabyScreen+ v1.21 IGHM Zornitza Stark Classified gene: IGHM as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.21 IGHM Zornitza Stark Gene: ighm has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.20 IGHM Zornitza Stark changed review comment from: RefSeq annotation issues.; to: RefSeq annotation issues. Specific rescue loop built to capture variants.
Genomic newborn screening: BabyScreen+ v1.20 IGHM Zornitza Stark edited their review of gene: IGHM: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v1.20 NCF1 Zornitza Stark Classified gene: NCF1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.20 NCF1 Zornitza Stark Gene: ncf1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.19 NCF1 Zornitza Stark edited their review of gene: NCF1: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v1.19 NCF1 Zornitza Stark Classified gene: NCF1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v1.19 NCF1 Zornitza Stark Gene: ncf1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.18 NCF1 Zornitza Stark Tag technically challenging tag was added to gene: NCF1.
Genomic newborn screening: BabyScreen+ v1.18 NCF1 Zornitza Stark edited their review of gene: NCF1: Added comment: Mappability issues.; Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v1.18 CYP21A2 Zornitza Stark Classified gene: CYP21A2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.18 CYP21A2 Zornitza Stark Gene: cyp21a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.17 CYP21A2 Zornitza Stark Tag treatable tag was added to gene: CYP21A2.
Tag endocrine tag was added to gene: CYP21A2.
Tag technically challenging tag was added to gene: CYP21A2.
Genomic newborn screening: BabyScreen+ v1.17 CYP21A2 Zornitza Stark edited their review of gene: CYP21A2: Added comment: Part of Victorian sNBS, therefore include, although technically challenging.; Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v1.17 CORO1A Zornitza Stark Tag technically challenging tag was added to gene: CORO1A.
Genomic newborn screening: BabyScreen+ v1.17 F8 Zornitza Stark Tag for review was removed from gene: F8.
Tag technically challenging tag was added to gene: F8.
Genomic newborn screening: BabyScreen+ v1.17 GBA Zornitza Stark Tag technically challenging tag was added to gene: GBA.
Genomic newborn screening: BabyScreen+ v1.17 PMS2 Zornitza Stark Classified gene: PMS2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v1.17 PMS2 Zornitza Stark Gene: pms2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.16 PMS2 Zornitza Stark Tag technically challenging tag was added to gene: PMS2.
Genomic newborn screening: BabyScreen+ v1.16 PMS2 Zornitza Stark edited their review of gene: PMS2: Added comment: Mappability issues.; Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v1.16 IGHM Zornitza Stark Classified gene: IGHM as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v1.16 IGHM Zornitza Stark Gene: ighm has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.15 IGHM Zornitza Stark Tag technically challenging tag was added to gene: IGHM.
Genomic newborn screening: BabyScreen+ v1.15 IGHM Zornitza Stark edited their review of gene: IGHM: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v1.15 IGHM Zornitza Stark commented on gene: IGHM: RefSeq annotation issues.
Genomic newborn screening: BabyScreen+ v1.15 STRC Zornitza Stark Classified gene: STRC as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v1.15 STRC Zornitza Stark Gene: strc has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.14 STRC Zornitza Stark Tag technically challenging tag was added to gene: STRC.
Genomic newborn screening: BabyScreen+ v1.14 STRC Zornitza Stark edited their review of gene: STRC: Added comment: Technical issues with multi-mapping, therefore exclude for now.; Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v1.14 KCNA5 Zornitza Stark Marked gene: KCNA5 as ready
Genomic newborn screening: BabyScreen+ v1.14 KCNA5 Zornitza Stark Gene: kcna5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.14 KCNA5 Zornitza Stark Phenotypes for gene: KCNA5 were changed from Atrial fibrillation to Atrial fibrillation, familial, 7, MIM# 612240
Genomic newborn screening: BabyScreen+ v1.13 KCNA5 Zornitza Stark Classified gene: KCNA5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.13 KCNA5 Zornitza Stark Gene: kcna5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.12 KCNA5 Zornitza Stark reviewed gene: KCNA5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial fibrillation, familial, 7, MIM# 612240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.12 GABRG2 Zornitza Stark Marked gene: GABRG2 as ready
Genomic newborn screening: BabyScreen+ v1.12 GABRG2 Zornitza Stark Gene: gabrg2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.12 GABRG2 Zornitza Stark Classified gene: GABRG2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.12 GABRG2 Zornitza Stark Gene: gabrg2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.12 GABRG2 Zornitza Stark Classified gene: GABRG2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.12 GABRG2 Zornitza Stark Gene: gabrg2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.11 GABRG2 Zornitza Stark reviewed gene: GABRG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 74 618396, Epilepsy, generalized, with febrile seizures plus, type 3 607681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.11 DKC1 Zornitza Stark Marked gene: DKC1 as ready
Genomic newborn screening: BabyScreen+ v1.11 DKC1 Zornitza Stark Gene: dkc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.11 DKC1 Zornitza Stark Phenotypes for gene: DKC1 were changed from Dyskeratosis congenita, X-linked, MIM# 305000; Dyskeratosis congenita to Dyskeratosis congenita, X-linked, MIM# 305000
Genomic newborn screening: BabyScreen+ v1.10 DKC1 Zornitza Stark Classified gene: DKC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.10 DKC1 Zornitza Stark Gene: dkc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.9 DKC1 Zornitza Stark reviewed gene: DKC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, X-linked, MIM# 305000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v1.9 CDKN2A Zornitza Stark Marked gene: CDKN2A as ready
Genomic newborn screening: BabyScreen+ v1.9 CDKN2A Zornitza Stark Gene: cdkn2a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.9 CDKN2A Zornitza Stark Phenotypes for gene: CDKN2A were changed from Melanoma to {Melanoma, cutaneous malignant, 2}, MIM# 155601
Genomic newborn screening: BabyScreen+ v1.8 CDKN2A Zornitza Stark Classified gene: CDKN2A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.8 CDKN2A Zornitza Stark Gene: cdkn2a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.7 CDKN2A Zornitza Stark reviewed gene: CDKN2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Melanoma, cutaneous malignant, 2}, MIM# 155601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.7 BMPR2 Zornitza Stark Marked gene: BMPR2 as ready
Genomic newborn screening: BabyScreen+ v1.7 BMPR2 Zornitza Stark Gene: bmpr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.7 BMPR2 Zornitza Stark Phenotypes for gene: BMPR2 were changed from Pulmonary hypertension, familial primary to Pulmonary hypertension, familial primary, 1, with or without HHT, MIM# 178600
Genomic newborn screening: BabyScreen+ v1.6 BMPR2 Zornitza Stark Classified gene: BMPR2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.6 BMPR2 Zornitza Stark Gene: bmpr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.5 BMPR2 Zornitza Stark reviewed gene: BMPR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary hypertension, familial primary, 1, with or without HHT, MIM# 178600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.5 AIP Zornitza Stark Classified gene: AIP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.5 AIP Zornitza Stark Gene: aip has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.4 AIP Zornitza Stark edited their review of gene: AIP: Changed rating: RED
Genomic newborn screening: BabyScreen+ v1.4 PHOX2B Zornitza Stark Marked gene: PHOX2B as ready
Genomic newborn screening: BabyScreen+ v1.4 PHOX2B Zornitza Stark Gene: phox2b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.4 PHOX2B Zornitza Stark Phenotypes for gene: PHOX2B were changed from Central hypoventilation syndrome to Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MIM# 209880
Genomic newborn screening: BabyScreen+ v1.3 PHOX2B Zornitza Stark Classified gene: PHOX2B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.3 PHOX2B Zornitza Stark Gene: phox2b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.2 PHOX2B Zornitza Stark reviewed gene: PHOX2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MIM# 209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.2 AIP Zornitza Stark Marked gene: AIP as ready
Genomic newborn screening: BabyScreen+ v1.2 AIP Zornitza Stark Gene: aip has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.2 AIP Zornitza Stark Phenotypes for gene: AIP were changed from Pituitary adenoma to Pituitary adenoma predisposition, MIM# 102200
Genomic newborn screening: BabyScreen+ v1.1 AIP Zornitza Stark reviewed gene: AIP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary adenoma predisposition, MIM# 102200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.1 UMPS Zornitza Stark Tag for review was removed from gene: UMPS.
Genomic newborn screening: BabyScreen+ v1.1 SMN1 Zornitza Stark Tag for review was removed from gene: SMN1.
Genomic newborn screening: BabyScreen+ v1.1 OAT Zornitza Stark Tag for review was removed from gene: OAT.
Genomic newborn screening: BabyScreen+ v1.1 MLH1 Zornitza Stark Tag for review was removed from gene: MLH1.
Genomic newborn screening: BabyScreen+ v1.1 KCNJ2 Zornitza Stark Tag for review was removed from gene: KCNJ2.
Tag treatable tag was added to gene: KCNJ2.
Genomic newborn screening: BabyScreen+ v1.1 HIBCH Zornitza Stark Tag for review was removed from gene: HIBCH.
Genomic newborn screening: BabyScreen+ v1.1 NIPAL4 Zornitza Stark Tag for review was removed from gene: NIPAL4.
Tag treatable tag was added to gene: NIPAL4.
Tag dermatological tag was added to gene: NIPAL4.
Genomic newborn screening: BabyScreen+ v1.1 SAMD9 Zornitza Stark Tag treatable tag was added to gene: SAMD9.
Tag endocrine tag was added to gene: SAMD9.
Tag haematological tag was added to gene: SAMD9.
Genomic newborn screening: BabyScreen+ v1.1 PDP1 Zornitza Stark Tag treatable tag was added to gene: PDP1.
Tag metabolic tag was added to gene: PDP1.
Genomic newborn screening: BabyScreen+ v1.1 GFI1 Zornitza Stark Tag treatable tag was added to gene: GFI1.
Tag immunological tag was added to gene: GFI1.
Genomic newborn screening: BabyScreen+ v1.1 DLAT Zornitza Stark Tag treatable tag was added to gene: DLAT.
Tag metabolic tag was added to gene: DLAT.
Genomic newborn screening: BabyScreen+ v1.1 CORO1A Zornitza Stark Tag treatable tag was added to gene: CORO1A.
Tag immunological tag was added to gene: CORO1A.
Genomic newborn screening: BabyScreen+ v1.1 CD70 Zornitza Stark Tag treatable tag was added to gene: CD70.
Tag immunological tag was added to gene: CD70.
Genomic newborn screening: BabyScreen+ v1.1 CD40 Zornitza Stark Tag treatable tag was added to gene: CD40.
Tag immunological tag was added to gene: CD40.
Genomic newborn screening: BabyScreen+ v1.1 BMP1 Zornitza Stark Tag skeletal tag was added to gene: BMP1.
Genomic newborn screening: BabyScreen+ v1.1 Zornitza Stark Panel name changed from Baby Screen+ newborn screening to BabyScreen+ newborn screening
Genomic newborn screening: BabyScreen+ v1.0 Zornitza Stark promoted panel to version 1.0
Genomic newborn screening: BabyScreen+ v0.2180 KCNQ1 Zornitza Stark Phenotypes for gene: KCNQ1 were changed from Long QT syndrome 1, MIM# 192500 to Jervell and Lange-Nielsen syndrome MIM#220400; Long QT syndrome 1, MIM# 192500
Genomic newborn screening: BabyScreen+ v0.2179 KCNQ1 Zornitza Stark Mode of inheritance for gene: KCNQ1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2178 KCNQ1 Zornitza Stark Tag deafness tag was added to gene: KCNQ1.
Genomic newborn screening: BabyScreen+ v0.2178 DMD Zornitza Stark Classified gene: DMD as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2178 DMD Zornitza Stark Gene: dmd has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2177 DMD Zornitza Stark Tag for review was removed from gene: DMD.
Genomic newborn screening: BabyScreen+ v0.2177 DMD Zornitza Stark edited their review of gene: DMD: Added comment: Reviewed with RCH Neurology team: treatments currently not approved by the TGA. Downgrade to Amber, can be upgraded when this changes.; Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.2177 KCNQ1 Lilian Rudd reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301579; Phenotypes: Jervell and Lange-Nielsen syndrome MIM#220400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2177 PLG Zornitza Stark Mode of inheritance for gene: PLG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2176 ABCD4 Zornitza Stark Tag metabolic tag was added to gene: ABCD4.
Genomic newborn screening: BabyScreen+ v0.2176 COL4A6 Zornitza Stark Classified gene: COL4A6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2176 COL4A6 Zornitza Stark Gene: col4a6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2175 COL4A6 Zornitza Stark edited their review of gene: COL4A6: Added comment: Further review of PMID:33840813;

Family A:
- Proband is hemi for COL4A6 and het for GJB2. Mother is het for COL4A6
- hypothesised that in the proband is more severe than the parents due to additive effects of his two variants however, mother's audiometric data was unavailable to confirm this.

Family B:
- Variant does not segregate within family with the proband being WT in this gene
- NM_001287758.1: c.3272G>C is the mutation however, it appears to be an annotation error as it corresponds to NC_000023.11:g.108171443 in GRCh38. At that position, the c. is T not G and the amino acid residue is Val, not Gly.

In addition, there is a missense affecting Gly of GXY in gnomad v3 with 38 hemis.; Changed rating: RED; Changed publications: 33840813; Changed phenotypes: Deafness, X-linked 6 MIM#300914; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.2175 MT-RNR1 Zornitza Stark changed review comment from: The following variants have been associated with aminoglycoside-induced deafness:
m.1555A>G
m.1005T>C
m.1095T>C

Alerts can be placed in medical records to avoid aminoglycoside administration.
Sources: Expert Review; to: The following variants have been associated with aminoglycoside-induced deafness:
m.1555A>G and m.1494C>T

Alerts can be placed in medical records to avoid aminoglycoside administration.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.2175 PDP1 Zornitza Stark Marked gene: PDP1 as ready
Genomic newborn screening: BabyScreen+ v0.2175 PDP1 Zornitza Stark Gene: pdp1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2175 PDP1 Zornitza Stark Phenotypes for gene: PDP1 were changed from Pyruvate dehydrogenase phosphatase deficiency to Pyruvate dehydrogenase phosphatase deficiency, MIM# 608782
Genomic newborn screening: BabyScreen+ v0.2174 PDP1 Zornitza Stark Classified gene: PDP1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2174 PDP1 Zornitza Stark Gene: pdp1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2174 PDP1 Zornitza Stark Classified gene: PDP1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2174 PDP1 Zornitza Stark Gene: pdp1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2173 PDP1 Zornitza Stark reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency, MIM# 608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2173 DLAT Zornitza Stark Marked gene: DLAT as ready
Genomic newborn screening: BabyScreen+ v0.2173 DLAT Zornitza Stark Gene: dlat has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2173 DLAT Zornitza Stark Classified gene: DLAT as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2173 DLAT Zornitza Stark Gene: dlat has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2172 DLAT Zornitza Stark gene: DLAT was added
gene: DLAT was added to Baby Screen+ newborn screening. Sources: Expert Review
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLAT were set to Pyruvate dehydrogenase E2 deficiency, MIM# 245348
Review for gene: DLAT was set to GREEN
Added comment: Well established gene-disease association.

Clinical presentation is in infancy.

Treatment: ketogenic diet has a significant impact on outcome; some cases responsive to thiamine

Non-genetic confirmatory testing: enzymology

Included for consistency with PDHA1/PDHX
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.2171 PDHB Zornitza Stark Marked gene: PDHB as ready
Genomic newborn screening: BabyScreen+ v0.2171 PDHB Zornitza Stark Gene: pdhb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2171 PDHB Zornitza Stark Classified gene: PDHB as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2171 PDHB Zornitza Stark Gene: pdhb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2170 PDHB Zornitza Stark gene: PDHB was added
gene: PDHB was added to Baby Screen+ newborn screening. Sources: Expert Review
treatable, metabolic tags were added to gene: PDHB.
Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, MIM# 614111
Review for gene: PDHB was set to GREEN
Added comment: Well established gene-disease association.

Clinical presentation is in infancy.

Treatment: ketogenic diet has a significant impact on outcome; some cases responsive to thiamine

Non-genetic confirmatory testing: enzymology

Included for consistency with PDHA1/PDHX
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.2169 TUBB4B Zornitza Stark Marked gene: TUBB4B as ready
Genomic newborn screening: BabyScreen+ v0.2169 TUBB4B Zornitza Stark Gene: tubb4b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2169 TUBB4B Zornitza Stark Classified gene: TUBB4B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2169 TUBB4B Zornitza Stark Gene: tubb4b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2168 SUFU Zornitza Stark Marked gene: SUFU as ready
Genomic newborn screening: BabyScreen+ v0.2168 SUFU Zornitza Stark Gene: sufu has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2168 SUFU Zornitza Stark Classified gene: SUFU as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2168 SUFU Zornitza Stark Gene: sufu has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2167 SLITRK6 Zornitza Stark Marked gene: SLITRK6 as ready
Genomic newborn screening: BabyScreen+ v0.2167 SLITRK6 Zornitza Stark Gene: slitrk6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2167 SLITRK6 Zornitza Stark Tag deafness tag was added to gene: SLITRK6.
Genomic newborn screening: BabyScreen+ v0.2167 SLITRK6 Zornitza Stark Classified gene: SLITRK6 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2167 SLITRK6 Zornitza Stark Gene: slitrk6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2166 PAX5 Zornitza Stark Marked gene: PAX5 as ready
Genomic newborn screening: BabyScreen+ v0.2166 PAX5 Zornitza Stark Gene: pax5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2166 PAX5 Zornitza Stark Classified gene: PAX5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2166 PAX5 Zornitza Stark Gene: pax5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2165 GREB1L Zornitza Stark Tag deafness tag was added to gene: GREB1L.
Genomic newborn screening: BabyScreen+ v0.2165 MPZL2 Zornitza Stark Marked gene: MPZL2 as ready
Genomic newborn screening: BabyScreen+ v0.2165 MPZL2 Zornitza Stark Gene: mpzl2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2165 MPZL2 Zornitza Stark Classified gene: MPZL2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2165 MPZL2 Zornitza Stark Gene: mpzl2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2164 LMX1A Zornitza Stark Marked gene: LMX1A as ready
Genomic newborn screening: BabyScreen+ v0.2164 LMX1A Zornitza Stark Gene: lmx1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2164 LMX1A Zornitza Stark Classified gene: LMX1A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2164 LMX1A Zornitza Stark Gene: lmx1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2163 GREB1L Zornitza Stark Marked gene: GREB1L as ready
Genomic newborn screening: BabyScreen+ v0.2163 GREB1L Zornitza Stark Gene: greb1l has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2163 GREB1L Zornitza Stark Classified gene: GREB1L as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2163 GREB1L Zornitza Stark Gene: greb1l has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2162 NLRP3 Zornitza Stark Marked gene: NLRP3 as ready
Genomic newborn screening: BabyScreen+ v0.2162 NLRP3 Zornitza Stark Gene: nlrp3 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2162 NLRP3 Zornitza Stark Classified gene: NLRP3 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2162 NLRP3 Zornitza Stark Gene: nlrp3 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2161 NLRP3 Zornitza Stark Tag treatable tag was added to gene: NLRP3.
Tag immunological tag was added to gene: NLRP3.
Genomic newborn screening: BabyScreen+ v0.2161 NLRP3 Zornitza Stark gene: NLRP3 was added
gene: NLRP3 was added to Baby Screen+ newborn screening. Sources: Expert Review
Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NLRP3 were set to 25038238
Phenotypes for gene: NLRP3 were set to Familial cold inflammatory syndrome 1, MIM#120100 Muckle-Wells syndrome, MIM#191900 CINCA syndrome, MIM#607115 Deafness, autosomal dominant 34, with or without inflammation, MIM#617772 Keratoendothelitis fugax hereditaria, MIM#148200
Review for gene: NLRP3 was set to AMBER
Added comment: Established gene-disease associations.

Variants in this gene cause a spectrum of clinical phenotypes, ranging from onset in infancy to adult-onset, with variable severity. Genotype-phenotype correlation is unclear, hence not suitable for inclusion at this time.

Treatment: corticosteroids, anakinra, rilonacept and canakinumab.

Non-genetic confirmatory testing: no.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.2160 AMT Zornitza Stark Tag treatable tag was added to gene: AMT.
Tag metabolic tag was added to gene: AMT.
Genomic newborn screening: BabyScreen+ v0.2160 AMT Zornitza Stark Publications for gene: AMT were set to
Genomic newborn screening: BabyScreen+ v0.2159 AMT Zornitza Stark Classified gene: AMT as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2159 AMT Zornitza Stark Gene: amt has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2158 AMT Zornitza Stark edited their review of gene: AMT: Added comment: Severe infantile forms: treatment does not currently alter outcomes.

Attenuated forms can have onset in childhood, therapy with sodium benzoate and NMDA (The N-methyl-D-aspartate receptor) receptor site antagonists (dextromethorphan, ketamine) but uncertainty about effectiveness.; Changed rating: AMBER; Changed publications: 35683414
Genomic newborn screening: BabyScreen+ v0.2158 GLDC Zornitza Stark Publications for gene: GLDC were set to 16404748; 34513771
Genomic newborn screening: BabyScreen+ v0.2157 GLDC Zornitza Stark Classified gene: GLDC as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2157 GLDC Zornitza Stark Gene: gldc has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2156 GLDC Zornitza Stark changed review comment from: Severe form likely to present clinically, so milder forms, which are more amenable to treatment are likely to be identified through screening.; to: Severe form likely to present clinically, so milder forms, which are more amenable to treatment are likely to be identified through screening.

However, the effectiveness of treatment is not established, PMID 35683414 for a recent review.
Genomic newborn screening: BabyScreen+ v0.2156 GLDC Zornitza Stark edited their review of gene: GLDC: Changed rating: AMBER; Changed publications: 35683414
Genomic newborn screening: BabyScreen+ v0.2156 GLDC Zornitza Stark Classified gene: GLDC as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2156 GLDC Zornitza Stark Gene: gldc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2155 GLDC Zornitza Stark commented on gene: GLDC: Severe form likely to present clinically, so milder forms, which are more amenable to treatment are likely to be identified through screening.
Genomic newborn screening: BabyScreen+ v0.2155 SAMHD1 Zornitza Stark Classified gene: SAMHD1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2155 SAMHD1 Zornitza Stark Gene: samhd1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2154 SAMHD1 Zornitza Stark reviewed gene: SAMHD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2154 CYP27A1 Zornitza Stark Tag for review was removed from gene: CYP27A1.
Tag metabolic tag was added to gene: CYP27A1.
Genomic newborn screening: BabyScreen+ v0.2154 CYP27A1 Zornitza Stark Classified gene: CYP27A1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2154 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2153 CYP27A1 Zornitza Stark edited their review of gene: CYP27A1: Added comment: Average age of onset is in late childhood, but a proportion would have onset < 5yo and early treatment beneficial.; Changed rating: GREEN; Changed publications: 24442603
Genomic newborn screening: BabyScreen+ v0.2153 SGSH Zornitza Stark Publications for gene: SGSH were set to
Genomic newborn screening: BabyScreen+ v0.2152 SGSH Zornitza Stark Classified gene: SGSH as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2152 SGSH Zornitza Stark Gene: sgsh has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2152 SGSH Zornitza Stark Classified gene: SGSH as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2152 SGSH Zornitza Stark Gene: sgsh has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2152 SGSH Zornitza Stark Classified gene: SGSH as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2152 SGSH Zornitza Stark Gene: sgsh has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2151 SGSH Zornitza Stark Tag clinical trial tag was added to gene: SGSH.
Genomic newborn screening: BabyScreen+ v0.2151 SGSH Zornitza Stark reviewed gene: SGSH: Rating: AMBER; Mode of pathogenicity: None; Publications: 31044143; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2151 GPR161 Zornitza Stark Marked gene: GPR161 as ready
Genomic newborn screening: BabyScreen+ v0.2151 GPR161 Zornitza Stark Gene: gpr161 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2151 GPR161 Zornitza Stark Classified gene: GPR161 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2151 GPR161 Zornitza Stark Gene: gpr161 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2150 GPR161 Zornitza Stark Tag cancer tag was added to gene: GPR161.
Genomic newborn screening: BabyScreen+ v0.2150 CTR9 Zornitza Stark Tag cancer tag was added to gene: CTR9.
Genomic newborn screening: BabyScreen+ v0.2150 CTR9 Zornitza Stark Marked gene: CTR9 as ready
Genomic newborn screening: BabyScreen+ v0.2150 CTR9 Zornitza Stark Gene: ctr9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2150 CTR9 Zornitza Stark Classified gene: CTR9 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2150 CTR9 Zornitza Stark Gene: ctr9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2149 ALK Zornitza Stark Marked gene: ALK as ready
Genomic newborn screening: BabyScreen+ v0.2149 ALK Zornitza Stark Gene: alk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2149 ALK Zornitza Stark Tag cancer tag was added to gene: ALK.
Genomic newborn screening: BabyScreen+ v0.2149 ALK Zornitza Stark Classified gene: ALK as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2149 ALK Zornitza Stark Gene: alk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2148 SUFU Lilian Rudd gene: SUFU was added
gene: SUFU was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SUFU were set to PMID: 29186568
Phenotypes for gene: SUFU were set to {Medulloblastoma} MIM#155255
Penetrance for gene: SUFU were set to Incomplete
Review for gene: SUFU was set to RED
Added comment: Medullobastoma 1st year of life
incomplete penetrance
worse outcomes
no determined screening protocol
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2148 PAX5 Lilian Rudd gene: PAX5 was added
gene: PAX5 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: PAX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAX5 were set to PMID: 24013638
Phenotypes for gene: PAX5 were set to {Leukemia, acute lymphoblastic, susceptibility to, 3} MIM#615545
Penetrance for gene: PAX5 were set to Incomplete
Review for gene: PAX5 was set to RED
Added comment: Incomplete penetrance
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2148 GPR161 Lilian Rudd gene: GPR161 was added
gene: GPR161 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: GPR161 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GPR161 were set to PMID: 31609649
Phenotypes for gene: GPR161 were set to Medulloblastoma predisposition syndrome MIM#155255
Penetrance for gene: GPR161 were set to Incomplete
Review for gene: GPR161 was set to RED
Added comment: Increased risk of medulloblastoma at <3yrs
Also identified in population and healthy parents
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2148 CTR9 Lilian Rudd gene: CTR9 was added
gene: CTR9 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: CTR9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTR9 were set to PMID: 32412586
Phenotypes for gene: CTR9 were set to Wilms tumour predisposition
Penetrance for gene: CTR9 were set to Incomplete
Review for gene: CTR9 was set to RED
Added comment: 9/14 germline variant developed Wilms (in 4 families)
Red due to reduced penetrance
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2148 ALK Lilian Rudd gene: ALK was added
gene: ALK was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALK were set to PMID: 22071890
Phenotypes for gene: ALK were set to {Neuroblastoma, susceptibility to, 3} MIM#613014
Penetrance for gene: ALK were set to Incomplete
Review for gene: ALK was set to RED
Added comment: Reduced penetrance
Not clear guideline on management if detected
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2148 TUBB4B Lilian Rudd gene: TUBB4B was added
gene: TUBB4B was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TUBB4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB4B were set to PMID: 29198720, 35240325
Phenotypes for gene: TUBB4B were set to Leber congenital amaurosis with early-onset deafness MIM#617879
Review for gene: TUBB4B was set to RED
Added comment: The TUBB4B gene has been associated with autosomal dominant Leber congenital amaurosis with early-onset deafness
Not consistently hearing phenotype <5years therefore excluded
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2148 SLITRK6 Lilian Rudd gene: SLITRK6 was added
gene: SLITRK6 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SLITRK6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLITRK6 were set to PMID: 23543054, PMID: 25590127
Phenotypes for gene: SLITRK6 were set to Deafness and myopia MIM#221200
Review for gene: SLITRK6 was set to GREEN
Added comment: Congenital or prelingual deafness (SNHL or ANSD)
high myopia
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2148 MPZL2 Lilian Rudd gene: MPZL2 was added
gene: MPZL2 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: MPZL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPZL2 were set to PMID: 29982980, 29961571, 35734045,33234333
Phenotypes for gene: MPZL2 were set to Deafness, autosomal recessive 111 MIM#618145
Review for gene: MPZL2 was set to RED
Added comment: Most cases are pre-lingual but 29961571, 35734045 report adult onset so I think should be excluded based on variability of age of onset
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2148 CRYM Zornitza Stark Marked gene: CRYM as ready
Genomic newborn screening: BabyScreen+ v0.2148 CRYM Zornitza Stark Gene: crym has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2148 CRYM Zornitza Stark Classified gene: CRYM as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2148 CRYM Zornitza Stark Gene: crym has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2147 COL4A6 Zornitza Stark Marked gene: COL4A6 as ready
Genomic newborn screening: BabyScreen+ v0.2147 COL4A6 Zornitza Stark Added comment: Comment when marking as ready: Agree, report in males only.
Genomic newborn screening: BabyScreen+ v0.2147 COL4A6 Zornitza Stark Gene: col4a6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2147 COL4A6 Zornitza Stark Classified gene: COL4A6 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2147 COL4A6 Zornitza Stark Gene: col4a6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2146 CLDN9 Zornitza Stark Marked gene: CLDN9 as ready
Genomic newborn screening: BabyScreen+ v0.2146 CLDN9 Zornitza Stark Gene: cldn9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2146 CLDN9 Zornitza Stark Classified gene: CLDN9 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2146 CLDN9 Zornitza Stark Gene: cldn9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2145 CEP250 Zornitza Stark Marked gene: CEP250 as ready
Genomic newborn screening: BabyScreen+ v0.2145 CEP250 Zornitza Stark Gene: cep250 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2145 CEP250 Zornitza Stark Classified gene: CEP250 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2145 CEP250 Zornitza Stark Gene: cep250 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2144 ABHD12 Zornitza Stark Marked gene: ABHD12 as ready
Genomic newborn screening: BabyScreen+ v0.2144 ABHD12 Zornitza Stark Gene: abhd12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2144 ABHD12 Zornitza Stark Classified gene: ABHD12 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2144 ABHD12 Zornitza Stark Gene: abhd12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2143 CD164 Zornitza Stark Marked gene: CD164 as ready
Genomic newborn screening: BabyScreen+ v0.2143 CD164 Zornitza Stark Gene: cd164 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2143 CD164 Zornitza Stark Classified gene: CD164 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2143 CD164 Zornitza Stark Gene: cd164 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2142 AP1B1 Zornitza Stark Marked gene: AP1B1 as ready
Genomic newborn screening: BabyScreen+ v0.2142 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2142 AP1B1 Zornitza Stark Classified gene: AP1B1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2142 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2141 AP1B1 Zornitza Stark reviewed gene: AP1B1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Keratitis-ichthyosis-deafness syndrome, autosomal recessive MIM#242150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2141 LMX1A Lilian Rudd gene: LMX1A was added
gene: LMX1A was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: LMX1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMX1A were set to PMID: 29754270
Phenotypes for gene: LMX1A were set to Deafness, autosomal dominant 7 MIM#601412
Review for gene: LMX1A was set to RED
Added comment: Age of onset too variable
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2141 GREB1L Lilian Rudd gene: GREB1L was added
gene: GREB1L was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GREB1L were set to PMID: 29955957, 32585897
Phenotypes for gene: GREB1L were set to Deafness, autosomal dominant 80 MIM#619274
Review for gene: GREB1L was set to GREEN
Added comment: Congenital hearing impairment with cochlear abnormalities
This gene also causes Renal hypodysplasia/aplasia 3 MIM#617805 with no clear difference in mutation spectrum
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2141 CRYM Lilian Rudd gene: CRYM was added
gene: CRYM was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: CRYM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRYM were set to PMID: 12471561, 32742378
Phenotypes for gene: CRYM were set to Deafness, autosomal dominant 40 MIM#616357
Review for gene: CRYM was set to RED
Added comment: Dominant hearing loss
One paper infant onset, the other all adult onset
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2141 COL4A6 Lilian Rudd gene: COL4A6 was added
gene: COL4A6 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: COL4A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: COL4A6 were set to PMID: 33840813, PMID: 23714752
Phenotypes for gene: COL4A6 were set to Deafness, X-linked 6 MIM#300914
Review for gene: COL4A6 was set to GREEN
Added comment: Pre-lingual or congenital deafness in males
consider not reporting in females (may have adult onset hearing impairment)
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2141 CLDN9 Lilian Rudd gene: CLDN9 was added
gene: CLDN9 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: CLDN9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN9 were set to PMID: 34265170
Phenotypes for gene: CLDN9 were set to Deafness, autosomal recessive 116 MIM#619093
Review for gene: CLDN9 was set to RED
Added comment: Age of onset not consistently <5
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2141 CEP250 Lilian Rudd gene: CEP250 was added
gene: CEP250 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: CEP250 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP250 were set to PMID: 34223797, PMID: 29718797, PMID: 30459346, PMID: 28005958
Phenotypes for gene: CEP250 were set to Cone-rod dystrophy and hearing loss 2 MIM#618358
Review for gene: CEP250 was set to RED
Added comment: Hearing loss and RP
Atypical Usher phenotype
Age of onset and penetrance of hearing loss component is variable and seeing as this is the treatable component have excluded from list
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2141 ABHD12 Lilian Rudd gene: ABHD12 was added
gene: ABHD12 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674
Review for gene: ABHD12 was set to RED
Added comment: Age of onset not consistently under 5 for treatable elements such as hearing loss.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2141 CD164 Lilian Rudd gene: CD164 was added
gene: CD164 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: CD164 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CD164 were set to Deafness, autosomal dominant 66 MIM#616969
Review for gene: CD164 was set to RED
Added comment: Green in our mendeliome/deafness but limited evidence by clingen
variable age of onset from newborn to 20's reason for exclusion
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2141 AP1B1 Lilian Rudd gene: AP1B1 was added
gene: AP1B1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1B1 were set to PMID:31630791, 31630788, 33452671
Phenotypes for gene: AP1B1 were set to Keratitis-ichthyosis-deafness syndrome, autosomal recessive MIM#242150
Review for gene: AP1B1 was set to GREEN
Added comment: Icthyosis
progressive hearing loss (childhood) often detected newborn screening
photophobia
corneal scarring/keratitis
variable dev delay
part of copper metabolism pathway but no proven treatment
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2141 LAMP2 Zornitza Stark Classified gene: LAMP2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2141 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2140 LAMP2 Zornitza Stark edited their review of gene: LAMP2: Added comment: Treatment is currently symptomatic.

On watch list with regards to specific treatment/clinical trials.; Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.2140 NKX2-5 Zornitza Stark Tag treatable tag was added to gene: NKX2-5.
Genomic newborn screening: BabyScreen+ v0.2140 MYH7 Zornitza Stark Phenotypes for gene: MYH7 were changed from Laing early-onset distal myopathy, MONDO:0008050; Cardiomyopathy, hypertrophic, 1, OMIM:192600; Dilated cardiomyopathy 1S, MONDO:0013262; Hypertrophic cardiomyopathy 1, MONDO:0008647; Laing distal myopathy, OMIM:160500; Left ventricular noncompaction 5, OMIM:613426; Cardiomyopathy, dilated, 1S, OMIM:613426 to Cardiomyopathy, hypertrophic, 1, MIM# 192600
Genomic newborn screening: BabyScreen+ v0.2139 MYH7 Zornitza Stark Mode of inheritance for gene: MYH7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2138 MYH7 Zornitza Stark Classified gene: MYH7 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2138 MYH7 Zornitza Stark Gene: myh7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2137 MYH7 Zornitza Stark Tag cardiac tag was added to gene: MYH7.
Tag treatable tag was added to gene: MYH7.
Genomic newborn screening: BabyScreen+ v0.2137 MYH7 Zornitza Stark edited their review of gene: MYH7: Added comment: Discussed with paedric cardiologist: include bi-allelic cardiac variants as can present in the neonatal period with an aggressive cardiomyopathy and associated arrhythmias.; Changed rating: GREEN; Changed phenotypes: Cardiomyopathy, hypertrophic, 1, MIM# 192600; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2137 KCNJ2 Zornitza Stark Phenotypes for gene: KCNJ2 were changed from Andersen syndrome MIM#170390; Atrial fibrillation, familial, 9 MIM#613980; Short QT syndrome 3 MIM#609622 to Andersen syndrome MIM#170390
Genomic newborn screening: BabyScreen+ v0.2136 KCNJ2 Zornitza Stark Classified gene: KCNJ2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2136 KCNJ2 Zornitza Stark Gene: kcnj2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2135 KCNJ2 Zornitza Stark edited their review of gene: KCNJ2: Added comment: Include for Andersen syndrome and Long QT-associated variants only. Onset in infancy.; Changed rating: GREEN; Changed phenotypes: Andersen syndrome MIM#170390
Genomic newborn screening: BabyScreen+ v0.2135 TRDN Zornitza Stark Classified gene: TRDN as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2135 TRDN Zornitza Stark Gene: trdn has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2134 TRDN Zornitza Stark changed review comment from: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

For review: age of onset and penetrance.; to: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

Reviewed with paediatric cardiologist: variable penetrance and age of onset, does not fulfil criteria for gNBS.
Genomic newborn screening: BabyScreen+ v0.2134 TRDN Zornitza Stark edited their review of gene: TRDN: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.2134 TECRL Zornitza Stark Classified gene: TECRL as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2134 TECRL Zornitza Stark Gene: tecrl has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2133 TECRL Zornitza Stark changed review comment from: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

For review: age of onset and penetrance.
Sources: ClinGen; to: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

Reviewed with a paediatric cardiologist: variable penetrance and age of onset, does not fulfil criteria for gNBS.
Genomic newborn screening: BabyScreen+ v0.2133 TECRL Zornitza Stark edited their review of gene: TECRL: Changed rating: AMBER; Changed phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021
Genomic newborn screening: BabyScreen+ v0.2133 SCN5A Zornitza Stark Classified gene: SCN5A as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2133 SCN5A Zornitza Stark Gene: scn5a has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2132 SCN5A Zornitza Stark changed review comment from: These two associations have been rated as 'strong actionability' in paediatric patients by ClinGen.

Note LongQT generally has symptom onset in adolescence and Brugada typically presents in adulthood.

For review: age of onset and penetrance.; to: These two associations have been rated as 'strong actionability' in paediatric patients by ClinGen.

Note LongQT generally has symptom onset in adolescence and Brugada typically presents in adulthood.

Reviewed with paediatric cardiologist: generally later age of onset, does not fulfil criteria for gNBS.
Genomic newborn screening: BabyScreen+ v0.2132 SCN5A Zornitza Stark edited their review of gene: SCN5A: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.2132 PRKG1 Zornitza Stark Classified gene: PRKG1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2132 PRKG1 Zornitza Stark Gene: prkg1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2131 PRKG1 Zornitza Stark changed review comment from: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 31 individuals with PRKG1 pathogenic variants indicated that 63% presented with an aortic dissection and 37% had aortic root enlargement. The cumulative risk of an aortic dissection or repair of an aortic aneurysm by age 55 has been estimated as 86% (95% CI: 70-95%).
Sources: ClinGen; to: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 31 individuals with PRKG1 pathogenic variants indicated that 63% presented with an aortic dissection and 37% had aortic root enlargement. The cumulative risk of an aortic dissection or repair of an aortic aneurysm by age 55 has been estimated as 86% (95% CI: 70-95%).

Discussed with a paediatric cardiologist: variable penetrance and age of onset, does not fulfil criteria for gNBS.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.2131 PRKG1 Zornitza Stark edited their review of gene: PRKG1: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.2131 MYH11 Zornitza Stark Classified gene: MYH11 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2131 MYH11 Zornitza Stark Gene: myh11 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2130 MYH11 Zornitza Stark changed review comment from: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 12 individuals with MYH11 pathogenic variants indicated that 34% had an aortic dissection and one individual (8%) underwent prophylactic aortic aneurysm repair.; to: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 12 individuals with MYH11 pathogenic variants indicated that 34% had an aortic dissection and one individual (8%) underwent prophylactic aortic aneurysm repair.

Reviewed with a paediatric cardiologist: variable penetrance and age of onset, does not meet criteria for gNBS.
Genomic newborn screening: BabyScreen+ v0.2130 MYH11 Zornitza Stark edited their review of gene: MYH11: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.2130 LOX Zornitza Stark Classified gene: LOX as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2130 LOX Zornitza Stark Gene: lox has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2129 LOX Zornitza Stark changed review comment from: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 15 individuals with LOX pathogenic variants indicated that 73% had aortic aneurysms and 1 individual (7%) had an aortic dissection.
Sources: ClinGen; to: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 15 individuals with LOX pathogenic variants indicated that 73% had aortic aneurysms and 1 individual (7%) had an aortic dissection.

Discussed with paediatric cardiologist: variable penetrance and age of onset, does not fit with criteria for gNBS.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.2129 LOX Zornitza Stark edited their review of gene: LOX: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.2129 JUP Zornitza Stark Classified gene: JUP as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2129 JUP Zornitza Stark Gene: jup has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2128 JUP Zornitza Stark changed review comment from: Screen for bi-allelic disease as can be earlier onset, more severe.; to: Discussed potentially just screening for bi-allelic disease as can be earlier onset, more severe.

Discussed further with a paediatric cardiologist: variable age of onset and penetrance, therefore does not meet criteria.
Genomic newborn screening: BabyScreen+ v0.2128 JUP Zornitza Stark edited their review of gene: JUP: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.2128 DSP Zornitza Stark Classified gene: DSP as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2128 DSP Zornitza Stark Gene: dsp has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2127 DSP Zornitza Stark changed review comment from: Screen for bi-allelic disease as can be more severe, earlier onset.; to: Discussed screening for bi-allelic disease as can be more severe, earlier onset.

Also discussed with paediatric cardiologist: variable age of onset and penetrance, exclude.
Genomic newborn screening: BabyScreen+ v0.2127 DSP Zornitza Stark edited their review of gene: DSP: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.2127 CASQ2 Zornitza Stark Classified gene: CASQ2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2127 CASQ2 Zornitza Stark Gene: casq2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2126 CASQ2 Zornitza Stark changed review comment from: Well established gene-disease association.

ClinGen: 'strong actionability' both for adult and paediatric patients. Treatment: beta blockers first line; ICD. There are also numerous known arrhythmia triggers which can be avoided.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease.

; to: Well established gene-disease association.

ClinGen: 'strong actionability' both for adult and paediatric patients. Treatment: beta blockers first line; ICD. There are also numerous known arrhythmia triggers which can be avoided.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease.

Reviewed with paediatric cardiologist: variable penetrance and age of onset.
Genomic newborn screening: BabyScreen+ v0.2126 CASQ2 Zornitza Stark edited their review of gene: CASQ2: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.2126 CALM1 Zornitza Stark Classified gene: CALM1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2126 CALM1 Zornitza Stark Gene: calm1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2125 CALM3 Zornitza Stark Phenotypes for gene: CALM3 were changed from Ventricular tachycardia, catecholaminergic polymorphic 6 , MIM# 618782; Long QT syndrome 16, MIM#618782 to Long QT syndrome 16, MIM#618782
Genomic newborn screening: BabyScreen+ v0.2124 CALM3 Zornitza Stark changed review comment from: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease. Instances of sudden infant death syndrome (SIDS) have been associated with pathogenic variants in RYR2.

Individuals with pathogenic variants in CALM1, CALM2 or CALM3 can have a severe phenotype, with earlier onset, QT prolongation, and a high predilection for cardiac arrest and sudden death.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

For review: age of onset and penetrance.
Sources: ClinGen; to: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease. Instances of sudden infant death syndrome (SIDS) have been associated with pathogenic variants in RYR2.

Individuals with pathogenic variants in CALM1, CALM2 or CALM3 can have a severe phenotype, with earlier onset, QT prolongation, and a high predilection for cardiac arrest and sudden death.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

Exclude for CPVT: association has moderate evidence, there are issues with penetrance, and treatment is generally only recommended in symptomatic individuals.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.2124 CALM3 Zornitza Stark edited their review of gene: CALM3: Changed phenotypes: Long QT syndrome 16, MIM#618782
Genomic newborn screening: BabyScreen+ v0.2124 CALM3 Zornitza Stark edited their review of gene: CALM3: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.2124 CALM3 Zornitza Stark edited their review of gene: CALM3: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.2124 CALM2 Zornitza Stark Classified gene: CALM2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2124 CALM2 Zornitza Stark Gene: calm2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2123 CALM2 Zornitza Stark changed review comment from: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease. Instances of sudden infant death syndrome (SIDS) have been associated with pathogenic variants in RYR2.

Individuals with pathogenic variants in CALM1, CALM2 or CALM3 can have a severe phenotype, with earlier onset, QT prolongation, and a high predilection for cardiac arrest and sudden death.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

For review: age of onset and penetrance.
Sources: ClinGen; to: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease. Instances of sudden infant death syndrome (SIDS) have been associated with pathogenic variants in RYR2.

Individuals with pathogenic variants in CALM1, CALM2 or CALM3 can have a severe phenotype, with earlier onset, QT prolongation, and a high predilection for cardiac arrest and sudden death.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

Reviewed with paediatric cardiologist: not for inclusion due to issues with penetrance, plus guidelines only generally recommend treatment is symptomatic individuals.
Genomic newborn screening: BabyScreen+ v0.2123 CALM2 Zornitza Stark edited their review of gene: CALM2: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.2123 CALM1 Zornitza Stark changed review comment from: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease. Instances of sudden infant death syndrome (SIDS) have been associated with pathogenic variants in RYR2.

Individuals with pathogenic variants in CALM1, CALM2 or CALM3 can have a severe phenotype, with earlier onset, QT prolongation, and a high predilection for cardiac arrest and sudden death.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

For review: age of onset and penetrance.
Sources: ClinGen; to: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease. Instances of sudden infant death syndrome (SIDS) have been associated with pathogenic variants in RYR2.

Individuals with pathogenic variants in CALM1, CALM2 or CALM3 can have a severe phenotype, with earlier onset, QT prolongation, and a high predilection for cardiac arrest and sudden death.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

Reviewed with paediatric cardiologist: not for inclusion due to issues with penetrance, plus guidelines only generally recommend treatment is symptomatic individuals.
Genomic newborn screening: BabyScreen+ v0.2123 CALM1 Zornitza Stark edited their review of gene: CALM1: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.2123 VAMP1 Zornitza Stark Marked gene: VAMP1 as ready
Genomic newborn screening: BabyScreen+ v0.2123 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2123 VAMP1 Zornitza Stark Phenotypes for gene: VAMP1 were changed from Spastic ataxia; Myasthenic syndrome, congenital, 25, MIM# 618323 to Myasthenic syndrome, congenital, 25, MIM# 618323
Genomic newborn screening: BabyScreen+ v0.2122 VAMP1 Zornitza Stark Publications for gene: VAMP1 were set to
Genomic newborn screening: BabyScreen+ v0.2121 VAMP1 Zornitza Stark Mode of inheritance for gene: VAMP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2120 VAMP1 Zornitza Stark Classified gene: VAMP1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2120 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2119 VAMP1 Zornitza Stark Tag treatable tag was added to gene: VAMP1.
Tag neurological tag was added to gene: VAMP1.
Genomic newborn screening: BabyScreen+ v0.2119 VAMP1 Zornitza Stark reviewed gene: VAMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28168212, 28253535, 28600779, 17102983; Phenotypes: Myasthenic syndrome, congenital, 25, MIM# 618323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2119 TUBB1 Zornitza Stark Marked gene: TUBB1 as ready
Genomic newborn screening: BabyScreen+ v0.2119 TUBB1 Zornitza Stark Gene: tubb1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2119 TUBB1 Zornitza Stark Classified gene: TUBB1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2119 TUBB1 Zornitza Stark Gene: tubb1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2118 TUBB1 Zornitza Stark Tag treatable tag was added to gene: TUBB1.
Tag endocrine tag was added to gene: TUBB1.
Genomic newborn screening: BabyScreen+ v0.2118 TUBB1 Zornitza Stark gene: TUBB1 was added
gene: TUBB1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TUBB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB1 were set to 30446499
Phenotypes for gene: TUBB1 were set to Congenital hypothyroidism, MONDO:0018612, TUBB1-related; Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112
Review for gene: TUBB1 was set to GREEN
Added comment: At least 3 families reported with congenital hypothyroidism associated with TUBB1 variants. Platelet abnormalities reported.

Treatment: thyroxine.

Non-genetic confirmatory testing: TFTs, blood film.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2117 SLC26A7 Zornitza Stark Marked gene: SLC26A7 as ready
Genomic newborn screening: BabyScreen+ v0.2117 SLC26A7 Zornitza Stark Gene: slc26a7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2117 SLC26A7 Zornitza Stark Classified gene: SLC26A7 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2117 SLC26A7 Zornitza Stark Gene: slc26a7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2116 SLC26A7 Zornitza Stark gene: SLC26A7 was added
gene: SLC26A7 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: SLC26A7.
Mode of inheritance for gene: SLC26A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A7 were set to 34780050; 32486989; 31372509; 30333321
Phenotypes for gene: SLC26A7 were set to Congenital hypothyroidism, MONDO:0018612, SLC26A7-related
Review for gene: SLC26A7 was set to GREEN
Added comment: More than 10 unrelated families reported.

Congenital hypothyroidism.

Treatment: thyroxine.

Should be detected through standard NBS.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2115 OTX2 Zornitza Stark Marked gene: OTX2 as ready
Genomic newborn screening: BabyScreen+ v0.2115 OTX2 Zornitza Stark Gene: otx2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2115 OTX2 Zornitza Stark Classified gene: OTX2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2115 OTX2 Zornitza Stark Gene: otx2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2114 OTX2 Zornitza Stark gene: OTX2 was added
gene: OTX2 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: OTX2.
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OTX2 were set to 18728160; 35320640; 33950863
Phenotypes for gene: OTX2 were set to Pituitary hormone deficiency, combined, 6, MIM# 613986
Review for gene: OTX2 was set to GREEN
Added comment: Variants in this gene have been associated with pituitary hormone deficiency with or without microphthalmia, including of TSH.

Congenital onset.

Microphthalmia would present clinically in the newborn period. Infants with TSH deficiency should be detected by standard NBS.

Treatment: thyroxine and other hormone replacements.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2113 HESX1 Zornitza Stark Marked gene: HESX1 as ready
Genomic newborn screening: BabyScreen+ v0.2113 HESX1 Zornitza Stark Gene: hesx1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2113 HESX1 Zornitza Stark Phenotypes for gene: HESX1 were changed from Septooptic dysplasia, MIM# 182230; Pituitary hypoplasia to Pituitary hormone deficiency, combined, 5, MIM# 182230
Genomic newborn screening: BabyScreen+ v0.2112 HESX1 Zornitza Stark Mode of inheritance for gene: HESX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2111 HESX1 Zornitza Stark Classified gene: HESX1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2111 HESX1 Zornitza Stark Gene: hesx1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2110 HESX1 Zornitza Stark Tag treatable tag was added to gene: HESX1.
Tag endocrine tag was added to gene: HESX1.
Genomic newborn screening: BabyScreen+ v0.2110 HESX1 Zornitza Stark reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 5, MIM# 182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2110 CDCA8 Zornitza Stark Marked gene: CDCA8 as ready
Genomic newborn screening: BabyScreen+ v0.2110 CDCA8 Zornitza Stark Gene: cdca8 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2110 CDCA8 Zornitza Stark Classified gene: CDCA8 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2110 CDCA8 Zornitza Stark Gene: cdca8 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2109 CDCA8 Zornitza Stark gene: CDCA8 was added
gene: CDCA8 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: CDCA8.
Mode of inheritance for gene: CDCA8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CDCA8 were set to 28025328; 29546359
Phenotypes for gene: CDCA8 were set to Congenital hypothyroidism, MONDO:0018612, CDCA8-related
Review for gene: CDCA8 was set to GREEN
Added comment: 4 families (1 with bilallelic variants [parent affected as HTZ], 3 with monoallelic variants) with functional evidence of variants.

Treatment: thyroxine

Likely to be detected on standard NBS.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2108 FOXN1 Zornitza Stark Marked gene: FOXN1 as ready
Genomic newborn screening: BabyScreen+ v0.2108 FOXN1 Zornitza Stark Gene: foxn1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2108 FOXN1 Zornitza Stark Phenotypes for gene: FOXN1 were changed from Congenital alopecia with T-cell immunodeficiency; T-cell immunodeficiency, congenital alopecia, and nail dystrophy , MIM#601705; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, MIM# 618806 to T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, MIM#t 618806
Genomic newborn screening: BabyScreen+ v0.2107 FOXN1 Zornitza Stark Publications for gene: FOXN1 were set to
Genomic newborn screening: BabyScreen+ v0.2106 FOXN1 Zornitza Stark Mode of inheritance for gene: FOXN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2105 FOXN1 Zornitza Stark Classified gene: FOXN1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2105 FOXN1 Zornitza Stark Gene: foxn1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2104 FOXN1 Zornitza Stark Tag treatable tag was added to gene: FOXN1.
Tag immunological tag was added to gene: FOXN1.
Genomic newborn screening: BabyScreen+ v0.2104 FOXN1 Zornitza Stark reviewed gene: FOXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31447097, 18339010, 10206641; Phenotypes: T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705, T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, MIM#t 618806; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2104 TMEM38B Zornitza Stark Marked gene: TMEM38B as ready
Genomic newborn screening: BabyScreen+ v0.2104 TMEM38B Zornitza Stark Gene: tmem38b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2104 TMEM38B Zornitza Stark Classified gene: TMEM38B as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2104 TMEM38B Zornitza Stark Gene: tmem38b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2103 TMEM38B Zornitza Stark Tag treatable tag was added to gene: TMEM38B.
Tag skeletal tag was added to gene: TMEM38B.
Genomic newborn screening: BabyScreen+ v0.2103 TMEM38B Zornitza Stark gene: TMEM38B was added
gene: TMEM38B was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM38B were set to 23054245; 28323974
Phenotypes for gene: TMEM38B were set to Osteogenesis imperfecta, type XIV , MIM#615066
Review for gene: TMEM38B was set to GREEN
Added comment: More than 10 families reported.

Variable severity, onset of fractures generally in infancy.

Treatment: bisphosphanates; improvement in BMD reported.

Non-genetic confirmatory testing: skeletal survey.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2102 SPARC Zornitza Stark Marked gene: SPARC as ready
Genomic newborn screening: BabyScreen+ v0.2102 SPARC Zornitza Stark Gene: sparc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2102 SPARC Zornitza Stark gene: SPARC was added
gene: SPARC was added to Baby Screen+ newborn screening. Sources: Expert list
skeletal tags were added to gene: SPARC.
Mode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPARC were set to 26027498; 34462290
Phenotypes for gene: SPARC were set to Osteogenesis imperfecta, type XVII, MIM# 616507
Review for gene: SPARC was set to RED
Added comment: Established gene-disease association, 5 families reported.

Onset of fractures in infancy.

Prominent neuromuscular features, MRI brain changes; some with ID.

Treatment: bisphosphanates are generally used in OI but the case reports where these have been used do not seem terribly convincing in terms of response/improvement.

Exclude for now.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2101 SP7 Zornitza Stark Marked gene: SP7 as ready
Genomic newborn screening: BabyScreen+ v0.2101 SP7 Zornitza Stark Gene: sp7 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2101 SP7 Zornitza Stark Phenotypes for gene: SP7 were changed from Osteogenesis imperfecta, type XII to Osteogenesis imperfecta, type XII, MIM# 613849
Genomic newborn screening: BabyScreen+ v0.2100 SP7 Zornitza Stark Publications for gene: SP7 were set to
Genomic newborn screening: BabyScreen+ v0.2099 SP7 Zornitza Stark Mode of inheritance for gene: SP7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2098 SP7 Zornitza Stark Classified gene: SP7 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2098 SP7 Zornitza Stark Gene: sp7 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2097 SP7 Zornitza Stark Tag skeletal tag was added to gene: SP7.
Genomic newborn screening: BabyScreen+ v0.2097 SP7 Zornitza Stark reviewed gene: SP7: Rating: AMBER; Mode of pathogenicity: None; Publications: 36881265; Phenotypes: Osteogenesis imperfecta, type XII, MIM# 613849; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2097 SERPINH1 Zornitza Stark Marked gene: SERPINH1 as ready
Genomic newborn screening: BabyScreen+ v0.2097 SERPINH1 Zornitza Stark Gene: serpinh1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2097 SERPINH1 Zornitza Stark Classified gene: SERPINH1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2097 SERPINH1 Zornitza Stark Gene: serpinh1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2096 SERPINH1 Zornitza Stark gene: SERPINH1 was added
gene: SERPINH1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, skeletal tags were added to gene: SERPINH1.
Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINH1 were set to 29520608; 25510505; 33524049
Phenotypes for gene: SERPINH1 were set to Osteogenesis imperfecta, type X, MIM# 613848
Review for gene: SERPINH1 was set to GREEN
Added comment: Established gene-disease association.

Onset of fractures is in infancy.

Treatment: bisphosphanates.

Non-genetic confirmatory testing: skeletal survey.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2095 SERPINF1 Zornitza Stark Marked gene: SERPINF1 as ready
Genomic newborn screening: BabyScreen+ v0.2095 SERPINF1 Zornitza Stark Gene: serpinf1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2095 SERPINF1 Zornitza Stark Classified gene: SERPINF1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2095 SERPINF1 Zornitza Stark Gene: serpinf1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2094 SERPINF1 Zornitza Stark gene: SERPINF1 was added
gene: SERPINF1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, skeletal tags were added to gene: SERPINF1.
Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINF1 were set to 28689307
Phenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI, MIM# 613982
Review for gene: SERPINF1 was set to GREEN
Added comment: Established gene-disease association.

Onset of fractures is in infancy.

Treatment: bisphosphanates.

Non-genetic confirmatory testing: skeletal survey.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2093 PPIB Zornitza Stark Marked gene: PPIB as ready
Genomic newborn screening: BabyScreen+ v0.2093 PPIB Zornitza Stark Gene: ppib has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2093 PPIB Zornitza Stark gene: PPIB was added
gene: PPIB was added to Baby Screen+ newborn screening. Sources: Expert list
skeletal tags were added to gene: PPIB.
Mode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIB were set to 19781681; 32392875
Phenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX, MIM# 259440
Review for gene: PPIB was set to RED
Added comment: Established gene-diseases association.

Most reported families have had severe OI, presenting perinatally, therefore exclude.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2092 PLOD2 Zornitza Stark Marked gene: PLOD2 as ready
Genomic newborn screening: BabyScreen+ v0.2092 PLOD2 Zornitza Stark Gene: plod2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2092 PLOD2 Zornitza Stark Phenotypes for gene: PLOD2 were changed from Bruck syndrome to Bruck syndrome 2, MIM# 609220
Genomic newborn screening: BabyScreen+ v0.2091 PLOD2 Zornitza Stark reviewed gene: PLOD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bruck syndrome 2, MIM# 609220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2091 P3H1 Zornitza Stark Marked gene: P3H1 as ready
Genomic newborn screening: BabyScreen+ v0.2091 P3H1 Zornitza Stark Gene: p3h1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2091 P3H1 Zornitza Stark Classified gene: P3H1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2091 P3H1 Zornitza Stark Gene: p3h1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2090 P3H1 Zornitza Stark gene: P3H1 was added
gene: P3H1 was added to Baby Screen+ newborn screening. Sources: Expert Review
treatable, skeletal tags were added to gene: P3H1.
Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P3H1 were set to 17277775; 18566967
Phenotypes for gene: P3H1 were set to Osteogenesis imperfecta, type VIII, (MIM# 610915)
Review for gene: P3H1 was set to GREEN
Added comment: More than 15 families reported.

Congenital onset.

Treatment: bisphosphanates.

Non-genetic confirmatory testing: skeletal survey.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.2089 MESD Zornitza Stark Marked gene: MESD as ready
Genomic newborn screening: BabyScreen+ v0.2089 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2089 MESD Zornitza Stark Classified gene: MESD as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2089 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2088 MESD Zornitza Stark gene: MESD was added
gene: MESD was added to Baby Screen+ newborn screening. Sources: Expert Review
treatable, skeletal tags were added to gene: MESD.
Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MESD were set to 31564437; 35092157; 33596325; 31564437
Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, MIM# 618644
Review for gene: MESD was set to GREEN
Added comment: More than 5 families reported.

Severe form of OI, some perinatal lethal.

Treatment: bisphosphanates.

Non-genetic confirmatory testing: skeletal survey.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.2087 KDELR2 Zornitza Stark Marked gene: KDELR2 as ready
Genomic newborn screening: BabyScreen+ v0.2087 KDELR2 Zornitza Stark Gene: kdelr2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2087 KDELR2 Zornitza Stark Classified gene: KDELR2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2087 KDELR2 Zornitza Stark Gene: kdelr2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2086 KDELR2 Zornitza Stark gene: KDELR2 was added
gene: KDELR2 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, skeletal tags were added to gene: KDELR2.
Mode of inheritance for gene: KDELR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KDELR2 were set to Osteogenesis imperfecta 21, MIM# 619131
Review for gene: KDELR2 was set to GREEN
Added comment: 4 families with osteogenesis imperfecta reported with functional studies.

Onset in infancy.

Improvement reported with bisphosphanates, similar to other OI.

Non-genetic confirmatory testing: skeletal survey.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2085 FKBP10 Zornitza Stark Marked gene: FKBP10 as ready
Genomic newborn screening: BabyScreen+ v0.2085 FKBP10 Zornitza Stark Gene: fkbp10 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2085 FKBP10 Zornitza Stark Classified gene: FKBP10 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2085 FKBP10 Zornitza Stark Gene: fkbp10 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2084 FKBP10 Zornitza Stark Tag treatable tag was added to gene: FKBP10.
Tag skeletal tag was added to gene: FKBP10.
Genomic newborn screening: BabyScreen+ v0.2084 FKBP10 Zornitza Stark gene: FKBP10 was added
gene: FKBP10 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKBP10 were set to 34173012
Phenotypes for gene: FKBP10 were set to Osteogenesis imperfecta, type XI, OMIM:610968
Review for gene: FKBP10 was set to GREEN
Added comment: Well established gene-disease association.

Early-onset bone fractures and progressive skeletal deformities.

Treatment: bisphosphanates.

Non-genetic confirmatory testing: skeletal survey.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2083 BMP1 Zornitza Stark Marked gene: BMP1 as ready
Genomic newborn screening: BabyScreen+ v0.2083 BMP1 Zornitza Stark Gene: bmp1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2083 BMP1 Zornitza Stark Classified gene: BMP1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2083 BMP1 Zornitza Stark Gene: bmp1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2082 BMP1 Zornitza Stark gene: BMP1 was added
gene: BMP1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: BMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BMP1 were set to 33818922
Phenotypes for gene: BMP1 were set to Osteogenesis imperfecta, type XIII , MIM#614856
Review for gene: BMP1 was set to GREEN
Added comment: Rare cause of OI. 20 families reported.

Treatment: bisphosphanates.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2081 PTH1R Zornitza Stark changed review comment from: Variants in this gene are associated with a range of skeletal disorder.

Wide variability in severity, with BOCD manifesting antenatally.

No specific treatment.; to: Variants in this gene are associated with a range of skeletal disorders.

Wide variability in severity, with BOCD manifesting antenatally.

No specific treatment.
Genomic newborn screening: BabyScreen+ v0.2081 SARS Zornitza Stark Marked gene: SARS as ready
Genomic newborn screening: BabyScreen+ v0.2081 SARS Zornitza Stark Gene: sars has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2081 SARS Zornitza Stark Classified gene: SARS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2081 SARS Zornitza Stark Gene: sars has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2080 SCARB2 Zornitza Stark Marked gene: SCARB2 as ready
Genomic newborn screening: BabyScreen+ v0.2080 SCARB2 Zornitza Stark Gene: scarb2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2080 SCARB2 Zornitza Stark Classified gene: SCARB2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2080 SCARB2 Zornitza Stark Gene: scarb2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2079 SERPING1 Zornitza Stark Marked gene: SERPING1 as ready
Genomic newborn screening: BabyScreen+ v0.2079 SERPING1 Zornitza Stark Gene: serping1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2079 SERPING1 Zornitza Stark Classified gene: SERPING1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2079 SERPING1 Zornitza Stark Gene: serping1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2078 SERPING1 Zornitza Stark Tag treatable tag was added to gene: SERPING1.
Tag immunological tag was added to gene: SERPING1.
Genomic newborn screening: BabyScreen+ v0.2078 SGPL1 Zornitza Stark Marked gene: SGPL1 as ready
Genomic newborn screening: BabyScreen+ v0.2078 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2078 SGPL1 Zornitza Stark Classified gene: SGPL1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2078 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2077 SGPL1 Zornitza Stark Tag renal tag was added to gene: SGPL1.
Genomic newborn screening: BabyScreen+ v0.2077 SLC1A3 Zornitza Stark Marked gene: SLC1A3 as ready
Genomic newborn screening: BabyScreen+ v0.2077 SLC1A3 Zornitza Stark Gene: slc1a3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2077 SLC1A3 Zornitza Stark Classified gene: SLC1A3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2077 SLC1A3 Zornitza Stark Gene: slc1a3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2076 SLC1A3 Zornitza Stark Tag neurological tag was added to gene: SLC1A3.
Genomic newborn screening: BabyScreen+ v0.2076 SMARCD2 Zornitza Stark Marked gene: SMARCD2 as ready
Genomic newborn screening: BabyScreen+ v0.2076 SMARCD2 Zornitza Stark Gene: smarcd2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2076 SMARCD2 Zornitza Stark Classified gene: SMARCD2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2076 SMARCD2 Zornitza Stark Gene: smarcd2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2075 SMARCD2 Zornitza Stark Tag treatable tag was added to gene: SMARCD2.
Tag immunological tag was added to gene: SMARCD2.
Genomic newborn screening: BabyScreen+ v0.2075 SMARCD2 Zornitza Stark reviewed gene: SMARCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Specific granule deficiency 2 MIM#617475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2075 SNX10 Zornitza Stark Marked gene: SNX10 as ready
Genomic newborn screening: BabyScreen+ v0.2075 SNX10 Zornitza Stark Gene: snx10 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2075 SNX10 Zornitza Stark Classified gene: SNX10 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2075 SNX10 Zornitza Stark Gene: snx10 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2074 SNX10 Zornitza Stark Tag treatable tag was added to gene: SNX10.
Tag skeletal tag was added to gene: SNX10.
Genomic newborn screening: BabyScreen+ v0.2074 SORD Zornitza Stark Marked gene: SORD as ready
Genomic newborn screening: BabyScreen+ v0.2074 SORD Zornitza Stark Gene: sord has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2074 SORD Zornitza Stark Classified gene: SORD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2074 SORD Zornitza Stark Gene: sord has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2073 SORD Zornitza Stark Tag treatable tag was added to gene: SORD.
Tag metabolic tag was added to gene: SORD.
Genomic newborn screening: BabyScreen+ v0.2073 SOX3 Zornitza Stark Marked gene: SOX3 as ready
Genomic newborn screening: BabyScreen+ v0.2073 SOX3 Zornitza Stark Gene: sox3 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2073 SOX3 Zornitza Stark Classified gene: SOX3 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2073 SOX3 Zornitza Stark Gene: sox3 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2072 SOX3 Zornitza Stark Tag for review tag was added to gene: SOX3.
Tag treatable tag was added to gene: SOX3.
Tag endocrine tag was added to gene: SOX3.
Genomic newborn screening: BabyScreen+ v0.2072 SOX3 Zornitza Stark reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Panhypopituitarism, X-linked MIM#312000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.2072 STAT1 Zornitza Stark Marked gene: STAT1 as ready
Genomic newborn screening: BabyScreen+ v0.2072 STAT1 Zornitza Stark Gene: stat1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2072 STAT1 Zornitza Stark Mode of inheritance for gene: STAT1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2071 STAT1 Zornitza Stark Classified gene: STAT1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2071 STAT1 Zornitza Stark Gene: stat1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2070 STAT1 Zornitza Stark Tag treatable tag was added to gene: STAT1.
Tag immunological tag was added to gene: STAT1.
Genomic newborn screening: BabyScreen+ v0.2070 STAT1 Zornitza Stark reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2070 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Genomic newborn screening: BabyScreen+ v0.2070 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2070 STIM1 Zornitza Stark Classified gene: STIM1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2070 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2069 STIM1 Zornitza Stark Tag treatable tag was added to gene: STIM1.
Tag immunological tag was added to gene: STIM1.
Genomic newborn screening: BabyScreen+ v0.2069 STIM1 Zornitza Stark reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 10 MIM612783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2069 STK4 Zornitza Stark Marked gene: STK4 as ready
Genomic newborn screening: BabyScreen+ v0.2069 STK4 Zornitza Stark Gene: stk4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2069 STK4 Zornitza Stark Classified gene: STK4 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2069 STK4 Zornitza Stark Gene: stk4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2068 STK4 Zornitza Stark Tag treatable tag was added to gene: STK4.
Tag immunological tag was added to gene: STK4.
Genomic newborn screening: BabyScreen+ v0.2068 STK4 Zornitza Stark reviewed gene: STK4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM#614868; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2068 STX16 Zornitza Stark Marked gene: STX16 as ready
Genomic newborn screening: BabyScreen+ v0.2068 STX16 Zornitza Stark Gene: stx16 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2068 STX16 Zornitza Stark Classified gene: STX16 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2068 STX16 Zornitza Stark Gene: stx16 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2067 STX16 Zornitza Stark Tag treatable tag was added to gene: STX16.
Tag endocrine tag was added to gene: STX16.
Genomic newborn screening: BabyScreen+ v0.2067 SYT2 Zornitza Stark Marked gene: SYT2 as ready
Genomic newborn screening: BabyScreen+ v0.2067 SYT2 Zornitza Stark Gene: syt2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2067 SYT2 Zornitza Stark Mode of inheritance for gene: SYT2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2066 SYT2 Zornitza Stark Classified gene: SYT2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2066 SYT2 Zornitza Stark Gene: syt2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2065 SYT2 Zornitza Stark Tag treatable tag was added to gene: SYT2.
Tag neurological tag was added to gene: SYT2.
Genomic newborn screening: BabyScreen+ v0.2065 TBL1X Zornitza Stark Marked gene: TBL1X as ready
Genomic newborn screening: BabyScreen+ v0.2065 TBL1X Zornitza Stark Gene: tbl1x has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2065 TBL1X Zornitza Stark Classified gene: TBL1X as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2065 TBL1X Zornitza Stark Gene: tbl1x has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2064 TBL1X Zornitza Stark Tag treatable tag was added to gene: TBL1X.
Tag endocrine tag was added to gene: TBL1X.
Genomic newborn screening: BabyScreen+ v0.2064 TF Zornitza Stark Marked gene: TF as ready
Genomic newborn screening: BabyScreen+ v0.2064 TF Zornitza Stark Gene: tf has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2064 TF Zornitza Stark Classified gene: TF as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2064 TF Zornitza Stark Gene: tf has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2063 TF Zornitza Stark Tag treatable tag was added to gene: TF.
Tag haematological tag was added to gene: TF.
Genomic newborn screening: BabyScreen+ v0.2063 SARS Lilian Rudd gene: SARS was added
gene: SARS was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SARS were set to PMID:34570399, PMID: 34194004
Phenotypes for gene: SARS were set to Neurodevelopmental disorder with microcephaly, ataxia, and seizures MIM#617709
Review for gene: SARS was set to RED
Added comment: developmental delay, deafness, cardiomyopathy, epilepsy, and severe febrile decompensations
Rx serine supplementation - limited evidence and sounds supportive only
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 SCARB2 Lilian Rudd gene: SCARB2 was added
gene: SCARB2 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCARB2 were set to PMID: 34337151, PMID: 35346091, PMID: 26677510
Phenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure MIM#254900
Review for gene: SCARB2 was set to RED
Added comment: Onset not <5
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 SERPING1 Lilian Rudd gene: SERPING1 was added
gene: SERPING1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SERPING1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SERPING1 were set to PMID: 32898710
Phenotypes for gene: SERPING1 were set to Angioedema, hereditary, 1 and 2 MIM#106100
Review for gene: SERPING1 was set to RED
Added comment: episodic local subcutaneous edema and submucosal edema involving the upper respiratory and gastrointestinal tracts.

Age of onset not typically <5

Treatment Purified C1 inhibitor concentrate (Cinryze, Berinert, HAEGARDA, or Ruconest), Ecallantide (Kalbitor), Icatibant (Firazyr), Lanadelumab, Orladeyo (berotralstat), FFP or solvent-detergent treated plasma, antisense oligonucleotide treatment (donidalorsen)
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 SGPL1 Lilian Rudd gene: SGPL1 was added
gene: SGPL1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGPL1 were set to PMID: 28165343
Phenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14 MIM#617575
Review for gene: SGPL1 was set to RED
Added comment: infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS), resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects

Rx Hydrocortisone, kidney transplant (treatment doesn't fit screening model as would need to have ESRD before you had it?)
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 SLC1A3 Lilian Rudd gene: SLC1A3 was added
gene: SLC1A3 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC1A3 were set to PMID: 32754645
Phenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6 MIM#612656
Review for gene: SLC1A3 was set to RED
Added comment: ataxia occurs with febrile illnesses
Episodic attacks lasted 2 to 3 hours and were often associated with nausea, vomiting, photophobia, phonophobia, vertigo, diplopia, and/or slurred speech
Not consistently in children <5 and variable severity

Suggested Rx acetazolamide
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 SMARCD2 Lilian Rudd gene: SMARCD2 was added
gene: SMARCD2 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMARCD2 were set to PubMed: 28369036, 33279574, 33025377
Phenotypes for gene: SMARCD2 were set to Specific granule deficiency 2 MIM#617475
Review for gene: SMARCD2 was set to GREEN
Added comment: recurrent infections due to defective neutrophil development. Bone marrow findings include paucity of neutrophil granulocytes, absence of granule proteins in neutrophils, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and patients may die in early childhood unless they undergo hematopoietic stem cell transplantation. Most patients have additional findings, including delayed development, mild dysmorphic features, tooth abnormalities, and distal skeletal defects

Rx bone marrow transplant
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 SNX10 Lilian Rudd gene: SNX10 was added
gene: SNX10 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNX10 were set to PMID: 30885997, PMID: 22499339
Phenotypes for gene: SNX10 were set to Osteopetrosis, autosomal recessive 8 MIM#615085
Review for gene: SNX10 was set to GREEN
Added comment: macrocephaly
failure to thrive
osteopetrosis

Rx bone marrow tranplant
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 SORD Lilian Rudd gene: SORD was added
gene: SORD was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SORD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SORD were set to PMID: 32367058
Phenotypes for gene: SORD were set to Sorbitol dehydrogenase deficiency with peripheral neuropathy MIM#618912
Review for gene: SORD was set to RED
Added comment: Slowly progressive, onset not consistently <5

Rx epalrestat and ranirestat
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 SOX3 Lilian Rudd gene: SOX3 was added
gene: SOX3 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SOX3 were set to PMID: 31678974, PMID: 15800844
Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked MIM#312000
Review for gene: SOX3 was set to AMBER
Added comment: Amber in our mendeliome - reviewed for ID
Green in pituitary disorders

Xq27.1 duplication most common mechanism - inclusion might be a question of whether we can detect CNV's in this region

neonatal hypoglycemia and growth hormone deficiency in addition to variable deficiencies of other pituitary hormones. Brain hypoplasia of the anterior pituitary with hypoplasia or absence of the lower half of the infundibulum

Rx Growth hormone, levothyroxine, hydrocortisone
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 STAT1 Lilian Rudd gene: STAT1 was added
gene: STAT1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: STAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STAT1 were set to PMID: 31512162, PMID: 27117246
Phenotypes for gene: STAT1 were set to Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796
Review for gene: STAT1 was set to GREEN
Added comment: combined immunodeficiency
autosomal recessive (AR) complete STAT1 deficiency, AR partial STAT1 deficiency, autosomal dominant (AD) STAT1 deficiency, and AD STAT1 gain-of-function.
gain of function mutations - treat rituxomab
complete - treat BMT
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 STIM1 Lilian Rudd gene: STIM1 was added
gene: STIM1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: STIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STIM1 were set to PMID: 26469693, PMID: 30949876, PMID: 26560041
Phenotypes for gene: STIM1 were set to Immunodeficiency 10 MIM612783
Review for gene: STIM1 was set to GREEN
Added comment: recurrent infections in childhood due to defective T- and NK-cell function, although the severity is variable. Affected individuals may also have hypotonia, hypohidrosis, or dental enamel hypoplasia consistent with amelogenesis imperfecta

Rx bone marrow transpant

Age of onset is consistently <5 but the severity of infections is highly variable - treatment if the phenotype is severe
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 STK4 Lilian Rudd gene: STK4 was added
gene: STK4 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STK4 were set to PMID: 22294732
Phenotypes for gene: STK4 were set to T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM#614868
Review for gene: STK4 was set to GREEN
Added comment: primary T-cell immunodeficiency syndrome characterized by progressive loss of naive T cells, recurrent bacterial, viral, and fungal infections, warts, and abscesses, autoimmune manifestations, and cardiac malformations, including atrial septal defect

Rx bone marrow transplant
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 STX16 Lilian Rudd gene: STX16 was added
gene: STX16 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: STX16 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: STX16 were set to PMID: 33247854, PMID: 34477200, PMID: 29072892
Phenotypes for gene: STX16 were set to Pseudohypoparathyroidism, type IB MIM#603233
Review for gene: STX16 was set to GREEN
Added comment: characterized clinically by isolated renal PTH resistance manifest as hypocalcemia, hyperphosphatemia, and increased serum PTH
without other features of Albright hereditary osteodystrophy
Rx Calcium, calcitriol, levothyroxine, growth hormone
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 SYT2 Lilian Rudd gene: SYT2 was added
gene: SYT2 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SYT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SYT2 were set to PMID: 32250532, 32776697
Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461
Review for gene: SYT2 was set to GREEN
Added comment: Bi-allelic disease: 32250532 and 32776697, 8 individuals from 6 families, with biallelic loss of function variants in SYT2, clinically manifesting with severe congenital onset hypotonia and weakness, with variable degrees of respiratory involvement. Electrodiagnostic findings consistent with a presynaptic congenital myasthenic syndrome (CMS) in some. Treatment with an acetylcholinesterase inhibitor pursued in 4 indviduals showed clinical improvement with increased strength and function.

Only report biallelic for newborn screening ?
monoallelic causes a later onset distal weakness/neuropathy phenotype - still childhood but variable or not clear - not consistently <5yrs
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 TBL1X Lilian Rudd gene: TBL1X was added
gene: TBL1X was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TBL1X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TBL1X were set to PMID: 27603907
Phenotypes for gene: TBL1X were set to Hypothyroidism, congenital, nongoitrous, 8 MIM#301033
Review for gene: TBL1X was set to GREEN
Added comment: Small thyroid gland
Detected on newborn screening
Can affect carrier females but more mildly
Association with deafness

Rx thyroxine
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 TF Lilian Rudd gene: TF was added
gene: TF was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TF were set to PMID: 32028041, PMID: 19579082, PMID: 11110675
Phenotypes for gene: TF were set to Atransferrinemia MIM#209300
Review for gene: TF was set to GREEN
Added comment: Hypochromic microcytic anaemia from absent transferrin - presents in infancy


Rx Red cell transfusions, deferoxamine
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2063 SAR1B Zornitza Stark Marked gene: SAR1B as ready
Genomic newborn screening: BabyScreen+ v0.2063 SAR1B Zornitza Stark Gene: sar1b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2063 SAR1B Zornitza Stark Classified gene: SAR1B as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2063 SAR1B Zornitza Stark Gene: sar1b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2062 SAR1B Zornitza Stark gene: SAR1B was added
gene: SAR1B was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, gastrointestinal tags were added to gene: SAR1B.
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAR1B were set to Chylomicron retention disease, MIM# 246700
Review for gene: SAR1B was set to GREEN
Added comment: Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. Well established gene-disease association.

Congenital onset.

Treatment: low-fat diet with supplementation of fat-soluble vitamins (A, D, E, and K) and oral essential fatty acid supplementation

Non-genetic confirmatory testing: total cholesterol, triglyceride, LDL-cholesterol, HDL-cholesterol
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2061 SAMD9L Zornitza Stark Marked gene: SAMD9L as ready
Genomic newborn screening: BabyScreen+ v0.2061 SAMD9L Zornitza Stark Gene: samd9l has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2061 SAMD9L Zornitza Stark Classified gene: SAMD9L as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2061 SAMD9L Zornitza Stark Gene: samd9l has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2060 SAMD9L Zornitza Stark gene: SAMD9L was added
gene: SAMD9L was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological, haematological tags were added to gene: SAMD9L.
Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SAMD9L were set to 31306780
Phenotypes for gene: SAMD9L were set to Ataxia-pancytopenia syndrome, MIM# 159550
Review for gene: SAMD9L was set to GREEN
Added comment: At least three unrelated families reported, some postulate GoF whereas others postulate LoF as mechanism.

Ataxia-pancytopenia syndrome (ATXPC) is an autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia. The germline genetic defect is associated with somatic loss of chromosome 7 (monosomy 7) resulting in the deletion of several genes on chromosome 7 that may predispose to the development of myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML).

Treatment: BMT.

Non-genetic confirmatory testing: no.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2059 SAMD9 Zornitza Stark Marked gene: SAMD9 as ready
Genomic newborn screening: BabyScreen+ v0.2059 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2059 SAMD9 Zornitza Stark Classified gene: SAMD9 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2059 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2058 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SAMD9 were set to 31306780
Phenotypes for gene: SAMD9 were set to MIRAGE syndrome, MIM# 617053
Review for gene: SAMD9 was set to GREEN
Added comment: MIRAGE syndrome (MIRAGE) is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection.

Treatment: BMT.

Non-genetic confirmatory testing: no.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2057 THAP11 Zornitza Stark Marked gene: THAP11 as ready
Genomic newborn screening: BabyScreen+ v0.2057 THAP11 Zornitza Stark Gene: thap11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2057 THAP11 Zornitza Stark Phenotypes for gene: THAP11 were changed from Combined methylmalonic acidemia and homocystinuria, cblX like 2 to Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related
Genomic newborn screening: BabyScreen+ v0.2056 THAP11 Zornitza Stark Classified gene: THAP11 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2056 THAP11 Zornitza Stark Gene: thap11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2055 TMEM165 Zornitza Stark Marked gene: TMEM165 as ready
Genomic newborn screening: BabyScreen+ v0.2055 TMEM165 Zornitza Stark Gene: tmem165 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2055 TMEM165 Zornitza Stark Classified gene: TMEM165 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2055 TMEM165 Zornitza Stark Gene: tmem165 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2054 TMEM165 Zornitza Stark Tag metabolic tag was added to gene: TMEM165.
Genomic newborn screening: BabyScreen+ v0.2054 TMEM165 Zornitza Stark reviewed gene: TMEM165: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIk MIM#614727; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2054 TNFRSF13B Zornitza Stark Marked gene: TNFRSF13B as ready
Genomic newborn screening: BabyScreen+ v0.2054 TNFRSF13B Zornitza Stark Gene: tnfrsf13b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2054 TNFRSF13B Zornitza Stark Classified gene: TNFRSF13B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2054 TNFRSF13B Zornitza Stark Gene: tnfrsf13b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2053 TNFRSF13B Zornitza Stark Tag treatable tag was added to gene: TNFRSF13B.
Tag immunological tag was added to gene: TNFRSF13B.
Genomic newborn screening: BabyScreen+ v0.2053 TNFAIP3 Zornitza Stark Marked gene: TNFAIP3 as ready
Genomic newborn screening: BabyScreen+ v0.2053 TNFAIP3 Zornitza Stark Gene: tnfaip3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2053 TNFAIP3 Zornitza Stark Classified gene: TNFAIP3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2053 TNFAIP3 Zornitza Stark Gene: tnfaip3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2052 TNFAIP3 Zornitza Stark Tag treatable tag was added to gene: TNFAIP3.
Tag immunological tag was added to gene: TNFAIP3.
Genomic newborn screening: BabyScreen+ v0.2052 THAP11 Lilian Rudd gene: THAP11 was added
gene: THAP11 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: THAP11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: THAP11 were set to PMID: 28449119, PMID: 31905202
Phenotypes for gene: THAP11 were set to Combined methylmalonic acidemia and homocystinuria, cblX like 2
Review for gene: THAP11 was set to RED
Added comment: Single patient?
Not in our mendeliome
Not enough gene disease validity
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2052 TMEM165 Lilian Rudd gene: TMEM165 was added
gene: TMEM165 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM165 were set to PMID: 28323990, PMID: 35693943, PMID: 22683087
Phenotypes for gene: TMEM165 were set to Congenital disorder of glycosylation, type IIk MIM#614727
Review for gene: TMEM165 was set to AMBER
Added comment: Affected individuals show psychomotor retardation and growth retardation, and most have short stature. Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia. Serum transferrin analysis shows a CDG type II pattern

Rx D-galactose (single paper, 2 unrelated patients and an in vitro study) ?inadequete evidence for treatment? Might need to check with JC if we would offer it maybe include
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2052 TNFRSF13B Lilian Rudd gene: TNFRSF13B was added
gene: TNFRSF13B was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TNFRSF13B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TNFRSF13B were set to PMID: 31681716, PMID: 18981294
Phenotypes for gene: TNFRSF13B were set to Immunodeficiency, common variable, 2 MIM#240500
Review for gene: TNFRSF13B was set to RED
Added comment: hypogammaglobulinemia with low serum IgG, IgM, and IgA, and recurrent infections, including otitis media, respiratory tract infections, and gastrointestinal tract infections. Serum IgG and IgA were low, and serum antibody response to immunization with pneumococcal vaccine was decreased, although T cell-dependent response to tetanus toxin was normal.

I think the age of onset is too variable .

Rx immunoglobulin
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2052 TNFAIP3 Lilian Rudd gene: TNFAIP3 was added
gene: TNFAIP3 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TNFAIP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNFAIP3 were set to PMID: 31587140, PMID: 33101300
Phenotypes for gene: TNFAIP3 were set to Autoinflammatory syndrome, familial, Behcet-like 1 MIM#616744
Review for gene: TNFAIP3 was set to RED
Added comment: Average age of onset 5yrs - too variable re age of onset.

painful and recurrent mucosal ulceration affecting the oral mucosa, gastrointestinal tract, and genital areas. The onset of symptoms is usually in the first decade, although later onset has been reported. Additional more variable features include skin rash, uveitis, and polyarthritis, consistent with a systemic hyperinflammatory state. Many patients have evidence of autoimmune disease. Rare patients may also have concurrent features of immunodeficiency, including recurrent infections with low numbers of certain white blood cells or impaired function of immune cells.

Treatment: Colchicine, glucocorticoid, mesalazine, cyclosporine, methotrexate, azathioprine, anakinra, rituximab, tocilizumab, infliximab
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2052 RNPC3 Zornitza Stark Marked gene: RNPC3 as ready
Genomic newborn screening: BabyScreen+ v0.2052 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2052 RNPC3 Zornitza Stark Classified gene: RNPC3 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2052 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2051 RNPC3 Zornitza Stark gene: RNPC3 was added
gene: RNPC3 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: RNPC3.
Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNPC3 were set to 29866761; 32462814; 33650182
Phenotypes for gene: RNPC3 were set to Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160
Review for gene: RNPC3 was set to GREEN
Added comment: Three unrelated individuals reported with combined and isolated pituitary hormone deficiencies, including GH and TSH.

Onset: congenital.

Treatment: GH, thyroxine.

Non-genetic confirmatory testing: hormone levels.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2050 RASGRP1 Zornitza Stark Marked gene: RASGRP1 as ready
Genomic newborn screening: BabyScreen+ v0.2050 RASGRP1 Zornitza Stark Gene: rasgrp1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2050 RASGRP1 Zornitza Stark Classified gene: RASGRP1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2050 RASGRP1 Zornitza Stark Gene: rasgrp1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2049 RASGRP1 Zornitza Stark gene: RASGRP1 was added
gene: RASGRP1 was added to Baby Screen+ newborn screening. Sources: Literature
treatable, immunological tags were added to gene: RASGRP1.
Mode of inheritance for gene: RASGRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RASGRP1 were set to Immunodeficiency 64 (MIM#618534)
Review for gene: RASGRP1 was set to GREEN
Added comment: Immunodeficiency-64 with lymphoproliferation (IMD64) is an autosomal recessive primary immunodeficiency characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show variably decreased numbers of T cells, with lesser deficiencies of B and NK cells. There is impaired T-cell proliferation and activation; functional defects in B cells and NK cells may also be observed. Patients have increased susceptibility to EBV infection and may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity.

Severe disorder, fatal outcomes reported in childhood.

Treatment: BMT.

Non-genetic confirmatory testing: no.
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.2048 RAC2 Zornitza Stark Marked gene: RAC2 as ready
Genomic newborn screening: BabyScreen+ v0.2048 RAC2 Zornitza Stark Gene: rac2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2048 RAC2 Zornitza Stark Phenotypes for gene: RAC2 were changed from Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia MIM# 618986 to Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia MIM# 618986
Genomic newborn screening: BabyScreen+ v0.2047 RAC2 Zornitza Stark Classified gene: RAC2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2047 RAC2 Zornitza Stark Gene: rac2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2046 RAC2 Zornitza Stark gene: RAC2 was added
gene: RAC2 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: RAC2.
Mode of inheritance for gene: RAC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAC2 were set to Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia MIM# 618986
Review for gene: RAC2 was set to GREEN
Added comment: Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia
13 individuals from 8 unrelated families; mono-allelic; gain of function; multiple mouse models

Mono-allelic missense variants were reported in each individual (5 x De Novo) and resulted in a gain-of -function. (E62K, P34H, N92T, G12R)

These individuals typically presented in infancy with frequent infections, profound leukopaenia, lymphopaenia diarrhoea and hypogammaglobulinaemia.

SCID-like phenotype.

Treatment: IVIG, BMT

Note evidence for the other two immunodeficiency disorders associated with this gene is limited.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2045 PLS3 Zornitza Stark Marked gene: PLS3 as ready
Genomic newborn screening: BabyScreen+ v0.2045 PLS3 Zornitza Stark Gene: pls3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2045 PLS3 Zornitza Stark Classified gene: PLS3 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2045 PLS3 Zornitza Stark Gene: pls3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2044 PLS3 Zornitza Stark Tag treatable tag was added to gene: PLS3.
Tag skeletal tag was added to gene: PLS3.
Genomic newborn screening: BabyScreen+ v0.2044 PLS3 Zornitza Stark gene: PLS3 was added
gene: PLS3 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PLS3 were set to 32655496; 25209159; 29736964; 29884797; 28777485; 24088043
Phenotypes for gene: PLS3 were set to Bone mineral density QTL18, osteoporosis - MIM#300910
Review for gene: PLS3 was set to GREEN
Added comment: Females mildly affected: exclude from screening.

Presentation in males similar to OI, though also variable in severity.

Treatment: safe handling techniques, bisphosphonates, pamidronate, zoledronic acid, teriparatide, denosumab, alendronate

Non-genetic confirmatory testing: skeletal survey
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2043 OTULIN Zornitza Stark Marked gene: OTULIN as ready
Genomic newborn screening: BabyScreen+ v0.2043 OTULIN Zornitza Stark Gene: otulin has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2043 OTULIN Zornitza Stark Classified gene: OTULIN as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2043 OTULIN Zornitza Stark Gene: otulin has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2042 OTULIN Zornitza Stark gene: OTULIN was added
gene: OTULIN was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: OTULIN.
Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099
Review for gene: OTULIN was set to GREEN
Added comment: Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an autosomal recessive autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein (CRP), leukocytosis, and neutrophilia in the absence of any infection.

Onset is generally in infancy.

Treatment: inflixiimab, anakinra, etanercept, corticosteroids.

Non-genetic confirmatory testing: no.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2041 OAS1 Zornitza Stark Marked gene: OAS1 as ready
Genomic newborn screening: BabyScreen+ v0.2041 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2041 OAS1 Zornitza Stark Classified gene: OAS1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2041 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2040 OAS1 Zornitza Stark gene: OAS1 was added
gene: OAS1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: OAS1.
Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OAS1 were set to 34145065; 29455859
Phenotypes for gene: OAS1 were set to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Review for gene: OAS1 was set to GREEN
Added comment: Immunodeficiency-100 with pulmonary alveolar proteinosis and hypogammaglobulinemia (IMD100) is primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Affected individuals may have normal respiratory function at birth. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. Many patients die of respiratory failure in infancy or early childhood.

Treatment: IVIG; BMT is curative.

Non-genetic confirmatory testing: immunoglobulin levels.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2039 NFKBIA Zornitza Stark Marked gene: NFKBIA as ready
Genomic newborn screening: BabyScreen+ v0.2039 NFKBIA Zornitza Stark Gene: nfkbia has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2039 NFKBIA Zornitza Stark Classified gene: NFKBIA as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2039 NFKBIA Zornitza Stark Gene: nfkbia has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2038 NFKBIA Zornitza Stark gene: NFKBIA was added
gene: NFKBIA was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: NFKBIA.
Mode of inheritance for gene: NFKBIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NFKBIA were set to Ectodermal dysplasia and immunodeficiency 2 MIM# 612132
Review for gene: NFKBIA was set to GREEN
Added comment: 12 heterozygous variants were identified in 15 unrelated individuals (de novo in 14 individuals and somatic mosaicism in 1 individual).

Functional studies & two mouse models; demonstrate reported NFKBIA gain-of-function variants resulting in impaired NFKB1 activity.

The majority of individuals displayed recurrent infections, chronic diarrhoea, agammaglobulinaemia, increased IgM, and defects in teeth (hair, nail, sweat glands).

Onset is generally in infancy.

Treatment: BMT.

Non-genetic confirmatory testing: no
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2037 NAXE Zornitza Stark Marked gene: NAXE as ready
Genomic newborn screening: BabyScreen+ v0.2037 NAXE Zornitza Stark Gene: naxe has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2037 NAXE Zornitza Stark gene: NAXE was added
gene: NAXE was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, metabolic tags were added to gene: NAXE.
Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAXE were set to 27122014; 27616477; 31758406
Phenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186
Review for gene: NAXE was set to RED
Added comment: Early-onset progressive encephalopathy with brain oedema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. More than 5 unrelated families reported.

Treatment: niacin

However, single case reported. Treatment not established.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2036 NAXD Zornitza Stark Marked gene: NAXD as ready
Genomic newborn screening: BabyScreen+ v0.2036 NAXD Zornitza Stark Gene: naxd has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2036 NAXD Zornitza Stark Classified gene: NAXD as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2036 NAXD Zornitza Stark Gene: naxd has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2035 NAXD Zornitza Stark gene: NAXD was added
gene: NAXD was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, metabolic tags were added to gene: NAXD.
Mode of inheritance for gene: NAXD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAXD were set to 30576410; 31755961; 32462209; 35231119
Phenotypes for gene: NAXD were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321
Review for gene: NAXD was set to AMBER
Added comment: Seven unrelated cases, episodes of fever/infection prior to deterioration reported. Variable phenotype: one patient reported with neurodevelopmental disorder, autism spectrum disorder and a muscular-dystrophy-like myopathy; another with progressive encephalopathy with brain oedema. Patient cells and muscle biopsies also showed impaired mitochondrial function, higher sensitivity to metabolic stress, and decreased mitochondrial reactive oxygen species production. In vitro functional assays also conducted.

Treatment: niacin

However, only two cases reported. Treatment not established.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2034 MYD88 Zornitza Stark Marked gene: MYD88 as ready
Genomic newborn screening: BabyScreen+ v0.2034 MYD88 Zornitza Stark Gene: myd88 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2034 MYD88 Zornitza Stark Classified gene: MYD88 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2034 MYD88 Zornitza Stark Gene: myd88 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2033 MYD88 Zornitza Stark gene: MYD88 was added
gene: MYD88 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: MYD88.
Mode of inheritance for gene: MYD88 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYD88 were set to 18669862; 20538326; 31301515
Phenotypes for gene: MYD88 were set to Immunodeficiency 68, MIM# 612260
Review for gene: MYD88 was set to GREEN
Added comment: Immunodeficiency-68 (IMD68) is an autosomal recessive primary immunodeficiency characterized by severe systemic and invasive bacterial infections beginning in infancy or early childhood. The most common organisms implicated are Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas, although other organisms may be observed.

At least 7 families and a mouse model.

Treatment: Prophylactic antibiotic treatment, pneumococcal, meningococcal, haemophilus influenzae vaccines, and immunoglobulin replacement.

Non-genetic confirmatory testing: toll-like receptor function
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2032 MTHFS Zornitza Stark Marked gene: MTHFS as ready
Genomic newborn screening: BabyScreen+ v0.2032 MTHFS Zornitza Stark Gene: mthfs has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2032 MTHFS Zornitza Stark gene: MTHFS was added
gene: MTHFS was added to Baby Screen+ newborn screening. Sources: Expert list
metabolic tags were added to gene: MTHFS.
Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFS were set to 30031689; 31844630; 22303332
Phenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367
Review for gene: MTHFS was set to RED
Added comment: Established gene-disease association.

Onset in infancy. Severe disorder.

Treatment: single report of some improvement with combination of oral L-5- methyltetrahydrofolate and intramuscular methylcobalamin
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2031 MTHFD1 Zornitza Stark Marked gene: MTHFD1 as ready
Genomic newborn screening: BabyScreen+ v0.2031 MTHFD1 Zornitza Stark Gene: mthfd1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2031 MTHFD1 Zornitza Stark Classified gene: MTHFD1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2031 MTHFD1 Zornitza Stark Gene: mthfd1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2030 MTHFD1 Zornitza Stark gene: MTHFD1 was added
gene: MTHFD1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological, haematological tags were added to gene: MTHFD1.
Mode of inheritance for gene: MTHFD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFD1 were set to 32414565; 19033438
Phenotypes for gene: MTHFD1 were set to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780
Review for gene: MTHFD1 was set to GREEN
Added comment: 8 individuals from 4 unrelated families have been reported; multiple mouse models

7 individuals were Compound heterozygous (nonsense & missense) and 1 was homozygous (missense) for MTHFD1 variants often resulting in alteration of highly conserved residues in binding-sites.

Individuals typically present with megaloblastic anaemia, atypical hemolytic uremic syndrome, hyperhomocysteinaemia, microangiopathy, recurrent infections and autoimmune diseases.

Treatment: hydroxocobalamin, folinic acid and betaine

Non-genetic confirmatory testing: T and B Lymphocyte and Natural Killer Cell Profile, complete blood count with MCV, plasma homocysteine and methylmalonic acid levels, CSF
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2029 MNX1 Zornitza Stark Marked gene: MNX1 as ready
Genomic newborn screening: BabyScreen+ v0.2029 MNX1 Zornitza Stark Gene: mnx1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2029 MNX1 Zornitza Stark Classified gene: MNX1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2029 MNX1 Zornitza Stark Gene: mnx1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2028 MNX1 Zornitza Stark gene: MNX1 was added
gene: MNX1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: MNX1.
Mode of inheritance for gene: MNX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MNX1 were set to 36586106
Phenotypes for gene: MNX1 were set to Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related
Review for gene: MNX1 was set to GREEN
Added comment: Three unrelated families reported. Presentation is in newborn period.

Treatment: insulin.

Non-genetic confirmatory testing: glucose tolerance test, hemoglobin A1C, insulin level, glucose level
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2027 MALT1 Zornitza Stark Marked gene: MALT1 as ready
Genomic newborn screening: BabyScreen+ v0.2027 MALT1 Zornitza Stark Gene: malt1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2027 MALT1 Zornitza Stark Classified gene: MALT1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2027 MALT1 Zornitza Stark Gene: malt1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2026 MALT1 Zornitza Stark gene: MALT1 was added
gene: MALT1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: MALT1.
Mode of inheritance for gene: MALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MALT1 were set to Immunodeficiency 12 MIM# 615468
Review for gene: MALT1 was set to GREEN
Added comment: 5 individuals from 3 unrelated families with immunodeficiency phenotype have reported variants in MALT1; two MALT1-knockout mouse models displaying primary T- and B-cell lymphocyte deficiency.

Variants identified were homozygous missense variants resulting in the alteration of highly conserved residue domains.

All individuals reported onset in infancy of recurrent bacterial/ fungal/ viral infections leading to bronchiectasis and poor T-cell proliferation.

Treatment: prophylactic antibiotics, IVIG, BMT.

Non-genetic confirmatory testing: no
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2025 MAGT1 Zornitza Stark Marked gene: MAGT1 as ready
Genomic newborn screening: BabyScreen+ v0.2025 MAGT1 Zornitza Stark Gene: magt1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2025 MAGT1 Zornitza Stark Classified gene: MAGT1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2025 MAGT1 Zornitza Stark Gene: magt1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2024 MAGT1 Zornitza Stark gene: MAGT1 was added
gene: MAGT1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: MAGT1.
Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MAGT1 were set to 31036665; 31714901
Phenotypes for gene: MAGT1 were set to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853)
Review for gene: MAGT1 was set to GREEN
Added comment: XMEN is an X-linked recessive immunodeficiency characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation. Affected individuals have chronic Epstein-Barr virus (EBV) infection and are susceptible to the development of EBV-associated B-cell lymphoproliferative disorders.

Variable age of onset, including in early childhood.

Treatment: Mg supplementation; IVIG, BMT.

Non-genetic confirmatory testing: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile, Carbohydrate deficient glycosylation profile
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2023 LRBA Zornitza Stark Marked gene: LRBA as ready
Genomic newborn screening: BabyScreen+ v0.2023 LRBA Zornitza Stark Gene: lrba has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2023 LRBA Zornitza Stark Classified gene: LRBA as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2023 LRBA Zornitza Stark Gene: lrba has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2022 LRBA Zornitza Stark gene: LRBA was added
gene: LRBA was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: LRBA.
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRBA were set to 22608502; 22721650; 25468195; 26206937; 33155142; 31887391
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700
Review for gene: LRBA was set to GREEN
Added comment: Well established gene-disease association.

Generally childhood onset with recurrent infections and autoimmune phenomena.

Treatment: abatacept, BMT.

Non-genetic confirmatory testing: immunoglobulin levels.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2021 LIG1 Zornitza Stark Marked gene: LIG1 as ready
Genomic newborn screening: BabyScreen+ v0.2021 LIG1 Zornitza Stark Gene: lig1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2021 LIG1 Zornitza Stark Classified gene: LIG1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2021 LIG1 Zornitza Stark Gene: lig1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2020 LIG1 Zornitza Stark gene: LIG1 was added
gene: LIG1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: LIG1.
Mode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG1 were set to 30395541
Phenotypes for gene: LIG1 were set to Immunodeficiency 96, MIM# 619774
Review for gene: LIG1 was set to GREEN
Added comment: Established gene-disease association.

Onset is generally in early childhood.

Presents with recurrent severe infections.

Treatment: IVIG, BMT.

Non-genetic confirmatory testing: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile, complete blood count
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2019 LEP Zornitza Stark Marked gene: LEP as ready
Genomic newborn screening: BabyScreen+ v0.2019 LEP Zornitza Stark Gene: lep has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2019 LEP Zornitza Stark Classified gene: LEP as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2019 LEP Zornitza Stark Gene: lep has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2018 LEP Zornitza Stark gene: LEP was added
gene: LEP was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: LEP.
Mode of inheritance for gene: LEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LEP were set to 26567097
Phenotypes for gene: LEP were set to Obesity, morbid, due to leptin deficiency (MIM#614962)
Review for gene: LEP was set to GREEN
Added comment: Established gene-disease association.

Onset is in infancy/early childhood. Similar disorders included.

Treatment: metreleptin.

Non-genetic confirmatory testing: leptin level.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2017 JAGN1 Zornitza Stark Marked gene: JAGN1 as ready
Genomic newborn screening: BabyScreen+ v0.2017 JAGN1 Zornitza Stark Gene: jagn1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2017 JAGN1 Zornitza Stark Classified gene: JAGN1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2017 JAGN1 Zornitza Stark Gene: jagn1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2016 JAGN1 Zornitza Stark gene: JAGN1 was added
gene: JAGN1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: JAGN1.
Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAGN1 were set to 25129144
Phenotypes for gene: JAGN1 were set to Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022
Review for gene: JAGN1 was set to GREEN
Added comment: Established gene-disease association.

Typically presents in early childhood with severe infections.

Treatment: G-CSF, BMT.

Non-genetic confirmatory testing: complete blood count, bone marrow aspiration and biopsy
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2015 TNFRSF13C Zornitza Stark Marked gene: TNFRSF13C as ready
Genomic newborn screening: BabyScreen+ v0.2015 TNFRSF13C Zornitza Stark Gene: tnfrsf13c has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2015 TNFRSF13C Zornitza Stark Classified gene: TNFRSF13C as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2015 TNFRSF13C Zornitza Stark Gene: tnfrsf13c has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2014 ITK Zornitza Stark Marked gene: ITK as ready
Genomic newborn screening: BabyScreen+ v0.2014 ITK Zornitza Stark Gene: itk has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2014 ITK Zornitza Stark Classified gene: ITK as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2014 ITK Zornitza Stark Gene: itk has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2013 ITK Zornitza Stark gene: ITK was added
gene: ITK was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: ITK.
Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITK were set to Lymphoproliferative syndrome 1, MIM# 613011
Review for gene: ITK was set to GREEN
Added comment: 7 individuals from 5 unrelated families reported homozygous (missense/ nonsense) ITK variants consistent with Lymphoproliferative syndrome phenotype. Triggered by EBV infection.

Two ITK-deficient mouse models demonstrated reduced T cells (CD4+), causing decreased CD4 to CD8 ratio.

Patients displayed early onset of features typically including fever, lymphadenopathy, autoimmune disorders, low immunoglobulins and high EBV viral load.

Fatal without BMT.

Non-genetic confirmatory testing: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2012 IRS4 Zornitza Stark changed review comment from: Nongoitrous congenital hypothyroidism-9 (CHNG9) is characterized by a small thyroid gland with low free T4 (FT4) levels and inappropriately normal levels of thyroid-stimulating hormone (TSH). Five unrelated families reported.

Most identified through standard NBS.
Sources: Expert list; to: Nongoitrous congenital hypothyroidism-9 (CHNG9) is characterized by a small thyroid gland with low free T4 (FT4) levels and inappropriately normal levels of thyroid-stimulating hormone (TSH). Five unrelated families reported.

Most identified through standard NBS.

Treatment: thyroxine.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2012 IRS4 Zornitza Stark Marked gene: IRS4 as ready
Genomic newborn screening: BabyScreen+ v0.2012 IRS4 Zornitza Stark Gene: irs4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2012 IRS4 Zornitza Stark Classified gene: IRS4 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2012 IRS4 Zornitza Stark Gene: irs4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2011 IRS4 Zornitza Stark gene: IRS4 was added
gene: IRS4 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: IRS4.
Mode of inheritance for gene: IRS4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IRS4 were set to 30061370
Phenotypes for gene: IRS4 were set to Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035
Review for gene: IRS4 was set to GREEN
Added comment: Nongoitrous congenital hypothyroidism-9 (CHNG9) is characterized by a small thyroid gland with low free T4 (FT4) levels and inappropriately normal levels of thyroid-stimulating hormone (TSH). Five unrelated families reported.

Most identified through standard NBS.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2010 TNFRSF13C Lilian Rudd gene: TNFRSF13C was added
gene: TNFRSF13C was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TNFRSF13C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF13C were set to PMID: 19666484, PMID: 27250108, PMID: 18025937
Phenotypes for gene: TNFRSF13C were set to Immunodeficiency, common variable, 4 MIM#613494
Review for gene: TNFRSF13C was set to RED
Added comment: Amber in our mendeliome
Later childhood or adult onset.
BAFFR deficiency in humans is characterized by very few circulating B cells, very low IgM and IgG serum concentrations but normal or high IgA levels.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2010 IL36RN Zornitza Stark Marked gene: IL36RN as ready
Genomic newborn screening: BabyScreen+ v0.2010 IL36RN Zornitza Stark Gene: il36rn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2010 IL36RN Zornitza Stark Classified gene: IL36RN as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2010 IL36RN Zornitza Stark Gene: il36rn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2009 IL36RN Zornitza Stark gene: IL36RN was added
gene: IL36RN was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: IL36RN.
Mode of inheritance for gene: IL36RN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL36RN were set to 31286990
Phenotypes for gene: IL36RN were set to Psoriasis 14, pustular, MIM# 614204
Review for gene: IL36RN was set to GREEN
Added comment: Generalized pustular psoriasis (GPP) is a life-threatening disease characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein.

Variable age of onset but predominantly in infancy/early childhood.

Treatment: ustekinumab, secukinumab, etanercept.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2008 IL2RA Zornitza Stark Marked gene: IL2RA as ready
Genomic newborn screening: BabyScreen+ v0.2008 IL2RA Zornitza Stark Gene: il2ra has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2008 IL2RA Zornitza Stark Classified gene: IL2RA as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2008 IL2RA Zornitza Stark Gene: il2ra has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2007 IL2RA Zornitza Stark gene: IL2RA was added
gene: IL2RA was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: IL2RA.
Mode of inheritance for gene: IL2RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL2RA were set to Immunodeficiency 41 with lymphoproliferation and autoimmunity, MIM# 606367
Review for gene: IL2RA was set to GREEN
Added comment: Immunodeficiency-41 is a disorder of immune dysregulation. Affected individuals present in infancy with recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions. Immunologic studies show a defect in T-cell regulation.

At least 4 unrelated families reported.

Treatment: rapamycin, bone marrow transplant.

Confirmatory non-genetic testing: flow cytometric analysis.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2006 IL21R Zornitza Stark Marked gene: IL21R as ready
Genomic newborn screening: BabyScreen+ v0.2006 IL21R Zornitza Stark Gene: il21r has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2006 IL21R Zornitza Stark Classified gene: IL21R as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2006 IL21R Zornitza Stark Gene: il21r has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2005 IL21R Zornitza Stark gene: IL21R was added
gene: IL21R was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: IL21R.
Mode of inheritance for gene: IL21R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL21R were set to Immunodeficiency 56, MIM# 615207
Review for gene: IL21R was set to GREEN
Added comment: Biallelic inactivating mutations in IL21R causes a combined immunodeficiency that is often complicated by cryptosporidium infections.

More than 20 individuals reported. Recent series of 13 individuals: the main clinical manifestations were recurrent bacterial (84.6%), fungal (46.2%), and viral (38.5%) infections; cryptosporidiosis-associated cholangitis (46.2%); and asthma (23.1%). Inflammatory skin diseases (15.3%) and recurrent anaphylaxis (7.9%) constitute novel phenotypes of this combined immunodeficiency. Most patients exhibited hypogammaglobulinaemia and reduced proportions of memory B cells, circulating T follicular helper cells, MAIT cells and terminally differentiated NK cells. However, IgE levels were elevated in 50% of IL-21R-deficient patients.

Onset: infancy/early childhood.

Treatment: BMT.

Non-genetic confirmatory testing: immunoglobulin levels.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2004 IL1RN Zornitza Stark Marked gene: IL1RN as ready
Genomic newborn screening: BabyScreen+ v0.2004 IL1RN Zornitza Stark Gene: il1rn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2004 IL1RN Zornitza Stark Classified gene: IL1RN as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2004 IL1RN Zornitza Stark Gene: il1rn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2003 IL1RN Zornitza Stark gene: IL1RN was added
gene: IL1RN was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: IL1RN.
Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL1RN were set to Interleukin 1 receptor antagonist deficiency, MIM# 612852
Review for gene: IL1RN was set to GREEN
Added comment: Severe immunodeficiency, onset in infancy. Multi-system involvement, can be fatal if untreated.

Treatment: anakinra, etanercept, methotrexate, corticosteroid
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2002 IKZF1 Zornitza Stark Marked gene: IKZF1 as ready
Genomic newborn screening: BabyScreen+ v0.2002 IKZF1 Zornitza Stark Gene: ikzf1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2002 IKZF1 Zornitza Stark Classified gene: IKZF1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2002 IKZF1 Zornitza Stark Gene: ikzf1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2001 IKZF1 Zornitza Stark Tag treatable tag was added to gene: IKZF1.
Tag immunological tag was added to gene: IKZF1.
Genomic newborn screening: BabyScreen+ v0.2001 IKZF1 Zornitza Stark edited their review of gene: IKZF1: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.2001 IKZF1 Zornitza Stark gene: IKZF1 was added
gene: IKZF1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IKZF1 were set to Immunodeficiency, common variable, 13 MIM# 616873
Added comment: Over 25 individuals from 9 unrelated families with variants in IKZF1 displaying Immunodeficiency; three mouse models Heterozygous missense, frameshift and deletion variants in IKZF1 gene resulting in loss or alteration of a zinc finger DNA contact site cause LoF. Typically presents with recurrent bacterial respiratory infections, hypogammaglobulinaemia and low Ig levels; variable age of onset.

PMID 35333544: Eight individuals harboring heterozygous IKZF1R183H or IKZF1R183C variants associated with GOF effects reported. The clinical phenotypes and pathophysiology associated with IKZF1R183H/C differ from those of previously reported patients with IKZF1HI, IKZF1DN, and IKZF1DD and should therefore be considered as a novel IKAROS-associated disease entity. This condition is characterized by immune dysregulation manifestations including inflammation, autoimmunity, atopy, and polyclonal PC proliferation.

Included primarily for LoF phenotype.

Treatment: IVIG and BMT.

Non-genetic confirmatory testing: immunoglobulin levels
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2000 IKBKB Zornitza Stark changed review comment from: Primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinaemia with relatively normal numbers of B and T cells.

Treatment: bone marrow transplant.
Sources: Expert list; to: Primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinaemia with relatively normal numbers of B and T cells.

Treatment: bone marrow transplant.

Limited evidence for mono-allelic disease.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.2000 IKBKB Zornitza Stark Marked gene: IKBKB as ready
Genomic newborn screening: BabyScreen+ v0.2000 IKBKB Zornitza Stark Gene: ikbkb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.2000 IKBKB Zornitza Stark Classified gene: IKBKB as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.2000 IKBKB Zornitza Stark Gene: ikbkb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1999 IKBKB Zornitza Stark gene: IKBKB was added
gene: IKBKB was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: IKBKB.
Mode of inheritance for gene: IKBKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IKBKB were set to Immunodeficiency 15B, MIM# 615592
Review for gene: IKBKB was set to GREEN
Added comment: Primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinaemia with relatively normal numbers of B and T cells.

Treatment: bone marrow transplant.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1998 IFNGR2 Zornitza Stark Marked gene: IFNGR2 as ready
Genomic newborn screening: BabyScreen+ v0.1998 IFNGR2 Zornitza Stark Gene: ifngr2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1998 IFNGR2 Zornitza Stark Classified gene: IFNGR2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1998 IFNGR2 Zornitza Stark Gene: ifngr2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1997 IFNGR2 Zornitza Stark gene: IFNGR2 was added
gene: IFNGR2 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: IFNGR2.
Mode of inheritance for gene: IFNGR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFNGR2 were set to Immunodeficiency 28, mycobacteriosis, MIM# 614889
Review for gene: IFNGR2 was set to AMBER
Added comment: At least 5 unrelated families reported.

Commonest trigger is BCG vaccination, which is not part of the routine schedule in Australia, therefore exclude.

Treatment: BMT; avoidance of BCG.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1996 IFNGR1 Zornitza Stark Marked gene: IFNGR1 as ready
Genomic newborn screening: BabyScreen+ v0.1996 IFNGR1 Zornitza Stark Gene: ifngr1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1996 IFNGR1 Zornitza Stark Classified gene: IFNGR1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1996 IFNGR1 Zornitza Stark Gene: ifngr1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1995 IFNGR1 Zornitza Stark Tag treatable tag was added to gene: IFNGR1.
Tag immunological tag was added to gene: IFNGR1.
Genomic newborn screening: BabyScreen+ v0.1995 IFNGR1 Zornitza Stark gene: IFNGR1 was added
gene: IFNGR1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: IFNGR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IFNGR1 were set to Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950; Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978
Review for gene: IFNGR1 was set to AMBER
Added comment: Variable age of onset. Most common precipitant is BCG vaccination, which is not part of the routine schedule in Australia, therefore exclude.

Treatment: BMT; avoidance of BCG.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1994 IFITM5 Zornitza Stark Marked gene: IFITM5 as ready
Genomic newborn screening: BabyScreen+ v0.1994 IFITM5 Zornitza Stark Gene: ifitm5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1994 IFITM5 Zornitza Stark Classified gene: IFITM5 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1994 IFITM5 Zornitza Stark Gene: ifitm5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1993 IFITM5 Zornitza Stark gene: IFITM5 was added
gene: IFITM5 was added to Baby Screen+ newborn screening. Sources: Expert list
5'UTR, treatable, skeletal tags were added to gene: IFITM5.
Mode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IFITM5 were set to 22863190; 22863195; 32383316; 24519609
Phenotypes for gene: IFITM5 were set to Osteogenesis imperfecta, type V MIM#610967
Review for gene: IFITM5 was set to GREEN
Added comment: A recurrent c.-14C>T variant has been reported in many patients with type V OI. It introduces an alternative in-frame start codon upstream that is stronger than the reference start codon in transfected HEK cells (PMIDs: 22863190, 22863195). However, the effect of mutant protein (5 amino acids longer) remains unknown but neomorphic mechanism is a widely accepted hypothesis (PMIDs: 25251575, 32383316).

Variable severity, including within families. However, severe perinatal presentations reported.

Treatment: bisphosphanates.

Non-genetic confirmatory testing: skeletal survey.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1992 ICOS Zornitza Stark Marked gene: ICOS as ready
Genomic newborn screening: BabyScreen+ v0.1992 ICOS Zornitza Stark Gene: icos has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1992 ICOS Zornitza Stark Classified gene: ICOS as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1992 ICOS Zornitza Stark Gene: icos has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1991 ICOS Zornitza Stark gene: ICOS was added
gene: ICOS was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: ICOS.
Mode of inheritance for gene: ICOS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ICOS were set to Immunodeficiency, common variable, 1 MIM# 607594
Review for gene: ICOS was set to GREEN
Added comment: 15 affected individuals from 8 unrelated families reported with ICOS variants and displayed immunodeficiency, common variable, 1 phenotype; three mouse models.

Homozygous and compound heterozygous deletion and missense variants, with the most frequent variant being a 442 nucleotide deletion.

Patients typically presented with recurrent bacterial respiratory & gastrointestinal infections and low IgG/IgA.

Congenital onset.

Treatment: replacement immunoglobulin treatment, bone marrow transplant.

Non-genetic confirmatory testing: immunoglobulin levels.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1990 IARS Zornitza Stark Marked gene: IARS as ready
Genomic newborn screening: BabyScreen+ v0.1990 IARS Zornitza Stark Gene: iars has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1990 IARS Zornitza Stark Classified gene: IARS as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1990 IARS Zornitza Stark Gene: iars has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1989 IARS Zornitza Stark Tag treatable tag was added to gene: IARS.
Tag metabolic tag was added to gene: IARS.
Genomic newborn screening: BabyScreen+ v0.1989 IARS Zornitza Stark gene: IARS was added
gene: IARS was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS were set to 27426735; 34194004
Phenotypes for gene: IARS were set to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Review for gene: IARS was set to AMBER
Added comment: Established gene-disease association.

Congenital, multi-system metabolic disorder.

N=1 study of Isoleucine supplementation and protein fortification (2.5mg/kg/day, during illness 3.5 g/kg/day) with some clinical improvement.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1988 TNFRSF1A Zornitza Stark Marked gene: TNFRSF1A as ready
Genomic newborn screening: BabyScreen+ v0.1988 TNFRSF1A Zornitza Stark Gene: tnfrsf1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1988 TNFRSF1A Zornitza Stark Classified gene: TNFRSF1A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1988 TNFRSF1A Zornitza Stark Gene: tnfrsf1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1987 TOP2B Zornitza Stark Marked gene: TOP2B as ready
Genomic newborn screening: BabyScreen+ v0.1987 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1987 TOP2B Zornitza Stark Classified gene: TOP2B as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1987 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1986 TOP2B Zornitza Stark reviewed gene: TOP2B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MIM#609296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1986 TPK1 Zornitza Stark Marked gene: TPK1 as ready
Genomic newborn screening: BabyScreen+ v0.1986 TPK1 Zornitza Stark Gene: tpk1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1986 TPK1 Zornitza Stark Classified gene: TPK1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1986 TPK1 Zornitza Stark Gene: tpk1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1985 TPK1 Zornitza Stark Tag treatable tag was added to gene: TPK1.
Tag metabolic tag was added to gene: TPK1.
Genomic newborn screening: BabyScreen+ v0.1985 TRNT1 Zornitza Stark Marked gene: TRNT1 as ready
Genomic newborn screening: BabyScreen+ v0.1985 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1985 TRNT1 Zornitza Stark Classified gene: TRNT1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1985 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1984 TRNT1 Zornitza Stark Tag treatable tag was added to gene: TRNT1.
Tag immunological tag was added to gene: TRNT1.
Genomic newborn screening: BabyScreen+ v0.1984 TRNT1 Zornitza Stark reviewed gene: TRNT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay MIM#616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1984 TRPM6 Zornitza Stark Marked gene: TRPM6 as ready
Genomic newborn screening: BabyScreen+ v0.1984 TRPM6 Zornitza Stark Gene: trpm6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1984 TRPM6 Zornitza Stark Classified gene: TRPM6 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1984 TRPM6 Zornitza Stark Gene: trpm6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1983 TRPM6 Zornitza Stark Tag treatable tag was added to gene: TRPM6.
Tag endocrine tag was added to gene: TRPM6.
Genomic newborn screening: BabyScreen+ v0.1983 UCP2 Zornitza Stark Marked gene: UCP2 as ready
Genomic newborn screening: BabyScreen+ v0.1983 UCP2 Zornitza Stark Gene: ucp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1983 UCP2 Zornitza Stark Publications for gene: UCP2 were set to
Genomic newborn screening: BabyScreen+ v0.1982 TNFRSF1A Lilian Rudd gene: TNFRSF1A was added
gene: TNFRSF1A was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TNFRSF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNFRSF1A were set to PMID: 11175303, PMID: 32066461, PMID: 29773275, PMID: 32831641
Phenotypes for gene: TNFRSF1A were set to Periodic fever, familial MIM#142680
Penetrance for gene: TNFRSF1A were set to Incomplete
Review for gene: TNFRSF1A was set to RED
Added comment: Strong gene disease association
Childhood onset but age not consistently under 5 and cases of adult onset
reports of variable penetrance
Rx
NSAIDs, corticosteroids, Etanercept , anakinra, canakinumab, tocilizumab

because there is no non-molecular confirmatory test I think should be red for variability of age of onset and severity of symptoms.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1982 TOP2B Lilian Rudd gene: TOP2B was added
gene: TOP2B was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOP2B were set to PMID: 31409799, PMID: 35063500, PMID: 32128574, PMID: 33459963
Phenotypes for gene: TOP2B were set to B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MIM#609296
Review for gene: TOP2B was set to AMBER
Added comment: congenital onset
humoral immunodeficiency with undetectable B cells, distal limb anomalies, dysmorphic facial features, and urogenital malformations

Treatment immunoglobulin (only partially treats phenotype) no literature for evidence around immunoglobulin treatment.

Suggest RED but maybe discuss with immunologist?
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1982 TPK1 Lilian Rudd gene: TPK1 was added
gene: TPK1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPK1 were set to PMID: 33086386, 32679198, 22152682, PMID: 33231275
Phenotypes for gene: TPK1 were set to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) MIM#614458
Review for gene: TPK1 was set to GREEN
Added comment: Strong gene disease association
Variable age of onset but always under 5years

Thiamine metabolism dysfunction syndrome-5 (THMD5) is an autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits (Mayr et al., 2011).

Biotin and thiamine therapy - newer evidence (2021) suggests early thiamine therapy may prevent any neurologic deficits.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1982 TRNT1 Lilian Rudd gene: TRNT1 was added
gene: TRNT1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRNT1 were set to PMID: 25193871, PMID: 23553769, PMID: 33936027, PMID: 26494905
Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay MIM#616084
Review for gene: TRNT1 was set to AMBER
Added comment: Onset infancy
Strong gene disease association

Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndromic disorder characterized by onset of severe sideroblastic anemia in the neonatal period or infancy. Affected individuals show delayed psychomotor development with variable neurodegeneration. Recurrent periodic fevers without an infectious etiology occur throughout infancy and childhood; immunologic work-up shows B-cell lymphopenia and hypogammaglobulinemia. Other more variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy. Death in the first decade may occur (summary by Wiseman et al., 2013).

Bone marrow transplant (hematopoietic stem cell transplantation (HSCT)), replacement immunoglobulin treatment

Allelic disease: Retinitis pigmentosa and erythrocytic microcytosis MIM#616959. Also AR.
DeLuca et al. (2016) concluded that hypomorphic TRNT1 mutations can cause a recessive disease that is almost entirely limited to the retina - this has teenage onset and is not treatable. can we exclude these variants?
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1982 TRPM6 Lilian Rudd gene: TRPM6 was added
gene: TRPM6 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPM6 were set to PMID: 35903165, PMID: 18818955
Phenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal MIM#602014
Review for gene: TRPM6 was set to GREEN
Added comment: Hypomagnaesemia and hypocalcaemia
Hypocalcemia is a secondary consequence of parathyroid failure and parathyroid hormone resistance as a result of severe magnesium deficiency. The disease typically manifests during the first months of life with generalized convulsions or signs of increased neuromuscular excitability, such as muscle spasms or tetany. Untreated, the disease may be fatal or lead to severe neurologic damage. Treatment includes immediate administration of magnesium, usually intravenously, followed by life-long high-dose oral magnesium (review by Knoers, 2009).
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1982 UCP2 Lilian Rudd reviewed gene: UCP2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 28681398, PMID: 27967291; Phenotypes: UCP2 associated hyperinsulinism; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.1982 UNG Zornitza Stark Marked gene: UNG as ready
Genomic newborn screening: BabyScreen+ v0.1982 UNG Zornitza Stark Gene: ung has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1982 UNG Zornitza Stark Classified gene: UNG as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1982 UNG Zornitza Stark Gene: ung has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1981 UNG Zornitza Stark Tag treatable tag was added to gene: UNG.
Tag immunological tag was added to gene: UNG.
Genomic newborn screening: BabyScreen+ v0.1981 UNG Zornitza Stark reviewed gene: UNG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency with hyper IgM, type 5 MIM#608106; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1981 UMPS Zornitza Stark Marked gene: UMPS as ready
Genomic newborn screening: BabyScreen+ v0.1981 UMPS Zornitza Stark Gene: umps has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1981 UMPS Zornitza Stark Classified gene: UMPS as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1981 UMPS Zornitza Stark Gene: umps has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1980 UMPS Zornitza Stark Tag for review tag was added to gene: UMPS.
Tag treatable tag was added to gene: UMPS.
Tag metabolic tag was added to gene: UMPS.
Genomic newborn screening: BabyScreen+ v0.1980 NLGN4X Zornitza Stark Marked gene: NLGN4X as ready
Genomic newborn screening: BabyScreen+ v0.1980 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1980 NLGN4X Zornitza Stark Phenotypes for gene: NLGN4X were changed from Autism to Intellectual developmental disorder, X-linked MIM#300495
Genomic newborn screening: BabyScreen+ v0.1979 NLGN4X Zornitza Stark Mode of inheritance for gene: NLGN4X was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1978 NLGN4X Zornitza Stark reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked MIM#300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1978 HSD11B2 Zornitza Stark Marked gene: HSD11B2 as ready
Genomic newborn screening: BabyScreen+ v0.1978 HSD11B2 Zornitza Stark Gene: hsd11b2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1978 HSD11B2 Zornitza Stark Classified gene: HSD11B2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1978 HSD11B2 Zornitza Stark Gene: hsd11b2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1977 HSD11B2 Zornitza Stark gene: HSD11B2 was added
gene: HSD11B2 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: HSD11B2.
Mode of inheritance for gene: HSD11B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD11B2 were set to Apparent mineralocorticoid excess, MIM# 218030; MONDO:0009025
Review for gene: HSD11B2 was set to GREEN
Added comment: Apparent mineralocorticoid excess (AME) is an autosomal recessive form of low-renin hypertension associated with low aldosterone, metabolic alkalosis, hypernatremia, and hypokalemia. The disorder is due to a congenital defect in 11-beta-hydroxysteroid dehydrogenase type II (HSD11B2) activity, resulting in decreased conversion of biologically active cortisol to inactive cortisone; this defect allows cortisol to act as a ligand for the mineralocorticoid receptor, resulting in sodium retention and volume expansion. There is a favorable therapeutic response to spironolactone. More than 10 unrelated families reported.

Onset is usually in infancy or early childhood.

Non-genetic confirmatory testing: aldosterone, renin, potassium levels
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1976 HOGA1 Zornitza Stark Marked gene: HOGA1 as ready
Genomic newborn screening: BabyScreen+ v0.1976 HOGA1 Zornitza Stark Gene: hoga1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1976 HOGA1 Zornitza Stark Classified gene: HOGA1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1976 HOGA1 Zornitza Stark Gene: hoga1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1975 HOGA1 Zornitza Stark gene: HOGA1 was added
gene: HOGA1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, metabolic tags were added to gene: HOGA1.
Mode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HOGA1 were set to 20797690; 21896830; 22391140
Phenotypes for gene: HOGA1 were set to Hyperoxaluria, primary, type III MIM#613616
Review for gene: HOGA1 was set to GREEN
Added comment: Well-established association with primary hyperoxaluria type III. c.700+5G>T is a recurrent pathogenic variant in European populations (possibly founder) and has high frequency in gnomad (0.2-0.3%).

Onset in infancy, progressive multi-system disorder.

Treatment: pyridoxine, drinking large volumes, alkalinzation of urine, pyrophosphate-containing solutions, liver-kidney transplant

Non-genetic confirmatory testing: urinary oxalate
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1974 UMPS Lilian Rudd changed review comment from: megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by Webster et al., 2001).

Treat uridine
Very rare only 20 cases but treatable.
Sources: Expert list; to: megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by Webster et al., 2001).

Better check with John who wrote the paper!! PMID: 25030255

Treat uridine
Very rare only 20 cases but treatable.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1974 UMPS Lilian Rudd gene: UMPS was added
gene: UMPS was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UMPS were set to PMID: 9042911, PMID: 28205048, PMID: 25757096, PMID: 33489760
Phenotypes for gene: UMPS were set to Orotic aciduria MIM#258900
Review for gene: UMPS was set to GREEN
Added comment: megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by Webster et al., 2001).

Treat uridine
Very rare only 20 cases but treatable.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1974 UNG Lilian Rudd gene: UNG was added
gene: UNG was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: UNG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNG were set to PubMed: 12958596, PMID: 15967827, PMID: 19202054, PMID: 16860315
Phenotypes for gene: UNG were set to Immunodeficiency with hyper IgM, type 5 MIM#608106
Review for gene: UNG was set to RED
Added comment: normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations.
susceptibility to bacterial infections, lymphoid hyperplasia
only 3 patients reported in a single paper ?
Rx immunoglobulin replacement according to Rx genes but I can't find actual papers - i don't think there is enough evidence regarding age of onset or treatability.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1974 HELLS Zornitza Stark Marked gene: HELLS as ready
Genomic newborn screening: BabyScreen+ v0.1974 HELLS Zornitza Stark Gene: hells has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1974 HELLS Zornitza Stark Classified gene: HELLS as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1974 HELLS Zornitza Stark Gene: hells has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1973 HELLS Zornitza Stark Tag treatable tag was added to gene: HELLS.
Tag immunological tag was added to gene: HELLS.
Genomic newborn screening: BabyScreen+ v0.1973 HELLS Zornitza Stark gene: HELLS was added
gene: HELLS was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: HELLS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HELLS were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911
Review for gene: HELLS was set to GREEN
Added comment: Congenital onset.

Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable. At least 4 unrelated families reported.

Treatment: bone marrow transplant.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1972 USP18 Zornitza Stark Marked gene: USP18 as ready
Genomic newborn screening: BabyScreen+ v0.1972 USP18 Zornitza Stark Gene: usp18 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1972 USP18 Zornitza Stark Classified gene: USP18 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1972 USP18 Zornitza Stark Gene: usp18 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1971 USP18 Zornitza Stark reviewed gene: USP18: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudo-TORCH syndrome 2 MIM#617397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1971 VKORC1 Zornitza Stark Marked gene: VKORC1 as ready
Genomic newborn screening: BabyScreen+ v0.1971 VKORC1 Zornitza Stark Gene: vkorc1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1971 VKORC1 Zornitza Stark Mode of inheritance for gene: VKORC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1970 VKORC1 Zornitza Stark Classified gene: VKORC1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1970 VKORC1 Zornitza Stark Gene: vkorc1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1969 VKORC1 Zornitza Stark Tag treatable tag was added to gene: VKORC1.
Tag haematological tag was added to gene: VKORC1.
Genomic newborn screening: BabyScreen+ v0.1969 VKORC1 Zornitza Stark reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 2 MIM#607473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1969 WDR1 Zornitza Stark Marked gene: WDR1 as ready
Genomic newborn screening: BabyScreen+ v0.1969 WDR1 Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1969 WDR1 Zornitza Stark Classified gene: WDR1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1969 WDR1 Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1968 WDR1 Zornitza Stark Tag treatable tag was added to gene: WDR1.
Tag immunological tag was added to gene: WDR1.
Tag haematological tag was added to gene: WDR1.
Genomic newborn screening: BabyScreen+ v0.1968 GPIHBP1 Zornitza Stark Marked gene: GPIHBP1 as ready
Genomic newborn screening: BabyScreen+ v0.1968 GPIHBP1 Zornitza Stark Gene: gpihbp1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1968 GPIHBP1 Zornitza Stark Classified gene: GPIHBP1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1968 GPIHBP1 Zornitza Stark Gene: gpihbp1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1967 GPIHBP1 Zornitza Stark Tag treatable tag was added to gene: GPIHBP1.
Tag metabolic tag was added to gene: GPIHBP1.
Genomic newborn screening: BabyScreen+ v0.1967 GPIHBP1 Zornitza Stark gene: GPIHBP1 was added
gene: GPIHBP1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPIHBP1 were set to 31390500
Phenotypes for gene: GPIHBP1 were set to Hyperlipoproteinemia, type 1D MIM#615947; familial chylomicronemia syndrome
Review for gene: GPIHBP1 was set to GREEN
Added comment: Well-established gene-disease association.

Usually presents in childhood with episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly.

Approximately 25% of affected children develop symptoms before age one year and the majority develop symptoms before age ten years; however, some individuals present for the first time during pregnancy.

Treatment: volanesorsen, dietary fat restriction

Non-genetic confirmatory testing: triglyceride level
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1966 GHRHR Zornitza Stark Marked gene: GHRHR as ready
Genomic newborn screening: BabyScreen+ v0.1966 GHRHR Zornitza Stark Gene: ghrhr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1966 GHRHR Zornitza Stark Classified gene: GHRHR as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1966 GHRHR Zornitza Stark Gene: ghrhr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1965 GHRHR Zornitza Stark Tag treatable tag was added to gene: GHRHR.
Tag endocrine tag was added to gene: GHRHR.
Genomic newborn screening: BabyScreen+ v0.1965 GHRHR Zornitza Stark gene: GHRHR was added
gene: GHRHR was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: GHRHR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GHRHR were set to 8528260; 10084571; 11232012
Phenotypes for gene: GHRHR were set to Growth hormone deficiency, isolated, type IV, MIM# 618157
Review for gene: GHRHR was set to GREEN
Added comment: IGHD type IV is characterized by early and severe growth failure (height SDS up to -7.4), a blunted growth hormone (GH) response to different provocation tests and low insulin-like growth factor-I and IGF-binding protein-3 concentrations, and a good response to growth hormone treatment. At least three unrelated families reported.

Non-genetic confirmatory testing: growth hormone stimulation test
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1964 GHR Zornitza Stark Marked gene: GHR as ready
Genomic newborn screening: BabyScreen+ v0.1964 GHR Zornitza Stark Gene: ghr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1964 GHR Zornitza Stark Classified gene: GHR as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1964 GHR Zornitza Stark Gene: ghr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1963 GHR Zornitza Stark Tag treatable tag was added to gene: GHR.
Tag endocrine tag was added to gene: GHR.
Genomic newborn screening: BabyScreen+ v0.1963 GHR Zornitza Stark gene: GHR was added
gene: GHR was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: GHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GHR were set to Growth hormone insensitivity, partial, MIM# 604271; Laron dwarfism, MIM# 262500
Review for gene: GHR was set to GREEN
Added comment: Well established gene-disease association.

Congenital onset.

Treatment: growth hormone.

Non-genetic confirmatory testing: growth hormone stimulation test
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1962 GH1 Zornitza Stark Marked gene: GH1 as ready
Genomic newborn screening: BabyScreen+ v0.1962 GH1 Zornitza Stark Gene: gh1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1962 GH1 Zornitza Stark Classified gene: GH1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1962 GH1 Zornitza Stark Gene: gh1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1961 GH1 Zornitza Stark Tag treatable tag was added to gene: GH1.
Tag endocrine tag was added to gene: GH1.
Genomic newborn screening: BabyScreen+ v0.1961 GH1 Zornitza Stark gene: GH1 was added
gene: GH1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: GH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GH1 were set to Growth hormone deficiency, isolated, type IA, MIM# 262400; Growth hormone deficiency, isolated, type II, MIM# 173100; Kowarski syndrome, MIM# 262650
Review for gene: GH1 was set to GREEN
Added comment: Well established gene-disease association. Congenital onset.

Treatment: growth hormone.

Non-genetic confirmatory test: growth hormone stimulation test
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1960 GFI1 Zornitza Stark Marked gene: GFI1 as ready
Genomic newborn screening: BabyScreen+ v0.1960 GFI1 Zornitza Stark Gene: gfi1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1960 GFI1 Zornitza Stark Classified gene: GFI1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1960 GFI1 Zornitza Stark Gene: gfi1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1959 GFI1 Zornitza Stark gene: GFI1 was added
gene: GFI1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: GFI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GFI1 were set to 12778173; 20560965; 11810106; 22684987
Phenotypes for gene: GFI1 were set to Neutropenia, severe congenital 2, autosomal dominant, MIM# 613107
Review for gene: GFI1 was set to GREEN
Added comment: At least three unrelated families reported, and supportive functional data.

Severe congenital immunodeficiency.

Treatment: granulocyte colony-stimulating factor (G-CSF), Bone marrow transplant

Non-genetic confirmatory testing: FBE.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1958 USP18 Lilian Rudd gene: USP18 was added
gene: USP18 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP18 were set to PMID: 31940699, 27325888, 12833411
Phenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2 MIM#617397
Review for gene: USP18 was set to AMBER
Added comment: antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent. The disorder results from inappropriate activation of the interferon (IFN) immunologic pathway

Treatment Ruxolitinib (single patient only) - is a single patient with successful treatment enough?
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1958 VKORC1 Lilian Rudd gene: VKORC1 was added
gene: VKORC1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: VKORC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: VKORC1 were set to PMID:14765194, PMID: 26287237
Phenotypes for gene: VKORC1 were set to Vitamin K-dependent clotting factors, combined deficiency of, 2 MIM#607473
Review for gene: VKORC1 was set to AMBER
Added comment: Risk of intracranial haemmorhage in first weeks of life
Treatable with vitamin K
See below summary - feels like should be green for that homozygous mutation but not sure how to manage the gene overall? not report other variants?
Monoallelic - warfarin resistance

There is only one mutation known to result in the VKCFD2 phenotype. VKORC1:p.Arg98Trp causes diminished vitamin K epoxide reductase (VKOR) activity compared to that of the wild-type enzyme [15]. VKCFD2 patients exhibit severely diminished activities for the VKD coagulation factors and suffer spontaneous or surgery/injury induced bleeding episodes [16,17]. In addition to this haemorrhagic phenotype, abnormalities in epiphyseal growth have been reported in one case [18]. This phenotype is very rare. Worldwide, there are only four unrelated families known to be affected with VKCFD2 [16,17,18].
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1958 WDR1 Lilian Rudd gene: WDR1 was added
gene: WDR1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: WDR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR1 were set to PMID: 32960541, 27994071, 27557945
Phenotypes for gene: WDR1 were set to Periodic fever, immunodeficiency, and thrombocytopenia syndrome MIM#150550
Review for gene: WDR1 was set to GREEN
Added comment: Strong gene disease association
Phenotype is early onset immunodeficiency with infections ++ and severe stomatitis
Treatable with bone marrow transplant.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1958 WDR72 Zornitza Stark Marked gene: WDR72 as ready
Genomic newborn screening: BabyScreen+ v0.1958 WDR72 Zornitza Stark Gene: wdr72 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1958 WDR72 Zornitza Stark Phenotypes for gene: WDR72 were changed from Distal renal tubular acidosis to Amelogenesis imperfecta, type IIA3, MIM# 613211; Distal RTA MONDO:0015827
Genomic newborn screening: BabyScreen+ v0.1957 WDR72 Zornitza Stark Classified gene: WDR72 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1957 WDR72 Zornitza Stark Gene: wdr72 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1956 WDR72 Zornitza Stark Tag treatable tag was added to gene: WDR72.
Tag renal tag was added to gene: WDR72.
Genomic newborn screening: BabyScreen+ v0.1956 WDR72 Zornitza Stark reviewed gene: WDR72: Rating: GREEN; Mode of pathogenicity: None; Publications: 30028003; Phenotypes: Amelogenesis imperfecta, type IIA3, MIM# 613211, Distal RTA MONDO:0015827; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1956 WIPF1 Zornitza Stark Marked gene: WIPF1 as ready
Genomic newborn screening: BabyScreen+ v0.1956 WIPF1 Zornitza Stark Gene: wipf1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1956 WIPF1 Zornitza Stark Classified gene: WIPF1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1956 WIPF1 Zornitza Stark Gene: wipf1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1955 WIPF1 Zornitza Stark Tag treatable tag was added to gene: WIPF1.
Tag immunological tag was added to gene: WIPF1.
Tag haematological tag was added to gene: WIPF1.
Genomic newborn screening: BabyScreen+ v0.1955 WNK4 Zornitza Stark Marked gene: WNK4 as ready
Genomic newborn screening: BabyScreen+ v0.1955 WNK4 Zornitza Stark Gene: wnk4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1955 WNK4 Zornitza Stark Classified gene: WNK4 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1955 WNK4 Zornitza Stark Gene: wnk4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1954 WNK4 Zornitza Stark Tag treatable tag was added to gene: WNK4.
Tag endocrine tag was added to gene: WNK4.
Genomic newborn screening: BabyScreen+ v0.1954 ZBTB24 Zornitza Stark Marked gene: ZBTB24 as ready
Genomic newborn screening: BabyScreen+ v0.1954 ZBTB24 Zornitza Stark Gene: zbtb24 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1954 ZBTB24 Zornitza Stark Classified gene: ZBTB24 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1954 ZBTB24 Zornitza Stark Gene: zbtb24 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1953 ZBTB24 Zornitza Stark Tag treatable tag was added to gene: ZBTB24.
Tag immunological tag was added to gene: ZBTB24.
Genomic newborn screening: BabyScreen+ v0.1953 ZBTB24 Zornitza Stark reviewed gene: ZBTB24: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM#614069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1953 ZNF143 Zornitza Stark Marked gene: ZNF143 as ready
Genomic newborn screening: BabyScreen+ v0.1953 ZNF143 Zornitza Stark Gene: znf143 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1953 ZNF143 Zornitza Stark Classified gene: ZNF143 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1953 ZNF143 Zornitza Stark Gene: znf143 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1952 ZNF143 Zornitza Stark reviewed gene: ZNF143: Rating: RED; Mode of pathogenicity: None; Publications: 27349184; Phenotypes: Combined methylmalonic acidemia and homocystinuria, cblX like 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1952 WDR72 Lilian Rudd gene: WDR72 was added
gene: WDR72 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR72 were set to PMID: 30028003, PMID: 30779877, PMID:36836560, PMID: 33033857
Phenotypes for gene: WDR72 were set to Distal renal tubular acidosis
Review for gene: WDR72 was set to GREEN
Added comment: Amelogenesis imperecta - thickened and disoloured dental enamal with RTA
Reduced penetrance or variable expression? Some patients only have the tooth phenotype...
Presents with polyuria and growth restriction
Treat with oral alkali replacement therapy, potassium chloride
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1952 WIPF1 Lilian Rudd gene: WIPF1 was added
gene: WIPF1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: WIPF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WIPF1 were set to PMID: 27742395, PMID: 30450104, PMID: 22231303
Phenotypes for gene: WIPF1 were set to Wiskott-Aldrich syndrome 2 MIM#614493
Review for gene: WIPF1 was set to GREEN
Added comment: Infant onset
recurrent infections, thrombycytopenia and eczema
Immunology testing to correlate
Treatment/cure with bone marrow transplant
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1952 WNK4 Lilian Rudd gene: WNK4 was added
gene: WNK4 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: WNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WNK4 were set to PMID: 22073419, PMID: 31795491, PMID: 10869238,
Phenotypes for gene: WNK4 were set to Pseudohypoaldosteronism, type IIB MIM#614491
Review for gene: WNK4 was set to GREEN
Added comment: Hyperkalaemia and hypertension
Hypercalciuria
Hypocalcaemia
Decreased bone mineral density
Renal calcium stones
Treatable with thiazide diuretics
Variable age of onset from infancy to adulthood but highly effective treatment so leaning toward include.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1952 ZBTB24 Lilian Rudd gene: ZBTB24 was added
gene: ZBTB24 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB24 were set to PMID: 28128455, 21906047, 21596365, 23486536
Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM#614069
Review for gene: ZBTB24 was set to AMBER
Added comment: INfant onset
Agammaglobulinemia, facial anomalies, and mental retardation. Facial anomalies included broad, flat nasal bridge, hypertelorism, and epicanthal folds.
Treat immunoglobulin and bone marrow transplant however, this only treats the immune deficiency
Consider exclusion due to untreatable ID phenotype?
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1952 ZNF143 Lilian Rudd gene: ZNF143 was added
gene: ZNF143 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: ZNF143 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF143 were set to PMID: 20301503, PMID: 27349184
Phenotypes for gene: ZNF143 were set to Combined methylmalonic acidemia and homocystinuria, cblX like 1
Review for gene: ZNF143 was set to RED
Added comment: Not in our mendeliome
Single case
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1952 FOLR1 Zornitza Stark Marked gene: FOLR1 as ready
Genomic newborn screening: BabyScreen+ v0.1952 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1952 FOLR1 Zornitza Stark Classified gene: FOLR1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1952 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1951 FOLR1 Zornitza Stark gene: FOLR1 was added
gene: FOLR1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, metabolic tags were added to gene: FOLR1.
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOLR1 were set to 19732866; 30420205; 27743887
Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
Review for gene: FOLR1 was set to GREEN
Added comment: Folate is a neurotransmitter precursor. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function.

Treatment: folinic acid

Non-genetic confirmatory testing: cerebrospinal fluid 5-methyltetrahydrofolate level
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1950 FCHO1 Zornitza Stark Marked gene: FCHO1 as ready