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Additional findings_Paediatric v1.0 MPZL2 Gene migrated from ENSG00000149573 to ENSG00000149573 (gene set migration)
Additional findings_Paediatric v1.0 LMX1A Gene migrated from ENSG00000162761 to ENSG00000162761 (gene set migration)
Additional findings_Paediatric v1.0 OSBPL2 Gene migrated from ENSG00000130703 to ENSG00000130703 (gene set migration)
Additional findings_Paediatric v1.0 MCCC2 Gene migrated from ENSG00000131844 to ENSG00000131844 (gene set migration)
Additional findings_Paediatric v1.0 SLC41A1 Gene migrated from ENSG00000133065 to ENSG00000133065 (gene set migration)
Additional findings_Paediatric v1.0 F13B Gene migrated from ENSG00000143278 to ENSG00000143278 (gene set migration)
Additional findings_Paediatric v1.0 WNT7A Gene migrated from ENSG00000154764 to ENSG00000154764 (gene set migration)
Additional findings_Paediatric v1.0 WNT5A Gene migrated from ENSG00000114251 to ENSG00000114251 (gene set migration)
Additional findings_Paediatric v1.0 WNT3 Gene migrated from ENSG00000108379 to ENSG00000108379 (gene set migration)
Additional findings_Paediatric v1.0 WNK1 Gene migrated from ENSG00000060237 to ENSG00000060237 (gene set migration)
Additional findings_Paediatric v1.0 VAMP1 Gene migrated from ENSG00000139190 to ENSG00000139190 (gene set migration)
Additional findings_Paediatric v1.0 UQCRQ Gene migrated from ENSG00000164405 to ENSG00000164405 (gene set migration)
Additional findings_Paediatric v1.0 UQCRB Gene migrated from ENSG00000156467 to ENSG00000156467 (gene set migration)
Additional findings_Paediatric v1.0 UGT1A5 Gene migrated from ENSG00000240224 to ENSG00000288705 (gene set migration)
Additional findings_Paediatric v1.0 UGT1A4 Gene migrated from ENSG00000244474 to ENSG00000244474 (gene set migration)
Additional findings_Paediatric v1.0 UCP2 Gene migrated from ENSG00000175567 to ENSG00000175567 (gene set migration)
Additional findings_Paediatric v1.0 TRDN Gene migrated from ENSG00000186439 to ENSG00000186439 (gene set migration)
Additional findings_Paediatric v1.0 TPRN Gene migrated from ENSG00000176058 to ENSG00000176058 (gene set migration)
Additional findings_Paediatric v1.0 TNXB Gene migrated from ENSG00000168477 to ENSG00000168477 (gene set migration)
Additional findings_Paediatric v1.0 TMPO Gene migrated from ENSG00000120802 to ENSG00000120802 (gene set migration)
Additional findings_Paediatric v1.0 TMEM237 Gene migrated from ENSG00000155755 to ENSG00000155755 (gene set migration)
Additional findings_Paediatric v1.0 TMEM216 Gene migrated from ENSG00000187049 to ENSG00000187049 (gene set migration)
Additional findings_Paediatric v1.0 THBD Gene migrated from ENSG00000178726 to ENSG00000178726 (gene set migration)
Additional findings_Paediatric v1.0 TGIF1 Gene migrated from ENSG00000177426 to ENSG00000177426 (gene set migration)
Additional findings_Paediatric v1.0 TGFB3 Gene migrated from ENSG00000119699 to ENSG00000119699 (gene set migration)
Additional findings_Paediatric v1.0 TGFB1 Gene migrated from ENSG00000105329 to ENSG00000105329 (gene set migration)
Additional findings_Paediatric v1.0 TFR2 Gene migrated from ENSG00000106327 to ENSG00000106327 (gene set migration)
Additional findings_Paediatric v1.0 TARDBP Gene migrated from ENSG00000120948 to ENSG00000120948 (gene set migration)
Additional findings_Paediatric v1.0 TAB2 Gene migrated from ENSG00000055208 to ENSG00000055208 (gene set migration)
Additional findings_Paediatric v1.0 SYT14 Gene migrated from ENSG00000143469 to ENSG00000143469 (gene set migration)
Additional findings_Paediatric v1.0 SYNE4 Gene migrated from ENSG00000181392 to ENSG00000181392 (gene set migration)
Additional findings_Paediatric v1.0 SOX18 Gene migrated from ENSG00000203883 to ENSG00000203883 (gene set migration)
Additional findings_Paediatric v1.0 SOD1 Gene migrated from ENSG00000142168 to ENSG00000142168 (gene set migration)
Additional findings_Paediatric v1.0 SNAP29 Gene migrated from ENSG00000099940 to ENSG00000099940 (gene set migration)
Additional findings_Paediatric v1.0 SMO Gene migrated from ENSG00000128602 to ENSG00000128602 (gene set migration)
Additional findings_Paediatric v1.0 SMAD9 Gene migrated from ENSG00000120693 to ENSG00000120693 (gene set migration)
Additional findings_Paediatric v1.0 SLC35C1 Gene migrated from ENSG00000181830 to ENSG00000181830 (gene set migration)
Additional findings_Paediatric v1.0 SLC35A2 Gene migrated from ENSG00000102100 to ENSG00000102100 (gene set migration)
Additional findings_Paediatric v1.0 SLC35A1 Gene migrated from ENSG00000164414 to ENSG00000164414 (gene set migration)
Additional findings_Paediatric v1.0 SLC33A1 Gene migrated from ENSG00000169359 to ENSG00000169359 (gene set migration)
Additional findings_Paediatric v1.0 SLC27A5 Gene migrated from ENSG00000083807 to ENSG00000083807 (gene set migration)
Additional findings_Paediatric v1.0 SLC11A2 Gene migrated from ENSG00000110911 to ENSG00000110911 (gene set migration)
Additional findings_Paediatric v1.0 SIX5 Gene migrated from ENSG00000177045 to ENSG00000177045 (gene set migration)
Additional findings_Paediatric v1.0 SIX2 Gene migrated from ENSG00000170577 to ENSG00000170577 (gene set migration)
Additional findings_Paediatric v1.0 SHOC2 Gene migrated from ENSG00000108061 to ENSG00000108061 (gene set migration)
Additional findings_Paediatric v1.0 SERPINC1 Gene migrated from ENSG00000117601 to ENSG00000117601 (gene set migration)
Additional findings_Paediatric v1.0 SERPINB6 Gene migrated from ENSG00000124570 to ENSG00000124570 (gene set migration)
Additional findings_Paediatric v1.0 SEMA3A Gene migrated from ENSG00000075213 to ENSG00000075213 (gene set migration)
Additional findings_Paediatric v1.0 SEC63 Gene migrated from ENSG00000025796 to ENSG00000025796 (gene set migration)
Additional findings_Paediatric v1.0 SCP2 Gene migrated from ENSG00000116171 to ENSG00000116171 (gene set migration)
Additional findings_Paediatric v1.0 SCN3B Gene migrated from ENSG00000166257 to ENSG00000166257 (gene set migration)
Additional findings_Paediatric v1.0 SCN2B Gene migrated from ENSG00000149575 to ENSG00000149575 (gene set migration)
Additional findings_Paediatric v1.0 SCN1B Gene migrated from ENSG00000105711 to ENSG00000105711 (gene set migration)
Additional findings_Paediatric v1.0 SC5D Gene migrated from ENSG00000109929 to ENSG00000109929 (gene set migration)
Additional findings_Paediatric v1.0 RELN Gene migrated from ENSG00000189056 to ENSG00000189056 (gene set migration)
Additional findings_Paediatric v1.0 RANGRF Gene migrated from ENSG00000108961 to ENSG00000108961 (gene set migration)
Additional findings_Paediatric v1.0 RAD51B Gene migrated from ENSG00000182185 to ENSG00000182185 (gene set migration)
Additional findings_Paediatric v1.0 PRPS1 Gene migrated from ENSG00000147224 to ENSG00000147224 (gene set migration)
Additional findings_Paediatric v1.0 PRODH Gene migrated from ENSG00000100033 to ENSG00000100033 (gene set migration)
Additional findings_Paediatric v1.0 PRKCSH Gene migrated from ENSG00000130175 to ENSG00000130175 (gene set migration)
Additional findings_Paediatric v1.0 POMC Gene migrated from ENSG00000115138 to ENSG00000115138 (gene set migration)
Additional findings_Paediatric v1.0 PODXL Gene migrated from ENSG00000128567 to ENSG00000128567 (gene set migration)
Additional findings_Paediatric v1.0 PNPLA1 Gene migrated from ENSG00000180316 to ENSG00000180316 (gene set migration)
Additional findings_Paediatric v1.0 PMS2 Gene migrated from ENSG00000122512 to ENSG00000122512 (gene set migration)
Additional findings_Paediatric v1.0 PLOD2 Gene migrated from ENSG00000152952 to ENSG00000152952 (gene set migration)
Additional findings_Paediatric v1.0 PEX11B Gene migrated from ENSG00000131779 to ENSG00000131779 (gene set migration)
Additional findings_Paediatric v1.0 PDSS2 Gene migrated from ENSG00000164494 to ENSG00000164494 (gene set migration)
Additional findings_Paediatric v1.0 PDSS1 Gene migrated from ENSG00000148459 to ENSG00000148459 (gene set migration)
Additional findings_Paediatric v1.0 PRRX1 Gene migrated from ENSG00000116132 to ENSG00000116132 (gene set migration)
Additional findings_Paediatric v1.0 P2RX2 Gene migrated from ENSG00000187848 to ENSG00000187848 (gene set migration)
Additional findings_Paediatric v1.0 OTUD4 Gene migrated from ENSG00000164164 to ENSG00000164164 (gene set migration)
Additional findings_Paediatric v1.0 OTOG Gene migrated from ENSG00000188162 to ENSG00000188162 (gene set migration)
Additional findings_Paediatric v1.0 ORC6 Gene migrated from ENSG00000091651 to ENSG00000091651 (gene set migration)
Additional findings_Paediatric v1.0 ORC4 Gene migrated from ENSG00000115947 to ENSG00000115947 (gene set migration)
Additional findings_Paediatric v1.0 NRG1 Gene migrated from ENSG00000157168 to ENSG00000157168 (gene set migration)
Additional findings_Paediatric v1.0 NR1H4 Gene migrated from ENSG00000012504 to ENSG00000012504 (gene set migration)
Additional findings_Paediatric v1.0 NPPA Gene migrated from ENSG00000175206 to ENSG00000175206 (gene set migration)
Additional findings_Paediatric v1.0 NOTCH1 Gene migrated from ENSG00000148400 to ENSG00000148400 (gene set migration)
Additional findings_Paediatric v1.0 NOP10 Gene migrated from ENSG00000182117 to ENSG00000182117 (gene set migration)
Additional findings_Paediatric v1.0 PEX14 Gene migrated from ENSG00000142655 to ENSG00000142655 (gene set migration)
Additional findings_Paediatric v1.0 NEDD4L Gene migrated from ENSG00000049759 to ENSG00000049759 (gene set migration)
Additional findings_Paediatric v1.0 NEBL Gene migrated from ENSG00000078114 to ENSG00000078114 (gene set migration)
Additional findings_Paediatric v1.0 MYOZ2 Gene migrated from ENSG00000172399 to ENSG00000172399 (gene set migration)
Additional findings_Paediatric v1.0 MYOT Gene migrated from ENSG00000120729 to ENSG00000120729 (gene set migration)
Additional findings_Paediatric v1.0 MYOM1 Gene migrated from ENSG00000101605 to ENSG00000101605 (gene set migration)
Additional findings_Paediatric v1.0 MYO5A Gene migrated from ENSG00000197535 to ENSG00000197535 (gene set migration)
Additional findings_Paediatric v1.0 MYO1F Gene migrated from ENSG00000142347 to ENSG00000142347 (gene set migration)
Additional findings_Paediatric v1.0 MYO1E Gene migrated from ENSG00000157483 to ENSG00000157483 (gene set migration)
Additional findings_Paediatric v1.0 MUC5B Gene migrated from ENSG00000117983 to ENSG00000117983 (gene set migration)
Additional findings_Paediatric v1.0 MTO1 Gene migrated from ENSG00000135297 to ENSG00000135297 (gene set migration)
Additional findings_Paediatric v1.0 MT-ND6 Gene migrated from ENSG00000198695 to ENSG00000198695 (gene set migration)
Additional findings_Paediatric v1.0 MT-ND4 Gene migrated from ENSG00000198886 to ENSG00000198886 (gene set migration)
Additional findings_Paediatric v1.0 MT-ND1 Gene migrated from ENSG00000198888 to ENSG00000198888 (gene set migration)
Additional findings_Paediatric v1.0 MIB1 Gene migrated from ENSG00000101752 to ENSG00000101752 (gene set migration)
Additional findings_Paediatric v1.0 MESP2 Gene migrated from ENSG00000188095 to ENSG00000188095 (gene set migration)
Additional findings_Paediatric v1.0 MED20 Gene migrated from ENSG00000124641 to ENSG00000124641 (gene set migration)
Additional findings_Paediatric v1.0 MAPK10 Gene migrated from ENSG00000109339 to ENSG00000109339 (gene set migration)
Additional findings_Paediatric v1.0 LYZ Gene migrated from ENSG00000090382 to ENSG00000090382 (gene set migration)
Additional findings_Paediatric v1.0 LUM Gene migrated from ENSG00000139329 to ENSG00000139329 (gene set migration)
Additional findings_Paediatric v1.0 LRRK2 Gene migrated from ENSG00000188906 to ENSG00000188906 (gene set migration)
Additional findings_Paediatric v1.0 LPP Gene migrated from ENSG00000145012 to ENSG00000145012 (gene set migration)
Additional findings_Paediatric v1.0 LPIN2 Gene migrated from ENSG00000101577 to ENSG00000101577 (gene set migration)
Additional findings_Paediatric v1.0 KDM5B Gene migrated from ENSG00000117139 to ENSG00000117139 (gene set migration)
Additional findings_Paediatric v1.0 KCNQ3 Gene migrated from ENSG00000184156 to ENSG00000184156 (gene set migration)
Additional findings_Paediatric v1.0 KCNQ2 Gene migrated from ENSG00000075043 to ENSG00000075043 (gene set migration)
Additional findings_Paediatric v1.0 KCNQ1OT1 Gene migrated from ENSG00000269821 to ENSG00000269821 (gene set migration)
Additional findings_Paediatric v1.0 KCNJ8 Gene migrated from ENSG00000121361 to ENSG00000121361 (gene set migration)
Additional findings_Paediatric v1.0 KCNJ5 Gene migrated from ENSG00000120457 to ENSG00000120457 (gene set migration)
Additional findings_Paediatric v1.0 JPH2 Gene migrated from ENSG00000149596 to ENSG00000149596 (gene set migration)
Additional findings_Paediatric v1.0 ITGA7 Gene migrated from ENSG00000135424 to ENSG00000135424 (gene set migration)
Additional findings_Paediatric v1.0 IFT43 Gene migrated from ENSG00000119650 to ENSG00000119650 (gene set migration)
Additional findings_Paediatric v1.0 IFT122 Gene migrated from ENSG00000163913 to ENSG00000163913 (gene set migration)
Additional findings_Paediatric v1.0 HYLS1 Gene migrated from ENSG00000198331 to ENSG00000198331 (gene set migration)
Additional findings_Paediatric v1.0 HYDIN Gene migrated from ENSG00000157423 to ENSG00000157423 (gene set migration)
Additional findings_Paediatric v1.0 HPS6 Gene migrated from ENSG00000166189 to ENSG00000166189 (gene set migration)
Additional findings_Paediatric v1.0 HPD Gene migrated from ENSG00000158104 to ENSG00000158104 (gene set migration)
Additional findings_Paediatric v1.0 HMBS Gene migrated from ENSG00000256269 to ENSG00000256269 (gene set migration)
Additional findings_Paediatric v1.0 HK1 Gene migrated from ENSG00000156515 to ENSG00000156515 (gene set migration)
Additional findings_Paediatric v1.0 HIBCH Gene migrated from ENSG00000198130 to ENSG00000198130 (gene set migration)
Additional findings_Paediatric v1.0 HJV Gene symbol changed from HFE2 to HJV during gene set migration (ENSG00000168509 -> ENSG00000168509)
Additional findings_Paediatric v1.0 HFE Gene migrated from ENSG00000010704 to ENSG00000010704 (gene set migration)
Additional findings_Paediatric v1.0 HARS1 Gene symbol changed from HARS to HARS1 during gene set migration (ENSG00000170445 -> ENSG00000170445)
Additional findings_Paediatric v1.0 HAMP Gene migrated from ENSG00000105697 to ENSG00000105697 (gene set migration)
Additional findings_Paediatric v1.0 GYG1 Gene migrated from ENSG00000163754 to ENSG00000163754 (gene set migration)
Additional findings_Paediatric v1.0 GPHN Gene migrated from ENSG00000171723 to ENSG00000171723 (gene set migration)
Additional findings_Paediatric v1.0 GPC6 Gene migrated from ENSG00000183098 to ENSG00000183098 (gene set migration)
Additional findings_Paediatric v1.0 GPC4 Gene migrated from ENSG00000076716 to ENSG00000076716 (gene set migration)
Additional findings_Paediatric v1.0 GMPPA Gene migrated from ENSG00000144591 to ENSG00000144591 (gene set migration)
Additional findings_Paediatric v1.0 GLUL Gene migrated from ENSG00000135821 to ENSG00000135821 (gene set migration)
Additional findings_Paediatric v1.0 GBE1 Gene migrated from ENSG00000114480 to ENSG00000114480 (gene set migration)
Additional findings_Paediatric v1.0 GATAD1 Gene migrated from ENSG00000157259 to ENSG00000157259 (gene set migration)
Additional findings_Paediatric v1.0 GATA6 Gene migrated from ENSG00000141448 to ENSG00000141448 (gene set migration)
Additional findings_Paediatric v1.0 GATA5 Gene migrated from ENSG00000130700 to ENSG00000130700 (gene set migration)
Additional findings_Paediatric v1.0 GATA1 Gene migrated from ENSG00000102145 to ENSG00000102145 (gene set migration)
Additional findings_Paediatric v1.0 FOXH1 Gene migrated from ENSG00000160973 to ENSG00000160973 (gene set migration)
Additional findings_Paediatric v1.0 FOXF2 Gene migrated from ENSG00000137273 to ENSG00000137273 (gene set migration)
Additional findings_Paediatric v1.0 FOXE1 Gene migrated from ENSG00000178919 to ENSG00000178919 (gene set migration)
Additional findings_Paediatric v1.0 FMO3 Gene migrated from ENSG00000007933 to ENSG00000007933 (gene set migration)
Additional findings_Paediatric v1.0 FLNC Gene migrated from ENSG00000128591 to ENSG00000128591 (gene set migration)
Additional findings_Paediatric v1.0 FANCL Gene migrated from ENSG00000115392 to ENSG00000115392 (gene set migration)
Additional findings_Paediatric v1.0 FANCF Gene migrated from ENSG00000183161 to ENSG00000183161 (gene set migration)
Additional findings_Paediatric v1.0 FANCE Gene migrated from ENSG00000112039 to ENSG00000112039 (gene set migration)
Additional findings_Paediatric v1.0 FAM111B Gene migrated from ENSG00000189057 to ENSG00000189057 (gene set migration)
Additional findings_Paediatric v1.0 ERCC4 Gene migrated from ENSG00000175595 to ENSG00000175595 (gene set migration)
Additional findings_Paediatric v1.0 ERCC3 Gene migrated from ENSG00000163161 to ENSG00000163161 (gene set migration)
Additional findings_Paediatric v1.0 ERCC1 Gene migrated from ENSG00000012061 to ENSG00000012061 (gene set migration)
Additional findings_Paediatric v1.0 EFEMP2 Gene migrated from ENSG00000172638 to ENSG00000172638 (gene set migration)
Additional findings_Paediatric v1.0 ECE1 Gene migrated from ENSG00000117298 to ENSG00000117298 (gene set migration)
Additional findings_Paediatric v1.0 DTNBP1 Gene migrated from ENSG00000047579 to ENSG00000047579 (gene set migration)
Additional findings_Paediatric v1.0 DTNA Gene migrated from ENSG00000134769 to ENSG00000134769 (gene set migration)
Additional findings_Paediatric v1.0 DTHD1 Gene migrated from ENSG00000197057 to ENSG00000197057 (gene set migration)
Additional findings_Paediatric v1.0 DNAJC5 Gene migrated from ENSG00000101152 to ENSG00000101152 (gene set migration)
Additional findings_Paediatric v1.0 DNAJC19 Gene migrated from ENSG00000205981 to ENSG00000205981 (gene set migration)
Additional findings_Paediatric v1.0 DNAI2 Gene migrated from ENSG00000171595 to ENSG00000171595 (gene set migration)
Additional findings_Paediatric v1.0 DNAAF3 Gene migrated from ENSG00000167646 to ENSG00000167646 (gene set migration)
Additional findings_Paediatric v1.0 DNAAF2 Gene migrated from ENSG00000165506 to ENSG00000165506 (gene set migration)
Additional findings_Paediatric v1.0 DECR1 Gene migrated from ENSG00000104325 to ENSG00000104325 (gene set migration)
Additional findings_Paediatric v1.0 DDR2 Gene migrated from ENSG00000162733 to ENSG00000162733 (gene set migration)
Additional findings_Paediatric v1.0 DDOST Gene migrated from ENSG00000244038 to ENSG00000244038 (gene set migration)
Additional findings_Paediatric v1.0 DDHD1 Gene migrated from ENSG00000100523 to ENSG00000100523 (gene set migration)
Additional findings_Paediatric v1.0 CSTA Gene migrated from ENSG00000121552 to ENSG00000121552 (gene set migration)
Additional findings_Paediatric v1.0 CSRP3 Gene migrated from ENSG00000129170 to ENSG00000129170 (gene set migration)
Additional findings_Paediatric v1.0 CSF2RB Gene migrated from ENSG00000100368 to ENSG00000100368 (gene set migration)
Additional findings_Paediatric v1.0 CSF1R Gene migrated from ENSG00000182578 to ENSG00000182578 (gene set migration)
Additional findings_Paediatric v1.0 CRELD1 Gene migrated from ENSG00000163703 to ENSG00000163703 (gene set migration)
Additional findings_Paediatric v1.0 CR2 Gene migrated from ENSG00000117322 to ENSG00000117322 (gene set migration)
Additional findings_Paediatric v1.0 COG4 Gene migrated from ENSG00000103051 to ENSG00000103051 (gene set migration)
Additional findings_Paediatric v1.0 CNTNAP2 Gene migrated from ENSG00000174469 to ENSG00000174469 (gene set migration)
Additional findings_Paediatric v1.0 CLMP Gene migrated from ENSG00000166250 to ENSG00000166250 (gene set migration)
Additional findings_Paediatric v1.0 CHST3 Gene migrated from ENSG00000122863 to ENSG00000122863 (gene set migration)
Additional findings_Paediatric v1.0 CHRNB1 Gene migrated from ENSG00000170175 to ENSG00000170175 (gene set migration)
Additional findings_Paediatric v1.0 CHRNA2 Gene migrated from ENSG00000120903 to ENSG00000120903 (gene set migration)
Additional findings_Paediatric v1.0 CHRM2 Gene migrated from ENSG00000181072 to ENSG00000181072 (gene set migration)
Additional findings_Paediatric v1.0 CHEK2 Gene migrated from ENSG00000183765 to ENSG00000183765 (gene set migration)
Additional findings_Paediatric v1.0 CFD Gene migrated from ENSG00000197766 to ENSG00000197766 (gene set migration)
Additional findings_Paediatric v1.0 CFB Gene migrated from ENSG00000243649 to ENSG00000243649 (gene set migration)
Additional findings_Paediatric v1.0 CEP41 Gene migrated from ENSG00000106477 to ENSG00000106477 (gene set migration)
Additional findings_Paediatric v1.0 CPAP Gene symbol changed from CENPJ to CPAP during gene set migration (ENSG00000151849 -> ENSG00000151849)
Additional findings_Paediatric v1.0 CEACAM16 Gene migrated from ENSG00000213892 to ENSG00000213892 (gene set migration)
Additional findings_Paediatric v1.0 CDON Gene migrated from ENSG00000064309 to ENSG00000064309 (gene set migration)
Additional findings_Paediatric v1.0 CDH1 Gene migrated from ENSG00000039068 to ENSG00000039068 (gene set migration)
Additional findings_Paediatric v1.0 CACNA1D Gene migrated from ENSG00000157388 to ENSG00000157388 (gene set migration)
Additional findings_Paediatric v1.0 C3 Gene migrated from ENSG00000125730 to ENSG00000125730 (gene set migration)
Additional findings_Paediatric v1.0 POPDC1 Gene symbol changed from BVES to POPDC1 during gene set migration (ENSG00000112276 -> ENSG00000112276)
Additional findings_Paediatric v1.0 BRCA2 Gene migrated from ENSG00000139618 to ENSG00000139618 (gene set migration)
Additional findings_Paediatric v1.0 BLOC1S6 Gene migrated from ENSG00000104164 to ENSG00000104164 (gene set migration)
Additional findings_Paediatric v1.0 BLOC1S3 Gene migrated from ENSG00000189114 to ENSG00000189114 (gene set migration)
Additional findings_Paediatric v1.0 BDNF Gene migrated from ENSG00000176697 to ENSG00000176697 (gene set migration)
Additional findings_Paediatric v1.0 BCL9 Gene migrated from ENSG00000116128 to ENSG00000116128 (gene set migration)
Additional findings_Paediatric v1.0 BARD1 Gene migrated from ENSG00000138376 to ENSG00000138376 (gene set migration)
Additional findings_Paediatric v1.0 AXL Gene migrated from ENSG00000167601 to ENSG00000167601 (gene set migration)
Additional findings_Paediatric v1.0 ATR Gene migrated from ENSG00000175054 to ENSG00000175054 (gene set migration)
Additional findings_Paediatric v1.0 ATP6AP2 Gene migrated from ENSG00000182220 to ENSG00000182220 (gene set migration)
Additional findings_Paediatric v1.0 ATP1A3 Gene migrated from ENSG00000105409 to ENSG00000105409 (gene set migration)
Additional findings_Paediatric v1.0 ARL13B Gene migrated from ENSG00000169379 to ENSG00000169379 (gene set migration)
Additional findings_Paediatric v1.0 ARID1A Gene migrated from ENSG00000117713 to ENSG00000117713 (gene set migration)
Additional findings_Paediatric v1.0 ARHGEF9 Gene migrated from ENSG00000131089 to ENSG00000131089 (gene set migration)
Additional findings_Paediatric v1.0 ARHGAP31 Gene migrated from ENSG00000031081 to ENSG00000031081 (gene set migration)
Additional findings_Paediatric v1.0 ATN1 Gene migrated from ENSG00000111676 to ENSG00000111676 (gene set migration)
Additional findings_Paediatric v1.0 ALDH1A2 Gene migrated from ENSG00000128918 to ENSG00000128918 (gene set migration)
Additional findings_Paediatric v1.0 AKT3 Gene migrated from ENSG00000117020 to ENSG00000117020 (gene set migration)
Additional findings_Paediatric v1.0 AKT2 Gene migrated from ENSG00000105221 to ENSG00000105221 (gene set migration)
Additional findings_Paediatric v1.0 AKAP9 Gene migrated from ENSG00000127914 to ENSG00000127914 (gene set migration)
Additional findings_Paediatric v1.0 AK1 Gene migrated from ENSG00000106992 to ENSG00000106992 (gene set migration)
Additional findings_Paediatric v1.0 ADAM17 Gene migrated from ENSG00000151694 to ENSG00000151694 (gene set migration)
Additional findings_Paediatric v1.0 ACVR2B Gene migrated from ENSG00000114739 to ENSG00000114739 (gene set migration)
Additional findings_Paediatric v1.0 ACTN2 Gene migrated from ENSG00000077522 to ENSG00000077522 (gene set migration)
Additional findings_Paediatric v1.0 ACADL Gene migrated from ENSG00000115361 to ENSG00000115361 (gene set migration)
Additional findings_Paediatric v1.0 ABCD4 Gene migrated from ENSG00000119688 to ENSG00000119688 (gene set migration)
Additional findings_Paediatric v1.0 ABCC9 Gene migrated from ENSG00000069431 to ENSG00000069431 (gene set migration)
Additional findings_Paediatric v1.0 APOE Gene migrated from ENSG00000130203 to ENSG00000130203 (gene set migration)
Additional findings_Paediatric v1.0 ABCB7 Gene migrated from ENSG00000131269 to ENSG00000131269 (gene set migration)
Additional findings_Paediatric v1.0 LBR Gene migrated from ENSG00000143815 to ENSG00000143815 (gene set migration)
Additional findings_Paediatric v1.0 LARS1 Gene symbol changed from LARS to LARS1 during gene set migration (ENSG00000133706 -> ENSG00000133706)
Additional findings_Paediatric v1.0 SNTA1 Gene migrated from ENSG00000101400 to ENSG00000101400 (gene set migration)
Additional findings_Paediatric v1.0 TRPM2 Gene migrated from ENSG00000142185 to ENSG00000142185 (gene set migration)
Additional findings_Paediatric v1.0 B4GALT1 Gene migrated from ENSG00000086062 to ENSG00000086062 (gene set migration)
Additional findings_Paediatric v1.0 B3GAT3 Gene migrated from ENSG00000149541 to ENSG00000149541 (gene set migration)
Additional findings_Paediatric v1.0 ATIC Gene migrated from ENSG00000138363 to ENSG00000138363 (gene set migration)
Additional findings_Paediatric v1.0 ASNS Gene migrated from ENSG00000070669 to ENSG00000070669 (gene set migration)
Additional findings_Paediatric v1.0 ASCL1 Gene migrated from ENSG00000139352 to ENSG00000139352 (gene set migration)
Additional findings_Paediatric v1.0 ARSL Gene symbol changed from ARSE to ARSL during gene set migration (ENSG00000157399 -> ENSG00000157399)
Additional findings_Paediatric v1.0 TSFM Gene migrated from ENSG00000123297 to ENSG00000123297 (gene set migration)
Additional findings_Paediatric v1.0 APP Gene migrated from ENSG00000142192 to ENSG00000142192 (gene set migration)
Additional findings_Paediatric v1.0 AP1S3 Gene migrated from ENSG00000152056 to ENSG00000152056 (gene set migration)
Additional findings_Paediatric v1.0 ANO5 Gene migrated from ENSG00000171714 to ENSG00000171714 (gene set migration)
Additional findings_Paediatric v1.0 ANKRD1 Gene migrated from ENSG00000148677 to ENSG00000148677 (gene set migration)
Additional findings_Paediatric v1.0 AMPD1 Gene migrated from ENSG00000116748 to ENSG00000116748 (gene set migration)
Additional findings_Paediatric v1.0 AMACR Gene migrated from ENSG00000242110 to ENSG00000242110 (gene set migration)
Additional findings_Paediatric v1.0 ALG2 Gene migrated from ENSG00000119523 to ENSG00000119523 (gene set migration)
Additional findings_Paediatric v1.0 ALG11 Gene migrated from ENSG00000253710 to ENSG00000253710 (gene set migration)
Additional findings_Paediatric v1.0 ALDOA Gene migrated from ENSG00000149925 to ENSG00000149925 (gene set migration)
Additional findings_Paediatric v1.0 ALDH4A1 Gene migrated from ENSG00000159423 to ENSG00000159423 (gene set migration)
Additional findings_Paediatric v1.0 AHSP Gene migrated from ENSG00000169877 to ENSG00000169877 (gene set migration)
Additional findings_Paediatric v1.0 AGTR1 Gene migrated from ENSG00000144891 to ENSG00000144891 (gene set migration)
Additional findings_Paediatric v1.0 AGPS Gene migrated from ENSG00000018510 to ENSG00000018510 (gene set migration)
Additional findings_Paediatric v1.0 ADAMTS2 Gene migrated from ENSG00000087116 to ENSG00000087116 (gene set migration)
Additional findings_Paediatric v1.0 ACTB Gene migrated from ENSG00000075624 to ENSG00000075624 (gene set migration)
Additional findings_Paediatric v1.0 NRXN1 Gene migrated from ENSG00000179915 to ENSG00000179915 (gene set migration)
Additional findings_Paediatric v1.0 ACTA1 Gene migrated from ENSG00000143632 to ENSG00000143632 (gene set migration)
Additional findings_Paediatric v1.0 ACO2 Gene migrated from ENSG00000100412 to ENSG00000100412 (gene set migration)
Additional findings_Paediatric v1.0 ACBD5 Gene migrated from ENSG00000107897 to ENSG00000107897 (gene set migration)
Additional findings_Paediatric v1.0 ACTC1 Gene migrated from ENSG00000159251 to ENSG00000159251 (gene set migration)
Additional findings_Paediatric v1.0 ACADSB Gene migrated from ENSG00000196177 to ENSG00000196177 (gene set migration)
Additional findings_Paediatric v1.0 ABAT Gene migrated from ENSG00000183044 to ENSG00000183044 (gene set migration)
Additional findings_Paediatric v1.0 AARS2 Gene migrated from ENSG00000124608 to ENSG00000124608 (gene set migration)
Additional findings_Paediatric v1.0 SLCO1B1 Gene migrated from ENSG00000134538 to ENSG00000134538 (gene set migration)
Additional findings_Paediatric v1.0 AGT Gene migrated from ENSG00000135744 to ENSG00000135744 (gene set migration)
Additional findings_Paediatric v1.0 TRIP11 Gene migrated from ENSG00000100815 to ENSG00000100815 (gene set migration)
Additional findings_Paediatric v1.0 TRHR Gene migrated from ENSG00000174417 to ENSG00000174417 (gene set migration)
Additional findings_Paediatric v1.0 TRH Gene migrated from ENSG00000170893 to ENSG00000170893 (gene set migration)
Additional findings_Paediatric v1.0 TMC8 Gene migrated from ENSG00000167895 to ENSG00000167895 (gene set migration)
Additional findings_Paediatric v1.0 TJP2 Gene migrated from ENSG00000119139 to ENSG00000119139 (gene set migration)
Additional findings_Paediatric v1.0 THBS1 Gene migrated from ENSG00000137801 to ENSG00000137801 (gene set migration)
Additional findings_Paediatric v1.0 TCTN3 Gene migrated from ENSG00000119977 to ENSG00000119977 (gene set migration)
Additional findings_Paediatric v1.0 TCTN1 Gene migrated from ENSG00000204852 to ENSG00000204852 (gene set migration)
Additional findings_Paediatric v1.0 TCAP Gene migrated from ENSG00000173991 to ENSG00000173991 (gene set migration)
Additional findings_Paediatric v1.0 TBX20 Gene migrated from ENSG00000164532 to ENSG00000164532 (gene set migration)
Additional findings_Paediatric v1.0 TBCE Gene migrated from ENSG00000116957 to ENSG00000284770 (gene set migration)
Additional findings_Paediatric v1.0 ST3GAL5 Gene migrated from ENSG00000115525 to ENSG00000115525 (gene set migration)
Additional findings_Paediatric v1.0 ST14 Gene migrated from ENSG00000149418 to ENSG00000149418 (gene set migration)
Additional findings_Paediatric v1.0 SPTLC2 Gene migrated from ENSG00000100596 to ENSG00000100596 (gene set migration)
Additional findings_Paediatric v1.0 SP7 Gene migrated from ENSG00000170374 to ENSG00000170374 (gene set migration)
Additional findings_Paediatric v1.0 SMAD6 Gene migrated from ENSG00000137834 to ENSG00000137834 (gene set migration)
Additional findings_Paediatric v1.0 SMAD1 Gene migrated from ENSG00000170365 to ENSG00000170365 (gene set migration)
Additional findings_Paediatric v1.0 SLCO1B3 Gene migrated from ENSG00000111700 to ENSG00000111700 (gene set migration)
Additional findings_Paediatric v1.0 CLCN1 Gene migrated from ENSG00000188037 to ENSG00000188037 (gene set migration)
Additional findings_Paediatric v1.0 NHERF1 Gene symbol changed from SLC9A3R1 to NHERF1 during gene set migration (ENSG00000109062 -> ENSG00000109062)
Additional findings_Paediatric v1.0 SLC6A2 Gene migrated from ENSG00000103546 to ENSG00000103546 (gene set migration)
Additional findings_Paediatric v1.0 SLC4A4 Gene migrated from ENSG00000080493 to ENSG00000080493 (gene set migration)
Additional findings_Paediatric v1.0 SLC4A10 Gene migrated from ENSG00000144290 to ENSG00000144290 (gene set migration)
Additional findings_Paediatric v1.0 SLC25A22 Gene migrated from ENSG00000177542 to ENSG00000177542 (gene set migration)
Additional findings_Paediatric v1.0 LAMA4 Gene migrated from ENSG00000112769 to ENSG00000112769 (gene set migration)
Additional findings_Paediatric v1.0 SLC25A12 Gene migrated from ENSG00000115840 to ENSG00000115840 (gene set migration)
Additional findings_Paediatric v1.0 SLC16A12 Gene migrated from ENSG00000152779 to ENSG00000152779 (gene set migration)
Additional findings_Paediatric v1.0 SLC16A1 Gene migrated from ENSG00000155380 to ENSG00000155380 (gene set migration)
Additional findings_Paediatric v1.0 SLC12A5 Gene migrated from ENSG00000124140 to ENSG00000124140 (gene set migration)
Additional findings_Paediatric v1.0 SH3BP2 Gene migrated from ENSG00000087266 to ENSG00000087266 (gene set migration)
Additional findings_Paediatric v1.0 SFTPA2 Gene migrated from ENSG00000185303 to ENSG00000185303 (gene set migration)
Additional findings_Paediatric v1.0 SERPIND1 Gene migrated from ENSG00000099937 to ENSG00000099937 (gene set migration)
Additional findings_Paediatric v1.0 KRT8 Gene migrated from ENSG00000170421 to ENSG00000170421 (gene set migration)
Additional findings_Paediatric v1.0 CCDC50 Gene migrated from ENSG00000152492 to ENSG00000152492 (gene set migration)
Additional findings_Paediatric v1.0 SCO1 Gene migrated from ENSG00000133028 to ENSG00000133028 (gene set migration)
Additional findings_Paediatric v1.0 SCNN1G Gene migrated from ENSG00000166828 to ENSG00000166828 (gene set migration)
Additional findings_Paediatric v1.0 SCN4B Gene migrated from ENSG00000177098 to ENSG00000177098 (gene set migration)
Additional findings_Paediatric v1.0 SCN4A Gene migrated from ENSG00000007314 to ENSG00000007314 (gene set migration)
Additional findings_Paediatric v1.0 RPS7 Gene migrated from ENSG00000171863 to ENSG00000171863 (gene set migration)
Additional findings_Paediatric v1.0 RPS10 Gene migrated from ENSG00000124614 to ENSG00000124614 (gene set migration)
Additional findings_Paediatric v1.0 RPL35A Gene migrated from ENSG00000182899 to ENSG00000182899 (gene set migration)
Additional findings_Paediatric v1.0 RHAG Gene migrated from ENSG00000112077 to ENSG00000112077 (gene set migration)
Additional findings_Paediatric v1.0 RFX6 Gene migrated from ENSG00000185002 to ENSG00000185002 (gene set migration)
Additional findings_Paediatric v1.0 RAB10 Gene migrated from ENSG00000084733 to ENSG00000084733 (gene set migration)
Additional findings_Paediatric v1.0 NECTIN1 Gene migrated from ENSG00000110400 to ENSG00000110400 (gene set migration)
Additional findings_Paediatric v1.0 PSEN2 Gene migrated from ENSG00000143801 to ENSG00000143801 (gene set migration)
Additional findings_Paediatric v1.0 PSEN1 Gene migrated from ENSG00000080815 to ENSG00000080815 (gene set migration)
Additional findings_Paediatric v1.0 PSAT1 Gene migrated from ENSG00000135069 to ENSG00000135069 (gene set migration)
Additional findings_Paediatric v1.0 PRKAG2 Gene migrated from ENSG00000106617 to ENSG00000106617 (gene set migration)
Additional findings_Paediatric v1.0 PRICKLE1 Gene migrated from ENSG00000139174 to ENSG00000139174 (gene set migration)
Additional findings_Paediatric v1.0 PREPL Gene migrated from ENSG00000138078 to ENSG00000138078 (gene set migration)
Additional findings_Paediatric v1.0 PRDM16 Gene migrated from ENSG00000142611 to ENSG00000142611 (gene set migration)
Additional findings_Paediatric v1.0 PPOX Gene migrated from ENSG00000143224 to ENSG00000143224 (gene set migration)
Additional findings_Paediatric v1.0 PLN Gene migrated from ENSG00000198523 to ENSG00000198523 (gene set migration)
Additional findings_Paediatric v1.0 PHOX2A Gene migrated from ENSG00000165462 to ENSG00000165462 (gene set migration)
Additional findings_Paediatric v1.0 PHKA1 Gene migrated from ENSG00000067177 to ENSG00000067177 (gene set migration)
Additional findings_Paediatric v1.0 PEX19 Gene migrated from ENSG00000162735 to ENSG00000162735 (gene set migration)
Additional findings_Paediatric v1.0 PEX16 Gene migrated from ENSG00000121680 to ENSG00000121680 (gene set migration)
Additional findings_Paediatric v1.0 PDP1 Gene migrated from ENSG00000164951 to ENSG00000164951 (gene set migration)
Additional findings_Paediatric v1.0 PDLIM3 Gene migrated from ENSG00000154553 to ENSG00000154553 (gene set migration)
Additional findings_Paediatric v1.0 PDE11A Gene migrated from ENSG00000128655 to ENSG00000128655 (gene set migration)
Additional findings_Paediatric v1.0 ACSF3 Gene migrated from ENSG00000176715 to ENSG00000176715 (gene set migration)
Additional findings_Paediatric v1.0 PABPN1 Gene migrated from ENSG00000100836 to ENSG00000100836 (gene set migration)
Additional findings_Paediatric v1.0 OPA3 Gene migrated from ENSG00000125741 to ENSG00000125741 (gene set migration)
Additional findings_Paediatric v1.0 NUP62 Gene migrated from ENSG00000213024 to ENSG00000213024 (gene set migration)
Additional findings_Paediatric v1.0 NUP155 Gene migrated from ENSG00000113569 to ENSG00000113569 (gene set migration)
Additional findings_Paediatric v1.0 ZNF674 Gene migrated from ENSG00000251192 to ENSG00000251192 (gene set migration)
Additional findings_Paediatric v1.0 NUB1 Gene migrated from ENSG00000013374 to ENSG00000013374 (gene set migration)
Additional findings_Paediatric v1.0 ZNF252P Gene migrated from ENSG00000196922 to ENSG00000196922 (gene set migration)
Additional findings_Paediatric v1.0 NSDHL Gene migrated from ENSG00000147383 to ENSG00000147383 (gene set migration)
Additional findings_Paediatric v1.0 NME8 Gene migrated from ENSG00000086288 to ENSG00000086288 (gene set migration)
Additional findings_Paediatric v1.0 NLRP7 Gene migrated from ENSG00000167634 to ENSG00000167634 (gene set migration)
Additional findings_Paediatric v1.0 NLGN4X Gene migrated from ENSG00000146938 to ENSG00000146938 (gene set migration)
Additional findings_Paediatric v1.0 NLGN3 Gene migrated from ENSG00000196338 to ENSG00000196338 (gene set migration)
Additional findings_Paediatric v1.0 NKX3-2 Gene migrated from ENSG00000109705 to ENSG00000109705 (gene set migration)
Additional findings_Paediatric v1.0 NIN Gene migrated from ENSG00000100503 to ENSG00000100503 (gene set migration)
Additional findings_Paediatric v1.0 NHP2 Gene migrated from ENSG00000145912 to ENSG00000145912 (gene set migration)
Additional findings_Paediatric v1.0 NFATC1 Gene migrated from ENSG00000131196 to ENSG00000131196 (gene set migration)
Additional findings_Paediatric v1.0 NEXN Gene migrated from ENSG00000162614 to ENSG00000162614 (gene set migration)
Additional findings_Paediatric v1.0 NCF4 Gene migrated from ENSG00000100365 to ENSG00000100365 (gene set migration)
Additional findings_Paediatric v1.0 NAA15 Gene migrated from ENSG00000164134 to ENSG00000164134 (gene set migration)
Additional findings_Paediatric v1.0 NAA10 Gene migrated from ENSG00000102030 to ENSG00000102030 (gene set migration)
Additional findings_Paediatric v1.0 MYPN Gene migrated from ENSG00000138347 to ENSG00000138347 (gene set migration)
Additional findings_Paediatric v1.0 MYO1C Gene migrated from ENSG00000197879 to ENSG00000197879 (gene set migration)
Additional findings_Paediatric v1.0 MYLK2 Gene migrated from ENSG00000101306 to ENSG00000101306 (gene set migration)
Additional findings_Paediatric v1.0 MYH6 Gene migrated from ENSG00000197616 to ENSG00000197616 (gene set migration)
Additional findings_Paediatric v1.0 MYBPC3 Gene migrated from ENSG00000134571 to ENSG00000134571 (gene set migration)
Additional findings_Paediatric v1.0 CAVIN4 Gene migrated from ENSG00000170681 to ENSG00000170681 (gene set migration)
Additional findings_Paediatric v1.0 MSRB3 Gene migrated from ENSG00000174099 to ENSG00000174099 (gene set migration)
Additional findings_Paediatric v1.0 MSH6 Gene migrated from ENSG00000116062 to ENSG00000116062 (gene set migration)
Additional findings_Paediatric v1.0 MSH2 Gene migrated from ENSG00000095002 to ENSG00000095002 (gene set migration)
Additional findings_Paediatric v1.0 MRPS22 Gene migrated from ENSG00000175110 to ENSG00000175110 (gene set migration)
Additional findings_Paediatric v1.0 MRPS16 Gene migrated from ENSG00000182180 to ENSG00000182180 (gene set migration)
Additional findings_Paediatric v1.0 MOGS Gene migrated from ENSG00000115275 to ENSG00000115275 (gene set migration)
Additional findings_Paediatric v1.0 MLPH Gene migrated from ENSG00000115648 to ENSG00000115648 (gene set migration)
Additional findings_Paediatric v1.0 MLH1 Gene migrated from ENSG00000076242 to ENSG00000076242 (gene set migration)
Additional findings_Paediatric v1.0 MIR96 Gene migrated from ENSG00000199158 to ENSG00000199158 (gene set migration)
Additional findings_Paediatric v1.0 MED13L Gene migrated from ENSG00000123066 to ENSG00000123066 (gene set migration)
Additional findings_Paediatric v1.0 MCEE Gene migrated from ENSG00000124370 to ENSG00000124370 (gene set migration)
Additional findings_Paediatric v1.0 MATN4 Gene migrated from ENSG00000124159 to ENSG00000124159 (gene set migration)
Additional findings_Paediatric v1.0 MAT1A Gene migrated from ENSG00000151224 to ENSG00000151224 (gene set migration)
Additional findings_Paediatric v1.0 MAPT Gene migrated from ENSG00000186868 to ENSG00000186868 (gene set migration)
Additional findings_Paediatric v1.0 LMNB2 Gene migrated from ENSG00000176619 to ENSG00000176619 (gene set migration)
Additional findings_Paediatric v1.0 LHB Gene migrated from ENSG00000104826 to ENSG00000104826 (gene set migration)
Additional findings_Paediatric v1.0 LGI1 Gene migrated from ENSG00000108231 to ENSG00000108231 (gene set migration)
Additional findings_Paediatric v1.0 LDB3 Gene migrated from ENSG00000122367 to ENSG00000122367 (gene set migration)
Additional findings_Paediatric v1.0 KPTN Gene migrated from ENSG00000118162 to ENSG00000118162 (gene set migration)
Additional findings_Paediatric v1.0 KIF22 Gene migrated from ENSG00000079616 to ENSG00000079616 (gene set migration)
Additional findings_Paediatric v1.0 KIF1B Gene migrated from ENSG00000054523 to ENSG00000054523 (gene set migration)
Additional findings_Paediatric v1.0 KIFBP Gene symbol changed from KIF1BP to KIFBP during gene set migration (ENSG00000198954 -> ENSG00000198954)
Additional findings_Paediatric v1.0 KCNJ18 Gene migrated from ENSG00000260458 to ENSG00000260458 (gene set migration)
Additional findings_Paediatric v1.0 KCNE3 Gene migrated from ENSG00000175538 to ENSG00000175538 (gene set migration)
Additional findings_Paediatric v1.0 KCNE5 Gene migrated from ENSG00000176076 to ENSG00000176076 (gene set migration)
Additional findings_Paediatric v1.0 KCND3 Gene migrated from ENSG00000171385 to ENSG00000171385 (gene set migration)
Additional findings_Paediatric v1.0 ITGA6 Gene migrated from ENSG00000091409 to ENSG00000091409 (gene set migration)
Additional findings_Paediatric v1.0 ISL1 Gene migrated from ENSG00000016082 to ENSG00000016082 (gene set migration)
Additional findings_Paediatric v1.0 ZFPM2 Gene migrated from ENSG00000169946 to ENSG00000169946 (gene set migration)
Additional findings_Paediatric v1.0 ISCU Gene migrated from ENSG00000136003 to ENSG00000136003 (gene set migration)
Additional findings_Paediatric v1.0 IRS1 Gene migrated from ENSG00000169047 to ENSG00000169047 (gene set migration)
Additional findings_Paediatric v1.0 ILK Gene migrated from ENSG00000166333 to ENSG00000166333 (gene set migration)
Additional findings_Paediatric v1.0 IL10RB Gene migrated from ENSG00000243646 to ENSG00000243646 (gene set migration)
Additional findings_Paediatric v1.0 IGF1 Gene migrated from ENSG00000017427 to ENSG00000017427 (gene set migration)
Additional findings_Paediatric v1.0 IGBP1 Gene migrated from ENSG00000089289 to ENSG00000089289 (gene set migration)
Additional findings_Paediatric v1.0 IFT80 Gene migrated from ENSG00000068885 to ENSG00000068885 (gene set migration)
Additional findings_Paediatric v1.0 KRT6B Gene migrated from ENSG00000185479 to ENSG00000185479 (gene set migration)
Additional findings_Paediatric v1.0 HOXA1 Gene migrated from ENSG00000105991 to ENSG00000105991 (gene set migration)
Additional findings_Paediatric v1.0 HOMEZ Gene migrated from ENSG00000215271 to ENSG00000290292 (gene set migration)
Additional findings_Paediatric v1.0 HNF1B Gene migrated from ENSG00000275410 to ENSG00000275410 (gene set migration)
Additional findings_Paediatric v1.0 HESX1 Gene migrated from ENSG00000163666 to ENSG00000163666 (gene set migration)
Additional findings_Paediatric v1.0 HERC2 Gene migrated from ENSG00000128731 to ENSG00000128731 (gene set migration)
Additional findings_Paediatric v1.0 DNAAF5 Gene migrated from ENSG00000164818 to ENSG00000164818 (gene set migration)
Additional findings_Paediatric v1.0 HCN4 Gene migrated from ENSG00000138622 to ENSG00000138622 (gene set migration)
Additional findings_Paediatric v1.0 HCCS Gene migrated from ENSG00000004961 to ENSG00000004961 (gene set migration)
Additional findings_Paediatric v1.0 GUCY2C Gene migrated from ENSG00000070019 to ENSG00000070019 (gene set migration)
Additional findings_Paediatric v1.0 GTF2H5 Gene migrated from ENSG00000272047 to ENSG00000272047 (gene set migration)
Additional findings_Paediatric v1.0 YARS2 Gene migrated from ENSG00000139131 to ENSG00000139131 (gene set migration)
Additional findings_Paediatric v1.0 GRIN2A Gene migrated from ENSG00000183454 to ENSG00000183454 (gene set migration)
Additional findings_Paediatric v1.0 GPX1 Gene migrated from ENSG00000233276 to ENSG00000233276 (gene set migration)
Additional findings_Paediatric v1.0 HAS2 Gene migrated from ENSG00000170961 to ENSG00000170961 (gene set migration)
Additional findings_Paediatric v1.0 GLRB Gene migrated from ENSG00000109738 to ENSG00000109738 (gene set migration)
Additional findings_Paediatric v1.0 GLIS3 Gene migrated from ENSG00000107249 to ENSG00000107249 (gene set migration)
Additional findings_Paediatric v1.0 GLI2 Gene migrated from ENSG00000074047 to ENSG00000074047 (gene set migration)
Additional findings_Paediatric v1.0 GLE1 Gene migrated from ENSG00000119392 to ENSG00000119392 (gene set migration)
Additional findings_Paediatric v1.0 GFER Gene migrated from ENSG00000127554 to ENSG00000127554 (gene set migration)
Additional findings_Paediatric v1.0 GDNF Gene migrated from ENSG00000168621 to ENSG00000168621 (gene set migration)
Additional findings_Paediatric v1.0 GDF1 Gene migrated from ENSG00000130283 to ENSG00000130283 (gene set migration)
Additional findings_Paediatric v1.0 GCSH Gene migrated from ENSG00000140905 to ENSG00000140905 (gene set migration)
Additional findings_Paediatric v1.0 GCLC Gene migrated from ENSG00000001084 to ENSG00000001084 (gene set migration)
Additional findings_Paediatric v1.0 GABRA1 Gene migrated from ENSG00000022355 to ENSG00000022355 (gene set migration)
Additional findings_Paediatric v1.0 FTCD Gene migrated from ENSG00000160282 to ENSG00000160282 (gene set migration)
Additional findings_Paediatric v1.0 FSCN2 Gene migrated from ENSG00000186765 to ENSG00000186765 (gene set migration)
Additional findings_Paediatric v1.0 FREM2 Gene migrated from ENSG00000150893 to ENSG00000150893 (gene set migration)
Additional findings_Paediatric v1.0 FREM1 Gene migrated from ENSG00000164946 to ENSG00000164946 (gene set migration)
Additional findings_Paediatric v1.0 FOXN1 Gene migrated from ENSG00000109101 to ENSG00000109101 (gene set migration)
Additional findings_Paediatric v1.0 FLG Gene migrated from ENSG00000143631 to ENSG00000143631 (gene set migration)
Additional findings_Paediatric v1.0 FKBPL Gene migrated from ENSG00000204315 to ENSG00000204315 (gene set migration)
Additional findings_Paediatric v1.0 FHL2 Gene migrated from ENSG00000115641 to ENSG00000115641 (gene set migration)
Additional findings_Paediatric v1.0 WDR36 Gene migrated from ENSG00000134987 to ENSG00000134987 (gene set migration)
Additional findings_Paediatric v1.0 FHL1 Gene migrated from ENSG00000022267 to ENSG00000022267 (gene set migration)
Additional findings_Paediatric v1.0 WDR35 Gene migrated from ENSG00000118965 to ENSG00000118965 (gene set migration)
Additional findings_Paediatric v1.0 WDR19 Gene migrated from ENSG00000157796 to ENSG00000157796 (gene set migration)
Additional findings_Paediatric v1.0 FBLN5 Gene migrated from ENSG00000140092 to ENSG00000140092 (gene set migration)
Additional findings_Paediatric v1.0 FANCM Gene migrated from ENSG00000187790 to ENSG00000187790 (gene set migration)
Additional findings_Paediatric v1.0 FAAH2 Gene migrated from ENSG00000165591 to ENSG00000165591 (gene set migration)
Additional findings_Paediatric v1.0 ERBB3 Gene migrated from ENSG00000065361 to ENSG00000065361 (gene set migration)
Additional findings_Paediatric v1.0 EPHX1 Gene migrated from ENSG00000143819 to ENSG00000143819 (gene set migration)
Additional findings_Paediatric v1.0 VSX1 Gene migrated from ENSG00000100987 to ENSG00000100987 (gene set migration)
Additional findings_Paediatric v1.0 KRT18 Gene migrated from ENSG00000111057 to ENSG00000111057 (gene set migration)
Additional findings_Paediatric v1.0 EPCAM Gene migrated from ENSG00000119888 to ENSG00000119888 (gene set migration)
Additional findings_Paediatric v1.0 EPB42 Gene migrated from ENSG00000166947 to ENSG00000166947 (gene set migration)
Additional findings_Paediatric v1.0 EIF2B1 Gene migrated from ENSG00000111361 to ENSG00000111361 (gene set migration)
Additional findings_Paediatric v1.0 DPYD Gene migrated from ENSG00000188641 to ENSG00000188641 (gene set migration)
Additional findings_Paediatric v1.0 DPP6 Gene migrated from ENSG00000130226 to ENSG00000130226 (gene set migration)
Additional findings_Paediatric v1.0 DPM1 Gene migrated from ENSG00000000419 to ENSG00000000419 (gene set migration)
Additional findings_Paediatric v1.0 DNAL1 Gene migrated from ENSG00000119661 to ENSG00000119661 (gene set migration)
Additional findings_Paediatric v1.0 DLC1 Gene migrated from ENSG00000164741 to ENSG00000164741 (gene set migration)
Additional findings_Paediatric v1.0 DIABLO Gene migrated from ENSG00000184047 to ENSG00000184047 (gene set migration)
Additional findings_Paediatric v1.0 DHCR24 Gene migrated from ENSG00000116133 to ENSG00000116133 (gene set migration)
Additional findings_Paediatric v1.0 DGKE Gene migrated from ENSG00000153933 to ENSG00000153933 (gene set migration)
Additional findings_Paediatric v1.0 VPS53 Gene migrated from ENSG00000141252 to ENSG00000141252 (gene set migration)
Additional findings_Paediatric v1.0 EFHC1 Gene migrated from ENSG00000096093 to ENSG00000096093 (gene set migration)
Additional findings_Paediatric v1.0 DCTN1 Gene migrated from ENSG00000204843 to ENSG00000204843 (gene set migration)
Additional findings_Paediatric v1.0 DBH Gene migrated from ENSG00000123454 to ENSG00000123454 (gene set migration)
Additional findings_Paediatric v1.0 DAPK3 Gene migrated from ENSG00000167657 to ENSG00000167657 (gene set migration)
Additional findings_Paediatric v1.0 DAG1 Gene migrated from ENSG00000173402 to ENSG00000173402 (gene set migration)
Additional findings_Paediatric v1.0 CYP7B1 Gene migrated from ENSG00000172817 to ENSG00000172817 (gene set migration)
Additional findings_Paediatric v1.0 CYP7A1 Gene migrated from ENSG00000167910 to ENSG00000167910 (gene set migration)
Additional findings_Paediatric v1.0 CYCS Gene migrated from ENSG00000172115 to ENSG00000172115 (gene set migration)
Additional findings_Paediatric v1.0 CTF1 Gene migrated from ENSG00000150281 to ENSG00000150281 (gene set migration)
Additional findings_Paediatric v1.0 CTDP1 Gene migrated from ENSG00000060069 to ENSG00000060069 (gene set migration)
Additional findings_Paediatric v1.0 CPZ Gene migrated from ENSG00000109625 to ENSG00000109625 (gene set migration)
Additional findings_Paediatric v1.0 CPOX Gene migrated from ENSG00000080819 to ENSG00000080819 (gene set migration)
Additional findings_Paediatric v1.0 COX4I2 Gene migrated from ENSG00000131055 to ENSG00000131055 (gene set migration)
Additional findings_Paediatric v1.0 COQ6 Gene migrated from ENSG00000119723 to ENSG00000119723 (gene set migration)
Additional findings_Paediatric v1.0 COQ2 Gene migrated from ENSG00000173085 to ENSG00000173085 (gene set migration)
Additional findings_Paediatric v1.0 UBA1 Gene migrated from ENSG00000130985 to ENSG00000130985 (gene set migration)
Additional findings_Paediatric v1.0 COG7 Gene migrated from ENSG00000168434 to ENSG00000168434 (gene set migration)
Additional findings_Paediatric v1.0 CLDN1 Gene migrated from ENSG00000163347 to ENSG00000163347 (gene set migration)
Additional findings_Paediatric v1.0 TUBA8 Gene migrated from ENSG00000183785 to ENSG00000183785 (gene set migration)
Additional findings_Paediatric v1.0 CITED2 Gene migrated from ENSG00000164442 to ENSG00000164442 (gene set migration)
Additional findings_Paediatric v1.0 CISD2 Gene migrated from ENSG00000145354 to ENSG00000145354 (gene set migration)
Additional findings_Paediatric v1.0 ACADS Gene migrated from ENSG00000122971 to ENSG00000122971 (gene set migration)
Additional findings_Paediatric v1.0 UTP4 Gene migrated from ENSG00000141076 to ENSG00000141076 (gene set migration)
Additional findings_Paediatric v1.0 CHSY1 Gene migrated from ENSG00000131873 to ENSG00000131873 (gene set migration)
Additional findings_Paediatric v1.0 CFI Gene migrated from ENSG00000205403 to ENSG00000205403 (gene set migration)
Additional findings_Paediatric v1.0 CFHR5 Gene migrated from ENSG00000134389 to ENSG00000134389 (gene set migration)
Additional findings_Paediatric v1.0 CFHR4 Gene migrated from ENSG00000134365 to ENSG00000134365 (gene set migration)
Additional findings_Paediatric v1.0 CFHR3 Gene migrated from ENSG00000116785 to ENSG00000116785 (gene set migration)
Additional findings_Paediatric v1.0 CFHR1 Gene migrated from ENSG00000244414 to ENSG00000244414 (gene set migration)
Additional findings_Paediatric v1.0 CFH Gene migrated from ENSG00000000971 to ENSG00000000971 (gene set migration)
Additional findings_Paediatric v1.0 CD96 Gene migrated from ENSG00000153283 to ENSG00000153283 (gene set migration)
Additional findings_Paediatric v1.0 CD46 Gene migrated from ENSG00000117335 to ENSG00000117335 (gene set migration)
Additional findings_Paediatric v1.0 CD36 Gene migrated from ENSG00000135218 to ENSG00000135218 (gene set migration)
Additional findings_Paediatric v1.0 CD2AP Gene migrated from ENSG00000198087 to ENSG00000198087 (gene set migration)
Additional findings_Paediatric v1.0 CCDC88C Gene migrated from ENSG00000015133 to ENSG00000015133 (gene set migration)
Additional findings_Paediatric v1.0 CCDC78 Gene migrated from ENSG00000162004 to ENSG00000162004 (gene set migration)
Additional findings_Paediatric v1.0 DNAAF19 Gene symbol changed from CCDC103 to DNAAF19 during gene set migration (ENSG00000167131 -> ENSG00000167131)
Additional findings_Paediatric v1.0 TSPYL1 Gene migrated from ENSG00000189241 to ENSG00000189241 (gene set migration)
Additional findings_Paediatric v1.0 CASP10 Gene migrated from ENSG00000003400 to ENSG00000003400 (gene set migration)
Additional findings_Paediatric v1.0 CARS2 Gene migrated from ENSG00000134905 to ENSG00000134905 (gene set migration)
Additional findings_Paediatric v1.0 CACNB2 Gene migrated from ENSG00000165995 to ENSG00000165995 (gene set migration)
Additional findings_Paediatric v1.0 CACNA2D1 Gene migrated from ENSG00000153956 to ENSG00000153956 (gene set migration)
Additional findings_Paediatric v1.0 BRCA1 Gene migrated from ENSG00000012048 to ENSG00000012048 (gene set migration)
Additional findings_Paediatric v1.0 TSPEAR Gene migrated from ENSG00000175894 to ENSG00000175894 (gene set migration)
Additional findings_Paediatric v1.0 BPGM Gene migrated from ENSG00000172331 to ENSG00000172331 (gene set migration)
Additional findings_Paediatric v1.0 BNC2 Gene migrated from ENSG00000173068 to ENSG00000173068 (gene set migration)
Additional findings_Paediatric v1.0 H19 Gene migrated from ENSG00000130600 to ENSG00000130600 (gene set migration)
Additional findings_Paediatric v1.0 CACNA1S Gene migrated from ENSG00000081248 to ENSG00000081248 (gene set migration)
Additional findings_Paediatric v1.0 BANF1 Gene migrated from ENSG00000175334 to ENSG00000175334 (gene set migration)
Additional findings_Paediatric v1.0 BAG3 Gene migrated from ENSG00000151929 to ENSG00000151929 (gene set migration)
Additional findings_Paediatric v1.0 B9D2 Gene migrated from ENSG00000123810 to ENSG00000123810 (gene set migration)
Additional findings_Paediatric v1.0 MYH11 Gene migrated from ENSG00000133392 to ENSG00000133392 (gene set migration)
Additional findings_Paediatric v1.0 KCNE2 Gene migrated from ENSG00000159197 to ENSG00000159197 (gene set migration)
Additional findings_Paediatric v1.0 KCNE1 Gene migrated from ENSG00000180509 to ENSG00000180509 (gene set migration)
Additional findings_Paediatric v1.0 KCNA5 Gene migrated from ENSG00000130037 to ENSG00000130037 (gene set migration)
Additional findings_Paediatric v1.0 PCSK9 Gene migrated from ENSG00000169174 to ENSG00000169174 (gene set migration)
Additional findings_Paediatric v1.0 GPD1L Gene migrated from ENSG00000152642 to ENSG00000152642 (gene set migration)
Additional findings_Paediatric v1.0 GJA5 Gene migrated from ENSG00000265107 to ENSG00000265107 (gene set migration)
Additional findings_Paediatric v1.0 GCH1 Gene migrated from ENSG00000131979 to ENSG00000131979 (gene set migration)
Additional findings_Paediatric v1.0 DSP Gene migrated from ENSG00000096696 to ENSG00000096696 (gene set migration)
Additional findings_Paediatric v1.0 DSG2 Gene migrated from ENSG00000046604 to ENSG00000046604 (gene set migration)
Additional findings_Paediatric v1.0 DSC2 Gene migrated from ENSG00000134755 to ENSG00000134755 (gene set migration)
Additional findings_Paediatric v1.0 CACNA1C Gene migrated from ENSG00000151067 to ENSG00000151067 (gene set migration)
Additional findings_Paediatric v1.0 BMPR2 Gene migrated from ENSG00000204217 to ENSG00000204217 (gene set migration)
Additional findings_Paediatric v1.0 CRYAB Gene migrated from ENSG00000109846 to ENSG00000109846 (gene set migration)
Additional findings_Paediatric v1.0 AIP Gene migrated from ENSG00000110711 to ENSG00000110711 (gene set migration)
Additional findings_Paediatric v1.0 ACTA2 Gene migrated from ENSG00000107796 to ENSG00000107796 (gene set migration)
Additional findings_Paediatric v1.0 KRIT1 Gene migrated from ENSG00000001631 to ENSG00000001631 (gene set migration)
Additional findings_Paediatric v1.0 MYLK Gene migrated from ENSG00000065534 to ENSG00000065534 (gene set migration)
Additional findings_Paediatric v1.0 JUP Gene migrated from ENSG00000173801 to ENSG00000173801 (gene set migration)
Additional findings_Paediatric v1.0 WT1 Gene migrated from ENSG00000184937 to ENSG00000184937 (gene set migration)
Additional findings_Paediatric v1.0 MYL2 Gene migrated from ENSG00000111245 to ENSG00000111245 (gene set migration)
Additional findings_Paediatric v1.0 VWF Gene migrated from ENSG00000110799 to ENSG00000110799 (gene set migration)
Additional findings_Paediatric v1.0 TNNI3 Gene migrated from ENSG00000129991 to ENSG00000129991 (gene set migration)
Additional findings_Paediatric v1.0 TNNC1 Gene migrated from ENSG00000114854 to ENSG00000114854 (gene set migration)
Additional findings_Paediatric v1.0 TINF2 Gene migrated from ENSG00000092330 to ENSG00000092330 (gene set migration)
Additional findings_Paediatric v1.0 TERT Gene migrated from ENSG00000164362 to ENSG00000164362 (gene set migration)
Additional findings_Paediatric v1.0 TERC Gene migrated from ENSG00000270141 to ENSG00000270141 (gene set migration)
Additional findings_Paediatric v1.0 MYL3 Gene migrated from ENSG00000160808 to ENSG00000160808 (gene set migration)
Additional findings_Paediatric v1.0 PKP2 Gene migrated from ENSG00000057294 to ENSG00000057294 (gene set migration)
Additional findings_Paediatric v1.0 PHOX2B Gene migrated from ENSG00000109132 to ENSG00000109132 (gene set migration)
Additional findings_Paediatric v1.0 MTHFR Gene migrated from ENSG00000177000 to ENSG00000177000 (gene set migration)
Additional findings_Paediatric v1.0 NKX2-5 Gene migrated from ENSG00000183072 to ENSG00000183072 (gene set migration)
Additional findings_Paediatric v1.0 GABRG2 Gene migrated from ENSG00000113327 to ENSG00000113327 (gene set migration)
Additional findings_Paediatric v1.0 VCL Gene migrated from ENSG00000035403 to ENSG00000035403 (gene set migration)
Additional findings_Paediatric v1.0 TTN Gene migrated from ENSG00000155657 to ENSG00000155657 (gene set migration)
Additional findings_Paediatric v1.0 TPM1 Gene migrated from ENSG00000140416 to ENSG00000140416 (gene set migration)
Additional findings_Paediatric v1.0 TNNT2 Gene migrated from ENSG00000118194 to ENSG00000118194 (gene set migration)
Additional findings_Paediatric v1.0 SDHC Gene migrated from ENSG00000143252 to ENSG00000143252 (gene set migration)
Additional findings_Paediatric v1.0 SDHB Gene migrated from ENSG00000117118 to ENSG00000117118 (gene set migration)
Additional findings_Paediatric v1.0 SDHAF2 Gene migrated from ENSG00000167985 to ENSG00000167985 (gene set migration)
Additional findings_Paediatric v1.0 SCN5A Gene migrated from ENSG00000183873 to ENSG00000183873 (gene set migration)
Additional findings_Paediatric v1.0 RBM20 Gene migrated from ENSG00000203867 to ENSG00000203867 (gene set migration)
Additional findings_Paediatric v1.0 MCCC1 Gene migrated from ENSG00000078070 to ENSG00000078070 (gene set migration)
Additional findings_Paediatric v1.0 LMNA Gene migrated from ENSG00000160789 to ENSG00000160789 (gene set migration)
Additional findings_Paediatric v1.0 KCNQ1 Gene migrated from ENSG00000053918 to ENSG00000053918 (gene set migration)
Additional findings_Paediatric v1.0 KCNH2 Gene migrated from ENSG00000055118 to ENSG00000055118 (gene set migration)
Additional findings_Paediatric v1.0 DMD Gene migrated from ENSG00000198947 to ENSG00000198947 (gene set migration)
Additional findings_Paediatric v1.0 DKC1 Gene migrated from ENSG00000130826 to ENSG00000130826 (gene set migration)
Additional findings_Paediatric v1.0 DES Gene migrated from ENSG00000175084 to ENSG00000175084 (gene set migration)
Additional findings_Paediatric v1.0 CP Gene migrated from ENSG00000047457 to ENSG00000047457 (gene set migration)
Additional findings_Paediatric v1.0 CDKN2A Gene migrated from ENSG00000147889 to ENSG00000147889 (gene set migration)
Additional findings_Paediatric v1.0 COG5 Gene migrated from ENSG00000164597 to ENSG00000164597 (gene set migration)
Additional findings_Paediatric v1.0 MYBPC1 Gene migrated from ENSG00000196091 to ENSG00000196091 (gene set migration)
Additional findings_Paediatric v1.0 ATP7A Gene migrated from ENSG00000165240 to ENSG00000165240 (gene set migration)
Additional findings_Paediatric v1.0 ALDH7A1 Gene migrated from ENSG00000164904 to ENSG00000164904 (gene set migration)
Additional findings_Paediatric v1.0 ABCC2 Gene migrated from ENSG00000023839 to ENSG00000023839 (gene set migration)
Additional findings_Paediatric v1.0 PIGA Gene migrated from ENSG00000165195 to ENSG00000165195 (gene set migration)
Additional findings_Paediatric v1.0 KARS1 Gene symbol changed from KARS to KARS1 during gene set migration (ENSG00000065427 -> ENSG00000065427)
Additional findings_Paediatric v1.0 HARS2 Gene migrated from ENSG00000112855 to ENSG00000112855 (gene set migration)
Additional findings_Paediatric v1.0 MPDU1 Gene migrated from ENSG00000129255 to ENSG00000129255 (gene set migration)
Additional findings_Paediatric v1.0 DOLK Gene migrated from ENSG00000175283 to ENSG00000175283 (gene set migration)
Additional findings_Paediatric v1.0 IL7R Gene migrated from ENSG00000168685 to ENSG00000168685 (gene set migration)
Additional findings_Paediatric v1.0 FBP1 Gene migrated from ENSG00000165140 to ENSG00000165140 (gene set migration)
Additional findings_Paediatric v1.0 F7 Gene migrated from ENSG00000057593 to ENSG00000057593 (gene set migration)
Additional findings_Paediatric v1.0 HNF4A Gene migrated from ENSG00000101076 to ENSG00000101076 (gene set migration)
Additional findings_Paediatric v1.0 STAR Gene migrated from ENSG00000147465 to ENSG00000147465 (gene set migration)
Additional findings_Paediatric v1.0 GGCX Gene migrated from ENSG00000115486 to ENSG00000115486 (gene set migration)
Additional findings_Paediatric v1.0 GNS Gene migrated from ENSG00000135677 to ENSG00000135677 (gene set migration)
Additional findings_Paediatric v1.0 GNPTG Gene migrated from ENSG00000090581 to ENSG00000090581 (gene set migration)
Additional findings_Paediatric v1.0 GLUD1 Gene migrated from ENSG00000148672 to ENSG00000148672 (gene set migration)
Additional findings_Paediatric v1.0 GLB1 Gene migrated from ENSG00000170266 to ENSG00000170266 (gene set migration)
Additional findings_Paediatric v1.0 GLA Gene migrated from ENSG00000102393 to ENSG00000102393 (gene set migration)
Additional findings_Paediatric v1.0 GATA4 Gene migrated from ENSG00000136574 to ENSG00000136574 (gene set migration)
Additional findings_Paediatric v1.0 GALNS Gene migrated from ENSG00000141012 to ENSG00000141012 (gene set migration)
Additional findings_Paediatric v1.0 G6PC1 Gene symbol changed from G6PC to G6PC1 during gene set migration (ENSG00000131482 -> ENSG00000131482)
Additional findings_Paediatric v1.0 FOXP3 Gene migrated from ENSG00000049768 to ENSG00000049768 (gene set migration)
Additional findings_Paediatric v1.0 FKRP Gene migrated from ENSG00000181027 to ENSG00000181027 (gene set migration)
Additional findings_Paediatric v1.0 FANCI Gene migrated from ENSG00000140525 to ENSG00000140525 (gene set migration)
Additional findings_Paediatric v1.0 FANCG Gene migrated from ENSG00000221829 to ENSG00000221829 (gene set migration)
Additional findings_Paediatric v1.0 F9 Gene migrated from ENSG00000101981 to ENSG00000101981 (gene set migration)
Additional findings_Paediatric v1.0 F8 Gene migrated from ENSG00000185010 to ENSG00000185010 (gene set migration)
Additional findings_Paediatric v1.0 EVC Gene migrated from ENSG00000072840 to ENSG00000072840 (gene set migration)
Additional findings_Paediatric v1.0 ETHE1 Gene migrated from ENSG00000105755 to ENSG00000105755 (gene set migration)
Additional findings_Paediatric v1.0 ERCC2 Gene migrated from ENSG00000104884 to ENSG00000104884 (gene set migration)
Additional findings_Paediatric v1.0 EPM2A Gene migrated from ENSG00000112425 to ENSG00000112425 (gene set migration)
Additional findings_Paediatric v1.0 DOCK8 Gene migrated from ENSG00000107099 to ENSG00000107099 (gene set migration)
Additional findings_Paediatric v1.0 DNMT3B Gene migrated from ENSG00000088305 to ENSG00000088305 (gene set migration)
Additional findings_Paediatric v1.0 DLL3 Gene migrated from ENSG00000090932 to ENSG00000090932 (gene set migration)
Additional findings_Paediatric v1.0 DLD Gene migrated from ENSG00000091140 to ENSG00000091140 (gene set migration)
Additional findings_Paediatric v1.0 DHCR7 Gene migrated from ENSG00000172893 to ENSG00000172893 (gene set migration)
Additional findings_Paediatric v1.0 CYP11B1 Gene migrated from ENSG00000160882 to ENSG00000160882 (gene set migration)
Additional findings_Paediatric v1.0 CUL7 Gene migrated from ENSG00000044090 to ENSG00000044090 (gene set migration)
Additional findings_Paediatric v1.0 CUBN Gene migrated from ENSG00000107611 to ENSG00000107611 (gene set migration)
Additional findings_Paediatric v1.0 CRLF1 Gene migrated from ENSG00000006016 to ENSG00000006016 (gene set migration)
Additional findings_Paediatric v1.0 CREBBP Gene migrated from ENSG00000005339 to ENSG00000005339 (gene set migration)
Additional findings_Paediatric v1.0 COL5A2 Gene migrated from ENSG00000204262 to ENSG00000204262 (gene set migration)
Additional findings_Paediatric v1.0 COL5A1 Gene migrated from ENSG00000130635 to ENSG00000130635 (gene set migration)
Additional findings_Paediatric v1.0 COL2A1 Gene migrated from ENSG00000139219 to ENSG00000139219 (gene set migration)
Additional findings_Paediatric v1.0 COL11A2 Gene migrated from ENSG00000204248 to ENSG00000204248 (gene set migration)
Additional findings_Paediatric v1.0 COL11A1 Gene migrated from ENSG00000060718 to ENSG00000060718 (gene set migration)
Additional findings_Paediatric v1.0 CLDN14 Gene migrated from ENSG00000159261 to ENSG00000159261 (gene set migration)
Additional findings_Paediatric v1.0 CLCN5 Gene migrated from ENSG00000171365 to ENSG00000171365 (gene set migration)
Additional findings_Paediatric v1.0 CEP290 Gene migrated from ENSG00000198707 to ENSG00000198707 (gene set migration)
Additional findings_Paediatric v1.0 CEP152 Gene migrated from ENSG00000103995 to ENSG00000103995 (gene set migration)
Additional findings_Paediatric v1.0 CDKL5 Gene migrated from ENSG00000008086 to ENSG00000008086 (gene set migration)
Additional findings_Paediatric v1.0 CDH23 Gene migrated from ENSG00000107736 to ENSG00000107736 (gene set migration)
Additional findings_Paediatric v1.0 CASQ2 Gene migrated from ENSG00000118729 to ENSG00000118729 (gene set migration)
Additional findings_Paediatric v1.0 BLM Gene migrated from ENSG00000197299 to ENSG00000197299 (gene set migration)
Additional findings_Paediatric v1.0 BIN1 Gene migrated from ENSG00000136717 to ENSG00000136717 (gene set migration)
Additional findings_Paediatric v1.0 BBS12 Gene migrated from ENSG00000181004 to ENSG00000181004 (gene set migration)
Additional findings_Paediatric v1.0 BBS10 Gene migrated from ENSG00000179941 to ENSG00000179941 (gene set migration)
Additional findings_Paediatric v1.0 AVPR2 Gene migrated from ENSG00000126895 to ENSG00000126895 (gene set migration)
Additional findings_Paediatric v1.0 ATM Gene migrated from ENSG00000149311 to ENSG00000149311 (gene set migration)
Additional findings_Paediatric v1.0 ASL Gene migrated from ENSG00000126522 to ENSG00000126522 (gene set migration)
Additional findings_Paediatric v1.0 ANO10 Gene migrated from ENSG00000160746 to ENSG00000160746 (gene set migration)
Additional findings_Paediatric v1.0 ANKRD26 Gene migrated from ENSG00000107890 to ENSG00000107890 (gene set migration)
Additional findings_Paediatric v1.0 ALOXE3 Gene migrated from ENSG00000179148 to ENSG00000179148 (gene set migration)
Additional findings_Paediatric v1.0 ALOX12B Gene migrated from ENSG00000179477 to ENSG00000179477 (gene set migration)
Additional findings_Paediatric v1.0 ALDH3A2 Gene migrated from ENSG00000072210 to ENSG00000072210 (gene set migration)
Additional findings_Paediatric v1.0 ALDH18A1 Gene migrated from ENSG00000059573 to ENSG00000059573 (gene set migration)
Additional findings_Paediatric v1.0 ADAMTSL2 Gene migrated from ENSG00000197859 to ENSG00000197859 (gene set migration)
Additional findings_Paediatric v1.0 ADAMTS13 Gene migrated from ENSG00000160323 to ENSG00000160323 (gene set migration)
Additional findings_Paediatric v1.0 ACTN1 Gene migrated from ENSG00000072110 to ENSG00000072110 (gene set migration)
Additional findings_Paediatric v1.0 ABCD1 Gene migrated from ENSG00000101986 to ENSG00000101986 (gene set migration)
Additional findings_Paediatric v1.0 ABCB4 Gene migrated from ENSG00000005471 to ENSG00000005471 (gene set migration)
Additional findings_Paediatric v1.0 ABCB11 Gene migrated from ENSG00000073734 to ENSG00000073734 (gene set migration)
Additional findings_Paediatric v1.0 AARS1 Gene symbol changed from AARS to AARS1 during gene set migration (ENSG00000090861 -> ENSG00000090861)
Additional findings_Paediatric v1.0 AAAS Gene migrated from ENSG00000094914 to ENSG00000094914 (gene set migration)
Additional findings_Paediatric v1.0 SPTA1 Gene migrated from ENSG00000163554 to ENSG00000163554 (gene set migration)
Additional findings_Paediatric v1.0 ESPN Gene migrated from ENSG00000187017 to ENSG00000187017 (gene set migration)
Additional findings_Paediatric v1.0 SPRED1 Gene migrated from ENSG00000166068 to ENSG00000166068 (gene set migration)
Additional findings_Paediatric v1.0 PEX6 Gene migrated from ENSG00000124587 to ENSG00000124587 (gene set migration)
Additional findings_Paediatric v1.0 EDNRB Gene migrated from ENSG00000136160 to ENSG00000136160 (gene set migration)
Additional findings_Paediatric v1.0 SOX10 Gene migrated from ENSG00000100146 to ENSG00000100146 (gene set migration)
Additional findings_Paediatric v1.0 DUOXA2 Gene migrated from ENSG00000140274 to ENSG00000140274 (gene set migration)
Additional findings_Paediatric v1.0 SMPD1 Gene migrated from ENSG00000166311 to ENSG00000166311 (gene set migration)
Additional findings_Paediatric v1.0 SMARCAL1 Gene migrated from ENSG00000138375 to ENSG00000138375 (gene set migration)
Additional findings_Paediatric v1.0 SLC9A6 Gene migrated from ENSG00000198689 to ENSG00000198689 (gene set migration)
Additional findings_Paediatric v1.0 SLC6A5 Gene migrated from ENSG00000165970 to ENSG00000165970 (gene set migration)
Additional findings_Paediatric v1.0 SLC5A5 Gene migrated from ENSG00000105641 to ENSG00000105641 (gene set migration)
Additional findings_Paediatric v1.0 SLC5A2 Gene migrated from ENSG00000140675 to ENSG00000140675 (gene set migration)
Additional findings_Paediatric v1.0 SLC45A2 Gene migrated from ENSG00000164175 to ENSG00000164175 (gene set migration)
Additional findings_Paediatric v1.0 SLC39A4 Gene migrated from ENSG00000147804 to ENSG00000147804 (gene set migration)
Additional findings_Paediatric v1.0 SLC35D1 Gene migrated from ENSG00000116704 to ENSG00000116704 (gene set migration)
Additional findings_Paediatric v1.0 SLC2A10 Gene migrated from ENSG00000197496 to ENSG00000197496 (gene set migration)
Additional findings_Paediatric v1.0 SLC26A4 Gene migrated from ENSG00000091137 to ENSG00000091137 (gene set migration)
Additional findings_Paediatric v1.0 SLC26A3 Gene migrated from ENSG00000091138 to ENSG00000091138 (gene set migration)
Additional findings_Paediatric v1.0 SLC25A38 Gene migrated from ENSG00000144659 to ENSG00000144659 (gene set migration)
Additional findings_Paediatric v1.0 SLC25A15 Gene migrated from ENSG00000102743 to ENSG00000102743 (gene set migration)
Additional findings_Paediatric v1.0 SLC19A3 Gene migrated from ENSG00000135917 to ENSG00000135917 (gene set migration)
Additional findings_Paediatric v1.0 SLC16A2 Gene migrated from ENSG00000147100 to ENSG00000147100 (gene set migration)
Additional findings_Paediatric v1.0 SLC12A3 Gene migrated from ENSG00000070915 to ENSG00000070915 (gene set migration)
Additional findings_Paediatric v1.0 SIX1 Gene migrated from ENSG00000126778 to ENSG00000126778 (gene set migration)
Additional findings_Paediatric v1.0 SIL1 Gene migrated from ENSG00000120725 to ENSG00000120725 (gene set migration)
Additional findings_Paediatric v1.0 SHH Gene migrated from ENSG00000164690 to ENSG00000164690 (gene set migration)
Additional findings_Paediatric v1.0 SGCG Gene migrated from ENSG00000102683 to ENSG00000102683 (gene set migration)
Additional findings_Paediatric v1.0 CLPP Gene migrated from ENSG00000125656 to ENSG00000125656 (gene set migration)
Additional findings_Paediatric v1.0 SPEG Gene migrated from ENSG00000072195 to ENSG00000072195 (gene set migration)
Additional findings_Paediatric v1.0 TMC1 Gene migrated from ENSG00000165091 to ENSG00000165091 (gene set migration)
Additional findings_Paediatric v1.0 SETBP1 Gene migrated from ENSG00000152217 to ENSG00000152217 (gene set migration)
Additional findings_Paediatric v1.0 SEPTIN9 Gene symbol changed from SEPT9 to SEPTIN9 during gene set migration (ENSG00000184640 -> ENSG00000184640)
Additional findings_Paediatric v1.0 SDHD Gene migrated from ENSG00000204370 to ENSG00000204370 (gene set migration)
Additional findings_Paediatric v1.0 SCO2 Gene migrated from ENSG00000130489 to ENSG00000284194 (gene set migration)
Additional findings_Paediatric v1.0 SCN1A Gene migrated from ENSG00000144285 to ENSG00000144285 (gene set migration)
Additional findings_Paediatric v1.0 SALL1 Gene migrated from ENSG00000103449 to ENSG00000103449 (gene set migration)
Additional findings_Paediatric v1.0 RSPH4A Gene migrated from ENSG00000111834 to ENSG00000111834 (gene set migration)
Additional findings_Paediatric v1.0 SFTPC Gene migrated from ENSG00000168484 to ENSG00000168484 (gene set migration)
Additional findings_Paediatric v1.0 SGCD Gene migrated from ENSG00000170624 to ENSG00000170624 (gene set migration)
Additional findings_Paediatric v1.0 RPS6KA3 Gene migrated from ENSG00000177189 to ENSG00000177189 (gene set migration)
Additional findings_Paediatric v1.0 RPS24 Gene migrated from ENSG00000138326 to ENSG00000138326 (gene set migration)
Additional findings_Paediatric v1.0 RPS15 Gene migrated from ENSG00000115268 to ENSG00000115268 (gene set migration)
Additional findings_Paediatric v1.0 SCNN1B Gene migrated from ENSG00000168447 to ENSG00000168447 (gene set migration)
Additional findings_Paediatric v1.0 RPGR Gene migrated from ENSG00000156313 to ENSG00000156313 (gene set migration)
Additional findings_Paediatric v1.0 RNASEH2C Gene migrated from ENSG00000172922 to ENSG00000172922 (gene set migration)
Additional findings_Paediatric v1.0 BSCL2 Gene migrated from ENSG00000168000 to ENSG00000168000 (gene set migration)
Additional findings_Paediatric v1.0 RMRP Gene migrated from ENSG00000269900 to ENSG00000277027 (gene set migration)
Additional findings_Paediatric v1.0 REN Gene migrated from ENSG00000143839 to ENSG00000143839 (gene set migration)
Additional findings_Paediatric v1.0 RYR1 Gene migrated from ENSG00000196218 to ENSG00000196218 (gene set migration)
Additional findings_Paediatric v1.0 RB1 Gene migrated from ENSG00000139687 to ENSG00000139687 (gene set migration)
Additional findings_Paediatric v1.0 RAI1 Gene migrated from ENSG00000108557 to ENSG00000108557 (gene set migration)
Additional findings_Paediatric v1.0 RAF1 Gene migrated from ENSG00000132155 to ENSG00000132155 (gene set migration)
Additional findings_Paediatric v1.0 CABP2 Gene migrated from ENSG00000167791 to ENSG00000167791 (gene set migration)
Additional findings_Paediatric v1.0 RAB23 Gene migrated from ENSG00000112210 to ENSG00000112210 (gene set migration)
Additional findings_Paediatric v1.0 CAVIN1 Gene migrated from ENSG00000177469 to ENSG00000177469 (gene set migration)
Additional findings_Paediatric v1.0 PTEN Gene migrated from ENSG00000171862 to ENSG00000171862 (gene set migration)
Additional findings_Paediatric v1.0 PTH1R Gene migrated from ENSG00000160801 to ENSG00000160801 (gene set migration)
Additional findings_Paediatric v1.0 PROP1 Gene migrated from ENSG00000175325 to ENSG00000175325 (gene set migration)
Additional findings_Paediatric v1.0 PROKR2 Gene migrated from ENSG00000101292 to ENSG00000101292 (gene set migration)
Additional findings_Paediatric v1.0 PROC Gene migrated from ENSG00000115718 to ENSG00000115718 (gene set migration)
Additional findings_Paediatric v1.0 PRKAR1A Gene migrated from ENSG00000108946 to ENSG00000108946 (gene set migration)
Additional findings_Paediatric v1.0 PRF1 Gene migrated from ENSG00000180644 to ENSG00000180644 (gene set migration)
Additional findings_Paediatric v1.0 PQBP1 Gene migrated from ENSG00000102103 to ENSG00000102103 (gene set migration)
Additional findings_Paediatric v1.0 PPT1 Gene migrated from ENSG00000131238 to ENSG00000131238 (gene set migration)
Additional findings_Paediatric v1.0 APRT Gene migrated from ENSG00000198931 to ENSG00000198931 (gene set migration)
Additional findings_Paediatric v1.0 POU4F3 Gene migrated from ENSG00000091010 to ENSG00000091010 (gene set migration)
Additional findings_Paediatric v1.0 POU3F4 Gene migrated from ENSG00000196767 to ENSG00000196767 (gene set migration)
Additional findings_Paediatric v1.0 POU1F1 Gene migrated from ENSG00000064835 to ENSG00000064835 (gene set migration)
Additional findings_Paediatric v1.0 WHRN Gene migrated from ENSG00000095397 to ENSG00000095397 (gene set migration)
Additional findings_Paediatric v1.0 PORCN Gene migrated from ENSG00000102312 to ENSG00000102312 (gene set migration)
Additional findings_Paediatric v1.0 POR Gene migrated from ENSG00000127948 to ENSG00000127948 (gene set migration)
Additional findings_Paediatric v1.0 POMGNT1 Gene migrated from ENSG00000085998 to ENSG00000085998 (gene set migration)
Additional findings_Paediatric v1.0 POLG Gene migrated from ENSG00000140521 to ENSG00000140521 (gene set migration)
Additional findings_Paediatric v1.0 PNKP Gene migrated from ENSG00000039650 to ENSG00000039650 (gene set migration)
Additional findings_Paediatric v1.0 PMM2 Gene migrated from ENSG00000140650 to ENSG00000140650 (gene set migration)
Additional findings_Paediatric v1.0 PLEC Gene migrated from ENSG00000178209 to ENSG00000178209 (gene set migration)
Additional findings_Paediatric v1.0 PKLR Gene migrated from ENSG00000143627 to ENSG00000143627 (gene set migration)
Additional findings_Paediatric v1.0 NEK8 Gene migrated from ENSG00000160602 to ENSG00000160602 (gene set migration)
Additional findings_Paediatric v1.0 PKD2 Gene migrated from ENSG00000118762 to ENSG00000118762 (gene set migration)
Additional findings_Paediatric v1.0 PIEZO2 Gene migrated from ENSG00000154864 to ENSG00000154864 (gene set migration)
Additional findings_Paediatric v1.0 PHKB Gene migrated from ENSG00000102893 to ENSG00000102893 (gene set migration)
Additional findings_Paediatric v1.0 TMEM67 Gene migrated from ENSG00000164953 to ENSG00000164953 (gene set migration)
Additional findings_Paediatric v1.0 PFKM Gene migrated from ENSG00000152556 to ENSG00000152556 (gene set migration)
Additional findings_Paediatric v1.0 TIMM8A Gene migrated from ENSG00000126953 to ENSG00000126953 (gene set migration)
Additional findings_Paediatric v1.0 TH Gene migrated from ENSG00000180176 to ENSG00000180176 (gene set migration)
Additional findings_Paediatric v1.0 TGM5 Gene migrated from ENSG00000104055 to ENSG00000104055 (gene set migration)
Additional findings_Paediatric v1.0 TGM1 Gene migrated from ENSG00000092295 to ENSG00000092295 (gene set migration)
Additional findings_Paediatric v1.0 TECTA Gene migrated from ENSG00000109927 to ENSG00000109927 (gene set migration)
Additional findings_Paediatric v1.0 TCOF1 Gene migrated from ENSG00000070814 to ENSG00000070814 (gene set migration)
Additional findings_Paediatric v1.0 TCIRG1 Gene migrated from ENSG00000110719 to ENSG00000110719 (gene set migration)
Additional findings_Paediatric v1.0 TAT Gene migrated from ENSG00000198650 to ENSG00000198650 (gene set migration)
Additional findings_Paediatric v1.0 SURF1 Gene migrated from ENSG00000148290 to ENSG00000148290 (gene set migration)
Additional findings_Paediatric v1.0 SUOX Gene migrated from ENSG00000139531 to ENSG00000139531 (gene set migration)
Additional findings_Paediatric v1.0 STS Gene migrated from ENSG00000101846 to ENSG00000101846 (gene set migration)
Additional findings_Paediatric v1.0 STRC Gene migrated from ENSG00000242866 to ENSG00000242866 (gene set migration)
Additional findings_Paediatric v1.0 MYH7 Gene migrated from ENSG00000092054 to ENSG00000092054 (gene set migration)
Additional findings_Paediatric v1.0 STRA6 Gene migrated from ENSG00000137868 to ENSG00000137868 (gene set migration)
Additional findings_Paediatric v1.0 KLF1 Gene migrated from ENSG00000105610 to ENSG00000105610 (gene set migration)
Additional findings_Paediatric v1.0 ANK2 Gene migrated from ENSG00000145362 to ENSG00000145362 (gene set migration)
Additional findings_Paediatric v1.0 PLG Gene migrated from ENSG00000122194 to ENSG00000122194 (gene set migration)
Additional findings_Paediatric v1.0 PEX1 Gene migrated from ENSG00000127980 to ENSG00000127980 (gene set migration)
Additional findings_Paediatric v1.0 ZNF469 Gene migrated from ENSG00000225614 to ENSG00000225614 (gene set migration)
Additional findings_Paediatric v1.0 ZMPSTE24 Gene migrated from ENSG00000084073 to ENSG00000084073 (gene set migration)
Additional findings_Paediatric v1.0 ZIC3 Gene migrated from ENSG00000156925 to ENSG00000156925 (gene set migration)
Additional findings_Paediatric v1.0 ZIC2 Gene migrated from ENSG00000043355 to ENSG00000043355 (gene set migration)
Additional findings_Paediatric v1.0 WAS Gene migrated from ENSG00000015285 to ENSG00000015285 (gene set migration)
Additional findings_Paediatric v1.0 VPS33B Gene migrated from ENSG00000184056 to ENSG00000184056 (gene set migration)
Additional findings_Paediatric v1.0 VPS13B Gene migrated from ENSG00000132549 to ENSG00000132549 (gene set migration)
Additional findings_Paediatric v1.0 VPS13A Gene migrated from ENSG00000197969 to ENSG00000197969 (gene set migration)
Additional findings_Paediatric v1.0 VLDLR Gene migrated from ENSG00000147852 to ENSG00000147852 (gene set migration)
Additional findings_Paediatric v1.0 IYD Gene migrated from ENSG00000009765 to ENSG00000009765 (gene set migration)
Additional findings_Paediatric v1.0 UNC13D Gene migrated from ENSG00000092929 to ENSG00000092929 (gene set migration)
Additional findings_Paediatric v1.0 UMOD Gene migrated from ENSG00000169344 to ENSG00000169344 (gene set migration)
Additional findings_Paediatric v1.0 UGT1A1 Gene migrated from ENSG00000241635 to ENSG00000241635 (gene set migration)
Additional findings_Paediatric v1.0 UBR1 Gene migrated from ENSG00000159459 to ENSG00000159459 (gene set migration)
Additional findings_Paediatric v1.0 TYR Gene migrated from ENSG00000077498 to ENSG00000077498 (gene set migration)
Additional findings_Paediatric v1.0 TSC1 Gene migrated from ENSG00000165699 to ENSG00000165699 (gene set migration)
Additional findings_Paediatric v1.0 TRPM4 Gene migrated from ENSG00000130529 to ENSG00000130529 (gene set migration)
Additional findings_Paediatric v1.0 TRMU Gene migrated from ENSG00000100416 to ENSG00000100416 (gene set migration)
Additional findings_Paediatric v1.0 TRIOBP Gene migrated from ENSG00000100106 to ENSG00000100106 (gene set migration)
Additional findings_Paediatric v1.0 TTC7A Gene migrated from ENSG00000068724 to ENSG00000068724 (gene set migration)
Additional findings_Paediatric v1.0 TREX1 Gene migrated from ENSG00000213689 to ENSG00000213689 (gene set migration)
Additional findings_Paediatric v1.0 TPP1 Gene migrated from ENSG00000166340 to ENSG00000166340 (gene set migration)
Additional findings_Paediatric v1.0 TPM2 Gene migrated from ENSG00000198467 to ENSG00000198467 (gene set migration)
Additional findings_Paediatric v1.0 TNNT3 Gene migrated from ENSG00000130595 to ENSG00000130595 (gene set migration)
Additional findings_Paediatric v1.0 TNNI2 Gene migrated from ENSG00000130598 to ENSG00000130598 (gene set migration)
Additional findings_Paediatric v1.0 TMIE Gene migrated from ENSG00000181585 to ENSG00000181585 (gene set migration)
Additional findings_Paediatric v1.0 TK2 Gene migrated from ENSG00000166548 to ENSG00000166548 (gene set migration)
Additional findings_Paediatric v1.0 OTC Gene migrated from ENSG00000036473 to ENSG00000036473 (gene set migration)
Additional findings_Paediatric v1.0 OSTM1 Gene migrated from ENSG00000081087 to ENSG00000081087 (gene set migration)
Additional findings_Paediatric v1.0 OSMR Gene migrated from ENSG00000145623 to ENSG00000145623 (gene set migration)
Additional findings_Paediatric v1.0 ORC1 Gene migrated from ENSG00000085840 to ENSG00000085840 (gene set migration)
Additional findings_Paediatric v1.0 OPA1 Gene migrated from ENSG00000198836 to ENSG00000198836 (gene set migration)
Additional findings_Paediatric v1.0 OFD1 Gene migrated from ENSG00000046651 to ENSG00000046651 (gene set migration)
Additional findings_Paediatric v1.0 OCRL Gene migrated from ENSG00000122126 to ENSG00000122126 (gene set migration)
Additional findings_Paediatric v1.0 OCA2 Gene migrated from ENSG00000104044 to ENSG00000104044 (gene set migration)
Additional findings_Paediatric v1.0 OBSL1 Gene migrated from ENSG00000124006 to ENSG00000124006 (gene set migration)
Additional findings_Paediatric v1.0 PC Gene migrated from ENSG00000173599 to ENSG00000173599 (gene set migration)
Additional findings_Paediatric v1.0 NSD1 Gene migrated from ENSG00000165671 to ENSG00000165671 (gene set migration)
Additional findings_Paediatric v1.0 NR0B1 Gene migrated from ENSG00000169297 to ENSG00000169297 (gene set migration)
Additional findings_Paediatric v1.0 NPHS1 Gene migrated from ENSG00000161270 to ENSG00000161270 (gene set migration)
Additional findings_Paediatric v1.0 NPHP4 Gene migrated from ENSG00000131697 to ENSG00000131697 (gene set migration)
Additional findings_Paediatric v1.0 NPHP3 Gene migrated from ENSG00000113971 to ENSG00000113971 (gene set migration)
Additional findings_Paediatric v1.0 NPC2 Gene migrated from ENSG00000119655 to ENSG00000119655 (gene set migration)
Additional findings_Paediatric v1.0 NPC1 Gene migrated from ENSG00000141458 to ENSG00000141458 (gene set migration)
Additional findings_Paediatric v1.0 NOTCH3 Gene migrated from ENSG00000074181 to ENSG00000074181 (gene set migration)
Additional findings_Paediatric v1.0 NOTCH2 Gene migrated from ENSG00000134250 to ENSG00000134250 (gene set migration)
Additional findings_Paediatric v1.0 NOG Gene migrated from ENSG00000183691 to ENSG00000183691 (gene set migration)
Additional findings_Paediatric v1.0 NKX2-1 Gene migrated from ENSG00000136352 to ENSG00000136352 (gene set migration)
Additional findings_Paediatric v1.0 NIPBL Gene migrated from ENSG00000164190 to ENSG00000164190 (gene set migration)
Additional findings_Paediatric v1.0 NIPAL4 Gene migrated from ENSG00000172548 to ENSG00000172548 (gene set migration)
Additional findings_Paediatric v1.0 NHLRC1 Gene migrated from ENSG00000187566 to ENSG00000187566 (gene set migration)
Additional findings_Paediatric v1.0 EPS8L2 Gene migrated from ENSG00000177106 to ENSG00000177106 (gene set migration)
Additional findings_Paediatric v1.0 COL9A1 Gene migrated from ENSG00000112280 to ENSG00000112280 (gene set migration)
Additional findings_Paediatric v1.0 NHEJ1 Gene migrated from ENSG00000187736 to ENSG00000187736 (gene set migration)
Additional findings_Paediatric v1.0 NGLY1 Gene migrated from ENSG00000151092 to ENSG00000151092 (gene set migration)
Additional findings_Paediatric v1.0 NF2 Gene migrated from ENSG00000186575 to ENSG00000186575 (gene set migration)
Additional findings_Paediatric v1.0 NF1 Gene migrated from ENSG00000196712 to ENSG00000196712 (gene set migration)
Additional findings_Paediatric v1.0 NEU1 Gene migrated from ENSG00000204386 to ENSG00000204386 (gene set migration)
Additional findings_Paediatric v1.0 NEFL Gene migrated from ENSG00000277586 to ENSG00000277586 (gene set migration)
Additional findings_Paediatric v1.0 NEB Gene migrated from ENSG00000183091 to ENSG00000183091 (gene set migration)
Additional findings_Paediatric v1.0 RAG2 Gene migrated from ENSG00000175097 to ENSG00000175097 (gene set migration)
Additional findings_Paediatric v1.0 NDP Gene migrated from ENSG00000124479 to ENSG00000124479 (gene set migration)
Additional findings_Paediatric v1.0 NCF2 Gene migrated from ENSG00000116701 to ENSG00000116701 (gene set migration)
Additional findings_Paediatric v1.0 NCF1 Gene migrated from ENSG00000158517 to ENSG00000158517 (gene set migration)
Additional findings_Paediatric v1.0 NPHP1 Gene migrated from ENSG00000144061 to ENSG00000144061 (gene set migration)
Additional findings_Paediatric v1.0 NBN Gene migrated from ENSG00000104320 to ENSG00000104320 (gene set migration)
Additional findings_Paediatric v1.0 NAGS Gene migrated from ENSG00000161653 to ENSG00000161653 (gene set migration)
Additional findings_Paediatric v1.0 NAGLU Gene migrated from ENSG00000108784 to ENSG00000108784 (gene set migration)
Additional findings_Paediatric v1.0 NAGA Gene migrated from ENSG00000198951 to ENSG00000198951 (gene set migration)
Additional findings_Paediatric v1.0 MYO7A Gene migrated from ENSG00000137474 to ENSG00000137474 (gene set migration)
Additional findings_Paediatric v1.0 MYO6 Gene migrated from ENSG00000196586 to ENSG00000196586 (gene set migration)
Additional findings_Paediatric v1.0 MYO3A Gene migrated from ENSG00000095777 to ENSG00000095777 (gene set migration)
Additional findings_Paediatric v1.0 MYO15A Gene migrated from ENSG00000091536 to ENSG00000091536 (gene set migration)
Additional findings_Paediatric v1.0 MYH9 Gene migrated from ENSG00000100345 to ENSG00000100345 (gene set migration)
Additional findings_Paediatric v1.0 EDN3 Gene migrated from ENSG00000124205 to ENSG00000124205 (gene set migration)
Additional findings_Paediatric v1.0 MYH3 Gene migrated from ENSG00000109063 to ENSG00000109063 (gene set migration)
Additional findings_Paediatric v1.0 MYH2 Gene migrated from ENSG00000125414 to ENSG00000125414 (gene set migration)
Additional findings_Paediatric v1.0 DIAPH1 Gene migrated from ENSG00000131504 to ENSG00000131504 (gene set migration)
Additional findings_Paediatric v1.0 MYH14 Gene migrated from ENSG00000105357 to ENSG00000105357 (gene set migration)
Additional findings_Paediatric v1.0 MYCN Gene migrated from ENSG00000134323 to ENSG00000134323 (gene set migration)
Additional findings_Paediatric v1.0 MVK Gene migrated from ENSG00000110921 to ENSG00000110921 (gene set migration)
Additional findings_Paediatric v1.0 MUTYH Gene migrated from ENSG00000132781 to ENSG00000132781 (gene set migration)
Additional findings_Paediatric v1.0 MMUT Gene symbol changed from MUT to MMUT during gene set migration (ENSG00000146085 -> ENSG00000146085)
Additional findings_Paediatric v1.0 MUSK Gene migrated from ENSG00000030304 to ENSG00000030304 (gene set migration)
Additional findings_Paediatric v1.0 MTTP Gene migrated from ENSG00000138823 to ENSG00000138823 (gene set migration)
Additional findings_Paediatric v1.0 MTRR Gene migrated from ENSG00000124275 to ENSG00000124275 (gene set migration)
Additional findings_Paediatric v1.0 MTR Gene migrated from ENSG00000116984 to ENSG00000116984 (gene set migration)
Additional findings_Paediatric v1.0 MTM1 Gene migrated from ENSG00000171100 to ENSG00000171100 (gene set migration)
Additional findings_Paediatric v1.0 MSX2 Gene migrated from ENSG00000120149 to ENSG00000120149 (gene set migration)
Additional findings_Paediatric v1.0 MPZ Gene migrated from ENSG00000158887 to ENSG00000158887 (gene set migration)
Additional findings_Paediatric v1.0 MPV17 Gene migrated from ENSG00000115204 to ENSG00000115204 (gene set migration)
Additional findings_Paediatric v1.0 MPL Gene migrated from ENSG00000117400 to ENSG00000117400 (gene set migration)
Additional findings_Paediatric v1.0 MPI Gene migrated from ENSG00000178802 to ENSG00000178802 (gene set migration)
Additional findings_Paediatric v1.0 MOCS2 Gene migrated from ENSG00000164172 to ENSG00000164172 (gene set migration)
Additional findings_Paediatric v1.0 MOCS1 Gene migrated from ENSG00000124615 to ENSG00000124615 (gene set migration)
Additional findings_Paediatric v1.0 MMADHC Gene migrated from ENSG00000168288 to ENSG00000168288 (gene set migration)
Additional findings_Paediatric v1.0 MMACHC Gene migrated from ENSG00000132763 to ENSG00000132763 (gene set migration)
Additional findings_Paediatric v1.0 MMAB Gene migrated from ENSG00000139428 to ENSG00000139428 (gene set migration)
Additional findings_Paediatric v1.0 MMAA Gene migrated from ENSG00000151611 to ENSG00000151611 (gene set migration)
Additional findings_Paediatric v1.0 MLYCD Gene migrated from ENSG00000103150 to ENSG00000103150 (gene set migration)
Additional findings_Paediatric v1.0 MLC1 Gene migrated from ENSG00000100427 to ENSG00000100427 (gene set migration)
Additional findings_Paediatric v1.0 MKS1 Gene migrated from ENSG00000011143 to ENSG00000011143 (gene set migration)
Additional findings_Paediatric v1.0 MKKS Gene migrated from ENSG00000125863 to ENSG00000125863 (gene set migration)
Additional findings_Paediatric v1.0 MITF Gene migrated from ENSG00000187098 to ENSG00000187098 (gene set migration)
Additional findings_Paediatric v1.0 DMXL2 Gene migrated from ENSG00000104093 to ENSG00000104093 (gene set migration)
Additional findings_Paediatric v1.0 MGP Gene migrated from ENSG00000111341 to ENSG00000111341 (gene set migration)
Additional findings_Paediatric v1.0 MFSD8 Gene migrated from ENSG00000164073 to ENSG00000164073 (gene set migration)
Additional findings_Paediatric v1.0 MFN2 Gene migrated from ENSG00000116688 to ENSG00000116688 (gene set migration)
Additional findings_Paediatric v1.0 MEN1 Gene migrated from ENSG00000133895 to ENSG00000133895 (gene set migration)
Additional findings_Paediatric v1.0 MEGF10 Gene migrated from ENSG00000145794 to ENSG00000145794 (gene set migration)
Additional findings_Paediatric v1.0 MEFV Gene migrated from ENSG00000103313 to ENSG00000103313 (gene set migration)
Additional findings_Paediatric v1.0 MED12 Gene migrated from ENSG00000184634 to ENSG00000184634 (gene set migration)
Additional findings_Paediatric v1.0 MECP2 Gene migrated from ENSG00000169057 to ENSG00000169057 (gene set migration)
Additional findings_Paediatric v1.0 MCPH1 Gene migrated from ENSG00000147316 to ENSG00000147316 (gene set migration)
Additional findings_Paediatric v1.0 MCOLN1 Gene migrated from ENSG00000090674 to ENSG00000090674 (gene set migration)
Additional findings_Paediatric v1.0 MCFD2 Gene migrated from ENSG00000180398 to ENSG00000180398 (gene set migration)
Additional findings_Paediatric v1.0 MBTPS2 Gene migrated from ENSG00000012174 to ENSG00000012174 (gene set migration)
Additional findings_Paediatric v1.0 MARVELD2 Gene migrated from ENSG00000152939 to ENSG00000152939 (gene set migration)
Additional findings_Paediatric v1.0 MAP2K2 Gene migrated from ENSG00000126934 to ENSG00000126934 (gene set migration)
Additional findings_Paediatric v1.0 MAP2K1 Gene migrated from ENSG00000169032 to ENSG00000169032 (gene set migration)
Additional findings_Paediatric v1.0 MAN2B1 Gene migrated from ENSG00000104774 to ENSG00000104774 (gene set migration)
Additional findings_Paediatric v1.0 MAGI2 Gene migrated from ENSG00000187391 to ENSG00000187391 (gene set migration)
Additional findings_Paediatric v1.0 MAFB Gene migrated from ENSG00000204103 to ENSG00000204103 (gene set migration)
Additional findings_Paediatric v1.0 LYST Gene migrated from ENSG00000143669 to ENSG00000143669 (gene set migration)
Additional findings_Paediatric v1.0 LTBP4 Gene migrated from ENSG00000090006 to ENSG00000090006 (gene set migration)
Additional findings_Paediatric v1.0 LRTOMT Gene migrated from ENSG00000184154 to ENSG00000284922 (gene set migration)
Additional findings_Paediatric v1.0 LRSAM1 Gene migrated from ENSG00000148356 to ENSG00000148356 (gene set migration)
Additional findings_Paediatric v1.0 DNAAF11 Gene symbol changed from LRRC6 to DNAAF11 during gene set migration (ENSG00000129295 -> ENSG00000129295)
Additional findings_Paediatric v1.0 LRPPRC Gene migrated from ENSG00000138095 to ENSG00000138095 (gene set migration)
Additional findings_Paediatric v1.0 LRP5 Gene migrated from ENSG00000162337 to ENSG00000162337 (gene set migration)
Additional findings_Paediatric v1.0 LRP4 Gene migrated from ENSG00000134569 to ENSG00000134569 (gene set migration)
Additional findings_Paediatric v1.0 LRP2 Gene migrated from ENSG00000081479 to ENSG00000081479 (gene set migration)
Additional findings_Paediatric v1.0 LOXHD1 Gene migrated from ENSG00000167210 to ENSG00000167210 (gene set migration)
Additional findings_Paediatric v1.0 LMX1B Gene migrated from ENSG00000136944 to ENSG00000136944 (gene set migration)
Additional findings_Paediatric v1.0 LMOD3 Gene migrated from ENSG00000163380 to ENSG00000163380 (gene set migration)
Additional findings_Paediatric v1.0 COCH Gene migrated from ENSG00000100473 to ENSG00000100473 (gene set migration)
Additional findings_Paediatric v1.0 AP4B1 Gene migrated from ENSG00000134262 to ENSG00000134262 (gene set migration)
Additional findings_Paediatric v1.0 LMBRD1 Gene migrated from ENSG00000168216 to ENSG00000168216 (gene set migration)
Additional findings_Paediatric v1.0 LITAF Gene migrated from ENSG00000189067 to ENSG00000189067 (gene set migration)
Additional findings_Paediatric v1.0 LIPA Gene migrated from ENSG00000107798 to ENSG00000107798 (gene set migration)
Additional findings_Paediatric v1.0 LIG4 Gene migrated from ENSG00000174405 to ENSG00000174405 (gene set migration)
Additional findings_Paediatric v1.0 LIFR Gene migrated from ENSG00000113594 to ENSG00000113594 (gene set migration)
Additional findings_Paediatric v1.0 LHX3 Gene migrated from ENSG00000107187 to ENSG00000107187 (gene set migration)
Additional findings_Paediatric v1.0 AP4M1 Gene migrated from ENSG00000221838 to ENSG00000221838 (gene set migration)
Additional findings_Paediatric v1.0 LHFPL5 Gene migrated from ENSG00000197753 to ENSG00000197753 (gene set migration)
Additional findings_Paediatric v1.0 LEPR Gene migrated from ENSG00000116678 to ENSG00000116678 (gene set migration)
Additional findings_Paediatric v1.0 LDLR Gene migrated from ENSG00000130164 to ENSG00000130164 (gene set migration)
Additional findings_Paediatric v1.0 LARGE1 Gene migrated from ENSG00000133424 to ENSG00000133424 (gene set migration)
Additional findings_Paediatric v1.0 LAMP2 Gene migrated from ENSG00000005893 to ENSG00000005893 (gene set migration)
Additional findings_Paediatric v1.0 LAMC2 Gene migrated from ENSG00000058085 to ENSG00000058085 (gene set migration)
Additional findings_Paediatric v1.0 LAMB3 Gene migrated from ENSG00000196878 to ENSG00000196878 (gene set migration)
Additional findings_Paediatric v1.0 LAMB2 Gene migrated from ENSG00000172037 to ENSG00000172037 (gene set migration)
Additional findings_Paediatric v1.0 LAMA3 Gene migrated from ENSG00000053747 to ENSG00000053747 (gene set migration)
Additional findings_Paediatric v1.0 LAMA2 Gene migrated from ENSG00000196569 to ENSG00000196569 (gene set migration)
Additional findings_Paediatric v1.0 L1CAM Gene migrated from ENSG00000198910 to ENSG00000198910 (gene set migration)
Additional findings_Paediatric v1.0 KRT6A Gene migrated from ENSG00000205420 to ENSG00000205420 (gene set migration)
Additional findings_Paediatric v1.0 FRAS1 Gene migrated from ENSG00000138759 to ENSG00000138759 (gene set migration)
Additional findings_Paediatric v1.0 KRT5 Gene migrated from ENSG00000186081 to ENSG00000186081 (gene set migration)
Additional findings_Paediatric v1.0 KRT17 Gene migrated from ENSG00000128422 to ENSG00000128422 (gene set migration)
Additional findings_Paediatric v1.0 KRT16 Gene migrated from ENSG00000186832 to ENSG00000186832 (gene set migration)
Additional findings_Paediatric v1.0 AP4E1 Gene migrated from ENSG00000081014 to ENSG00000081014 (gene set migration)
Additional findings_Paediatric v1.0 BCHE Gene migrated from ENSG00000114200 to ENSG00000114200 (gene set migration)
Additional findings_Paediatric v1.0 KRT14 Gene migrated from ENSG00000186847 to ENSG00000186847 (gene set migration)
Additional findings_Paediatric v1.0 PLS1 Gene migrated from ENSG00000120756 to ENSG00000120756 (gene set migration)
Additional findings_Paediatric v1.0 KRAS Gene migrated from ENSG00000133703 to ENSG00000133703 (gene set migration)
Additional findings_Paediatric v1.0 KMT2D Gene migrated from ENSG00000167548 to ENSG00000167548 (gene set migration)
Additional findings_Paediatric v1.0 KLHL41 Gene migrated from ENSG00000239474 to ENSG00000239474 (gene set migration)
Additional findings_Paediatric v1.0 ADGRV1 Gene migrated from ENSG00000164199 to ENSG00000164199 (gene set migration)
Additional findings_Paediatric v1.0 KLHL40 Gene migrated from ENSG00000157119 to ENSG00000157119 (gene set migration)
Additional findings_Paediatric v1.0 KIT Gene migrated from ENSG00000157404 to ENSG00000157404 (gene set migration)
Additional findings_Paediatric v1.0 KIF21A Gene migrated from ENSG00000139116 to ENSG00000139116 (gene set migration)
Additional findings_Paediatric v1.0 NEK1 Gene migrated from ENSG00000137601 to ENSG00000137601 (gene set migration)
Additional findings_Paediatric v1.0 KDM6A Gene migrated from ENSG00000147050 to ENSG00000147050 (gene set migration)
Additional findings_Paediatric v1.0 APOB Gene migrated from ENSG00000084674 to ENSG00000084674 (gene set migration)
Additional findings_Paediatric v1.0 KCTD7 Gene migrated from ENSG00000243335 to ENSG00000243335 (gene set migration)
Additional findings_Paediatric v1.0 KCNQ4 Gene migrated from ENSG00000117013 to ENSG00000117013 (gene set migration)
Additional findings_Paediatric v1.0 KCNJ2 Gene migrated from ENSG00000123700 to ENSG00000123700 (gene set migration)
Additional findings_Paediatric v1.0 KCNJ11 Gene migrated from ENSG00000187486 to ENSG00000187486 (gene set migration)
Additional findings_Paediatric v1.0 KCNJ1 Gene migrated from ENSG00000151704 to ENSG00000151704 (gene set migration)
Additional findings_Paediatric v1.0 ALPL Gene migrated from ENSG00000162551 to ENSG00000162551 (gene set migration)
Additional findings_Paediatric v1.0 KBTBD13 Gene migrated from ENSG00000234438 to ENSG00000234438 (gene set migration)
Additional findings_Paediatric v1.0 KANSL1 Gene migrated from ENSG00000120071 to ENSG00000120071 (gene set migration)
Additional findings_Paediatric v1.0 CIB2 Gene migrated from ENSG00000136425 to ENSG00000136425 (gene set migration)
Additional findings_Paediatric v1.0 MED25 Gene migrated from ENSG00000104973 to ENSG00000104973 (gene set migration)
Additional findings_Paediatric v1.0 JAK3 Gene migrated from ENSG00000105639 to ENSG00000105639 (gene set migration)
Additional findings_Paediatric v1.0 JAG1 Gene migrated from ENSG00000101384 to ENSG00000101384 (gene set migration)
Additional findings_Paediatric v1.0 IVD Gene migrated from ENSG00000128928 to ENSG00000128928 (gene set migration)
Additional findings_Paediatric v1.0 ITGB4 Gene migrated from ENSG00000132470 to ENSG00000132470 (gene set migration)
Additional findings_Paediatric v1.0 CRPPA Gene symbol changed from ISPD to CRPPA during gene set migration (ENSG00000214960 -> ENSG00000214960)
Additional findings_Paediatric v1.0 IQCB1 Gene migrated from ENSG00000173226 to ENSG00000173226 (gene set migration)
Additional findings_Paediatric v1.0 INVS Gene migrated from ENSG00000119509 to ENSG00000119509 (gene set migration)
Additional findings_Paediatric v1.0 INSR Gene migrated from ENSG00000171105 to ENSG00000171105 (gene set migration)
Additional findings_Paediatric v1.0 ILDR1 Gene migrated from ENSG00000145103 to ENSG00000145103 (gene set migration)
Additional findings_Paediatric v1.0 IL2RG Gene migrated from ENSG00000147168 to ENSG00000147168 (gene set migration)
Additional findings_Paediatric v1.0 IL10RA Gene migrated from ENSG00000110324 to ENSG00000110324 (gene set migration)
Additional findings_Paediatric v1.0 IKBKG Gene migrated from ENSG00000269335 to ENSG00000269335 (gene set migration)
Additional findings_Paediatric v1.0 ELP1 Gene migrated from ENSG00000070061 to ENSG00000070061 (gene set migration)
Additional findings_Paediatric v1.0 IGSF1 Gene migrated from ENSG00000147255 to ENSG00000147255 (gene set migration)
Additional findings_Paediatric v1.0 IGHMBP2 Gene migrated from ENSG00000132740 to ENSG00000132740 (gene set migration)
Additional findings_Paediatric v1.0 IDUA Gene migrated from ENSG00000127415 to ENSG00000127415 (gene set migration)
Additional findings_Paediatric v1.0 IDS Gene migrated from ENSG00000010404 to ENSG00000010404 (gene set migration)
Additional findings_Paediatric v1.0 HTRA1 Gene migrated from ENSG00000166033 to ENSG00000166033 (gene set migration)
Additional findings_Paediatric v1.0 HSPG2 Gene migrated from ENSG00000142798 to ENSG00000142798 (gene set migration)
Additional findings_Paediatric v1.0 HSPB8 Gene migrated from ENSG00000152137 to ENSG00000152137 (gene set migration)
Additional findings_Paediatric v1.0 HSD3B7 Gene migrated from ENSG00000099377 to ENSG00000099377 (gene set migration)
Additional findings_Paediatric v1.0 HSD17B4 Gene migrated from ENSG00000133835 to ENSG00000133835 (gene set migration)
Additional findings_Paediatric v1.0 F13A1 Gene migrated from ENSG00000124491 to ENSG00000124491 (gene set migration)
Additional findings_Paediatric v1.0 HSD17B3 Gene migrated from ENSG00000130948 to ENSG00000130948 (gene set migration)
Additional findings_Paediatric v1.0 HSD17B10 Gene migrated from ENSG00000072506 to ENSG00000072506 (gene set migration)
Additional findings_Paediatric v1.0 F10 Gene migrated from ENSG00000126218 to ENSG00000126218 (gene set migration)
Additional findings_Paediatric v1.0 HRAS Gene migrated from ENSG00000174775 to ENSG00000174775 (gene set migration)
Additional findings_Paediatric v1.0 HPS5 Gene migrated from ENSG00000110756 to ENSG00000110756 (gene set migration)
Additional findings_Paediatric v1.0 HPS4 Gene migrated from ENSG00000100099 to ENSG00000100099 (gene set migration)
Additional findings_Paediatric v1.0 HPS3 Gene migrated from ENSG00000163755 to ENSG00000163755 (gene set migration)
Additional findings_Paediatric v1.0 HPS1 Gene migrated from ENSG00000107521 to ENSG00000107521 (gene set migration)
Additional findings_Paediatric v1.0 HPRT1 Gene migrated from ENSG00000165704 to ENSG00000165704 (gene set migration)
Additional findings_Paediatric v1.0 HMGCL Gene migrated from ENSG00000117305 to ENSG00000117305 (gene set migration)
Additional findings_Paediatric v1.0 HLCS Gene migrated from ENSG00000159267 to ENSG00000159267 (gene set migration)
Additional findings_Paediatric v1.0 HINT1 Gene migrated from ENSG00000169567 to ENSG00000169567 (gene set migration)
Additional findings_Paediatric v1.0 HGSNAT Gene migrated from ENSG00000165102 to ENSG00000165102 (gene set migration)
Additional findings_Paediatric v1.0 HGD Gene migrated from ENSG00000113924 to ENSG00000113924 (gene set migration)
Additional findings_Paediatric v1.0 HEXB Gene migrated from ENSG00000049860 to ENSG00000049860 (gene set migration)
Additional findings_Paediatric v1.0 HEXA Gene migrated from ENSG00000213614 to ENSG00000213614 (gene set migration)
Additional findings_Paediatric v1.0 HDAC8 Gene migrated from ENSG00000147099 to ENSG00000147099 (gene set migration)
Additional findings_Paediatric v1.0 HBB Gene migrated from ENSG00000244734 to ENSG00000244734 (gene set migration)
Additional findings_Paediatric v1.0 HBA2 Gene migrated from ENSG00000188536 to ENSG00000188536 (gene set migration)
Additional findings_Paediatric v1.0 HBA1 Gene migrated from ENSG00000206172 to ENSG00000206172 (gene set migration)
Additional findings_Paediatric v1.0 INS Gene migrated from ENSG00000254647 to ENSG00000254647 (gene set migration)
Additional findings_Paediatric v1.0 HADHB Gene migrated from ENSG00000138029 to ENSG00000138029 (gene set migration)
Additional findings_Paediatric v1.0 HADHA Gene migrated from ENSG00000084754 to ENSG00000084754 (gene set migration)
Additional findings_Paediatric v1.0 GYS2 Gene migrated from ENSG00000111713 to ENSG00000111713 (gene set migration)
Additional findings_Paediatric v1.0 GUSB Gene migrated from ENSG00000169919 to ENSG00000169919 (gene set migration)
Additional findings_Paediatric v1.0 GSS Gene migrated from ENSG00000100983 to ENSG00000100983 (gene set migration)
Additional findings_Paediatric v1.0 GRHPR Gene migrated from ENSG00000137106 to ENSG00000137106 (gene set migration)
Additional findings_Paediatric v1.0 GPSM2 Gene migrated from ENSG00000121957 to ENSG00000121957 (gene set migration)
Additional findings_Paediatric v1.0 ADGRG1 Gene migrated from ENSG00000205336 to ENSG00000205336 (gene set migration)
Additional findings_Paediatric v1.0 GPR143 Gene migrated from ENSG00000101850 to ENSG00000101850 (gene set migration)
Additional findings_Paediatric v1.0 GPC3 Gene migrated from ENSG00000147257 to ENSG00000147257 (gene set migration)
Additional findings_Paediatric v1.0 GNPTAB Gene migrated from ENSG00000111670 to ENSG00000111670 (gene set migration)
Additional findings_Paediatric v1.0 GNE Gene migrated from ENSG00000159921 to ENSG00000159921 (gene set migration)
Additional findings_Paediatric v1.0 GLRA1 Gene migrated from ENSG00000145888 to ENSG00000145888 (gene set migration)
Additional findings_Paediatric v1.0 GLI3 Gene migrated from ENSG00000106571 to ENSG00000106571 (gene set migration)
Additional findings_Paediatric v1.0 GLDC Gene migrated from ENSG00000178445 to ENSG00000178445 (gene set migration)
Additional findings_Paediatric v1.0 GJC2 Gene migrated from ENSG00000198835 to ENSG00000198835 (gene set migration)
Additional findings_Paediatric v1.0 GJB2 Gene migrated from ENSG00000165474 to ENSG00000165474 (gene set migration)
Additional findings_Paediatric v1.0 GIPC3 Gene migrated from ENSG00000179855 to ENSG00000179855 (gene set migration)
Additional findings_Paediatric v1.0 GFPT1 Gene migrated from ENSG00000198380 to ENSG00000198380 (gene set migration)
Additional findings_Paediatric v1.0 GFM1 Gene migrated from ENSG00000168827 to ENSG00000168827 (gene set migration)
Additional findings_Paediatric v1.0 GCK Gene migrated from ENSG00000106633 to ENSG00000106633 (gene set migration)
Additional findings_Paediatric v1.0 GCDH Gene migrated from ENSG00000105607 to ENSG00000105607 (gene set migration)
Additional findings_Paediatric v1.0 GAN Gene migrated from ENSG00000261609 to ENSG00000261609 (gene set migration)
Additional findings_Paediatric v1.0 GALT Gene migrated from ENSG00000213930 to ENSG00000213930 (gene set migration)
Additional findings_Paediatric v1.0 GALC Gene migrated from ENSG00000054983 to ENSG00000054983 (gene set migration)
Additional findings_Paediatric v1.0 GAA Gene migrated from ENSG00000171298 to ENSG00000171298 (gene set migration)
Additional findings_Paediatric v1.0 G6PD Gene migrated from ENSG00000160211 to ENSG00000160211 (gene set migration)
Additional findings_Paediatric v1.0 FXN Gene migrated from ENSG00000165060 to ENSG00000165060 (gene set migration)
Additional findings_Paediatric v1.0 FUCA1 Gene migrated from ENSG00000179163 to ENSG00000179163 (gene set migration)
Additional findings_Paediatric v1.0 FTL Gene migrated from ENSG00000087086 to ENSG00000087086 (gene set migration)
Additional findings_Paediatric v1.0 FOXF1 Gene migrated from ENSG00000103241 to ENSG00000103241 (gene set migration)
Additional findings_Paediatric v1.0 FOXC2 Gene migrated from ENSG00000176692 to ENSG00000176692 (gene set migration)
Additional findings_Paediatric v1.0 FGG Gene migrated from ENSG00000171557 to ENSG00000171557 (gene set migration)
Additional findings_Paediatric v1.0 FGFR2 Gene migrated from ENSG00000066468 to ENSG00000066468 (gene set migration)
Additional findings_Paediatric v1.0 FGFR1 Gene migrated from ENSG00000077782 to ENSG00000077782 (gene set migration)
Additional findings_Paediatric v1.0 FGF3 Gene migrated from ENSG00000186895 to ENSG00000186895 (gene set migration)
Additional findings_Paediatric v1.0 FGB Gene migrated from ENSG00000171564 to ENSG00000171564 (gene set migration)
Additional findings_Paediatric v1.0 FGA Gene migrated from ENSG00000171560 to ENSG00000171560 (gene set migration)
Additional findings_Paediatric v1.0 FKTN Gene migrated from ENSG00000106692 to ENSG00000106692 (gene set migration)
Additional findings_Paediatric v1.0 FANCD2 Gene migrated from ENSG00000144554 to ENSG00000144554 (gene set migration)
Additional findings_Paediatric v1.0 FANCC Gene migrated from ENSG00000158169 to ENSG00000158169 (gene set migration)
Additional findings_Paediatric v1.0 FANCB Gene migrated from ENSG00000181544 to ENSG00000181544 (gene set migration)
Additional findings_Paediatric v1.0 FANCA Gene migrated from ENSG00000187741 to ENSG00000187741 (gene set migration)
Additional findings_Paediatric v1.0 FAM161A Gene migrated from ENSG00000170264 to ENSG00000170264 (gene set migration)
Additional findings_Paediatric v1.0 HYCC1 Gene symbol changed from FAM126A to HYCC1 during gene set migration (ENSG00000122591 -> ENSG00000122591)
Additional findings_Paediatric v1.0 FAH Gene migrated from ENSG00000103876 to ENSG00000103876 (gene set migration)
Additional findings_Paediatric v1.0 F2 Gene migrated from ENSG00000180210 to ENSG00000180210 (gene set migration)
Additional findings_Paediatric v1.0 F11 Gene migrated from ENSG00000088926 to ENSG00000088926 (gene set migration)
Additional findings_Paediatric v1.0 EZH2 Gene migrated from ENSG00000106462 to ENSG00000106462 (gene set migration)
Additional findings_Paediatric v1.0 EXT2 Gene migrated from ENSG00000151348 to ENSG00000151348 (gene set migration)
Additional findings_Paediatric v1.0 EXT1 Gene migrated from ENSG00000182197 to ENSG00000182197 (gene set migration)
Additional findings_Paediatric v1.0 EVC2 Gene migrated from ENSG00000173040 to ENSG00000173040 (gene set migration)
Additional findings_Paediatric v1.0 ETFDH Gene migrated from ENSG00000171503 to ENSG00000171503 (gene set migration)
Additional findings_Paediatric v1.0 ETFB Gene migrated from ENSG00000105379 to ENSG00000105379 (gene set migration)
Additional findings_Paediatric v1.0 ETFA Gene migrated from ENSG00000140374 to ENSG00000140374 (gene set migration)
Additional findings_Paediatric v1.0 ERCC8 Gene migrated from ENSG00000049167 to ENSG00000049167 (gene set migration)
Additional findings_Paediatric v1.0 ERCC6 Gene migrated from ENSG00000225830 to ENSG00000225830 (gene set migration)
Additional findings_Paediatric v1.0 ERCC5 Gene migrated from ENSG00000134899 to ENSG00000134899 (gene set migration)
Additional findings_Paediatric v1.0 ENG Gene migrated from ENSG00000106991 to ENSG00000106991 (gene set migration)
Additional findings_Paediatric v1.0 EMD Gene migrated from ENSG00000102119 to ENSG00000102119 (gene set migration)
Additional findings_Paediatric v1.0 ENPP1 Gene migrated from ENSG00000197594 to ENSG00000197594 (gene set migration)
Additional findings_Paediatric v1.0 EIF2AK3 Gene migrated from ENSG00000172071 to ENSG00000172071 (gene set migration)
Additional findings_Paediatric v1.0 EGR2 Gene migrated from ENSG00000122877 to ENSG00000122877 (gene set migration)
Additional findings_Paediatric v1.0 EFTUD2 Gene migrated from ENSG00000108883 to ENSG00000108883 (gene set migration)
Additional findings_Paediatric v1.0 EDAR Gene migrated from ENSG00000135960 to ENSG00000135960 (gene set migration)
Additional findings_Paediatric v1.0 EDA Gene migrated from ENSG00000158813 to ENSG00000158813 (gene set migration)
Additional findings_Paediatric v1.0 DYSF Gene migrated from ENSG00000135636 to ENSG00000135636 (gene set migration)
Additional findings_Paediatric v1.0 DPAGT1 Gene migrated from ENSG00000172269 to ENSG00000172269 (gene set migration)
Additional findings_Paediatric v1.0 DOK7 Gene migrated from ENSG00000175920 to ENSG00000175920 (gene set migration)
Additional findings_Paediatric v1.0 DNM2 Gene migrated from ENSG00000079805 to ENSG00000079805 (gene set migration)
Additional findings_Paediatric v1.0 PTPRC Gene migrated from ENSG00000081237 to ENSG00000081237 (gene set migration)
Additional findings_Paediatric v1.0 DNAH11 Gene migrated from ENSG00000105877 to ENSG00000105877 (gene set migration)
Additional findings_Paediatric v1.0 DNAAF1 Gene migrated from ENSG00000154099 to ENSG00000154099 (gene set migration)
Additional findings_Paediatric v1.0 DMPK Gene migrated from ENSG00000104936 to ENSG00000104936 (gene set migration)
Additional findings_Paediatric v1.0 DMP1 Gene migrated from ENSG00000152592 to ENSG00000152592 (gene set migration)
Additional findings_Paediatric v1.0 DGUOK Gene migrated from ENSG00000114956 to ENSG00000114956 (gene set migration)
Additional findings_Paediatric v1.0 TTC21B Gene migrated from ENSG00000123607 to ENSG00000123607 (gene set migration)
Additional findings_Paediatric v1.0 PJVK Gene symbol changed from DFNB59 to PJVK during gene set migration (ENSG00000204311 -> ENSG00000204311)
Additional findings_Paediatric v1.0 GSDME Gene symbol changed from DFNA5 to GSDME during gene set migration (ENSG00000105928 -> ENSG00000105928)
Additional findings_Paediatric v1.0 DDB2 Gene migrated from ENSG00000134574 to ENSG00000134574 (gene set migration)
Additional findings_Paediatric v1.0 DCLRE1C Gene migrated from ENSG00000152457 to ENSG00000152457 (gene set migration)
Additional findings_Paediatric v1.0 CYP4F22 Gene migrated from ENSG00000171954 to ENSG00000171954 (gene set migration)
Additional findings_Paediatric v1.0 CYP27B1 Gene migrated from ENSG00000111012 to ENSG00000111012 (gene set migration)
Additional findings_Paediatric v1.0 FBN2 Gene migrated from ENSG00000138829 to ENSG00000138829 (gene set migration)
Additional findings_Paediatric v1.0 CYP27A1 Gene migrated from ENSG00000135929 to ENSG00000135929 (gene set migration)
Additional findings_Paediatric v1.0 CYP11A1 Gene migrated from ENSG00000140459 to ENSG00000140459 (gene set migration)
Additional findings_Paediatric v1.0 CYBB Gene migrated from ENSG00000165168 to ENSG00000165168 (gene set migration)
Additional findings_Paediatric v1.0 FOXC1 Gene migrated from ENSG00000054598 to ENSG00000054598 (gene set migration)
Additional findings_Paediatric v1.0 CYBA Gene migrated from ENSG00000051523 to ENSG00000051523 (gene set migration)
Additional findings_Paediatric v1.0 CTSK Gene migrated from ENSG00000143387 to ENSG00000143387 (gene set migration)
Additional findings_Paediatric v1.0 CTSD Gene migrated from ENSG00000117984 to ENSG00000117984 (gene set migration)
Additional findings_Paediatric v1.0 CTNS Gene migrated from ENSG00000040531 to ENSG00000040531 (gene set migration)
Additional findings_Paediatric v1.0 CRTAP Gene migrated from ENSG00000170275 to ENSG00000170275 (gene set migration)
Additional findings_Paediatric v1.0 CPT2 Gene migrated from ENSG00000157184 to ENSG00000157184 (gene set migration)
Additional findings_Paediatric v1.0 CPT1A Gene migrated from ENSG00000110090 to ENSG00000110090 (gene set migration)
Additional findings_Paediatric v1.0 CPS1 Gene migrated from ENSG00000021826 to ENSG00000021826 (gene set migration)
Additional findings_Paediatric v1.0 COL6A3 Gene migrated from ENSG00000163359 to ENSG00000163359 (gene set migration)
Additional findings_Paediatric v1.0 WRAP53 Gene migrated from ENSG00000141499 to ENSG00000141499 (gene set migration)
Additional findings_Paediatric v1.0 COL6A2 Gene migrated from ENSG00000142173 to ENSG00000142173 (gene set migration)
Additional findings_Paediatric v1.0 COL6A1 Gene migrated from ENSG00000142156 to ENSG00000142156 (gene set migration)
Additional findings_Paediatric v1.0 COL4A5 Gene migrated from ENSG00000188153 to ENSG00000188153 (gene set migration)
Additional findings_Paediatric v1.0 COL4A4 Gene migrated from ENSG00000081052 to ENSG00000081052 (gene set migration)
Additional findings_Paediatric v1.0 COL4A3 Gene migrated from ENSG00000169031 to ENSG00000169031 (gene set migration)
Additional findings_Paediatric v1.0 COL1A2 Gene migrated from ENSG00000164692 to ENSG00000164692 (gene set migration)
Additional findings_Paediatric v1.0 COL17A1 Gene migrated from ENSG00000065618 to ENSG00000065618 (gene set migration)
Additional findings_Paediatric v1.0 CNGB3 Gene migrated from ENSG00000170289 to ENSG00000170289 (gene set migration)
Additional findings_Paediatric v1.0 CDT1 Gene migrated from ENSG00000167513 to ENSG00000167513 (gene set migration)
Additional findings_Paediatric v1.0 CLN5 Gene migrated from ENSG00000102805 to ENSG00000102805 (gene set migration)
Additional findings_Paediatric v1.0 CLN3 Gene migrated from ENSG00000188603 to ENSG00000188603 (gene set migration)
Additional findings_Paediatric v1.0 CLDN19 Gene migrated from ENSG00000164007 to ENSG00000164007 (gene set migration)
Additional findings_Paediatric v1.0 CHRNG Gene migrated from ENSG00000196811 to ENSG00000196811 (gene set migration)
Additional findings_Paediatric v1.0 CHRNE Gene migrated from ENSG00000108556 to ENSG00000108556 (gene set migration)
Additional findings_Paediatric v1.0 CHRND Gene migrated from ENSG00000135902 to ENSG00000135902 (gene set migration)
Additional findings_Paediatric v1.0 CHKB Gene migrated from ENSG00000100288 to ENSG00000100288 (gene set migration)
Additional findings_Paediatric v1.0 CHD7 Gene migrated from ENSG00000171316 to ENSG00000171316 (gene set migration)
Additional findings_Paediatric v1.0 CHD2 Gene migrated from ENSG00000173575 to ENSG00000173575 (gene set migration)
Additional findings_Paediatric v1.0 CFP Gene migrated from ENSG00000126759 to ENSG00000126759 (gene set migration)
Additional findings_Paediatric v1.0 CFC1 Gene migrated from ENSG00000136698 to ENSG00000136698 (gene set migration)
Additional findings_Paediatric v1.0 CDKN1C Gene migrated from ENSG00000129757 to ENSG00000129757 (gene set migration)
Additional findings_Paediatric v1.0 CDAN1 Gene migrated from ENSG00000140326 to ENSG00000140326 (gene set migration)
Additional findings_Paediatric v1.0 CD40LG Gene migrated from ENSG00000102245 to ENSG00000102245 (gene set migration)
Additional findings_Paediatric v1.0 CCDC40 Gene migrated from ENSG00000141519 to ENSG00000141519 (gene set migration)
Additional findings_Paediatric v1.0 CBS Gene migrated from ENSG00000160200 to ENSG00000160200 (gene set migration)
Additional findings_Paediatric v1.0 CBL Gene migrated from ENSG00000110395 to ENSG00000110395 (gene set migration)
Additional findings_Paediatric v1.0 CASK Gene migrated from ENSG00000147044 to ENSG00000147044 (gene set migration)
Additional findings_Paediatric v1.0 CACNA1F Gene migrated from ENSG00000102001 to ENSG00000102001 (gene set migration)
Additional findings_Paediatric v1.0 TWNK Gene migrated from ENSG00000107815 to ENSG00000107815 (gene set migration)
Additional findings_Paediatric v1.0 BTK Gene migrated from ENSG00000010671 to ENSG00000010671 (gene set migration)
Additional findings_Paediatric v1.0 BTD Gene migrated from ENSG00000169814 to ENSG00000169814 (gene set migration)
Additional findings_Paediatric v1.0 BICD2 Gene migrated from ENSG00000185963 to ENSG00000185963 (gene set migration)
Additional findings_Paediatric v1.0 BCS1L Gene migrated from ENSG00000074582 to ENSG00000074582 (gene set migration)
Additional findings_Paediatric v1.0 BCKDHB Gene migrated from ENSG00000083123 to ENSG00000083123 (gene set migration)
Additional findings_Paediatric v1.0 BBS7 Gene migrated from ENSG00000138686 to ENSG00000138686 (gene set migration)
Additional findings_Paediatric v1.0 BBS5 Gene migrated from ENSG00000163093 to ENSG00000163093 (gene set migration)
Additional findings_Paediatric v1.0 BBS4 Gene migrated from ENSG00000140463 to ENSG00000140463 (gene set migration)
Additional findings_Paediatric v1.0 BBS1 Gene migrated from ENSG00000174483 to ENSG00000174483 (gene set migration)
Additional findings_Paediatric v1.0 BAAT Gene migrated from ENSG00000136881 to ENSG00000136881 (gene set migration)
Additional findings_Paediatric v1.0 B3GLCT Gene migrated from ENSG00000187676 to ENSG00000187676 (gene set migration)
Additional findings_Paediatric v1.0 ATP8B1 Gene migrated from ENSG00000081923 to ENSG00000081923 (gene set migration)
Additional findings_Paediatric v1.0 ATP6V1B1 Gene migrated from ENSG00000116039 to ENSG00000116039 (gene set migration)
Additional findings_Paediatric v1.0 ATP6V0A2 Gene migrated from ENSG00000185344 to ENSG00000185344 (gene set migration)
Additional findings_Paediatric v1.0 ATP2A1 Gene migrated from ENSG00000196296 to ENSG00000196296 (gene set migration)
Additional findings_Paediatric v1.0 ASS1 Gene migrated from ENSG00000130707 to ENSG00000130707 (gene set migration)
Additional findings_Paediatric v1.0 ASPA Gene migrated from ENSG00000108381 to ENSG00000108381 (gene set migration)
Additional findings_Paediatric v1.0 BBS2 Gene migrated from ENSG00000125124 to ENSG00000125124 (gene set migration)
Additional findings_Paediatric v1.0 ARSA Gene migrated from ENSG00000100299 to ENSG00000100299 (gene set migration)
Additional findings_Paediatric v1.0 ODAD2 Gene symbol changed from ARMC4 to ODAD2 during gene set migration (ENSG00000169126 -> ENSG00000169126)
Additional findings_Paediatric v1.0 ARID1B Gene migrated from ENSG00000049618 to ENSG00000049618 (gene set migration)
Additional findings_Paediatric v1.0 APTX Gene migrated from ENSG00000137074 to ENSG00000137074 (gene set migration)
Additional findings_Paediatric v1.0 AP3B1 Gene migrated from ENSG00000132842 to ENSG00000132842 (gene set migration)
Additional findings_Paediatric v1.0 ANTXR2 Gene migrated from ENSG00000163297 to ENSG00000163297 (gene set migration)
Additional findings_Paediatric v1.0 ANKH Gene migrated from ENSG00000154122 to ENSG00000154122 (gene set migration)
Additional findings_Paediatric v1.0 ANK1 Gene migrated from ENSG00000029534 to ENSG00000029534 (gene set migration)
Additional findings_Paediatric v1.0 AMT Gene migrated from ENSG00000145020 to ENSG00000145020 (gene set migration)
Additional findings_Paediatric v1.0 ALX4 Gene migrated from ENSG00000052850 to ENSG00000052850 (gene set migration)
Additional findings_Paediatric v1.0 ALS2 Gene migrated from ENSG00000003393 to ENSG00000003393 (gene set migration)
Additional findings_Paediatric v1.0 ALMS1 Gene migrated from ENSG00000116127 to ENSG00000116127 (gene set migration)
Additional findings_Paediatric v1.0 ALG8 Gene migrated from ENSG00000159063 to ENSG00000159063 (gene set migration)
Additional findings_Paediatric v1.0 ALG6 Gene migrated from ENSG00000088035 to ENSG00000088035 (gene set migration)
Additional findings_Paediatric v1.0 ALG1 Gene migrated from ENSG00000033011 to ENSG00000033011 (gene set migration)
Additional findings_Paediatric v1.0 ALDOB Gene migrated from ENSG00000136872 to ENSG00000136872 (gene set migration)
Additional findings_Paediatric v1.0 ALDH5A1 Gene migrated from ENSG00000112294 to ENSG00000112294 (gene set migration)
Additional findings_Paediatric v1.0 ALB Gene migrated from ENSG00000163631 to ENSG00000163631 (gene set migration)
Additional findings_Paediatric v1.0 ALAS2 Gene migrated from ENSG00000158578 to ENSG00000158578 (gene set migration)
Additional findings_Paediatric v1.0 AKR1D1 Gene migrated from ENSG00000122787 to ENSG00000122787 (gene set migration)
Additional findings_Paediatric v1.0 AGXT Gene migrated from ENSG00000172482 to ENSG00000172482 (gene set migration)
Additional findings_Paediatric v1.0 AGRN Gene migrated from ENSG00000188157 to ENSG00000188157 (gene set migration)
Additional findings_Paediatric v1.0 ADK Gene migrated from ENSG00000156110 to ENSG00000156110 (gene set migration)
Additional findings_Paediatric v1.0 ADAR Gene migrated from ENSG00000160710 to ENSG00000160710 (gene set migration)
Additional findings_Paediatric v1.0 ADA Gene migrated from ENSG00000196839 to ENSG00000196839 (gene set migration)
Additional findings_Paediatric v1.0 ACVRL1 Gene migrated from ENSG00000139567 to ENSG00000139567 (gene set migration)
Additional findings_Paediatric v1.0 ACVR1 Gene migrated from ENSG00000115170 to ENSG00000115170 (gene set migration)
Additional findings_Paediatric v1.0 ACTG2 Gene migrated from ENSG00000163017 to ENSG00000163017 (gene set migration)
Additional findings_Paediatric v1.0 ATRX Gene migrated from ENSG00000085224 to ENSG00000085224 (gene set migration)
Additional findings_Paediatric v1.0 KAT6B Gene migrated from ENSG00000156650 to ENSG00000156650 (gene set migration)
Additional findings_Paediatric v1.0 CSF2RA Gene migrated from ENSG00000198223 to ENSG00000198223 (gene set migration)
Additional findings_Paediatric v1.0 CEP83 Gene migrated from ENSG00000173588 to ENSG00000173588 (gene set migration)
Additional findings_Paediatric v1.0 SLCO2A1 Gene migrated from ENSG00000174640 to ENSG00000174640 (gene set migration)
Additional findings_Paediatric v1.0 P2RY12 Gene migrated from ENSG00000169313 to ENSG00000169313 (gene set migration)
Additional findings_Paediatric v1.0 CDK5RAP2 Gene migrated from ENSG00000136861 to ENSG00000136861 (gene set migration)
Additional findings_Paediatric v1.0 SHANK3 Gene migrated from ENSG00000251322 to ENSG00000251322 (gene set migration)
Additional findings_Paediatric v1.0 RETREG1 Gene migrated from ENSG00000154153 to ENSG00000154153 (gene set migration)
Additional findings_Paediatric v1.0 RAB3GAP2 Gene migrated from ENSG00000118873 to ENSG00000118873 (gene set migration)
Additional findings_Paediatric v1.0 NEUROG3 Gene migrated from ENSG00000122859 to ENSG00000122859 (gene set migration)
Additional findings_Paediatric v1.0 PDX1 Gene migrated from ENSG00000139515 to ENSG00000139515 (gene set migration)
Additional findings_Paediatric v1.0 PIK3CD Gene migrated from ENSG00000171608 to ENSG00000171608 (gene set migration)
Additional findings_Paediatric v1.0 PYGM Gene migrated from ENSG00000068976 to ENSG00000068976 (gene set migration)
Additional findings_Paediatric v1.0 MGAT2 Gene migrated from ENSG00000168282 to ENSG00000168282 (gene set migration)
Additional findings_Paediatric v1.0 LARS2 Gene migrated from ENSG00000011376 to ENSG00000011376 (gene set migration)
Additional findings_Paediatric v1.0 HGF Gene migrated from ENSG00000019991 to ENSG00000019991 (gene set migration)
Additional findings_Paediatric v1.0 GRHL2 Gene migrated from ENSG00000083307 to ENSG00000083307 (gene set migration)
Additional findings_Paediatric v1.0 HOMER2 Gene migrated from ENSG00000103942 to ENSG00000103942 (gene set migration)
Additional findings_Paediatric v1.0 ALG9 Gene migrated from ENSG00000086848 to ENSG00000086848 (gene set migration)
Additional findings_Paediatric v1.0 ITGA3 Gene migrated from ENSG00000005884 to ENSG00000005884 (gene set migration)
Additional findings_Paediatric v1.0 HSD3B2 Gene migrated from ENSG00000203859 to ENSG00000203859 (gene set migration)
Additional findings_Paediatric v1.0 F5 Gene migrated from ENSG00000198734 to ENSG00000198734 (gene set migration)
Additional findings_Paediatric v1.0 HADH Gene migrated from ENSG00000138796 to ENSG00000138796 (gene set migration)
Additional findings_Paediatric v1.0 GATA2 Gene migrated from ENSG00000179348 to ENSG00000179348 (gene set migration)
Additional findings_Paediatric v1.0 CBLIF Gene symbol changed from GIF to CBLIF during gene set migration (ENSG00000134812 -> ENSG00000134812)
Additional findings_Paediatric v1.0 PDZD7 Gene migrated from ENSG00000186862 to ENSG00000186862 (gene set migration)
Additional findings_Paediatric v1.0 GNAS Gene migrated from ENSG00000087460 to ENSG00000087460 (gene set migration)
Additional findings_Paediatric v1.0 GJB1 Gene migrated from ENSG00000169562 to ENSG00000169562 (gene set migration)
Additional findings_Paediatric v1.0 GJA1 Gene migrated from ENSG00000152661 to ENSG00000152661 (gene set migration)
Additional findings_Paediatric v1.0 GFAP Gene migrated from ENSG00000131095 to ENSG00000131095 (gene set migration)
Additional findings_Paediatric v1.0 GDAP1 Gene migrated from ENSG00000104381 to ENSG00000104381 (gene set migration)
Additional findings_Paediatric v1.0 GBA1 Gene symbol changed from GBA to GBA1 during gene set migration (ENSG00000177628 -> ENSG00000177628)
Additional findings_Paediatric v1.0 GALK1 Gene migrated from ENSG00000108479 to ENSG00000108479 (gene set migration)
Additional findings_Paediatric v1.0 FLNA Gene migrated from ENSG00000196924 to ENSG00000196924 (gene set migration)
Additional findings_Paediatric v1.0 G6PC3 Gene migrated from ENSG00000141349 to ENSG00000141349 (gene set migration)
Additional findings_Paediatric v1.0 FLCN Gene migrated from ENSG00000154803 to ENSG00000154803 (gene set migration)
Additional findings_Paediatric v1.0 FGD4 Gene migrated from ENSG00000139132 to ENSG00000139132 (gene set migration)
Additional findings_Paediatric v1.0 FGD1 Gene migrated from ENSG00000102302 to ENSG00000102302 (gene set migration)
Additional findings_Paediatric v1.0 CCNQ Gene symbol changed from FAM58A to CCNQ during gene set migration (ENSG00000262919 -> ENSG00000262919)
Additional findings_Paediatric v1.0 FAM20C Gene migrated from ENSG00000177706 to ENSG00000177706 (gene set migration)
Additional findings_Paediatric v1.0 EYA4 Gene migrated from ENSG00000112319 to ENSG00000112319 (gene set migration)
Additional findings_Paediatric v1.0 EYA1 Gene migrated from ENSG00000104313 to ENSG00000104313 (gene set migration)
Additional findings_Paediatric v1.0 ESRRB Gene migrated from ENSG00000119715 to ENSG00000119715 (gene set migration)
Additional findings_Paediatric v1.0 ESCO2 Gene migrated from ENSG00000171320 to ENSG00000171320 (gene set migration)
Additional findings_Paediatric v1.0 ELN Gene migrated from ENSG00000049540 to ENSG00000049540 (gene set migration)
Additional findings_Paediatric v1.0 ELANE Gene migrated from ENSG00000197561 to ENSG00000197561 (gene set migration)
Additional findings_Paediatric v1.0 EDARADD Gene migrated from ENSG00000186197 to ENSG00000186197 (gene set migration)
Additional findings_Paediatric v1.0 DUOX2 Gene migrated from ENSG00000140279 to ENSG00000140279 (gene set migration)
Additional findings_Paediatric v1.0 DNAJB6 Gene migrated from ENSG00000105993 to ENSG00000105993 (gene set migration)
Additional findings_Paediatric v1.0 DNAI1 Gene migrated from ENSG00000122735 to ENSG00000122735 (gene set migration)
Additional findings_Paediatric v1.0 DNAH5 Gene migrated from ENSG00000039139 to ENSG00000039139 (gene set migration)
Additional findings_Paediatric v1.0 DDC Gene migrated from ENSG00000132437 to ENSG00000132437 (gene set migration)
Additional findings_Paediatric v1.0 DBT Gene migrated from ENSG00000137992 to ENSG00000137992 (gene set migration)
Additional findings_Paediatric v1.0 D2HGDH Gene migrated from ENSG00000180902 to ENSG00000180902 (gene set migration)
Additional findings_Paediatric v1.0 CYP21A2 Gene migrated from ENSG00000231852 to ENSG00000231852 (gene set migration)
Additional findings_Paediatric v1.0 CTC1 Gene migrated from ENSG00000178971 to ENSG00000178971 (gene set migration)
Additional findings_Paediatric v1.0 CSTB Gene migrated from ENSG00000160213 to ENSG00000160213 (gene set migration)
Additional findings_Paediatric v1.0 COLQ Gene migrated from ENSG00000206561 to ENSG00000206561 (gene set migration)
Additional findings_Paediatric v1.0 COL7A1 Gene migrated from ENSG00000114270 to ENSG00000114270 (gene set migration)
Additional findings_Paediatric v1.0 COL3A1 Gene migrated from ENSG00000168542 to ENSG00000168542 (gene set migration)
Additional findings_Paediatric v1.0 CLRN1 Gene migrated from ENSG00000163646 to ENSG00000163646 (gene set migration)
Additional findings_Paediatric v1.0 CLN8 Gene migrated from ENSG00000182372 to ENSG00000182372 (gene set migration)
Additional findings_Paediatric v1.0 CLN6 Gene migrated from ENSG00000128973 to ENSG00000128973 (gene set migration)
Additional findings_Paediatric v1.0 CHRNA1 Gene migrated from ENSG00000138435 to ENSG00000138435 (gene set migration)
Additional findings_Paediatric v1.0 CHM Gene migrated from ENSG00000188419 to ENSG00000188419 (gene set migration)
Additional findings_Paediatric v1.0 CHAT Gene migrated from ENSG00000070748 to ENSG00000070748 (gene set migration)
Additional findings_Paediatric v1.0 CFTR Gene migrated from ENSG00000001626 to ENSG00000001626 (gene set migration)
Additional findings_Paediatric v1.0 CCDC39 Gene migrated from ENSG00000145075 to ENSG00000284862 (gene set migration)
Additional findings_Paediatric v1.0 CC2D2A Gene migrated from ENSG00000048342 to ENSG00000048342 (gene set migration)
Additional findings_Paediatric v1.0 CACNA1A Gene migrated from ENSG00000141837 to ENSG00000141837 (gene set migration)
Additional findings_Paediatric v1.0 CA2 Gene migrated from ENSG00000104267 to ENSG00000104267 (gene set migration)
Additional findings_Paediatric v1.0 BSND Gene migrated from ENSG00000162399 to ENSG00000162399 (gene set migration)
Additional findings_Paediatric v1.0 BCKDHA Gene migrated from ENSG00000248098 to ENSG00000248098 (gene set migration)
Additional findings_Paediatric v1.0 BBS9 Gene migrated from ENSG00000122507 to ENSG00000122507 (gene set migration)
Additional findings_Paediatric v1.0 AUH Gene migrated from ENSG00000148090 to ENSG00000148090 (gene set migration)
Additional findings_Paediatric v1.0 ATP7B Gene migrated from ENSG00000123191 to ENSG00000123191 (gene set migration)
Additional findings_Paediatric v1.0 ATP1A2 Gene migrated from ENSG00000018625 to ENSG00000018625 (gene set migration)
Additional findings_Paediatric v1.0 ARX Gene migrated from ENSG00000004848 to ENSG00000004848 (gene set migration)
Additional findings_Paediatric v1.0 ARSB Gene migrated from ENSG00000113273 to ENSG00000113273 (gene set migration)
Additional findings_Paediatric v1.0 ARG1 Gene migrated from ENSG00000118520 to ENSG00000118520 (gene set migration)
Additional findings_Paediatric v1.0 ARFGEF2 Gene migrated from ENSG00000124198 to ENSG00000124198 (gene set migration)
Additional findings_Paediatric v1.0 APC Gene migrated from ENSG00000134982 to ENSG00000134982 (gene set migration)
Additional findings_Paediatric v1.0 AMN Gene migrated from ENSG00000166126 to ENSG00000166126 (gene set migration)
Additional findings_Paediatric v1.0 AMELX Gene migrated from ENSG00000125363 to ENSG00000125363 (gene set migration)
Additional findings_Paediatric v1.0 ALG3 Gene migrated from ENSG00000214160 to ENSG00000214160 (gene set migration)
Additional findings_Paediatric v1.0 ALG12 Gene migrated from ENSG00000182858 to ENSG00000182858 (gene set migration)
Additional findings_Paediatric v1.0 AIRE Gene migrated from ENSG00000160224 to ENSG00000160224 (gene set migration)
Additional findings_Paediatric v1.0 AIFM1 Gene migrated from ENSG00000156709 to ENSG00000156709 (gene set migration)
Additional findings_Paediatric v1.0 AGL Gene migrated from ENSG00000162688 to ENSG00000162688 (gene set migration)
Additional findings_Paediatric v1.0 AGA Gene migrated from ENSG00000038002 to ENSG00000038002 (gene set migration)
Additional findings_Paediatric v1.0 ACTN4 Gene migrated from ENSG00000130402 to ENSG00000130402 (gene set migration)
Additional findings_Paediatric v1.0 ACAT1 Gene migrated from ENSG00000075239 to ENSG00000075239 (gene set migration)
Additional findings_Paediatric v1.0 ACADVL Gene migrated from ENSG00000072778 to ENSG00000072778 (gene set migration)
Additional findings_Paediatric v1.0 ABCG5 Gene migrated from ENSG00000138075 to ENSG00000138075 (gene set migration)
Additional findings_Paediatric v1.0 COL9A3 Gene migrated from ENSG00000092758 to ENSG00000092758 (gene set migration)
Additional findings_Paediatric v1.0 CEP78 Gene migrated from ENSG00000148019 to ENSG00000148019 (gene set migration)
Additional findings_Paediatric v1.0 SLC6A19 Gene migrated from ENSG00000174358 to ENSG00000174358 (gene set migration)
Additional findings_Paediatric v1.0 SERPINA1 Gene migrated from ENSG00000197249 to ENSG00000197249 (gene set migration)
Additional findings_Paediatric v1.0 CDC14A Gene migrated from ENSG00000079335 to ENSG00000079335 (gene set migration)
Additional findings_Paediatric v1.0 PALB2 Gene migrated from ENSG00000083093 to ENSG00000083093 (gene set migration)
Additional findings_Paediatric v1.0 NTRK1 Gene migrated from ENSG00000198400 to ENSG00000198400 (gene set migration)
Additional findings_Paediatric v1.0 ATP2B2 Gene migrated from ENSG00000157087 to ENSG00000157087 (gene set migration)
Additional findings_Paediatric v1.0 IRF6 Gene migrated from ENSG00000117595 to ENSG00000117595 (gene set migration)
Additional findings_Paediatric v1.0 GRXCR1 Gene migrated from ENSG00000215203 to ENSG00000215203 (gene set migration)
Additional findings_Paediatric v1.0 FH Gene migrated from ENSG00000091483 to ENSG00000091483 (gene set migration)
Additional findings_Paediatric v1.0 FGFR3 Gene migrated from ENSG00000068078 to ENSG00000068078 (gene set migration)
Additional findings_Paediatric v1.0 FBN1 Gene migrated from ENSG00000166147 to ENSG00000166147 (gene set migration)
Additional findings_Paediatric v1.0 STAC3 Gene migrated from ENSG00000185482 to ENSG00000185482 (gene set migration)
Additional findings_Paediatric v1.0 DCX Gene migrated from ENSG00000077279 to ENSG00000077279 (gene set migration)
Additional findings_Paediatric v1.0 COL1A1 Gene migrated from ENSG00000108821 to ENSG00000108821 (gene set migration)
Additional findings_Paediatric v1.0 CLCN7 Gene migrated from ENSG00000103249 to ENSG00000103249 (gene set migration)
Additional findings_Paediatric v1.0 CAV3 Gene migrated from ENSG00000182533 to ENSG00000182533 (gene set migration)
Additional findings_Paediatric v1.0 BRAF Gene migrated from ENSG00000157764 to ENSG00000157764 (gene set migration)
Additional findings_Paediatric v1.0 BMPR1A Gene migrated from ENSG00000107779 to ENSG00000107779 (gene set migration)
Additional findings_Paediatric v1.0 AR Gene migrated from ENSG00000169083 to ENSG00000169083 (gene set migration)
Additional findings_Paediatric v1.0 RDX Gene migrated from ENSG00000137710 to ENSG00000137710 (gene set migration)
Additional findings_Paediatric v1.0 ZEB2 Gene migrated from ENSG00000169554 to ENSG00000169554 (gene set migration)
Additional findings_Paediatric v1.0 ZAP70 Gene migrated from ENSG00000115085 to ENSG00000115085 (gene set migration)
Additional findings_Paediatric v1.0 XPC Gene migrated from ENSG00000154767 to ENSG00000154767 (gene set migration)
Additional findings_Paediatric v1.0 XPA Gene migrated from ENSG00000136936 to ENSG00000136936 (gene set migration)
Additional findings_Paediatric v1.0 WRN Gene migrated from ENSG00000165392 to ENSG00000165392 (gene set migration)
Additional findings_Paediatric v1.0 WFS1 Gene migrated from ENSG00000109501 to ENSG00000109501 (gene set migration)
Additional findings_Paediatric v1.0 WDR62 Gene migrated from ENSG00000075702 to ENSG00000075702 (gene set migration)
Additional findings_Paediatric v1.0 VIPAS39 Gene migrated from ENSG00000151445 to ENSG00000151445 (gene set migration)
Additional findings_Paediatric v1.0 VHL Gene migrated from ENSG00000134086 to ENSG00000134086 (gene set migration)
Additional findings_Paediatric v1.0 VDR Gene migrated from ENSG00000111424 to ENSG00000111424 (gene set migration)
Additional findings_Paediatric v1.0 VCP Gene migrated from ENSG00000165280 to ENSG00000165280 (gene set migration)
Additional findings_Paediatric v1.0 VCAN Gene migrated from ENSG00000038427 to ENSG00000038427 (gene set migration)
Additional findings_Paediatric v1.0 USH2A Gene migrated from ENSG00000042781 to ENSG00000042781 (gene set migration)
Additional findings_Paediatric v1.0 USH1G Gene migrated from ENSG00000182040 to ENSG00000182040 (gene set migration)
Additional findings_Paediatric v1.0 USH1C Gene migrated from ENSG00000006611 to ENSG00000006611 (gene set migration)
Additional findings_Paediatric v1.0 UROS Gene migrated from ENSG00000188690 to ENSG00000188690 (gene set migration)
Additional findings_Paediatric v1.0 UROD Gene migrated from ENSG00000126088 to ENSG00000126088 (gene set migration)
Additional findings_Paediatric v1.0 TYMP Gene migrated from ENSG00000025708 to ENSG00000025708 (gene set migration)
Additional findings_Paediatric v1.0 TWIST1 Gene migrated from ENSG00000122691 to ENSG00000122691 (gene set migration)
Additional findings_Paediatric v1.0 TTR Gene migrated from ENSG00000118271 to ENSG00000118271 (gene set migration)
Additional findings_Paediatric v1.0 TTPA Gene migrated from ENSG00000137561 to ENSG00000137561 (gene set migration)
Additional findings_Paediatric v1.0 SKIC3 Gene symbol changed from TTC37 to SKIC3 during gene set migration (ENSG00000198677 -> ENSG00000198677)
Additional findings_Paediatric v1.0 TSHR Gene migrated from ENSG00000165409 to ENSG00000165409 (gene set migration)
Additional findings_Paediatric v1.0 TSHB Gene migrated from ENSG00000134200 to ENSG00000134200 (gene set migration)
Additional findings_Paediatric v1.0 TSEN54 Gene migrated from ENSG00000182173 to ENSG00000182173 (gene set migration)
Additional findings_Paediatric v1.0 TSC2 Gene migrated from ENSG00000103197 to ENSG00000103197 (gene set migration)
Additional findings_Paediatric v1.0 TRIM37 Gene migrated from ENSG00000108395 to ENSG00000108395 (gene set migration)
Additional findings_Paediatric v1.0 TRIM32 Gene migrated from ENSG00000119401 to ENSG00000119401 (gene set migration)
Additional findings_Paediatric v1.0 TRAPPC2 Gene migrated from ENSG00000196459 to ENSG00000196459 (gene set migration)
Additional findings_Paediatric v1.0 TPM3 Gene migrated from ENSG00000143549 to ENSG00000143549 (gene set migration)
Additional findings_Paediatric v1.0 TP53 Gene migrated from ENSG00000141510 to ENSG00000141510 (gene set migration)
Additional findings_Paediatric v1.0 TNNT1 Gene migrated from ENSG00000105048 to ENSG00000105048 (gene set migration)
Additional findings_Paediatric v1.0 TNFSF11 Gene migrated from ENSG00000120659 to ENSG00000120659 (gene set migration)
Additional findings_Paediatric v1.0 TNFRSF11B Gene migrated from ENSG00000164761 to ENSG00000164761 (gene set migration)
Additional findings_Paediatric v1.0 TMPRSS3 Gene migrated from ENSG00000160183 to ENSG00000160183 (gene set migration)
Additional findings_Paediatric v1.0 TMEM43 Gene migrated from ENSG00000170876 to ENSG00000170876 (gene set migration)
Additional findings_Paediatric v1.0 THRB Gene migrated from ENSG00000151090 to ENSG00000151090 (gene set migration)
Additional findings_Paediatric v1.0 THRA Gene migrated from ENSG00000126351 to ENSG00000126351 (gene set migration)
Additional findings_Paediatric v1.0 TGFBR2 Gene migrated from ENSG00000163513 to ENSG00000163513 (gene set migration)
Additional findings_Paediatric v1.0 TGFBR1 Gene migrated from ENSG00000106799 to ENSG00000106799 (gene set migration)
Additional findings_Paediatric v1.0 TG Gene migrated from ENSG00000042832 to ENSG00000042832 (gene set migration)
Additional findings_Paediatric v1.0 TFG Gene migrated from ENSG00000114354 to ENSG00000114354 (gene set migration)
Additional findings_Paediatric v1.0 TFAP2B Gene migrated from ENSG00000008196 to ENSG00000008196 (gene set migration)
Additional findings_Paediatric v1.0 TBX5 Gene migrated from ENSG00000089225 to ENSG00000089225 (gene set migration)
Additional findings_Paediatric v1.0 TBC1D24 Gene migrated from ENSG00000162065 to ENSG00000162065 (gene set migration)
Additional findings_Paediatric v1.0 TAFAZZIN Gene symbol changed from TAZ to TAFAZZIN during gene set migration (ENSG00000102125 -> ENSG00000102125)
Additional findings_Paediatric v1.0 SUCLG1 Gene migrated from ENSG00000163541 to ENSG00000163541 (gene set migration)
Additional findings_Paediatric v1.0 SUCLA2 Gene migrated from ENSG00000136143 to ENSG00000136143 (gene set migration)
Additional findings_Paediatric v1.0 STXBP2 Gene migrated from ENSG00000076944 to ENSG00000076944 (gene set migration)
Additional findings_Paediatric v1.0 STXBP1 Gene migrated from ENSG00000136854 to ENSG00000136854 (gene set migration)
Additional findings_Paediatric v1.0 STX11 Gene migrated from ENSG00000135604 to ENSG00000135604 (gene set migration)
Additional findings_Paediatric v1.0 STK11 Gene migrated from ENSG00000118046 to ENSG00000118046 (gene set migration)
Additional findings_Paediatric v1.0 STAT3 Gene migrated from ENSG00000168610 to ENSG00000168610 (gene set migration)
Additional findings_Paediatric v1.0 SRCAP Gene migrated from ENSG00000080603 to ENSG00000080603 (gene set migration)
Additional findings_Paediatric v1.0 SPTLC1 Gene migrated from ENSG00000090054 to ENSG00000090054 (gene set migration)
Additional findings_Paediatric v1.0 SPTB Gene migrated from ENSG00000070182 to ENSG00000070182 (gene set migration)
Additional findings_Paediatric v1.0 SPR Gene migrated from ENSG00000116096 to ENSG00000116096 (gene set migration)
Additional findings_Paediatric v1.0 SPINK5 Gene migrated from ENSG00000133710 to ENSG00000133710 (gene set migration)
Additional findings_Paediatric v1.0 SP110 Gene migrated from ENSG00000135899 to ENSG00000135899 (gene set migration)
Additional findings_Paediatric v1.0 SOX9 Gene migrated from ENSG00000125398 to ENSG00000125398 (gene set migration)
Additional findings_Paediatric v1.0 SMPX Gene migrated from ENSG00000091482 to ENSG00000091482 (gene set migration)
Additional findings_Paediatric v1.0 SMN1 Gene migrated from ENSG00000172062 to ENSG00000172062 (gene set migration)
Additional findings_Paediatric v1.0 SMC1A Gene migrated from ENSG00000072501 to ENSG00000072501 (gene set migration)
Additional findings_Paediatric v1.0 SMAD4 Gene migrated from ENSG00000141646 to ENSG00000141646 (gene set migration)
Additional findings_Paediatric v1.0 TBX1 Gene migrated from ENSG00000184058 to ENSG00000184058 (gene set migration)
Additional findings_Paediatric v1.0 SLC7A9 Gene migrated from ENSG00000021488 to ENSG00000021488 (gene set migration)
Additional findings_Paediatric v1.0 SLC7A7 Gene migrated from ENSG00000155465 to ENSG00000155465 (gene set migration)
Additional findings_Paediatric v1.0 SLC6A8 Gene migrated from ENSG00000130821 to ENSG00000130821 (gene set migration)
Additional findings_Paediatric v1.0 SMAD3 Gene migrated from ENSG00000166949 to ENSG00000166949 (gene set migration)
Additional findings_Paediatric v1.0 SLC4A11 Gene migrated from ENSG00000088836 to ENSG00000088836 (gene set migration)
Additional findings_Paediatric v1.0 SLC4A1 Gene migrated from ENSG00000004939 to ENSG00000004939 (gene set migration)
Additional findings_Paediatric v1.0 SLC46A1 Gene migrated from ENSG00000076351 to ENSG00000076351 (gene set migration)
Additional findings_Paediatric v1.0 SLC3A1 Gene migrated from ENSG00000138079 to ENSG00000138079 (gene set migration)
Additional findings_Paediatric v1.0 SLC37A4 Gene migrated from ENSG00000137700 to ENSG00000137700 (gene set migration)
Additional findings_Paediatric v1.0 SLC34A3 Gene migrated from ENSG00000198569 to ENSG00000198569 (gene set migration)
Additional findings_Paediatric v1.0 SLC34A2 Gene migrated from ENSG00000157765 to ENSG00000157765 (gene set migration)
Additional findings_Paediatric v1.0 SLC2A1 Gene migrated from ENSG00000117394 to ENSG00000117394 (gene set migration)
Additional findings_Paediatric v1.0 SLC26A2 Gene migrated from ENSG00000155850 to ENSG00000155850 (gene set migration)
Additional findings_Paediatric v1.0 SLC25A4 Gene migrated from ENSG00000151729 to ENSG00000151729 (gene set migration)
Additional findings_Paediatric v1.0 SLC25A20 Gene migrated from ENSG00000178537 to ENSG00000178537 (gene set migration)
Additional findings_Paediatric v1.0 SLC25A13 Gene migrated from ENSG00000004864 to ENSG00000004864 (gene set migration)
Additional findings_Paediatric v1.0 SLC22A5 Gene migrated from ENSG00000197375 to ENSG00000197375 (gene set migration)
Additional findings_Paediatric v1.0 SLC19A2 Gene migrated from ENSG00000117479 to ENSG00000117479 (gene set migration)
Additional findings_Paediatric v1.0 SLC17A5 Gene migrated from ENSG00000119899 to ENSG00000119899 (gene set migration)
Additional findings_Paediatric v1.0 SLC12A6 Gene migrated from ENSG00000140199 to ENSG00000140199 (gene set migration)
Additional findings_Paediatric v1.0 TPO Gene migrated from ENSG00000115705 to ENSG00000115705 (gene set migration)
Additional findings_Paediatric v1.0 SLC12A1 Gene migrated from ENSG00000074803 to ENSG00000074803 (gene set migration)
Additional findings_Paediatric v1.0 SKI Gene migrated from ENSG00000157933 to ENSG00000157933 (gene set migration)
Additional findings_Paediatric v1.0 SIX3 Gene migrated from ENSG00000138083 to ENSG00000138083 (gene set migration)
Additional findings_Paediatric v1.0 SH3TC2 Gene migrated from ENSG00000169247 to ENSG00000169247 (gene set migration)
Additional findings_Paediatric v1.0 SH2D1A Gene migrated from ENSG00000183918 to ENSG00000183918 (gene set migration)
Additional findings_Paediatric v1.0 SGSH Gene migrated from ENSG00000181523 to ENSG00000181523 (gene set migration)
Additional findings_Paediatric v1.0 SGCB Gene migrated from ENSG00000163069 to ENSG00000163069 (gene set migration)
Additional findings_Paediatric v1.0 SGCA Gene migrated from ENSG00000108823 to ENSG00000108823 (gene set migration)
Additional findings_Paediatric v1.0 SFTPB Gene migrated from ENSG00000168878 to ENSG00000168878 (gene set migration)
Additional findings_Paediatric v1.0 SETX Gene migrated from ENSG00000107290 to ENSG00000107290 (gene set migration)
Additional findings_Paediatric v1.0 SLC27A4 Gene migrated from ENSG00000167114 to ENSG00000167114 (gene set migration)
Additional findings_Paediatric v1.0 SELENON Gene migrated from ENSG00000162430 to ENSG00000162430 (gene set migration)
Additional findings_Paediatric v1.0 TFAP2A Gene migrated from ENSG00000137203 to ENSG00000137203 (gene set migration)
Additional findings_Paediatric v1.0 SCNN1A Gene migrated from ENSG00000111319 to ENSG00000111319 (gene set migration)
Additional findings_Paediatric v1.0 SCN11A Gene migrated from ENSG00000168356 to ENSG00000168356 (gene set migration)
Additional findings_Paediatric v1.0 SBDS Gene migrated from ENSG00000126524 to ENSG00000126524 (gene set migration)
Additional findings_Paediatric v1.0 SAMHD1 Gene migrated from ENSG00000101347 to ENSG00000101347 (gene set migration)
Additional findings_Paediatric v1.0 SACS Gene migrated from ENSG00000151835 to ENSG00000151835 (gene set migration)
Additional findings_Paediatric v1.0 RYR2 Gene migrated from ENSG00000198626 to ENSG00000198626 (gene set migration)
Additional findings_Paediatric v1.0 RUNX2 Gene migrated from ENSG00000124813 to ENSG00000124813 (gene set migration)
Additional findings_Paediatric v1.0 RSPH9 Gene migrated from ENSG00000172426 to ENSG00000172426 (gene set migration)
Additional findings_Paediatric v1.0 RS1 Gene migrated from ENSG00000102104 to ENSG00000102104 (gene set migration)
Additional findings_Paediatric v1.0 RRM2B Gene migrated from ENSG00000048392 to ENSG00000048392 (gene set migration)
Additional findings_Paediatric v1.0 RPS26 Gene migrated from ENSG00000197728 to ENSG00000197728 (gene set migration)
Additional findings_Paediatric v1.0 RPS19 Gene migrated from ENSG00000105372 to ENSG00000105372 (gene set migration)
Additional findings_Paediatric v1.0 RPS17 Gene migrated from ENSG00000182774 to ENSG00000182774 (gene set migration)
Additional findings_Paediatric v1.0 RPL5 Gene migrated from ENSG00000122406 to ENSG00000122406 (gene set migration)
Additional findings_Paediatric v1.0 RPL11 Gene migrated from ENSG00000142676 to ENSG00000142676 (gene set migration)
Additional findings_Paediatric v1.0 RPGRIP1L Gene migrated from ENSG00000103494 to ENSG00000103494 (gene set migration)
Additional findings_Paediatric v1.0 ROR2 Gene migrated from ENSG00000169071 to ENSG00000169071 (gene set migration)
Additional findings_Paediatric v1.0 RNASEH2B Gene migrated from ENSG00000136104 to ENSG00000136104 (gene set migration)
Additional findings_Paediatric v1.0 RNASEH2A Gene migrated from ENSG00000104889 to ENSG00000104889 (gene set migration)
Additional findings_Paediatric v1.0 RET Gene migrated from ENSG00000165731 to ENSG00000165731 (gene set migration)
Additional findings_Paediatric v1.0 RECQL4 Gene migrated from ENSG00000160957 to ENSG00000160957 (gene set migration)
Additional findings_Paediatric v1.0 RBM8A Gene migrated from ENSG00000265241 to ENSG00000265241 (gene set migration)
Additional findings_Paediatric v1.0 RASA1 Gene migrated from ENSG00000145715 to ENSG00000145715 (gene set migration)
Additional findings_Paediatric v1.0 RAPSN Gene migrated from ENSG00000165917 to ENSG00000165917 (gene set migration)
Additional findings_Paediatric v1.0 RAG1 Gene migrated from ENSG00000166349 to ENSG00000166349 (gene set migration)
Additional findings_Paediatric v1.0 RAB7A Gene migrated from ENSG00000075785 to ENSG00000075785 (gene set migration)
Additional findings_Paediatric v1.0 RAB27A Gene migrated from ENSG00000069974 to ENSG00000069974 (gene set migration)
Additional findings_Paediatric v1.0 QDPR Gene migrated from ENSG00000151552 to ENSG00000151552 (gene set migration)
Additional findings_Paediatric v1.0 PYGL Gene migrated from ENSG00000100504 to ENSG00000100504 (gene set migration)
Additional findings_Paediatric v1.0 PTS Gene migrated from ENSG00000150787 to ENSG00000150787 (gene set migration)
Additional findings_Paediatric v1.0 RAB3GAP1 Gene migrated from ENSG00000115839 to ENSG00000115839 (gene set migration)
Additional findings_Paediatric v1.0 PTPN11 Gene migrated from ENSG00000179295 to ENSG00000179295 (gene set migration)
Additional findings_Paediatric v1.0 PTCH1 Gene migrated from ENSG00000185920 to ENSG00000185920 (gene set migration)
Additional findings_Paediatric v1.0 PSAP Gene migrated from ENSG00000197746 to ENSG00000197746 (gene set migration)
Additional findings_Paediatric v1.0 PRX Gene migrated from ENSG00000105227 to ENSG00000105227 (gene set migration)
Additional findings_Paediatric v1.0 PROS1 Gene migrated from ENSG00000184500 to ENSG00000184500 (gene set migration)
Additional findings_Paediatric v1.0 POMT2 Gene migrated from ENSG00000009830 to ENSG00000009830 (gene set migration)
Additional findings_Paediatric v1.0 POMT1 Gene migrated from ENSG00000130714 to ENSG00000130714 (gene set migration)
Additional findings_Paediatric v1.0 POLH Gene migrated from ENSG00000170734 to ENSG00000170734 (gene set migration)
Additional findings_Paediatric v1.0 PNPO Gene migrated from ENSG00000108439 to ENSG00000108439 (gene set migration)
Additional findings_Paediatric v1.0 PNKD Gene migrated from ENSG00000127838 to ENSG00000127838 (gene set migration)
Additional findings_Paediatric v1.0 PMP22 Gene migrated from ENSG00000109099 to ENSG00000109099 (gene set migration)
Additional findings_Paediatric v1.0 PLP1 Gene migrated from ENSG00000123560 to ENSG00000123560 (gene set migration)
Additional findings_Paediatric v1.0 PLOD1 Gene migrated from ENSG00000083444 to ENSG00000083444 (gene set migration)
Additional findings_Paediatric v1.0 PLCE1 Gene migrated from ENSG00000138193 to ENSG00000138193 (gene set migration)
Additional findings_Paediatric v1.0 PLA2G6 Gene migrated from ENSG00000184381 to ENSG00000184381 (gene set migration)
Additional findings_Paediatric v1.0 PKHD1 Gene migrated from ENSG00000170927 to ENSG00000170927 (gene set migration)
Additional findings_Paediatric v1.0 PKD1 Gene migrated from ENSG00000008710 to ENSG00000008710 (gene set migration)
Additional findings_Paediatric v1.0 PINK1 Gene migrated from ENSG00000158828 to ENSG00000158828 (gene set migration)
Additional findings_Paediatric v1.0 PHYH Gene migrated from ENSG00000107537 to ENSG00000107537 (gene set migration)
Additional findings_Paediatric v1.0 PHKG2 Gene migrated from ENSG00000156873 to ENSG00000156873 (gene set migration)
Additional findings_Paediatric v1.0 PHKA2 Gene migrated from ENSG00000044446 to ENSG00000044446 (gene set migration)
Additional findings_Paediatric v1.0 PHF6 Gene migrated from ENSG00000156531 to ENSG00000156531 (gene set migration)
Additional findings_Paediatric v1.0 PEX7 Gene migrated from ENSG00000112357 to ENSG00000112357 (gene set migration)
Additional findings_Paediatric v1.0 PEX5 Gene migrated from ENSG00000139197 to ENSG00000139197 (gene set migration)
Additional findings_Paediatric v1.0 PEX26 Gene migrated from ENSG00000215193 to ENSG00000215193 (gene set migration)
Additional findings_Paediatric v1.0 PEX2 Gene migrated from ENSG00000164751 to ENSG00000164751 (gene set migration)
Additional findings_Paediatric v1.0 PEX13 Gene migrated from ENSG00000162928 to ENSG00000162928 (gene set migration)
Additional findings_Paediatric v1.0 GATA3 Gene migrated from ENSG00000107485 to ENSG00000107485 (gene set migration)
Additional findings_Paediatric v1.0 PEX12 Gene migrated from ENSG00000108733 to ENSG00000108733 (gene set migration)
Additional findings_Paediatric v1.0 PEX10 Gene migrated from ENSG00000157911 to ENSG00000157911 (gene set migration)
Additional findings_Paediatric v1.0 PDHX Gene migrated from ENSG00000110435 to ENSG00000110435 (gene set migration)
Additional findings_Paediatric v1.0 PDHA1 Gene migrated from ENSG00000131828 to ENSG00000131828 (gene set migration)
Additional findings_Paediatric v1.0 FOXI1 Gene migrated from ENSG00000168269 to ENSG00000168269 (gene set migration)
Additional findings_Paediatric v1.0 PDE4D Gene migrated from ENSG00000113448 to ENSG00000113448 (gene set migration)
Additional findings_Paediatric v1.0 PCNT Gene migrated from ENSG00000160299 to ENSG00000160299 (gene set migration)
Additional findings_Paediatric v1.0 PCDH15 Gene migrated from ENSG00000150275 to ENSG00000150275 (gene set migration)
Additional findings_Paediatric v1.0 PCCB Gene migrated from ENSG00000114054 to ENSG00000114054 (gene set migration)
Additional findings_Paediatric v1.0 EPS8 Gene migrated from ENSG00000151491 to ENSG00000151491 (gene set migration)
Additional findings_Paediatric v1.0 PCCA Gene migrated from ENSG00000175198 to ENSG00000175198 (gene set migration)
Additional findings_Paediatric v1.0 COL9A2 Gene migrated from ENSG00000049089 to ENSG00000049089 (gene set migration)
Additional findings_Paediatric v1.0 PAX8 Gene migrated from ENSG00000125618 to ENSG00000125618 (gene set migration)
Additional findings_Paediatric v1.0 PAX6 Gene migrated from ENSG00000007372 to ENSG00000007372 (gene set migration)
Additional findings_Paediatric v1.0 PEX3 Gene migrated from ENSG00000034693 to ENSG00000034693 (gene set migration)
Additional findings_Paediatric v1.0 PANK2 Gene migrated from ENSG00000125779 to ENSG00000125779 (gene set migration)
Additional findings_Paediatric v1.0 PAX3 Gene migrated from ENSG00000135903 to ENSG00000135903 (gene set migration)
Additional findings_Paediatric v1.0 PAK3 Gene migrated from ENSG00000077264 to ENSG00000077264 (gene set migration)
Additional findings_Paediatric v1.0 PAH Gene migrated from ENSG00000171759 to ENSG00000171759 (gene set migration)
Additional findings_Paediatric v1.0 OTOGL Gene migrated from ENSG00000165899 to ENSG00000165899 (gene set migration)
Additional findings_Paediatric v1.0 OTOF Gene migrated from ENSG00000115155 to ENSG00000115155 (gene set migration)
Additional findings_Paediatric v1.0 OTOA Gene migrated from ENSG00000155719 to ENSG00000155719 (gene set migration)
Additional findings_Paediatric v1.0 CARD11 Gene migrated from ENSG00000198286 to ENSG00000198286 (gene set migration)
Additional findings_Paediatric v1.0 ACOX1 Gene migrated from ENSG00000161533 to ENSG00000161533 (gene set migration)
Additional findings_Paediatric v1.0 ACE Gene migrated from ENSG00000159640 to ENSG00000159640 (gene set migration)
Additional findings_Paediatric v1.0 ACADM Gene migrated from ENSG00000117054 to ENSG00000117054 (gene set migration)
Additional findings_Paediatric v1.0 ABCC8 Gene migrated from ENSG00000006071 to ENSG00000006071 (gene set migration)
Additional findings_Paediatric v1.0 ABCC6 Gene migrated from ENSG00000091262 to ENSG00000091262 (gene set migration)
Additional findings_Paediatric v1.0 ABCA4 Gene migrated from ENSG00000198691 to ENSG00000198691 (gene set migration)
Additional findings_Paediatric v1.0 ABCA3 Gene migrated from ENSG00000167972 to ENSG00000167972 (gene set migration)
Additional findings_Paediatric v1.0 ABCA12 Gene migrated from ENSG00000144452 to ENSG00000144452 (gene set migration)
Additional findings_Paediatric v1.0 ACTG1 Gene migrated from ENSG00000184009 to ENSG00000184009 (gene set migration)
Additional findings_Paediatric v1.0 ACAD8 Gene migrated from ENSG00000151498 to ENSG00000151498 (gene set migration)
Additional findings_Paediatric v1.0 CD3D Gene migrated from ENSG00000167286 to ENSG00000167286 (gene set migration)
Additional findings_Paediatric v1.0 AHI1 Gene migrated from ENSG00000135541 to ENSG00000135541 (gene set migration)
Additional findings_Paediatric v1.0 ACAD9 Gene migrated from ENSG00000177646 to ENSG00000177646 (gene set migration)
Additional findings_Paediatric v1.0 CFL2 Gene migrated from ENSG00000165410 to ENSG00000165410 (gene set migration)
Additional findings_Paediatric v1.0 CDSN Gene migrated from ENSG00000204539 to ENSG00000204539 (gene set migration)
Additional findings_Paediatric v1.0 CAPN3 Gene migrated from ENSG00000092529 to ENSG00000092529 (gene set migration)
Additional findings_Paediatric v1.0 KCNA1 Gene migrated from ENSG00000111262 to ENSG00000111262 (gene set migration)
Additional findings_Paediatric v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.280
Additional findings_Paediatric v0.280 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.279 SNTA1 Zornitza Stark Marked gene: SNTA1 as ready
Additional findings_Paediatric v0.279 SNTA1 Zornitza Stark Gene: snta1 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.279 SNTA1 Zornitza Stark Classified gene: SNTA1 as Red List (low evidence)
Additional findings_Paediatric v0.279 SNTA1 Zornitza Stark Gene: snta1 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.278 H19 Zornitza Stark Tag non-coding gene tag was added to gene: H19.
Additional findings_Paediatric v0.278 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; Phenotypes: LIG4 syndrome, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.278 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome to ATR-X-related syndrome MONDO:0016980
Additional findings_Paediatric v0.277 PLS1 Zornitza Stark Marked gene: PLS1 as ready
Additional findings_Paediatric v0.277 PLS1 Zornitza Stark Gene: pls1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.277 PLS1 Zornitza Stark Classified gene: PLS1 as Green List (high evidence)
Additional findings_Paediatric v0.277 PLS1 Zornitza Stark Gene: pls1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.276 KAT6B Zornitza Stark Marked gene: KAT6B as ready
Additional findings_Paediatric v0.276 KAT6B Zornitza Stark Gene: kat6b has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.276 KAT6B Zornitza Stark Phenotypes for gene: KAT6B were changed from Genitopatellar syndrome to SBBYSS syndrome MIM #603736; Genitopatellar syndrome MIM #606170
Additional findings_Paediatric v0.275 KAT6B Zornitza Stark Mode of inheritance for gene: KAT6B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.274 KAT6B Zornitza Stark reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: SBBYSS syndrome MIM #603736, Genitopatellar syndrome MIM #606170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.274 APOB Zornitza Stark Marked gene: APOB as ready
Additional findings_Paediatric v0.274 APOB Zornitza Stark Gene: apob has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.274 APOB Zornitza Stark Phenotypes for gene: APOB were changed from Apolipoprotein B deficiency to Hypercholesterolaemia, familial, 2, MIM# 144010; Hypobetalipoproteinaemia 615558
Additional findings_Paediatric v0.273 APOB Zornitza Stark Mode of inheritance for gene: APOB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.272 APOB Zornitza Stark reviewed gene: APOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolaemia, familial, 2, MIM# 144010, Hypobetalipoproteinaemia 615558; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.272 ACADS Zornitza Stark Phenotypes for gene: ACADS were changed from Acyl-CoA dehydrogenase, short-chain, deficiency of to Acyl-CoA dehydrogenase, short-chain, deficiency of 201470
Additional findings_Paediatric v0.271 ACADS Zornitza Stark Classified gene: ACADS as Red List (low evidence)
Additional findings_Paediatric v0.271 ACADS Zornitza Stark Gene: acads has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.270 ACADS Zornitza Stark changed review comment from: SCAD deficiency is an autosomal recessive metabolic disorder of fatty acid beta-oxidation. Clinical features are variable: a severe form of the disorder can cause infantile onset of acidosis and neurologic impairment, whereas some patients develop only myopathy. Definitive gene-disease association. Rated category 'C' by BabySeq, due to moderate penetrance and lack of actionability. Some mildly affected individuals are being identified as part of newborn screening programs. However, a diagnosis of this disorder has the potential for avoidance of unnecessary investigations, therefore promoted to Green.; to: SCAD deficiency is an autosomal recessive metabolic disorder of fatty acid beta-oxidation. Clinical features are variable: a severe form of the disorder can cause infantile onset of acidosis and neurologic impairment, whereas some patients develop only myopathy. Definitive gene-disease association. Rated category 'C' by BabySeq, due to moderate penetrance and lack of actionability.
Additional findings_Paediatric v0.270 ACADS Zornitza Stark edited their review of gene: ACADS: Added comment: Definitive by ClinGen. However, largely just causes a biochemical abnormality, and association with clinical disease is debated.; Changed rating: RED
Additional findings_Paediatric v0.270 MCCC2 Zornitza Stark Marked gene: MCCC2 as ready
Additional findings_Paediatric v0.270 MCCC2 Zornitza Stark Gene: mccc2 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.270 MCCC2 Zornitza Stark Classified gene: MCCC2 as Red List (low evidence)
Additional findings_Paediatric v0.270 MCCC2 Zornitza Stark Gene: mccc2 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.269 MCCC2 Zornitza Stark reviewed gene: MCCC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Additional findings_Paediatric v0.269 CCDC50 Zornitza Stark Phenotypes for gene: CCDC50 were changed from childhood onset deafness, progressive to Deafness, autosomal dominant 44 , MIM# 607453
Additional findings_Paediatric v0.268 CCDC50 Zornitza Stark Publications for gene: CCDC50 were set to
Additional findings_Paediatric v0.267 CCDC50 Zornitza Stark Classified gene: CCDC50 as Red List (low evidence)
Additional findings_Paediatric v0.267 CCDC50 Zornitza Stark Gene: ccdc50 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.266 CCDC50 Zornitza Stark reviewed gene: CCDC50: Rating: RED; Mode of pathogenicity: None; Publications: 17503326, 27911912, 24875298; Phenotypes: Deafness, autosomal dominant 44 , MIM# 607453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.266 ABCC6 Zornitza Stark Tag SV/CNV tag was added to gene: ABCC6.
Additional findings_Paediatric v0.266 MYH7 Zornitza Stark Phenotypes for gene: MYH7 were changed from Myopathy and cardiomyopathy MIM#160760 to Cardiomyopathy, hypertrophic, 1, OMIM:192600; Laing early-onset distal myopathy, MONDO:0008050; Left ventricular noncompaction 5, OMIM:613426; Cardiomyopathy, dilated, 1S, OMIM:613426; Hypertrophic cardiomyopathy 1, MONDO:0008647; Laing distal myopathy, OMIM:160500; Dilated cardiomyopathy 1S, MONDO:0013262
Additional findings_Paediatric v0.265 MYH7 Zornitza Stark edited their review of gene: MYH7: Changed phenotypes: Cardiomyopathy, hypertrophic, 1, OMIM:192600, Laing early-onset distal myopathy, MONDO:0008050, Left ventricular noncompaction 5, OMIM:613426, Cardiomyopathy, dilated, 1S, OMIM:613426, Hypertrophic cardiomyopathy 1, MONDO:0008647, Laing distal myopathy, OMIM:160500, Dilated cardiomyopathy 1S, MONDO:0013262
Additional findings_Paediatric v0.265 MYH7 Zornitza Stark reviewed gene: MYH7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 1, OMIM:192600 Laing early-onset distal myopathy, MONDO:0008050 Left ventricular noncompaction 5, OMIM:613426 Cardiomyopathy, dilated, 1S, OMIM:613426 Hypertrophic cardiomyopathy 1, MONDO:0008647, Laing distal myopathy, OMIM:160500, Dilated cardiomyopathy 1S, MONDO:0013262; Mode of inheritance: None
Additional findings_Paediatric v0.265 Zornitza Stark removed gene:WNT10A from the panel
Additional findings_Paediatric v0.264 CSF2RA Zornitza Stark Marked gene: CSF2RA as ready
Additional findings_Paediatric v0.264 CSF2RA Zornitza Stark Gene: csf2ra has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.264 CSF2RA Zornitza Stark Phenotypes for gene: CSF2RA were changed from Pulmonary alveolar proteinosis to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770
Additional findings_Paediatric v0.263 CSF2RA Zornitza Stark Publications for gene: CSF2RA were set to
Additional findings_Paediatric v0.262 CSF2RA Zornitza Stark Mode of inheritance for gene: CSF2RA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.261 CSF2RA Zornitza Stark reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 20622029, 25425184, 18955570; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.261 EFHC1 Zornitza Stark Marked gene: EFHC1 as ready
Additional findings_Paediatric v0.261 EFHC1 Zornitza Stark Gene: efhc1 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.261 EFHC1 Zornitza Stark Phenotypes for gene: EFHC1 were changed from Myoclonic epilepsy to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
Additional findings_Paediatric v0.260 EFHC1 Zornitza Stark Publications for gene: EFHC1 were set to
Additional findings_Paediatric v0.259 EFHC1 Zornitza Stark Classified gene: EFHC1 as Red List (low evidence)
Additional findings_Paediatric v0.259 EFHC1 Zornitza Stark Gene: efhc1 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.258 EFHC1 Zornitza Stark reviewed gene: EFHC1: Rating: RED; Mode of pathogenicity: None; Publications: 31056551, 28370826, 29750216, 33969125, 33181902; Phenotypes: {Epilepsy, juvenile absence, susceptibility to, 1}, 607631, {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.258 H19 Zornitza Stark Marked gene: H19 as ready
Additional findings_Paediatric v0.258 H19 Zornitza Stark Gene: h19 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.258 H19 Zornitza Stark Classified gene: H19 as Red List (low evidence)
Additional findings_Paediatric v0.258 H19 Zornitza Stark Gene: h19 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.257 H19 Zornitza Stark reviewed gene: H19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Additional findings_Paediatric v0.257 AIP Zornitza Stark reviewed gene: AIP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Additional findings_Paediatric v0.257 AIP Paul De Fazio reviewed gene: AIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16728643, 17360484, 26187128; Phenotypes: Pituitary adenoma predisposition MIM#102200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Additional findings_Paediatric v0.257 PTPRC Zornitza Stark Phenotypes for gene: PTPRC were changed from Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 151460 to Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971
Additional findings_Paediatric v0.256 SLC41A1 Zornitza Stark Marked gene: SLC41A1 as ready
Additional findings_Paediatric v0.256 SLC41A1 Zornitza Stark Gene: slc41a1 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.256 SLC41A1 Zornitza Stark Phenotypes for gene: SLC41A1 were changed from Parkinson disease, idiopathic to Nephronophthisis-like nephropathy 2, MIM# 619468
Additional findings_Paediatric v0.255 SLC41A1 Zornitza Stark Publications for gene: SLC41A1 were set to
Additional findings_Paediatric v0.254 SLC41A1 Zornitza Stark Mode of inheritance for gene: SLC41A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.253 SLC41A1 Zornitza Stark reviewed gene: SLC41A1: Rating: RED; Mode of pathogenicity: None; Publications: 23661805; Phenotypes: Nephronophthisis-like nephropathy 2, MIM# 619468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.253 ANK2 Zornitza Stark Phenotypes for gene: ANK2 were changed from Long QT syndrome to Complex neurodevelopmental disorder, MONDO:0100038
Additional findings_Paediatric v0.252 ANK2 Zornitza Stark Classified gene: ANK2 as Green List (high evidence)
Additional findings_Paediatric v0.252 ANK2 Zornitza Stark Gene: ank2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.251 ANK2 Zornitza Stark reviewed gene: ANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22542183, 25363768, 27479843, 28554332, 30564305, 30755392, 31981491, 33004838, 33057194; Phenotypes: Complex neurodevelopmental disorder, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.250 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Additional findings_Paediatric v0.250 TTC21B Zornitza Stark Gene: ttc21b has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.250 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from Bardet-Biedl syndrome to Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819
Additional findings_Paediatric v0.249 TTC21B Zornitza Stark Publications for gene: TTC21B were set to
Additional findings_Paediatric v0.248 TTC21B Zornitza Stark Classified gene: TTC21B as Green List (high evidence)
Additional findings_Paediatric v0.248 TTC21B Zornitza Stark Gene: ttc21b has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.247 TTC21B Zornitza Stark reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258341, 25492405, 18327258, 33875766; Phenotypes: Nephronophthisis 12, MIM# 613820, Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.247 NEK8 Zornitza Stark Marked gene: NEK8 as ready
Additional findings_Paediatric v0.247 NEK8 Zornitza Stark Gene: nek8 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.247 NEK8 Zornitza Stark Phenotypes for gene: NEK8 were changed from Nephronophthisis to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174
Additional findings_Paediatric v0.246 NEK8 Zornitza Stark Publications for gene: NEK8 were set to
Additional findings_Paediatric v0.245 NEK8 Zornitza Stark Classified gene: NEK8 as Green List (high evidence)
Additional findings_Paediatric v0.245 NEK8 Zornitza Stark Gene: nek8 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.244 NEK8 Zornitza Stark reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33131162, 23418306, 26862157, 26697755, 26967905, 23274954, 31633649; Phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.244 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Additional findings_Paediatric v0.244 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.244 CEP83 Zornitza Stark Classified gene: CEP83 as Green List (high evidence)
Additional findings_Paediatric v0.244 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.243 CEP83 Zornitza Stark gene: CEP83 was added
gene: CEP83 was added to Additional findings_Paediatric. Sources: Expert Review
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP83 were set to 24882706; 33938610
Phenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID
Review for gene: CEP83 was set to GREEN
Added comment: PMID 24882706: 8 children from 7 families with early-onset nephronophthisis resulting in end-stage renal disease between 1 and 4 years of age. Four patients also had neurologic problems, including speech delay, intellectual disability, and/or hydrocephalus. One patient had retinitis, another had strabismus, and 2 had liver changes, including hepatic cytolysis, cholestasis, and portal septal fibrosis.

PMID 33938610: two unrelated individuals with retinal dystrophy and no renal disease.
Sources: Expert Review
Additional findings_Paediatric v0.242 SLCO2A1 Zornitza Stark Marked gene: SLCO2A1 as ready
Additional findings_Paediatric v0.242 SLCO2A1 Zornitza Stark Gene: slco2a1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.242 SLCO2A1 Zornitza Stark Phenotypes for gene: SLCO2A1 were changed from Hypertrophic osteoarthropathy, primary, autosomal recessive 2 to Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100; Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441
Additional findings_Paediatric v0.241 SLCO2A1 Zornitza Stark Publications for gene: SLCO2A1 were set to
Additional findings_Paediatric v0.240 SLCO2A1 Zornitza Stark Mode of inheritance for gene: SLCO2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.239 SLCO2A1 Zornitza Stark reviewed gene: SLCO2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23509104, 27134495, 33852188, 22331663, 27134495; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100, Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.239 WRAP53 Zornitza Stark Marked gene: WRAP53 as ready
Additional findings_Paediatric v0.239 WRAP53 Zornitza Stark Gene: wrap53 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.239 WRAP53 Zornitza Stark Phenotypes for gene: WRAP53 were changed from Dyskeratosis congenita to Dyskeratosis congenita, autosomal recessive 3, MIM# 613988
Additional findings_Paediatric v0.238 WRAP53 Zornitza Stark Publications for gene: WRAP53 were set to
Additional findings_Paediatric v0.237 WRAP53 Zornitza Stark Classified gene: WRAP53 as Green List (high evidence)
Additional findings_Paediatric v0.237 WRAP53 Zornitza Stark Gene: wrap53 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.236 WRAP53 Zornitza Stark reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 21205863, 32303682, 29514627; Phenotypes: Dyskeratosis congenita, autosomal recessive 3, MIM# 613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.236 KLF1 Zornitza Stark Marked gene: KLF1 as ready
Additional findings_Paediatric v0.236 KLF1 Zornitza Stark Gene: klf1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.236 KLF1 Zornitza Stark Phenotypes for gene: KLF1 were changed from Anemia, dyserythropoietic congenital, type IV to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355
Additional findings_Paediatric v0.235 KLF1 Zornitza Stark Publications for gene: KLF1 were set to
Additional findings_Paediatric v0.234 KLF1 Zornitza Stark Classified gene: KLF1 as Green List (high evidence)
Additional findings_Paediatric v0.234 KLF1 Zornitza Stark Gene: klf1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.233 KLF1 Zornitza Stark reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21055716, 33339573, 32815883, 32221653, 32032242, 31818881; Phenotypes: Dyserythropoietic anaemia, congenital, type IV, MIM# 613673, MONDO:0013355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.233 ANKRD26 Zornitza Stark Tag 5'UTR tag was added to gene: ANKRD26.
Additional findings_Paediatric v0.233 ANKRD26 Zornitza Stark reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211618; Phenotypes: Thrombocytopaenia 2, MIM# 188000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.233 MYBPC1 Zornitza Stark Marked gene: MYBPC1 as ready
Additional findings_Paediatric v0.233 MYBPC1 Zornitza Stark Gene: mybpc1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.233 MYBPC1 Zornitza Stark Phenotypes for gene: MYBPC1 were changed from Distal arthrogryposis type I to Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4, MIM# 614915; Myopathy, congenital, with tremor MIM#618524
Additional findings_Paediatric v0.232 MYBPC1 Zornitza Stark Publications for gene: MYBPC1 were set to
Additional findings_Paediatric v0.231 MYBPC1 Zornitza Stark Mode of inheritance for gene: MYBPC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.230 MYBPC1 Zornitza Stark Classified gene: MYBPC1 as Green List (high evidence)
Additional findings_Paediatric v0.230 MYBPC1 Zornitza Stark Gene: mybpc1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.229 MYBPC1 Zornitza Stark reviewed gene: MYBPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20045868, 22610851, 23873045, 26661508, 31264822, 31025394; Phenotypes: Arthrogryposis, distal, type 1B 614335, Lethal congenital contracture syndrome 4, MIM# 614915, Myopathy, congenital, with tremor MIM#618524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.229 PLG Zornitza Stark Marked gene: PLG as ready
Additional findings_Paediatric v0.229 PLG Zornitza Stark Gene: plg has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.229 PLG Zornitza Stark Phenotypes for gene: PLG were changed from Plasminogen deficiency to Hereditary angioedema-4 (HAE4), MIM#619360; Plasminogen deficiency, type I, MIM# 217090
Additional findings_Paediatric v0.228 PLG Zornitza Stark Publications for gene: PLG were set to
Additional findings_Paediatric v0.227 PLG Zornitza Stark Mode of inheritance for gene: PLG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.226 PLG Zornitza Stark reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 28795768, 29548426, 29987869, 9242524, 10233898, 21174000, 21174000; Phenotypes: Hereditary angioedema-4 (HAE4), MIM#619360, Plasminogen deficiency, type I, MIM# 217090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.226 SHANK3 Zornitza Stark Marked gene: SHANK3 as ready
Additional findings_Paediatric v0.226 SHANK3 Zornitza Stark Gene: shank3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.226 SHANK3 Zornitza Stark Phenotypes for gene: SHANK3 were changed from Phelan-McDermid syndrome to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652
Additional findings_Paediatric v0.225 SHANK3 Zornitza Stark Publications for gene: SHANK3 were set to
Additional findings_Paediatric v0.224 SHANK3 Zornitza Stark Tag SV/CNV tag was added to gene: SHANK3.
Additional findings_Paediatric v0.224 SHANK3 Zornitza Stark reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30842224, 16284256, 17173049, 20186804, 22892527; Phenotypes: Phelan-McDermid syndrome, MIM# 606232, MONDO:0011652; Mode of inheritance: None
Additional findings_Paediatric v0.224 P2RY12 Zornitza Stark Phenotypes for gene: P2RY12 were changed from Bleeding disorder, platelet-type, 8 MIM# 609821 to Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354
Additional findings_Paediatric v0.223 P2RY12 Zornitza Stark Publications for gene: P2RY12 were set to
Additional findings_Paediatric v0.222 P2RY12 Zornitza Stark Mode of inheritance for gene: P2RY12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.221 P2RY12 Zornitza Stark reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: None; Publications: 11196645, 12578987, 29117459, 19237732; Phenotypes: Bleeding disorder, platelet-type, 8, MIM# 609821, MONDO:0012354; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.221 Zornitza Stark removed gene:TGFBR3 from the panel
Additional findings_Paediatric v0.220 RETREG1 Zornitza Stark Marked gene: RETREG1 as ready
Additional findings_Paediatric v0.220 RETREG1 Zornitza Stark Gene: retreg1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.220 RETREG1 Zornitza Stark Phenotypes for gene: RETREG1 were changed from Neuropathy, hereditary sensory and autonomic, type IIB to Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; MONDO:0013142
Additional findings_Paediatric v0.219 RETREG1 Zornitza Stark Publications for gene: RETREG1 were set to
Additional findings_Paediatric v0.218 RETREG1 Zornitza Stark Classified gene: RETREG1 as Green List (high evidence)
Additional findings_Paediatric v0.218 RETREG1 Zornitza Stark Gene: retreg1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.217 RETREG1 Zornitza Stark reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19838196, 24327336, 31737055, 31596031; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115, MONDO:0013142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.217 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Additional findings_Paediatric v0.217 NEK1 Zornitza Stark Gene: nek1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.217 NEK1 Zornitza Stark Phenotypes for gene: NEK1 were changed from Short rib-polydactyly syndorme, type II to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Additional findings_Paediatric v0.216 NEK1 Zornitza Stark Publications for gene: NEK1 were set to
Additional findings_Paediatric v0.215 NEK1 Zornitza Stark Classified gene: NEK1 as Green List (high evidence)
Additional findings_Paediatric v0.215 NEK1 Zornitza Stark Gene: nek1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.214 NEK1 Zornitza Stark reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.214 MED25 Zornitza Stark Marked gene: MED25 as ready
Additional findings_Paediatric v0.214 MED25 Zornitza Stark Gene: med25 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.214 MED25 Zornitza Stark Phenotypes for gene: MED25 were changed from Charcot-Marie-Tooth disease to Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643
Additional findings_Paediatric v0.213 MED25 Zornitza Stark Publications for gene: MED25 were set to
Additional findings_Paediatric v0.212 MED25 Zornitza Stark Classified gene: MED25 as Green List (high evidence)
Additional findings_Paediatric v0.212 MED25 Zornitza Stark Gene: med25 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.211 MED25 Zornitza Stark reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: None; Publications: 25792360, 32816121; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449, Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.211 FBN2 Zornitza Stark Marked gene: FBN2 as ready
Additional findings_Paediatric v0.211 FBN2 Zornitza Stark Gene: fbn2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.211 FBN2 Zornitza Stark Phenotypes for gene: FBN2 were changed from Contractural arachnodactyly to Contractural arachnodactyly, congenital MIM#121050
Additional findings_Paediatric v0.210 FBN2 Zornitza Stark Publications for gene: FBN2 were set to
Additional findings_Paediatric v0.209 FBN2 Zornitza Stark Mode of inheritance for gene: FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.208 FBN2 Zornitza Stark reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33571691; Phenotypes: Contractural arachnodactyly, congenital MIM#121050; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.208 AP4M1 Zornitza Stark Classified gene: AP4M1 as Green List (high evidence)
Additional findings_Paediatric v0.208 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.207 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Additional findings_Paediatric v0.207 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.207 AP4M1 Zornitza Stark Phenotypes for gene: AP4M1 were changed from Spastic paraplegia 50, autosomal recessive to Spastic paraplegia 50, autosomal recessive, MIM# 612936
Additional findings_Paediatric v0.206 AP4M1 Zornitza Stark Publications for gene: AP4M1 were set to
Additional findings_Paediatric v0.205 AP4M1 Zornitza Stark reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559397, 21937992, 21937992, 32979048, 31915823, 29096665, 28464862, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.205 AP4B1 Zornitza Stark Marked gene: AP4B1 as ready
Additional findings_Paediatric v0.205 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.205 AP4B1 Zornitza Stark Classified gene: AP4B1 as Green List (high evidence)
Additional findings_Paediatric v0.205 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.204 AP4B1 Zornitza Stark gene: AP4B1 was added
gene: AP4B1 was added to Additional findings_Paediatric. Sources: Expert Review
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4B1 were set to 21620353; 22290197; 24700674; 24781758; 32979048; 32171285; 32166732; 31525725; 31525725
Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, MIM# 614066
Review for gene: AP4B1 was set to GREEN
Added comment: Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development. More than 10 unrelated families reported.
Sources: Expert Review
Additional findings_Paediatric v0.203 AP4E1 Zornitza Stark Marked gene: AP4E1 as ready
Additional findings_Paediatric v0.203 AP4E1 Zornitza Stark Gene: ap4e1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.203 AP4E1 Zornitza Stark Classified gene: AP4E1 as Green List (high evidence)
Additional findings_Paediatric v0.203 AP4E1 Zornitza Stark Gene: ap4e1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.202 AP4E1 Zornitza Stark gene: AP4E1 was added
gene: AP4E1 was added to Additional findings_Paediatric. Sources: Expert Review
Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4E1 were set to 20972249; 21620353; 21937992; 32979048; 23472171
Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, MIM# 613744
Review for gene: AP4E1 was set to GREEN
Added comment: Spastic paraplegia-51 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 5 unrelated families reported.
Sources: Expert Review
Additional findings_Paediatric v0.201 CDT1 Zornitza Stark Marked gene: CDT1 as ready
Additional findings_Paediatric v0.201 CDT1 Zornitza Stark Gene: cdt1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.201 CDT1 Zornitza Stark Phenotypes for gene: CDT1 were changed from Meier-Gorlin syndrome to Meier-Gorlin syndrome 4, MIM# 613804; MONDO:0013431
Additional findings_Paediatric v0.200 CDT1 Zornitza Stark Publications for gene: CDT1 were set to
Additional findings_Paediatric v0.199 CDT1 Zornitza Stark Classified gene: CDT1 as Green List (high evidence)
Additional findings_Paediatric v0.199 CDT1 Zornitza Stark Gene: cdt1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.198 CDT1 Zornitza Stark reviewed gene: CDT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 21358631, 33338304, 22333897; Phenotypes: Meier-Gorlin syndrome 4, MIM# 613804, MONDO:0013431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.198 CDK5RAP2 Zornitza Stark Marked gene: CDK5RAP2 as ready
Additional findings_Paediatric v0.198 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.198 CDK5RAP2 Zornitza Stark Phenotypes for gene: CDK5RAP2 were changed from Microcephaly 3, primary, autosomal recessive to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488
Additional findings_Paediatric v0.197 CDK5RAP2 Zornitza Stark Classified gene: CDK5RAP2 as Green List (high evidence)
Additional findings_Paediatric v0.197 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.196 CDK5RAP2 Zornitza Stark reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15793586, 22887808, 23995685, 23726037, 27761245, 20460369, 32677750, 32015000; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804, MONDO:0011488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.196 ITGA3 Zornitza Stark Marked gene: ITGA3 as ready
Additional findings_Paediatric v0.196 ITGA3 Zornitza Stark Gene: itga3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.196 ITGA3 Zornitza Stark Classified gene: ITGA3 as Green List (high evidence)
Additional findings_Paediatric v0.196 ITGA3 Zornitza Stark Gene: itga3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.195 ITGA3 Zornitza Stark reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22512483, 25810266, 27717396, 32198874, 26854491; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.195 ACSF3 Zornitza Stark Marked gene: ACSF3 as ready
Additional findings_Paediatric v0.195 ACSF3 Zornitza Stark Gene: acsf3 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.195 ACSF3 Zornitza Stark Publications for gene: ACSF3 were set to
Additional findings_Paediatric v0.194 ACSF3 Zornitza Stark Classified gene: ACSF3 as Red List (low evidence)
Additional findings_Paediatric v0.194 ACSF3 Zornitza Stark Gene: acsf3 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.193 ACSF3 Zornitza Stark reviewed gene: ACSF3: Rating: RED; Mode of pathogenicity: None; Publications: 21841779, 30740739; Phenotypes: Combined malonic and methylmalonic aciduria MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.193 NEUROG3 Zornitza Stark Marked gene: NEUROG3 as ready
Additional findings_Paediatric v0.193 NEUROG3 Zornitza Stark Gene: neurog3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.193 NEUROG3 Zornitza Stark Phenotypes for gene: NEUROG3 were changed from Diarrhea 4, malabsorptive, congenital to Diarrhoea 4, malabsorptive, congenital, MIM# 610370
Additional findings_Paediatric v0.192 NEUROG3 Zornitza Stark Publications for gene: NEUROG3 were set to
Additional findings_Paediatric v0.191 NEUROG3 Zornitza Stark Classified gene: NEUROG3 as Green List (high evidence)
Additional findings_Paediatric v0.191 NEUROG3 Zornitza Stark Gene: neurog3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.190 NEUROG3 Zornitza Stark reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16855267, 32574610, 28724572, 21490072; Phenotypes: Diarrhoea 4, malabsorptive, congenital, MIM# 610370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.190 PRPS1 Lilian Downie reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Additional findings_Paediatric v0.190 PLS1 Lilian Downie gene: PLS1 was added
gene: PLS1 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: PLS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PLS1 were set to Deafness
Review for gene: PLS1 was set to GREEN
Added comment: Deafness_isolated list
Sources: Expert list
Additional findings_Paediatric v0.190 OTOG Lilian Downie reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 18B, MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.190 OSBPL2 Lilian Downie gene: OSBPL2 was added
gene: OSBPL2 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: OSBPL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OSBPL2 were set to Deafness, autosomal dominant 67, MIM# 616340
Review for gene: OSBPL2 was set to GREEN
Added comment: From deafness_isolated
Sources: Expert list
Additional findings_Paediatric v0.190 MSRB3 Lilian Downie reviewed gene: MSRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.190 MPZL2 Lilian Downie gene: MPZL2 was added
gene: MPZL2 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: MPZL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPZL2 were set to Deafness, autosomal recessive 111, MIM#618145
Review for gene: MPZL2 was set to GREEN
Added comment: From deafness_isolated
Sources: Expert list
Additional findings_Paediatric v0.190 LMX1A Lilian Downie gene: LMX1A was added
gene: LMX1A was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: LMX1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LMX1A were set to Deafness MIM#601412
Added comment: Can be paediatric or adult onset ?inclusion
Sources: Expert list
Additional findings_Paediatric v0.190 KCNQ1 Lilian Downie reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome MIM#220400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.190 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Additional findings_Paediatric v0.190 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.190 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from Warburg micro syndrome to Warburg micro syndrome 2, MIM# 614225
Additional findings_Paediatric v0.189 RAB3GAP2 Zornitza Stark Publications for gene: RAB3GAP2 were set to
Additional findings_Paediatric v0.188 RAB3GAP2 Zornitza Stark Classified gene: RAB3GAP2 as Green List (high evidence)
Additional findings_Paediatric v0.188 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.187 RAB3GAP2 Zornitza Stark reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23420520, 20967465; Phenotypes: Warburg micro syndrome 2, MIM# 614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.187 MGAT2 Zornitza Stark Marked gene: MGAT2 as ready
Additional findings_Paediatric v0.187 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.187 MGAT2 Zornitza Stark Phenotypes for gene: MGAT2 were changed from CDG syndrome type IIa to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908
Additional findings_Paediatric v0.186 MGAT2 Zornitza Stark Publications for gene: MGAT2 were set to
Additional findings_Paediatric v0.185 MGAT2 Zornitza Stark Classified gene: MGAT2 as Green List (high evidence)
Additional findings_Paediatric v0.185 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.184 MGAT2 Zornitza Stark reviewed gene: MGAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8808595, 11228641, 22105986, 33044030, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIa, MIM# 212066, MGAT2-CDG, MONDO:0008908; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.184 PIGA Zornitza Stark edited their review of gene: PIGA: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Additional findings_Paediatric v0.184 PIGA Zornitza Stark Marked gene: PIGA as ready
Additional findings_Paediatric v0.184 PIGA Zornitza Stark Gene: piga has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.184 PIGA Zornitza Stark Phenotypes for gene: PIGA were changed from Epileptic encephalopathy, early-onset to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466
Additional findings_Paediatric v0.183 PIGA Zornitza Stark Publications for gene: PIGA were set to
Additional findings_Paediatric v0.182 PIGA Zornitza Stark Classified gene: PIGA as Green List (high evidence)
Additional findings_Paediatric v0.182 PIGA Zornitza Stark Gene: piga has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.181 PIGA Zornitza Stark reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305531, 24357517, 24706016, 26545172, 33333793, 32694024; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.181 MPDU1 Zornitza Stark Marked gene: MPDU1 as ready
Additional findings_Paediatric v0.181 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.181 MPDU1 Zornitza Stark Phenotypes for gene: MPDU1 were changed from Congenital disorder of glycosylation, type If to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Additional findings_Paediatric v0.180 MPDU1 Zornitza Stark Publications for gene: MPDU1 were set to
Additional findings_Paediatric v0.179 MPDU1 Zornitza Stark Classified gene: MPDU1 as Green List (high evidence)
Additional findings_Paediatric v0.179 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.178 MPDU1 Zornitza Stark reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11733564, 11733556, 31741824, 29721919; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180, MPDU1-CDG, MONDO:0012211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.178 DOLK Zornitza Stark Marked gene: DOLK as ready
Additional findings_Paediatric v0.178 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.178 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation, type Im to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768
Additional findings_Paediatric v0.177 DOLK Zornitza Stark Publications for gene: DOLK were set to
Additional findings_Paediatric v0.176 DOLK Zornitza Stark Classified gene: DOLK as Green List (high evidence)
Additional findings_Paediatric v0.176 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.175 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.175 COG5 Zornitza Stark Marked gene: COG5 as ready
Additional findings_Paediatric v0.175 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.175 COG5 Zornitza Stark Publications for gene: COG5 were set to
Additional findings_Paediatric v0.174 COG5 Zornitza Stark Classified gene: COG5 as Green List (high evidence)
Additional findings_Paediatric v0.174 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.173 COG5 Zornitza Stark reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23228021, 31572517, 32174980; Phenotypes: Congenital disorder of glycosylation, type IIi, MIM# 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.173 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Additional findings_Paediatric v0.173 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.173 LARS2 Zornitza Stark Classified gene: LARS2 as Green List (high evidence)
Additional findings_Paediatric v0.173 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.172 KARS Zornitza Stark Marked gene: KARS as ready
Additional findings_Paediatric v0.172 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.172 KARS Zornitza Stark Phenotypes for gene: KARS were changed from Hearing loss; Charcot-Marie-Tooth disease, recessive intermediate to deafness with progressive leukodystrophy
Additional findings_Paediatric v0.171 KARS Zornitza Stark Publications for gene: KARS were set to
Additional findings_Paediatric v0.170 KARS Zornitza Stark Classified gene: KARS as Green List (high evidence)
Additional findings_Paediatric v0.170 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.169 HOMER2 Zornitza Stark Marked gene: HOMER2 as ready
Additional findings_Paediatric v0.169 HOMER2 Zornitza Stark Gene: homer2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.169 HOMER2 Zornitza Stark Classified gene: HOMER2 as Green List (high evidence)
Additional findings_Paediatric v0.169 HOMER2 Zornitza Stark Gene: homer2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.168 HGF Zornitza Stark Marked gene: HGF as ready
Additional findings_Paediatric v0.168 HGF Zornitza Stark Gene: hgf has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.168 HGF Zornitza Stark Classified gene: HGF as Green List (high evidence)
Additional findings_Paediatric v0.168 HGF Zornitza Stark Gene: hgf has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.167 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Additional findings_Paediatric v0.167 HARS2 Zornitza Stark Gene: hars2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.167 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from Perrault syndrome to Perrault syndrome; autosomal recessive sensorineural hearing loss
Additional findings_Paediatric v0.166 HARS2 Zornitza Stark Classified gene: HARS2 as Green List (high evidence)
Additional findings_Paediatric v0.166 HARS2 Zornitza Stark Gene: hars2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.165 GRHL2 Zornitza Stark reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal dominant hearing loss, MIM# 608641; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.165 GRHL2 Zornitza Stark Marked gene: GRHL2 as ready
Additional findings_Paediatric v0.165 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.165 GRHL2 Zornitza Stark Phenotypes for gene: GRHL2 were changed from Hearing loss to Autosomal dominant hearing loss, MIM# 608641
Additional findings_Paediatric v0.164 GRHL2 Zornitza Stark Classified gene: GRHL2 as Green List (high evidence)
Additional findings_Paediatric v0.164 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.163 LARS2 Lilian Downie reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.163 KARS Lilian Downie reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30737337, 31116475, 30715177; Phenotypes: deafness with progressive leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.163 HOMER2 Lilian Downie gene: HOMER2 was added
gene: HOMER2 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: HOMER2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HOMER2 were set to Autosomal dominant non syndromic deafness
Review for gene: HOMER2 was set to GREEN
Added comment: Moderate by ClinGen hearing loss expert committee. Isolated hearing impairment onset in first decade of life.
Sources: Expert list
Additional findings_Paediatric v0.163 HGF Lilian Downie reviewed gene: HGF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal recessive non syndromic deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.163 HARS2 Lilian Downie reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome, autosomal recessive sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.163 GRHL2 Lilian Downie reviewed gene: GRHL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal dominant hearing loss, MIM# 608641; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.163 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Additional findings_Paediatric v0.163 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.163 ALG9 Zornitza Stark Phenotypes for gene: ALG9 were changed from Congenital disorder of glycosylation, type Il to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210
Additional findings_Paediatric v0.162 ALG9 Zornitza Stark Publications for gene: ALG9 were set to
Additional findings_Paediatric v0.161 ALG9 Zornitza Stark Classified gene: ALG9 as Green List (high evidence)
Additional findings_Paediatric v0.161 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.160 ALG9 Zornitza Stark reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.160 GATA3 Zornitza Stark Marked gene: GATA3 as ready
Additional findings_Paediatric v0.160 GATA3 Zornitza Stark Gene: gata3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.160 GATA3 Zornitza Stark Classified gene: GATA3 as Green List (high evidence)
Additional findings_Paediatric v0.160 GATA3 Zornitza Stark Gene: gata3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.159 FOXI1 Zornitza Stark Marked gene: FOXI1 as ready
Additional findings_Paediatric v0.159 FOXI1 Zornitza Stark Gene: foxi1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.159 FOXI1 Zornitza Stark Classified gene: FOXI1 as Green List (high evidence)
Additional findings_Paediatric v0.159 FOXI1 Zornitza Stark Gene: foxi1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.158 EPS8L2 Zornitza Stark Marked gene: EPS8L2 as ready
Additional findings_Paediatric v0.158 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.158 EPS8L2 Zornitza Stark Classified gene: EPS8L2 as Green List (high evidence)
Additional findings_Paediatric v0.158 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.157 EPS8 Zornitza Stark Marked gene: EPS8 as ready
Additional findings_Paediatric v0.157 EPS8 Zornitza Stark Gene: eps8 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.157 EPS8 Zornitza Stark Classified gene: EPS8 as Green List (high evidence)
Additional findings_Paediatric v0.157 EPS8 Zornitza Stark Gene: eps8 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.156 EDNRB Zornitza Stark Marked gene: EDNRB as ready
Additional findings_Paediatric v0.156 EDNRB Zornitza Stark Gene: ednrb has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.156 EDNRB Zornitza Stark Phenotypes for gene: EDNRB were changed from Hirschsprung disease; Waardenburg syndrome to Waardenburg syndrome, type 4A, MIM# 277580
Additional findings_Paediatric v0.155 EDNRB Zornitza Stark Mode of inheritance for gene: EDNRB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.154 EDNRB Zornitza Stark Classified gene: EDNRB as Green List (high evidence)
Additional findings_Paediatric v0.154 EDNRB Zornitza Stark Gene: ednrb has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.153 COL9A2 Zornitza Stark Marked gene: COL9A2 as ready
Additional findings_Paediatric v0.153 COL9A2 Zornitza Stark Gene: col9a2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.153 COL9A2 Zornitza Stark Phenotypes for gene: COL9A2 were changed from Stickler syndrome to Stickler syndrome, type V, MIM# 614284
Additional findings_Paediatric v0.152 COL9A2 Zornitza Stark Classified gene: COL9A2 as Green List (high evidence)
Additional findings_Paediatric v0.152 COL9A2 Zornitza Stark Gene: col9a2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.151 COL9A1 Zornitza Stark Marked gene: COL9A1 as ready
Additional findings_Paediatric v0.151 COL9A1 Zornitza Stark Gene: col9a1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.151 COL9A1 Zornitza Stark Phenotypes for gene: COL9A1 were changed from Stickler syndrome to Stickler syndrome, type IV, MIM#614134
Additional findings_Paediatric v0.150 COL9A1 Zornitza Stark Classified gene: COL9A1 as Green List (high evidence)
Additional findings_Paediatric v0.150 COL9A1 Zornitza Stark Gene: col9a1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.149 EDN3 Zornitza Stark Marked gene: EDN3 as ready
Additional findings_Paediatric v0.149 EDN3 Zornitza Stark Gene: edn3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.149 EDN3 Zornitza Stark Phenotypes for gene: EDN3 were changed from Hirschsprung disease; Waardenburg syndrome to Waardenburg syndrome
Additional findings_Paediatric v0.148 EDN3 Zornitza Stark Mode of inheritance for gene: EDN3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.147 EDN3 Zornitza Stark Classified gene: EDN3 as Green List (high evidence)
Additional findings_Paediatric v0.147 EDN3 Zornitza Stark Gene: edn3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.146 DIAPH1 Zornitza Stark Marked gene: DIAPH1 as ready
Additional findings_Paediatric v0.146 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.146 DIAPH1 Zornitza Stark Phenotypes for gene: DIAPH1 were changed from Hearing loss to Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900
Additional findings_Paediatric v0.145 DIAPH1 Zornitza Stark Classified gene: DIAPH1 as Green List (high evidence)
Additional findings_Paediatric v0.145 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.144 CCDC50 Zornitza Stark Marked gene: CCDC50 as ready
Additional findings_Paediatric v0.144 CCDC50 Zornitza Stark Gene: ccdc50 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.144 CCDC50 Zornitza Stark Phenotypes for gene: CCDC50 were changed from Hearing loss to childhood onset deafness, progressive
Additional findings_Paediatric v0.143 CCDC50 Zornitza Stark Mode of inheritance for gene: CCDC50 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.142 CCDC50 Zornitza Stark Classified gene: CCDC50 as Green List (high evidence)
Additional findings_Paediatric v0.142 CCDC50 Zornitza Stark Gene: ccdc50 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.141 DMXL2 Zornitza Stark Marked gene: DMXL2 as ready
Additional findings_Paediatric v0.141 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.141 DMXL2 Zornitza Stark Classified gene: DMXL2 as Green List (high evidence)
Additional findings_Paediatric v0.141 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.140 GATA3 Lilian Downie gene: GATA3 was added
gene: GATA3 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
Review for gene: GATA3 was set to GREEN
Added comment: Sources: Expert list
Additional findings_Paediatric v0.140 FOXI1 Lilian Downie gene: FOXI1 was added
gene: FOXI1 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: FOXI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXI1 were set to sensorineural deafness and distal renal tubular acidosis
Review for gene: FOXI1 was set to GREEN
Added comment: Sources: Expert list
Additional findings_Paediatric v0.140 EPS8L2 Lilian Downie gene: EPS8L2 was added
gene: EPS8L2 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPS8L2 were set to Deafness, MIM#617637
Review for gene: EPS8L2 was set to GREEN
Added comment: Sources: Expert list
Additional findings_Paediatric v0.140 EPS8 Lilian Downie gene: EPS8 was added
gene: EPS8 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: EPS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPS8 were set to deafness MIM#600205
Review for gene: EPS8 was set to GREEN
Added comment: Sources: Expert list
Additional findings_Paediatric v0.140 EDNRB Lilian Downie reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4A, MIM# 277580; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.140 COL9A2 Lilian Downie reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type V, MIM# 614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.140 COL9A1 Lilian Downie reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type IV, MIM#614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.140 EDN3 Lilian Downie reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.140 DIAPH1 Lilian Downie reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.140 CCDC50 Lilian Downie reviewed gene: CCDC50: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: childhood onset deafness, progressive; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.140 DMXL2 Lilian Downie gene: DMXL2 was added
gene: DMXL2 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DMXL2 were set to Developmental and epileptic encephalopathy 81, MIM#618663
Review for gene: DMXL2 was set to GREEN
Added comment: EE and deafness
Sources: Expert list
Additional findings_Paediatric v0.140 COL9A3 Zornitza Stark Marked gene: COL9A3 as ready
Additional findings_Paediatric v0.140 COL9A3 Zornitza Stark Gene: col9a3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.140 COL9A3 Zornitza Stark Classified gene: COL9A3 as Green List (high evidence)
Additional findings_Paediatric v0.140 COL9A3 Zornitza Stark Gene: col9a3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.139 CEP78 Zornitza Stark Marked gene: CEP78 as ready
Additional findings_Paediatric v0.139 CEP78 Zornitza Stark Gene: cep78 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.139 CEP78 Zornitza Stark Classified gene: CEP78 as Green List (high evidence)
Additional findings_Paediatric v0.139 CEP78 Zornitza Stark Gene: cep78 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.138 CDC14A Zornitza Stark Marked gene: CDC14A as ready
Additional findings_Paediatric v0.138 CDC14A Zornitza Stark Gene: cdc14a has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.138 CDC14A Zornitza Stark Classified gene: CDC14A as Green List (high evidence)
Additional findings_Paediatric v0.138 CDC14A Zornitza Stark Gene: cdc14a has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.137 CABP2 Zornitza Stark Marked gene: CABP2 as ready
Additional findings_Paediatric v0.137 CABP2 Zornitza Stark Gene: cabp2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.137 CABP2 Zornitza Stark Classified gene: CABP2 as Green List (high evidence)
Additional findings_Paediatric v0.137 CABP2 Zornitza Stark Gene: cabp2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.136 ATP2B2 Zornitza Stark Marked gene: ATP2B2 as ready
Additional findings_Paediatric v0.136 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.136 ATP2B2 Zornitza Stark Classified gene: ATP2B2 as Green List (high evidence)
Additional findings_Paediatric v0.136 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.135 ADGRV1 Zornitza Stark Marked gene: ADGRV1 as ready
Additional findings_Paediatric v0.135 ADGRV1 Zornitza Stark Gene: adgrv1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.135 ADGRV1 Zornitza Stark Classified gene: ADGRV1 as Green List (high evidence)
Additional findings_Paediatric v0.135 ADGRV1 Zornitza Stark Gene: adgrv1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.134 COL9A3 Lilian Downie gene: COL9A3 was added
gene: COL9A3 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: COL9A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL9A3 were set to Stickler syndrome
Review for gene: COL9A3 was set to GREEN
Added comment: Sources: Expert list
Additional findings_Paediatric v0.134 CEP78 Lilian Downie gene: CEP78 was added
gene: CEP78 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss
Review for gene: CEP78 was set to GREEN
Added comment: Sources: Expert list
Additional findings_Paediatric v0.134 CDC14A Lilian Downie gene: CDC14A was added
gene: CDC14A was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: CDC14A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDC14A were set to Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653
Review for gene: CDC14A was set to GREEN
Added comment: Sources: Expert list
Additional findings_Paediatric v0.134 CABP2 Lilian Downie gene: CABP2 was added
gene: CABP2 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: CABP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CABP2 were set to Deafness, autosomal recessive 93, MIM# 614899
Additional findings_Paediatric v0.134 ATP2B2 Lilian Downie gene: ATP2B2 was added
gene: ATP2B2 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP2B2 were set to Deafness, childhood onset
Review for gene: ATP2B2 was set to GREEN
Added comment: Sources: Expert list
Additional findings_Paediatric v0.134 ADGRV1 Lilian Downie gene: ADGRV1 was added
gene: ADGRV1 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C
Added comment: Added from deafness gene list
Sources: Expert list
Additional findings_Paediatric v0.134 STAC3 Zornitza Stark Marked gene: STAC3 as ready
Additional findings_Paediatric v0.134 STAC3 Zornitza Stark Gene: stac3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.134 STAC3 Zornitza Stark Phenotypes for gene: STAC3 were changed from Myopathy, Native American to Myopathy, congenital, Baily-Bloch, MIM# 255995
Additional findings_Paediatric v0.133 STAC3 Zornitza Stark Publications for gene: STAC3 were set to
Additional findings_Paediatric v0.132 STAC3 Zornitza Stark Classified gene: STAC3 as Green List (high evidence)
Additional findings_Paediatric v0.132 STAC3 Zornitza Stark Gene: stac3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.131 STAC3 Zornitza Stark reviewed gene: STAC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23736855, 28411587, 28777491, 30168660; Phenotypes: Myopathy, congenital, Baily-Bloch, MIM# 255995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.131 SPEG Zornitza Stark Marked gene: SPEG as ready
Additional findings_Paediatric v0.131 SPEG Zornitza Stark Gene: speg has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.131 SPEG Zornitza Stark Phenotypes for gene: SPEG were changed from Centronuclear myopathy with dilated cardiomyopathy to Centronuclear myopathy 5, MIM# 615959
Additional findings_Paediatric v0.130 SPEG Zornitza Stark Publications for gene: SPEG were set to
Additional findings_Paediatric v0.129 SPEG Zornitza Stark Classified gene: SPEG as Green List (high evidence)
Additional findings_Paediatric v0.129 SPEG Zornitza Stark Gene: speg has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.128 SPEG Zornitza Stark reviewed gene: SPEG: Rating: GREEN; Mode of pathogenicity: None; Publications: 25087613, 31625632, 30412272, 30157964, 29614691, 29474540, 28624463, 26578207, 25087613; Phenotypes: Centronuclear myopathy 5, MIM# 615959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.127 Zornitza Stark Panel name changed from Additional findings Paediatric to Additional findings_Paediatric
Additional findings_Paediatric v0.125 Zornitza Stark Panel name changed from Newborn Screening_BabySeq to Additional findings Paediatric
Panel types changed to Australian Genomics
Additional findings_Paediatric v0.124 AR Kristin Rigbye reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Androgen insensitivity (MIM#300068), XLR; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Additional findings_Paediatric v0.124 AR Kristin Rigbye Deleted their review
Additional findings_Paediatric v0.124 AR Kristin Rigbye reviewed gene: AR: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Androgen insensitivity (MIM#300068), XLR; Mode of inheritance: None
Additional findings_Paediatric v0.124 HSD3B2 Zornitza Stark Marked gene: HSD3B2 as ready
Additional findings_Paediatric v0.124 HSD3B2 Zornitza Stark Gene: hsd3b2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.124 HSD3B2 Zornitza Stark Classified gene: HSD3B2 as Green List (high evidence)
Additional findings_Paediatric v0.124 HSD3B2 Zornitza Stark Gene: hsd3b2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.123 IL7R Zornitza Stark Marked gene: IL7R as ready
Additional findings_Paediatric v0.123 IL7R Zornitza Stark Gene: il7r has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.123 IL7R Zornitza Stark Classified gene: IL7R as Green List (high evidence)
Additional findings_Paediatric v0.123 IL7R Zornitza Stark Gene: il7r has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.122 HNF4A Zornitza Stark Marked gene: HNF4A as ready
Additional findings_Paediatric v0.122 HNF4A Zornitza Stark Gene: hnf4a has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.122 HNF4A Zornitza Stark Classified gene: HNF4A as Green List (high evidence)
Additional findings_Paediatric v0.122 HNF4A Zornitza Stark Gene: hnf4a has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.121 GABRG2 Zornitza Stark Marked gene: GABRG2 as ready
Additional findings_Paediatric v0.121 GABRG2 Zornitza Stark Added comment: Comment when marking as ready: Molecular diagnosis even in the milder phenotypes has the potential to reduce the need for investigations.
Additional findings_Paediatric v0.121 GABRG2 Zornitza Stark Gene: gabrg2 has been classified as Amber List (Moderate Evidence).
Additional findings_Paediatric v0.121 GABRG2 Zornitza Stark Phenotypes for gene: GABRG2 were changed from vEpilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681; Epileptic encephalopathy, early infantile, 74 MIM# 618396; Febrile seizures, familial, 8 MIM# 607681 to Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681; Epileptic encephalopathy, early infantile, 74 MIM# 618396; Febrile seizures, familial, 8 MIM# 607681
Additional findings_Paediatric v0.120 GABRG2 Zornitza Stark Phenotypes for gene: GABRG2 were changed from Epilepsy, childhood absence with febrile seizure to vEpilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681; Epileptic encephalopathy, early infantile, 74 MIM# 618396; Febrile seizures, familial, 8 MIM# 607681
Additional findings_Paediatric v0.119 GABRG2 Zornitza Stark Publications for gene: GABRG2 were set to
Additional findings_Paediatric v0.118 GABRG2 Zornitza Stark Classified gene: GABRG2 as Amber List (moderate evidence)
Additional findings_Paediatric v0.118 GABRG2 Zornitza Stark Gene: gabrg2 has been classified as Amber List (Moderate Evidence).
Additional findings_Paediatric v0.117 FH Zornitza Stark Marked gene: FH as ready
Additional findings_Paediatric v0.117 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.117 FH Zornitza Stark Phenotypes for gene: FH were changed from Leiomyomatosis and renal cell cancer; Fumarase deficiency to Fumurase deficiency MIM# 606812
Additional findings_Paediatric v0.116 FH Zornitza Stark Mode of inheritance for gene: FH was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.115 FH Zornitza Stark Classified gene: FH as Green List (high evidence)
Additional findings_Paediatric v0.115 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.114 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Additional findings_Paediatric v0.114 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.114 FGFR3 Zornitza Stark Classified gene: FGFR3 as Green List (high evidence)
Additional findings_Paediatric v0.114 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.113 FBP1 Zornitza Stark Marked gene: FBP1 as ready
Additional findings_Paediatric v0.113 FBP1 Zornitza Stark Gene: fbp1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.113 FBP1 Zornitza Stark Classified gene: FBP1 as Green List (high evidence)
Additional findings_Paediatric v0.113 FBP1 Zornitza Stark Gene: fbp1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.112 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Additional findings_Paediatric v0.112 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.112 FBN1 Zornitza Stark Classified gene: FBN1 as Green List (high evidence)
Additional findings_Paediatric v0.112 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.111 F7 Zornitza Stark Marked gene: F7 as ready
Additional findings_Paediatric v0.111 F7 Zornitza Stark Gene: f7 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.111 F7 Zornitza Stark Classified gene: F7 as Green List (high evidence)
Additional findings_Paediatric v0.111 F7 Zornitza Stark Gene: f7 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.110 F5 Zornitza Stark Marked gene: F5 as ready
Additional findings_Paediatric v0.110 F5 Zornitza Stark Gene: f5 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.110 F5 Zornitza Stark Phenotypes for gene: F5 were changed from Risk for deep vein thrombosis to Factor V deficiency MIM# 227400; Thrombophilia due to activated protein C resistance MIM# 188055
Additional findings_Paediatric v0.109 F5 Zornitza Stark Mode of inheritance for gene: F5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.108 F5 Zornitza Stark Classified gene: F5 as Green List (high evidence)
Additional findings_Paediatric v0.108 F5 Zornitza Stark Gene: f5 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.107 F13B Zornitza Stark Marked gene: F13B as ready
Additional findings_Paediatric v0.107 F13B Zornitza Stark Gene: f13b has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.107 F13B Zornitza Stark Classified gene: F13B as Red List (low evidence)
Additional findings_Paediatric v0.107 F13B Zornitza Stark Gene: f13b has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.106 F13B Lilian Downie changed review comment from: Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit. Not reviewed by Babyseq, included in NC NEXUS with the indication for 'intracranial bleeding' but I can't find evidence of childhood onset intracranial bleeding in literature.
Sources: Expert list; to: Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit. Not reviewed by Babyseq, included in NC NEXUS with the indication for 'intracranial bleeding' but I can't find evidence of childhood onset intracranial bleeding in literature, only a milder bleeding phenotype post surgery in heterozygotes? Insufficient evidence for inclusion?
Sources: Expert list
Additional findings_Paediatric v0.106 F13B Lilian Downie gene: F13B was added
gene: F13B was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: F13B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: F13B were set to PMID: 31013569
Phenotypes for gene: F13B were set to Factor XIIIB deficiency MIM# 613235
Review for gene: F13B was set to RED
Added comment: Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit. Not reviewed by Babyseq, included in NC NEXUS with the indication for 'intracranial bleeding' but I can't find evidence of childhood onset intracranial bleeding in literature.
Sources: Expert list
Additional findings_Paediatric v0.106 F5 Lilian Downie reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27351627; Phenotypes: Factor V deficiency MIM# 227400, Thrombophilia due to activated protein C resistance MIM# 188055; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.106 F7 Lilian Downie gene: F7 was added
gene: F7 was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F7 were set to Factor VII deficiency MIM# 227500
Review for gene: F7 was set to GREEN
Added comment: Factor VII deficiency is an autosomal recessive bleeding disorder showing variable severity. Not reviewed by Babyseq, included in NC NEXUS list. Bleeding treatable with factor replacement.
Sources: Expert list
Additional findings_Paediatric v0.106 FBN1 Lilian Downie reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: multiple; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.106 FBP1 Lilian Downie gene: FBP1 was added
gene: FBP1 was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBP1 were set to Fructose-1,6-bisphosphatase deficiency MIM# 229700
Review for gene: FBP1 was set to GREEN
Added comment: Fructose-1,6-bisphosphatase deficiency is an autosomal recessive disorder characterized by impaired gluconeogenesis. Patients present with hypoglycemia and metabolic acidosis on fasting and may have episodes of hyperventilation, apnea, hypoglycemia, and ketosis. Although the disorder may be lethal in the newborn period, proper treatment yields an excellent prognosis. No reviewed by Babyseq, included in NC NEXUS.
Sources: Expert list
Additional findings_Paediatric v0.106 FGFR3 Lilian Downie reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.106 FH Lilian Downie reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fumurase deficiency MIM# 606812, Leiomyomatosis and renal cell cancer MIM# 150800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.106 GABRG2 Lilian Downie reviewed gene: GABRG2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 27864268; Phenotypes: Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681, Epileptic encephalopathy, early infantile, 74 MIM# 618396, Febrile seizures, familial, 8 MIM# 607681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.106 HADH Zornitza Stark Marked gene: HADH as ready
Additional findings_Paediatric v0.106 HADH Zornitza Stark Gene: hadh has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.106 HADH Zornitza Stark Phenotypes for gene: HADH were changed from 3-hydroxyacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia, familial, 4 to Hyperinsulinemic hypoglycemia, familial, 4
Additional findings_Paediatric v0.105 HADH Zornitza Stark Classified gene: HADH as Green List (high evidence)
Additional findings_Paediatric v0.105 HADH Zornitza Stark Gene: hadh has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.104 GIF Zornitza Stark Marked gene: GIF as ready
Additional findings_Paediatric v0.104 GIF Zornitza Stark Gene: gif has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.104 GIF Zornitza Stark Classified gene: GIF as Green List (high evidence)
Additional findings_Paediatric v0.104 GIF Zornitza Stark Gene: gif has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.103 GIF Zornitza Stark reviewed gene: GIF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Additional findings_Paediatric v0.103 GGCX Zornitza Stark Marked gene: GGCX as ready
Additional findings_Paediatric v0.103 GGCX Zornitza Stark Gene: ggcx has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.103 GGCX Zornitza Stark Classified gene: GGCX as Green List (high evidence)
Additional findings_Paediatric v0.103 GGCX Zornitza Stark Gene: ggcx has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.102 GATA2 Zornitza Stark Marked gene: GATA2 as ready
Additional findings_Paediatric v0.102 GATA2 Zornitza Stark Gene: gata2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.102 GATA2 Zornitza Stark Classified gene: GATA2 as Green List (high evidence)
Additional findings_Paediatric v0.102 GATA2 Zornitza Stark Gene: gata2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.101 GATA2 Zornitza Stark reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 21 MIM# 614172, Emberger syndrome MIM# 614038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.101 GATA2 Lilian Downie gene: GATA2 was added
gene: GATA2 was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA2 were set to PMID: 25397911, 30047422
Phenotypes for gene: GATA2 were set to Immunodeficiency 21 MIM# 614172; Emberger syndrome MIM# 614038
Review for gene: GATA2 was set to AMBER
Added comment: Gene not curated by Babyseq, included in NC NEXUS. This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anemia. Bone marrow transplantation is the only cure. Allelic disease with phenotypic overalp lymphoedema with SNHL (Emberger syndrome). Onset of immunodeficiency may not be until later childhood early adulthood.
Sources: Expert list
Additional findings_Paediatric v0.101 GGCX Lilian Downie gene: GGCX was added
gene: GGCX was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GGCX were set to Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450
Review for gene: GGCX was set to GREEN
Added comment: Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Can cause fatal haemmorhage in the first few weeks of life. Non reviewed by Babyseq, included in NC NEXUS list.
Sources: Expert list
Additional findings_Paediatric v0.101 GIF Lilian Downie gene: GIF was added
gene: GIF was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GIF were set to Intrinsic factor deficiency # 261000
Added comment: Congenital pernicious anemia (PA), or intrinsic factor deficiency, is a rare disorder characterized by the lack of gastric intrinsic factor in the presence of normal acid secretion and mucosal cytology and the absence of GIF antibodies that are found in the acquired form of pernicious anemia. Childhood onset disease treatable with B12 injections. Not reviewed by Babyseq, on NC NEXUS list.
Sources: Expert list
Additional findings_Paediatric v0.101 HADH Lilian Downie reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinemic hypoglycemia, familial, 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.101 HNF4A Lilian Downie reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoglycaemia, hyperinsulinaemic; Mode of inheritance: None
Additional findings_Paediatric v0.101 HSD3B2 Lilian Downie gene: HSD3B2 was added
gene: HSD3B2 was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM# 201810
Review for gene: HSD3B2 was set to GREEN
Added comment: Classic 3-beta-hydroxysteroid dehydrogenase deficiency is an autosomal recessive form of CAH characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads, resulting in decreased excretion of cortisol and aldosterone and of progesterone, androgens, and estrogens by these tissues. Affected newborns exhibit signs and symptoms of glucocorticoid and mineralocorticoid deficiencies, which may be fatal if not diagnosed and treated early, especially in the severe salt-wasting form. Moreover, male newborns exhibit pseudohermaphroditism with incomplete masculinization of the external genitalia due to an impairment of androgen biosynthesis in the testis. In contrast, affected females exhibit normal sexual differentiation or partial virilization.

Severe treatable neonatal onset disease. No reviwed by babyseq, included in NC NEXUS.
Sources: Expert list
Additional findings_Paediatric v0.101 IL7R Lilian Downie gene: IL7R was added
gene: IL7R was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971
Review for gene: IL7R was set to GREEN
Added comment: SCID - severe neonatal presentation, treatment with BMT. Not reviewed by babyseq, included in NC NEXUS.
Sources: Expert list
Additional findings_Paediatric v0.101 WHRN Zornitza Stark Marked gene: WHRN as ready
Additional findings_Paediatric v0.101 WHRN Zornitza Stark Gene: whrn has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.101 WHRN Zornitza Stark Phenotypes for gene: WHRN were changed from Hearing loss to Usher syndrome, type 2D, MIM# 611383; Deafness, autosomal recessive 31, MIM# 607084
Additional findings_Paediatric v0.100 WHRN Zornitza Stark Publications for gene: WHRN were set to
Additional findings_Paediatric v0.99 WHRN Zornitza Stark Classified gene: WHRN as Green List (high evidence)
Additional findings_Paediatric v0.99 WHRN Zornitza Stark Gene: whrn has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.98 WHRN Zornitza Stark reviewed gene: WHRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 17171570, 21738389, 22147658, 26338283, 12833159, 20502675, 28254438, 27117407, 12833159, 29270100, 15841483; Phenotypes: Usher syndrome, type 2D, MIM# 611383, Deafness, autosomal recessive 31, MIM# 607084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.98 RDX Zornitza Stark Marked gene: RDX as ready
Additional findings_Paediatric v0.98 RDX Zornitza Stark Gene: rdx has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.98 RDX Zornitza Stark Phenotypes for gene: RDX were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 24, MIM# 611022
Additional findings_Paediatric v0.97 RDX Zornitza Stark Publications for gene: RDX were set to
Additional findings_Paediatric v0.96 RDX Zornitza Stark Classified gene: RDX as Green List (high evidence)
Additional findings_Paediatric v0.96 RDX Zornitza Stark Gene: rdx has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.95 RDX Zornitza Stark reviewed gene: RDX: Rating: GREEN; Mode of pathogenicity: None; Publications: 17226784, 19215054, 22567349, 26226137, 15314067; Phenotypes: Deafness, autosomal recessive 24, MIM# 611022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.95 GRXCR1 Zornitza Stark Marked gene: GRXCR1 as ready
Additional findings_Paediatric v0.95 GRXCR1 Zornitza Stark Gene: grxcr1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.95 GRXCR1 Zornitza Stark Phenotypes for gene: GRXCR1 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 25, MIM# 613285
Additional findings_Paediatric v0.94 GRXCR1 Zornitza Stark Publications for gene: GRXCR1 were set to
Additional findings_Paediatric v0.93 GRXCR1 Zornitza Stark Classified gene: GRXCR1 as Green List (high evidence)
Additional findings_Paediatric v0.93 GRXCR1 Zornitza Stark Gene: grxcr1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.92 GRXCR1 Zornitza Stark reviewed gene: GRXCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137778, 25802247, 26226137, 26445815, 26969326, 20137774; Phenotypes: Deafness, autosomal recessive 25, MIM# 613285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.92 COCH Zornitza Stark Marked gene: COCH as ready
Additional findings_Paediatric v0.92 COCH Zornitza Stark Gene: coch has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.92 COCH Zornitza Stark Phenotypes for gene: COCH were changed from Deafness, non-syndromic, autosomal dominant to Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094
Additional findings_Paediatric v0.91 COCH Zornitza Stark Publications for gene: COCH were set to
Additional findings_Paediatric v0.90 COCH Zornitza Stark Mode of inheritance for gene: COCH was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.89 COCH Zornitza Stark reviewed gene: COCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 16151338, 28116169, 28099493, 9806553, 17561763, 21046548, 26256111, 22931125, 22610276, 18312449, 28733840, 18697796, 29449721, 32939038, 32562050; Phenotypes: Deafness, autosomal dominant 9, MIM# 601369, Deafness, autosomal recessive 110, MIM# 618094; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.89 ESPN Zornitza Stark Marked gene: ESPN as ready
Additional findings_Paediatric v0.89 ESPN Zornitza Stark Gene: espn has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.89 ESPN Zornitza Stark Phenotypes for gene: ESPN were changed from Hearing loss to Deafness, autosomal recessive 36, MIM# 609006
Additional findings_Paediatric v0.88 ESPN Zornitza Stark Publications for gene: ESPN were set to
Additional findings_Paediatric v0.87 ESPN Zornitza Stark Classified gene: ESPN as Green List (high evidence)
Additional findings_Paediatric v0.87 ESPN Zornitza Stark Gene: espn has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.86 ESPN Zornitza Stark reviewed gene: ESPN: Rating: GREEN; Mode of pathogenicity: None; Publications: 15286153, 18973245, 26445815, 28281779, 10975527, 15930085; Phenotypes: Deafness, autosomal recessive 36, MIM# 609006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.86 CLPP Zornitza Stark Marked gene: CLPP as ready
Additional findings_Paediatric v0.86 CLPP Zornitza Stark Gene: clpp has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.86 CLPP Zornitza Stark Phenotypes for gene: CLPP were changed from Perrault syndrome to Perrault syndrome 3, MIM# 614129
Additional findings_Paediatric v0.85 CLPP Zornitza Stark Publications for gene: CLPP were set to
Additional findings_Paediatric v0.84 CLPP Zornitza Stark Classified gene: CLPP as Green List (high evidence)
Additional findings_Paediatric v0.84 CLPP Zornitza Stark Gene: clpp has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.83 CLPP Zornitza Stark reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23541340, 27087618, 27899912, 25254289; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.83 CIB2 Zornitza Stark Marked gene: CIB2 as ready
Additional findings_Paediatric v0.83 CIB2 Zornitza Stark Gene: cib2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.83 CIB2 Zornitza Stark Classified gene: CIB2 as Green List (high evidence)
Additional findings_Paediatric v0.83 CIB2 Zornitza Stark Gene: cib2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.82 CIB2 Zornitza Stark gene: CIB2 was added
gene: CIB2 was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIB2 were set to 23023331; 23023331; 26173970; 26473954; 27344577; 26226137; 26445815
Phenotypes for gene: CIB2 were set to Deafness, autosomal recessive 48, MIM# 609439
Review for gene: CIB2 was set to GREEN
Added comment: DEFINITIVE association with isolated deafness, REFUTED association with Usher syndrome by ClinGen. Multiple families, mouse and zebrafish animal models, all families but one with isolated deafness.
Sources: Expert list
Additional findings_Paediatric v0.81 F13A1 Zornitza Stark Marked gene: F13A1 as ready
Additional findings_Paediatric v0.81 F13A1 Zornitza Stark Gene: f13a1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.81 F13A1 Zornitza Stark Classified gene: F13A1 as Green List (high evidence)
Additional findings_Paediatric v0.81 F13A1 Zornitza Stark Gene: f13a1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.80 F13A1 Zornitza Stark gene: F13A1 was added
gene: F13A1 was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: F13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F13A1 were set to Factor XIIIA deficiency, MIM# 613225
Review for gene: F13A1 was set to GREEN
Added comment: Congenital disorder, treatable.
Sources: Expert list
Additional findings_Paediatric v0.79 F10 Zornitza Stark Marked gene: F10 as ready
Additional findings_Paediatric v0.79 F10 Zornitza Stark Gene: f10 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.79 F10 Zornitza Stark Classified gene: F10 as Green List (high evidence)
Additional findings_Paediatric v0.79 F10 Zornitza Stark Gene: f10 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.78 F10 Zornitza Stark gene: F10 was added
gene: F10 was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: F10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F10 were set to Factor X deficiency, MIM# 227600
Review for gene: F10 was set to GREEN
Added comment: Established gene-disease association, congenital disorder which is treatable.
Sources: Expert list
Additional findings_Paediatric v0.77 DUOXA2 Zornitza Stark Marked gene: DUOXA2 as ready
Additional findings_Paediatric v0.77 DUOXA2 Zornitza Stark Gene: duoxa2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.77 DUOXA2 Zornitza Stark Phenotypes for gene: DUOXA2 were changed from Thyroid dyshormonogenesis to Thyroid dyshormonogenesis 5, MIM# 274900
Additional findings_Paediatric v0.76 DUOXA2 Zornitza Stark Classified gene: DUOXA2 as Green List (high evidence)
Additional findings_Paediatric v0.76 DUOXA2 Zornitza Stark Gene: duoxa2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.75 DUOXA2 Zornitza Stark changed review comment from: Evidence for gene-disease association assessed as moderate.; to: Evidence for gene-disease association assessed as moderate. However, treatment available.
Additional findings_Paediatric v0.75 DUOXA2 Zornitza Stark edited their review of gene: DUOXA2: Changed rating: GREEN
Additional findings_Paediatric v0.75 IYD Zornitza Stark Marked gene: IYD as ready
Additional findings_Paediatric v0.75 IYD Zornitza Stark Added comment: Comment when marking as ready: More than 4 families reported, treatable disorder.
Additional findings_Paediatric v0.75 IYD Zornitza Stark Gene: iyd has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.75 IYD Zornitza Stark Phenotypes for gene: IYD were changed from Thyroid dyshormonogenesis to Thyroid dyshormonogenesis 4, MIM# 274800
Additional findings_Paediatric v0.74 IYD Zornitza Stark Publications for gene: IYD were set to
Additional findings_Paediatric v0.73 IYD Zornitza Stark Classified gene: IYD as Green List (high evidence)
Additional findings_Paediatric v0.73 IYD Zornitza Stark Gene: iyd has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.72 IRF6 Zornitza Stark Marked gene: IRF6 as ready
Additional findings_Paediatric v0.72 IRF6 Zornitza Stark Gene: irf6 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.72 IRF6 Zornitza Stark Phenotypes for gene: IRF6 were changed from van der Woude syndrome; Popliteal pterygium syndrome to van der Woude syndrome MIM# 119300
Additional findings_Paediatric v0.71 IRF6 Zornitza Stark Classified gene: IRF6 as Green List (high evidence)
Additional findings_Paediatric v0.71 IRF6 Zornitza Stark Gene: irf6 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.70 INS Zornitza Stark Marked gene: INS as ready
Additional findings_Paediatric v0.70 INS Zornitza Stark Gene: ins has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.70 INS Zornitza Stark Classified gene: INS as Green List (high evidence)
Additional findings_Paediatric v0.70 INS Zornitza Stark Gene: ins has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.69 INS Lilian Downie gene: INS was added
gene: INS was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: INS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: INS were set to Diabetes mellitus, permanent neonatal MIM# 618858Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life
Review for gene: INS was set to GREEN
Added comment: Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life. Not assessed by Babyseq, included in NC NEXUS list.
Sources: Expert list
Additional findings_Paediatric v0.69 IRF6 Lilian Downie reviewed gene: IRF6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: van der Woude syndrome MIM# 119300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.69 IYD Lilian Downie reviewed gene: IYD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18434651, 18765512, 30240412; Phenotypes: Thyroid dyshormonogenesis 4 MIM# 274800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.69 KRIT1 Zornitza Stark Marked gene: KRIT1 as ready
Additional findings_Paediatric v0.69 KRIT1 Zornitza Stark Added comment: Comment when marking as ready: Agree, potentially actionable in childhood.
Additional findings_Paediatric v0.69 KRIT1 Zornitza Stark Gene: krit1 has been classified as Amber List (Moderate Evidence).
Additional findings_Paediatric v0.69 KRIT1 Zornitza Stark Classified gene: KRIT1 as Amber List (moderate evidence)
Additional findings_Paediatric v0.69 KRIT1 Zornitza Stark Gene: krit1 has been classified as Amber List (Moderate Evidence).
Additional findings_Paediatric v0.68 MYH7 Zornitza Stark Marked gene: MYH7 as ready
Additional findings_Paediatric v0.68 MYH7 Zornitza Stark Gene: myh7 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.68 MYH7 Zornitza Stark Phenotypes for gene: MYH7 were changed from Left ventricular noncompaction; Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated; Congenital fiber type disproportion; Myopathy, myosin storage; Laing distal myopathy; Scapuloperoneal syndrome, myopathic type to Myopathy and cardiomyopathy MIM#160760
Additional findings_Paediatric v0.67 MYH7 Zornitza Stark Classified gene: MYH7 as Green List (high evidence)
Additional findings_Paediatric v0.67 MYH7 Zornitza Stark Gene: myh7 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.66 NTRK1 Zornitza Stark Marked gene: NTRK1 as ready
Additional findings_Paediatric v0.66 NTRK1 Zornitza Stark Gene: ntrk1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.66 NTRK1 Zornitza Stark Phenotypes for gene: NTRK1 were changed from Medullary thyroid carcinoma, familial; Congenital insensitivity to pain with anhidrosis to Congenital insensitivity to pain with anhidrosis MIM#256800
Additional findings_Paediatric v0.65 NTRK1 Zornitza Stark Mode of inheritance for gene: NTRK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.64 NTRK1 Zornitza Stark Classified gene: NTRK1 as Green List (high evidence)
Additional findings_Paediatric v0.64 NTRK1 Zornitza Stark Gene: ntrk1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.63 DUOXA2 Zornitza Stark edited their review of gene: DUOXA2: Changed phenotypes: Thyroid dyshormonogenesis 5, MIM# 274900
Additional findings_Paediatric v0.63 DUOXA2 Zornitza Stark reviewed gene: DUOXA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.63 DCX Zornitza Stark Marked gene: DCX as ready
Additional findings_Paediatric v0.63 DCX Zornitza Stark Gene: dcx has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.63 DCX Zornitza Stark Phenotypes for gene: DCX were changed from Lennox-Gastaut syndrome; Lissencephaly, X-linked to Lissencephaly, X-linked, MIM# 300067
Additional findings_Paediatric v0.62 DCX Zornitza Stark Classified gene: DCX as Green List (high evidence)
Additional findings_Paediatric v0.62 DCX Zornitza Stark Gene: dcx has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.61 DCX Zornitza Stark reviewed gene: DCX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly, X-linked, MIM# 300067; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Additional findings_Paediatric v0.61 COL1A1 Zornitza Stark Marked gene: COL1A1 as ready
Additional findings_Paediatric v0.61 COL1A1 Zornitza Stark Gene: col1a1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.61 COL1A1 Zornitza Stark Phenotypes for gene: COL1A1 were changed from Caffey disease; Osteogenesis imperfecta, type I to Osteogenesis imperfecta, type I
Additional findings_Paediatric v0.60 COL1A1 Zornitza Stark Classified gene: COL1A1 as Green List (high evidence)
Additional findings_Paediatric v0.60 COL1A1 Zornitza Stark Gene: col1a1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.59 COL1A1 Zornitza Stark reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type I; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.59 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Additional findings_Paediatric v0.59 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.59 CLCN7 Zornitza Stark Phenotypes for gene: CLCN7 were changed from Osteopetrosis to Osteopetrosis, autosomal recessive 4, MIM# 611490
Additional findings_Paediatric v0.58 CLCN7 Zornitza Stark Mode of inheritance for gene: CLCN7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.57 CLCN7 Zornitza Stark Classified gene: CLCN7 as Green List (high evidence)
Additional findings_Paediatric v0.57 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.56 CLCN7 Zornitza Stark reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 4, MIM# 611490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.56 CLCN1 Zornitza Stark Marked gene: CLCN1 as ready
Additional findings_Paediatric v0.56 CLCN1 Zornitza Stark Gene: clcn1 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.56 CLCN1 Zornitza Stark Phenotypes for gene: CLCN1 were changed from Myotonia congenita to Myotonia congenita, dominant, MIM# 160800; Myotonia congenita, recessive, MIM# 255700
Additional findings_Paediatric v0.55 CLCN1 Zornitza Stark Mode of inheritance for gene: CLCN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.54 CLCN1 Zornitza Stark reviewed gene: CLCN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonia congenita, dominant, MIM# 160800, Myotonia congenita, recessive, MIM# 255700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.54 CD3D Zornitza Stark Marked gene: CD3D as ready
Additional findings_Paediatric v0.54 CD3D Zornitza Stark Gene: cd3d has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.54 CD3D Zornitza Stark Classified gene: CD3D as Green List (high evidence)
Additional findings_Paediatric v0.54 CD3D Zornitza Stark Gene: cd3d has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.53 CD3D Zornitza Stark gene: CD3D was added
gene: CD3D was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: CD3D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD3D were set to Immunodeficiency 19, MIM# 615617
Review for gene: CD3D was set to GREEN
Added comment: SCID phenotype, treatable by BMT. Included in NC Nexus panel.
Sources: Expert list
Additional findings_Paediatric v0.52 CAV3 Zornitza Stark Marked gene: CAV3 as ready
Additional findings_Paediatric v0.52 CAV3 Zornitza Stark Gene: cav3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.52 CAV3 Zornitza Stark Phenotypes for gene: CAV3 were changed from Cardiomyopathy, familial hypertrophic; Rippling muscle disease; Long QT syndrome-9; Caveolinopathy; Muscular dystrophy, limb-girdle, type IC, to Muscular dystrophy, limb-girdle, type IC; Caveolinopathy
Additional findings_Paediatric v0.51 CAV3 Zornitza Stark Mode of inheritance for gene: CAV3 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.50 CAV3 Zornitza Stark Classified gene: CAV3 as Green List (high evidence)
Additional findings_Paediatric v0.50 CAV3 Zornitza Stark Gene: cav3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.49 CAV3 Zornitza Stark reviewed gene: CAV3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, type IC, Caveolinopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.49 CARD11 Zornitza Stark Marked gene: CARD11 as ready
Additional findings_Paediatric v0.49 CARD11 Zornitza Stark Gene: card11 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.49 CARD11 Zornitza Stark Classified gene: CARD11 as Green List (high evidence)
Additional findings_Paediatric v0.49 CARD11 Zornitza Stark Gene: card11 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.48 CARD11 Zornitza Stark gene: CARD11 was added
gene: CARD11 was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: CARD11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CARD11 were set to 23561803; 12818158; 23374270; 28628108
Phenotypes for gene: CARD11 were set to Immunodeficiency 11A, MIM# 615206
Review for gene: CARD11 was set to GREEN
Added comment: At least two individuals with bi-allelic, and four with mono-allelic variants, animal model. Included in NC NEXUS panel.
Sources: Expert list
Additional findings_Paediatric v0.47 KRIT1 Lilian Downie gene: KRIT1 was added
gene: KRIT1 was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRIT1 were set to PMID: 30061145, 20301470, 27561926
Phenotypes for gene: KRIT1 were set to Cerebral cavernous malformations-1 MIM# 116860
Review for gene: KRIT1 was set to AMBER
Added comment: Not evaluated by Babyseq, included in NC NEXUS list. Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the central nervous system. Complications of rupture/bleeding can cause seizures, stroke, neurological deficits. Screening and management is available. Rare but can be paediatric onset: see PMID's.
Sources: Expert list
Additional findings_Paediatric v0.47 MYH7 Lilian Downie reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy and cardiomyopathy MIM#160760; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.47 NTRK1 Lilian Downie reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Insensitivity to pain, congenital, with anhidrosis MIM#256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.47 BSCL2 Zornitza Stark Marked gene: BSCL2 as ready
Additional findings_Paediatric v0.47 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.47 BSCL2 Zornitza Stark Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome; Berardinelli-Seip lipodystrophy to Berardinelli-Seip lipodystrophy; Lipodystrophy, congenital generalized, type 2, MIM# 269700
Additional findings_Paediatric v0.46 BSCL2 Zornitza Stark Mode of inheritance for gene: BSCL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.45 BSCL2 Zornitza Stark Classified gene: BSCL2 as Green List (high evidence)
Additional findings_Paediatric v0.45 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.44 BSCL2 Zornitza Stark reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipodystrophy, congenital generalized, type 2, MIM# 269700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.44 PALB2 Zornitza Stark Marked gene: PALB2 as ready
Additional findings_Paediatric v0.44 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.44 PALB2 Zornitza Stark Phenotypes for gene: PALB2 were changed from Breast cancer to Fanconi anemia, complementation group N, MIM# 610832
Additional findings_Paediatric v0.43 PALB2 Zornitza Stark Publications for gene: PALB2 were set to
Additional findings_Paediatric v0.42 PALB2 Zornitza Stark Mode of inheritance for gene: PALB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.41 PALB2 Zornitza Stark Classified gene: PALB2 as Green List (high evidence)
Additional findings_Paediatric v0.41 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.40 P2RY12 Zornitza Stark Marked gene: P2RY12 as ready
Additional findings_Paediatric v0.40 P2RY12 Zornitza Stark Gene: p2ry12 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.40 P2RY12 Zornitza Stark Classified gene: P2RY12 as Green List (high evidence)
Additional findings_Paediatric v0.40 P2RY12 Zornitza Stark Gene: p2ry12 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.39 PDX1 Zornitza Stark Marked gene: PDX1 as ready
Additional findings_Paediatric v0.39 PDX1 Zornitza Stark Gene: pdx1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.39 PDX1 Zornitza Stark Classified gene: PDX1 as Green List (high evidence)
Additional findings_Paediatric v0.39 PDX1 Zornitza Stark Gene: pdx1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.38 PIK3CD Zornitza Stark Marked gene: PIK3CD as ready
Additional findings_Paediatric v0.38 PIK3CD Zornitza Stark Gene: pik3cd has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.38 PIK3CD Zornitza Stark Classified gene: PIK3CD as Green List (high evidence)
Additional findings_Paediatric v0.38 PIK3CD Zornitza Stark Gene: pik3cd has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.37 PTPRC Zornitza Stark Marked gene: PTPRC as ready
Additional findings_Paediatric v0.37 PTPRC Zornitza Stark Gene: ptprc has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.37 PTPRC Zornitza Stark Classified gene: PTPRC as Green List (high evidence)
Additional findings_Paediatric v0.37 PTPRC Zornitza Stark Gene: ptprc has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.36 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Additional findings_Paediatric v0.36 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.36 RYR1 Zornitza Stark Phenotypes for gene: RYR1 were changed from Centronuclear myopathy; Congenital fiber type disproportion; Multiminicore disease; Central core disease; Malignant hyperthermia to Malignant hyperthermia, multiminicore disease MIM#180901
Additional findings_Paediatric v0.35 RYR1 Zornitza Stark Mode of inheritance for gene: RYR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.34 RYR1 Zornitza Stark Classified gene: RYR1 as Green List (high evidence)
Additional findings_Paediatric v0.34 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.33 SCNN1B Zornitza Stark Marked gene: SCNN1B as ready
Additional findings_Paediatric v0.33 SCNN1B Zornitza Stark Gene: scnn1b has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.33 SCNN1B Zornitza Stark Phenotypes for gene: SCNN1B were changed from Pseudohypoaldosteronism; Liddle syndrome to Pseudohypoaldosteronism, type I MIM# 264350
Additional findings_Paediatric v0.32 PALB2 Lilian Downie reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17200671; Phenotypes: Fanconi anemia, complementation group N MIM# 610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.32 SCNN1B Zornitza Stark Mode of inheritance for gene: SCNN1B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.31 SCNN1B Zornitza Stark Classified gene: SCNN1B as Green List (high evidence)
Additional findings_Paediatric v0.31 SCNN1B Zornitza Stark Gene: scnn1b has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.30 SERPINA1 Zornitza Stark Marked gene: SERPINA1 as ready
Additional findings_Paediatric v0.30 SERPINA1 Zornitza Stark Gene: serpina1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.30 SERPINA1 Zornitza Stark Phenotypes for gene: SERPINA1 were changed from Antitrypsin alpha 1 deficiency to Antitrypsin alpha 1 deficiency; Emphysema due to AAT deficiency, OMIM #107400
Additional findings_Paediatric v0.29 SERPINA1 Zornitza Stark Classified gene: SERPINA1 as Green List (high evidence)
Additional findings_Paediatric v0.29 SERPINA1 Zornitza Stark Gene: serpina1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.28 SFTPC Zornitza Stark Marked gene: SFTPC as ready
Additional findings_Paediatric v0.28 SFTPC Zornitza Stark Gene: sftpc has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.28 SFTPC Zornitza Stark Phenotypes for gene: SFTPC were changed from Interstitial lung disease to Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620; Interstitial lung disease
Additional findings_Paediatric v0.27 SFTPC Zornitza Stark Classified gene: SFTPC as Green List (high evidence)
Additional findings_Paediatric v0.27 SFTPC Zornitza Stark Gene: sftpc has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.26 SGCD Zornitza Stark Marked gene: SGCD as ready
Additional findings_Paediatric v0.26 SGCD Zornitza Stark Gene: sgcd has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.26 SGCD Zornitza Stark Phenotypes for gene: SGCD were changed from Cardiomyopathy, dilated; Muscular dystrophy, limb-girdle, type 2F to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287
Additional findings_Paediatric v0.25 SGCD Zornitza Stark Classified gene: SGCD as Green List (high evidence)
Additional findings_Paediatric v0.25 SGCD Zornitza Stark Gene: sgcd has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.24 SLC6A19 Zornitza Stark Marked gene: SLC6A19 as ready
Additional findings_Paediatric v0.24 SLC6A19 Zornitza Stark Gene: slc6a19 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.24 SLC6A19 Zornitza Stark Phenotypes for gene: SLC6A19 were changed from Hartnup disorder to Hartnup disorder, MIM # 234500
Additional findings_Paediatric v0.23 SLC6A19 Zornitza Stark Classified gene: SLC6A19 as Green List (high evidence)
Additional findings_Paediatric v0.23 SLC6A19 Zornitza Stark Gene: slc6a19 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.22 PYGM Zornitza Stark Marked gene: PYGM as ready
Additional findings_Paediatric v0.22 PYGM Zornitza Stark Gene: pygm has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.22 PYGM Zornitza Stark Classified gene: PYGM as Green List (high evidence)
Additional findings_Paediatric v0.22 PYGM Zornitza Stark Gene: pygm has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.21 Zornitza Stark removed gene:P2RY1 from the panel
Additional findings_Paediatric v0.20 P2RY12 Lilian Downie gene: P2RY12 was added
gene: P2RY12 was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: P2RY12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: P2RY12 were set to Bleeding disorder, platelet-type, 8 MIM# 609821
Added comment: Characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation. Onset childhood. Treatable with FFP for procedures. Not reviewed by Babyseq, in the NC NEXUS list.
Sources: Expert list
Sources: Expert list
Additional findings_Paediatric v0.20 P2RY1 Lilian Downie gene: P2RY1 was added
gene: P2RY1 was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: P2RY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: P2RY1 were set to Bleeding disorder, platelet-type, 8, MIM# 609821
Review for gene: P2RY1 was set to GREEN
Added comment: Characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation. Onset childhood. Treatable with FFP for procedures. Not reviewed by Babyseq, in the NC NEXUS list.
Sources: Expert list
Additional findings_Paediatric v0.20 PDX1 Lilian Downie gene: PDX1 was added
gene: PDX1 was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDX1 were set to Pancreatic agenesis, MIM# # 260370
Review for gene: PDX1 was set to GREEN
Added comment: Neonatal onset IDDM, treatable. Not evaluated by Babyseq, included in NC NEXUS.
Sources: Expert list
Additional findings_Paediatric v0.20 PIK3CD Lilian Downie gene: PIK3CD was added
gene: PIK3CD was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: PIK3CD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3CD were set to Immunodeficiency 14, MIM # 615513
Review for gene: PIK3CD was set to GREEN
Added comment: Primary immunodeficiency, characterized by onset of recurrent sinopulmonary and other infections in early childhood. Laboratory studies show defects in both B- and T-cell populations, with an inability to control infection with Epstein Barr-virus (EBV) and cytomegalovirus (CMV). Patient CD8+ T cells are skewed toward differentiation and senescence. Many patients develop lymphadenopathy, mucosal lymphoid aggregates, and/or increased serum IgM. There is also an increased susceptibility to B-cell lymphomas .
Not reviewed by Babyseq, included in NCNEXUS list. Treatable
Sources: Expert list
Additional findings_Paediatric v0.20 PTPRC Lilian Downie gene: PTPRC was added
gene: PTPRC was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: PTPRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTPRC were set to Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 151460
Review for gene: PTPRC was set to GREEN
Added comment: Not reviewed by Babyseq, paediatric onset disease that is actionable with BMT (included in NCNEXUS list).
Sources: Expert list
Additional findings_Paediatric v0.20 PYGM Lilian Downie gene: PYGM was added
gene: PYGM was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGM were set to McCardle disease MIM# 608455
Review for gene: PYGM was set to GREEN
Added comment: McCardle disease: glycogen storage disease type V (GSD5), characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence. Transient myoglobinuria may occur after exercise, due to rhabdomyolysis. Severe myoglobinuria may lead to acute renal failure. Patients may report muscle weakness, myalgia, and lack of endurance since childhood or adolescence. Later in adult life, there is persistent and progressive muscle weakness and atrophy with fatty replacement. McArdle disease is a relatively benign disorder, except for possible renal failure as a complication of myoglobinuria
Not reviewed by Babyseq, included in NCNEXUS newborn screening list.
Actionable by controlled physical activity and programmed glucose intake.
Sources: Expert list
Additional findings_Paediatric v0.20 RYR1 Lilian Downie reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: malignant hyperthermia, multiminicore disease MIM#180901; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.20 SCNN1B Lilian Downie reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I MIM# 264350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.20 SERPINA1 Lilian Downie reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema due to AAT deficiency, OMIM #107400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.20 SFTPC Lilian Downie reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.20 SGCD Lilian Downie reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.20 SLC6A19 Lilian Downie reviewed gene: SLC6A19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hartnup disorder MIM # 234500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.20 BRAF Zornitza Stark Marked gene: BRAF as ready
Additional findings_Paediatric v0.20 BRAF Zornitza Stark Gene: braf has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.20 BRAF Zornitza Stark Phenotypes for gene: BRAF were changed from LEOPARD syndrome; Cardiofaciocutaneous syndrome to Noonan syndrome 7, MIM# 613706; Cardiofaciocutaneous syndrome, MIM# 115150
Additional findings_Paediatric v0.19 BRAF Zornitza Stark Classified gene: BRAF as Green List (high evidence)
Additional findings_Paediatric v0.19 BRAF Zornitza Stark Gene: braf has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.18 BRAF Zornitza Stark reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 7, MIM# 613706, Cardiofaciocutaneous syndrome, MIM# 115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.18 BMPR1A Zornitza Stark Marked gene: BMPR1A as ready
Additional findings_Paediatric v0.18 BMPR1A Zornitza Stark Gene: bmpr1a has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.18 BMPR1A Zornitza Stark Phenotypes for gene: BMPR1A were changed from Tetralogy of Fallot; Juvenile polyposis syndrome to Polyposis, juvenile intestinal, MIM# 174900
Additional findings_Paediatric v0.17 BMPR1A Zornitza Stark Classified gene: BMPR1A as Green List (high evidence)
Additional findings_Paediatric v0.17 BMPR1A Zornitza Stark Gene: bmpr1a has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.16 BMPR1A Zornitza Stark reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polyposis, juvenile intestinal, MIM# 174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.16 BCHE Zornitza Stark Marked gene: BCHE as ready
Additional findings_Paediatric v0.16 BCHE Zornitza Stark Gene: bche has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.16 BCHE Zornitza Stark Classified gene: BCHE as Green List (high evidence)
Additional findings_Paediatric v0.16 BCHE Zornitza Stark Gene: bche has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.15 BCHE Zornitza Stark gene: BCHE was added
gene: BCHE was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: BCHE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCHE were set to Butyrylcholinesterase deficiency, MIM# 617936
Review for gene: BCHE was set to GREEN
Added comment: Individuals deficient in butyrylcholinesterase (BCHE) appear asymptomatic, apart from a heightened sensitivity to muscle relaxants such as suxamethonium (succinylcholine) and mivacurium, 2 BCHE carboxylester substrates. In individuals with usual BCHE levels, these drugs are rapidly hydrolyzed in plasma and their duration of action is short (less than 10 minutes). BCHE deficiency results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. Prolonged neuromuscular block occurs with BCHE deficiencies of marked severity (impairment over 70%).
Sources: Expert list
Additional findings_Paediatric v0.14 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Additional findings_Paediatric v0.14 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.14 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from Occipital horn syndrome; Spinal muscular atrophy, distal, X-linked 3; Menkes syndrome to Menkes disease, MIM# 309400
Additional findings_Paediatric v0.13 ATP7A Zornitza Stark Classified gene: ATP7A as Green List (high evidence)
Additional findings_Paediatric v0.13 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.12 ATP7A Zornitza Stark reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Menkes disease, MIM# 309400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Additional findings_Paediatric v0.12 AR Zornitza Stark edited their review of gene: AR: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Additional findings_Paediatric v0.12 AR Zornitza Stark Marked gene: AR as ready
Additional findings_Paediatric v0.12 AR Zornitza Stark Gene: ar has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.12 AR Zornitza Stark Phenotypes for gene: AR were changed from Spinal and bulbar muscular atrophy of Kennedy; Androgen insensitivity to Androgen insensitivity, MIM# 300068
Additional findings_Paediatric v0.11 AR Zornitza Stark Classified gene: AR as Green List (high evidence)
Additional findings_Paediatric v0.11 AR Zornitza Stark Gene: ar has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.10 AR Zornitza Stark reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Androgen insensitivity, MIM# 300068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.10 APRT Zornitza Stark Marked gene: APRT as ready
Additional findings_Paediatric v0.10 APRT Zornitza Stark Gene: aprt has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.10 APRT Zornitza Stark Phenotypes for gene: APRT were changed from Adenine phosphoribosyltransferase deficiency to Adenine phosphoribosyltransferase deficiency, MIM# 614723
Additional findings_Paediatric v0.9 APRT Zornitza Stark Classified gene: APRT as Green List (high evidence)
Additional findings_Paediatric v0.9 APRT Zornitza Stark Gene: aprt has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.8 APRT Zornitza Stark reviewed gene: APRT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenine phosphoribosyltransferase deficiency, MIM# 614723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.8 ALDH7A1 Zornitza Stark Marked gene: ALDH7A1 as ready
Additional findings_Paediatric v0.8 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.8 ALDH7A1 Zornitza Stark Classified gene: ALDH7A1 as Green List (high evidence)
Additional findings_Paediatric v0.8 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.7 ALDH7A1 Zornitza Stark gene: ALDH7A1 was added
gene: ALDH7A1 was added to Newborn Screening_BabySeq. Sources: Expert list
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, MIM# 266100
Review for gene: ALDH7A1 was set to GREEN
Added comment: Highly penetrant childhood-onset disorder, well established gene-disease association. Treatable.
Sources: Expert list
Additional findings_Paediatric v0.6 ACADS Zornitza Stark Marked gene: ACADS as ready
Additional findings_Paediatric v0.6 ACADS Zornitza Stark Gene: acads has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.6 ACADS Zornitza Stark Classified gene: ACADS as Green List (high evidence)
Additional findings_Paediatric v0.6 ACADS Zornitza Stark Gene: acads has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.5 ACADS Zornitza Stark reviewed gene: ACADS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.5 ABCC2 Zornitza Stark Marked gene: ABCC2 as ready
Additional findings_Paediatric v0.5 ABCC2 Zornitza Stark Gene: abcc2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.5 ABCC2 Zornitza Stark Phenotypes for gene: ABCC2 were changed from Dubin-Johnson syndrome to Dubin-Johnson syndrome, MIM# 237500
Additional findings_Paediatric v0.4 ABCC2 Zornitza Stark Publications for gene: ABCC2 were set to
Additional findings_Paediatric v0.3 ABCC2 Zornitza Stark Classified gene: ABCC2 as Green List (high evidence)
Additional findings_Paediatric v0.3 ABCC2 Zornitza Stark Gene: abcc2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.2 ABCC2 Zornitza Stark reviewed gene: ABCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30344695, 11477083; Phenotypes: Dubin-Johnson syndrome, MIM# 237500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.2 ZNF674 Zornitza Stark gene: ZNF674 was added
gene: ZNF674 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ZNF674 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZNF674 were set to Mental retardation
Additional findings_Paediatric v0.2 ZNF252P Zornitza Stark gene: ZNF252P was added
gene: ZNF252P was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ZNF252P was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZNF252P were set to Hypothyroidism
Additional findings_Paediatric v0.2 ZFPM2 Zornitza Stark gene: ZFPM2 was added
gene: ZFPM2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZFPM2 were set to Tetralogy of Fallot
Additional findings_Paediatric v0.2 YARS2 Zornitza Stark gene: YARS2 was added
gene: YARS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia
Additional findings_Paediatric v0.2 WRAP53 Zornitza Stark gene: WRAP53 was added
gene: WRAP53 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita
Additional findings_Paediatric v0.2 WNT7A Zornitza Stark gene: WNT7A was added
gene: WNT7A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT7A were set to Ulna and fibula absence of with severe limb deficiency
Additional findings_Paediatric v0.2 WNT5A Zornitza Stark gene: WNT5A was added
gene: WNT5A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WNT5A were set to Robinow syndrome
Additional findings_Paediatric v0.2 WNT3 Zornitza Stark gene: WNT3 was added
gene: WNT3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT3 were set to Tetra-amelia, autosomal recessive
Additional findings_Paediatric v0.2 WNK1 Zornitza Stark gene: WNK1 was added
gene: WNK1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNK1 were set to Neuropathy, hereditary sensory and autonomic, type I
Additional findings_Paediatric v0.2 WDR36 Zornitza Stark gene: WDR36 was added
gene: WDR36 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: WDR36 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WDR36 were set to Glaucoma
Additional findings_Paediatric v0.2 WDR35 Zornitza Stark gene: WDR35 was added
gene: WDR35 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to Cranioectodermal dysplasia
Additional findings_Paediatric v0.2 WDR19 Zornitza Stark gene: WDR19 was added
gene: WDR19 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR19 were set to Nephronophthisis
Additional findings_Paediatric v0.2 VSX1 Zornitza Stark gene: VSX1 was added
gene: VSX1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: VSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VSX1 were set to Keratoconus
Additional findings_Paediatric v0.2 VPS53 Zornitza Stark gene: VPS53 was added
gene: VPS53 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS53 were set to Progressive cerebello-cerebral atrophy
Additional findings_Paediatric v0.2 VAMP1 Zornitza Stark gene: VAMP1 was added
gene: VAMP1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VAMP1 were set to Spastic ataxia
Additional findings_Paediatric v0.2 UQCRQ Zornitza Stark gene: UQCRQ was added
gene: UQCRQ was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency
Additional findings_Paediatric v0.2 UQCRB Zornitza Stark gene: UQCRB was added
gene: UQCRB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRB were set to Mitochondrial complex III deficiency
Additional findings_Paediatric v0.2 UGT1A5 Zornitza Stark gene: UGT1A5 was added
gene: UGT1A5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: UGT1A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A5 were set to UDP glucuronosyltransferase deficiency
Additional findings_Paediatric v0.2 UGT1A4 Zornitza Stark gene: UGT1A4 was added
gene: UGT1A4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: UGT1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A4 were set to Crigler-Najjar syndrome
Additional findings_Paediatric v0.2 UCP2 Zornitza Stark gene: UCP2 was added
gene: UCP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: UCP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: UCP2 were set to Hyperinsulinism
Additional findings_Paediatric v0.2 UBA1 Zornitza Stark gene: UBA1 was added
gene: UBA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked infantile
Additional findings_Paediatric v0.2 TUBA8 Zornitza Stark gene: TUBA8 was added
gene: TUBA8 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBA8 were set to Polymicrogyria with optic nerve hypoplasia
Additional findings_Paediatric v0.2 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.2 TSPYL1 Zornitza Stark gene: TSPYL1 was added
gene: TSPYL1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TSPYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSPYL1 were set to Sudden infant death with dysgenesis of the testes syndrome
Additional findings_Paediatric v0.2 TSPEAR Zornitza Stark gene: TSPEAR was added
gene: TSPEAR was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSPEAR were set to Sensorineural deafness
Additional findings_Paediatric v0.2 TSFM Zornitza Stark gene: TSFM was added
gene: TSFM was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency
Additional findings_Paediatric v0.2 TRPM2 Zornitza Stark gene: TRPM2 was added
gene: TRPM2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TRPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPM2 were set to ALS and Parkinson's disease
Additional findings_Paediatric v0.2 TRIP11 Zornitza Stark gene: TRIP11 was added
gene: TRIP11 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP11 were set to Achondrogenesis type 1A
Additional findings_Paediatric v0.2 TRHR Zornitza Stark gene: TRHR was added
gene: TRHR was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TRHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRHR were set to Thyrotropin-releasing hormone resistance, generalized
Additional findings_Paediatric v0.2 TRH Zornitza Stark gene: TRH was added
gene: TRH was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TRH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRH were set to Thyrotropin-releasing hormone deficiency
Additional findings_Paediatric v0.2 TRDN Zornitza Stark gene: TRDN was added
gene: TRDN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRDN were set to Catecholaminergic polymorphic ventricular tachycardia
Additional findings_Paediatric v0.2 TPRN Zornitza Stark gene: TPRN was added
gene: TPRN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TPRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPRN were set to Deafness, autosomal recessive
Additional findings_Paediatric v0.2 TNXB Zornitza Stark gene: TNXB was added
gene: TNXB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNXB were set to Ehlers-Danlos syndrome due to tenascin X deficiency
Additional findings_Paediatric v0.2 TMPO Zornitza Stark gene: TMPO was added
gene: TMPO was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TMPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMPO were set to Cardiomyopathy, dilated
Additional findings_Paediatric v0.2 TMEM237 Zornitza Stark gene: TMEM237 was added
gene: TMEM237 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM237 were set to Joubert syndrome
Additional findings_Paediatric v0.2 TMEM216 Zornitza Stark Added phenotypes Meckel syndrome for gene: TMEM216
Additional findings_Paediatric v0.2 TMEM216 Zornitza Stark gene: TMEM216 was added
gene: TMEM216 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM216 were set to Joubert syndrome
Additional findings_Paediatric v0.2 TMC8 Zornitza Stark gene: TMC8 was added
gene: TMC8 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TMC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMC8 were set to Epidermodysplasia verruciformi
Additional findings_Paediatric v0.2 TJP2 Zornitza Stark gene: TJP2 was added
gene: TJP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TJP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TJP2 were set to Hypercholanemia, familial
Additional findings_Paediatric v0.2 THBS1 Zornitza Stark gene: THBS1 was added
gene: THBS1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: THBS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: THBS1 were set to Pulmonary hypertension
Additional findings_Paediatric v0.2 THBD Zornitza Stark gene: THBD was added
gene: THBD was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: THBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: THBD were set to Haemolytic uraemic syndrome
Additional findings_Paediatric v0.2 TGIF1 Zornitza Stark gene: TGIF1 was added
gene: TGIF1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGIF1 were set to Holoprosencephaly-4
Additional findings_Paediatric v0.2 TGFBR3 Zornitza Stark gene: TGFBR3 was added
gene: TGFBR3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TGFBR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR3 were set to Premature ovarian failure
Additional findings_Paediatric v0.2 TGFB3 Zornitza Stark gene: TGFB3 was added
gene: TGFB3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB3 were set to Arrhythmogenic right ventricular dysplasia
Additional findings_Paediatric v0.2 TGFB1 Zornitza Stark gene: TGFB1 was added
gene: TGFB1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB1 were set to Camurati-Engelmann disease
Additional findings_Paediatric v0.2 TFR2 Zornitza Stark gene: TFR2 was added
gene: TFR2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TFR2 were set to Hemochromatosis type 3
Additional findings_Paediatric v0.2 TCTN3 Zornitza Stark gene: TCTN3 was added
gene: TCTN3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were set to Joubert syndrome
Additional findings_Paediatric v0.2 TCTN1 Zornitza Stark gene: TCTN1 was added
gene: TCTN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN1 were set to Joubert syndrome
Additional findings_Paediatric v0.2 TCAP Zornitza Stark Source BabySeq Category C gene was added to TCAP.
Source Expert Review Red was added to TCAP.
Added phenotypes Cardiomyopathy, dilated for gene: TCAP
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 TBX20 Zornitza Stark gene: TBX20 was added
gene: TBX20 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX20 were set to Congenital heart disease
Additional findings_Paediatric v0.2 TBCE Zornitza Stark gene: TBCE was added
gene: TBCE was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCE were set to Hypoparathyroidism retardation dysmorphism syndrome
Additional findings_Paediatric v0.2 TARDBP Zornitza Stark gene: TARDBP was added
gene: TARDBP was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TARDBP were set to Amyotrophic lateral sclerosis type 10
Additional findings_Paediatric v0.2 TAB2 Zornitza Stark gene: TAB2 was added
gene: TAB2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TAB2 were set to Congenital heart disease, nonsyndromic
Additional findings_Paediatric v0.2 SYT14 Zornitza Stark gene: SYT14 was added
gene: SYT14 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYT14 were set to Spinocerebellar ataxia, autosomal recessive 11
Additional findings_Paediatric v0.2 SYNE4 Zornitza Stark gene: SYNE4 was added
gene: SYNE4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SYNE4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYNE4 were set to Hearing loss
Additional findings_Paediatric v0.2 STAC3 Zornitza Stark gene: STAC3 was added
gene: STAC3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAC3 were set to Myopathy, Native American
Additional findings_Paediatric v0.2 ST3GAL5 Zornitza Stark gene: ST3GAL5 was added
gene: ST3GAL5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL5 were set to Amish infantile epilepsy syndrome
Additional findings_Paediatric v0.2 ST14 Zornitza Stark gene: ST14 was added
gene: ST14 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST14 were set to Ichthyosis hypotrichosis syndrome
Additional findings_Paediatric v0.2 SPTLC2 Zornitza Stark gene: SPTLC2 was added
gene: SPTLC2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC
Additional findings_Paediatric v0.2 SPEG Zornitza Stark gene: SPEG was added
gene: SPEG was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPEG were set to Centronuclear myopathy with dilated cardiomyopathy
Additional findings_Paediatric v0.2 SP7 Zornitza Stark gene: SP7 was added
gene: SP7 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SP7 were set to Osteogenesis imperfecta, type XII
Additional findings_Paediatric v0.2 SOX18 Zornitza Stark gene: SOX18 was added
gene: SOX18 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SOX18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome
Additional findings_Paediatric v0.2 SOD1 Zornitza Stark gene: SOD1 was added
gene: SOD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SOD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOD1 were set to Amyotrophic lateral sclerosis
Additional findings_Paediatric v0.2 SNAP29 Zornitza Stark gene: SNAP29 was added
gene: SNAP29 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Additional findings_Paediatric v0.2 SMO Zornitza Stark gene: SMO was added
gene: SMO was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMO were set to Medulloblastoma
Additional findings_Paediatric v0.2 SMAD9 Zornitza Stark gene: SMAD9 was added
gene: SMAD9 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD9 were set to Pulmonary arterial hypertension
Additional findings_Paediatric v0.2 SMAD6 Zornitza Stark gene: SMAD6 was added
gene: SMAD6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD6 were set to Cardiovascular malformation, congenital
Additional findings_Paediatric v0.2 SMAD1 Zornitza Stark gene: SMAD1 was added
gene: SMAD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SMAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD1 were set to Pulmonary arterial hypertension
Additional findings_Paediatric v0.2 SLCO1B3 Zornitza Stark gene: SLCO1B3 was added
gene: SLCO1B3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLCO1B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLCO1B3 were set to Hyperbilirubinemia, Rotor type, digenic
Additional findings_Paediatric v0.2 SLCO1B1 Zornitza Stark gene: SLCO1B1 was added
gene: SLCO1B1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLCO1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLCO1B1 were set to Hyperbilirubinemia, Rotor type, digenic
Additional findings_Paediatric v0.2 SLC9A3R1 Zornitza Stark gene: SLC9A3R1 was added
gene: SLC9A3R1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC9A3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC9A3R1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 2
Additional findings_Paediatric v0.2 SLC6A2 Zornitza Stark gene: SLC6A2 was added
gene: SLC6A2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC6A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC6A2 were set to Orthostatic intolerance
Additional findings_Paediatric v0.2 SLC6A19 Zornitza Stark gene: SLC6A19 was added
gene: SLC6A19 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC6A19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A19 were set to Hartnup disorder
Additional findings_Paediatric v0.2 SLC4A4 Zornitza Stark gene: SLC4A4 was added
gene: SLC4A4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities
Additional findings_Paediatric v0.2 SLC4A10 Zornitza Stark gene: SLC4A10 was added
gene: SLC4A10 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC4A10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC4A10 were set to Epilepsy & mental retardation
Additional findings_Paediatric v0.2 SLC41A1 Zornitza Stark gene: SLC41A1 was added
gene: SLC41A1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC41A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC41A1 were set to Parkinson disease, idiopathic
Additional findings_Paediatric v0.2 SLC35C1 Zornitza Stark gene: SLC35C1 was added
gene: SLC35C1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35C1 were set to Congenital disorder of glycosylation 2c
Additional findings_Paediatric v0.2 SLC35A2 Zornitza Stark gene: SLC35A2 was added
gene: SLC35A2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC35A2 were set to Early-onset epileptic encephalopathy
Additional findings_Paediatric v0.2 SLC35A1 Zornitza Stark gene: SLC35A1 was added
gene: SLC35A1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35A1 were set to CDG syndrome type IIf
Additional findings_Paediatric v0.2 SLC33A1 Zornitza Stark Mode of inheritance for gene SLC33A1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Spastic paraplegia, autosomal dominant for gene: SLC33A1
Additional findings_Paediatric v0.2 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss and low serum copper and ceruloplasmin
Additional findings_Paediatric v0.2 SLC27A5 Zornitza Stark gene: SLC27A5 was added
gene: SLC27A5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC27A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC27A5 were set to Bile acid amidation defect
Additional findings_Paediatric v0.2 SLC25A22 Zornitza Stark gene: SLC25A22 was added
gene: SLC25A22 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A22 were set to Early myoclonic encephalopathy
Additional findings_Paediatric v0.2 SLC25A12 Zornitza Stark gene: SLC25A12 was added
gene: SLC25A12 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A12 were set to Hypomyelination, global cerebral
Additional findings_Paediatric v0.2 SLC16A12 Zornitza Stark gene: SLC16A12 was added
gene: SLC16A12 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC16A12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC16A12 were set to Cataract, juvenile with microcornea and renal glucosuria
Additional findings_Paediatric v0.2 SLC16A1 Zornitza Stark gene: SLC16A1 was added
gene: SLC16A1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC16A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC16A1 were set to Monocarboxylate transporter 1 deficiency
Additional findings_Paediatric v0.2 SLC12A5 Zornitza Stark gene: SLC12A5 was added
gene: SLC12A5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC12A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC12A5 were set to Febrile seizures
Additional findings_Paediatric v0.2 SLC11A2 Zornitza Stark gene: SLC11A2 was added
gene: SLC11A2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC11A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC11A2 were set to Anemia, hypochromic microcytic
Additional findings_Paediatric v0.2 SIX5 Zornitza Stark gene: SIX5 was added
gene: SIX5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SIX5 were set to Branchiootorenal syndrome
Additional findings_Paediatric v0.2 SIX2 Zornitza Stark gene: SIX2 was added
gene: SIX2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SIX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SIX2 were set to Renal hypodysplasia
Additional findings_Paediatric v0.2 SHOC2 Zornitza Stark gene: SHOC2 was added
gene: SHOC2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair
Additional findings_Paediatric v0.2 SH3BP2 Zornitza Stark gene: SH3BP2 was added
gene: SH3BP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SH3BP2 were set to Cherubism
Additional findings_Paediatric v0.2 SGCD Zornitza Stark Source BabySeq Category C gene was added to SGCD.
Source Expert Review Red was added to SGCD.
Added phenotypes Cardiomyopathy, dilated for gene: SGCD
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 SFTPC Zornitza Stark gene: SFTPC was added
gene: SFTPC was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SFTPC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SFTPC were set to Interstitial lung disease
Additional findings_Paediatric v0.2 SFTPA2 Zornitza Stark gene: SFTPA2 was added
gene: SFTPA2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SFTPA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SFTPA2 were set to Pulmonary fibrosis, idiopathic
Additional findings_Paediatric v0.2 SERPIND1 Zornitza Stark gene: SERPIND1 was added
gene: SERPIND1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SERPIND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SERPIND1 were set to Heparin cofactor 2 deficiency
Additional findings_Paediatric v0.2 SERPINC1 Zornitza Stark gene: SERPINC1 was added
gene: SERPINC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SERPINC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SERPINC1 were set to Thrombophilia due to antithrombin III deficiency
Additional findings_Paediatric v0.2 SERPINB6 Zornitza Stark gene: SERPINB6 was added
gene: SERPINB6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SERPINB6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINB6 were set to Deafness, autosomal recessive
Additional findings_Paediatric v0.2 SERPINA1 Zornitza Stark gene: SERPINA1 was added
gene: SERPINA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINA1 were set to Antitrypsin alpha 1 deficiency
Additional findings_Paediatric v0.2 SEMA3A Zornitza Stark gene: SEMA3A was added
gene: SEMA3A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SEMA3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SEMA3A were set to Kallmann syndrome 1
Additional findings_Paediatric v0.2 SEC63 Zornitza Stark gene: SEC63 was added
gene: SEC63 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SEC63 were set to Polycystic liver disease
Additional findings_Paediatric v0.2 SCP2 Zornitza Stark gene: SCP2 was added
gene: SCP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCP2 were set to Leukoencephalopathy - dystonia - motor neuropathy
Additional findings_Paediatric v0.2 SCO1 Zornitza Stark gene: SCO1 was added
gene: SCO1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO1 were set to Hepatic failure, early onset, and neurologic disorder
Additional findings_Paediatric v0.2 SCNN1G Zornitza Stark gene: SCNN1G was added
gene: SCNN1G was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SCNN1G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism
Additional findings_Paediatric v0.2 SCNN1B Zornitza Stark Source BabySeq Category C gene was added to SCNN1B.
Source Expert Review Red was added to SCNN1B.
Mode of inheritance for gene SCNN1B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Liddle syndrome for gene: SCNN1B
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 SCN4B Zornitza Stark gene: SCN4B was added
gene: SCN4B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SCN4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN4B were set to Long QT syndrome
Additional findings_Paediatric v0.2 SCN4A Zornitza Stark Source BabySeq Category C gene was added to SCN4A.
Source Expert Review Red was added to SCN4A.
Added phenotypes Hypokalemic periodic paralysis, type 2 for gene: SCN4A
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 SCN3B Zornitza Stark gene: SCN3B was added
gene: SCN3B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SCN3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN3B were set to Brugada syndrome
Additional findings_Paediatric v0.2 SCN2B Zornitza Stark gene: SCN2B was added
gene: SCN2B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SCN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN2B were set to Atrial fibrillation
Additional findings_Paediatric v0.2 SCN1B Zornitza Stark gene: SCN1B was added
gene: SCN1B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN1B were set to Brugada syndrome
Additional findings_Paediatric v0.2 SC5D Zornitza Stark gene: SC5D was added
gene: SC5D was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SC5D were set to Lathosterolosis
Additional findings_Paediatric v0.2 RYR1 Zornitza Stark Source BabySeq Category C gene was added to RYR1.
Source Expert Review Red was added to RYR1.
Mode of inheritance for gene RYR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Congenital fiber type disproportion for gene: RYR1
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 RPS7 Zornitza Stark gene: RPS7 was added
gene: RPS7 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS7 were set to Diamond-Blackfan anemia
Additional findings_Paediatric v0.2 RPS10 Zornitza Stark gene: RPS10 was added
gene: RPS10 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS10 were set to Diamond-Blackfan anemia
Additional findings_Paediatric v0.2 RPL35A Zornitza Stark gene: RPL35A was added
gene: RPL35A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL35A were set to Diamond-Blackfan anemia
Additional findings_Paediatric v0.2 RHAG Zornitza Stark gene: RHAG was added
gene: RHAG was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: RHAG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RHAG were set to Rh-deficiency syndrome
Additional findings_Paediatric v0.2 RFX6 Zornitza Stark gene: RFX6 was added
gene: RFX6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFX6 were set to Diabetes, neonatal, with intestinal atresia
Additional findings_Paediatric v0.2 RELN Zornitza Stark gene: RELN was added
gene: RELN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RELN were set to Lissencephaly syndrome
Additional findings_Paediatric v0.2 RDX Zornitza Stark gene: RDX was added
gene: RDX was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: RDX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RDX were set to Deafness, autosomal recessive
Additional findings_Paediatric v0.2 RANGRF Zornitza Stark gene: RANGRF was added
gene: RANGRF was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: RANGRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RANGRF were set to Brugada syndrome
Additional findings_Paediatric v0.2 RAD51B Zornitza Stark gene: RAD51B was added
gene: RAD51B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: RAD51B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAD51B were set to Breast and/or ovarian cancer
Additional findings_Paediatric v0.2 RAB3GAP2 Zornitza Stark gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP2 were set to Warburg micro syndrome
Additional findings_Paediatric v0.2 RAB10 Zornitza Stark gene: RAB10 was added
gene: RAB10 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: RAB10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAB10 were set to Congenital heart disease
Additional findings_Paediatric v0.2 NECTIN1 Zornitza Stark gene: NECTIN1 was added
gene: NECTIN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN1 were set to Cleft lip / palate
Additional findings_Paediatric v0.2 PSEN2 Zornitza Stark gene: PSEN2 was added
gene: PSEN2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PSEN2 were set to Alzheimer disease, type 4
Additional findings_Paediatric v0.2 PSEN1 Zornitza Stark gene: PSEN1 was added
gene: PSEN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PSEN1 were set to Alzheimer disease, type 3
Additional findings_Paediatric v0.2 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAT1 were set to Phosphoserine aminotransferase deficiency
Additional findings_Paediatric v0.2 PRRX1 Zornitza Stark gene: PRRX1 was added
gene: PRRX1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PRRX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRRX1 were set to Agnathia-otocephaly complex
Additional findings_Paediatric v0.2 PRPS1 Zornitza Stark Added phenotypes Charcot-Marie-Tooth disease for gene: PRPS1
Additional findings_Paediatric v0.2 PRPS1 Zornitza Stark gene: PRPS1 was added
gene: PRPS1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PRPS1 were set to Arts syndrome
Additional findings_Paediatric v0.2 PRODH Zornitza Stark gene: PRODH was added
gene: PRODH was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PRODH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRODH were set to Hyperprolinemia, type I
Additional findings_Paediatric v0.2 PRKCSH Zornitza Stark gene: PRKCSH was added
gene: PRKCSH was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKCSH were set to Polycystic liver disease
Additional findings_Paediatric v0.2 PRKAG2 Zornitza Stark Source BabySeq Category C gene was added to PRKAG2.
Source Expert Review Red was added to PRKAG2.
Added phenotypes Glycogen storage disease of heart, lethal congenital for gene: PRKAG2
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 PRICKLE1 Zornitza Stark gene: PRICKLE1 was added
gene: PRICKLE1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRICKLE1 were set to Epilepsy, progressive myoclonic 1B
Additional findings_Paediatric v0.2 PREPL Zornitza Stark gene: PREPL was added
gene: PREPL was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PREPL were set to Hypotonia - cystinuria syndrome
Additional findings_Paediatric v0.2 PRDM16 Zornitza Stark gene: PRDM16 was added
gene: PRDM16 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRDM16 were set to Left ventricular noncompaction
Additional findings_Paediatric v0.2 PPOX Zornitza Stark gene: PPOX was added
gene: PPOX was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPOX were set to Porphyria variegata
Additional findings_Paediatric v0.2 POMC Zornitza Stark gene: POMC was added
gene: POMC was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMC were set to Proopiomelanocortin deficiency
Additional findings_Paediatric v0.2 PODXL Zornitza Stark gene: PODXL was added
gene: PODXL was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PODXL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PODXL were set to Focal and segmental glomerulosclerosis
Additional findings_Paediatric v0.2 PNPLA1 Zornitza Stark gene: PNPLA1 was added
gene: PNPLA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA1 were set to Ichthyosis, autosomal recessive congenital
Additional findings_Paediatric v0.2 PMS2 Zornitza Stark gene: PMS2 was added
gene: PMS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PMS2 were set to Lynch syndrome
Additional findings_Paediatric v0.2 PLOD2 Zornitza Stark gene: PLOD2 was added
gene: PLOD2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD2 were set to Bruck syndrome
Additional findings_Paediatric v0.2 PLN Zornitza Stark Source BabySeq Category C gene was added to PLN.
Source Expert Review Red was added to PLN.
Added phenotypes Cardiomyopathy, familial hypertrophic for gene: PLN
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 PIGA Zornitza Stark gene: PIGA was added
gene: PIGA was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIGA were set to Epileptic encephalopathy, early-onset
Additional findings_Paediatric v0.2 PHOX2A Zornitza Stark gene: PHOX2A was added
gene: PHOX2A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PHOX2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PHOX2A were set to Fibrosis of extraocular muscles, congenital
Additional findings_Paediatric v0.2 PHKA1 Zornitza Stark gene: PHKA1 was added
gene: PHKA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHKA1 were set to Phosphorylase kinase deficiency
Additional findings_Paediatric v0.2 PEX19 Zornitza Stark gene: PEX19 was added
gene: PEX19 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX19 were set to Zellweger syndrome
Additional findings_Paediatric v0.2 PEX16 Zornitza Stark gene: PEX16 was added
gene: PEX16 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Zellweger syndrome
Additional findings_Paediatric v0.2 PEX14 Zornitza Stark gene: PEX14 was added
gene: PEX14 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX14 were set to Zellweger syndrome
Additional findings_Paediatric v0.2 PEX11B Zornitza Stark gene: PEX11B was added
gene: PEX11B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder
Additional findings_Paediatric v0.2 PDSS2 Zornitza Stark gene: PDSS2 was added
gene: PDSS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDSS2 were set to Leigh syndrome with nephropathy and COQ10 deficiency
Additional findings_Paediatric v0.2 PDSS1 Zornitza Stark gene: PDSS1 was added
gene: PDSS1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDSS1 were set to Deafness - encephaloneuropathy - obesity - valvulopathy Neonatal
Additional findings_Paediatric v0.2 PDP1 Zornitza Stark gene: PDP1 was added
gene: PDP1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDP1 were set to Pyruvate dehydrogenase phosphatase deficiency
Additional findings_Paediatric v0.2 PDLIM3 Zornitza Stark gene: PDLIM3 was added
gene: PDLIM3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PDLIM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDLIM3 were set to Cardiomyopathy, dilated
Additional findings_Paediatric v0.2 PDE11A Zornitza Stark gene: PDE11A was added
gene: PDE11A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PDE11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDE11A were set to Adrenocortical hyperplasia
Additional findings_Paediatric v0.2 PALB2 Zornitza Stark gene: PALB2 was added
gene: PALB2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PALB2 were set to Breast cancer
Additional findings_Paediatric v0.2 PABPN1 Zornitza Stark gene: PABPN1 was added
gene: PABPN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PABPN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PABPN1 were set to Oculopharyngeal muscular dystrophy
Additional findings_Paediatric v0.2 P2RX2 Zornitza Stark gene: P2RX2 was added
gene: P2RX2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: P2RX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: P2RX2 were set to Hearing loss
Additional findings_Paediatric v0.2 OTUD4 Zornitza Stark gene: OTUD4 was added
gene: OTUD4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: OTUD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTUD4 were set to Hypogonadotropic hypogonadism, ataxia & dementia
Additional findings_Paediatric v0.2 OTOG Zornitza Stark gene: OTOG was added
gene: OTOG was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: OTOG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTOG were set to Deafness, autosomal recessive
Additional findings_Paediatric v0.2 ORC6 Zornitza Stark gene: ORC6 was added
gene: ORC6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC6 were set to Meier-Gorlin syndrome
Additional findings_Paediatric v0.2 ORC4 Zornitza Stark gene: ORC4 was added
gene: ORC4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC4 were set to Meier-Gorlin syndrome
Additional findings_Paediatric v0.2 OPA3 Zornitza Stark Source BabySeq Category C gene was added to OPA3.
Source Expert Review Red was added to OPA3.
Mode of inheritance for gene OPA3 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Optic atrophy 3 with cataract for gene: OPA3
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 NUP62 Zornitza Stark gene: NUP62 was added
gene: NUP62 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile
Additional findings_Paediatric v0.2 NUP155 Zornitza Stark gene: NUP155 was added
gene: NUP155 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NUP155 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP155 were set to Atrial fibrillation
Additional findings_Paediatric v0.2 NUB1 Zornitza Stark gene: NUB1 was added
gene: NUB1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NUB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NUB1 were set to Congenital heart disease
Additional findings_Paediatric v0.2 NTRK1 Zornitza Stark Source BabySeq Category C gene was added to NTRK1.
Source Expert Review Red was added to NTRK1.
Mode of inheritance for gene NTRK1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Medullary thyroid carcinoma, familial for gene: NTRK1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 NSDHL Zornitza Stark Source BabySeq Category C gene was added to NSDHL.
Source Expert Review Red was added to NSDHL.
Added phenotypes CK syndrome for gene: NSDHL
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 NRXN1 Zornitza Stark gene: NRXN1 was added
gene: NRXN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NRXN1 was set to Unknown
Phenotypes for gene: NRXN1 were set to Autism
Additional findings_Paediatric v0.2 NRG1 Zornitza Stark gene: NRG1 was added
gene: NRG1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NRG1 were set to Hirschsprung disease
Additional findings_Paediatric v0.2 NR1H4 Zornitza Stark gene: NR1H4 was added
gene: NR1H4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NR1H4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NR1H4 were set to Cholestasis, infantile
Additional findings_Paediatric v0.2 NPPA Zornitza Stark gene: NPPA was added
gene: NPPA was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NPPA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NPPA were set to Atrial fibrillation
Additional findings_Paediatric v0.2 NOTCH1 Zornitza Stark gene: NOTCH1 was added
gene: NOTCH1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOTCH1 were set to Aortic valve disease
Additional findings_Paediatric v0.2 NOP10 Zornitza Stark gene: NOP10 was added
gene: NOP10 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NOP10 were set to Dyskeratosis congenita
Additional findings_Paediatric v0.2 NME8 Zornitza Stark gene: NME8 was added
gene: NME8 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NME8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NME8 were set to Ciliary dyskinesia, primary
Additional findings_Paediatric v0.2 NLRP7 Zornitza Stark gene: NLRP7 was added
gene: NLRP7 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NLRP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NLRP7 were set to Hydatidiform mole
Additional findings_Paediatric v0.2 NLGN4X Zornitza Stark gene: NLGN4X was added
gene: NLGN4X was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NLGN4X was set to Unknown
Phenotypes for gene: NLGN4X were set to Autism
Additional findings_Paediatric v0.2 NLGN3 Zornitza Stark gene: NLGN3 was added
gene: NLGN3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NLGN3 was set to Unknown
Phenotypes for gene: NLGN3 were set to Autism
Additional findings_Paediatric v0.2 NKX3-2 Zornitza Stark gene: NKX3-2 was added
gene: NKX3-2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX3-2 were set to Spondylo-megaepiphyseal-metaphyseal dysplasia
Additional findings_Paediatric v0.2 NIN Zornitza Stark gene: NIN was added
gene: NIN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIN were set to Seckel syndrome
Additional findings_Paediatric v0.2 NHP2 Zornitza Stark gene: NHP2 was added
gene: NHP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHP2 were set to Dyskeratosis congenita
Additional findings_Paediatric v0.2 NFATC1 Zornitza Stark gene: NFATC1 was added
gene: NFATC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NFATC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NFATC1 were set to Congenital heart disease
Additional findings_Paediatric v0.2 NEXN Zornitza Stark Added phenotypes Cardiomyopathy, familial hypertrophic for gene: NEXN
Additional findings_Paediatric v0.2 NEXN Zornitza Stark gene: NEXN was added
gene: NEXN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEXN were set to Cardiomyopathy, dilated
Additional findings_Paediatric v0.2 NEUROG3 Zornitza Stark gene: NEUROG3 was added
gene: NEUROG3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEUROG3 were set to Diarrhea 4, malabsorptive, congenital
Additional findings_Paediatric v0.2 NEK8 Zornitza Stark gene: NEK8 was added
gene: NEK8 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK8 were set to Nephronophthisis
Additional findings_Paediatric v0.2 NEK1 Zornitza Stark gene: NEK1 was added
gene: NEK1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK1 were set to Short rib-polydactyly syndorme, type II
Additional findings_Paediatric v0.2 NEDD4L Zornitza Stark gene: NEDD4L was added
gene: NEDD4L was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEDD4L were set to Epilepsy, photosensitive generalised
Additional findings_Paediatric v0.2 NEBL Zornitza Stark gene: NEBL was added
gene: NEBL was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEBL were set to Cardiomyopathy, dilated
Additional findings_Paediatric v0.2 NCF4 Zornitza Stark gene: NCF4 was added
gene: NCF4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NCF4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF4 were set to Chronic granulomatous disease
Additional findings_Paediatric v0.2 NAA15 Zornitza Stark gene: NAA15 was added
gene: NAA15 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NAA15 were set to Congenital heart disease
Additional findings_Paediatric v0.2 NAA10 Zornitza Stark gene: NAA10 was added
gene: NAA10 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NAA10 were set to N-terminal acetyltransferase deficiency
Additional findings_Paediatric v0.2 MYPN Zornitza Stark Added phenotypes Cardiomyopathy, hypertrophic for gene: MYPN
Additional findings_Paediatric v0.2 MYPN Zornitza Stark gene: MYPN was added
gene: MYPN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MYPN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYPN were set to Cardiomyopathy, dilated
Additional findings_Paediatric v0.2 MYOZ2 Zornitza Stark gene: MYOZ2 was added
gene: MYOZ2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MYOZ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYOZ2 were set to Cardiomyopathy, hypertrophic
Additional findings_Paediatric v0.2 MYOT Zornitza Stark gene: MYOT was added
gene: MYOT was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MYOT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYOT were set to Myofibrillar myopathy
Additional findings_Paediatric v0.2 MYOM1 Zornitza Stark gene: MYOM1 was added
gene: MYOM1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MYOM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYOM1 were set to Cardiomyopathy, hypertrophic
Additional findings_Paediatric v0.2 MYO5A Zornitza Stark gene: MYO5A was added
gene: MYO5A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5A were set to Griscelli syndrome
Additional findings_Paediatric v0.2 MYO1F Zornitza Stark gene: MYO1F was added
gene: MYO1F was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MYO1F was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO1F were set to Sensorineural hearing loss
Additional findings_Paediatric v0.2 MYO1E Zornitza Stark gene: MYO1E was added
gene: MYO1E was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MYO1E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO1E were set to Focal segmental glomerulosclerosis
Additional findings_Paediatric v0.2 MYO1C Zornitza Stark gene: MYO1C was added
gene: MYO1C was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MYO1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO1C were set to Sensorineural hearing loss
Additional findings_Paediatric v0.2 MYLK2 Zornitza Stark gene: MYLK2 was added
gene: MYLK2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MYLK2 was set to Unknown
Phenotypes for gene: MYLK2 were set to Cardiomyopathy, hypertrophic
Additional findings_Paediatric v0.2 MYH7 Zornitza Stark Added phenotypes Congenital fiber type disproportion for gene: MYH7
Additional findings_Paediatric v0.2 MYH7 Zornitza Stark Source BabySeq Category C gene was added to MYH7.
Source Expert Review Red was added to MYH7.
Added phenotypes Scapuloperoneal syndrome, myopathic type for gene: MYH7
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 MYH6 Zornitza Stark Added phenotypes Cardiomyopathy, familial hypertrophic for gene: MYH6
Additional findings_Paediatric v0.2 MYH6 Zornitza Stark Added phenotypes Cardiomyopathy, dilated for gene: MYH6
Additional findings_Paediatric v0.2 MYH6 Zornitza Stark gene: MYH6 was added
gene: MYH6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH6 were set to Atrial septal defect
Additional findings_Paediatric v0.2 MYBPC3 Zornitza Stark Source BabySeq Category C gene was added to MYBPC3.
Source Expert Review Red was added to MYBPC3.
Added phenotypes Cardiomyopathy, dilated for gene: MYBPC3
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 MYBPC1 Zornitza Stark gene: MYBPC1 was added
gene: MYBPC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MYBPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYBPC1 were set to Distal arthrogryposis type I
Additional findings_Paediatric v0.2 CAVIN4 Zornitza Stark gene: CAVIN4 was added
gene: CAVIN4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CAVIN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CAVIN4 were set to Cardiomyopathy, dilated
Additional findings_Paediatric v0.2 MUC5B Zornitza Stark gene: MUC5B was added
gene: MUC5B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MUC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MUC5B were set to Pulmonary fibrosis, idiopathic
Additional findings_Paediatric v0.2 MTO1 Zornitza Stark gene: MTO1 was added
gene: MTO1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTO1 were set to Hypertrophic cardiomyopathy & lactic acidosis
Additional findings_Paediatric v0.2 MT-ND6 Zornitza Stark gene: MT-ND6 was added
gene: MT-ND6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND6 were set to Leber hereditary optic neuropathy
Additional findings_Paediatric v0.2 MT-ND4 Zornitza Stark gene: MT-ND4 was added
gene: MT-ND4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND4 were set to Leber hereditary optic neuropathy
Additional findings_Paediatric v0.2 MT-ND1 Zornitza Stark gene: MT-ND1 was added
gene: MT-ND1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND1 were set to Leber hereditary optic neuropathy
Additional findings_Paediatric v0.2 MSRB3 Zornitza Stark gene: MSRB3 was added
gene: MSRB3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MSRB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MSRB3 were set to Deafness, autosomal recessive
Additional findings_Paediatric v0.2 MSH6 Zornitza Stark gene: MSH6 was added
gene: MSH6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MSH6 were set to Lynch syndrome
Additional findings_Paediatric v0.2 MSH2 Zornitza Stark gene: MSH2 was added
gene: MSH2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MSH2 were set to Lynch syndrome
Additional findings_Paediatric v0.2 MRPS22 Zornitza Stark gene: MRPS22 was added
gene: MRPS22 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS22 were set to Mitochondrial respiratory chain disorder
Additional findings_Paediatric v0.2 MRPS16 Zornitza Stark gene: MRPS16 was added
gene: MRPS16 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS16 were set to Mitochondrial respiratory chain disorder
Additional findings_Paediatric v0.2 MPDU1 Zornitza Stark gene: MPDU1 was added
gene: MPDU1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If
Additional findings_Paediatric v0.2 MOGS Zornitza Stark gene: MOGS was added
gene: MOGS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOGS were set to Glucosidase 1 deficiency
Additional findings_Paediatric v0.2 MLPH Zornitza Stark gene: MLPH was added
gene: MLPH was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MLPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLPH were set to Griscelli syndrome type 3
Additional findings_Paediatric v0.2 MLH1 Zornitza Stark gene: MLH1 was added
gene: MLH1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MLH1 were set to Lynch syndrome
Additional findings_Paediatric v0.2 MIR96 Zornitza Stark gene: MIR96 was added
gene: MIR96 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MIR96 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIR96 were set to Hearing loss
Additional findings_Paediatric v0.2 MIB1 Zornitza Stark gene: MIB1 was added
gene: MIB1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIB1 were set to Left ventricular noncompaction
Additional findings_Paediatric v0.2 MGAT2 Zornitza Stark gene: MGAT2 was added
gene: MGAT2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGAT2 were set to CDG syndrome type IIa
Additional findings_Paediatric v0.2 MESP2 Zornitza Stark gene: MESP2 was added
gene: MESP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MESP2 were set to Spondylocostal dysostosis, autosomal recessive 2
Additional findings_Paediatric v0.2 MED25 Zornitza Stark gene: MED25 was added
gene: MED25 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED25 were set to Charcot-Marie-Tooth disease
Additional findings_Paediatric v0.2 MED20 Zornitza Stark gene: MED20 was added
gene: MED20 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MED20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MED20 were set to Congenital heart disease
Additional findings_Paediatric v0.2 MED13L Zornitza Stark gene: MED13L was added
gene: MED13L was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MED13L were set to Transposition of great arteries
Additional findings_Paediatric v0.2 MCEE Zornitza Stark gene: MCEE was added
gene: MCEE was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCEE were set to Methylmalonyl-CoA epimerase deficiency
Additional findings_Paediatric v0.2 MATN4 Zornitza Stark gene: MATN4 was added
gene: MATN4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MATN4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MATN4 were set to Multiple anomalies
Additional findings_Paediatric v0.2 MAT1A Zornitza Stark gene: MAT1A was added
gene: MAT1A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAT1A were set to Methionine adenosyltransferase deficiency
Additional findings_Paediatric v0.2 MAPT Zornitza Stark gene: MAPT was added
gene: MAPT was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAPT were set to Dementia, frontotemporal, with or without parkinsonism
Additional findings_Paediatric v0.2 MAPK10 Zornitza Stark gene: MAPK10 was added
gene: MAPK10 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MAPK10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAPK10 were set to Epileptic encephalopathy
Additional findings_Paediatric v0.2 LYZ Zornitza Stark gene: LYZ was added
gene: LYZ was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: LYZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LYZ were set to Amyloidosis, systemic
Additional findings_Paediatric v0.2 LUM Zornitza Stark gene: LUM was added
gene: LUM was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: LUM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LUM were set to Amyotrophic lateral sclerosis
Additional findings_Paediatric v0.2 LRRK2 Zornitza Stark gene: LRRK2 was added
gene: LRRK2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: LRRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LRRK2 were set to Parkinson disease
Additional findings_Paediatric v0.2 LPP Zornitza Stark gene: LPP was added
gene: LPP was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: LPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LPP were set to Tetralogy of Fallot
Additional findings_Paediatric v0.2 LPIN2 Zornitza Stark gene: LPIN2 was added
gene: LPIN2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPIN2 were set to Majeed syndrome
Additional findings_Paediatric v0.2 LMNB2 Zornitza Stark gene: LMNB2 was added
gene: LMNB2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMNB2 were set to Lipodystrophy, partial
Additional findings_Paediatric v0.2 LHB Zornitza Stark gene: LHB was added
gene: LHB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: LHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHB were set to Hypogonadism
Additional findings_Paediatric v0.2 LGI1 Zornitza Stark gene: LGI1 was added
gene: LGI1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: LGI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LGI1 were set to Epilepsy, familial temporal lobe, 1
Additional findings_Paediatric v0.2 LDB3 Zornitza Stark gene: LDB3 was added
gene: LDB3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LDB3 were set to Myofibrillar myopathy
Additional findings_Paediatric v0.2 LBR Zornitza Stark Source BabySeq Category C gene was added to LBR.
Source Expert Review Red was added to LBR.
Mode of inheritance for gene LBR was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Reynolds syndrome for gene: LBR
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to Perrault syndrome
Additional findings_Paediatric v0.2 LARS Zornitza Stark gene: LARS was added
gene: LARS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS were set to Infantile liver failure syndrome
Additional findings_Paediatric v0.2 LAMA4 Zornitza Stark gene: LAMA4 was added
gene: LAMA4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: LAMA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LAMA4 were set to Cardiomyopathy, dilated
Additional findings_Paediatric v0.2 KRT8 Zornitza Stark gene: KRT8 was added
gene: KRT8 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: KRT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT8 were set to Cirrhosis, cryptogenic
Additional findings_Paediatric v0.2 KRT6B Zornitza Stark gene: KRT6B was added
gene: KRT6B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: KRT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT6B were set to Pachyonychia congenita
Additional findings_Paediatric v0.2 KRT18 Zornitza Stark gene: KRT18 was added
gene: KRT18 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: KRT18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT18 were set to Cirrhosis, cryptogenic
Additional findings_Paediatric v0.2 KPTN Zornitza Stark gene: KPTN was added
gene: KPTN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KPTN were set to Macrocephaly, neurodevelopmental delay, and seizures
Additional findings_Paediatric v0.2 KLF1 Zornitza Stark gene: KLF1 was added
gene: KLF1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KLF1 were set to Anemia, dyserythropoietic congenital, type IV
Additional findings_Paediatric v0.2 KIF22 Zornitza Stark gene: KIF22 was added
gene: KIF22 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF22 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 2
Additional findings_Paediatric v0.2 KIF1B Zornitza Stark gene: KIF1B was added
gene: KIF1B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF1B were set to Charcot-Marie-Tooth disease
Additional findings_Paediatric v0.2 KIF1BP Zornitza Stark gene: KIF1BP was added
gene: KIF1BP was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1BP were set to Goldberg-Shprintzen megacolon syndrome
Additional findings_Paediatric v0.2 KDM5B Zornitza Stark gene: KDM5B was added
gene: KDM5B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: KDM5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KDM5B were set to Congenital heart disease
Additional findings_Paediatric v0.2 KCNQ3 Zornitza Stark gene: KCNQ3 was added
gene: KCNQ3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ3 were set to Epilepsy, benign neonatal
Additional findings_Paediatric v0.2 KCNQ2 Zornitza Stark gene: KCNQ2 was added
gene: KCNQ2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ2 were set to Epilepsy, benign neonatal
Additional findings_Paediatric v0.2 KCNQ1OT1 Zornitza Stark gene: KCNQ1OT1 was added
gene: KCNQ1OT1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: KCNQ1OT1 was set to Unknown
Phenotypes for gene: KCNQ1OT1 were set to Beckwith-Wiedemann syndrome
Additional findings_Paediatric v0.2 KCNJ8 Zornitza Stark gene: KCNJ8 was added
gene: KCNJ8 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ8 were set to Sudden infant death syndrom
Additional findings_Paediatric v0.2 KCNJ5 Zornitza Stark gene: KCNJ5 was added
gene: KCNJ5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ5 were set to Long QT syndrome
Additional findings_Paediatric v0.2 KCNJ18 Zornitza Stark gene: KCNJ18 was added
gene: KCNJ18 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: KCNJ18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ18 were set to Hypokalaemic periodic paralysis
Additional findings_Paediatric v0.2 KCNE3 Zornitza Stark gene: KCNE3 was added
gene: KCNE3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: KCNE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNE3 were set to Brugada syndrome
Additional findings_Paediatric v0.2 KCNE5 Zornitza Stark gene: KCNE5 was added
gene: KCNE5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: KCNE5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNE5 were set to Atrial fibrillation
Additional findings_Paediatric v0.2 KCND3 Zornitza Stark gene: KCND3 was added
gene: KCND3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCND3 were set to Brugada syndrome
Additional findings_Paediatric v0.2 KARS Zornitza Stark Added phenotypes Hearing loss for gene: KARS
Additional findings_Paediatric v0.2 KARS Zornitza Stark gene: KARS was added
gene: KARS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KARS were set to Charcot-Marie-Tooth disease, recessive intermediate
Additional findings_Paediatric v0.2 JPH2 Zornitza Stark gene: JPH2 was added
gene: JPH2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: JPH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: JPH2 were set to Cardiomyopathy, hypertrophic
Additional findings_Paediatric v0.2 IYD Zornitza Stark gene: IYD was added
gene: IYD was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: IYD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IYD were set to Thyroid dyshormonogenesis
Additional findings_Paediatric v0.2 ITGA7 Zornitza Stark gene: ITGA7 was added
gene: ITGA7 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA7 were set to Congenital muscular dystrophy with integrin deficiency
Additional findings_Paediatric v0.2 ITGA6 Zornitza Stark gene: ITGA6 was added
gene: ITGA6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis
Additional findings_Paediatric v0.2 ITGA3 Zornitza Stark gene: ITGA3 was added
gene: ITGA3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
Additional findings_Paediatric v0.2 ISL1 Zornitza Stark gene: ISL1 was added
gene: ISL1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ISL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ISL1 were set to Diabetes, type 2
Additional findings_Paediatric v0.2 ISCU Zornitza Stark gene: ISCU was added
gene: ISCU was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ISCU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ISCU were set to Myopathy with defiency of succinate dehydrogenase
Additional findings_Paediatric v0.2 IRS1 Zornitza Stark gene: IRS1 was added
gene: IRS1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: IRS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IRS1 were set to Diabetes mellitus, noninsulin dependent
Additional findings_Paediatric v0.2 IRF6 Zornitza Stark Source BabySeq Category C gene was added to IRF6.
Source Expert Review Red was added to IRF6.
Added phenotypes Popliteal pterygium syndrome for gene: IRF6
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 ILK Zornitza Stark gene: ILK was added
gene: ILK was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ILK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ILK were set to Cardiomyopathy, dilated
Additional findings_Paediatric v0.2 IL10RB Zornitza Stark gene: IL10RB was added
gene: IL10RB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: IL10RB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL10RB were set to Inflammatory bowel disease
Additional findings_Paediatric v0.2 IGF1 Zornitza Stark gene: IGF1 was added
gene: IGF1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGF1 were set to Insulin-like growth factor deficiency
Additional findings_Paediatric v0.2 IGBP1 Zornitza Stark gene: IGBP1 was added
gene: IGBP1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: IGBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IGBP1 were set to Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Additional findings_Paediatric v0.2 IFT80 Zornitza Stark gene: IFT80 was added
gene: IFT80 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT80 were set to Asphyxiating thoracic dystrophy 2
Additional findings_Paediatric v0.2 IFT43 Zornitza Stark gene: IFT43 was added
gene: IFT43 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT43 were set to Cranioectodermal dysplasia
Additional findings_Paediatric v0.2 IFT122 Zornitza Stark gene: IFT122 was added
gene: IFT122 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia
Additional findings_Paediatric v0.2 HYLS1 Zornitza Stark gene: HYLS1 was added
gene: HYLS1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYLS1 were set to Hydrolethalus syndrome
Additional findings_Paediatric v0.2 HYDIN Zornitza Stark gene: HYDIN was added
gene: HYDIN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYDIN were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.2 HPS6 Zornitza Stark gene: HPS6 was added
gene: HPS6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6
Additional findings_Paediatric v0.2 HPD Zornitza Stark gene: HPD was added
gene: HPD was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPD were set to Tyrosinemia, type III
Additional findings_Paediatric v0.2 HOXA1 Zornitza Stark gene: HOXA1 was added
gene: HOXA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXA1 were set to Athabaskan brainstem dysgenesis syndrome
Additional findings_Paediatric v0.2 HOMEZ Zornitza Stark gene: HOMEZ was added
gene: HOMEZ was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HOMEZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HOMEZ were set to Congenital heart disease
Additional findings_Paediatric v0.2 HNF4A Zornitza Stark gene: HNF4A was added
gene: HNF4A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF4A were set to Hypoglycaemia, hyperinsulinaemic
Additional findings_Paediatric v0.2 HNF1B Zornitza Stark gene: HNF1B was added
gene: HNF1B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome
Additional findings_Paediatric v0.2 HMBS Zornitza Stark gene: HMBS was added
gene: HMBS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HMBS were set to Porphyria, acute intermittent
Additional findings_Paediatric v0.2 HK1 Zornitza Stark gene: HK1 was added
gene: HK1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HK1 were set to Hemolytic anemia due to hexokinase deficiency
Additional findings_Paediatric v0.2 HIBCH Zornitza Stark gene: HIBCH was added
gene: HIBCH was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIBCH were set to Neurodegeneration, progressive infantile
Additional findings_Paediatric v0.2 HGF Zornitza Stark gene: HGF was added
gene: HGF was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HGF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGF were set to Deafness, autosomal recessive
Additional findings_Paediatric v0.2 HFE2 Zornitza Stark gene: HFE2 was added
gene: HFE2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE2 were set to Haemochromatosis
Additional findings_Paediatric v0.2 HFE Zornitza Stark gene: HFE was added
gene: HFE was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE were set to Hemochromatosis
Additional findings_Paediatric v0.2 HESX1 Zornitza Stark gene: HESX1 was added
gene: HESX1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HESX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HESX1 were set to Pituitary hypoplasia
Additional findings_Paediatric v0.2 HERC2 Zornitza Stark gene: HERC2 was added
gene: HERC2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HERC2 were set to Autism spectrum disorder
Additional findings_Paediatric v0.2 DNAAF5 Zornitza Stark gene: DNAAF5 was added
gene: DNAAF5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF5 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.2 HCN4 Zornitza Stark gene: HCN4 was added
gene: HCN4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HCN4 were set to Brugada syndrome
Additional findings_Paediatric v0.2 HCCS Zornitza Stark gene: HCCS was added
gene: HCCS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HCCS were set to Microphthalmia
Additional findings_Paediatric v0.2 HAS2 Zornitza Stark gene: HAS2 was added
gene: HAS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HAS2 were set to Congenital heart disease
Additional findings_Paediatric v0.2 HARS2 Zornitza Stark gene: HARS2 was added
gene: HARS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS2 were set to Perrault syndrome
Additional findings_Paediatric v0.2 HARS Zornitza Stark gene: HARS was added
gene: HARS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS were set to Usher syndrome type 3B
Additional findings_Paediatric v0.2 HAMP Zornitza Stark gene: HAMP was added
gene: HAMP was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAMP were set to Haemochromatosis
Additional findings_Paediatric v0.2 HADH Zornitza Stark Source BabySeq Category C gene was added to HADH.
Source Expert Review Red was added to HADH.
Added phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency for gene: HADH
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 GYG1 Zornitza Stark gene: GYG1 was added
gene: GYG1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GYG1 were set to Glycogen storage disease XV
Additional findings_Paediatric v0.2 GUCY2C Zornitza Stark gene: GUCY2C was added
gene: GUCY2C was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GUCY2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2C were set to Meconium ileus
Additional findings_Paediatric v0.2 GTF2H5 Zornitza Stark gene: GTF2H5 was added
gene: GTF2H5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy
Additional findings_Paediatric v0.2 GRXCR1 Zornitza Stark gene: GRXCR1 was added
gene: GRXCR1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GRXCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRXCR1 were set to Deafness, autosomal recessive
Additional findings_Paediatric v0.2 GRIN2A Zornitza Stark gene: GRIN2A was added
gene: GRIN2A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GRIN2A were set to Epilepsy with neurodevelopmental defects
Additional findings_Paediatric v0.2 GRHL2 Zornitza Stark gene: GRHL2 was added
gene: GRHL2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GRHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GRHL2 were set to Hearing loss
Additional findings_Paediatric v0.2 GPX1 Zornitza Stark gene: GPX1 was added
gene: GPX1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GPX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPX1 were set to Hemolytic anemia due to glutathione peroxidase deficiency
Additional findings_Paediatric v0.2 GPHN Zornitza Stark gene: GPHN was added
gene: GPHN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPHN were set to Hyperekplexia
Additional findings_Paediatric v0.2 GPC6 Zornitza Stark gene: GPC6 was added
gene: GPC6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPC6 were set to Omodysplasia
Additional findings_Paediatric v0.2 GPC4 Zornitza Stark gene: GPC4 was added
gene: GPC4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GPC4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC4 were set to Simpson-Golabi-Behmel syndrome
Additional findings_Paediatric v0.2 GMPPA Zornitza Stark gene: GMPPA was added
gene: GMPPA was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPA were set to Congenital disorder of glycosylation
Additional findings_Paediatric v0.2 GLUL Zornitza Stark gene: GLUL was added
gene: GLUL was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLUL were set to Congenital brain dysgenesis due to glutamine synthetase deficiency
Additional findings_Paediatric v0.2 GLRB Zornitza Stark gene: GLRB was added
gene: GLRB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLRB were set to Hyperekplexia 2, autosomal recessive
Additional findings_Paediatric v0.2 GLIS3 Zornitza Stark gene: GLIS3 was added
gene: GLIS3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS3 were set to Diabetes mellitus, neonatal, with congenital hypothyroidism
Additional findings_Paediatric v0.2 GLI2 Zornitza Stark gene: GLI2 was added
gene: GLI2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLI2 were set to Holoprosencephaly-9
Additional findings_Paediatric v0.2 GLE1 Zornitza Stark gene: GLE1 was added
gene: GLE1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLE1 were set to Lethal arthrogryposis with anterior horn cell disease
Additional findings_Paediatric v0.2 GFER Zornitza Stark gene: GFER was added
gene: GFER was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
Additional findings_Paediatric v0.2 GDNF Zornitza Stark Added phenotypes Central hypoventilation syndrome for gene: GDNF
Additional findings_Paediatric v0.2 GDNF Zornitza Stark gene: GDNF was added
gene: GDNF was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GDNF were set to Hirschsprung disease
Additional findings_Paediatric v0.2 GDF1 Zornitza Stark gene: GDF1 was added
gene: GDF1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GDF1 were set to Congenital heart defects
Additional findings_Paediatric v0.2 GCSH Zornitza Stark gene: GCSH was added
gene: GCSH was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCSH were set to Glycine encephalopathy
Additional findings_Paediatric v0.2 GCLC Zornitza Stark gene: GCLC was added
gene: GCLC was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCLC were set to Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
Additional findings_Paediatric v0.2 GBE1 Zornitza Stark Source BabySeq Category C gene was added to GBE1.
Source Expert Review Red was added to GBE1.
Added phenotypes Polyglucosan body disease, adult form for gene: GBE1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 GATAD1 Zornitza Stark gene: GATAD1 was added
gene: GATAD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GATAD1 were set to Cardiomyopathy, dilated, 2B
Additional findings_Paediatric v0.2 GATA6 Zornitza Stark gene: GATA6 was added
gene: GATA6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GATA6 were set to Atrial fibrillation
Additional findings_Paediatric v0.2 GATA5 Zornitza Stark gene: GATA5 was added
gene: GATA5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GATA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GATA5 were set to Familial atrial fibrillation
Additional findings_Paediatric v0.2 GATA1 Zornitza Stark Source BabySeq Category C gene was added to GATA1.
Source Expert Review Red was added to GATA1.
Added phenotypes Porphyria, congenital erythropoietic for gene: GATA1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 GABRG2 Zornitza Stark gene: GABRG2 was added
gene: GABRG2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GABRG2 were set to Epilepsy, childhood absence with febrile seizure
Additional findings_Paediatric v0.2 GABRA1 Zornitza Stark gene: GABRA1 was added
gene: GABRA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GABRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GABRA1 were set to Epilepsy, idiopathic generalised
Additional findings_Paediatric v0.2 FTCD Zornitza Stark gene: FTCD was added
gene: FTCD was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency
Additional findings_Paediatric v0.2 FSCN2 Zornitza Stark gene: FSCN2 was added
gene: FSCN2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: FSCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FSCN2 were set to Retinitis pigmentosa
Additional findings_Paediatric v0.2 FREM2 Zornitza Stark gene: FREM2 was added
gene: FREM2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM2 were set to Fraser syndrome
Additional findings_Paediatric v0.2 FREM1 Zornitza Stark gene: FREM1 was added
gene: FREM1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM1 were set to Manitoba oculotrichoanal syndrome
Additional findings_Paediatric v0.2 FOXN1 Zornitza Stark gene: FOXN1 was added
gene: FOXN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXN1 were set to Congenital alopecia with T-cell immunodeficiency
Additional findings_Paediatric v0.2 FOXH1 Zornitza Stark gene: FOXH1 was added
gene: FOXH1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: FOXH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXH1 were set to Congenital heart defects
Additional findings_Paediatric v0.2 FOXF2 Zornitza Stark gene: FOXF2 was added
gene: FOXF2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: FOXF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXF2 were set to Disorders of sex development with cleft palate
Additional findings_Paediatric v0.2 FOXE1 Zornitza Stark gene: FOXE1 was added
gene: FOXE1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXE1 were set to Bamforth-Lazarus syndrome
Additional findings_Paediatric v0.2 FMO3 Zornitza Stark gene: FMO3 was added
gene: FMO3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: FMO3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FMO3 were set to Trimethylaminuria
Additional findings_Paediatric v0.2 FLNC Zornitza Stark gene: FLNC was added
gene: FLNC was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FLNC were set to Myofibrillar myopathy
Additional findings_Paediatric v0.2 FLG Zornitza Stark gene: FLG was added
gene: FLG was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: FLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FLG were set to Ichthyosis vulgaris
Additional findings_Paediatric v0.2 FKBPL Zornitza Stark gene: FKBPL was added
gene: FKBPL was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: FKBPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FKBPL were set to Infertility
Additional findings_Paediatric v0.2 FHL2 Zornitza Stark gene: FHL2 was added
gene: FHL2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: FHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FHL2 were set to Cardiomyopathy, hypertrophic
Additional findings_Paediatric v0.2 FHL1 Zornitza Stark Source BabySeq Category C gene was added to FHL1.
Source Expert Review Red was added to FHL1.
Added phenotypes Myofibrillar myopathy for gene: FHL1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 FH Zornitza Stark Source BabySeq Category C gene was added to FH.
Source Expert Review Red was added to FH.
Mode of inheritance for gene FH was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Leiomyomatosis and renal cell cancer for gene: FH
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 FGFR3 Zornitza Stark Added phenotypes LADD syndrome for gene: FGFR3
Additional findings_Paediatric v0.2 FGFR3 Zornitza Stark Source BabySeq Category C gene was added to FGFR3.
Source Expert Review Red was added to FGFR3.
Added phenotypes CATSHL syndrome for gene: FGFR3
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 FBN1 Zornitza Stark Added phenotypes Shprintzen-Goldberg syndrome for gene: FBN1
Additional findings_Paediatric v0.2 FBN1 Zornitza Stark Source BabySeq Category C gene was added to FBN1.
Source Expert Review Red was added to FBN1.
Added phenotypes Weill-Marchesani syndrome 2, dominant for gene: FBN1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 FBLN5 Zornitza Stark Source BabySeq Category C gene was added to FBLN5.
Source Expert Review Red was added to FBLN5.
Mode of inheritance for gene FBLN5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Age-related macular degeneration for gene: FBLN5
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 FANCM Zornitza Stark gene: FANCM was added
gene: FANCM was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCM were set to Fanconi anaemia
Additional findings_Paediatric v0.2 FANCL Zornitza Stark gene: FANCL was added
gene: FANCL was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCL were set to Fanconi anaemia
Additional findings_Paediatric v0.2 FANCF Zornitza Stark gene: FANCF was added
gene: FANCF was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCF were set to Fanconi anaemia
Additional findings_Paediatric v0.2 FANCE Zornitza Stark gene: FANCE was added
gene: FANCE was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCE were set to Fanconi anaemia
Additional findings_Paediatric v0.2 RETREG1 Zornitza Stark gene: RETREG1 was added
gene: RETREG1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RETREG1 were set to Neuropathy, hereditary sensory and autonomic, type IIB
Additional findings_Paediatric v0.2 FAM111B Zornitza Stark gene: FAM111B was added
gene: FAM111B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FAM111B were set to Hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis
Additional findings_Paediatric v0.2 FAAH2 Zornitza Stark gene: FAAH2 was added
gene: FAAH2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: FAAH2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FAAH2 were set to Autism spectrum disorder
Additional findings_Paediatric v0.2 F5 Zornitza Stark gene: F5 was added
gene: F5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: F5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F5 were set to Risk for deep vein thrombosis
Additional findings_Paediatric v0.2 ESPN Zornitza Stark gene: ESPN was added
gene: ESPN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ESPN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESPN were set to Hearing loss
Additional findings_Paediatric v0.2 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC4 were set to Xeroderma pigmentosum
Additional findings_Paediatric v0.2 ERCC3 Zornitza Stark gene: ERCC3 was added
gene: ERCC3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC3 were set to Xeroderma pigmentosum
Additional findings_Paediatric v0.2 ERCC1 Zornitza Stark gene: ERCC1 was added
gene: ERCC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC1 were set to Xeroderma pigmentosum
Additional findings_Paediatric v0.2 ERBB3 Zornitza Stark gene: ERBB3 was added
gene: ERBB3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2
Additional findings_Paediatric v0.2 EPHX1 Zornitza Stark gene: EPHX1 was added
gene: EPHX1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: EPHX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPHX1 were set to Hypercholanemia, familial
Additional findings_Paediatric v0.2 EPCAM Zornitza Stark gene: EPCAM was added
gene: EPCAM was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: EPCAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EPCAM were set to Lynch syndrome
Additional findings_Paediatric v0.2 EPB42 Zornitza Stark gene: EPB42 was added
gene: EPB42 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: EPB42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EPB42 were set to Spherocytosis
Additional findings_Paediatric v0.2 EIF2B1 Zornitza Stark gene: EIF2B1 was added
gene: EIF2B1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter
Additional findings_Paediatric v0.2 EFEMP2 Zornitza Stark gene: EFEMP2 was added
gene: EFEMP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB
Additional findings_Paediatric v0.2 EDNRB Zornitza Stark Added phenotypes Waardenburg syndrome for gene: EDNRB
Additional findings_Paediatric v0.2 EDNRB Zornitza Stark gene: EDNRB was added
gene: EDNRB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: EDNRB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EDNRB were set to Hirschsprung disease
Additional findings_Paediatric v0.2 EDN3 Zornitza Stark Added phenotypes Waardenburg syndrome for gene: EDN3
Additional findings_Paediatric v0.2 EDN3 Zornitza Stark gene: EDN3 was added
gene: EDN3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: EDN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EDN3 were set to Hirschsprung disease
Additional findings_Paediatric v0.2 ECE1 Zornitza Stark gene: ECE1 was added
gene: ECE1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ECE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ECE1 were set to Hirschsprung disease
Additional findings_Paediatric v0.2 DUOXA2 Zornitza Stark gene: DUOXA2 was added
gene: DUOXA2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DUOXA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DUOXA2 were set to Thyroid dyshormonogenesis
Additional findings_Paediatric v0.2 DTNBP1 Zornitza Stark gene: DTNBP1 was added
gene: DTNBP1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DTNBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DTNBP1 were set to Hermansky-Pudlak syndrome 7
Additional findings_Paediatric v0.2 DTNA Zornitza Stark gene: DTNA was added
gene: DTNA was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DTNA were set to Left ventricular noncompaction 1
Additional findings_Paediatric v0.2 DTHD1 Zornitza Stark gene: DTHD1 was added
gene: DTHD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DTHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DTHD1 were set to Leber congenital amaurosis with myopathy
Additional findings_Paediatric v0.2 DPYD Zornitza Stark gene: DPYD was added
gene: DPYD was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency
Additional findings_Paediatric v0.2 DPP6 Zornitza Stark gene: DPP6 was added
gene: DPP6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DPP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DPP6 were set to Ventricular fibrillation, paroxysmal familial, 2
Additional findings_Paediatric v0.2 DPM1 Zornitza Stark gene: DPM1 was added
gene: DPM1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPM1 were set to Congenital disorder of glycosylation, type Ie
Additional findings_Paediatric v0.2 DOLK Zornitza Stark gene: DOLK was added
gene: DOLK was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im
Additional findings_Paediatric v0.2 DNAL1 Zornitza Stark gene: DNAL1 was added
gene: DNAL1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DNAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAL1 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.2 DNAJC5 Zornitza Stark gene: DNAJC5 was added
gene: DNAJC5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNAJC5 were set to Neuronal ceroid lipofuscinosis, adult-onset
Additional findings_Paediatric v0.2 DNAJC19 Zornitza Stark gene: DNAJC19 was added
gene: DNAJC19 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V
Additional findings_Paediatric v0.2 DNAI2 Zornitza Stark gene: DNAI2 was added
gene: DNAI2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI2 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.2 DNAAF3 Zornitza Stark gene: DNAAF3 was added
gene: DNAAF3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF3 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.2 DNAAF2 Zornitza Stark gene: DNAAF2 was added
gene: DNAAF2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DNAAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF2 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.2 DLC1 Zornitza Stark gene: DLC1 was added
gene: DLC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DLC1 were set to Congenital heart disease
Additional findings_Paediatric v0.2 DIAPH1 Zornitza Stark gene: DIAPH1 was added
gene: DIAPH1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DIAPH1 were set to Hearing loss
Additional findings_Paediatric v0.2 DIABLO Zornitza Stark gene: DIABLO was added
gene: DIABLO was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DIABLO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DIABLO were set to Deafness, autosomal dominant
Additional findings_Paediatric v0.2 DHCR24 Zornitza Stark gene: DHCR24 was added
gene: DHCR24 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR24 were set to Desmosterolosis
Additional findings_Paediatric v0.2 DGKE Zornitza Stark gene: DGKE was added
gene: DGKE was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DGKE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGKE were set to Haemolytic uraemic syndrome, atypical
Additional findings_Paediatric v0.2 WHRN Zornitza Stark gene: WHRN was added
gene: WHRN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WHRN were set to Hearing loss
Additional findings_Paediatric v0.2 DECR1 Zornitza Stark gene: DECR1 was added
gene: DECR1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DECR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DECR1 were set to 2,4-Dienoyl-CoA reductase deficiency
Additional findings_Paediatric v0.2 DDR2 Zornitza Stark gene: DDR2 was added
gene: DDR2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDR2 were set to Spondylometaepiphyseal dysplasia, short limb-hand type
Additional findings_Paediatric v0.2 DDOST Zornitza Stark gene: DDOST was added
gene: DDOST was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DDOST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDOST were set to Congenital disorder of glycosylation, type Ir
Additional findings_Paediatric v0.2 DDHD1 Zornitza Stark gene: DDHD1 was added
gene: DDHD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD1 were set to Spastic paraplegia
Additional findings_Paediatric v0.2 DCX Zornitza Stark Source BabySeq Category C gene was added to DCX.
Source Expert Review Red was added to DCX.
Added phenotypes Lennox-Gastaut syndrome for gene: DCX
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 DCTN1 Zornitza Stark gene: DCTN1 was added
gene: DCTN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DCTN1 were set to Amyotrophic lateral sclerosis
Additional findings_Paediatric v0.2 DBH Zornitza Stark gene: DBH was added
gene: DBH was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DBH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DBH were set to Dopamine beta-hydroxylase deficiency
Additional findings_Paediatric v0.2 DAPK3 Zornitza Stark gene: DAPK3 was added
gene: DAPK3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DAPK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DAPK3 were set to Congenital heart disease
Additional findings_Paediatric v0.2 DAG1 Zornitza Stark gene: DAG1 was added
gene: DAG1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DAG1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9
Additional findings_Paediatric v0.2 CYP7B1 Zornitza Stark gene: CYP7B1 was added
gene: CYP7B1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP7B1 were set to Cholestasis, severe
Additional findings_Paediatric v0.2 CYP7A1 Zornitza Stark gene: CYP7A1 was added
gene: CYP7A1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CYP7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP7A1 were set to Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Additional findings_Paediatric v0.2 CYCS Zornitza Stark gene: CYCS was added
gene: CYCS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CYCS were set to Thrombocytopenia 4
Additional findings_Paediatric v0.2 CTF1 Zornitza Stark gene: CTF1 was added
gene: CTF1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CTF1 was set to Unknown
Phenotypes for gene: CTF1 were set to Cardiomyopathy, dilated
Additional findings_Paediatric v0.2 CTDP1 Zornitza Stark gene: CTDP1 was added
gene: CTDP1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTDP1 were set to Congenital cataracts - facial dysmorphism - neuropathy
Additional findings_Paediatric v0.2 CSTA Zornitza Stark gene: CSTA was added
gene: CSTA was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTA were set to Exfoliative ichthyosis
Additional findings_Paediatric v0.2 CSRP3 Zornitza Stark Source BabySeq Category C gene was added to CSRP3.
Source Expert Review Red was added to CSRP3.
Added phenotypes Cardiomyopathy, dilated, 1M for gene: CSRP3
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 CSF2RB Zornitza Stark gene: CSF2RB was added
gene: CSF2RB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CSF2RB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSF2RB were set to Pulmonary alveolar proteinosis
Additional findings_Paediatric v0.2 CSF1R Zornitza Stark gene: CSF1R was added
gene: CSF1R was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CSF1R were set to Leukoencephalopathy, diffuse hereditary, with spheroids
Additional findings_Paediatric v0.2 CRELD1 Zornitza Stark gene: CRELD1 was added
gene: CRELD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CRELD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRELD1 were set to Cardiac atrioventricular septal defect
Additional findings_Paediatric v0.2 CR2 Zornitza Stark gene: CR2 was added
gene: CR2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CR2 were set to Hypogammaglobulinaemia
Additional findings_Paediatric v0.2 CPZ Zornitza Stark gene: CPZ was added
gene: CPZ was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CPZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CPZ were set to Autism
Additional findings_Paediatric v0.2 CPOX Zornitza Stark gene: CPOX was added
gene: CPOX was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CPOX were set to Coproporphyria
Additional findings_Paediatric v0.2 COX4I2 Zornitza Stark gene: COX4I2 was added
gene: COX4I2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX4I2 were set to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
Additional findings_Paediatric v0.2 COQ6 Zornitza Stark gene: COQ6 was added
gene: COQ6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ6 were set to Nephrotic syndrome with sensorineural deafness
Additional findings_Paediatric v0.2 COQ2 Zornitza Stark gene: COQ2 was added
gene: COQ2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1
Additional findings_Paediatric v0.2 COL9A2 Zornitza Stark gene: COL9A2 was added
gene: COL9A2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: COL9A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL9A2 were set to Stickler syndrome
Additional findings_Paediatric v0.2 COL9A1 Zornitza Stark gene: COL9A1 was added
gene: COL9A1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL9A1 were set to Stickler syndrome
Additional findings_Paediatric v0.2 COL1A1 Zornitza Stark Source BabySeq Category C gene was added to COL1A1.
Source Expert Review Red was added to COL1A1.
Added phenotypes Caffey disease for gene: COL1A1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 COG7 Zornitza Stark gene: COG7 was added
gene: COG7 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG7 were set to Congenital disorder of glycosylation, type IIe
Additional findings_Paediatric v0.2 COG5 Zornitza Stark gene: COG5 was added
gene: COG5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi
Additional findings_Paediatric v0.2 COG4 Zornitza Stark gene: COG4 was added
gene: COG4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG4 were set to Congenital disorder of glycosylation, type IIj
Additional findings_Paediatric v0.2 CNTNAP2 Zornitza Stark gene: CNTNAP2 was added
gene: CNTNAP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CNTNAP2 was set to Unknown
Phenotypes for gene: CNTNAP2 were set to Autism spectrum disorder
Additional findings_Paediatric v0.2 CLPP Zornitza Stark gene: CLPP was added
gene: CLPP was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPP were set to Perrault syndrome
Additional findings_Paediatric v0.2 CLMP Zornitza Stark gene: CLMP was added
gene: CLMP was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLMP were set to Congenital short-bowel syndrome
Additional findings_Paediatric v0.2 CLDN1 Zornitza Stark gene: CLDN1 was added
gene: CLDN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
Additional findings_Paediatric v0.2 CLCN7 Zornitza Stark gene: CLCN7 was added
gene: CLCN7 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CLCN7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CLCN7 were set to Osteopetrosis
Additional findings_Paediatric v0.2 CLCN1 Zornitza Stark gene: CLCN1 was added
gene: CLCN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CLCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CLCN1 were set to Myotonia congenita
Additional findings_Paediatric v0.2 CITED2 Zornitza Stark gene: CITED2 was added
gene: CITED2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CITED2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CITED2 were set to Congenital heart defects
Additional findings_Paediatric v0.2 CISD2 Zornitza Stark gene: CISD2 was added
gene: CISD2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CISD2 were set to Wolfram syndrome
Additional findings_Paediatric v0.2 UTP4 Zornitza Stark gene: UTP4 was added
gene: UTP4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: UTP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UTP4 were set to North American Indian childhood cirrhosis
Additional findings_Paediatric v0.2 CHSY1 Zornitza Stark gene: CHSY1 was added
gene: CHSY1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome
Additional findings_Paediatric v0.2 CHST3 Zornitza Stark gene: CHST3 was added
gene: CHST3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST3 were set to Larsen syndrome
Additional findings_Paediatric v0.2 CHRNB1 Zornitza Stark gene: CHRNB1 was added
gene: CHRNB1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CHRNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNB1 were set to Congenital myasthenic syndrome
Additional findings_Paediatric v0.2 CHRNA2 Zornitza Stark gene: CHRNA2 was added
gene: CHRNA2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CHRNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHRNA2 were set to Epilepsy
Additional findings_Paediatric v0.2 CHRM2 Zornitza Stark gene: CHRM2 was added
gene: CHRM2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CHRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHRM2 were set to Cardiomyopathy, dilated
Additional findings_Paediatric v0.2 CHEK2 Zornitza Stark gene: CHEK2 was added
gene: CHEK2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CHEK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHEK2 were set to Breast cancer, susceptibility to
Additional findings_Paediatric v0.2 CFI Zornitza Stark gene: CFI was added
gene: CFI was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CFI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFI were set to Haemolytic uraemic syndrome
Additional findings_Paediatric v0.2 CFHR5 Zornitza Stark gene: CFHR5 was added
gene: CFHR5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CFHR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CFHR5 were set to Haemolytic uraemic syndrome
Additional findings_Paediatric v0.2 CFHR4 Zornitza Stark gene: CFHR4 was added
gene: CFHR4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CFHR4 was set to Unknown
Phenotypes for gene: CFHR4 were set to Hemolytic-uremic syndrome, atypical, susceptibility to
Additional findings_Paediatric v0.2 CFHR3 Zornitza Stark gene: CFHR3 was added
gene: CFHR3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CFHR3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFHR3 were set to Haemolytic uraemic syndrome
Additional findings_Paediatric v0.2 CFHR1 Zornitza Stark gene: CFHR1 was added
gene: CFHR1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CFHR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFHR1 were set to Haemolytic uraemic syndrome
Additional findings_Paediatric v0.2 CFH Zornitza Stark gene: CFH was added
gene: CFH was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CFH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFH were set to Haemolytic uraemic syndrome
Additional findings_Paediatric v0.2 CFD Zornitza Stark gene: CFD was added
gene: CFD was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFD were set to Complement factor D deficiency
Additional findings_Paediatric v0.2 CFB Zornitza Stark gene: CFB was added
gene: CFB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CFB were set to Haemolytic uraemic syndrome
Additional findings_Paediatric v0.2 CEP41 Zornitza Stark gene: CEP41 was added
gene: CEP41 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP41 were set to Joubert syndrome
Additional findings_Paediatric v0.2 CENPJ Zornitza Stark gene: CENPJ was added
gene: CENPJ was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CENPJ were set to Primary microcephaly
Additional findings_Paediatric v0.2 CEACAM16 Zornitza Stark gene: CEACAM16 was added
gene: CEACAM16 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CEACAM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CEACAM16 were set to Hearing loss, autosomal dominant
Additional findings_Paediatric v0.2 CDT1 Zornitza Stark gene: CDT1 was added
gene: CDT1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDT1 were set to Meier-Gorlin syndrome
Additional findings_Paediatric v0.2 CDON Zornitza Stark gene: CDON was added
gene: CDON was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDON were set to Holoprosencephaly
Additional findings_Paediatric v0.2 CDK5RAP2 Zornitza Stark gene: CDK5RAP2 was added
gene: CDK5RAP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive
Additional findings_Paediatric v0.2 CDH1 Zornitza Stark Source BabySeq Category C gene was added to CDH1.
Source Expert Review Red was added to CDH1.
Added phenotypes Orofacial clefts for gene: CDH1
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 CD96 Zornitza Stark gene: CD96 was added
gene: CD96 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CD96 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD96 were set to C syndrome
Additional findings_Paediatric v0.2 CD46 Zornitza Stark gene: CD46 was added
gene: CD46 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CD46 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD46 were set to Haemolytic uraemic syndrome
Additional findings_Paediatric v0.2 CD36 Zornitza Stark gene: CD36 was added
gene: CD36 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CD36 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD36 were set to Platelet glycoprotein IV deficiency
Additional findings_Paediatric v0.2 CD2AP Zornitza Stark gene: CD2AP was added
gene: CD2AP was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CD2AP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD2AP were set to Glomerulosclerosis, focal segmental, 3
Additional findings_Paediatric v0.2 CCDC88C Zornitza Stark gene: CCDC88C was added
gene: CCDC88C was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC88C were set to Hydrocephalus
Additional findings_Paediatric v0.2 CCDC78 Zornitza Stark gene: CCDC78 was added
gene: CCDC78 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CCDC78 were set to Congenital myopathy with prominent internal nuclei and atypical cores
Additional findings_Paediatric v0.2 CCDC50 Zornitza Stark gene: CCDC50 was added
gene: CCDC50 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CCDC50 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC50 were set to Hearing loss
Additional findings_Paediatric v0.2 CCDC103 Zornitza Stark gene: CCDC103 was added
gene: CCDC103 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC103 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.2 CAV3 Zornitza Stark Mode of inheritance for gene CAV3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Rippling muscle disease for gene: CAV3
Additional findings_Paediatric v0.2 CAV3 Zornitza Stark Added phenotypes Long QT syndrome-9 for gene: CAV3
Additional findings_Paediatric v0.2 CAV3 Zornitza Stark Source BabySeq Category C gene was added to CAV3.
Source Expert Review Red was added to CAV3.
Added phenotypes Cardiomyopathy, familial hypertrophic for gene: CAV3
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 CASP10 Zornitza Stark gene: CASP10 was added
gene: CASP10 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CASP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CASP10 were set to Autoimmune lymphoproliferative syndrome II
Additional findings_Paediatric v0.2 CARS2 Zornitza Stark gene: CARS2 was added
gene: CARS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CARS2 were set to Epileptic encephalopathy
Additional findings_Paediatric v0.2 CACNB2 Zornitza Stark gene: CACNB2 was added
gene: CACNB2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CACNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNB2 were set to Brugada syndrome
Additional findings_Paediatric v0.2 CACNA2D1 Zornitza Stark gene: CACNA2D1 was added
gene: CACNA2D1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CACNA2D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA2D1 were set to Brugada syndrome
Additional findings_Paediatric v0.2 CACNA1S Zornitza Stark gene: CACNA1S was added
gene: CACNA1S was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1S were set to Malignant hyperthermia
Additional findings_Paediatric v0.2 CACNA1D Zornitza Stark gene: CACNA1D was added
gene: CACNA1D was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CACNA1D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CACNA1D were set to Sinoatrial node dysfunction and deafness
Additional findings_Paediatric v0.2 C3 Zornitza Stark gene: C3 was added
gene: C3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: C3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C3 were set to Haemolytic uraemic syndrome
Additional findings_Paediatric v0.2 BVES Zornitza Stark gene: BVES was added
gene: BVES was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: BVES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BVES were set to Congenital heart disease
Additional findings_Paediatric v0.2 BSCL2 Zornitza Stark Source BabySeq Category C gene was added to BSCL2.
Source Expert Review Red was added to BSCL2.
Mode of inheritance for gene BSCL2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Silver spastic paraplegia syndrome for gene: BSCL2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 BRCA2 Zornitza Stark Source BabySeq Category C gene was added to BRCA2.
Source Expert Review Red was added to BRCA2.
Mode of inheritance for gene BRCA2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Breast-ovarian cancer, familial, 2 for gene: BRCA2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 BRCA1 Zornitza Stark gene: BRCA1 was added
gene: BRCA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRCA1 were set to Breast-ovarian cancer, familial, 1
Additional findings_Paediatric v0.2 BRAF Zornitza Stark Source BabySeq Category C gene was added to BRAF.
Source Expert Review Red was added to BRAF.
Added phenotypes LEOPARD syndrome for gene: BRAF
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 BPGM Zornitza Stark gene: BPGM was added
gene: BPGM was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: BPGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BPGM were set to Erythrocytosis due to bisphosphoglycerate mutase deficiency
Additional findings_Paediatric v0.2 BNC2 Zornitza Stark gene: BNC2 was added
gene: BNC2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BNC2 were set to Total anomalous pulmonary venous return
Additional findings_Paediatric v0.2 BMPR1A Zornitza Stark Source BabySeq Category C gene was added to BMPR1A.
Source Expert Review Red was added to BMPR1A.
Added phenotypes Tetralogy of Fallot for gene: BMPR1A
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 BLOC1S6 Zornitza Stark gene: BLOC1S6 was added
gene: BLOC1S6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLOC1S6 were set to Hermansky-pudlak syndrome 9
Additional findings_Paediatric v0.2 BLOC1S3 Zornitza Stark gene: BLOC1S3 was added
gene: BLOC1S3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: BLOC1S3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLOC1S3 were set to Hermansky-Pudlak syndrome 8
Additional findings_Paediatric v0.2 BDNF Zornitza Stark gene: BDNF was added
gene: BDNF was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: BDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BDNF were set to Central hypoventilation syndrome
Additional findings_Paediatric v0.2 BCL9 Zornitza Stark gene: BCL9 was added
gene: BCL9 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: BCL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BCL9 were set to Congenital heart disease
Additional findings_Paediatric v0.2 BARD1 Zornitza Stark gene: BARD1 was added
gene: BARD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: BARD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BARD1 were set to Tetralogy of Fallot
Additional findings_Paediatric v0.2 BANF1 Zornitza Stark gene: BANF1 was added
gene: BANF1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BANF1 were set to Progeroid syndrome
Additional findings_Paediatric v0.2 BAG3 Zornitza Stark Source BabySeq Category C gene was added to BAG3.
Source Expert Review Red was added to BAG3.
Added phenotypes Myopathy, myofibrillar for gene: BAG3
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 B9D2 Zornitza Stark gene: B9D2 was added
gene: B9D2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B9D2 were set to Meckel syndrome
Additional findings_Paediatric v0.2 B4GALT1 Zornitza Stark gene: B4GALT1 was added
gene: B4GALT1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: B4GALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALT1 were set to CDG syndrome type IId
Additional findings_Paediatric v0.2 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
Additional findings_Paediatric v0.2 AXL Zornitza Stark gene: AXL was added
gene: AXL was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: AXL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AXL were set to Hypogonadotropic hypogonadism
Additional findings_Paediatric v0.2 ATR Zornitza Stark gene: ATR was added
gene: ATR was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATR were set to Seckel syndrome
Additional findings_Paediatric v0.2 ATP7A Zornitza Stark Source BabySeq Category C gene was added to ATP7A.
Source Expert Review Red was added to ATP7A.
Added phenotypes Spinal muscular atrophy, distal, X-linked 3 for gene: ATP7A
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 ATP6AP2 Zornitza Stark gene: ATP6AP2 was added
gene: ATP6AP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP6AP2 were set to X-linked recessive intellectual deficit - epilepsy
Additional findings_Paediatric v0.2 ATP1A3 Zornitza Stark gene: ATP1A3 was added
gene: ATP1A3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP1A3 were set to Rapid-onset dystonia-parkinsonism
Additional findings_Paediatric v0.2 ATN1 Zornitza Stark gene: ATN1 was added
gene: ATN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATN1 were set to Dentatorubral-pallidoluysian atrophy 1
Additional findings_Paediatric v0.2 ATIC Zornitza Stark gene: ATIC was added
gene: ATIC was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATIC were set to AICA-Ribosiduria
Additional findings_Paediatric v0.2 ASNS Zornitza Stark gene: ASNS was added
gene: ASNS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASNS were set to Microcephaly, intellectual disability, cerebral atrophy & intractable seizures
Additional findings_Paediatric v0.2 ASCL1 Zornitza Stark gene: ASCL1 was added
gene: ASCL1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ASCL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ASCL1 were set to Congenital central hypoventilation
Additional findings_Paediatric v0.2 ARSE Zornitza Stark gene: ARSE was added
gene: ARSE was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARSE were set to Chondrodysplasia punctata, X-linked recessive
Additional findings_Paediatric v0.2 ARL13B Zornitza Stark gene: ARL13B was added
gene: ARL13B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL13B were set to Joubert syndrome
Additional findings_Paediatric v0.2 ARID1A Zornitza Stark gene: ARID1A was added
gene: ARID1A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ARID1A were set to Coffin-Siris syndrome
Additional findings_Paediatric v0.2 ARHGEF9 Zornitza Stark gene: ARHGEF9 was added
gene: ARHGEF9 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARHGEF9 were set to Hyperekplexia and epilepsy
Additional findings_Paediatric v0.2 ARHGAP31 Zornitza Stark gene: ARHGAP31 was added
gene: ARHGAP31 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ARHGAP31 were set to Syndromic cutis aplasia & limb anomalies
Additional findings_Paediatric v0.2 AR Zornitza Stark Source BabySeq Category C gene was added to AR.
Source Expert Review Red was added to AR.
Added phenotypes Spinal and bulbar muscular atrophy of Kennedy for gene: AR
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 APRT Zornitza Stark gene: APRT was added
gene: APRT was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APRT were set to Adenine phosphoribosyltransferase deficiency
Additional findings_Paediatric v0.2 APP Zornitza Stark gene: APP was added
gene: APP was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: APP were set to Alzheimer disease 1, familial
Additional findings_Paediatric v0.2 APOE Zornitza Stark gene: APOE was added
gene: APOE was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: APOE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOE were set to Sea-blue histiocyte disease
Additional findings_Paediatric v0.2 AP4M1 Zornitza Stark gene: AP4M1 was added
gene: AP4M1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive
Additional findings_Paediatric v0.2 AP1S3 Zornitza Stark gene: AP1S3 was added
gene: AP1S3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: AP1S3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AP1S3 were set to Pustular psoriasis
Additional findings_Paediatric v0.2 ANO5 Zornitza Stark Source BabySeq Category C gene was added to ANO5.
Source Expert Review Red was added to ANO5.
Mode of inheritance for gene ANO5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Gnathodiaphyseal dysplasia for gene: ANO5
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 ANKRD1 Zornitza Stark Source BabySeq Category C gene was added to ANKRD1.
Source Expert Review Red was added to ANKRD1.
Added phenotypes Cardiomyopathy, hypertrophic for gene: ANKRD1
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 AMPD1 Zornitza Stark gene: AMPD1 was added
gene: AMPD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMPD1 were set to Adenosine monophosphate deaminase deficiency
Additional findings_Paediatric v0.2 AMACR Zornitza Stark Added phenotypes Alpha-methylacyl-CoA racemase deficiency for gene: AMACR
Additional findings_Paediatric v0.2 AMACR Zornitza Stark gene: AMACR was added
gene: AMACR was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMACR were set to Bile acid synthesis defect, congenital, 4
Additional findings_Paediatric v0.2 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il
Additional findings_Paediatric v0.2 ALG2 Zornitza Stark gene: ALG2 was added
gene: ALG2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG2 were set to Congenital disorder of glycosylation, type Ii
Additional findings_Paediatric v0.2 ALG11 Zornitza Stark gene: ALG11 was added
gene: ALG11 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG11 were set to Congenital disorder of glycosylation type 1P
Additional findings_Paediatric v0.2 ALDOA Zornitza Stark gene: ALDOA was added
gene: ALDOA was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOA were set to Aldolase A deficiency
Additional findings_Paediatric v0.2 ALDH4A1 Zornitza Stark gene: ALDH4A1 was added
gene: ALDH4A1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH4A1 were set to Hyperprolinemia, type II
Additional findings_Paediatric v0.2 ALDH1A2 Zornitza Stark gene: ALDH1A2 was added
gene: ALDH1A2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ALDH1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ALDH1A2 were set to Tetralogy of Fallot
Additional findings_Paediatric v0.2 AKT3 Zornitza Stark gene: AKT3 was added
gene: AKT3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Additional findings_Paediatric v0.2 AKT2 Zornitza Stark gene: AKT2 was added
gene: AKT2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AKT2 were set to Severe insulin resistance and diabetes mellitus
Additional findings_Paediatric v0.2 AKAP9 Zornitza Stark gene: AKAP9 was added
gene: AKAP9 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: AKAP9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AKAP9 were set to Long QT syndrome
Additional findings_Paediatric v0.2 AK1 Zornitza Stark gene: AK1 was added
gene: AK1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: AK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AK1 were set to Hemolytic anemia due to adenylate kinase deficiency
Additional findings_Paediatric v0.2 AHSP Zornitza Stark gene: AHSP was added
gene: AHSP was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: AHSP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHSP were set to Thalassaemia
Additional findings_Paediatric v0.2 AGTR1 Zornitza Stark gene: AGTR1 was added
gene: AGTR1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis
Additional findings_Paediatric v0.2 AGT Zornitza Stark gene: AGT was added
gene: AGT was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGT were set to Renal tubular dysgenesis
Additional findings_Paediatric v0.2 AGPS Zornitza Stark gene: AGPS was added
gene: AGPS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPS were set to Rhizomelic chondrodysplasia punctata, type 3
Additional findings_Paediatric v0.2 ADAMTS2 Zornitza Stark gene: ADAMTS2 was added
gene: ADAMTS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS2 were set to Ehlers-Danlos syndrome VIIc
Additional findings_Paediatric v0.2 ADAM17 Zornitza Stark gene: ADAM17 was added
gene: ADAM17 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAM17 were set to Neonatal inflammatory skin and bowel disease
Additional findings_Paediatric v0.2 ACVR2B Zornitza Stark gene: ACVR2B was added
gene: ACVR2B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ACVR2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACVR2B were set to Left-right axis malformation
Additional findings_Paediatric v0.2 ACTN2 Zornitza Stark Source BabySeq Category C gene was added to ACTN2.
Source Expert Review Red was added to ACTN2.
Added phenotypes Cardiomyopathy, dilated for gene: ACTN2
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 ACTC1 Zornitza Stark Added phenotypes Left ventricular noncompaction for gene: ACTC1
Additional findings_Paediatric v0.2 ACTC1 Zornitza Stark Source BabySeq Category C gene was added to ACTC1.
Source Expert Review Red was added to ACTC1.
Added phenotypes Atrial septal defect for gene: ACTC1
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 ACTB Zornitza Stark Source BabySeq Category C gene was added to ACTB.
Source Expert Review Red was added to ACTB.
Added phenotypes Neutrophil dysfunction and recurrent infection for gene: ACTB
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 ACTA1 Zornitza Stark Source BabySeq Category C gene was added to ACTA1.
Source Expert Review Red was added to ACTA1.
Added phenotypes Congenital myopathy with fiber type disproportion for gene: ACTA1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 ACO2 Zornitza Stark gene: ACO2 was added
gene: ACO2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACO2 were set to Cerebellar-retinal degeneration, infantile
Additional findings_Paediatric v0.2 ACBD5 Zornitza Stark gene: ACBD5 was added
gene: ACBD5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ACBD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACBD5 were set to Thrombocytopaenia
Additional findings_Paediatric v0.2 ACADSB Zornitza Stark gene: ACADSB was added
gene: ACADSB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADSB were set to 2-Methylbutyryl-CoA dehydrogenase deficiency
Additional findings_Paediatric v0.2 ACADS Zornitza Stark gene: ACADS was added
gene: ACADS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of
Additional findings_Paediatric v0.2 ACADL Zornitza Stark gene: ACADL was added
gene: ACADL was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ACADL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADL were set to Sudden infant death
Additional findings_Paediatric v0.2 ABCD4 Zornitza Stark gene: ABCD4 was added
gene: ABCD4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCD4 were set to Methylmalonic aciduria and homocystinuria, cblJ type
Additional findings_Paediatric v0.2 ABCC9 Zornitza Stark Source BabySeq Category C gene was added to ABCC9.
Source Expert Review Red was added to ABCC9.
Added phenotypes Atrial fibrillation, familial for gene: ABCC9
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 ABCC2 Zornitza Stark gene: ABCC2 was added
gene: ABCC2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ABCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC2 were set to Dubin-Johnson syndrome
Additional findings_Paediatric v0.2 ABCB7 Zornitza Stark gene: ABCB7 was added
gene: ABCB7 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCB7 were set to Sideroblastic anaemia and ataxia
Additional findings_Paediatric v0.2 ABAT Zornitza Stark gene: ABAT was added
gene: ABAT was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABAT were set to GABA-transaminase deficiency
Additional findings_Paediatric v0.2 AARS2 Zornitza Stark gene: AARS2 was added
gene: AARS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AARS2 were set to Leukoencephalopathy, and ovarian failure in females
Additional findings_Paediatric v0.2 WT1 Zornitza Stark Source BabySeq Category B gene was added to WT1.
Source Expert Review Amber was added to WT1.
Added phenotypes Wilms tumor, type 1 for gene: WT1
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Additional findings_Paediatric v0.2 VWF Zornitza Stark gene: VWF was added
gene: VWF was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: VWF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VWF were set to von Willebrand disease
Additional findings_Paediatric v0.2 VCL Zornitza Stark gene: VCL was added
gene: VCL was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VCL were set to Cardiomyopathy, dilated
Additional findings_Paediatric v0.2 TTN Zornitza Stark Source BabySeq Category B gene was added to TTN.
Source Expert Review Amber was added to TTN.
Mode of inheritance for gene TTN was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cardiomyopathy, dilated for gene: TTN
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Additional findings_Paediatric v0.2 TPM1 Zornitza Stark gene: TPM1 was added
gene: TPM1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TPM1 were set to Cardiomyopathy, hypertrophic
Additional findings_Paediatric v0.2 TNNT2 Zornitza Stark Added phenotypes Familial hypertrophic cardiomyopathy for gene: TNNT2
Additional findings_Paediatric v0.2 TNNT2 Zornitza Stark gene: TNNT2 was added
gene: TNNT2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNT2 were set to Cardiomyopathy, dilated
Additional findings_Paediatric v0.2 TNNI3 Zornitza Stark Added phenotypes Familial hypertrophic cardiomyopathy for gene: TNNI3
Additional findings_Paediatric v0.2 TNNI3 Zornitza Stark gene: TNNI3 was added
gene: TNNI3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: TNNI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNI3 were set to Cardiomyopathy, dilated
Additional findings_Paediatric v0.2 TNNC1 Zornitza Stark gene: TNNC1 was added
gene: TNNC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNC1 were set to Cardiomyopathy, dilated
Additional findings_Paediatric v0.2 TINF2 Zornitza Stark gene: TINF2 was added
gene: TINF2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TINF2 were set to Dyskeratosis congenita
Additional findings_Paediatric v0.2 TERT Zornitza Stark gene: TERT was added
gene: TERT was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: TERT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TERT were set to Dyskeratosis congenita
Additional findings_Paediatric v0.2 TERC Zornitza Stark gene: TERC was added
gene: TERC was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TERC were set to Dyskeratosis congenita
Additional findings_Paediatric v0.2 SNTA1 Zornitza Stark gene: SNTA1 was added
gene: SNTA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: SNTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SNTA1 were set to Long QT syndrome
Additional findings_Paediatric v0.2 SDHC Zornitza Stark gene: SDHC was added
gene: SDHC was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHC were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes
Additional findings_Paediatric v0.2 SDHB Zornitza Stark gene: SDHB was added
gene: SDHB was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHB were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes
Additional findings_Paediatric v0.2 SDHAF2 Zornitza Stark gene: SDHAF2 was added
gene: SDHAF2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHAF2 were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes
Additional findings_Paediatric v0.2 SCN5A Zornitza Stark Added phenotypes Brugada syndrome for gene: SCN5A
Additional findings_Paediatric v0.2 SCN5A Zornitza Stark gene: SCN5A was added
gene: SCN5A was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN5A were set to Long QT syndrome
Additional findings_Paediatric v0.2 RYR1 Zornitza Stark Source BabySeq Category B gene was added to RYR1.
Source Expert Review Amber was added to RYR1.
Mode of inheritance for gene RYR1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Malignant hyperthermia for gene: RYR1
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Additional findings_Paediatric v0.2 RBM20 Zornitza Stark gene: RBM20 was added
gene: RBM20 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD
Additional findings_Paediatric v0.2 PRKAG2 Zornitza Stark Source BabySeq Category B gene was added to PRKAG2.
Source Expert Review Amber was added to PRKAG2.
Added phenotypes Cardiomyopathy, hypertrophic for gene: PRKAG2
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Additional findings_Paediatric v0.2 PLN Zornitza Stark gene: PLN was added
gene: PLN was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PLN were set to Cardiomyopathy, dilated
Additional findings_Paediatric v0.2 PKP2 Zornitza Stark gene: PKP2 was added
gene: PKP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9
Additional findings_Paediatric v0.2 PHOX2B Zornitza Stark gene: PHOX2B was added
gene: PHOX2B was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PHOX2B were set to Central hypoventilation syndrome
Additional findings_Paediatric v0.2 PCSK9 Zornitza Stark gene: PCSK9 was added
gene: PCSK9 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PCSK9 were set to Hypercholesterolemia
Additional findings_Paediatric v0.2 NKX2-5 Zornitza Stark gene: NKX2-5 was added
gene: NKX2-5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NKX2-5 were set to Congenital heart disease
Additional findings_Paediatric v0.2 MYLK Zornitza Stark gene: MYLK was added
gene: MYLK was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: MYLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYLK were set to Aortic aneurysm, familial thoracic 7
Additional findings_Paediatric v0.2 MYL3 Zornitza Stark gene: MYL3 was added
gene: MYL3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: MYL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYL3 were set to Cardiomyopathy, familial hypertrophic, 8
Additional findings_Paediatric v0.2 MYL2 Zornitza Stark gene: MYL2 was added
gene: MYL2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: MYL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYL2 were set to Cardiomyopathy, familial hypertrophic, 10
Additional findings_Paediatric v0.2 MYH7 Zornitza Stark Added phenotypes Left ventricular noncompaction for gene: MYH7
Additional findings_Paediatric v0.2 MYH7 Zornitza Stark Added phenotypes Cardiomyopathy, dilated for gene: MYH7
Additional findings_Paediatric v0.2 MYH7 Zornitza Stark Source BabySeq Category B gene was added to MYH7.
Source Expert Review Amber was added to MYH7.
Added phenotypes Cardiomyopathy, familial hypertrophic for gene: MYH7
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Additional findings_Paediatric v0.2 MYH11 Zornitza Stark gene: MYH11 was added
gene: MYH11 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4
Additional findings_Paediatric v0.2 MYBPC3 Zornitza Stark gene: MYBPC3 was added
gene: MYBPC3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: MYBPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, familial hypertrophic
Additional findings_Paediatric v0.2 MTHFR Zornitza Stark gene: MTHFR was added
gene: MTHFR was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency
Additional findings_Paediatric v0.2 MCCC2 Zornitza Stark gene: MCCC2 was added
gene: MCCC2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCCC2 were set to 3-Methylcrotonyl-CoA carboxylase 2 deficiency
Additional findings_Paediatric v0.2 MCCC1 Zornitza Stark gene: MCCC1 was added
gene: MCCC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCCC1 were set to 3-Methylcrotonyl-CoA carboxylase 1 deficiency
Additional findings_Paediatric v0.2 LMNA Zornitza Stark Source BabySeq Category B gene was added to LMNA.
Source Expert Review Amber was added to LMNA.
Mode of inheritance for gene LMNA was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Dilated cardiomyopathy for gene: LMNA
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Additional findings_Paediatric v0.2 KCNQ1 Zornitza Stark Source BabySeq Category B gene was added to KCNQ1.
Source Expert Review Amber was added to KCNQ1.
Mode of inheritance for gene KCNQ1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Long QT syndrome-1 for gene: KCNQ1
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Additional findings_Paediatric v0.2 KCNH2 Zornitza Stark gene: KCNH2 was added
gene: KCNH2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNH2 were set to Long QT syndrome-2
Additional findings_Paediatric v0.2 KCNE2 Zornitza Stark gene: KCNE2 was added
gene: KCNE2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: KCNE2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNE2 were set to Long QT syndrome-6
Additional findings_Paediatric v0.2 KCNE1 Zornitza Stark Source BabySeq Category B gene was added to KCNE1.
Source Expert Review Amber was added to KCNE1.
Mode of inheritance for gene KCNE1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Long QT syndrome-5 for gene: KCNE1
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Additional findings_Paediatric v0.2 KCNA5 Zornitza Stark gene: KCNA5 was added
gene: KCNA5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: KCNA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNA5 were set to Atrial fibrillation
Additional findings_Paediatric v0.2 JUP Zornitza Stark Source BabySeq Category B gene was added to JUP.
Source Expert Review Amber was added to JUP.
Mode of inheritance for gene JUP was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Arrhythmogenic right ventricular dysplasia 12 for gene: JUP
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Additional findings_Paediatric v0.2 GPD1L Zornitza Stark gene: GPD1L was added
gene: GPD1L was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: GPD1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GPD1L were set to Brugada syndrome
Additional findings_Paediatric v0.2 GJA5 Zornitza Stark gene: GJA5 was added
gene: GJA5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: GJA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GJA5 were set to Atrial fibrillation
Additional findings_Paediatric v0.2 GCH1 Zornitza Stark gene: GCH1 was added
gene: GCH1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: GCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GCH1 were set to Dystonia, dopa-responsive
Additional findings_Paediatric v0.2 DSP Zornitza Stark Source BabySeq Category B gene was added to DSP.
Source Expert Review Amber was added to DSP.
Added phenotypes Arrhythmogenic right ventricular dysplasia/cardiomyopathy for gene: DSP
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Additional findings_Paediatric v0.2 DSG2 Zornitza Stark gene: DSG2 was added
gene: DSG2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular cardiomyopathy
Additional findings_Paediatric v0.2 DSC2 Zornitza Stark gene: DSC2 was added
gene: DSC2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: DSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular cardiomyopathy
Additional findings_Paediatric v0.2 DMD Zornitza Stark Source BabySeq Category B gene was added to DMD.
Source Expert Review Amber was added to DMD.
Added phenotypes Cardiomyopathy, dilated for gene: DMD
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Additional findings_Paediatric v0.2 DKC1 Zornitza Stark gene: DKC1 was added
gene: DKC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DKC1 were set to Dyskeratosis congenita
Additional findings_Paediatric v0.2 DES Zornitza Stark Source BabySeq Category B gene was added to DES.
Source Expert Review Amber was added to DES.
Added phenotypes Cardiomyopathy, dilated for gene: DES
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Additional findings_Paediatric v0.2 CSRP3 Zornitza Stark gene: CSRP3 was added
gene: CSRP3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CSRP3 were set to Cardiomyopathy, familial hypertrophic, 12
Additional findings_Paediatric v0.2 CRYAB Zornitza Stark Source BabySeq Category B gene was added to CRYAB.
Source Expert Review Amber was added to CRYAB.
Added phenotypes Cardiomyopathy, dilated for gene: CRYAB
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Additional findings_Paediatric v0.2 CP Zornitza Stark gene: CP was added
gene: CP was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CP were set to Aceruloplasminaemia
Additional findings_Paediatric v0.2 CDKN2A Zornitza Stark gene: CDKN2A was added
gene: CDKN2A was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDKN2A were set to Melanoma
Additional findings_Paediatric v0.2 CDH1 Zornitza Stark gene: CDH1 was added
gene: CDH1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDH1 were set to Gastric cancer
Additional findings_Paediatric v0.2 CACNA1C Zornitza Stark gene: CACNA1C was added
gene: CACNA1C was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1C were set to Brugada syndrome
Additional findings_Paediatric v0.2 BMPR2 Zornitza Stark gene: BMPR2 was added
gene: BMPR2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary
Additional findings_Paediatric v0.2 BAG3 Zornitza Stark gene: BAG3 was added
gene: BAG3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BAG3 were set to Cardiomyopathy, dilated
Additional findings_Paediatric v0.2 ANKRD1 Zornitza Stark gene: ANKRD1 was added
gene: ANKRD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: ANKRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD1 were set to Cardiomyopathy, dilated
Additional findings_Paediatric v0.2 ANK2 Zornitza Stark gene: ANK2 was added
gene: ANK2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANK2 were set to Long QT syndrome
Additional findings_Paediatric v0.2 AIP Zornitza Stark gene: AIP was added
gene: AIP was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: AIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AIP were set to Pituitary adenoma
Additional findings_Paediatric v0.2 ACTN2 Zornitza Stark gene: ACTN2 was added
gene: ACTN2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTN2 were set to Cardiomyopathy, familial hypertrophic
Additional findings_Paediatric v0.2 ACTC1 Zornitza Stark Added phenotypes Cardiomyopathy, familial hypertrophic for gene: ACTC1
Additional findings_Paediatric v0.2 ACTC1 Zornitza Stark gene: ACTC1 was added
gene: ACTC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTC1 were set to Cardiomyopathy, dilated
Additional findings_Paediatric v0.2 ACTA2 Zornitza Stark gene: ACTA2 was added
gene: ACTA2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTA2 were set to Aortic aneurysm, familial thoracic
Additional findings_Paediatric v0.2 ABCC9 Zornitza Stark Source BabySeq Category B gene was added to ABCC9.
Source Expert Review Amber was added to ABCC9.
Added phenotypes Cardiomyopathy, dilated for gene: ABCC9
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Additional findings_Paediatric v0.2 ZNF469 Zornitza Stark gene: ZNF469 was added
gene: ZNF469 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF469 were set to Brittle cornea syndrome
Additional findings_Paediatric v0.2 ZMPSTE24 Zornitza Stark gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMPSTE24 were set to Restrictive dermopathy
Additional findings_Paediatric v0.2 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZIC3 were set to Heterotaxy
Additional findings_Paediatric v0.2 ZIC2 Zornitza Stark gene: ZIC2 was added
gene: ZIC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZIC2 were set to Holoprosencephaly-5
Additional findings_Paediatric v0.2 ZEB2 Zornitza Stark gene: ZEB2 was added
gene: ZEB2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome
Additional findings_Paediatric v0.2 ZAP70 Zornitza Stark gene: ZAP70 was added
gene: ZAP70 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZAP70 were set to ZAP70-related severe combined immunodeficiency
Additional findings_Paediatric v0.2 XPC Zornitza Stark gene: XPC was added
gene: XPC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPC were set to Xeroderma pigmentosum
Additional findings_Paediatric v0.2 XPA Zornitza Stark gene: XPA was added
gene: XPA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPA were set to Xeroderma pigmentosum
Additional findings_Paediatric v0.2 WT1 Zornitza Stark Added phenotypes Frasier syndrome for gene: WT1
Additional findings_Paediatric v0.2 WT1 Zornitza Stark gene: WT1 was added
gene: WT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WT1 were set to Denys-Drash syndrome
Additional findings_Paediatric v0.2 WRN Zornitza Stark gene: WRN was added
gene: WRN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRN were set to Werner syndrome
Additional findings_Paediatric v0.2 WNT10A Zornitza Stark gene: WNT10A was added
gene: WNT10A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: WNT10A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT10A were set to Ectodermal dysplasia
Additional findings_Paediatric v0.2 WFS1 Zornitza Stark gene: WFS1 was added
gene: WFS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WFS1 were set to Wolfram syndrome
Additional findings_Paediatric v0.2 WDR62 Zornitza Stark gene: WDR62 was added
gene: WDR62 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
Additional findings_Paediatric v0.2 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: WAS were set to Wiskott-Aldrich syndrome
Additional findings_Paediatric v0.2 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS33B were set to Arthrogryposis renal dysfunction cholestasis syndrome
Additional findings_Paediatric v0.2 VPS13B Zornitza Stark gene: VPS13B was added
gene: VPS13B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13B were set to Cohen syndrome
Additional findings_Paediatric v0.2 VPS13A Zornitza Stark gene: VPS13A was added
gene: VPS13A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13A were set to Choreoacanthocytosis
Additional findings_Paediatric v0.2 VLDLR Zornitza Stark gene: VLDLR was added
gene: VLDLR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
Additional findings_Paediatric v0.2 VIPAS39 Zornitza Stark gene: VIPAS39 was added
gene: VIPAS39 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction and cholestasis
Additional findings_Paediatric v0.2 VHL Zornitza Stark gene: VHL was added
gene: VHL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VHL were set to von Hippel-Lindau syndrome
Additional findings_Paediatric v0.2 VDR Zornitza Stark gene: VDR was added
gene: VDR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VDR were set to Vitamin D-dependent rickets
Additional findings_Paediatric v0.2 VCP Zornitza Stark gene: VCP was added
gene: VCP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VCP were set to Inclusion body myopathy with early-onset paget disease and frontotemporal dementia
Additional findings_Paediatric v0.2 VCAN Zornitza Stark gene: VCAN was added
gene: VCAN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: VCAN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VCAN were set to Wagner syndrome
Additional findings_Paediatric v0.2 USH2A Zornitza Stark gene: USH2A was added
gene: USH2A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH2A were set to Usher syndrome 2
Additional findings_Paediatric v0.2 USH1G Zornitza Stark gene: USH1G was added
gene: USH1G was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: USH1G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1G were set to Usher syndrome 1
Additional findings_Paediatric v0.2 USH1C Zornitza Stark gene: USH1C was added
gene: USH1C was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: USH1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1C were set to Usher syndrome 1
Additional findings_Paediatric v0.2 UROS Zornitza Stark gene: UROS was added
gene: UROS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic
Additional findings_Paediatric v0.2 UROD Zornitza Stark gene: UROD was added
gene: UROD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: UROD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROD were set to Porphyria, hepatoerythropoietic
Additional findings_Paediatric v0.2 UNC13D Zornitza Stark gene: UNC13D was added
gene: UNC13D was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC13D were set to Hemophagocytic lymphohistiocytosis, familial, 3
Additional findings_Paediatric v0.2 UMOD Zornitza Stark gene: UMOD was added
gene: UMOD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: UMOD were set to Nephropathy
Additional findings_Paediatric v0.2 UGT1A1 Zornitza Stark gene: UGT1A1 was added
gene: UGT1A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A1 were set to Crigler-Najjar syndrome
Additional findings_Paediatric v0.2 UBR1 Zornitza Stark gene: UBR1 was added
gene: UBR1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBR1 were set to Johanson-Blizzard syndrome
Additional findings_Paediatric v0.2 TYR Zornitza Stark gene: TYR was added
gene: TYR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYR were set to Albinism, oculocutaneous 1
Additional findings_Paediatric v0.2 TYMP Zornitza Stark gene: TYMP was added
gene: TYMP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome
Additional findings_Paediatric v0.2 TWIST1 Zornitza Stark gene: TWIST1 was added
gene: TWIST1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TWIST1 were set to Saethre-Chotzen syndrome
Additional findings_Paediatric v0.2 TTR Zornitza Stark gene: TTR was added
gene: TTR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related
Additional findings_Paediatric v0.2 TTPA Zornitza Stark gene: TTPA was added
gene: TTPA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency
Additional findings_Paediatric v0.2 TTN Zornitza Stark gene: TTN was added
gene: TTN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTN were set to Centronuclear myopathy
Additional findings_Paediatric v0.2 TTC7A Zornitza Stark gene: TTC7A was added
gene: TTC7A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC7A were set to Immunodeficiency, combined, with intestinal atresias
Additional findings_Paediatric v0.2 TTC37 Zornitza Stark gene: TTC37 was added
gene: TTC37 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome
Additional findings_Paediatric v0.2 TSHR Zornitza Stark gene: TSHR was added
gene: TSHR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TSHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSHR were set to Hypothyroidism
Additional findings_Paediatric v0.2 TSHB Zornitza Stark gene: TSHB was added
gene: TSHB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSHB were set to Hypothryoidism, congenital, nongoitrous 4
Additional findings_Paediatric v0.2 TSEN54 Zornitza Stark gene: TSEN54 was added
gene: TSEN54 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia type 4
Additional findings_Paediatric v0.2 TSC2 Zornitza Stark gene: TSC2 was added
gene: TSC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TSC2 were set to Tuberous sclerosis 2
Additional findings_Paediatric v0.2 TSC1 Zornitza Stark gene: TSC1 was added
gene: TSC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TSC1 were set to Tuberous sclerosis 1
Additional findings_Paediatric v0.2 TRPM4 Zornitza Stark gene: TRPM4 was added
gene: TRPM4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPM4 were set to Cardiac conduction disease
Additional findings_Paediatric v0.2 TRMU Zornitza Stark gene: TRMU was added
gene: TRMU was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMU were set to Liver failure, transient infantile
Additional findings_Paediatric v0.2 TRIOBP Zornitza Stark gene: TRIOBP was added
gene: TRIOBP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TRIOBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIOBP were set to Deafness, autosomal recessive
Additional findings_Paediatric v0.2 TRIM37 Zornitza Stark gene: TRIM37 was added
gene: TRIM37 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to Mulibrey nanism syndrome
Additional findings_Paediatric v0.2 TRIM32 Zornitza Stark gene: TRIM32 was added
gene: TRIM32 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H
Additional findings_Paediatric v0.2 TREX1 Zornitza Stark gene: TREX1 was added
gene: TREX1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1
Additional findings_Paediatric v0.2 TRAPPC2 Zornitza Stark gene: TRAPPC2 was added
gene: TRAPPC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TRAPPC2 were set to Spondyloepiphyseal dysplasia tarda
Additional findings_Paediatric v0.2 TPP1 Zornitza Stark gene: TPP1 was added
gene: TPP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to Neuronal ceroid lipofuscinosis
Additional findings_Paediatric v0.2 TPO Zornitza Stark gene: TPO was added
gene: TPO was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A
Additional findings_Paediatric v0.2 TPM3 Zornitza Stark Added phenotypes Congenital fiber-type disproportion myopathy for gene: TPM3
Additional findings_Paediatric v0.2 TPM3 Zornitza Stark gene: TPM3 was added
gene: TPM3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TPM3 were set to Nemaline myopathy
Additional findings_Paediatric v0.2 TPM2 Zornitza Stark Added phenotypes Arthrogryposis multiplex congenita, distal for gene: TPM2
Additional findings_Paediatric v0.2 TPM2 Zornitza Stark gene: TPM2 was added
gene: TPM2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TPM2 were set to Nemaline myopathy
Additional findings_Paediatric v0.2 TP53 Zornitza Stark gene: TP53 was added
gene: TP53 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TP53 were set to Li-Fraumeni syndrome
Additional findings_Paediatric v0.2 TNNT3 Zornitza Stark gene: TNNT3 was added
gene: TNNT3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TNNT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNT3 were set to Arthyrgryposis, distal
Additional findings_Paediatric v0.2 TNNT1 Zornitza Stark gene: TNNT1 was added
gene: TNNT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNNT1 were set to Nemaline myopathy, Amish type
Additional findings_Paediatric v0.2 TNNI2 Zornitza Stark gene: TNNI2 was added
gene: TNNI2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TNNI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNI2 were set to Distal arthrogryposis syndrome 2b
Additional findings_Paediatric v0.2 TNFSF11 Zornitza Stark gene: TNFSF11 was added
gene: TNFSF11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2
Additional findings_Paediatric v0.2 TNFRSF11B Zornitza Stark gene: TNFRSF11B was added
gene: TNFRSF11B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11B were set to Paget disease
Additional findings_Paediatric v0.2 TMPRSS3 Zornitza Stark gene: TMPRSS3 was added
gene: TMPRSS3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TMPRSS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMPRSS3 were set to Deafness, autosomal recessive
Additional findings_Paediatric v0.2 TMIE Zornitza Stark gene: TMIE was added
gene: TMIE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TMIE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMIE were set to Deafness, autosomal recessive
Additional findings_Paediatric v0.2 TMEM67 Zornitza Stark Added phenotypes Meckel syndrome for gene: TMEM67
Additional findings_Paediatric v0.2 TMEM67 Zornitza Stark gene: TMEM67 was added
gene: TMEM67 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to Joubert syndrome
Additional findings_Paediatric v0.2 TMEM43 Zornitza Stark gene: TMEM43 was added
gene: TMEM43 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5
Additional findings_Paediatric v0.2 TMC1 Zornitza Stark gene: TMC1 was added
gene: TMC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TMC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMC1 were set to Deafness
Additional findings_Paediatric v0.2 TK2 Zornitza Stark gene: TK2 was added
gene: TK2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome
Additional findings_Paediatric v0.2 TIMM8A Zornitza Stark gene: TIMM8A was added
gene: TIMM8A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TIMM8A were set to Mohr-Tranebjaerg syndrome
Additional findings_Paediatric v0.2 THRB Zornitza Stark gene: THRB was added
gene: THRB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: THRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: THRB were set to Thyroid hormone resistance
Additional findings_Paediatric v0.2 THRA Zornitza Stark gene: THRA was added
gene: THRA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: THRA were set to Hypothyroidism, congenital, nongoitrous, 6
Additional findings_Paediatric v0.2 TH Zornitza Stark gene: TH was added
gene: TH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TH were set to Tyrosine hydroxylase deficiency
Additional findings_Paediatric v0.2 TGM5 Zornitza Stark gene: TGM5 was added
gene: TGM5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TGM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM5 were set to Peeling skin syndrome, acral type
Additional findings_Paediatric v0.2 TGM1 Zornitza Stark gene: TGM1 was added
gene: TGM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive
Additional findings_Paediatric v0.2 TGFBR2 Zornitza Stark gene: TGFBR2 was added
gene: TGFBR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome
Additional findings_Paediatric v0.2 TGFBR1 Zornitza Stark gene: TGFBR1 was added
gene: TGFBR1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome
Additional findings_Paediatric v0.2 TG Zornitza Stark gene: TG was added
gene: TG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TG were set to Thyroid dyshormonogenesis 3
Additional findings_Paediatric v0.2 TFG Zornitza Stark gene: TFG was added
gene: TFG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TFG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TFG were set to Hereditary motor and sensory neuropathy
Additional findings_Paediatric v0.2 TFAP2B Zornitza Stark gene: TFAP2B was added
gene: TFAP2B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TFAP2B were set to Char syndrome
Additional findings_Paediatric v0.2 TFAP2A Zornitza Stark gene: TFAP2A was added
gene: TFAP2A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TFAP2A were set to Branchiooculofacial syndrome
Additional findings_Paediatric v0.2 TECTA Zornitza Stark gene: TECTA was added
gene: TECTA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TECTA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TECTA were set to Deafness
Additional findings_Paediatric v0.2 TCOF1 Zornitza Stark gene: TCOF1 was added
gene: TCOF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TCOF1 were set to Treacher Collins syndrome 1
Additional findings_Paediatric v0.2 TCIRG1 Zornitza Stark gene: TCIRG1 was added
gene: TCIRG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCIRG1 were set to Osteopetrosis, infantile malignant
Additional findings_Paediatric v0.2 TCAP Zornitza Stark gene: TCAP was added
gene: TCAP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, type 2G
Additional findings_Paediatric v0.2 TBX5 Zornitza Stark gene: TBX5 was added
gene: TBX5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX5 were set to Holt-Oram syndrome
Additional findings_Paediatric v0.2 TBX1 Zornitza Stark gene: TBX1 was added
gene: TBX1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX1 were set to DiGeorge syndrome
Additional findings_Paediatric v0.2 TBC1D24 Zornitza Stark gene: TBC1D24 was added
gene: TBC1D24 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D24 were set to Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome
Additional findings_Paediatric v0.2 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TAZ were set to Barth syndrome
Additional findings_Paediatric v0.2 TAT Zornitza Stark gene: TAT was added
gene: TAT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAT were set to Tyrosinemia, type II
Additional findings_Paediatric v0.2 SURF1 Zornitza Stark gene: SURF1 was added
gene: SURF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX deficiency
Additional findings_Paediatric v0.2 SUOX Zornitza Stark gene: SUOX was added
gene: SUOX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUOX were set to Sulphite oxidase deficiency
Additional findings_Paediatric v0.2 SUCLG1 Zornitza Stark gene: SUCLG1 was added
gene: SUCLG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLG1 were set to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
Additional findings_Paediatric v0.2 SUCLA2 Zornitza Stark gene: SUCLA2 was added
gene: SUCLA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria)
Additional findings_Paediatric v0.2 STXBP2 Zornitza Stark gene: STXBP2 was added
gene: STXBP2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis
Additional findings_Paediatric v0.2 STXBP1 Zornitza Stark gene: STXBP1 was added
gene: STXBP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STXBP1 were set to Epileptic encephalopathy, early infantile
Additional findings_Paediatric v0.2 STX11 Zornitza Stark gene: STX11 was added
gene: STX11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STX11 were set to Hemophagocytic lymphohistiocytosis, familial, 4
Additional findings_Paediatric v0.2 STS Zornitza Stark gene: STS was added
gene: STS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: STS were set to Ichthyosis, X-linked
Additional findings_Paediatric v0.2 STRC Zornitza Stark gene: STRC was added
gene: STRC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: STRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRC were set to Deafness, autosomal recessive
Additional findings_Paediatric v0.2 STRA6 Zornitza Stark gene: STRA6 was added
gene: STRA6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRA6 were set to Microphthalmia, syndromic
Additional findings_Paediatric v0.2 STK11 Zornitza Stark gene: STK11 was added
gene: STK11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STK11 were set to Peutz-Jeghers syndrome
Additional findings_Paediatric v0.2 STAT3 Zornitza Stark gene: STAT3 was added
gene: STAT3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STAT3 were set to Hyper-IgE recurrent infection syndrome
Additional findings_Paediatric v0.2 STAR Zornitza Stark gene: STAR was added
gene: STAR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAR were set to Congenital lipoid adrenal hyperplasia,
Additional findings_Paediatric v0.2 SRCAP Zornitza Stark gene: SRCAP was added
gene: SRCAP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SRCAP were set to Floating-Harbor syndrome
Additional findings_Paediatric v0.2 SPTLC1 Zornitza Stark gene: SPTLC1 was added
gene: SPTLC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPTLC1 were set to Neuropathy, hereditary sensory and autonomic, type IA
Additional findings_Paediatric v0.2 SPTB Zornitza Stark gene: SPTB was added
gene: SPTB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SPTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPTB were set to Spherocytosis
Additional findings_Paediatric v0.2 SPTA1 Zornitza Stark gene: SPTA1 was added
gene: SPTA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SPTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPTA1 were set to Elliptocytosis
Additional findings_Paediatric v0.2 SPRED1 Zornitza Stark gene: SPRED1 was added
gene: SPRED1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPRED1 were set to Legius syndrome
Additional findings_Paediatric v0.2 SPR Zornitza Stark gene: SPR was added
gene: SPR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPR were set to Sepiapterin reductase deficiency
Additional findings_Paediatric v0.2 SPINK5 Zornitza Stark gene: SPINK5 was added
gene: SPINK5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPINK5 were set to Netherton syndrome 1; Netherton syndrome
Additional findings_Paediatric v0.2 SP110 Zornitza Stark gene: SP110 was added
gene: SP110 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency
Additional findings_Paediatric v0.2 SOX9 Zornitza Stark gene: SOX9 was added
gene: SOX9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOX9 were set to Campomelic dysplasia
Additional findings_Paediatric v0.2 SOX10 Zornitza Stark gene: SOX10 was added
gene: SOX10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOX10 were set to Shah-Waardenburg syndrome
Additional findings_Paediatric v0.2 SMPX Zornitza Stark gene: SMPX was added
gene: SMPX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SMPX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SMPX were set to Deafness, X-linked
Additional findings_Paediatric v0.2 SMPD1 Zornitza Stark Added phenotypes Niemann-Pick disease, type B for gene: SMPD1
Additional findings_Paediatric v0.2 SMPD1 Zornitza Stark gene: SMPD1 was added
gene: SMPD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type A
Additional findings_Paediatric v0.2 SMN1 Zornitza Stark gene: SMN1 was added
gene: SMN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy
Additional findings_Paediatric v0.2 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SMC1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMC1A were set to Cornelia de Lange syndrome
Additional findings_Paediatric v0.2 SMARCAL1 Zornitza Stark gene: SMARCAL1 was added
gene: SMARCAL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia
Additional findings_Paediatric v0.2 SMAD4 Zornitza Stark gene: SMAD4 was added
gene: SMAD4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Juvenile polyposis syndrome
Additional findings_Paediatric v0.2 SMAD3 Zornitza Stark gene: SMAD3 was added
gene: SMAD3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD3 were set to Loeys-Dietz syndrome
Additional findings_Paediatric v0.2 SLCO2A1 Zornitza Stark gene: SLCO2A1 was added
gene: SLCO2A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLCO2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLCO2A1 were set to Hypertrophic osteoarthropathy, primary, autosomal recessive 2
Additional findings_Paediatric v0.2 SLC9A6 Zornitza Stark gene: SLC9A6 was added
gene: SLC9A6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC9A6 were set to Christianson syndrome
Additional findings_Paediatric v0.2 SLC7A9 Zornitza Stark gene: SLC7A9 was added
gene: SLC7A9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC7A9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC7A9 were set to Cystinuria
Additional findings_Paediatric v0.2 SLC7A7 Zornitza Stark gene: SLC7A7 was added
gene: SLC7A7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance
Additional findings_Paediatric v0.2 SLC6A8 Zornitza Stark gene: SLC6A8 was added
gene: SLC6A8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC6A8 were set to Creatine deficiency syndrome, X-linked
Additional findings_Paediatric v0.2 SLC6A5 Zornitza Stark gene: SLC6A5 was added
gene: SLC6A5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A5 were set to Hyperekplexia 3
Additional findings_Paediatric v0.2 SLC5A5 Zornitza Stark gene: SLC5A5 was added
gene: SLC5A5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A5 were set to Thyroid dyshormonogenesis 1
Additional findings_Paediatric v0.2 SLC5A2 Zornitza Stark gene: SLC5A2 was added
gene: SLC5A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC5A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A2 were set to Renal glucosuria
Additional findings_Paediatric v0.2 SLC4A11 Zornitza Stark gene: SLC4A11 was added
gene: SLC4A11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A11 were set to Corneal endothelial dystrophy
Additional findings_Paediatric v0.2 SLC4A1 Zornitza Stark gene: SLC4A1 was added
gene: SLC4A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC4A1 were set to Spherocytosis
Additional findings_Paediatric v0.2 SLC46A1 Zornitza Stark gene: SLC46A1 was added
gene: SLC46A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary
Additional findings_Paediatric v0.2 SLC45A2 Zornitza Stark gene: SLC45A2 was added
gene: SLC45A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC45A2 were set to Oculocutaneous albinism, type IV
Additional findings_Paediatric v0.2 SLC3A1 Zornitza Stark gene: SLC3A1 was added
gene: SLC3A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC3A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC3A1 were set to Cystinuria
Additional findings_Paediatric v0.2 SLC39A4 Zornitza Stark gene: SLC39A4 was added
gene: SLC39A4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica
Additional findings_Paediatric v0.2 SLC37A4 Zornitza Stark gene: SLC37A4 was added
gene: SLC37A4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib
Additional findings_Paediatric v0.2 SLC35D1 Zornitza Stark gene: SLC35D1 was added
gene: SLC35D1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia
Additional findings_Paediatric v0.2 SLC34A3 Zornitza Stark gene: SLC34A3 was added
gene: SLC34A3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria
Additional findings_Paediatric v0.2 SLC34A2 Zornitza Stark gene: SLC34A2 was added
gene: SLC34A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC34A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC34A2 were set to Pulmonary alveolar microlithiasis
Additional findings_Paediatric v0.2 SLC2A10 Zornitza Stark gene: SLC2A10 was added
gene: SLC2A10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome
Additional findings_Paediatric v0.2 SLC2A1 Zornitza Stark gene: SLC2A1 was added
gene: SLC2A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC2A1 were set to GLUT1 deficiency syndrome 1
Additional findings_Paediatric v0.2 SLC27A4 Zornitza Stark gene: SLC27A4 was added
gene: SLC27A4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome
Additional findings_Paediatric v0.2 SLC26A4 Zornitza Stark gene: SLC26A4 was added
gene: SLC26A4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A4 were set to Pendred syndrome
Additional findings_Paediatric v0.2 SLC26A3 Zornitza Stark gene: SLC26A3 was added
gene: SLC26A3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A3 were set to Chloride diarrhea, congenital, Finnish type
Additional findings_Paediatric v0.2 SLC26A2 Zornitza Stark gene: SLC26A2 was added
gene: SLC26A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A2 were set to Achondrogenesis 1B
Additional findings_Paediatric v0.2 SLC25A4 Zornitza Stark gene: SLC25A4 was added
gene: SLC25A4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC25A4 were set to Progressive external ophthalmoplegia
Additional findings_Paediatric v0.2 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
Additional findings_Paediatric v0.2 SLC25A20 Zornitza Stark gene: SLC25A20 was added
gene: SLC25A20 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency
Additional findings_Paediatric v0.2 SLC25A15 Zornitza Stark gene: SLC25A15 was added
gene: SLC25A15 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
Additional findings_Paediatric v0.2 SLC25A13 Zornitza Stark gene: SLC25A13 was added
gene: SLC25A13 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A13 were set to Citrullinemia
Additional findings_Paediatric v0.2 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary
Additional findings_Paediatric v0.2 SLC19A3 Zornitza Stark gene: SLC19A3 was added
gene: SLC19A3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to Basal ganglia disease, biotin-responsive
Additional findings_Paediatric v0.2 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome
Additional findings_Paediatric v0.2 SLC17A5 Zornitza Stark gene: SLC17A5 was added
gene: SLC17A5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile
Additional findings_Paediatric v0.2 SLC16A2 Zornitza Stark gene: SLC16A2 was added
gene: SLC16A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome
Additional findings_Paediatric v0.2 SLC12A6 Zornitza Stark gene: SLC12A6 was added
gene: SLC12A6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A6 were set to Agenesis of the corpus callosum with peripheral neuropathy
Additional findings_Paediatric v0.2 SLC12A3 Zornitza Stark gene: SLC12A3 was added
gene: SLC12A3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A3 were set to Gitelman syndrome
Additional findings_Paediatric v0.2 SLC12A1 Zornitza Stark gene: SLC12A1 was added
gene: SLC12A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A1 were set to Bartter syndrome
Additional findings_Paediatric v0.2 SKI Zornitza Stark gene: SKI was added
gene: SKI was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SKI were set to Shprintzen-Goldberg syndrome
Additional findings_Paediatric v0.2 SIX3 Zornitza Stark gene: SIX3 was added
gene: SIX3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SIX3 were set to Holoprosencephaly-2
Additional findings_Paediatric v0.2 SIX1 Zornitza Stark gene: SIX1 was added
gene: SIX1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SIX1 were set to Branchiootorenal syndrome
Additional findings_Paediatric v0.2 SIL1 Zornitza Stark gene: SIL1 was added
gene: SIL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome