- Panels
- Genetic Epilepsy
- USP18
- AARS 2
- ABAT 1
- ABCA2 3
- ACOX1 1
- ACTB 1
- ACTG1 2
- ACTL6B 1
- ACY1 1
- ADAM22 2
- ADAR 1
- ADARB1 2
- ADGRG1 3
- ADNP 1
- ADPRHL2 2
- ADSL 1
- AFF3 1
- AGA 1
- AGMO 1
- AGO1 2
- AIMP1 1
- AJAP1 1
- AKT1 3
- AKT3 1
- ALDH3A2 1
- ALDH5A1 2
- ALDH7A1 3
- ALG1 1
- ALG11 1
- ALG13 1
- ALG14 1
- ALG3 1
- ALG6 1
- ALG8 2
- ALG9 1
- ALKBH8 1
- ALPL 2
- AMACR 1
- AMPD2 1
- AMT 1
- ANK2 1
- ANKRD11 2
- ANKRD17 2
- ANO4 1
- AP1G1 2
- AP2M1 1
- AP3B2 1
- AP4B1 1
- APC2 1
- ARF1 2
- ARF3 3
- ARFGEF1 1
- ARFGEF2 1
- ARG1 2
- ARHGEF9 1
- ARID1A 2
- ARID1B 1
- ARSA 2
- ARV1 1
- ARX 1
- ASAH1 2
- ASH1L 1
- ASNS 2
- ASPA 2
- ASPM 2
- ASTN1 1
- ASXL3 1
- ATAD1 1
- ATN1 3
- ATP13A2 1
- ATP1A1 1
- ATP1A2 2
- ATP1A3 3
- ATP2B1 2
- ATP2B2 1
- ATP5O 2
- ATP6AP2 2
- ATP6V0A1 2
- ATP6V0A2 1
- ATP6V0C 4
- ATP6V1A 2
- ATP6V1B2 2
- ATP7A 3
- ATRX 2
- B3GALNT2 1
- BAP1 2
- BCAS3 2
- BCKDHA 1
- BCKDHB 2
- BCKDK 1
- BCS1L 3
- BOLA3 1
- BPTF 2
- BRAF 1
- BRAT1 1
- BSCL2 1
- BSN 2
- BTD 2
- C12orf57 2
- C12orf66 2
- C2orf69 1
- CACNA1A 3
- CACNA1B 1
- CACNA1C 1
- CACNA1D 2
- CACNA1E 1
- CACNA1G 2
- CACNA1I 1
- CACNA2D1 3
- CACNA2D2 2
- CAD 1
- CAMK2A 2
- CAMK2B 1
- CAMSAP1 2
- CAPRIN1 3
- CARS2 1
- CASK 2
- CC2D2A 2
- CCDC88A 2
- CCDC88C 2
- CCT3 2
- CDK13 1
- CDK19 1
- CDKL5 3
- CELF2 1
- CEP85L 1
- CERS1 1
- CHD1 1
- CHD2 1
- CHD3 3
- CHD4 2
- CHD5 2
- CHKA 2
- CHRNA2 1
- CHRNA4 2
- CHRNB2 1
- CIC 2
- CLCN3 2
- CLCN4 2
- CLDN5 2
- CLN3 1
- CLN5 1
- CLN6 2
- CLN8 1
- CLPB 1
- CLTC 1
- CNKSR2 1
- CNNM2 1
- CNOT9 1
- CNPY3 2
- CNTN2 3
- CNTNAP2 1
- COG7 1
- COL18A1 1
- COL3A1 1
- COL4A1 2
- COL4A2 2
- COL4A3BP 1
- COQ2 1
- COQ4 1
- COQ8A 1
- COQ9 2
- COX11 2
- CPLX1 1
- CPSF3 2
- CPT1A 3
- CPT2 1
- CRADD 2
- CREBBP 1
- CRELD1 2
- CSF1R 1
- CSMD1 1
- CSNK2A1 1
- CSNK2B 3
- CSTB 3
- CTNNA2 1
- CTSD 1
- CTSF 1
- CTU2 1
- CUL4B 1
- CUX2 2
- CWF19L1 2
- CXorf56 1
- CYFIP2 1
- CYP27A1 1
- D2HGDH 1
- DBT 1
- DCX 1
- DDC 1
- DDX3X 1
- DEAF1 2
- DEGS1 1
- DENND5A 1
- DEPDC5 2
- DHCR24 2
- DHDDS 2
- DHPS 1
- DHRSX 1
- DHX16 1
- DHX30 2
- DIAPH1 2
- DIP2C 2
- DLG4 2
- DLL1 1
- DMXL2 1
- DNAJC5 2
- DNM1 2
- DNM1L 1
- DOCK7 1
- DOHH 1
- DOLK 1
- DPAGT1 1
- DPM1 2
- DPYD 3
- DYNC1H1 2
- DYRK1A 2
- EARS2 1
- ECHS1 1
- ECM1 2
- EEF1A2 2
- EEF1B2 2
- EEFSEC 1
- EFTUD2 2
- EHMT1 2
- EIF2AK2 1
- EIF2B1 3
- EIF2B2 2
- EIF2B3 1
- EIF2B4 2
- EIF2B5 2
- EIF2S3 2
- EIF3F 1
- EIF4A2 1
- ELOVL4 2
- EMC1 1
- EMC10 1
- EML1 2
- EP400 1
- EPB41L3 1
- EPG5 2
- EPM2A 1
- ESAM 2
- ETHE1 2
- EXOC7 2
- EXOSC3 2
- EXT2 1
- FA2H 1
- FARS2 1
- FASTKD2 2
- FBXL4 2
- FBXO11 1
- FBXO28 1
- FDFT1 2
- FGF12 1
- FGF13 1
- FGFR1 1
- FGFR3 2
- FH 2
- FKTN 2
- FLNA 1
- FLVCR1 1
- FOLR1 1
- FOXG1 2
- FOXP1 1
- FOXRED1 2
- FRMD5 1
- FRRS1L 1
- FUCA1 1
- FUK 1
- FUT8 2
- FZR1 2
- GABBR2 1
- GABRA1 2
- GABRA2 1
- GABRA3 1
- GABRA4 1
- GABRA5 1
- GABRB1 1
- GABRB2 2
- GABRB3 1
- GABRD 1
- GABRG2 1
- GAD1 1
- GALC 1
- GALNT2 1
- GAMT 1
- GBA 1
- GCDH 1
- GCH1 2
- GCSH 3
- GFAP 1
- GFM1 1
- GLB1 1
- GLDC 2
- GLI3 1
- GLRA2 1
- GLS 1
- GLUD1 1
- GLUL 2
- GLYCTK 2
- GM2A 1
- GMPPB 1
- GNAI1 1
- GNAO1 1
- GNAQ 2
- GNB1 1
- GNB5 2
- GOSR2 1
- GOT2 1
- GPAA1 2
- GPHN 3
- GPRC5B 1
- GPT2 1
- GRIA2 1
- GRIA3 1
- GRIA4 1
- GRIK2 2
- GRIN1 1
- GRIN2A 2
- GRIN2B 1
- GRIN2D 2
- GRM7 1
- GRN 1
- GSS 2
- GTF3C3 2
- GTPBP2 1
- GTPBP3 2
- H3F3A 2
- H3F3B 1
- HACE1 1
- HAX1 1
- HCFC1 3
- HCN1 1
- HCN2 1
- HDAC3 1
- HECTD1 1
- HECW2 3
- HEPACAM 1
- HERC2 2
- HEXA 1
- HEXB 1
- HID1 1
- HIVEP2 1
- HLCS 2
- HMGCL 1
- HNRNPH2 2
- HNRNPR 1
- HNRNPU 3
- HPDL 2
- HRAS 1
- HSD17B4 2
- HSPD1 1
- HTRA2 1
- IDH2 1
- IER3IP1 1
- IFIH1 2
- IKBKG 1
- INPP4A 1
- IQSEC2 2
- IRF2BPL 2
- ISCA1 1
- ISPD 3
- ITPA 2
- KANSL1 1
- KARS 2
- KAT5 2
- KAT6A 1
- KAT8 1
- KATNB1 2
- KCNA1 3
- KCNA2 2
- KCNA3 2
- KCNB1 1
- KCNC1 2
- KCNC2 2
- KCND1 1
- KCND2 2
- KCND3 1
- KCNH1 2
- KCNH5 2
- KCNJ10 1
- KCNJ11 1
- KCNK4 1
- KCNMA1 1
- KCNN2 2
- KCNQ2 3
- KCNQ3 1
- KCNQ5 1
- KCNT1 2
- KCNT2 3
- KCTD3 1
- KCTD7 2
- KDM4B 2
- KDM5C 1
- KIAA1109 2
- KIF1A 1
- KIF2A 1
- KIF5A 2
- KIF5C 1
- KLHL20 1
- KMT2A 1
- KMT2C 1
- KMT2D 2
- KMT2E 2
- KPTN 2
- KRAS 1
- KRIT1 1
- L2HGDH 1
- LAMA2 1
- LAMC3 2
- LARS 3
- LETM1 3
- LGI1 2
- LIAS 1
- LIG3 2
- LIPT2 1
- LMBRD2 2
- LNPK 2
- LSS 1
- MACF1 1
- MADD 2
- MAF 1
- MAP1B 2
- MAP2K1 1
- MAP2K2 1
- MARK2 1
- MAST1 1
- MAST3 2
- MAST4 1
- MBD5 1
- MBOAT7 2
- MDH2 2
- MECP2 2
- MED11 2
- MED12 2
- MED13L 3
- MED17 1
- MED27 3
- MEF2C 2
- MFF 1
- MFSD8 2
- MINPP1 1
- MLC1 1
- MMACHC 1
- MMADHC 1
- MOCS1 3
- MOCS2 2
- MOGS 3
- MPDU1 1
- MTHFR 2
- MTHFS 1
- MTOR 1
- MTR 2
- MYCBP2 2
- MYT1L 1
- NAA10 5
- NACC1 2
- NAGLU 3
- NALCN 1
- NAPB 1
- NARS 2
- NARS2 2
- NBEA 1
- NCDN 2
- NDE1 2
- NDST1 1
- NDUFA1 2
- NDUFAF2 2
- NDUFAF5 2
- NDUFS4 1
- NDUFS8 2
- NDUFV1 2
- NEDD4L 1
- NEU1 2
- NEUROD2 1
- NEXMIF 2
- NGLY1 2
- NHLRC1 1
- NOTCH3 2
- NOVA2 3
- NPRL2 1
- NPRL3 1
- NR2F1 1
- NR4A2 2
- NRROS 2
- NRXN1 1
- NSD1 2
- NSDHL 2
- NSRP1 2
- NTRK2 1
- NUP214 2
- NUS1 2
- OCLN 1
- OGDHL 2
- OPHN1 1
- OSGEP 2
- OTUD6B 1
- OXR1 1
- P4HTM 1
- PABPC1 1
- PACS1 2
- PACS2 2
- PAFAH1B1 1
- PAH 3
- PAK1 1
- PARP6 1
- PARS2 1
- PCCA 2
- PCCB 2
- PCDH12 2
- PCDH19 2
- PCDHGC4 1
- PCYT2 2
- PDCD10 2
- PDE2A 2
- PDHA1 2
- PDHX 2
- PET100 1
- PEX1 2
- PEX10 2
- PEX12 2
- PEX13 1
- PEX19 2
- PEX2 2
- PEX26 2
- PEX3 1
- PEX5 1
- PEX6 2
- PEX7 1
- PGAP3 1
- PGM2L1 1
- PHACTR1 1
- PHF6 2
- PHGDH 1
- PI4K2A 1
- PIDD1 2
- PIGA 2
- PIGB 1
- PIGC 1
- PIGG 1
- PIGH 1
- PIGK 1
- PIGN 1
- PIGO 1
- PIGP 2
- PIGQ 2
- PIGS 1
- PIGT 1
- PIGU 1
- PIGV 1
- PIGW 1
- PIK3CA 1
- PIK3R2 1
- PIP5K1C 1
- PLA2G6 1
- PLAA 1
- PLCB1 2
- PLK1 1
- PLP1 1
- PLPBP 2
- PLXNA1 1
- PMM2 2
- PMPCB 1
- PNKP 1
- PNPLA8 1
- PNPO 1
- PNPT1 4
- POGZ 1
- POLG 2
- POLR3B 3
- POMGNT1 1
- POMT1 1
- PPFIA3 1
- PPFIBP1 2
- PPIL1 1
- PPP1R3F 1
- PPP2CA 1
- PPP2R1A 2
- PPP2R5D 1
- PPP3CA 1
- PPT1 1
- PRMT7 1
- PRODH 1
- PRPF8 2
- PRRT2 2
- PRUNE1 1
- PSAP 2
- PTEN 1
- PTPN23 1
- PTS 1
- PUM1 1
- PURA 1
- PUS3 1
- QARS 1
- QDPR 1
- RAB11B 1
- RAB18 1
- RAB39B 1
- RAB5C 1
- RAC3 2
- RAI1 1
- RALA 1
- RALGAPA1 1
- RANBP2 1
- RARS 1
- RARS2 3
- RBFOX1 1
- RELN 3
- RERE 1
- RFT1 1
- RHOBTB2 2
- RMND1 1
- RNASEH2A 1
- RNASEH2B 1
- RNASEH2C 1
- RNASET2 1
- RNF113A 1
- RNF13 1
- RNH1 3
- RNU2-2P 1
- RNU4ATAC 2
- ROGDI 1
- RORA 1
- RORB 3
- RPH3A 1
- RPS6KA3 1
- RRM2B 1
- RTN4IP1 1
- RTTN 2
- SAMHD1 1
- SART3 2
- SATB1 3
- SATB2 1
- SCAF4 2
- SCAMP5 1
- SCARB2 2
- SCN1A 4
- SCN1B 1
- SCN2A 1
- SCN3A 1
- SCN8A 3
- SCO2 3
- SECISBP2 1
- SEMA6B 2
- SEPSECS 2
- SERAC1 1
- SERPINI1 3
- SETBP1 1
- SETD1A 1
- SETD1B 1
- SETD5 1
- SGCE 1
- SGSH 1
- SHANK3 1
- SHH 2
- SHROOM4 1
- SIK1 2
- SLC12A5 2
- SLC13A3 1
- SLC13A5 2
- SLC16A2 1
- SLC19A3 1
- SLC1A2 1
- SLC1A3 1
- SLC1A4 1
- SLC25A1 2
- SLC25A12 1
- SLC25A22 1
- SLC2A1 2
- SLC32A1 2
- SLC35A2 1
- SLC38A3 2
- SLC39A8 1
- SLC46A1 2
- SLC5A6 1
- SLC6A1 2
- SLC6A19 1
- SLC6A8 1
- SLC9A6 1
- SLITRK2 2
- SMARCA2 1
- SMARCB1 2
- SMARCC2 1
- SMC1A 2
- SMS 1
- SNAP25 2
- SNAP29 1
- SNF8 2
- SNORD118 1
- SNX27 1
- SON 1
- SP9 1
- SPATA5 1
- SPATA5L1 2
- SPR 1
- SPTAN1 3
- SPTBN1 2
- SPTBN4 2
- SRCAP 1
- ST3GAL5 1
- STAG1 1
- STAMBP 1
- STRADA 1
- STX1A 2
- STX1B 1
- STXBP1 3
- SUCLA2 1
- SUOX 1
- SURF1 2
- SYN1 1
- SYNGAP1 1
- SYNJ1 1
- SZT2 1
- TAF8 1
- TANC2 1
- TANGO2 1
- TARS2 2
- TBC1D24 1
- TBC1D2B 2
- TBCD 1
- TBCK 1
- TBL1XR1 1
- TBX19 2
- TCF4 1
- TCP1 2
- TDP2 1
- TEFM 1
- TET3 2
- TFE3 1
- TIAM1 1
- TIMM50 1
- TK2 1
- TMEM163 2
- TMEM222 2
- TMEM63B 1
- TMTC3 2
- TMX2 1
- TNPO2 2
- TPK1 1
- TPP1 2
- TRA2B 2
- TRAK1 1
- TRAPPC10 2
- TRAPPC12 2
- TRAPPC4 1
- TRAPPC6B 1
- TREM2 1
- TREX1 2
- TRIM8 1
- TRIO 1
- TRIT1 1
- TRMT1 1
- TRMT10A 1
- TRPM3 1
- TRPM6 2
- TRPM7 1
- TRRAP 2
- TSC1 1
- TSC2 1
- TSEN2 2
- TSEN54 2
- TSFM 1
- TSPYL1 4
- TUBA1A 3
- TUBB 1
- TUBB2A 3
- TUBB2B 1
- TUBB3 1
- TUBB4A 1
- TUBG1 1
- TUBGCP2 1
- TUBGCP6 2
- TWNK 1
- U2AF2 4
- UBA5 1
- UBAP2L 2
- UBE2A 1
- UBE3A 2
- UBR5 1
- UBR7 1
- UFM1 1
- UFSP2 2
- UGDH 2
- UGP2 1
- UMPS 2
- UNC13A 1
- UNC79 1
- UNC80 1
- USP18 1
- USP25 1
- VAMP2 1
- VARS 1
- VARS2 2
- VPS11 1
- VPS13A 1
- VPS4A 3
- VPS50 3
- WAC 1
- WARS2 1
- WASF1 1
- WDR26 2
- WDR37 1
- WDR45 2
- WDR45B 1
- WDR47 1
- WDR62 1
- WDR73 1
- WNK3 2
- WWOX 2
- YIF1B 2
- YIPF5 1
- YWHAG 2
- ZBTB18 2
- ZBTB47 1
- ZDHHC9 2
- ZEB2 2
- ZFHX3 1
- ZMYND11 2
- ZMYND8 1
- ZNF142 1
- ZNF335 1
- ZNF526 2
- ZNHIT3 1
- ZSWIM6 1
- AARS2 1
- ABHD16A 2
- ADAT3 1
- ADGRL1 2
- ADGRV1 2
- AP3D1 2
- AQP4 2
- ATP5A1 3
- ATP5E 1
- B4GAT1 1
- BICD2 1
- CACNB4 1
- CAMK2D 1
- CCT6A 1
- CDC42BPB 2
- CDK5 1
- COG3 2
- COG4 1
- COG6 1
- COG8 2
- COLGALT1 2
- COQ6 2
- COX10 1
- COX15 1
- CP 1
- CUL3 2
- DALRD3 2
- DARS2 2
- DHFR 1
- DNAJC6 2
- DPM2 1
- DROSHA 1
- DTYMK 1
- EMX2 1
- FAM50A 2
- FAR1 1
- FKRP 2
- FRA10AC1 1
- GATAD2B 1
- GATM 1
- GMPPA 1
- GPSM2 1
- HCCS 1
- HDAC8 1
- HEATR5B 2
- HNRNPK 1
- HOXA1 1
- HPRT1 2
- JAKMIP1 1
- JMJD1C 1
- KCNB2 1
- KCNJ3 1
- KIF4A 2
- LARGE1 2
- LMNB1 3
- LMNB2 1
- LRPPRC 1
- LYST 2
- MANBA 1
- MAPK8IP3 2
- MDH1 2
- MICAL1 1
- NAGA 3
- NDUFA2 2
- NDUFA8 3
- NDUFAF3 2
- NDUFAF4 2
- NDUFS1 2
- NDUFS2 2
- NDUFS6 2
- NDUFS7 2
- NDUFV2 2
- NECAP1 2
- NF1 1
- NSF 1
- NUBPL 2
- OFD1 1
- OTUD5 2
- OTUD7A 3
- OTX2 2
- PAK2 2
- PAK3 1
- PAX6 1
- PDSS2 2
- PGAP2 1
- PGM3 3
- PIK3C2B 1
- POLG2 2
- POLR1A 1
- POMGNT2 2
- POMK 2
- POMT2 1
- POU3F3 2
- PPP1CB 3
- PPP2R2B 1
- PRICKLE2 3
- PSAT1 2
- PSPH 2
- PTF1A 1
- RAB3GAP1 1
- RAB3GAP2 1
- RALGAPB 2
- RBFOX3 1
- RBL2 3
- RNF2 2
- RPIA 2
- RUSC2 1
- RYR3 2
- SACS 1
- SCO1 1
- SDHA 1
- SIX3 1
- SLC31A1 2
- SLC35A1 1
- SLC35A3 1
- SLC45A1 1
- SNIP1 2
- SPEN 5
- SRD5A3 1
- ST3GAL3 1
- SUCLG1 2
- SV2A 2
- SYNCRIP 3
- TBC1D20 1
- TCEAL1 3
- THG1L 2
- THOC2 1
- TLK2 1
- TMEM106B 2
- TMEM70 1
- TNK2 2
- TRAF7 1
- TRIP12 1
- TRIP13 2
- TSEN15 1
- UBTF 1
- VLDLR 1
- XPR1 1
- ZMIZ1 2
- ADCY5 2
- ADRA2B 1
- AFDN 1
- AFG3L2 2
- AGO3 1
- ALG10 1
- ALG12 1
- ALG2 2
- ALX4 2
- ATP5G3 2
- AUTS2 1
- BCL11A 1
- BET1 2
- C19orf12 1
- CAMLG 1
- CAMTA1 1
- CCDC186 1
- CCDC22 1
- CCM2 2
- CCND2 1
- CENPF 1
- CHRM1 2
- CHRNA7 1
- CLASP1 1
- CLCN2 3
- CPA6 3
- CSNK1E 1
- DAB1 3
- DAG1 1
- DNAH14 2
- EED 1
- EFHC1 3
- EXOSC8 1
- FIG4 1
- GABBR1 2
- GABRA6 2
- GABRG1 1
- GRIA1 1
- GUF1 1
- HCN4 1
- IARS2 1
- IBA57 1
- IDH1 1
- INTS8 1
- ITGB4 1
- JARID2 1
- KCNAB3 2
- KCNIP4 1
- KCNN3 3
- KCTD13 2
- KDM5A 1
- KDM6A 1
- KIF1BP 2
- KMT2B 1
- KPNA7 2
- LMX1B 1
- MAGI2 1
- MCM3AP 1
- MMS19 1
- NAT8L 3
- NDP 2
- NDUFA10 2
- NDUFA11 1
- NDUFA6 1
- OCRL 1
- ODC1 3
- OGT 3
- OSTC 2
- PANK2 1
- PCLO 1
- PIGF 1
- PLXNC1 1
- PRDM8 1
- PRICKLE1 2
- PRIMA1 1
- PTBP1 1
- PTCH1 1
- RAB11A 1
- SCN10A 1
- SCN9A 3
- SLC22A5 2
- SLC4A4 1
- SLC7A6OS 1
- SMARCA4 2
- SMARCE1 1
- SOX11 1
- STAT3 1
- SUMF1 1
- SV2B 2
- SYNE1 1
- TAF1C 1
- TAOK1 1
- TBC1D7 1
- TGIF1 1
- TMEM5 1
- TNRC6A 1
- TRAPPC2L 3
- TRPC3 2
- TSEN34 2
- TUBA8 1
- UGGT1 1
- UNC13B 2
- WASHC4 1
- WDFY3 1
- YEATS2 1
- ZDHHC15 3
- ZIC2 1
- RAPGEF2 1
- SAMD12 3
- STARD7 2
Genetic Epilepsy
Gene: USP18 Green List (high evidence)EnsemblGeneIds (GRCh38): ENSG00000184979
EnsemblGeneIds (GRCh37): ENSG00000184979
OMIM: 607057, Gene2Phenotype
USP18 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Green List (high evidence)
- PMID: 27325888 (2016) - Three sibs from a consanguineous Turkish family with a homozygous variant (c.652C>T, p.Q218X) in USP18. Antenatal presentation in one sib led to termination of pregnancy at 22 wk of gestation, and in the remaining two children presentation was neonatal and resulted in death within 2 weeks of life. In the latter two individuals manifestations included severe intracerebral haemorrhages, liver dysfunction, ascites, and lactic acidosis. One sib additionally had severe thrombocytopenia with petechiae, while the other developed seizures.
Two German sibs, previously reported in PMID: 12833411 (2013), were found to be compound het for the same p.Q218X variant and a cryptic 3-prime deletion of the USP18 gene. They presented thrombocytopenia, petechiae, ascites, hepatomegaly, and systemic calcifications. Within the first days of life, they developed seizures and died from severe cerebral haemorrhage.
Haplotype analysis of the region containing the Q218X mutation suggested a common ancestor between the 2 families and a founder effect.
- PMID: 31940699 (2020) - One Saudi Arabian boy with a homozygous splice-site variant (c.1073+1G>A) in USP18, presented hydrocephalus with seizures, intraventricular haemorrhage, brain calcifications, necrotizing cellulitis, systemic inflammation, multiple organ failure, and respiratory failure. This was the only patient to survive beyond the perinatal period owing to supportive care and prompt treatment with ruxolitinib. At the time of publication, the child was 3-years-old and was in full remission of clinical manifestations while continuing to receive oral ruxolitinib. He continues to grow normally, however authors note delay in developmental milestones.
Sources: Expert ReviewCreated: 24 Aug 2023, 6:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudo-TORCH syndrome 2, MIM#617397
Publications
Panel version: 0.1898
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Pseudo-TORCH syndrome 2, MIM#617397
- Tags
- treatable
- OMIM
- 607057
- Clinvar variants
- Variants in USP18
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: usp18 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: usp18 has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: USP18 was added gene: USP18 was added to Genetic Epilepsy. Sources: Expert Review treatable tags were added to gene: USP18. Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP18 were set to 12833411; 27325888; 31940699 Phenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2, MIM#617397 Review for gene: USP18 was set to GREEN