- Panels
- Genetic Epilepsy
- SV2B
Genes in panel
- 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
Regions in panel
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Genetic Epilepsy
Gene: SV2B Red List (low evidence)
SV2B (synaptic vesicle glycoprotein 2B)
EnsemblGeneIds (GRCh38): ENSG00000185518
EnsemblGeneIds (GRCh37): ENSG00000185518
OMIM: 185861, Gene2Phenotype
SV2B is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000185518
EnsemblGeneIds (GRCh37): ENSG00000185518
OMIM: 185861, Gene2Phenotype
SV2B is in 2 panels
2 reviews
Belinda Chong (Victorian Clinical Genetics Services)
Red List (low evidence)
Reviewed and still no patients directly attributed to variants in this gene.Created: 11 Dec 2023, 3:34 a.m. | Last Modified: 11 Dec 2023, 3:34 a.m.
Panel Version: 0.2019
Mode of inheritance
Unknown
Phenotypes
seizures
Publications
Created: 11 Dec 2023, 3:34 a.m.
Last Modified: 11 Dec 2023, 3:34 a.m.
Panel version: 0.2019
Last Modified: 11 Dec 2023, 3:34 a.m.
Panel version: 0.2019
Seb Lunke (Victorian Clinical Genetics Services)
Red List (low evidence)
Multiply described in Epilepsy studies investigating role of SV2 gene family, however no patients directly attributed to variants in this gene and mouse models indicate viability without seizures.
Sources: LiteratureCreated: 15 Jun 2020, 3:12 a.m.
Mode of inheritance
Unknown
Phenotypes
seizures
Publications
Created: 15 Jun 2020, 3:12 a.m.
Panel version: 0.727
Panel version: 0.727
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- seizures
- OMIM
- 185861
- Clinvar variants
- Variants in SV2B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
15 Jun 2020, Gel status: 1
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: sv2b has been classified as Red List (Low Evidence).
15 Jun 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)gene: SV2B was added gene: SV2B was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: SV2B was set to Unknown Publications for gene: SV2B were set to 23617838; 23937191 Phenotypes for gene: SV2B were set to seizures Review for gene: SV2B was set to RED