- Panels
- Genetic Epilepsy
- EP400
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: EP400 Green List (high evidence)
EP400 (E1A binding protein p400)
EnsemblGeneIds (GRCh38): ENSG00000183495
EnsemblGeneIds (GRCh37): ENSG00000183495
OMIM: 606265, Gene2Phenotype
EP400 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000183495
EnsemblGeneIds (GRCh37): ENSG00000183495
OMIM: 606265, Gene2Phenotype
EP400 is in 3 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Green List (high evidence)
6 unrelated probands presenting with epilepsy with NDD had compound heterozygous variants in EP400. They were confirmed in trans and inherited from their asymptomatic parents.
Knockdown of EP400 ortholog in Drosophila showed an increase in seizure-like susceptibility and abnormal neurological behaviour.
Sources: LiteratureCreated: 8 Jan 2025, 5:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental disorder with or without early-onset generalized epilepsy - MONDO:0030930
Publications
Created: 8 Jan 2025, 5:41 a.m.
Panel version: 1.89
Panel version: 1.89
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- neurodevelopmental disorder with or without early-onset generalized epilepsy - MONDO:0030930
- OMIM
- 606265
- Clinvar variants
- Variants in EP400
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
8 Jan 2025, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ep400 has been classified as Green List (High Evidence).
8 Jan 2025, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ep400 has been classified as Green List (High Evidence).
8 Jan 2025, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: EP400 was added gene: EP400 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: EP400 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EP400 were set to 39708813 Phenotypes for gene: EP400 were set to neurodevelopmental disorder with or without early-onset generalized epilepsy - MONDO:0030930 Review for gene: EP400 was set to GREEN