- Panels
- Genetic Epilepsy
- SHROOM4
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: SHROOM4 Green List (high evidence)
SHROOM4 (shroom family member 4)
EnsemblGeneIds (GRCh38): ENSG00000158352
EnsemblGeneIds (GRCh37): ENSG00000158352
OMIM: 300579, Gene2Phenotype
SHROOM4 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000158352
EnsemblGeneIds (GRCh37): ENSG00000158352
OMIM: 300579, Gene2Phenotype
SHROOM4 is in 5 panels
1 review
Alison Yeung (Victorian Clinical Genetics Services)
Green List (high evidence)
Six unrelated cases with idiopathic epilepsy without intellectual disability. SHROOM4 variants were all missense variants and were located around the N-terminal PDZ domain and the C-terminal ASD2 domain
Sources: LiteratureCreated: 1 Dec 2022, 3:45 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
epilepsy, idiopathic generalised, SHROOM4-related, MONDO:0005579
Publications
Created: 1 Dec 2022, 3:45 a.m.
Panel version: 0.1808
Panel version: 0.1808
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- epilepsy, idiopathic generalised, SHROOM4-related, MONDO:0005579
- OMIM
- 300579
- Clinvar variants
- Variants in SHROOM4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
16 May 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: shroom4 has been classified as Green List (High Evidence).
1 Dec 2022, Gel status: 3
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: shroom4 has been classified as Green List (High Evidence).
1 Dec 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Alison Yeung (Victorian Clinical Genetics Services)gene: SHROOM4 was added gene: SHROOM4 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SHROOM4 were set to 35663265 Phenotypes for gene: SHROOM4 were set to epilepsy, idiopathic generalised, SHROOM4-related, MONDO:0005579 Review for gene: SHROOM4 was set to GREEN