- Panels
- Genetic Epilepsy
- CLCN4
- 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: CLCN4 Green List (high evidence)EnsemblGeneIds (GRCh38): ENSG00000073464
EnsemblGeneIds (GRCh37): ENSG00000073464
OMIM: 302910, Gene2Phenotype
CLCN4 is in 7 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Green List (high evidence)
Raynaud-Claes syndrome is an X-linked intellectual developmental disorder characterized by borderline to severe intellectual disability and impaired language development. Additional features include behavioral problems, psychiatric disorders, seizures (variable forms), progressive ataxia, brain abnormalities, and facial dysmorphisms. Some heterozygous females are unaffected, whereas others are affected with a severity spectrum similar to that seen in males.
Pathogenic missense variants are rare, have supportive in silico pathogenicity scores and alter electrophysiological model in Xenopus oocytes. To date all loss of function variant are causal of a neurocognitive phenotype.Created: 5 Mar 2021, 4:49 a.m. | Last Modified: 5 Mar 2021, 4:49 a.m.
Panel Version: 0.6569
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Raynaud-Claes syndrome, MIM#300114; intellectual disability; epilepsy; autistic features; mood disorders; cerebral white matter changes; progressive appendicular spasticity
Publications
Last Modified: 5 Mar 2021, 4:49 a.m.
Panel version: Imported from Mendeliome panel version 0.6569
Elizabeth Palmer (University of New South Wales)
Green List (high evidence)
epilepsy common in CLCN4 related disorder and can range from epileptic encephalopathy to well controlled seizures. Heterozygous females can be as severely affected as males.
NB in addition to the 16 families published we have over 40 additional families in our CLCN4 database. Pathogenic missense variants are rare, have supportive in silico pathogenicity scores and alter electrophysiological model in Xenopus oocytes. To date all loss of function variant are causal of a neurocognitive phenotype.Created: 19 Dec 2019, 5:25 a.m. | Last Modified: 19 Dec 2019, 5:25 a.m.
Panel Version: 0.46
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
intellectual disability; epilepsy; autistic features; mood disorders; cerebral white matter changes; progressive appendicular spasticity
Publications
- (PMID: 27550844)
Last Modified: 19 Dec 2019, 5:25 a.m.
Panel version: 0.46
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Epilepsy Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Raynaud-Claes syndrome, MIM#300114
- intellectual disability
- epilepsy
- autistic features
- mood disorders
- cerebral white matter changes
- progressive appendicular spasticity
- OMIM
- 302910
- Clinvar variants
- Variants in CLCN4
- 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: clcn4 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CLCN4 were changed from to Raynaud-Claes syndrome, MIM#300114; intellectual disability; epilepsy; autistic features; mood disorders; cerebral white matter changes; progressive appendicular spasticity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CLCN4 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CLCN4 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CLCN4 was added gene: CLCN4 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CLCN4 was set to Unknown