Genes in panel
- AARS 4
- AASS 2
- ABAT 6
- ACOX1 5
- ACTL6B 3
- ADAR 4
- ADARB1 2
- ADGRG1 4
- ADPRHL2 6
- ADSL 6
- AFF3 5
- AGO1 2
- AIMP1 4
- AKT3 4
- ALDH5A1 4
- ALDH7A1 9
- ALG1 4
- ALG11 3
- ALG13 7
- ALG14 2
- ALG3 4
- ALG6 4
- ALG8 5
- ALG9 4
- ALKBH8 7
- ALPL 6
- AMPD2 4
- AMT 4
- ANK2 1
- ANKRD11 5
- ANO4 2
- AP1G1 2
- AP2M1 4
- AP3B2 4
- APC2 4
- ARF1 3
- ARF3 4
- ARFGEF1 4
- ARFGEF2 4
- ARG1 3
- ARHGEF9 8
- ARID1B 5
- ARV1 5
- ARX 7
- ASAH1 3
- ASH1L 3
- ASL 2
- ASNS 3
- ASPA 4
- ASXL3 3
- ATN1 4
- ATP1A1 4
- ATP1A2 9
- ATP1A3 7
- ATP5O 6
- ATP6V0A1 5
- ATP6V0A2 3
- ATP6V0C 5
- ATP6V1A 4
- ATP7A 4
- ATRX 8
- BAP1 2
- BCKDHA 4
- BCKDHB 4
- BCS1L 4
- BOLA3 4
- BRAF 4
- BRAT1 3
- BRSK1 3
- BSCL2 3
- BTD 8
- C12orf57 4
- C12orf66 3
- C2orf69 3
- CACNA1A 10
- CACNA1B 4
- CACNA1C 2
- CACNA1D 4
- CACNA1E 5
- CACNA1G 3
- CACNA1I 4
- CACNA2D2 7
- CAD 3
- CAMSAP1 1
- CAPRIN1 4
- CARS2 2
- CASK 8
- CC2D2A 4
- CCDC88A 7
- CDK19 3
- CDK5 2
- CDKL5 7
- CELF2 4
- CEP85L 4
- CERS1 6
- CHD2 8
- CHD4 3
- CHD5 3
- CHKA 3
- CHRNA2 10
- CHRNA4 9
- CHRNB2 10
- CIC 3
- CLCN3 2
- CLCN4 4
- CLDN5 3
- CLN3 8
- CLN8 7
- CLPB 4
- CLTC 3
- CNKSR2 4
- CNNM2 3
- CNOT9 2
- CNPY3 5
- CNTN2 5
- CNTNAP2 8
- COG7 4
- COL18A1 4
- COL4A1 8
- COL4A2 8
- COL4A3BP 2
- COQ2 4
- COQ4 4
- COQ9 4
- CPLX1 3
- CREBBP 4
- CRELD1 6
- CRNKL1 3
- CSNK2B 4
- CSTB 9
- CTNNA2 4
- CTSD 7
- CTSF 4
- CUL3 3
- CUL4B 2
- CUX1 1
- CUX2 6
- CYFIP2 4
- D2HGDH 3
- DBT 3
- DCX 4
- DDC 2
- DDX3X 3
- DEAF1 7
- DEGS1 3
- DENND5A 3
- DEPDC5 10
- DHDDS 4
- DHPS 4
- DHX30 3
- DIAPH1 2
- DLL1 4
- DMXL2 5
- DNAJC6 6
- DNM1 8
- DNM1L 3
- DOCK7 7
- DOLK 6
- DPAGT1 3
- DPH5 3
- DPM1 3
- DPYD 3
- DROSHA 3
- DTYMK 3
- DYNC1H1 3
- DYRK1A 7
- EARS2 3
- EEF1A2 9
- EEFSEC 1
- EFTUD2 3
- EHMT1 7
- EIF2B1 4
- EIF2B2 3
- EIF2B3 4
- EIF2B4 3
- EIF2B5 3
- EIF2S3 3
- EIF3F 4
- EIF4A2 2
- ELFN1 2
- EMC10 3
- EML1 2
- ENTPD1 3
- EPB41L3 3
- EPG5 3
- EPM2A 7
- ESAM 3
- ETHE1 3
- EXOSC3 3
- EXT2 4
- FAR1 6
- FARS2 3
- FASTKD2 5
- FBXL4 5
- FBXO11 4
- FBXO28 3
- FGF12 4
- FGF13 2
- FGFR3 6
- FKTN 4
- FLNA 6
- FLVCR1 2
- FOLR1 4
- FOXG1 7
- FOXRED1 5
- FRMD5 1
- FRRS1L 4
- FUCA1 4
- FUK 7
- FUT8 5
- FZR1 2
- GABBR2 8
- GABRA1 8
- GABRA2 3
- GABRA5 3
- GABRB1 5
- GABRB2 4
- GABRB3 7
- GABRD 10
- GABRG2 10
- GAD1 3
- GALC 4
- GALNT2 2
- GAMT 8
- GBA 5
- GCSH 6
- GFAP 4
- GLB1 4
- GLDC 4
- GLRA2 3
- GLS 3
- GLUD1 4
- GLUL 5
- GM2A 4
- GNAO1 7
- GNAQ 5
- GNB1 5
- GNB5 4
- GOSR2 8
- GOT2 5
- GPAA1 3
- GPHN 9
- GRIA2 6
- GRIA4 4
- GRIK2 6
- GRIN1 8
- GRIN2A 7
- GRIN2B 7
- GRIN2D 5
- GRM7 3
- GRN 2
- GTF3C3 5
- GTPBP2 5
- H3F3A 7
- H3F3B 8
- HACE1 3
- HAX1 4
- HCFC1 4
- HCN1 7
- HCN2 7
- HECTD4 3
- HECW2 3
- HEPACAM 5
- HERC2 3
- HEXA 4
- HEXB 4
- HID1 3
- HMGCL 3
- HNRNPH2 3
- HNRNPR 6
- HNRNPU 7
- HPDL 3
- HRAS 4
- HSD17B10 2
- HSD17B4 4
- HTRA2 3
- IER3IP1 3
- IFIH1 3
- IKBKG 5
- INPP4A 7
- IQSEC2 7
- IRF2BPL 5
- ITPA 3
- KARS 5
- KAT5 7
- KAT8 6
- KCNA1 8
- KCNA2 8
- KCNA3 2
- KCNB1 7
- KCNC1 8
- KCNC2 4
- KCND2 7
- KCND3 3
- KCNH1 1
- KCNH5 7
- KCNJ10 7
- KCNJ11 4
- KCNK4 4
- KCNMA1 13
- KCNQ2 7
- KCNQ3 7
- KCNQ5 5
- KCNT1 8
- KCNT2 6
- KCTD3 4
- KCTD7 7
- KDM6B 3
- KIAA1109 5
- KIF1A 4
- KIF2A 3
- KIF5C 4
- KLHL20 3
- KMT2E 5
- KPTN 5
- KRAS 4
- LAMC3 1
- LARS 3
- LETM1 3
- LGI1 11
- LIAS 4
- LMBRD2 4
- LNPK 6
- LSS 5
- MACF1 4
- MADD 3
- MAF 3
- MAP2K1 4
- MAP2K2 4
- MARK2 3
- MAST3 2
- MAST4 3
- MBD5 7
- MBOAT7 3
- MDH2 3
- MECP2 8
- MED11 2
- MED12 7
- MED27 1
- MEF2C 7
- MFF 3
- MFSD8 8
- MINPP1 2
- MLC1 3
- MMACHC 3
- MMADHC 3
- MOCS1 8
- MOCS2 8
- MOGS 3
- MPDU1 3
- MTHFR 4
- MTHFS 3
- MTOR 4
- MT-TK 2
- NACC1 2
- NAGA 4
- NAPB 2
- NARS 3
- NARS2 4
- NBEA 3
- NDE1 4
- NDUFA1 4
- NDUFA10 4
- NDUFAF2 4
- NDUFAF5 4
- NDUFS4 4
- NDUFS8 4
- NDUFV1 5
- NEDD4L 5
- NEUROD2 2
- NEXMIF 8
- NGLY1 4
- NHLRC1 8
- NOTCH3 1
- NPRL2 9
- NPRL3 5
- NR4A2 3
- NRROS 1
- NRXN1 9
- NSD1 4
- NSDHL 4
- NSRP1 2
- NTRK2 3
- NUP214 3
- NUS1 3
- OCLN 4
- OGDHL 3
- OPHN1 4
- OTUD6B 3
- OTUD7A 5
- OXR1 3
- P4HTM 4
- PABPC1 4
- PACS1 5
- PACS2 5
- PAFAH1B1 4
- PAH 4
- PAK1 4
- PARS2 3
- PCCA 4
- PCCB 4
- PCDH12 6
- PCDH19 8
- PCDHGC4 2
- PCYT2 5
- PDHA1 4
- PDHX 4
- PET100 3
- PGM2L1 2
- PHACTR1 4
- PHGDH 4
- PI4K2A 3
- PIDD1 2
- PIGA 8
- PIGB 4
- PIGC 4
- PIGG 4
- PIGH 5
- PIGK 3
- PIGM 5
- PIGN 3
- PIGO 4
- PIGP 5
- PIGQ 12
- PIGT 3
- PIGU 2
- PIGW 5
- PIK3R2 4
- PIP5K1C 2
- PLA2G6 3
- PLAA 4
- PLCB1 7
- PLK1 4
- PLPBP 4
- PLXNA1 2
- PMM2 4
- PMPCB 4
- PNKP 7
- PNPLA8 2
- PNPO 8
- PNPT1 3
- POLG 8
- POMGNT1 4
- POMT1 4
- PPFIBP1 3
- PPIL1 2
- PPOX 2
- PPP1R3F 3
- PPP2CA 4
- PPP2R2B 2
- PPP2R5C 2
- PPP3CA 4
- PPT1 9
- PRMT7 3
- PRPF8 3
- PRRT2 8
- PSAP 4
- PTCD3 3
- PTEN 5
- PTPN23 4
- PTS 4
- PUM1 4
- PURA 7
- QARS 8
- RAB11B 5
- RAB18 4
- RAB5C 3
- RAC3 3
- RALA 5
- RALGAPA1 4
- RARS 3
- RARS2 4
- RELN 4
- RFT1 4
- RHEB 3
- RHOBTB2 4
- RMND1 4
- RNASEH2A 3
- RNASEH2B 4
- RNASEH2C 3
- RNASET2 4
- RNF113A 3
- RNF13 7
- RNU2-2P 2
- RNU4-2 5
- RNU5B-1 2
- ROGDI 4
- RORA 5
- RORB 4
- RTN4IP1 3
- RTTN 4
- SAMHD1 3
- SARS 3
- SATB1 1
- SATB2 3
- SCAF4 2
- SCAMP5 5
- SCARB2 7
- SCN1A 8
- SCN1B 9
- SCN2A 8
- SCN3A 3
- SCN8A 12
- SEMA6B 6
- SEPSECS 4
- SERPINI1 3
- SETBP1 5
- SETD1A 3
- SETD1B 5
- SETD5 10
- SGSH 1
- SHQ1 3
- SIK1 7
- SLC12A5 8
- SLC13A3 3
- SLC13A5 7
- SLC16A2 8
- SLC1A2 5
- SLC1A4 4
- SLC25A1 3
- SLC25A12 6
- SLC25A22 7
- SLC2A1 9
- SLC32A1 5
- SLC35A2 4
- SLC38A3 3
- SLC39A8 3
- SLC4A10 3
- SLC6A1 7
- SLC6A8 8
- SLC9A6 7
- SMARCA2 3
- SMARCC2 3
- SMC1A 5
- SMS 8
- SNAP25 4
- SNIP1 7
- SNORD118 4
- SPATA5 5
- SPATA5L1 4
- SPOUT1 2
- SPTAN1 7
- SPTBN1 2
- ST3GAL3 9
- ST3GAL5 4
- STAG1 4
- STAMBP 4
- STRADA 3
- STX1B 7
- STXBP1 10
- SUCLA2 3
- SUOX 3
- SURF1 3
- SYN1 3
- SYNGAP1 6
- SYNJ1 2
- SZT2 6
- TAF8 2
- TANGO2 4
- TARS2 2
- TBC1D24 8
- TBC1D2B 3
- TBCD 3
- TBCK 3
- TBL1XR1 7
- TCF4 7
- TDP2 3
- TFE3 6
- TIAM1 3
- TIMM50 6
- TMEM167A 2
- TMEM222 3
- TMEM63B 3
- TMX2 5
- TNPO2 1
- TPP1 8
- TRA2B 3
- TRAK1 3
- TRAPPC12 5
- TRAPPC4 5
- TREX1 3
- TRIM8 4
- TRIT1 1
- TRPM3 7
- TRPM6 3
- TRPM7 2
- TSC1 5
- TSC2 4
- TSEN54 3
- TUBA1A 3
- TUBB2A 5
- TUBB2B 3
- TUBB3 3
- TUBB4A 4
- TUBG1 4
- TUBGCP2 2
- U2AF2 5
- UBA5 4
- UBAP2L 3
- UBE2A 7
- UBE3A 7
- UBR5 1
- UBR7 2
- UFM1 4
- UFSP2 3
- UGDH 3
- UGGT1 2
- UGP2 5
- UNC13A 1
- UNC80 4
- USP18 2
- VAMP2 4
- VARS 5
- VPS11 4
- WARS2 4
- WASF1 3
- WDR37 2
- WDR45 7
- WDR45B 4
- WDR47 1
- WDR73 4
- WNK3 4
- WWOX 6
- YIPF5 2
- YWHAG 4
- ZBTB18 4
- ZBTB47 3
- ZDHHC9 4
- ZEB2 6
- ZNF142 5
- ZNF335 2
- ZNFX1 2
- ABCA2 3
- ABI2 1
- ADAM22 4
- ADAT3 4
- ADD1 2
- ADGRL1 1
- AIMP2 6
- AJAP1 2
- AMACR 1
- ASTN1 3
- ATP2B1 4
- ATP5A1 5
- ATP6AP2 3
- BAIAP2 2
- BLOC1S1 2
- BORCS5 1
- BORCS8 2
- BSN 2
- CACNA1H 8
- CACNA2D1 3
- CAMK2D 1
- CCDC88C 3
- CCT8 1
- CDC42BPB 3
- CELF4 1
- CELSR3 1
- CLN6 6
- COG3 2
- COG4 4
- COG6 4
- COG8 4
- COLGALT1 2
- COQ6 3
- COX10 4
- COX11 3
- COX15 4
- CPSF3 2
- CSNK1G1 8
- CTU2 1
- CYP27A1 4
- DALRD3 2
- DENND5B 1
- DHCR24 3
- DHCR7 3
- DHRSX 6
- DHX16 2
- DNAJC5 1
- DPM2 5
- EFHC1 7
- EIF2AK2 1
- EMX2 6
- EXOC7 1
- FAM50A 2
- FDFT1 3
- FH 4
- FKRP 4
- FSD1L 1
- GABRA3 1
- GCH1 4
- GFM1 3
- GLI3 4
- GLRA1 8
- GLYCTK 3
- GSS 3
- GTPBP3 4
- GUF1 2
- HCCS 4
- HEATR5B 2
- HLCS 8
- HOXA1 3
- HPRT1 4
- HSPD1 4
- ISPD 5
- JAKMIP1 2
- JKAMP 1
- KATNB1 3
- KCNB2 1
- KDM2A 1
- KIF1BP 8
- LARGE1 4
- LIPT1 1
- LIPT2 4
- LMAN2L 1
- LMNB1 2
- LYST 3
- MANBA 4
- MAST1 4
- MED17 5
- MTR 4
- NCDN 1
- NDP 4
- NDUFA2 5
- NDUFAF3 4
- NDUFAF4 3
- NDUFS1 4
- NDUFS2 4
- NDUFS6 4
- NDUFS7 4
- NECAP1 9
- NRDC 1
- NSF 4
- NUBPL 4
- OTX2 3
- PAK2 1
- PARP6 2
- PDSS2 4
- PEX1 4
- PEX10 3
- PEX12 3
- PEX13 3
- PEX19 3
- PEX2 3
- PEX3 3
- PEX5 3
- PEX6 3
- PEX7 4
- PIGS 2
- POLG2 3
- POMT2 4
- PPP2R1A 1
- PRICKLE1 10
- PRMT9 1
- PRODH 3
- PSAT1 4
- PSPH 4
- PTF1A 3
- PTPMT1 1
- QDPR 4
- RAB11A 1
- RAB3GAP1 4
- RAB3GAP2 4
- RANBP2 6
- RNF2 1
- RNU4ATAC 4
- RPIA 4
- RPS6KC1 1
- RRM2B 3
- RUSC2 4
- RYR2 4
- RYR3 9
- SAMD12 2
- SCO1 3
- SCO2 4
- SDHA 4
- SIX3 4
- SLC31A1 1
- SLC35A1 4
- SLC35A3 4
- SLC45A1 4
- SNF8 1
- SNX27 5
- SPR 5
- SPTBN4 2
- STARD7 1
- SUCLG1 3
- SYNCRIP 2
- TANC2 2
- TBC1D20 3
- TCP1 1
- TEFM 2
- TELO2 4
- TET3 3
- TMEM106B 2
- TMEM70 3
- TNK2 3
- TRAF7 4
- TRAPPC6B 4
- TRIP13 3
- TRRAP 5
- TSEN15 4
- TSEN2 3
- TSEN34 3
- TSFM 3
- TUBA8 3
- TUBB 3
- TXNRD1 3
- UFC1 4
- USP7 4
- VLDLR 4
- VPS50 2
- WDR62 4
- WSB2 1
- XK 2
- YIF1B 2
- ZMIZ1 4
- ZMYM2 4
- AARS2 4
- ADGRV1 4
- ADRA2B 3
- AGMO 2
- AKT1 5
- ALG12 4
- ALG2 4
- BCORL1 2
- BET1 2
- CACNB4 11
- CAMK2G 3
- CAMLG 1
- CASR 2
- CBL 9
- CCDC186 2
- CCND2 4
- CHMP3 1
- CHRM1 2
- CLCN2 4
- CLCN6 4
- CLN5 6
- CPA6 10
- CRH 6
- CSNK2A1 3
- DMBX1 3
- EIF2A 1
- FIG4 4
- FTL 3
- FUT2 1
- GAL 3
- GATAD2B 8
- GATM 8
- GLRB 7
- GNB2 1
- IDH2 5
- INO80 3
- KCNH8 1
- KMT5B 3
- LMNB2 3
- MAGI2 12
- MAPK10 9
- MATN4 3
- MCM3AP 1
- MT-CO3 1
- MT-TL1 6
- MYO1H 2
- NDUFA11 3
- NID1 3
- NRAS 4
- PCDHB4 3
- PCLO 5
- PIK3CA 4
- PRDM8 2
- PRICKLE2 6
- PSMB8 3
- PTCH1 2
- RALGAPB 2
- RNU12 1
- RNU5A-1 1
- RTEL1 1
- RUBCN 4
- SCN2B 6
- SCN9A 11
- SEC24D 3
- SEC31A 1
- SHH 4
- SLC25A19 2
- SLC5A6 4
- SLC6A19 3
- SLC6A5 8
- SLC7A6OS 2
- SRPX2 8
- STIL 2
- TGIF1 2
- TUBA3E 3
- TXN2 1
- UNC13B 2
- ZIC2 2
- PROSC 4
Regions in panel
Prev
Next
-
15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss
ISCA-37411-Loss 2 -
16p13.11 recurrent region (includes MYH11) Loss
ISCA-37415-Loss 2 -
8p23.1 recurrent region (includes GATA4) Gain
ISCA-37423-Gain 2 -
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
ISCA-37429-Loss 3 -
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss
ISCA-37430-Loss 2 -
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain
ISCA-37432-Gain 2 -
1p36 terminal region (includes GABRD) Loss
ISCA-37434-Loss 2 -
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
ISCA-37446-Loss 2 -
15q11.2 recurrent region (BP1-BP2) (includes NIPA1) Loss
ISCA-37448-Loss 1 -
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
ISCA-37478-Gain 2 -
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
ISCA-37478-Loss 2 -
1q43q44 terminal region (includes AKT3) Loss
ISCA-37493-Loss 2 -
Xp11.22p11.23 recurrent region (includes SHROOM4) Gain
ISCA-46290-Gain 2 -
15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss
ISCA-46295-Loss 2 -
16p12.2 recurrent region (distal)(includes OTOA) Loss
ISCA-46297-Loss 1 -
Xq28 region (includes MECP2) Gain
ISCA-46304-Gain 1 -
Xq25 region (includes STAG2) Gain
ISCA-46743-Gain 1 -
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
ISCA-37404-Loss 2 -
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
ISCA-37433-Loss 2
Early onset or syndromic epilepsy
Gene: CACNA1I Green List (high evidence)
CACNA1I (calcium voltage-gated channel subunit alpha1 I)
EnsemblGeneIds (GRCh38): ENSG00000100346
EnsemblGeneIds (GRCh37): ENSG00000100346
OMIM: 608230, Gene2Phenotype
CACNA1I is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000100346
EnsemblGeneIds (GRCh37): ENSG00000100346
OMIM: 608230, Gene2Phenotype
CACNA1I is in 2 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
Green List (high evidence)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 9:39 a.m. | Last Modified: 1 Feb 2023, 9:39 a.m.
Panel Version: 3.29
Created: 1 Feb 2023, 9:39 a.m.
Last Modified: 1 Feb 2023, 9:39 a.m.
Panel version: 3.29
Last Modified: 1 Feb 2023, 9:39 a.m.
Panel version: 3.29
Eleanor Williams (Genomics England Curator)
Removed the gene-checked tag as this gene now has a relevant phenotype associated with it in OMIM.Created: 21 Nov 2022, 4:23 p.m. | Last Modified: 21 Nov 2022, 4:23 p.m.
Panel Version: 2.605
Created: 21 Nov 2022, 4:23 p.m.
Last Modified: 21 Nov 2022, 4:23 p.m.
Panel version: 2.605
Last Modified: 21 Nov 2022, 4:23 p.m.
Panel version: 2.605
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 11 Oct 2021, 10:05 a.m. | Last Modified: 11 Oct 2021, 10:05 a.m.
Panel Version: 3.1339
Created: 11 Oct 2021, 10:05 a.m.
Last Modified: 11 Oct 2021, 10:05 a.m.
Copied from panel: Intellectual disability v3.1339
Last Modified: 11 Oct 2021, 10:05 a.m.
Copied from panel: Intellectual disability v3.1339
Zornitza Stark (Australian Genomics)
Green List (high evidence)
4 different missense variants identified and shown to result in a gain of function.
2 individuals with de novo variants (a 3rd also suspected de novo but their father was unavailable for testing) - these patients all had severe neurodevelopmental disorders, involving severe global developmental delay, absence of speech, gross motor delay, muscular hypotonia, early-onset seizures, cortical visual impairment, and feeding difficulties. Variable clinical features include various brain malformations, startle response or seizures, postnatal growth retardation, gastroesophageal reflux, and gastrostomy.
1 family had three affected individuals - variable cognitive impairment in all, involving borderline intellectual functioning or mild or moderate intellectual disability as main clinical feature, with late-onset seizures in the mother and speech retardation in one of the children. This variant had a milder functional effect than the variants in sporadic cases.
Sources: LiteratureCreated: 13 Sep 2021, 8 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Created: 13 Sep 2021, 8 a.m.
Copied from panel: Intellectual disability v3.1339
Copied from panel: Intellectual disability v3.1339
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Neurodevelopmental disorder with speech impairment and with or without seizures, OMIM:620114
- OMIM
- 608230
- Clinvar variants
- Variants in CACNA1I
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
1 Feb 2023, Gel status: 3
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_rating was removed from gene: CACNA1I.
1 Feb 2023, Gel status: 3
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to CACNA1I. Source NHS GMS was added to CACNA1I. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
21 Nov 2022, Gel status: 2
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: CACNA1I were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with speech impairment and with or without seizures, OMIM:620114
21 Nov 2022, Gel status: 2
Removed Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked was removed from gene: CACNA1I.
8 May 2022, Gel status: 2
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: CACNA1I.
11 Oct 2021, Gel status: 2
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Ivone Leong (Genomics England Curator)gene: CACNA1I was added gene: CACNA1I was added to Genetic epilepsy syndromes. Sources: Expert Review Amber,Literature Q4_21_rating tags were added to gene: CACNA1I. Mode of inheritance for gene: CACNA1I was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1I were set to 33704440 Phenotypes for gene: CACNA1I were set to Neurodevelopmental disorder Mode of pathogenicity for gene: CACNA1I was set to Other