Genes in panel
- ADNP 1
- ANK2 1
- ARID1B 1
- ASH1L 1
- ASXL3 1
- CHD2 1
- CHD8 1
- CUL3 1
- DSCAM 1
- DYRK1A 1
- GRIN2B 1
- KATNAL2 1
- KMT2A 1
- KMT5B 1
- MYT1L 1
- NAA15 1
- POGZ 1
- PTEN 2
- RAB39B 2
- RELN 1
- SCN2A 1
- SETD5 1
- SHANK3 1
- SYNGAP1 1
- TBR1 1
- TRIP12 1
- ZNF292 2
- ANKRD11 1
- BAZ2B 2
- BCKDK 1
- BCL11A 1
- CACNA1D 1
- CACNA1H 1
- CACNA2D3 1
- CIC 1
- CMIP 3
- CNOT3 1
- CNTN4 1
- CNTNAP2 1
- CTNND2 1
- CUX1 1
- DDX3X 1
- DEAF1 1
- DIP2C 1
- ERBIN 1
- FOXP1 1
- GABRB3 1
- GIGYF2 1
- GRIA1 1
- GRIP1 1
- ILF2 1
- INTS6 1
- IRF2BPL 1
- KAT2B 1
- KDM5B 1
- KDM6A 1
- KMT2C 1
- LEO1 1
- MAGEL2 1
- MBOAT7 1
- MECP2 1
- MED13 1
- MED13L 1
- MET 1
- NCKAP1 1
- NLGN3 1
- NRXN1 1
- PHF3 1
- PTCHD1 1
- RANBP17 1
- RIMS1 1
- SCN9A 1
- SHANK2 1
- SLC6A1 1
- SMARCC2 1
- SPAST 1
- SRCAP 1
- SRSF11 1
- TAOK2 1
- TBL1XR1 1
- TCF20 1
- TNRC6B 1
- TRIO 1
- UBN2 1
- UPF3B 1
- USP15 1
- USP7 1
- WAC 1
- WDFY3 1
- ABAT 1
- ABCA10 1
- ABCA13 1
- ABCA7 1
- ACE 1
- ACHE 1
- ACTN4 1
- ADA 1
- ADCY3 1
- ADCY5 1
- ADK 1
- ADORA2A 1
- ADORA3 1
- ADRB2 1
- AFF2 1
- AGAP1 1
- AGAP2 1
- AGBL4 1
- AGMO 1
- AGO1 1
- AGTR2 1
- AHDC1 1
- AKAP9 1
- AMPD1 1
- AMT 1
- ANK3 1
- ANKS1B 1
- ANXA1 1
- APBA2 1
- APBB1 1
- APH1A 1
- AR 1
- ARHGAP11B 1
- ARHGAP32 1
- ARHGAP5 1
- ARHGEF10 1
- ARHGEF9 1
- ARNT2 1
- ASAP2 1
- ASMT 1
- ASPM 1
- ASTN2 1
- ATP10A 1
- ATP1A1 1
- ATP1A3 1
- ATP2B2 1
- ATP6V0A2 1
- ATRX 1
- AUTS2 1
- AVPR1A 1
- AVPR1B 1
- AZGP1 1
- BBS4 1
- BCAS1 1
- BICDL1 1
- BIRC6 1
- BRCA2 1
- BRD4 1
- BRSK1 1
- BST1 1
- BTAF1 1
- C15orf62 1
- C3orf58 1
- C4B 1
- CA6 1
- CACNA1B 1
- CACNA1E 1
- CACNA1F 1
- CACNA1G 1
- CACNA1I 1
- CACNA2D1 1
- CACNB2 1
- CADM1 1
- CADM2 1
- CADPS2 1
- CAMK2A 1
- CAMK4 1
- CAPN12 1
- CAPRIN1 1
- CARD11 1
- CASC4 2
- CASK 1
- CC2D1A 1
- CCDC88C 1
- CCDC91 1
- CCNG1 1
- CCT4 1
- CD276 1
- CD38 1
- CD99L2 1
- CDC42BPB 1
- CDH10 1
- CDH11 1
- CDH13 1
- CDH22 1
- CDH8 1
- CDH9 1
- CECR2 1
- CELF4 1
- CELF6 1
- CEP135 1
- CEP290 1
- CEP41 1
- CGNL1 1
- CHD1 2
- CHD3 1
- CHMP1A 1
- CHRM3 1
- CHRNA7 1
- CHRNB3 1
- CIB2 1
- CLASP1 1
- CLN8 1
- CLTCL1 1
- CNGB3 1
- CNKSR2 1
- CNR1 1
- CNTN3 1
- CNTN5 1
- CNTN6 1
- CNTNAP3 1
- CNTNAP4 1
- CNTNAP5 1
- COL28A1 1
- CPEB4 1
- CPT2 1
- CSMD1 1
- CSNK1E 1
- CTCF 1
- CTNNA3 1
- CTNNB1 1
- CTTNBP2 1
- CUL7 1
- CUX2 1
- CX3CR1 1
- CYFIP1 1
- CYLC2 1
- CYP11B1 1
- DAGLA 1
- DAPP1 1
- DDC 2
- DDX53 1
- DENR 1
- DIP2A 1
- DISC1 1
- DIXDC1 1
- DLG1 1
- DLGAP1 1
- DLGAP2 1
- DLGAP3 1
- DLX2 1
- DLX6 1
- DMXL2 1
- DNAH10 1
- DNAH17 1
- DNAH3 1
- DNER 1
- DNMT3A 1
- DOCK1 1
- DOCK4 1
- DOCK8 1
- DPP10 1
- DPP4 1
- DPP6 1
- DPYD 1
- DPYSL2 1
- DPYSL3 1
- DRD1 1
- DRD2 1
- DRD3 1
- DST 1
- DUSP15 1
- DVL3 1
- DYDC1 1
- DYDC2 1
- DYNC1H1 1
- EFR3A 1
- EHMT1 1
- EIF3G 1
- EIF4E 1
- ELAVL2 1
- ELAVL3 1
- ELOVL2 1
- ELP4 1
- EMSY 1
- EN2 1
- EP300 1
- EP400 1
- EPC2 1
- EPHB2 1
- EPPK1 1
- ERG 1
- ERMN 1
- ESR2 1
- ESRRB 1
- ETFB 1
- EXOC3 1
- EXOC5 1
- EXOC6 1
- EXOC6B 1
- EXT1 1
- FABP5 1
- FAM47A 1
- FAM92B 2
- FAN1 1
- FAT1 1
- FBN1 1
- FBXO11 1
- FBXO33 1
- FBXO40 1
- FCRL6 1
- FEZF2 1
- FGA 1
- FHIT 1
- FOXP2 1
- FRK 1
- GABBR2 1
- GABRA4 1
- GABRG3 1
- GALNT13 1
- GALNT14 1
- GALNT8 1
- GAS2 1
- GDA 1
- GGNBP2 1
- GIGYF1 1
- GLIS1 1
- GLO1 1
- GLRA2 1
- GNAS 1
- GNB1L 1
- GPC4 1
- GPC6 1
- GPD2 1
- GPHN 1
- GPR37 1
- GPR85 1
- GPX1 1
- GRID1 1
- GRID2 1
- GRID2IP 1
- GRIK2 1
- GRIK3 1
- GRIK4 1
- GRIK5 1
- GRIN1 1
- GRIN2A 1
- GRM5 1
- GRM7 1
- GSTM1 1
- GTF2I 1
- GUCY1A2 1
- HDLBP 1
- HECTD4 1
- HECW2 1
- HIVEP3 1
- HLA-A 1
- HLA-B 1
- HLA-DRB1 1
- HLA-G 1
- HMGN1 1
- HNRNPH2 1
- HNRNPU 1
- HOMER1 1
- HRAS 1
- HS3ST5 1
- HSD11B1 1
- HTR1B 1
- HTR3A 1
- HTR3C 1
- HYDIN 1
- ICA1 1
- IL1R2 1
- IL1RAPL1 1
- IL1RAPL2 1
- IMMP2L 1
- INPP1 1
- IQGAP3 1
- IQSEC2 1
- ITGB3 1
- ITPR1 1
- JARID2 1
- JMJD1C 1
- KANK1 1
- KAT6A 1
- KATNAL1 1
- KCND2 1
- KCND3 1
- KCNJ10 1
- KCNJ15 1
- KCNK7 1
- KCNMA1 2
- KCNQ2 1
- KCNQ3 1
- KCTD13 1
- KDM4B 1
- KDM4C 1
- KDM5C 1
- KDM6B 1
- KHDRBS2 1
- KIAA1586 1
- KIF13B 1
- KIF14 1
- KIF5C 1
- KIRREL3 1
- KLF16 1
- KMT2E 1
- KRR1 1
- KRT26 1
- LAMA1 1
- LAMB1 1
- LEP 1
- LILRB2 1
- LIN7B 1
- LMX1B 1
- LRBA 1
- LRFN2 1
- LRFN5 1
- LRP2 1
- LRRC1 1
- LRRC4 1
- LZTR1 1
- LZTS2 1
- MACROD2 1
- MAOA 1
- MAOB 1
- MAPK3 1
- MARK1 1
- MBD1 1
- MBD3 1
- MBD4 1
- MBD5 1
- MBD6 1
- MCM4 1
- MCM6 1
- MCPH1 1
- MDGA2 1
- MEF2C 1
- MEGF10 1
- MEGF11 1
- MFRP 1
- MIB1 1
- MIR137 2
- MKL2 1
- MNT 1
- MPP6 2
- MSANTD2 1
- MSR1 1
- MTF1 1
- MTHFR 1
- MTOR 1
- MUC12 1
- MUC4 1
- MYH10 1
- MYH4 1
- MYO16 1
- MYO1E 1
- MYO5A 1
- MYO5C 1
- MYO9B 1
- NAALADL2 1
- NACC1 1
- NAV2 1
- NBEA 1
- NCKAP5 1
- NCOR1 1
- NDUFA5 1
- NEO1 1
- NEXMIF 1
- NFIA 1
- NFIB 1
- NINL 1
- NIPA1 1
- NIPA2 1
- NLGN1 1
- NLGN2 1
- NLGN4X 1
- NLGN4Y 1
- NOTCH2NL 2
- NPAS2 1
- NR1D1 1
- NR2F1 1
- NR3C2 1
- NR4A2 1
- NRCAM 1
- NRP2 1
- NRXN2 1
- NRXN3 1
- NSMCE3 1
- NTNG1 1
- NTRK1 1
- NTRK3 1
- NUAK1 1
- NUDCD2 1
- NUP133 1
- NXPH1 1
- ODF3L2 1
- OFD1 1
- OPHN1 1
- OR1C1 1
- OR2M4 1
- OR2T10 1
- OR52M1 1
- OTUD7A 1
- OTX1 1
- OXT 1
- OXTR 1
- P2RX5 1
- P4HA2 1
- PAH 1
- PAK2 1
- PARD3B 1
- PATJ 1
- PAX5 1
- PCDH10 1
- PCDH11X 1
- PCDH15 1
- PCDH9 1
- PCDHA1 1
- PCDHA10 1
- PCDHA11 1
- PCDHA12 1
- PCDHA13 1
- PCDHA2 1
- PCDHA3 1
- PCDHA4 1
- PCDHA5 1
- PCDHA6 1
- PCDHA7 1
- PCDHA8 1
- PCDHA9 1
- PCDHAC1 1
- PCDHAC2 1
- PDCD1 1
- PDE1C 1
- PER1 1
- PER2 1
- PEX7 1
- PHB 1
- PHF2 1
- PHIP 1
- PHRF1 1
- PIK3CG 1
- PITX1 1
- PLAUR 1
- PLCB1 1
- PLN 1
- PLXNA3 1
- PLXNA4 1
- PLXNB1 1
- PNPLA7 1
- POLA2 1
- POMT1 1
- PON1 1
- POT1 1
- PPFIA1 1
- PPM1D 1
- PPP1R1B 1
- PPP2R1B 1
- PPP2R5D 1
- PREX1 1
- PRICKLE1 1
- PRICKLE2 1
- PRKCB 1
- PRKDC 1
- PRKN 1
- PRODH 1
- PRPF39 1
- PRUNE2 1
- PSD3 1
- PTBP2 1
- PTGS2 1
- PTK7 1
- PTPN11 1
- PTPRB 1
- PTPRC 1
- PTPRT 1
- PXDN 1
- PYHIN1 1
- QRICH1 1
- RAB11FIP5 1
- RAB2A 1
- RAB43 1
- RAD21L1 1
- RAI1 1
- RAPGEF4 1
- RASSF5 1
- RBFOX1 1
- RBM27 1
- REEP3 1
- RERE 1
- RFX3 1
- RGS7 1
- RHOXF1 1
- RIMS3 1
- RIT2 1
- RNF135 1
- RNF38 1
- ROBO2 1
- RPL10 1
- RPS6KA2 1
- RPS6KA3 1
- SAE1 1
- SAMD11 1
- SASH1 1
- SATB2 1
- SBF1 1
- SCFD2 1
- SCN1A 1
- SCN4A 1
- SCN8A 1
- SCP2 1
- SDC2 1
- SEMA5A 1
- SERPINE1 1
- SETBP1 1
- SETD1B 1
- SETD2 1
- SETDB1 1
- SETDB2 1
- SEZ6L2 1
- SGSM3 1
- SHANK1 1
- SHOX 1
- SIN3A 1
- SLC12A5 1
- SLC1A1 1
- SLC22A15 1
- SLC22A9 1
- SLC24A2 1
- SLC25A12 1
- SLC25A27 1
- SLC25A39 1
- SLC27A4 1
- SLC29A4 1
- SLC35B1 1
- SLC38A10 1
- SLC4A10 1
- SLC6A3 1
- SLC6A4 1
- SLC6A8 1
- SLC7A3 1
- SLC7A5 1
- SLC7A7 1
- SLC9A9 1
- SLCO1B3 1
- SLITRK5 1
- SMAD4 1
- SMARCA4 1
- SMC3 1
- SMG6 1
- SNAP25 1
- SND1 1
- SNTG2 1
- SOD1 1
- SPARCL1 1
- SPP2 1
- SRGAP3 1
- SSPO 1
- SSRP1 1
- ST7 1
- ST8SIA2 1
- STK39 1
- STX1A 1
- STXBP1 1
- STXBP5 1
- STYK1 1
- SYAP1 1
- SYN1 1
- SYN2 1
- SYNCRIP 1
- SYNE1 1
- SYNJ1 1
- SYT17 1
- TAF1C 1
- TAF6 1
- TANC2 2
- TBC1D31 1
- TBC1D5 1
- TBL1X 1
- TBX1 1
- TCF4 1
- TCF7L2 1
- TDO2 1
- TECTA 1
- TERB2 1
- TERF2 1
- TET2 1
- THBS1 1
- THRA 1
- TLK2 1
- TM4SF19 1
- TMLHE 1
- TMPRSS9 2
- TOP3B 1
- TPO 1
- TRAF7 1
- TRAPPC9 1
- TRIM33 1
- TRPC6 1
- TRPM1 1
- TSC2 1
- TSHZ3 1
- TSPAN17 1
- TSPAN7 1
- TSPOAP1 1
- TTC25 2
- TTN 1
- TUBGCP5 1
- UBE2H 1
- UBE3A 1
- UBE3C 1
- UBR5 1
- UNC13A 1
- UNC79 1
- UNC80 1
- USH2A 1
- USP45 1
- USP9Y 1
- VASH1 1
- VDR 1
- VIL1 1
- VSIG4 1
- WNK3 1
- WNT1 1
- WWOX 1
- XPO1 1
- YEATS2 1
- YTHDC2 1
- YWHAE 1
- ZBTB16 1
- ZBTB20 1
- ZC3H4 1
- ZMYND11 1
- ZNF18 1
- ZNF385B 1
- ZNF462 1
- ZNF517 1
- ZNF548 1
- ZNF559 1
- ZNF626 1
- ZNF713 1
- ZNF774 1
- ZNF804A 1
- ZNF827 1
- ZWILCH 1
- RIMS2 1
STRs in panel
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Regions in panel
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This Panel is marked as Retired
Autism
Gene: CACNA1H Amber List (moderate evidence)
CACNA1H (calcium voltage-gated channel subunit alpha1 H)
EnsemblGeneIds (GRCh38): ENSG00000196557
EnsemblGeneIds (GRCh37): ENSG00000196557
OMIM: 607904, Gene2Phenotype
CACNA1H is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000196557
EnsemblGeneIds (GRCh37): ENSG00000196557
OMIM: 607904, Gene2Phenotype
CACNA1H is in 4 panels
1 review
Louise Daugherty (Genomics England Curator)
I don't know
Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/CACNA1HCreated: 1 Apr 2019, 11:26 a.m.
Created: 1 Apr 2019, 11:26 a.m.
Panel version: 0.11
Panel version: 0.11
Details
- Sources
-
- Expert Review Amber
- SFARI
- OMIM
- 607904
- Clinvar variants
- Variants in CACNA1H
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
1 Apr 2019, Gel status: 2
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene CACNA1H were changed from to 20212079; 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932
29 Mar 2019, Gel status: 2
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to CACNA1H. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
29 Mar 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: CACNA1H was added gene: CACNA1H was added to Autism. Sources: SFARI Mode of inheritance for gene: CACNA1H was set to