- Panels
- Fetal anomalies
- PKP2
Genes in panel
- AAAS 3
- AARS2 3
- ABCA12 1
- ABCC6 1
- ABCC9 1
- ABHD5 1
- ABL1 3
- ACAD9 1
- ACADVL 1
- ACAN 3
- ACBD6 2
- ACE 1
- ACOX1 1
- ACP5 1
- ACTA1 1
- ACTA2 1
- ACTB 2
- ACTC1 1
- ACTG1 1
- ACTG2 1
- ACVR2B 3
- ACVRL1 5
- ACY1 1
- ADAMTS10 1
- ADAMTS15 2
- ADAMTS17 1
- ADAMTS3 2
- ADAMTSL2 1
- ADAR 1
- ADCY6 2
- ADD1 2
- ADGRG1 1
- ADGRG6 1
- ADNP 1
- ADSL 1
- AFF3 3
- AFF4 1
- AGK 1
- AGL 1
- AGPS 1
- AGRN 5
- AGT 5
- AGTR1 2
- AHCY 3
- AHDC1 1
- AHI1 1
- AKT1 2
- AKT2 2
- AKT3 1
- AL117258.1 2
- ALDH18A1 1
- ALDH1A2 2
- ALDH1A3 1
- ALDH3A2 1
- ALDH7A1 2
- ALDOA 1
- ALG1 1
- ALG12 1
- ALG14 2
- ALG2 3
- ALG3 1
- ALG6 1
- ALG8 1
- ALG9 5
- ALMS1 1
- ALOX12B 2
- ALOXE3 2
- ALPK3 2
- ALPL 1
- ALX1 1
- ALX3 1
- ALX4 1
- AMACR 2
- AMER1 1
- AMMECR1 2
- AMOTL1 2
- AMPD2 1
- AMT 1
- ANAPC1 1
- ANGPT2 5
- ANKH 1
- ANKRD11 1
- ANKS6 2
- ANOS1 1
- ANTXR1 1
- ANTXR2 3
- AP1S2 2
- AP4B1 3
- AP4E1 1
- AP4S1 3
- APC2 2
- AR 1
- ARCN1 1
- ARFGEF2 3
- ARHGAP29 2
- ARHGAP31 1
- ARID1A 1
- ARID1B 1
- ARID2 3
- ARL13B 1
- ARL2BP 3
- ARL3 2
- ARL6 1
- ARL6IP1 3
- ARMC4 2
- ARMC9 1
- ARSA 1
- ARSB 1
- ARSE 2
- ARX 1
- ASAH1 1
- ASCC1 2
- ASNS 1
- ASPA 1
- ASPM 1
- ASS1 1
- ASXL1 2
- ASXL3 6
- ATAD1 2
- ATAD3A 3
- ATG7 2
- ATIC 1
- ATN1 2
- ATP1A2 4
- ATP5O 2
- ATP6V0A2 1
- ATP7A 1
- ATR 3
- ATRX 1
- B3GALNT2 3
- B3GALT6 1
- B3GAT3 1
- B3GLCT 1
- B4GALT7 1
- B4GAT1 2
- B9D2 2
- BBS1 1
- BBS10 1
- BBS12 1
- BBS2 1
- BBS4 1
- BBS5 1
- BBS7 1
- BBS9 1
- BCAP31 1
- BCL11A 1
- BCOR 1
- BCS1L 1
- BFSP2 1
- BGN 2
- BHLHA9 3
- BICD2 2
- BIN1 1
- BLM 1
- BMP1 1
- BMP2 2
- BMP4 1
- BMPER 1
- BMPR1B 2
- BNC2 2
- BORCS5 3
- BRAF 1
- BRAT1 1
- BRCA1 3
- BRCA2 2
- BRD4 2
- BRIP1 1
- BRPF1 1
- BSND 1
- BTD 1
- BUB1B 1
- C11orf70 1
- C12orf57 3
- C12orf65 2
- C12orf66 3
- C16orf62 2
- C19orf70 2
- C1orf127 4
- C1QBP 5
- C21orf2 1
- C21orf59 3
- C2CD3 3
- C2orf69 2
- C5orf42 1
- C8orf37 2
- CA2 1
- CA8 1
- CACNA1C 1
- CACNA1E 1
- CACNA1G 2
- CACNA1S 4
- CANT1 2
- CASK 1
- CASP2 2
- CASR 2
- CBL 1
- CBY1 2
- CC2D2A 1
- CCBE1 1
- CCDC103 2
- CCDC114 2
- CCDC151 4
- CCDC22 3
- CCDC39 1
- CCDC40 1
- CCDC8 3
- CCDC88C 3
- CCND2 1
- CDAN1 2
- CDC45 1
- CDC6 1
- CDH1 1
- CDH2 2
- CDH3 1
- CDK10 2
- CDK13 1
- CDK5 3
- CDK5RAP2 3
- CDK8 2
- CDKL5 1
- CDKN1C 1
- CDON 1
- CDT1 1
- CDX2 4
- CELSR1 6
- CENPF 2
- CENPJ 2
- CEP104 1
- CEP120 2
- CEP135 3
- CEP152 1
- CEP164 1
- CEP290 1
- CEP295 2
- CEP41 1
- CEP55 4
- CEP57 1
- CEP63 3
- CEP83 1
- CEP85L 2
- CERS3 2
- CFAP45 2
- CFAP52 2
- CFAP53 2
- CFC1 1
- CFL2 3
- CFTR 1
- CHAMP1 1
- CHAT 1
- CHD4 2
- CHD7 1
- CHKB 1
- CHMP1A 3
- CHRNA1 1
- CHRNA3 2
- CHRNB1 2
- CHRND 1
- CHRNE 2
- CHRNG 1
- CHST14 1
- CHST3 1
- CHSY1 1
- CHUK 1
- CIT 3
- CKAP2L 1
- CLCN4 2
- CLCN7 2
- CLP1 4
- CLPB 2
- CLTC 5
- CNOT1 1
- CNOT2 2
- CNOT3 1
- CNTNAP1 1
- CNTNAP2 1
- COA7 2
- COASY 1
- COG1 1
- COG4 1
- COG5 3
- COG6 2
- COG7 1
- COG8 1
- COL10A1 1
- COL11A1 1
- COL11A2 1
- COL12A1 2
- COL13A1 3
- COL18A1 1
- COL1A1 1
- COL1A2 3
- COL25A1 5
- COL2A1 1
- COL3A1 2
- COL4A1 2
- COL4A2 2
- COL4A3BP 2
- COL6A1 2
- COL6A2 1
- COL6A3 2
- COL9A1 1
- COL9A2 1
- COLEC10 3
- COLEC11 1
- COLQ 2
- COMP 4
- COQ2 4
- COQ4 2
- COQ7 2
- COQ9 1
- COX7B 1
- CPT2 1
- CRADD 3
- CRB2 1
- CREB3L1 2
- CREBBP 1
- CRIPT 2
- CRLF1 1
- CRTAP 1
- CRYAA 1
- CRYBA1 1
- CRYBA4 1
- CRYBB1 1
- CRYBB2 1
- CRYBB3 2
- CRYGC 1
- CRYGD 1
- CSF1R 2
- CSGALNACT1 2
- CSNK2A1 1
- CSPP1 1
- CTC1 1
- CTCF 1
- CTGF 3
- CTNNA2 1
- CTNNB1 1
- CTNND1 3
- CTSA 1
- CTSD 1
- CTSK 1
- CTU2 2
- CUL4B 1
- CUL7 1
- CWC27 1
- CYBB 1
- CYP11A1 3
- CYP11B1 2
- CYP17A1 1
- CYP1B1 1
- CYP21A2 1
- CYP26B1 2
- CYP2U1 1
- CYP4F22 2
- DAG1 1
- DARS 2
- DARS2 3
- DAW1 2
- DCC 3
- DCHS1 1
- DCX 1
- DDR2 1
- DDRGK1 2
- DDX11 1
- DDX3X 1
- DDX59 3
- DENND5A 3
- DEPDC5 5
- DHCR24 1
- DHCR7 1
- DHFR 1
- DHODH 1
- DHRSX 3
- DHX30 3
- DHX9 3
- DIAPH1 2
- DIS3L2 1
- DISP1 3
- DKC1 1
- DLG5 2
- DLL1 2
- DLL3 1
- DLL4 1
- DLX5 2
- DNA2 2
- DNAAF1 1
- DNAAF2 2
- DNAAF3 1
- DNAAF4 1
- DNAAF5 3
- DNAH11 1
- DNAH5 1
- DNAH9 1
- DNAI1 1
- DNAI2 2
- DNAJB11 2
- DNAL1 2
- DNM1L 2
- DNM2 2
- DNMT3A 1
- DNMT3B 1
- DOCK6 1
- DOK7 1
- DOLK 1
- DONSON 2
- DPAGT1 1
- DPF2 3
- DPH1 3
- DPM1 1
- DPM2 2
- DPM3 3
- DPYSL5 2
- DRG1 2
- DSE 3
- DSP 1
- DST 4
- DSTYK 1
- DVL1 1
- DVL3 1
- DYM 1
- DYNC1H1 1
- DYNC1I1 2
- DYNC1I2 2
- DYNC2H1 1
- DYNC2LI1 2
- DYRK1A 1
- DZIP1L 2
- EARS2 2
- EBF3 2
- EBP 1
- ECEL1 1
- ECHS1 2
- EDNRA 1
- EDNRB 3
- EED 3
- EEF2 2
- EEFSEC 3
- EFCAB1 3
- EFEMP2 2
- EFL1 3
- EFNB1 1
- EFTUD2 1
- EHBP1L1 3
- EHMT1 1
- EIF2AK3 1
- EIF2B2 1
- EIF2B3 1
- EIF2S3 3
- EIF4A3 1
- EIF5A 2
- ELAC2 1
- ELN 1
- ELOVL4 1
- EMD 1
- EMG1 3
- EML1 2
- EMX2 4
- EN1 3
- ENG 4
- ENPP1 3
- EOGT 1
- EP300 1
- EPG5 1
- EPHB4 1
- ERBB3 2
- ERCC1 1
- ERCC2 1
- ERCC3 1
- ERCC4 1
- ERCC5 1
- ERCC6 1
- ERCC8 1
- ERF 1
- ERGIC1 2
- ERI1 2
- ESAM 3
- ESCO2 1
- ETFA 1
- ETFB 1
- ETFDH 1
- EVC 1
- EVC2 3
- EXOC3L2 4
- EXOC6B 3
- EXOC7 2
- EXOSC3 1
- EXOSC8 4
- EXT1 1
- EXT2 1
- EXTL3 2
- EYA1 1
- EZH2 1
- FAAP100 3
- FAH 1
- FAM111A 2
- FAM126A 2
- FAM149B1 2
- FAM20A 1
- FAM20C 1
- FAM46A 2
- FAM58A 1
- FANCA 1
- FANCB 1
- FANCC 1
- FANCD2 1
- FANCE 1
- FANCF 1
- FANCG 1
- FANCI 1
- FANCL 3
- FAR1 1
- FAS 2
- FAT1 2
- FAT4 1
- FBLN5 1
- FBN1 1
- FBN2 3
- FBRSL1 2
- FBXL4 1
- FGD1 1
- FGF10 1
- FGF3 1
- FGF8 2
- FGFR1 1
- FGFR2 1
- FGFR3 1
- FH 1
- FIG4 3
- FILIP1 2
- FKBP10 2
- FKBP14 1
- FKRP 1
- FKTN 1
- FLNA 1
- FLNB 1
- FLNC 2
- FLT4 1
- FLVCR1 5
- FLVCR2 1
- FN1 3
- FOLR1 1
- FOSL2 2
- FOXC1 2
- FOXC2 1
- FOXE1 1
- FOXE3 2
- FOXF1 1
- FOXG1 1
- FOXJ1 2
- FOXP3 1
- FOXP4 4
- FOXRED1 1
- FRA10AC1 2
- FRAS1 1
- FREM1 1
- FREM2 1
- FRMD4A 1
- FTL 1
- FTO 4
- FUT8 2
- FUZ 3
- FYCO1 1
- FZD2 2
- G6PC3 1
- GAA 1
- GALC 1
- GALE 1
- GALK1 1
- GALNS 1
- GALNT2 3
- GALT 4
- GANAB 2
- GATA1 5
- GATA2 1
- GATA3 2
- GATA4 1
- GATA6 1
- GATB 3
- GBA 2
- GBA2 1
- GBE1 2
- GCDH 1
- GDF1 2
- GDF11 2
- GDF5 1
- GDF6 2
- GEMIN4 3
- GFAP 1
- GFM1 1
- GFPT1 2
- GFRA1 4
- GHR 3
- GJA1 1
- GJA3 1
- GJA8 1
- GJC2 1
- GLA 1
- GLB1 1
- GLDC 1
- GLDN 1
- GLE1 1
- GLI1 2
- GLI2 1
- GLI3 1
- GLIS3 1
- GLUL 1
- GMNN 3
- GMPPB 1
- GNAI2 3
- GNAI3 1
- GNAO1 1
- GNAS 2
- GNB1 2
- GNB2 3
- GNPAT 1
- GNPTAB 1
- GNPTG 1
- GON4L 2
- GORAB 1
- GPC3 1
- GPC6 3
- GPI 1
- GPSM2 1
- GPX4 2
- GREB1L 4
- GRHL3 1
- GRIN1 3
- GRIN2B 1
- GRIP1 1
- GRM7 2
- GSC 2
- GTF2H5 1
- GTPBP2 2
- GTPBP3 1
- GUCY2C 1
- GUSB 1
- GZF1 3
- H3F3A 4
- HAAO 1
- HADHA 1
- HADHB 2
- HBA1 1
- HBA2 1
- HCCS 1
- HCFC1 1
- HDAC3 3
- HDAC8 1
- HECTD4 2
- HES7 1
- HESX1 3
- HHAT 2
- HIBCH 1
- HIST1H1E 4
- HIVEP2 1
- HK1 2
- HMGA2 2
- HMX1 3
- HNF1B 1
- HNF4A 1
- HNRNPH2 3
- HNRNPK 1
- HNRNPU 4
- HOXA1 1
- HOXA13 1
- HOXD13 1
- HPSE2 1
- HR 1
- HRAS 1
- HS2ST1 2
- HSD17B3 1
- HSD17B4 1
- HSF4 2
- HSPA9 2
- HSPD1 1
- HSPG2 1
- HUWE1 1
- HYAL2 2
- HYLS1 1
- IARS 3
- IBA57 2
- ICK 2
- IDH1 2
- IDS 1
- IDUA 1
- IER3IP1 1
- IFIH1 1
- IFITM5 1
- IFT122 2
- IFT140 1
- IFT172 1
- IFT27 4
- IFT43 1
- IFT52 2
- IFT74 2
- IFT80 1
- IFT81 2
- IGF1 1
- IGF1R 1
- IGF2 1
- IGHMBP2 1
- IHH 1
- IKBKG 1
- IL11RA 1
- IL1RAPL1 1
- IMPAD1 2
- INPP5E 1
- INPPL1 1
- INSR 1
- INTS1 2
- INTS11 2
- INTU 1
- INVS 1
- IQCB1 1
- IRF6 1
- IRX5 3
- ISPD 2
- ITGA3 1
- ITGA6 1
- ITGA8 3
- ITGAV 3
- ITGB4 1
- JAG1 1
- JAM3 3
- KANSL1 1
- KAT6A 1
- KAT6B 1
- KATNB1 2
- KCNC3 3
- KCNJ1 1
- KCNJ2 1
- KCNK3 2
- KCNK9 3
- KCTD1 1
- KDELR2 2
- KDM2B 2
- KDM5C 3
- KDM6A 1
- KIAA0586 1
- KIAA0753 2
- KIAA1109 2
- KIDINS220 6
- KIF11 1
- KIF14 2
- KIF1A 1
- KIF1BP 2
- KIF21A 3
- KIF22 1
- KIF24 2
- KIF26A 2
- KIF2A 3
- KIF4A 2
- KIF5B 2
- KIF5C 3
- KIF7 1
- KLF1 1
- KLHL40 1
- KLHL41 1
- KLHL7 3
- KMT2A 1
- KMT2B 3
- KMT2C 1
- KMT2D 1
- KNL1 2
- KRAS 1
- KRIT1 1
- KYNU 1
- L1CAM 1
- L2HGDH 1
- LAGE3 3
- LAMA1 1
- LAMA2 1
- LAMA5 2
- LAMB1 3
- LAMB2 2
- LAMC3 3
- LARGE1 1
- LARP7 1
- LARS2 2
- LBR 1
- LDB1 3
- LFNG 1
- LGI3 3
- LGI4 1
- LHX3 1
- LHX4 1
- LIFR 3
- LIG4 1
- LIPA 1
- LIPT2 3
- LMBR1 2
- LMBRD1 1
- LMNA 1
- LMNB1 2
- LMNB2 4
- LMOD3 1
- LMX1B 1
- LNPK 2
- LONP1 4
- LOX 4
- LRP2 1
- LRP4 1
- LRP5 1
- LRRC56 2
- LRRC6 2
- LSS 3
- LTBP1 2
- LTBP3 3
- LTBP4 1
- LYST 1
- LZTFL1 1
- LZTR1 1
- MAB21L1 2
- MAB21L2 1
- MACF1 2
- MAF 1
- MAFB 1
- MAGED2 3
- MAGEL2 1
- MAN2C1 2
- MAP2K1 1
- MAP2K2 1
- MAP3K1 1
- MAP3K20 2
- MAP3K7 3
- MAP4K4 2
- MAPK1 4
- MAPKAPK5 2
- MAPRE2 1
- MASP1 1
- MATN3 1
- MAX 2
- MBTPS2 1
- MCIDAS 2
- MCOLN1 1
- MCPH1 1
- MDFIC 3
- MECOM 3
- MED11 3
- MED12 3
- MED13L 3
- MED25 2
- MED27 2
- MEF2C 1
- MEGF10 1
- MEGF8 1
- MEIS2 2
- MEOX1 3
- MESD 2
- MESP2 1
- MFRP 1
- MFSD2A 1
- MGP 1
- MIA3 3
- MID1 1
- MINPP1 2
- MKKS 1
- MKS1 1
- MLC1 1
- MLYCD 1
- MMACHC 1
- MMADHC 1
- MMP13 1
- MMP21 1
- MN1 2
- MNX1 1
- MOCS1 1
- MOCS2 1
- MOGS 3
- MPDU1 1
- MPDZ 2
- MPLKIP 1
- MRAS 2
- MRPS22 1
- MSL2 3
- MSL3 1
- MSMO1 2
- MSTO1 5
- MSX1 1
- MSX2 1
- MTFMT 2
- MTM1 2
- MTO1 1
- MTOR 1
- MUSK 1
- MYBBP1A 3
- MYBPC1 1
- MYCN 1
- MYH10 1
- MYH11 2
- MYH2 2
- MYH3 2
- MYH6 3
- MYH7 2
- MYH8 1
- MYL1 2
- MYL9 5
- MYMK 2
- MYO18B 2
- MYO9A 2
- MYOCD 2
- MYOD1 4
- MYPN 2
- MYRF 2
- MYT1 1
- NAA10 1
- NACC1 1
- NADSYN1 2
- NAGA 1
- NALCN 1
- NANS 1
- NBAS 1
- NBN 1
- NDE1 1
- NDP 2
- NDUFA6 2
- NDUFAF5 1
- NDUFAF8 2
- NDUFB10 4
- NDUFB11 4
- NDUFB3 2
- NDUFB7 4
- NDUFS1 3
- NEB 1
- NECTIN1 2
- NECTIN4 1
- NEDD4L 3
- NEK1 1
- NEK8 3
- NEK9 3
- NEPRO 3
- NEU1 1
- NEXN 5
- NF1 1
- NFIA 2
- NFIB 2
- NFIX 1
- NHEJ1 1
- NHS 1
- NIPAL4 2
- NIPBL 1
- NKX2-5 1
- NKX3-2 1
- NLRP3 3
- NOG 1
- NONO 6
- NOTCH1 1
- NOTCH2 1
- NPC1 1
- NPC2 1
- NPHP1 1
- NPHP3 1
- NPHP4 1
- NPHS1 1
- NPR2 1
- NR0B1 1
- NR2F1 4
- NR2F2 1
- NR5A1 1
- NRAS 1
- NSD1 1
- NSDHL 1
- NSRP1 2
- NSUN6 2
- NUBPL 1
- NUDT2 2
- NUP107 1
- NUP188 2
- NXN 2
- OBSL1 1
- OCLN 1
- OCRL 2
- ODC1 3
- OFD1 1
- OPHN1 1
- ORC1 1
- ORC4 1
- ORC6 1
- OSGEP 3
- OSTM1 1
- OTUD5 3
- OTUD6B 3
- OTX2 2
- P3H1 1
- P4HB 3
- PACS1 3
- PACS2 2
- PAFAH1B1 1
- PAICS 5
- PAK2 3
- PAK3 1
- PALB2 1
- PAN2 2
- PAPSS2 1
- PARN 1
- PAX1 2
- PAX2 1
- PAX3 1
- PAX6 1
- PAX7 2
- PAX8 1
- PBX1 2
- PC 3
- PCDH12 2
- PCGF2 1
- PCNT 1
- PCYT1A 1
- PDCD10 1
- PDE3A 2
- PDE4D 1
- PDGFRB 1
- PDHA1 2
- PDHB 4
- PDHX 3
- PEPD 1
- PET100 3
- PEX1 1
- PEX10 1
- PEX11B 1
- PEX12 1
- PEX13 1
- PEX14 1
- PEX16 1
- PEX19 1
- PEX2 1
- PEX26 1
- PEX3 1
- PEX5 1
- PEX6 3
- PEX7 1
- PFKM 2
- PGAP1 3
- PGAP2 1
- PGAP3 1
- PGM1 1
- PGM3 3
- PHF21A 3
- PHF5A 3
- PHF6 3
- PHF8 1
- PHGDH 1
- PHIP 1
- PHOX2B 1
- PI4K2A 2
- PI4KA 4
- PIBF1 2
- PIDD1 2
- PIEZO1 2
- PIEZO2 1
- PIGA 1
- PIGG 5
- PIGH 2
- PIGL 1
- PIGN 3
- PIGO 1
- PIGP 3
- PIGS 4
- PIGT 1
- PIGV 1
- PIGW 3
- PIH1D3 2
- PIK3C2A 2
- PIK3CA 1
- PIK3R1 1
- PIK3R2 1
- PIP5K1C 2
- PITX1 3
- PITX2 1
- PITX3 1
- PKD1 3
- PKD1L1 1
- PKD2 1
- PKDCC 2
- PKHD1 1
- PKLR 1
- PLAA 5
- PLAG1 2
- PLCB4 3
- PLEC 2
- PLG 2
- PLK4 1
- PLOD1 1
- PLOD2 1
- PLPBP 3
- PLS3 2
- PLXND1 2
- PMM2 1
- PNKP 1
- PNPLA1 3
- PNPLA8 2
- POC1A 1
- POGZ 1
- POLE 3
- POLG2 2
- POLR1A 3
- POLR1B 2
- POLR1C 1
- POLR1D 1
- POLR3A 1
- POLR3B 1
- POMGNT1 1
- POMGNT2 1
- POMK 1
- POMT1 1
- POMT2 1
- POP1 2
- POR 1
- PORCN 1
- POU1F1 1
- PPFIA3 3
- PPFIBP1 3
- PPIB 1
- PPIL1 2
- PPP1CB 1
- PPP2CA 2
- PPP2R1A 1
- PPP2R3C 2
- PPP2R5D 1
- PPP3CA 3
- PQBP1 1
- PRF1 2
- PRG4 1
- PRIM1 3
- PRKACA 3
- PRKACB 3
- PRKAG2 2
- PRKAR1A 1
- PRKD1 3
- PRMT7 1
- PRR12 2
- PRRX1 2
- PRSS56 1
- PRUNE1 3
- PSAP 1
- PSAT1 6
- PSKH1 3
- PSMF1 2
- PSPH 1
- PTCH1 1
- PTDSS1 1
- PTEN 4
- PTF1A 1
- PTH1R 1
- PTHLH 1
- PTPN11 1
- PTPN14 3
- PTPN23 2
- PTS 1
- PUF60 1
- PUM1 2
- PUS3 3
- PXDN 3
- PYCR1 1
- PYGM 2
- QRICH1 1
- QRSL1 2
- RAB11A 6
- RAB11B 5
- RAB18 1
- RAB23 1
- RAB33B 2
- RAB34 2
- RAB3GAP1 1
- RAB3GAP2 1
- RAC1 1
- RAC3 2
- RAD21 1
- RAD50 2
- RAD51 3
- RAF1 1
- RAI1 1
- RAP1B 3
- RAPSN 1
- RARB 1
- RARS2 1
- RASA1 2
- RAX 1
- RBBP8 2
- RBM10 3
- RBM8A 1
- RBP4 1
- RBPJ 1
- RECQL4 1
- RELN 1
- REN 1
- RERE 1
- RET 1
- RFT1 3
- RFWD3 4
- RFX6 1
- RIPK4 1
- RIPPLY2 3
- RIT1 1
- RLIM 3
- RMND1 3
- RMRP 2
- RNASEH2A 1
- RNASEH2B 1
- RNASEH2C 1
- RNASET2 1
- RNF113A 2
- RNF125 2
- RNU12 2
- RNU4-2 2
- RNU4ATAC 1
- RNU5B-1 3
- ROBO1 4
- ROBO3 3
- ROGDI 1
- ROR2 1
- RPGRIP1L 1
- RPL10 2
- RPL11 1
- RPL13 2
- RPL15 2
- RPL26 3
- RPL35A 3
- RPL5 1
- RPS10 1
- RPS17 1
- RPS19 1
- RPS24 3
- RPS26 1
- RPS6KA3 1
- RPS7 2
- RRAGC 2
- RRAS 4
- RRAS2 2
- RRM2B 1
- RSPH4A 4
- RSPH9 4
- RSPO2 2
- RSPRY1 3
- RTEL1 1
- RTTN 1
- RUNX2 1
- RYR1 1
- SALL1 1
- SALL4 1
- SAMD9 1
- SAMHD1 1
- SASS6 3
- SATB2 1
- SBDS 1
- SC5D 1
- SCAF4 2
- SCARF2 1
- SCLT1 3
- SCN1A 2
- SCN2A 1
- SCN3A 3
- SCN4A 3
- SCN5A 1
- SCO2 1
- SCUBE3 5
- SCYL2 2
- SDCCAG8 1
- SDR9C7 3
- SEC23B 1
- SEC24D 4
- SEMA3A 2
- SENP7 3
- SEPSECS 1
- SERPINF1 2
- SERPINH1 2
- SETBP1 1
- SETD1A 3
- SETD2 3
- SETD5 2
- SF3B4 1
- SGCG 2
- SGPL1 1
- SH3PXD2B 1
- SHANK3 3
- SHH 1
- SHMT2 2
- SHOC2 1
- SHOX 2
- SIK3 2
- SIL1 1
- SIN3A 3
- SIX3 1
- SIX5 2
- SIX6 2
- SKI 1
- SKIV2L 4
- SLC10A7 1
- SLC12A1 2
- SLC12A6 3
- SLC12A9 3
- SLC13A5 1
- SLC16A2 1
- SLC17A5 1
- SLC18A3 2
- SLC20A1 4
- SLC25A19 3
- SLC25A20 1
- SLC25A24 2
- SLC25A38 1
- SLC25A4 3
- SLC25A46 2
- SLC26A2 1
- SLC26A3 1
- SLC27A4 1
- SLC29A3 2
- SLC2A10 1
- SLC33A1 1
- SLC34A1 2
- SLC35A2 1
- SLC35A3 3
- SLC35C1 1
- SLC35D1 1
- SLC39A8 1
- SLC4A10 2
- SLC5A7 3
- SLC6A9 3
- SLX4 1
- SMAD2 2
- SMAD3 2
- SMAD4 1
- SMARCA2 1
- SMARCA4 1
- SMARCB1 1
- SMARCC1 4
- SMARCD1 2
- SMARCE1 3
- SMC1A 1
- SMC3 1
- SMCHD1 1
- SMG9 4
- SMN1 2
- SMO 1
- SMOC1 1
- SMPD4 2
- SMS 3
- SNAP25 3
- SNF8 2
- SNORD118 1
- SNRPB 1
- SNX10 2
- SNX14 1
- SON 1
- SOS1 1
- SOS2 1
- SOST 1
- SOX10 1
- SOX11 3
- SOX17 1
- SOX18 2
- SOX2 1
- SOX3 1
- SOX6 2
- SOX9 1
- SP7 2
- SPAG1 1
- SPARC 3
- SPATA5 2
- SPECC1L 3
- SPEG 1
- SPEN 2
- SPG11 1
- SPINT2 2
- SPOUT1 3
- SPRED1 1
- SPTA1 5
- SPTB 2
- SRCAP 1
- SRD5A2 1
- SRD5A3 1
- SRPK3 3
- SRY 2
- ST14 3
- STAC3 2
- STAG2 1
- STAMBP 1
- STAR 1
- STIL 3
- STRA6 1
- STRADA 2
- STT3A 2
- STX5 4
- SUCLG1 1
- SUFU 3
- SULT2B1 2
- SUMF1 1
- SUZ12 1
- SYNE1 2
- TAB2 2
- TAF1 1
- TAF8 2
- TALDO1 1
- TAPT1 1
- TAZ 2
- TBC1D20 1
- TBC1D23 1
- TBC1D24 1
- TBC1D32 3
- TBCD 1
- TBCE 1
- TBCK 1
- TBL1XR1 1
- TBR1 3
- TBX1 1
- TBX15 1
- TBX18 1
- TBX20 1
- TBX3 1
- TBX4 1
- TBX5 1
- TBX6 1
- TCF12 1
- TCF4 1
- TCIRG1 1
- TCOF1 1
- TCP1 3
- TCTEX1D2 3
- TCTN1 1
- TCTN2 1
- TCTN3 1
- TELO2 3
- TENM3 2
- TFAP2A 1
- TFAP2B 1
- TGDS 1
- TGFB2 1
- TGFB3 1
- TGFBR1 1
- TGFBR2 1
- TGIF1 1
- TGM1 1
- THOC2 2
- THOC6 1
- THRA 1
- THSD1 4
- TINF2 1
- TK2 5
- TMCO1 1
- TMEM107 2
- TMEM138 1
- TMEM165 1
- TMEM216 3
- TMEM218 2
- TMEM231 1
- TMEM237 1
- TMEM260 5
- TMEM38B 2
- TMEM5 1
- TMEM67 1
- TMEM70 3
- TMEM94 2
- TMEM98 2
- TMTC3 3
- TMX2 2
- TNNI2 1
- TNNT1 1
- TNNT3 2
- TOE1 3
- TOGARAM1 3
- TONSL 2
- TOP3A 1
- TOR1A 2
- TOR1AIP1 2
- TP63 1
- TP73 2
- TPM2 1
- TPM3 1
- TRAF3IP1 3
- TRAF7 1
- TRAIP 4
- TRAP1 3
- TRAPPC12 3
- TRAPPC9 1
- TREX1 1
- TRIM37 1
- TRIM71 2
- TRIP11 1
- TRIP12 1
- TRIP4 1
- TRIT1 3
- TRMT10A 3
- TRPS1 1
- TRPV4 1
- TRPV6 1
- TRRAP 2
- TSC1 1
- TSC2 1
- TSEN15 3
- TSEN2 4
- TSEN34 5
- TSEN54 1
- TSFM 3
- TSHZ3 2
- TTC21B 1
- TTC37 2
- TTC7A 1
- TTC8 1
- TTN 1
- TUBA1A 1
- TUBB 1
- TUBB2A 1
- TUBB2B 1
- TUBB3 4
- TUBB4A 1
- TUBG1 4
- TUBGCP4 4
- TUBGCP6 1
- TWIST1 1
- TWIST2 2
- TXNDC15 3
- TXNL4A 1
- U2AF2 2
- UBA1 1
- UBA2 2
- UBE2T 4
- UBE3B 1
- UBR1 1
- UBR7 2
- UFSP2 2
- UMPS 1
- UNC13D 5
- UQCRFS1 2
- UROS 1
- USP14 2
- USP18 2
- USP9X 4
- VAMP1 3
- VEGFC 3
- VIPAS39 1
- VLDLR 1
- VPS13B 1
- VPS33B 1
- VPS4A 1
- VPS53 1
- VRK1 4
- VSX2 1
- WASHC5 3
- WBP11 2
- WBP4 2
- WDPCP 1
- WDR19 1
- WDR26 1
- WDR34 2
- WDR35 1
- WDR37 2
- WDR4 2
- WDR44 2
- WDR47 3
- WDR60 2
- WDR62 1
- WDR73 4
- WDR81 2
- WLS 3
- WNT1 1
- WNT10B 1
- WNT5A 1
- WNT7A 1
- WNT7B 2
- WRAP53 1
- WT1 1
- WWOX 3
- XRCC4 1
- XYLT1 2
- XYLT2 4
- YY1 1
- ZBTB18 1
- ZBTB20 1
- ZC4H2 1
- ZEB1 3
- ZEB2 1
- ZFP57 2
- ZFX 2
- ZIC1 1
- ZIC2 1
- ZIC3 1
- ZMIZ1 2
- ZMPSTE24 1
- ZMYM2 4
- ZMYND10 4
- ZNF335 2
- ZNF462 3
- ZNF526 2
- ZNF699 2
- ZRSR2 2
- ZSWIM6 4
- AARS 4
- AASS 1
- ABCD4 3
- ABHD16A 2
- ACO2 4
- ACVR1 3
- ADAMTS19 1
- AIFM1 1
- ALG11 3
- ALG13 3
- ANKLE2 2
- ANKRD17 2
- ANKRD26 1
- AP3B2 1
- AP4M1 3
- ARF1 2
- ARV1 3
- ASCC3 4
- ASXL2 2
- ATP11C 2
- ATP1A3 3
- AXIN1 2
- B9D1 5
- BAIAP2 2
- BANF1 1
- BCAS3 2
- BCL9L 1
- BHLHE22 3
- BICRA 2
- BLOC1S6 1
- BOLA3 1
- BRF1 1
- C14orf80 2
- C1GALT1C1 2
- CA5A 1
- CACHD1 2
- CACNA1A 3
- CACNA1D 4
- CALCRL 4
- CAMK2A 1
- CAMK2B 3
- CAMTA1 3
- CAPN15 2
- CAPRIN1 2
- CARS2 1
- CCDC78 1
- CCT3 2
- CCT8 2
- CD40LG 2
- CD96 1
- CDH11 2
- CELSR3 2
- CFI 2
- CHAF1A 2
- CHD3 3
- CHD8 3
- CHRM3 2
- CHRNB2 1
- CITED2 1
- CLCNKB 4
- CLPP 3
- CNKSR2 1
- CNTN1 3
- COA6 1
- COL27A1 2
- COLGALT1 2
- COPB2 2
- COX14 1
- CPAMD8 3
- CRELD1 3
- CSMD1 2
- CTDP1 3
- CUL3 2
- CUX2 1
- CWF19L1 2
- CYB5R3 3
- DAND5 2
- DCDC2 3
- DGUOK 1
- DHDDS 1
- DHTKD1 1
- DLG4 3
- DNAJC12 1
- DNAJC19 3
- DNAJC21 2
- DNM1 1
- DOCK7 2
- DOHH 4
- DRC1 3
- DSG1 1
- DVL2 4
- EDN1 1
- EDN3 2
- EEF1A2 1
- EFEMP1 2
- EIF3B 2
- EIF3F 2
- ELMO2 1
- EMC1 3
- EMILIN1 2
- ERG 2
- EXOSC5 3
- EXOSC9 2
- FAM177A1 2
- FANCM 1
- FBXO22 2
- FBXW11 3
- FEZF1 1
- FGF16 2
- FGF9 3
- FKBP8 3
- FLII 3
- FMN2 1
- FOXI3 2
- FOXL2 1
- FOXP2 2
- FRRS1L 1
- FRYL 2
- FUCA1 1
- FZD6 4
- G6PD 4
- GABRA1 1
- GABRB2 3
- GABRG2 1
- GATA5 4
- GDF2 4
- GFM2 1
- GLMN 3
- GM2A 1
- GNA11 3
- GNA14 3
- GNB5 1
- GNPNAT1 2
- GNS 4
- GPC4 2
- GPKOW 3
- GRHL2 1
- GRIN2D 1
- GSPT2 1
- GTF2E2 1
- GTPBP1 4
- HECTD1 2
- HERC1 2
- HGSNAT 1
- HIRA 2
- HIST1H4C 4
- HOXB1 1
- HPD 1
- IGFBP7 1
- IKZF1 2
- INPP5K 3
- INTS13 2
- IQCE 2
- JPH1 2
- KAT5 1
- KBTBD2 2
- KCNB1 3
- KCNH1 3
- KCNH2 2
- KCNJ8 3
- KCNN3 2
- KCNQ5 1
- KCNT1 4
- KDM1A 5
- KDM5A 2
- KDM6B 2
- KDR 2
- KIAA0556 4
- KIAA0825 2
- KIF21B 2
- KMT2E 3
- KPTN 3
- KRT74 1
- LIAS 1
- LINC01081 2
- LINC01082 2
- LINS1 3
- LIPT1 1
- LRIG2 4
- LRRC8C 2
- LRRK1 2
- LSM11 2
- MAL 2
- MAMLD1 3
- MAN1B1 1
- MAN2B2 2
- MANBA 2
- MAP1B 2
- MAPK8IP3 2
- MAST1 2
- MAT1A 1
- MBOAT7 3
- MBTPS1 1
- MDH2 1
- MECR 1
- MED17 3
- MGAT2 3
- MIR17HG 3
- MITF 3
- MMP15 4
- MMP2 2
- MNS1 2
- MPC1 1
- MPC2 1
- MPL 2
- MPZ 3
- MRPS14 2
- MRPS16 2
- MRPS34 1
- MTPAP 1
- MT-TE 2
- MT-TL1 2
- MVK 2
- MYBPC3 4
- MYL2 2
- MYLK 2
- MYSM1 1
- NAA15 3
- NADK2 1
- NAGLU 3
- NAXE 1
- NCAPD2 2
- NDUFA10 1
- NDUFAF2 1
- NDUFC2 1
- NDUFV2 1
- NEUROD1 2
- NEXMIF 1
- NHP2 3
- NID1 1
- NKX6-2 1
- NMNAT1 3
- NMNAT2 3
- NOVA2 3
- NPNT 2
- NSD2 2
- NTRK2 1
- NUP214 4
- NUP62 1
- NUP88 4
- NUS1 1
- ORAI1 2
- PAM16 2
- PARP6 2
- PDCD2 2
- PDE10A 1
- PDE12 3
- PDE6D 1
- PDE6H 1
- PDSS1 1
- PHEX 2
- PHLDB1 2
- PIGC 2
- PIGM 2
- PIGQ 2
- PIGY 3
- PISD 2
- PKP2 2
- PLCB1 1
- PLD1 5
- PLOD3 3
- PLVAP 2
- POLD1 3
- POLG 2
- POU3F3 2
- PREPL 1
- PRKG2 2
- PROC 2
- PSMC3 2
- PTBP1 2
- PTH 1
- PYCR2 1
- PYROXD1 1
- QARS 4
- RAD51C 3
- RBFOX2 2
- RHOA 2
- RIN2 3
- RINT1 2
- RNU5A-1 2
- RORA 1
- RPS23 1
- SACS 1
- SCNN1B 2
- SCYL1 1
- SECISBP2 1
- SEL1L 2
- SET 1
- SF3B2 2
- SFXN4 1
- SGSH 1
- SH3BP2 2
- SHANK1 1
- SHANK2 1
- SHROOM3 3
- SIAH1 2
- SIRT6 4
- SLC19A1 2
- SLC1A2 1
- SLC22A5 4
- SLC25A1 1
- SLC25A22 1
- SLC25A26 3
- SLC30A5 2
- SLC30A7 2
- SLC34A3 2
- SLC35A1 3
- SLC45A1 1
- SLC4A1 3
- SLC6A17 1
- SMPD1 3
- SNAP29 5
- SNAPC4 2
- SNAPIN 1
- SNUPN 2
- SOX5 1
- SPIN4 2
- SPRED2 2
- SPTAN1 1
- SRP54 3
- ST3GAL3 1
- ST3GAL5 2
- STAT3 2
- STAT5B 1
- STIM1 1
- STX11 2
- STX1B 1
- SUCLA2 1
- SYN1 1
- SYT2 2
- SZT2 3
- TACO1 1
- TAF13 1
- TBC1D1 2
- TBX22 3
- TCF20 4
- TECPR2 1
- TKT 1
- TLK2 2
- TLL1 7
- TMEM65 1
- TNFRSF11A 2
- TOMM7 2
- TPM1 2
- TRAPPC11 2
- TRIM32 1
- TRIO 3
- TRIP13 1
- TRMT10C 1
- TRNT1 2
- TRPV3 1
- TTC25 4
- TUBA8 4
- TUBGCP2 2
- TUFM 3
- TXN2 1
- UBTF 1
- UNC50 2
- UQCC2 3
- UQCRB 1
- UQCRQ 1
- USP27X 1
- VARS2 1
- VDR 1
- WARS2 1
- WNT3 1
- WNT4 1
- WNT9B 4
- WSB2 1
- XPNPEP3 2
- YAP1 3
- YIF1B 2
- YWHAG 1
- ZBTB24 2
- ZFPM2 3
- ZMYND11 3
- ZMYND8 2
- ZNF423 3
- ZNHIT3 4
- ZNRF3 2
- ZSCAN10 2
- ABCB11 1
- ABCB7 1
- ABCC8 1
- ABCD1 1
- ACADM 1
- ACADS 1
- ACAT1 1
- ACSL4 3
- ACTN2 2
- ADA 1
- AFF2 1
- AGA 1
- AGPAT2 1
- AGXT 1
- AIMP1 3
- AIPL1 1
- AIRE 1
- AK2 1
- AKR1D1 1
- ALAD 1
- ALB 2
- ALDH4A1 1
- ALDH5A1 1
- ALDOB 1
- ALG5 2
- ALS2 1
- AMBRA1 4
- ANO5 1
- AP3B1 1
- APOPT1 2
- APTX 1
- ARG1 1
- ARPC5 2
- ASL 1
- ASPH 5
- ATM 1
- ATP13A2 1
- ATP6V1B1 1
- ATP6V1B2 3
- ATP8B1 1
- AUH 1
- AUTS2 3
- BCKDHA 1
- BCKDHB 1
- BORCS8 2
- BPTF 3
- BRD2 2
- BRWD3 1
- C2orf71 1
- C4orf26 1
- CAD 1
- CAVIN1 1
- CBS 1
- CC2D1A 1
- CCDC115 2
- CCDC65 2
- CCNO 1
- CCT6A 2
- CD151 3
- CHD2 1
- CHRDL1 1
- CHRNA4 1
- CIB2 1
- CISD2 1
- CLCN5 3
- CLDN19 1
- CLMP 3
- CLN3 1
- CLN5 1
- CLN6 1
- CLN8 1
- CNBP 2
- COL4A3 1
- COL4A4 1
- COL5A1 1
- COL5A2 1
- COL9A3 3
- COQ8A 1
- COX10 1
- COX15 1
- COX6B1 1
- CPS1 1
- CRB1 1
- CRX 1
- CSTA 3
- CSTB 1
- CTNS 1
- CTSC 2
- CYC1 1
- CYP19A1 1
- CYP24A1 2
- CYP27B1 2
- CYP2R1 2
- D2HGDH 2
- DBT 1
- DDB2 1
- DDC 1
- DDHD1 1
- DDHD2 1
- DDOST 1
- DDX17 2
- DDX6 3
- DEAF1 3
- DET1 1
- DHH 1
- DICER1 2
- DLAT 1
- DLD 1
- DLG3 1
- DLX3 2
- DMP1 1
- DMPK 3
- DNAH2 1
- DOCK8 1
- DSC2 2
- DSPP 1
- DTNA 2
- DUSP6 1
- EDA 3
- EDAR 1
- EGR2 1
- EPHX1 1
- ERCC6L2 1
- ETHE1 1
- EXPH5 3
- FAM161A 1
- FARS2 1
- FBP1 1
- FBXO11 1
- FERMT3 2
- FGD4 1
- FGF12 1
- FGF17 1
- FGF20 1
- FGF23 2
- FGG 2
- FHL1 1
- FLAD1 1
- FLCN 2
- FLRT3 1
- FMR1 1
- FOXN1 1
- FOXP1 1
- FRMD7 1
- FRMPD4 3
- FTCD 1
- FTSJ1 1
- FZD5 4
- GABRB3 1
- GALNT3 2
- GAMT 1
- GAS8 2
- GATAD2B 1
- GATM 1
- GCH1 1
- GDAP1 2
- GDI1 1
- GJB2 2
- GK 1
- GLIS2 3
- GLUD1 1
- GMPPA 1
- GNAI1 3
- GNAQ 3
- GPAA1 3
- GRIA3 1
- GRIK2 1
- GRIN2A 1
- GRM1 3
- GRM6 1
- GUK1 2
- H19 2
- HACE1 1
- HADH 1
- HAX1 1
- HCN1 1
- HDAC4 1
- HEATR3 2
- HECW2 1
- HEXA 1
- HEXB 1
- HINT1 1
- HLCS 1
- HMGB1 2
- HMGCL 1
- HMGCS2 1
- HOXA2 1
- HOXC13 1
- HPGD 1
- HPRT1 1
- HPS1 1
- HSD17B10 1
- HSD3B7 1
- HYAL1 1
- HYDIN 1
- IDH2 2
- IGSF1 1
- IL17RD 1
- IL1RN 2
- IQSEC2 1
- IRF4 2
- ITCH 3
- ITGA7 1
- ITPR1 3
- IVD 1
- JAGN1 1
- JAK3 1
- KARS 2
- KAT7 2
- KBTBD13 1
- KCNA2 1
- KCNC1 1
- KCNE1 1
- KCNJ10 1
- KCNJ11 1
- KCNJ6 3
- KCNQ1 3
- KCNQ2 1
- KCNQ3 1
- KCTD7 1
- KISS1R 1
- KIT 1
- KMT5B 1
- LAMA3 1
- LAMB3 1
- LAMC2 1
- LAMP2 1
- LDB3 1
- LEMD3 1
- LIPN 5
- LMOD1 2
- LPIN2 2
- LRAT 3
- LRBA 3
- LRIT3 3
- LRPPRC 1
- LTBP2 1
- MAN2B1 1
- MAOA 1
- MAP3K3 2
- MAPKBP1 2
- MC2R 1
- MCCC1 1
- MCCC2 1
- MCEE 1
- MECP2 1
- MET 2
- MFSD8 1
- MICU1 1
- MLH1 1
- MMAA 1
- MMAB 1
- MPI 1
- MPV17 1
- MRE11 1
- MSH2 1
- MSH6 1
- MTHFR 1
- MTR 1
- MTRR 1
- MT-TP 1
- MTX2 1
- MUT 2
- MYBPC2 1
- MYH9 4
- MYO5A 1
- MYO5B 1
- MYO7A 1
- MYT1L 1
- NAGS 3
- NARS 2
- NDUFA1 1
- NDUFA12 1
- NDUFS4 1
- NDUFS7 1
- NDUFS8 1
- NDUFV1 1
- NFASC 2
- NFU1 1
- NGLY1 1
- NKX2-1 1
- NKX2-6 4
- NODAL 4
- NPHS2 1
- NPL 2
- NPR3 2
- NPRL2 2
- NPRL3 2
- NRXN2 3
- NSMF 1
- NSUN2 3
- NT5C2 1
- NT5C3A 1
- NT5E 2
- NTRK1 1
- NUAK2 4
- NYX 1
- OSBPL9 2
- OTC 1
- OTOGL 1
- OTULIN 1
- OXCT1 1
- PAH 1
- PAX9 1
- PCBD1 1
- PCCA 1
- PCCB 1
- PCDH19 1
- PDE6G 1
- PDSS2 1
- PGK1 1
- PLA2G6 1
- PLCE1 1
- PLP1 1
- PMP22 1
- PMS2 1
- PNPT1 1
- POC1B 1
- PPA2 1
- PPM1D 1
- PPP1R12A 2
- PPP1R13L 2
- PPT1 1
- PRDM12 1
- PRKCSH 2
- PROK2 1
- PROKR2 1
- PROP1 1
- PRPS1 1
- PRRT2 1
- PRSS12 1
- PRX 2
- PSMB8 1
- PSMB9 2
- PTCHD1 1
- PURA 3
- PYGL 3
- QDPR 1
- RAB39B 1
- RASGRP2 2
- RETREG1 1
- RHEB 2
- RNF31 2
- ROBO2 2
- RPE65 1
- RPGRIP1 1
- RSPH1 1
- RSPH3 1
- RSPO4 1
- RTN4IP1 1
- SCN11A 1
- SCN1B 1
- SCN7A 1
- SCN8A 1
- SCNN1A 2
- SCNN1G 2
- SCO1 1
- SDHA 1
- SDHAF1 1
- SDHD 1
- SELENON 2
- SERPINA11 4
- SFRP4 2
- SGCA 1
- SGMS2 2
- SHROOM4 4
- SIK1 1
- SIM1 1
- SIX1 1
- SLC19A3 1
- SLC24A4 3
- SLC25A15 1
- SLC2A1 1
- SLC2A2 1
- SLC37A4 1
- SLC39A13 1
- SLC46A1 1
- SLC4A11 1
- SLC4A4 1
- SLC52A2 1
- SLC52A3 1
- SLC5A5 2
- SLC6A1 1
- SLC6A3 1
- SLC6A5 1
- SLC6A8 1
- SLC9A6 1
- SLCO2A1 2
- SMAD6 2
- SMARCAL1 3
- SMOC2 3
- SNRPE 3
- SP110 1
- SPR 1
- SPRY4 1
- SPTBN2 1
- SPTBN5 2
- SPTLC2 1
- STAG1 3
- STAT1 2
- STK4 2
- STS 1
- STT3B 1
- STXBP1 1
- STXBP2 2
- SUPT7L 2
- SURF1 1
- SYNGAP1 1
- SYP 1
- TAAR1 2
- TAC3 3
- TACR3 3
- TANGO2 1
- TAOK1 2
- TAT 1
- TBXAS1 1
- TCN2 1
- TEK 1
- TERT 1
- TG 2
- TGFB1 1
- TH 1
- THAP1 1
- TIMM8A 1
- TMEM126B 1
- TMPRSS6 1
- TNFRSF11B 1
- TNFRSF13B 3
- TNFSF11 2
- TNRC6B 2
- TNXB 1
- TOP2B 2
- TPO 2
- TPP1 1
- TRAPPC2 1
- TREM2 2
- TRMU 1
- TRPM1 1
- TRPM7 4
- TSHB 1
- TSHR 3
- TSPAN7 1
- TTC19 1
- TTI2 3
- TULP3 2
- TUSC3 1
- TYR 1
- TYROBP 2
- TYRP1 1
- UBA5 1
- UBE2A 1
- UBE3A 1
- UFC1 1
- UFM1 1
- UGT1A1 1
- UNC45A 2
- UNC80 1
- UPF3B 1
- UROC1 1
- USB1 1
- UVSSA 1
- VHL 2
- WAC 1
- WDR11 1
- WDR45 1
- WDR91 2
- WISP3 2
- XPA 1
- XPC 1
- YIPF5 2
- YRDC 2
- ZDHHC9 1
- ZFYVE26 1
- ZNF3 1
- ZNF687 2
- ZNF711 1
- ZNF750 3
- ZNF808 2
- CDH23 1
- CHM 1
- DMD 1
- GJB3 1
- MYO15A 1
- NLGN3 1
- NRXN1 1
- PNPLA2 1
Fetal anomalies
Gene: PKP2 Amber List (moderate evidence)
PKP2 (plakophilin 2)
EnsemblGeneIds (GRCh38): ENSG00000057294
EnsemblGeneIds (GRCh37): ENSG00000057294
OMIM: 602861, Gene2Phenotype
PKP2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000057294
EnsemblGeneIds (GRCh37): ENSG00000057294
OMIM: 602861, Gene2Phenotype
PKP2 is in 10 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36
Esther Kinning (NHS Greater Glasgow and Clyde)
I don't know
One reported biallelic case with hydrops, can cause adult onset ARVC when dominant. Amber to watch for more cases of hydropsCreated: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe cardiomyopathy with left ventricular noncompaction
Publications
Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- Phenotypes
-
- Severe cardiomyopathy with left ventricular noncompaction
- OMIM
- 602861
- Clinvar variants
- Variants in PKP2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Palmoplantar keratodermas
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Dilated and arrhythmogenic cardiomyopathy
- Short QT syndrome
- Fetal anomalies
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Brugada syndrome and cardiac sodium channel disease
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
29 Aug 2024, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: PKP2 was added gene: PKP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PKP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKP2 were set to 33082562 Phenotypes for gene: PKP2 were set to Severe cardiomyopathy with left ventricular noncompaction