- Panels
- Early onset or syndromic epilepsy
- PRICKLE2
- 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
- BSCL2 3
- BTD 8
- C12orf57 4
- 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
- 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 5
- CSNK2B 4
- CSTB 9
- CTNNA2 4
- CTSD 7
- 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
- EFTUD2 3
- EHMT1 7
- EIF2B1 4
- EIF2B2 3
- EIF2B3 4
- EIF2B4 3
- EIF2B5 3
- EIF2S3 3
- EIF3F 4
- EIF4A2 2
- EMC10 3
- EML1 2
- ENTPD1 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
- 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
- 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
- GTPBP2 5
- H3F3A 7
- H3F3B 8
- HACE1 3
- HAX1 4
- HCFC1 4
- HCN1 7
- HCN2 6
- 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
- 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
- KCNH1 1
- KCNH5 7
- KCNJ10 7
- KCNJ11 4
- KCNK4 4
- KCNMA1 13
- KCNQ2 7
- KCNQ3 7
- KCNQ5 5
- KCNT1 8
- KCNT2 5
- KCTD3 4
- KCTD7 7
- KDM6B 3
- KIAA1109 5
- KIF1A 4
- KIF2A 3
- KIF5C 4
- KLHL20 3
- KMT2E 5
- KPTN 5
- KRAS 4
- LARS 3
- LETM1 3
- LGI1 10
- LIAS 4
- LMBRD2 4
- LNPK 6
- MACF1 4
- MADD 3
- MAF 3
- MAP2K1 4
- MAP2K2 4
- 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
- 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
- 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
- PNPO 8
- PNPT1 3
- POLG 8
- POMGNT1 4
- POMT1 4
- PPFIBP1 3
- PPIL1 2
- PPP1R3F 3
- PPP2CA 4
- 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
- RNU4-2 5
- 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
- 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
- TBC1D24 8
- TBC1D2B 3
- TBCD 3
- TBCK 3
- TBL1XR1 7
- TCF4 7
- TDP2 3
- TFE3 6
- TIAM1 3
- TIMM50 6
- 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
- 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
- UBR7 2
- UFM1 4
- UFSP2 3
- UGDH 3
- UGP2 5
- UNC80 4
- USP18 2
- VAMP2 4
- VARS 5
- VPS11 4
- WARS2 4
- WASF1 3
- WDR37 2
- WDR45 7
- WDR45B 4
- 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
- ADAM22 4
- ADAT3 4
- ADD1 2
- ADGRL1 1
- AIMP2 6
- AJAP1 2
- ASTN1 3
- ATP2B1 4
- ATP5A1 5
- ATP6AP2 3
- BAIAP2 2
- BLOC1S1 2
- BORCS5 1
- BORCS8 2
- BRSK1 2
- BSN 2
- C12orf66 2
- CACNA1H 8
- CACNA2D1 3
- CAMK2D 1
- CCDC88C 3
- CCT8 1
- CDC42BPB 3
- CDK5 1
- 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
- CRNKL1 3
- CSNK1G1 8
- CTSF 3
- CTU2 1
- CYP27A1 4
- DALRD3 2
- DENND5B 1
- DHCR24 3
- DHCR7 3
- DHRSX 6
- DHX16 2
- DNAJC5 1
- DPM2 5
- EEFSEC 1
- EFHC1 7
- EIF2AK2 1
- ELFN1 1
- EMX2 6
- EPB41L3 2
- EXOC7 1
- FAM50A 2
- FDFT1 3
- FH 4
- FKRP 4
- GCH1 4
- GFM1 3
- GLI3 4
- GLRA1 8
- GLS 3
- GLYCTK 3
- GSS 3
- GTF3C3 4
- GTPBP3 4
- GUF1 2
- HCCS 4
- HEATR5B 2
- HLCS 8
- HOXA1 3
- HPRT1 4
- HSPD1 4
- INPP4A 7
- ISPD 5
- JAKMIP1 2
- JKAMP 1
- KATNB1 3
- KCNB2 1
- KCND3 2
- KDM2A 1
- KIF1BP 8
- LAMC3 1
- LARGE1 4
- LIPT1 1
- LIPT2 4
- LMAN2L 1
- LMNB1 2
- LSS 5
- LYST 3
- MANBA 4
- MARK2 3
- MAST1 4
- MED17 5
- MTR 4
- MT-TK 1
- NCDN 1
- NDP 4
- NDUFA2 5
- NDUFAF3 4
- NDUFAF4 3
- NDUFS1 4
- NDUFS2 4
- NDUFS6 4
- NDUFS7 4
- NECAP1 9
- NOTCH3 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
- PNPLA8 1
- POLG2 3
- POMT2 4
- PPOX 1
- PPP2R2B 1
- PPP2R5C 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
- RNU2-2P 2
- RNU4ATAC 4
- RNU5B-1 2
- RPIA 4
- RPS6KC1 1
- RRM2B 3
- RUSC2 4
- RYR2 4
- RYR3 8
- SAMD12 2
- SCO1 3
- SCO2 4
- SDHA 4
- SIX3 4
- SLC31A1 1
- SLC35A1 4
- SLC35A3 4
- SLC45A1 4
- SNF8 1
- SNX27 5
- SPOUT1 1
- SPR 5
- SPTBN4 2
- STARD7 1
- SUCLG1 3
- SYNCRIP 2
- TANC2 1
- TARS2 1
- TBC1D20 3
- TCP1 1
- TEFM 2
- TELO2 4
- TET3 3
- TMEM106B 2
- TMEM167A 1
- TMEM70 3
- TNK2 3
- TRAF7 4
- TRAPPC6B 4
- TRIP13 3
- TRPM7 1
- TRRAP 5
- TSEN15 4
- TSEN2 3
- TSEN34 3
- TSFM 3
- TUBA8 3
- TUBB 3
- TXNRD1 3
- UBR5 1
- UFC1 4
- UGGT1 2
- UNC13A 1
- USP7 4
- VLDLR 4
- VPS50 2
- WDR47 1
- 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
- FLVCR1 1
- 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
-
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
ISCA-37404-Loss 2 -
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 -
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
ISCA-37433-Loss 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 -
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 -
15q11.2 recurrent region (BP1-BP2) (includes NIPA1) Loss
ISCA-37448-Loss 1
Early onset or syndromic epilepsy
Gene: PRICKLE2 Red List (low evidence)EnsemblGeneIds (GRCh38): ENSG00000163637
EnsemblGeneIds (GRCh37): ENSG00000163637
OMIM: 608501, Gene2Phenotype
PRICKLE2 is in 2 panels
6 reviews
Rebecca Foulger (Genomics England curator)
I don't know
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Last Modified: 6 Aug 2019, 8:38 p.m.
Panel version: 1.189
Tracy Lester (Genetics laboratory, Oxford UK)
I don't know
PRICKLE2 possibly assoc with myoclonic epilepsy - Tao et al, 2011 and Sandford et al, 2016 - sister and brother with severe prog myoclonic epilepsy - 2 missense variants - in the later paper these sibs were found to have compound het POLG variants which explained the phenotype.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
Unknown
Phenotypes
Seizures
Publications
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188
Amy McTague (UCL Institute of Child Health)
Red List (low evidence)
Panel version: Imported from Epileptic encephalopathy panel version 0
Natalie Trump (NHS - Great Ormond Street Hospital)
Red List (low evidence)
Panel version: Imported from Epileptic encephalopathy panel version 0
Manju Kurian (UCL-Institute of Child Health)
Red List (low evidence)
Panel version: Imported from Epileptic encephalopathy panel version 0
Richard Scott (North Thames GMC/UCL)
Red List (low evidence)
Panel version: Imported from Epileptic encephalopathy panel version 0
Details
- Sources
-
- Wessex and West Midlands GLH
- NHS GMS
- NIHRBR-RD Consortium SPEED_v3.0_20170404
- Expert
- Expert Review Red
- OMIM
- 608501
- Clinvar variants
- Variants in PRICKLE2
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to PRICKLE2.
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to PRICKLE2.
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)Sarah Leigh: Comment when marking as ready:
Added New Source
Sarah Leigh (Genomics England Curator)NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to PRICKLE2. Panel: Genetic Epilepsy Syndromes
Added New Source
Sarah Leigh (Genomics England Curator)PRICKLE2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert
Created
Sarah Leigh (Genomics England Curator)PRICKLE2 was created by Sarah Leigh