Genes in panel
- ABAT 2
- ACBD6 4
- ACER3 4
- ACOX1 3
- ACTB 3
- ADAR 4
- ADCY5 3
- ALDH18A1 4
- ANO3 1
- AP1S2 3
- APTX 1
- ARFGEF3 4
- ARSA 3
- ARX 4
- ASL 4
- ATM 1
- ATP13A2 1
- ATP1A2 1
- ATP1A3 1
- ATP5G3 3
- ATP7B 1
- BCAP31 1
- BCS1L 2
- C19orf12 1
- CACNA1A 1
- CACNA1G 1
- CAMK4 3
- CLN3 1
- CLN5 1
- CLPB 3
- COASY 1
- COX10 1
- COX15 1
- COX20 3
- CSTB 4
- DCAF17 1
- DCC 3
- DDC 2
- DHDDS 3
- DLAT 1
- DLD 1
- DNAJC12 1
- DNAJC6 3
- ECHS1 1
- EIF2AK2 3
- FA2H 1
- FBXO7 1
- FITM2 2
- FOLR1 1
- FOXG1 4
- FOXRED1 3
- FTL 1
- FUCA1 3
- FXN 3
- GBA 2
- GCDH 1
- GCH1 1
- GJC2 1
- GLB1 1
- GLRA1 1
- GLRB 3
- GM2A 1
- GNAL 3
- GNAO1 1
- GNB1 3
- GRIN1 2
- GTPBP2 1
- HCFC1 1
- HECW2 2
- HEXA 3
- HIBCH 1
- HNRNPH1 3
- HPCA 1
- HPRT1 7
- HSD17B10 3
- HSPD1 3
- HTRA2 1
- IFIH1 1
- IMPDH2 3
- IRF2BPL 2
- KCNA1 1
- KCNMA1 1
- KCNQ2 4
- KCTD17 1
- KIF1C 1
- KMT2B 1
- L2HGDH 6
- LRPPRC 1
- MARS2 1
- MECR 1
- MED27 2
- MRE11 1
- MTFMT 1
- NDUFA1 1
- NDUFA10 1
- NDUFA12 3
- NDUFA2 4
- NDUFAF5 1
- NDUFAF6 1
- NDUFS1 1
- NDUFS4 1
- NDUFS7 1
- NDUFS8 1
- NDUFV1 1
- NGLY1 2
- NKX2-1 2
- NKX6-2 1
- NPC1 1
- NPC2 3
- NUP54 2
- NUS1 2
- OPA3 1
- PANK2 1
- PCCA 1
- PCCB 1
- PDE10A 1
- PDE1B 1
- PDE2A 2
- PDGFB 3
- PDHA1 1
- PDHX 3
- PET100 1
- PINK1 1
- PLA2G6 1
- PNKD 1
- PNKP 1
- PNPT1 4
- POLR3A 1
- PRKN 1
- PRKRA 1
- PRRT2 1
- PTS 1
- QDPR 1
- RAB39B 1
- RNASEH2B 3
- RNASEH2C 3
- RNASET2 1
- RNU7-1 2
- SAMHD1 3
- SCN1A 3
- SCN8A 1
- SERAC1 1
- SETX 2
- SGCE 1
- SHQ1 3
- SLC16A2 3
- SLC18A2 3
- SLC19A3 1
- SLC20A2 1
- SLC2A1 1
- SLC30A10 1
- SLC30A9 1
- SLC39A14 1
- SLC6A3 1
- SLC6A8 1
- SNORD118 3
- SPATA5L1 4
- SPR 3
- SQSTM1 2
- SUCLA2 1
- SUOX 4
- SURF1 1
- SYNJ1 1
- SYT1 2
- TAF1 3
- TARS2 2
- TBC1D24 2
- TH 1
- THAP1 1
- TIMM8A 4
- TMEM151A 2
- TNR 3
- TOR1A 3
- TPK1 4
- TREX1 3
- TSPOAP1 3
- TUBB4A 1
- UBTF 3
- VAC14 1
- VAMP1 2
- VAMP2 3
- VPS13A 1
- VPS13D 1
- VPS16 3
- VPS41 3
- VPS4A 2
- WDR45 1
- WDR73 1
- YIF1B 2
- YY1 1
- ZSWIM6 1
- AAAS 1
- AASS 1
- ABCB7 1
- ACSF3 1
- AFG3L2 7
- ANO10 1
- ATCAY 1
- AUH 4
- CA8 1
- CIZ1 3
- CLN8 1
- COL6A3 5
- CTSD 1
- CWF19L1 1
- CYP27A1 2
- DNAJC5 1
- ELOVL4 1
- FGF14 1
- GRID2 1
- GRM1 1
- HCN2 1
- HTT 2
- ITPR1 1
- KCNC3 1
- KCND3 1
- KIF1A 2
- MAL 2
- PCDH12 2
- PDYN 1
- PLP1 2
- PRKCG 1
- PTPN1 1
- RNASEH2A 4
- SACS 1
- SIL1 1
- SLC1A3 1
- SLC6A5 1
- SNX14 1
- SPG7 2
- STUB1 2
- TGM6 1
- TMEM240 1
- TPP1 1
- TTBK2 1
- WFS1 1
- WWOX 1
- AARS2 1
- ABCA1 1
- ABCB11 1
- ABCB4 1
- ABCD1 1
- ABCD4 1
- ABCG5 1
- ABCG8 1
- ABHD12 1
- ABHD5 1
- ACAD8 1
- ACAD9 1
- ACADM 1
- ACADS 1
- ACADSB 1
- ACADVL 1
- ACAT1 1
- ACO2 1
- ACY1 1
- ADA 1
- ADGRG1 1
- ADSL 1
- AGA 1
- AGK 1
- AGL 1
- AGPS 1
- AGXT 1
- AHI1 1
- AIFM1 2
- AKR1D1 1
- ALAD 1
- ALAS2 1
- ALDH3A2 1
- ALDH4A1 1
- ALDH5A1 1
- ALDH6A1 1
- ALDH7A1 1
- ALDOA 1
- ALDOB 1
- ALG1 1
- ALG11 1
- ALG12 1
- ALG13 1
- ALG3 1
- ALG6 1
- ALG8 1
- ALG9 1
- ALMS1 1
- ALPL 1
- AMACR 1
- AMN 1
- AMPD2 1
- AMT 1
- ANKS6 1
- APOA1 1
- APOA5 1
- APOB 1
- APOC2 1
- APOE 1
- APOPT1 2
- APRT 1
- ARG1 1
- ARL13B 1
- ARL6 1
- ARSB 1
- ARSE 2
- ASAH1 1
- ASPA 1
- ASS1 1
- ATAD3A 1
- ATIC 1
- ATN1 2
- ATP6AP1 1
- ATP6V0A2 1
- ATP7A 1
- ATP8A2 1
- ATP8B1 1
- ATPAF2 1
- ATXN1 3
- ATXN10 2
- ATXN7 3
- B3GALNT2 1
- B3GALT6 1
- B3GAT3 1
- B3GLCT 1
- B4GALT1 1
- B4GALT7 1
- B4GAT1 1
- B9D2 1
- BAAT 1
- BBS1 1
- BBS10 1
- BBS12 1
- BBS2 1
- BBS4 1
- BBS5 1
- BBS7 1
- BBS9 1
- BCKDHA 1
- BCKDHB 1
- BCKDK 1
- BDNF 1
- BOLA3 1
- BTD 1
- C12orf65 2
- C1QBP 1
- C21orf2 2
- C2CD3 1
- C5orf42 2
- C9orf72 5
- CA5A 1
- CACNB4 5
- CAMTA1 1
- CASK 1
- CAT 1
- CBS 1
- CC2D2A 1
- CCDC115 2
- CENPF 1
- CEP104 1
- CEP120 1
- CEP164 1
- CEP290 1
- CEP41 1
- CEP83 1
- CFAP43 1
- CHCHD10 1
- CHKB 1
- CHMP1A 1
- CHMP2B 2
- CHST14 1
- CHST3 1
- CHST6 1
- CHSY1 1
- CISD2 1
- CLCN2 1
- CLDN16 1
- CLDN19 1
- CLN6 1
- CLPP 1
- CNNM2 1
- COA3 1
- COA6 1
- COG1 1
- COG4 1
- COG5 1
- COG6 1
- COG7 1
- COG8 1
- COQ2 1
- COQ4 1
- COQ6 1
- COQ8A 1
- COQ8B 1
- COQ9 1
- COX14 1
- COX6A1 1
- COX6B1 1
- COX7B 1
- CP 2
- CPOX 2
- CPS1 1
- CPT1A 1
- CPT2 1
- CRB2 1
- CSPP1 1
- CTH 1
- CTNS 1
- CTSA 1
- CTSC 1
- CTSK 1
- CUBN 1
- CYC1 1
- CYCS 1
- CYP2U1 1
- CYP7B1 1
- D2HGDH 1
- DAG1 1
- DARS 2
- DARS2 1
- DBH 1
- DBT 1
- DCAF10 1
- DCDC2 1
- DCTN1 1
- DCXR 1
- DDHD2 1
- DDX59 1
- DGUOK 1
- DHCR24 1
- DHCR7 1
- DHFR 1
- DHODH 1
- DHTKD1 1
- DKC1 1
- DMPK 3
- DMXL2 1
- DNA2 1
- DNAH1 1
- DNAJC19 1
- DNM1L 1
- DNMT1 1
- DOLK 1
- DPAGT1 1
- DPM1 1
- DPM2 1
- DPM3 1
- DPYD 1
- DPYS 1
- DRD2 1
- DRD5 1
- DYM 1
- DYNC2H1 1
- DYNC2LI1 1
- EARS2 2
- EBP 1
- EIF2B1 1
- EIF2B2 1
- EIF2B3 1
- EIF2B4 1
- EIF2B5 1
- ELAC2 1
- ENO3 1
- EPG5 1
- EPM2A 1
- ERCC6 1
- ETFA 1
- ETFB 1
- ETFDH 1
- ETHE1 1
- EVC 1
- EVC2 1
- EXOSC3 1
- EXT1 1
- EXT2 1
- FAH 1
- FAR1 1
- FARS2 1
- FASTKD2 2
- FBP1 1
- FBXL4 1
- FDXR 1
- FECH 2
- FGFR2 1
- FH 1
- FKRP 1
- FKTN 1
- FLAD1 1
- FLVCR1 1
- FMO3 1
- FOXP2 1
- FTCD 1
- FUT8 1
- G6PC 2
- G6PC3 1
- GAA 1
- GABRG2 1
- GALC 1
- GALE 1
- GALK1 1
- GALNS 1
- GALNT3 1
- GALT 1
- GAMT 2
- GARS 2
- GATM 1
- GBA2 1
- GBE1 1
- GCLC 1
- GDAP1 1
- GFAP 2
- GFER 1
- GFM1 1
- GFPT1 1
- GIF 2
- GK 1
- GLA 1
- GLDC 1
- GLI3 1
- GLIS2 1
- GLRX5 1
- GLUD1 1
- GLUL 1
- GLYCTK 1
- GMPPB 1
- GNE 1
- GNMT 1
- GNPAT 1
- GNPTAB 1
- GNPTG 1
- GNS 1
- GOSR2 1
- GPAA1 1
- GPD1 1
- GPHN 1
- GRHPR 1
- GSS 1
- GTPBP3 1
- GUSB 1
- GYG1 1
- GYS1 1
- GYS2 1
- HAAO 1
- HADH 1
- HADHA 1
- HADHB 1
- HAMP 1
- HCCS 1
- HEXB 1
- HFE 1
- HFE2 2
- HGD 1
- HGSNAT 1
- HLCS 1
- HMBS 2
- HMGCL 1
- HMGCS2 1
- HNF1B 1
- HOGA1 1
- HPD 1
- HPS1 1
- HSD17B4 1
- HSD3B7 1
- HYAL1 1
- HYLS1 1
- IARS2 1
- IBA57 1
- ICK 3
- IDH2 1
- IDS 1
- IDUA 1
- IER3IP1 1
- IFT122 1
- IFT140 1
- IFT172 1
- IFT27 1
- IFT43 1
- IFT52 1
- IFT80 1
- INPP5E 1
- INVS 1
- IQCB1 1
- ISCU 1
- ISG15 1
- ISPD 2
- ITPA 1
- IVD 1
- KARS 2
- KCNJ10 1
- KCNK18 2
- KCNQ3 1
- KIAA0586 1
- KIF7 1
- KYNU 1
- LAMP2 1
- LARGE1 1
- LARS2 1
- LBR 1
- LCAT 1
- LCT 1
- LDHA 1
- LDLR 1
- LDLRAP1 1
- LIAS 1
- LIPA 1
- LIPC 1
- LIPT1 1
- LMBRD1 1
- LONP1 1
- LPIN1 1
- LPL 1
- LZTFL1 1
- MAGT1 1
- MAN1B1 1
- MAN2B1 1
- MANBA 1
- MAOA 1
- MAPKBP1 1
- MAT1A 2
- MCCC1 1
- MCCC2 1
- MCEE 1
- MCOLN1 2
- MDH2 1
- MFF 1
- MFN2 1
- MFSD8 1
- MGAT2 1
- MGME1 1
- MKKS 1
- MKS1 1
- MLYCD 1
- MMAA 1
- MMAB 1
- MMACHC 1
- MMADHC 2
- MOCS1 1
- MOCS2 1
- MOGS 1
- MPDU1 1
- MPI 1
- MPV17 2
- MR1 1
- MRPL3 1
- MRPS22 1
- MRPS34 1
- MSMO1 1
- MTHFR 1
- MTO1 1
- MTPAP 1
- MTR 1
- MTRR 1
- MTTP 1
- MUT 2
- MVK 1
- NAGA 1
- NAGLU 1
- NAGS 1
- NARS2 1
- NDUFA11 1
- NDUFA4 1
- NDUFA9 1
- NDUFAF1 1
- NDUFAF2 1
- NDUFAF3 1
- NDUFAF4 1
- NDUFB11 1
- NDUFB3 1
- NDUFB9 1
- NDUFS2 1
- NDUFS3 2
- NDUFS6 1
- NDUFV2 1
- NEK1 1
- NEK8 1
- NEU1 1
- NFU1 1
- NHLRC1 1
- NOP56 2
- NPHP1 1
- NPHP3 1
- NPHP4 1
- NSDHL 1
- NT5C3A 1
- NUBPL 1
- NUP62 1
- OAT 1
- OCLN 4
- OCRL 1
- OFD1 1
- OPA1 1
- OPHN1 1
- OPLAH 1
- OTC 1
- OXCT1 1
- PAH 1
- PARK7 1
- PARS2 1
- PAX6 1
- PC 1
- PCBD1 1
- PCK1 1
- PCSK9 1
- PDGFRB 1
- PDHB 1
- PDP1 1
- PDPR 1
- PDSS1 1
- PDSS2 1
- PDX1 1
- PEPD 1
- 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 1
- PEX7 1
- PFKM 1
- PGAM2 1
- PGAP2 1
- PGAP3 1
- PGK1 1
- PGM1 1
- PGM3 1
- PHGDH 1
- PHKA1 1
- PHKA2 1
- PHKB 1
- PHKG2 1
- PHYH 1
- PIGA 1
- PIGL 1
- PIGM 1
- PIGN 1
- PIGO 1
- PIGT 1
- PIGV 1
- PITX3 1
- PKD1 1
- PKD2 1
- PKHD1 1
- PMM2 1
- PMPCA 1
- PNP 1
- PNPLA6 1
- PNPO 1
- POLG 1
- POLG2 1
- POMGNT1 1
- POMGNT2 1
- POMT1 1
- POMT2 1
- POR 1
- PPA2 1
- PPOX 2
- PPP2R2B 2
- PPT1 1
- PRKAG2 1
- PRNP 4
- PRODH 1
- PRPS1 1
- PSAP 1
- PSAT1 1
- PSEN1 1
- PSPH 1
- PTEN 1
- PTF1A 1
- PUS1 1
- PYCR1 1
- PYGL 1
- PYGM 1
- QARS 2
- RANBP2 1
- RARS2 1
- RBCK1 1
- RBP4 1
- RELN 1
- RFT1 1
- RMND1 1
- RNASEH1 1
- RNF170 1
- RNF216 1
- ROBO3 1
- RPGRIP1L 1
- RPIA 1
- RPL10 1
- RRM2B 1
- RYR1 1
- SAR1B 1
- SARS2 1
- SBDS 1
- SC5D 1
- SCN9A 1
- SCO1 1
- SCO2 1
- SCP2 2
- SDCCAG8 1
- SDHA 1
- SDHAF1 2
- SDHAF2 1
- SDHB 1
- SDHC 1
- SDHD 1
- SEC23B 1
- SEPSECS 1
- SGSH 1
- SI 1
- SKIV2L 2
- SLC12A3 2
- SLC16A1 1
- SLC17A5 1
- SLC19A2 1
- SLC22A5 1
- SLC25A1 1
- SLC25A12 1
- SLC25A13 1
- SLC25A15 1
- SLC25A19 1
- SLC25A20 1
- SLC25A22 1
- SLC25A26 1
- SLC25A3 1
- SLC25A38 1
- SLC25A4 1
- SLC25A46 1
- SLC2A2 1
- SLC35A1 1
- SLC35A2 1
- SLC35C1 1
- SLC35D1 1
- SLC37A4 1
- SLC39A4 1
- SLC39A8 1
- SLC3A1 1
- SLC40A1 1
- SLC46A1 2
- SLC52A2 1
- SLC52A3 1
- SLC5A1 1
- SLC6A19 1
- SLC6A20 1
- SLC7A7 1
- SLC7A9 1
- SLC9A6 1
- SMPD1 1
- SMPD4 1
- SPTBN2 1
- SPTLC1 1
- SPTLC2 1
- SRD5A3 1
- SSR4 1
- ST3GAL3 1
- ST3GAL5 1
- STS 1
- STT3A 1
- SUCLG1 1
- SUFU 1
- SUMF1 1
- SYNE1 1
- TACO1 1
- TALDO1 1
- TANGO2 1
- TAT 1
- TAZ 2
- TCN2 1
- TCTEX1D2 2
- TCTN1 1
- TCTN2 1
- TCTN3 1
- TERT 1
- TFR2 1
- TIMM50 1
- TINF2 1
- TK2 1
- TMEM107 1
- TMEM126B 1
- TMEM138 1
- TMEM165 1
- TMEM216 1
- TMEM231 1
- TMEM237 1
- TMEM5 2
- TMEM67 1
- TMEM70 1
- TOE1 1
- TRAF3IP1 1
- TREM2 1
- TRIM37 1
- TRMU 1
- TRNT1 1
- TRPM6 1
- TSEN2 1
- TSEN34 1
- TSEN54 1
- TSFM 1
- TTC19 1
- TTC21B 1
- TTC37 2
- TTC8 1
- TTPA 1
- TUBA1A 1
- TUBA8 1
- TUBB2B 1
- TUBB3 1
- TUFM 1
- TUSC3 1
- TWNK 1
- TXNDC15 1
- TYMP 1
- UGT1A1 1
- UMOD 1
- UMPS 1
- UQCRB 1
- UQCRQ 1
- UROC1 1
- UROD 2
- UROS 1
- VARS2 1
- VIPAS39 1
- VKORC1 1
- VLDLR 1
- VPS13B 1
- VPS33B 1
- VPS37A 1
- VPS53 1
- VRK1 1
- WDPCP 1
- WDR19 1
- WDR34 2
- WDR35 1
- WDR81 1
- XDH 1
- XK 2
- XPNPEP3 1
- XPR1 1
- XYLT1 2
- XYLT2 1
- YARS2 1
- ZNF423 1
- MT-ATP6 2
- MT-ATP8 2
- MT-CO1 2
- MT-CO2 2
- MT-CO3 2
- MT-CYB 2
- MT-ND1 2
- MT-ND2 2
- MT-ND3 2
- MT-ND4 2
- MT-ND4L 2
- MT-ND5 2
- MT-ND6 2
- MT-RNR1 2
- MT-RNR2 2
- MT-TA 2
- MT-TC 2
- MT-TD 2
- MT-TE 2
- MT-TF 2
- MT-TG 2
- MT-TH 2
- MT-TI 2
- MT-TK 2
- MT-TL1 2
- MT-TL2 2
- MT-TM 2
- MT-TN 2
- MT-TP 2
- MT-TQ 2
- MT-TR 2
- MT-TS1 2
- MT-TS2 2
- MT-TT 3
- MT-TV 2
- MT-TW 2
- MT-TY 2
Regions in panel
Prev
Next
Childhood onset dystonia, chorea or related movement disorder
Gene: CEP41 Red List (low evidence)
CEP41 (centrosomal protein 41)
EnsemblGeneIds (GRCh38): ENSG00000106477
EnsemblGeneIds (GRCh37): ENSG00000106477
OMIM: 610523, Gene2Phenotype
CEP41 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000106477
EnsemblGeneIds (GRCh37): ENSG00000106477
OMIM: 610523, Gene2Phenotype
CEP41 is in 19 panels
1 review
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Red List (low evidence)
Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- PanelApp
- Expert Review Red
- London North GLH
- Phenotypes
-
- Joubert syndrome 15
- OMIM
- 610523
- Clinvar variants
- Variants in CEP41
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Ocular coloboma
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Neurological ciliopathies
- Retinal disorders
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
History Filter Activity
6 Dec 2019, Gel status: 1
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Source PanelApp was added to CEP41. Mode of inheritance for gene CEP41 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 15 for gene: CEP41 Publications for gene CEP41 were changed from to 22246503
6 Dec 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: CEP41 was added gene: CEP41 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CEP41 was set to