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
- CACNB4 5
- 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
- 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 2
- 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
- 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
- HTT 2
- ITPR1 1
- KCNC3 1
- KCND3 1
- KIF1A 2
- MAL 2
- PCDH12 2
- PDE1B 1
- PDYN 1
- PLP1 2
- PRKCG 1
- RNASEH2A 4
- SACS 1
- SIL1 1
- SLC1A3 1
- SLC6A5 1
- SNX14 1
- SPG7 2
- STUB1 2
- TGM6 1
- TMEM240 1
- TNR 2
- 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
- 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 1
- 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
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Childhood onset dystonia, chorea or related movement disorder
Gene: TMEM237 Red List (low evidence)
TMEM237 (transmembrane protein 237)
EnsemblGeneIds (GRCh38): ENSG00000155755
EnsemblGeneIds (GRCh37): ENSG00000155755
OMIM: 614423, Gene2Phenotype
TMEM237 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000155755
EnsemblGeneIds (GRCh37): ENSG00000155755
OMIM: 614423, Gene2Phenotype
TMEM237 is in 19 panels
1 review
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Red List (low evidence)
Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 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, 4:25 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 14
- Joubert syndrome
- Joubert syndrome with oculorenal defect
- OMIM
- 614423
- Clinvar variants
- Variants in TMEM237
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Ocular coloboma
- Intellectual disability
- Retinal disorders
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
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 TMEM237. Mode of inheritance for gene TMEM237 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 14; Joubert syndrome; Joubert syndrome with oculorenal defect for gene: TMEM237 Publications for gene TMEM237 were changed from to 20301500; 22152675
6 Dec 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: TMEM237 was added gene: TMEM237 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TMEM237 was set to