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: GCDH Green List (high evidence)
GCDH (glutaryl-CoA dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000105607
EnsemblGeneIds (GRCh37): ENSG00000105607
OMIM: 608801, Gene2Phenotype
GCDH is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000105607
EnsemblGeneIds (GRCh37): ENSG00000105607
OMIM: 608801, Gene2Phenotype
GCDH is in 12 panels
1 review
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Green List (high 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 Green
- London North GLH
- Phenotypes
-
- Dystonia
- Glutaricaciduria, type I, 231670
- OMIM
- 608801
- Clinvar variants
- Variants in GCDH
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Diagnostic testing for Glutaric acidaemia I
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
9 Dec 2019, Gel status: 3
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: GCDH were changed from Dystonia to Dystonia; Glutaricaciduria, type I, 231670
6 Dec 2019, Gel status: 3
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Source PanelApp was added to GCDH. Mode of inheritance for gene GCDH was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dystonia for gene: GCDH Publications for gene GCDH were changed from to 8900227; 11174631; 8900228; 10699052; 7795610
6 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: GCDH was added gene: GCDH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: GCDH was set to