— The onset for some of the known clinical features related to this disease may vary, including
adult onset .
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency Is also known as autosomal recessive spinocerebellar ataxia type 13, scar13, autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency.
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.
Panel Name, Specifity and genes Tested/covered |
Ataxia, Supplemental Recessive Evaluation.
By Athena Diagnostics Inc (United States).
SACS, TTPA, APTX, COQ8A, SYNE1, TDP1, SYT14, SIL1, FLVCR1, ANO10, MTPAP, AFG3L2, SETX, GRM1, MRE11, ATM, POLG
Specificity
6 %
Genes
100 %
|
Ataxia, Complete Recessive Evaluation.
By Athena Diagnostics Inc (United States).
SACS, TTPA, APTX, COQ8A, SYNE1, TDP1, SYT14, SIL1, FLVCR1, ANO10, MTPAP, AFG3L2, FXN, SETX, GRM1, MRE11, ATM, POLG
Specificity
6 %
Genes
100 %
|
Ataxia, Comprehensive Evaluation.
By Athena Diagnostics Inc (United States).
SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14 , (...)
View the complete list with 22 more genes
SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14, SIL1, FLVCR1, ANO10, MTPAP, ATN1, AFG3L2, EEF2, FGF14, FXN, SETX, GRM1, ITPR1, KCNA1, KCNC3, KCND3, ATXN3, MRE11, ATM, PDYN, POLG, PPP2R2B, PRKCG
Specificity
3 %
Genes
100 %
|
Ataxia Exome Panel.
By Genetic Services Laboratory University of Chicago (United States).
BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)
View the complete list with 457 more genes
BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1, SOX10, BTD, SPG11, ATL1, SPAST, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, CDKL5, STUB1, STXBP1, SUCLG1, SUOX, SURF1, TBCE, TWNK, TCF4, TCN2, TH, ACO2, TINF2, NKX2-1, TRPC3, TSFM, CEP41, TTPA, TTR, UBE3A, UCHL1, UQCRB, VAMP1, VARS, VLDLR, VRK1, WFS1, WWOX, XPA, XRCC4, YME1L1, ZIC1, SAMD9L, ATP8A2, ERLIN2, FBXL4, AAAS, PRX, CA8, CACNA1A, CACNA1G, PRDM8, CACNB4, PCDH19, SCYL1, ELOVL4, TMEM237, NPC2, CAPN1, PUM1, CASK, SNX14, CAV1, TSEN34, CHCHD10, LRPPRC, BSCL2, ABHD12, PANK2, NDUFAF5, APTX, SLC52A3, DNAJC5, TGM6, SLC19A3, PNPLA6, KIF1B, SCARB2, COQ8A, DGAT2, ERLIN1, PRICKLE1, NIPA1, MLC1, SYNE1, SLC39A4, RRM2B, TRNT1, TPK1, GJC2, PDSS1, TDP2, EXOSC3, FKRP, ADA2, NAXE, RNASEH1, SPART, CPT1C, COG4, RTN4IP1, PMPCA, ATPAF2, CAMTA1, NDUFAF1, TDP1, GBA2, NALCN, EBF3, POMGNT1, TTBK2, MECR, COQ4, DDHD1, POMT2, TECPR2, KIAA0586, CCDC88C, POLR1C, CLCN2, COQ6, NUBPL, CHAMP1, PRICKLE2, NDUFA11, SPG21, SUMF1, ZIC4, MBD5, APOPT1, L2HGDH, CYP2U1, TPP1, CLN5, ZFYVE26, TUBA1A, CLN6, TUBB4A, TUBB, CLN8, CLPP, AARS2, HACE1, NDUFAF4, FARS2, FA2H, ELOVL5, RARS2, INPP5E, AHI1, NHLRC1, RNASET2, RNF216, BRAT1, COL18A1, KCTD7, AP5Z1, COX10, COX15, COX6B1, GMPPB, CP, PEX26, PDSS2, SLC13A5, SYT14, ALG6, UBA5, ETHE1, NDUFA12, B9D1, BEAN1, PTRH2, TACO1, WDR62, TCTN3, SIL1, FLVCR1, CSTB, CEP104, CTBP1, OTUD4, CTDP1, TMEM216, MARS2, LRSAM1, TMEM240, SLC25A46, MMADHC, COQ2, CTSD, COQ9, CTSF, RNF170, ARL13B, C19orf12, ANO10, MTPAP, DARS2, CUL4B, CWF19L1, TTC21B, OFD1, TRAPPC11, TCTN2, REEP1, CPLANE1, POMGNT2, WDR73, PIGG, TTC19, CYP27A1, TMEM70, TCTN1, CTC1, CSPP1, PIEZO2, HEPACAM, UROC1, CYP7B1, WDR81, RNF168, CEP120, NAT8L, C12orf65, FOXRED1, TMEM138, COX20, DBT, DCX, IBA57, TSEN54, SLC6A19, NDUFAF2, TMEM107, COX14, VWA3B, TMEM67, TSEN2, MFSD8, NDUFAF6, DKC1, DLAT, DLD, ZNF592, RUBCN, CEP290, KIAA0556, IFT140, TELO2, ADSL, DDHD2, FASTKD2, RPGRIP1L, TBC1D24, CC2D2A, DMXL2, SH3TC2, ROGDI, KIDINS220, ARV1, UQCRQ, DYNC1H1, MTFMT, DNM2, DNMT1, DOCK3, NDUFAF3, PIK3R5, DPM1, POLR3A, ATP13A2, RFT1, SLC52A2, POLR3B, KIF7, PRRT2, SLC46A1, DNAJC19, SEPSECS, TYMP, AFG3L2, EEF2, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ENTPD1, EOMES, COA5, SDHAF1, EPM2A, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FKTN, FGF12, FGF14, ISPD, FMR1, FOLR1, FOXG1, FXN, FTL, PET100, ALDH5A1, GABRB3, GALC, B4GALNT1, GAMT, GAN, GBE1, GCH1, GFAP, GJA1, GJB1, GLB1, GCLC, ALS2, GOSR2, SETX, GPI, AMACR, ADGRG1, GRID2, GRM1, GRN, GSS, ABCB7, HARS, HCN1, HERC1, HEXA, HEXB, HIBCH, HLCS, HNRNPH2, HSD17B4, HSPD1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, ITM2B, ITPR1, KCNA1, KCNA2, KCNC1, KCNC3, KCND3, KCNJ10, KCNQ2, KIF1C, KIF5A, L1CAM, LAMA1, LARGE1, LIG4, LMNB1, LMNB2, LRP4, MAG, MAPK10, ARL6IP1, MECP2, MKS1, ARSA, MME, MPDU1, MPV17, MPZ, MRE11, ASL, MT-TP, MVK, ASS1, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NF2, ATCAY, NOL3, PNP, NPC1, NPHP1, ATM, ATP1A2, ATP1A3, NT5C2, NUP62, OPA1, OPA3, OPHN1, ATP2B3, OTC, PAX6, PC, ATP7B, PCNA, CHMP1A, PDE6D, PDHA1, PDHB, PDYN, PEX1, PEX10, PEX16, PEX7, KIF1A, PGK1, AUH, PGM3, PHYH, PLA2G6, PLP1, PMM2, PMP22, PNKD, PNKP, POLG, POMT1, CTSA, PPT1, PRF1, PRKCG, DNAJC3, PRNP, PRPS1, HTRA1, PSAP, SLC33A1, PSEN1, PTS, PEX2, ALDH18A1, BCKDHA, BCKDHB, RARS, RELN
Specificity
1 %
Genes
100 %
|
Spinocerebellar ataxia 13, AR (SCAR13, sequence analysis of GRM1 gene).
By CGC Genetics (Portugal).
GRM1
Specificity
100 %
Genes
100 %
|
Mental retardation - different panels.
By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).
RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)
View the complete list with 845 more genes
RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SKI, SLC12A6, SLC16A2, SLC17A5, SLC1A4, BRAF, SLC25A1, SLC25A15, SLC25A16, SLC2A1, SLC31A1, SLC35A1, SLC35A2, SLC35A3, SLC4A4, SLC6A1, SLC6A3, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, KDM5C, SMPD1, SMS, SNAP29, SIK1, SOS1, SOS2, SOX10, SOX2, SOX3, SOX5, SPG11, SPTAN1, SSR4, STIM1, PLK4, CDKL5, STXBP1, SUOX, SURF1, BUB1B, SYN1, SYNGAP1, SYP, TAF1, TAF2, TAT, TBCE, TBR1, TCF12, TCF20, TCF4, TGFBR1, TGFBR2, TGIF1, TH, THRB, ACO2, TIMM8A, NKX2-1, TSPAN7, ACOX1, MED12, TPI1, TREX1, TRIO, TRIP12, TSC1, TSC2, CEP41, TUBA8, TUBB2A, TUBG1, UBE2A, UBE3A, USP9X, KDM6A, VLDLR, VRK1, WNT1, WWOX, XPA, ZIC2, RNF113A, KAT6A, SCAPER, ZNF711, ZNF81, ACTB, ARL6, FTSJ1, HDAC8, KIF4A, MCOLN1, NSDHL, RLIM, UBE3B, USP27X, ZBTB20, ERLIN2, FBXL4, CTCF, CA2, CA5A, SLC12A5, CA8, CNTNAP2, CACNA1C, CACNA1G, CACNA2D2, HDAC4, FMN2, CCDC78, NSD1, CAD, RAB18, AUTS2, PCDH19, NLGN4X, NLGN3, SHANK3, SHANK2, SCYL1, ACTG1, ELOVL4, TMEM237, MRPS22, ARHGEF9, DEAF1, CAPN10, COG5, ZEB2, PIGT, PPP1R15B, CASK, SNX14, CASP2, MICU1, CBL, SHOC2, MBTPS2, GPHN, ANKH, CBS, PUS1, JAM3, SETBP1, ALG9, LRPPRC, GEMIN4, ADNP, CCNA2, BSCL2, KMT2B, ARFGEF2, PANK2, NDUFAF5, PLCB1, SAMHD1, APTX, MPLKIP, PCNT, SFXN4, TBC1D20, MGME1, DNAJC5, UPB1, TRIM32, NLRP3, RAB39B, FBXO31, TUBGCP4, BCAP31, ZNF423, UBR1, COQ8A, FIG4, HAX1, STAMBP, ZMYND11, SRCAP, CLP1, RAB3GAP1, EXOSC2, ACVR1, CDON, RAB3GAP2, COLEC11, CENPJ, WAC, BRWD3, GMNN, GJC2, CDH15, KAT6B, NDE1, PORCN, ACY1, CDK5, PDSS1, CDK6, AFF4, PGAP2, EXOSC3, CEP83, FKRP, ARID2, ARID1B, ARX, GPT2, SPATA5, TUBGCP6, PHF6, TMCO1, ELP2, PECR, ALG1, ATP6AP2, ASXL1, PRIMA1, SETD2, DEPDC5, ZDHHC9, ATP6V0A2, SPART, RNASEH2A, IER3IP1, CENPE, SLC39A6, COG4, COG6, COG7, COG8, IFT27, RTTN, PMPCA, CDK5RAP2, ASCC3, NAA10, BBS7, POGZ, KCNT1, MMAA, IFIH1, GBA2, ASPM, THOC2, NALCN, POMGNT1, CHD2, FRAS1, DOCK7, ALG12, CHKB, COQ4, CNKSR1, CNKSR2, POMT2, ISCA2, SLC25A22, TECPR2, KIAA0586, CCDC88C, AARS, SNX27, TTC8, CHD8, SLC35C1, B3GLCT, CLCN4, SPRED1, NUBPL, CHAMP1, SMOC1, UBR7, FRY, NDUFA11, UPF3B, MBD5, APOPT1, L2HGDH, ZC3H14, CYP2U1, CHD7, CLIC2, PHF8, TPP1, CLN3, CLN5, ZFYVE26, TUBA1A, CLN6, TUBB4A, CLN8, BCOR, HACE1, SERAC1, FARS2, TBC1D7, RNF125, GTF2H5, RMND1, ANKRD11, DYM, PDHX, ABHD5, INPP5E, ACAD9, AHI1, SATB2, RNASET2, BRAT1, VPS13B, RBM28, COL18A1, KCTD7, COL4A1, COL4A2, COL4A3BP, ADAR, COX10, COX15, GMPPA, GMPPB, MED13L, PEX26, PDSS2, ALG3, SLC13A5, ALG6, ALG2, ALG8, PNPT1, PIGO, ETHE1, ACBD6, CRADD, DOLK, KIF1BP, CREBBP, DHTKD1, PGAP3, MED23, MED17, NDUFA12, APC2, RNASEH2C, PTRH2, POC1A, WDR62, TCTN3, MMACHC, NECAP1, KANSL1, FAM126A, SIL1, EHMT1, FTO, SMC3, RABL6, MFF, MOGS, CEP104, LARP7, VPS37A, ZC4H2, CTDP1, TMEM216, WDR45B, PRMT9, CTNNB1, ADAT3, MMADHC, COQ2, AHDC1, ZCCHC8, CTSD, CTSF, DDX59, KATNAL2, RAB40AL, ARL13B, TANGO2, FRMD4A, ANO10, CCDC88A, DARS2, CUL4B, PRMT7, SETD5, TTC21B, OFD1, RNASEH2B, ADK, PGAP1, LAS1L, TRAPPC11, TCTN2, CPLANE1, SRD5A3, CEP63, MFSD2A, POMGNT2, WDR73, GON4L, TRMT1, PIGG, NSUN2, KRBOX4, PIGV, TCTN1, TMEM135, CSPP1, FAR1, TM4SF20, TTI2, POMK, NARS2, BBS10, HEPACAM, PTCHD1, HGSNAT, UNC80, WDR81, BBS12, DAG1, DARS, C12orf65, CKAP2L, HIKESHI, TMEM138, DBT, METTL23, PARP1, DCX, DDC, ESCO2, DDOST, ACSF3, DDX3X, WDPCP, BBIP1, CCDC28B, CCDC115, ADRA2B, D2HGDH, TMEM67, TRMT10A, MFSD8, DHCR24, B3GALNT2, DHCR7, DHFR, CYB5R3, DIAPH1, MED25, NIPBL, MAGT1, DKC1, CCDC22, WDR45, EMC1, DLD, WASHC5, FRMPD4, SETD1A, KDM6B, DLG3, CEP290, SZT2, ZBTB40, IQSEC2, KIAA0556, KDM1A, CEP135, ADSL, DDHD2, RPGRIP1L, TBC1D24, SHROOM4, CC2D2A, SOBP, DMD, DIP2B, CEP152, ZSWIM6, DMPK, EPG5, KLHL15, ASXL3, ZNF526, EARS2, RSPRY1, CCBE1, NEXMIF, ROGDI, C12orf57, TBL1XR1, DYNC1H1, DNM1, DNM1L, DNMT3A, DNMT3B, DCPS, DPAGT1, BBS9, DPH1, PACS1, DPM1, DPM2, DPM3, POLR3A, DPP6, DPYD, CRBN, ATP13A2, RFT1, CC2D1A, TUSC3, PYCR2, POLR3B, IFT172, KIF7, PRRT2, DNAJC19, STT3B, STRA6, CLPB, TMEM165, GATAD2B, TUBB2B, TRAPPC9, POC1B, EFTUD2, ALG13, HUWE1, DYRK1A, LINS1, SLC6A17, AGA, EEF1A2, EEF1B2, MEGF8, ALG11, AGPAT2, EIF2AK3, EIF2S3, EMX2, ENTPD1, EP300, AHCY, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, EZH2, ACSL4, FANCD2, FASN, AK1, FKTN, FGD1, FGFR1, FGFR2, FGFR3, FH, TMEM231, ISPD, FLNA, FMR1, AFF2, FOXG1, FOXP1, AKT3, MTOR, PET100, FUCA1, ALDH3A2, GABRA1, ALDH5A1, GABRB3, GAD1, GALE, B4GALNT1, GALT, GAMT, GATM, GCH1, GCSH, GDI1, GFAP, GK, GLDC, GLI2, GLI3, GNAO1, GNAS, GNPAT, GNS, GPC3, GABBR2, ADGRG1, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GRN, GSS, GTF2E2, GUSB, AMT, HIST3H3, HIST1H4B, HSD17B10, HCCS, HCFC1, HCN1, HERC2, HESX1, ANK3, HLCS, HMGB3, HNRNPK, HOXA1, HPD, HPRT1, HRAS, IDS, IDUA, IGF1, AP1S1, AP1S2, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, IKBKG, IL1RAPL1, ABCC9, IMPA1, INPP4A, ABCD1, STT3A, ITPA, KATNB1, KCNA2, KCNB1, KCNH1, KCNJ11, KCNJ6, KCNK9, KCNQ2, KCNQ3, KIF2A, KIF5C, KIF11, KPTN, KRAS, L1CAM, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, COG1, LIG4, LRP2, LZTFL1, LZTR1, MAB21L2, SMAD4, MAF, MAG, ABCD4, MAGEL2, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, ARHGEF6, MASP1, MAT1A, MCCC1, MCCC2, MCPH1, MECP2, MEF2C, MEIS2, MGAT2, MID1, MID2, MKKS, MKS1, KMT2D, MLYCD, MOCS1, MOCS2, MPDU1, MPDZ, MPI, ASAH1, MT-CO1, MT-CO2, MT-CO3, ASL, MT-ND5, MTR, MTRR, MT-TK, MT-TL1, MT-TS1, MT-TV, MMUT, ASNS, MVK, MYCN, ASPA, MYO5A, MYT1L, NAGA, NAGLU, NBN, NDP, NDST1, NDUFA1, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NF1, NFIX, NHS, PNP, NPHP1, NR2F1, NRAS, ATP1A2, NRXN1, ATP1A3, NT5C2, NTRK1, OCLN, OCRL, ATP2A2, OPHN1, ORC1, OTX2, ATP6V1B2, PAFAH1B1, PAK3, PAX6, PC, ATP7A, AIFM1, PDE4D, PDE6D, PDHA1, ATR, PEPD, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX6, ATRX, PEX7, KIF1A, PGK1, AUH, PGM1, PGM3, PHGDH, PIGA, PIGN, PIK3CA, PIK3R1, PIK3R2, PLP1, PMM2, PNKP, POMT1, B4GALT1, PPOX, B4GALT7, PPP2R1A, PPP2R5D, PPT1, PQBP1, PRKCG, PRKRA, PRODH, PRPS1, PRSS12, SLC33A1, PTCH1, PTDSS1, PTEN, PTPN11, BBS1, BBS2, BBS4, BBS5, PURA, NECTIN1, PEX5, PYCR1, ALDH18A1, QARS, RAB27A, RAD21, RAF1, RAI1, RALGDS, BCKDHA, RARB, BCKDHB, RASA2, KDM5A, RBBP8, RELN
Specificity
1 %
Genes
100 %
|
Neurogenetic Disorders - panels.
By MGZ Medical Genetics Center (Germany).
BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)
View the complete list with 572 more genes
BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC1A4, SLC22A5, SLC25A12, SLC25A15, SLC25A3, SLC25A4, SLC2A1, SLC6A3, SLC6A5, SLC6A8, KDM5C, SNAP25, SNCA, SIK1, SOX10, SPG11, ATL1, SPAST, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, STAT2, CDKL5, STUB1, STXBP1, SUCLA2, SUCLG1, SURF1, SYNGAP1, SYNJ1, TAF1, TALDO1, TARDBP, TAZ, TBK1, TWNK, TFG, TH, TIMM8A, NKX2-1, TK2, ACOX1, TREX1, TSFM, TTPA, TTR, TUBB2A, TUFM, UBE3A, UBQLN2, UQCRB, UQCRC2, USP8, VAMP1, VCP, WFS1, WWOX, XK, XRCC4, MCOLN1, VPS35, ATP8A2, ERLIN2, FBXO7, FBXL4, AAAS, GFM1, CACNA1A, CACNA1B, CACNA1C, CACNA1G, CACNA1H, PRDM8, ANO3, CACNB4, MRPS16, NPRL3, SLC25A20, CAD, PCDH19, SLC25A19, ELOVL4, MRPS7, ACTG2, MRPS22, NPC2, ARHGEF9, PINK1, VPS11, GTPBP3, SNX14, CASR, MICU1, GPHN, PUS1, CHCHD10, ARHGEF15, NBAS, LRPPRC, BSCL2, ABHD12, PANK2, NDUFAF5, NOP56, PLCB1, SAMHD1, GDAP1, APTX, CCT5, SLC52A3, MGME1, COX4I2, TGM6, SLC19A3, PNPLA6, NFU1, PARK7, NLRP3, EFHC1, SCARB2, MRPL44, MCEE, CIZ1, COQ8A, MFN2, DGAT2, ERLIN1, STAMBP, CLP1, PRICKLE1, EXOSC8, NIPA1, MLC1, SYNE1, LARS2, RAB3GAP2, NDUFA13, BICD2, ZFR, RRM2B, TRNT1, TPK1, GJC2, SARS2, ACY1, PDSS1, TXN2, EXOSC3, REEP2, ARX, SPATA5, PRIMA1, DEPDC5, RNASEH1, SPART, RNASEH2A, STX1B, CPT1C, LRRK2, PMPCA, ATPAF2, NDUFAF1, KCNT1, MMAA, GBA2, COQ8B, VPS13A, CHAT, PSAT1, TTBK2, CHD2, DOCK7, MTO1, MMAB, KIF21A, CHKB, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, LYST, COQ4, DDHD1, ISCA2, SLC25A22, TECPR2, CHD8, POLR1C, CLCN2, CLCN4, COQ6, NUBPL, TRIT1, PRICKLE2, NDUFA11, NDUFB11, SPG21, SUMF1, MBD5, APOPT1, L2HGDH, CYP2U1, SLC25A26, TPP1, CLN3, CLN5, ZFYVE26, CLN6, TUBB3, TUBB4A, CLN8, CLPP, THAP1, AARS2, NDUFAF4, SERAC1, FARS2, RMND1, FA2H, PDHX, ABHD5, RARS2, ACAD9, NHLRC1, VARS2, RNASET2, RNF216, AGK, KCTD7, COL4A1, COL4A2, COL6A3, AP5Z1, PTCD1, COLQ, COQ7, ADAR, COX10, COX15, COX6B1, GMPPB, COX8A, CP, PEX26, PDSS2, SLC13A5, TRMT5, ALG2, PNPT1, UBA5, CPT1A, ETHE1, CPT2, ADCY5, NDUFA12, RNASEH2C, YARS2, PTRH2, TACO1, CSF1R, BOLA3, MMACHC, CHMP2B, FAM126A, SIL1, FLAD1, CSTB, VPS37A, MARS2, SLC25A46, COQ2, COQ9, SLC30A10, TMEM126A, TANGO2, C19orf12, TRMU, ANO10, MTPAP, DARS2, RNASEH2B, CARS2, KCTD17, PGAP1, DCAF17, REEP1, RETREG1, TTC19, SDHAF2, CYP27A1, TMEM70, SLC25A38, NARS2, HEPACAM, CYP7B1, ZFYVE27, DOK7, C12orf65, FOXRED1, DBT, IBA57, TSEN54, SLC6A19, LYRM7, NDUFAF2, CCDC115, COX14, ALG14, SLC25A42, DGUOK, NDUFAF6, WDR45, DLAT, DLD, WASHC5, RUBCN, DDHD2, FASTKD2, TBC1D24, EPG5, DNA2, EARS2, TOR1AIP1, UQCRQ, MTFMT, IARS2, DNM2, DNMT1, ISCU, NDUFAF3, COASY, DPAGT1, PIK3R5, DPM2, POLR3A, ATP13A2, SLC52A2, PREPL, PNPO, PYCR2, POLR3B, PRRT2, DNAJC19, FDX2, PARS2, SEPSECS, CLPB, TARS2, PNPLA2, DYRK1A, WDR48, TOR1A, TYMP, AFG3L2, ECHS1, EEF1A2, AGL, EEF2, ARSI, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, AGRN, ENTPD1, SDHAF1, EPM2A, ETFA, ETFB, ETFDH, FGF14, FLRT1, FOLR1, FOXG1, FXN, ALAS2, FTL, FUCA1, ALDH3A2, GABRA1, GABRD, GABRG2, GAD1, GALC, B4GALNT1, GAMT, GAN, GARS, GBA, GBE1, GCDH, GCH1, GFAP, GFER, GFPT1, GJA1, GLDC, GLRA1, GLRB, GNAL, ALS2, GOSR2, SETX, AMACR, GRID2, GRIK2, GRIN2A, GRM1, GRN, GTPBP2, AMPD2, HADH, ABCB7, HARS2, HCFC1, HCN1, HEXA, HEXB, HIBCH, MR1, HNRNPDL, HNRNPU, HPCA, HSD17B4, HSPD1, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, APOE, ITPR1, IVD, APP, KARS, KCNA1, KCNA4, KCNC1, KCNC3, KCND3, KCNH5, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KIF1C, KIF5A, L1CAM, LAMA2, LAMP2, LARS, LGI1, ARG1, LMNB1, LMNB2, LRP4, MAG, MAPT, MARS, ARL6IP1, MECP2, MEF2C, ARSA, MOCS1, MOCS2, MPV17, MRE11, ASAH1, MTHFR, MTM1, ASL, MTTP, MUSK, MMUT, MYBPC1, ASPA, ASS1, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NOL3, NOTCH3, NPC1, ATM, ATP1A2, ATP1A3, NT5C2, OPA1, OPA3, ATP2B4, ATP5F1A, ATP5F1E, OTC, PRKN, PC, PCCA, PCCB, ATP7B, AIFM1, ALDH7A1, PDE8B, PDGFB, PDHA1, PDHB, PDYN, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, KIF1A, ACADM, AUH, PHGDH, PHYH, ACADS, PLA2G6, PLP1, PNKD, PNKP, PODXL, POLG, POLG2, ACADVL, PDP1, PPP2R2B, PPT1, PPT2, PRKCG, PRKRA, DNAJC3, PRNP, LONP1, PSAP, SLC33A1, PSEN1, PSEN2, PEX19, PEX2, PEX5, ALDH18A1, QARS, RANBP2, BCKDHA, RAPSN, BCKDHB, RARS, RELN
Specificity
1 %
Genes
100 %
|
Spinocerebellar ataxia autosomal recessive 13.
By Centogene AG - the Rare Disease Company (Germany).
GRM1
Specificity
100 %
Genes
100 %
|
You can check the following sources for additional information.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like
FRANK-TER HAAR SYNDROME; FTHS