Autosomal Recessive Spastic Paraplegia Type 58

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.

Genes related to Autosomal Recessive Spastic Paraplegia Type 58

KIF1C

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Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Spastic Paraplegia Type 58

Intellectual disability
Global developmental delay
Short stature
Microcephaly
Ataxia
Nystagmus
Spasticity
Peripheral neuropathy
Hyperreflexia
Dysarthria

And another 39 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Autosomal Recessive Spastic Paraplegia Type 58 Is also known as spax2, autosomal recessive spastic ataxia type 2, spg58.

Researches and researchers

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.

Autosomal Recessive Spastic Paraplegia Type 58 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Spastic Paraplegia Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...) View the complete list with 59 more genes Panel complete gene list RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1, NIPA1, RAB3GAP2, BICD2, GJC2, EXOSC3, REEP2, SPART, CPT1C, IFIH1, GBA2, DDHD1, TECPR2, SPG21, CYP2U1, KLC2, ZFYVE26, TUBB3, TUBB4A, HACE1, FARS2, FA2H, AP5Z1, ADAR, VPS37A, C19orf12, RNASEH2B, PGAP1, REEP1, CYP7B1, ZFYVE27, C12orf65, WDR45, WASHC5, DDHD2, KIDINS220, ATP13A2, ENTPD1, B4GALNT1, ALS2, HSPD1, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, KIF1C, KIF5A, L1CAM, MAG, MARS, MECP2, NT5C2, OPA3, KIF1A, PLA2G6, PLP1, PQBP1, SLC33A1, ALDH18A1 Specificity 2 % Genes 100 %
Hereditary Spastic Paraplegia Exome Panel. By Genetic Services Laboratory University of Chicago (United States). RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, VAMP1, ERLIN2, CAPN1, BSCL2, PNPLA6, ERLIN1, NIPA1, GJC2, EXOSC3, SPART, CPT1C , (...) View the complete list with 36 more genes Panel complete gene list RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, VAMP1, ERLIN2, CAPN1, BSCL2, PNPLA6, ERLIN1, NIPA1, GJC2, EXOSC3, SPART, CPT1C, GBA2, DDHD1, TECPR2, SPG21, ZFYVE26, FARS2, FA2H, AP5Z1, C19orf12, REEP1, CYP7B1, C12orf65, IBA57, WASHC5, DDHD2, KIDINS220, ATP13A2, ENTPD1, B4GALNT1, ALS2, HSPD1, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, KIF1C, KIF5A, L1CAM, MAG, ARL6IP1, NT5C2, KIF1A, PLP1, SLC33A1, ALDH18A1 Specificity 2 % 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 Panel complete gene list 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 %
Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RTN2, SPG11, ATL1, SPAST, SPG7, CAPN1, ERLIN1, NIPA1, BICD2, ZFR, REEP2, CPT1C, DDHD1, CYP2U1, ZFYVE26, FARS2, AP5Z1, REEP1, CYP7B1, ZFYVE27 , (...) View the complete list with 9 more genes Panel complete gene list RTN2, SPG11, ATL1, SPAST, SPG7, CAPN1, ERLIN1, NIPA1, BICD2, ZFR, REEP2, CPT1C, DDHD1, CYP2U1, ZFYVE26, FARS2, AP5Z1, REEP1, CYP7B1, ZFYVE27, WASHC5, HSPD1, KIF1C, KIF5A, NT5C2, ATP2B4, KIF1A, PLP1, SLC33A1 Specificity 4 % Genes 100 %
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SACS, SLC16A2, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, UCHL1, USP8, VCP, ERLIN2, CAPN1, BSCL2, CCT5, PNPLA6, NIPA1, RAB3GAP2, BICD2, GJC2 , (...) View the complete list with 50 more genes Panel complete gene list SACS, SLC16A2, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, UCHL1, USP8, VCP, ERLIN2, CAPN1, BSCL2, CCT5, PNPLA6, NIPA1, RAB3GAP2, BICD2, GJC2, EXOSC3, SPART, GBA2, LYST, DDHD1, TECPR2, SPG21, CYP2U1, ZFYVE26, TUBB4A, HACE1, FA2H, AP5Z1, VPS37A, C19orf12, PGAP1, REEP1, CYP7B1, UNC80, DARS, C12orf65, IBA57, WASHC5, DSTYK, DDHD2, KIDINS220, ATP13A2, WDR48, ARSI, ENTPD1, GAD1, B4GALNT1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, KIF1C, KIF5A, L1CAM, MAG, MARS, ARL6IP1, NT5C2, ATRX, KIF1A, PLP1, ALDH18A1 Specificity 2 % Genes 100 %
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RTN2, SACS, SLC16A2, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, UCHL1, USP8, VCP, ERLIN2, CAPN1, BSCL2, CCT5, PNPLA6, ERLIN1, NIPA1, RAB3GAP2 , (...) View the complete list with 60 more genes Panel complete gene list RTN2, SACS, SLC16A2, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, UCHL1, USP8, VCP, ERLIN2, CAPN1, BSCL2, CCT5, PNPLA6, ERLIN1, NIPA1, RAB3GAP2, BICD2, ZFR, GJC2, EXOSC3, REEP2, SPART, CPT1C, GBA2, LYST, DDHD1, TECPR2, SPG21, CYP2U1, ZFYVE26, TUBB4A, HACE1, FARS2, FA2H, AP5Z1, VPS37A, C19orf12, PGAP1, REEP1, CYP7B1, ZFYVE27, UNC80, DARS, C12orf65, IBA57, WASHC5, DSTYK, DDHD2, KIDINS220, ATP13A2, WDR48, ARSI, ENTPD1, GAD1, B4GALNT1, ALS2, AMPD2, HSPD1, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, KIF1C, KIF5A, L1CAM, MAG, MARS, ARL6IP1, NT5C2, ATP2B4, ATRX, KIF1A, PLP1, SLC33A1, ALDH18A1 Specificity 2 % Genes 100 %
Spastic Paraplegia 58 via KIF1C Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). KIF1C Specificity 100 % 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 Panel complete gene list 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 %

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Sources and references

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