- Analytes
- ZFR
ZFR
Name: |
zinc finger RNA binding protein
|
Symbol: |
ZFR
|
Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
SPG71
ZFR1
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
|
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Ataxia Spasticity - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 99.88 1 AARS1 99.99 1 ABCA2 100.00 1 ABCB7 99.58 1 ABCD1 99.98 1 ABHD12 99.98 1 ACO2 99.99 1 ADAR 99.84 1 ADGRG1 99.90 1 ADPRS 99.94 1 AFG3L2 99.97 1 AGTPBP1 99.68 1 AHI1 99.86 1 AIFM1 99.92 1 AIMP1 99.97 1 ALDH18A1 99.96 1 ALDH5A1 96.19 1 ALG6 93.37 1 ALS2 99.87 1 AMPD2 99.91 1 ANO10 99.93 1 AP4B1 96.92 1 AP4E1 99.94 1 AP4M1 99.98 1 AP4S1 87.89 1 AP5Z1 100.00 1 APOB 99.99 1 APTX 99.92 1 ARG1 99.95 1 ARL13B 99.53 1 ARL6IP1 99.51 1 ARSA 99.99 1 ARSI 100.00 1 ARX 95.36 1 ASPA 99.98 1 ATCAY 100.00 1 ATG5 99.81 1 ATL1 99.95 1 ATM 99.83 1 ATP13A2 99.96 1 ATP1A3 99.98 1 ATP2B3 99.98 1 ATP7B 100.00 1 ATP8A2 100.00 1 AUH 99.95 1 B4GALNT1 99.97 1 BCKDHA 99.97 1 BCKDHB 99.73 1 BCL11B 100.00 1 BCS1L 99.99 1 BICD2 99.99 1 BSCL2 99.99 1 BTD 100.00 1 C19ORF12 99.99 1 CA8 99.71 1 CACNA1A 98.16 1 CACNA1E 99.82 1 CACNA1G 99.95 1 CACNB4 99.20 1 CAMTA1 99.97 1 CAPN1 99.99 1 CC2D2A 99.95 1 CCDC88C 100.00 1 CCT5 99.99 1 CDK16 99.99 1 CEP290 98.10 1 CHP1 99.90 1 CLCN2 100.00 1 CNTNAP1 99.98 1 COA7 99.91 1 COQ2 99.90 1 COQ4 100.00 1 COQ8A 100.00 1 COQ9 99.62 1 COX10 99.99 1 COX15 100.00 1 COX20 99.67 1 CP 99.95 1 CPT1C 99.99 1 CSTB 100.00 1 CTBP1 99.98 1 CWF19L1 99.91 1 CYP27A1 100.00 1 CYP2U1 99.99 1 CYP7B1 99.82 1 DAB1 97.87 1 DARS1 98.85 1 DARS2 98.31 1 DBT 94.51 1 DDHD1 99.93 1 DDHD2 99.97 1 DDX3X 99.01 1 DEGS1 99.99 1 DLAT 99.65 1 DLD 99.89 1 DNAJC19 99.76 1 DNAJC3 99.92 1 DNAJC5 99.99 1 DNMT1 99.13 1 DOCK3 99.96 1 EARS2 99.96 1 EBF3 99.99 1 ECHS1 100.00 1 EEF2 99.95 1 EIF2AK1 99.90 1 ELOVL1 100.00 1 ELOVL4 99.91 1 ELOVL5 99.87 1 EMC1 99.85 1 ENTPD1 99.98 1 EPM2A 99.99 1 ERCC1 99.96 1 ERCC4 99.92 1 ERCC8 99.79 1 ERLIN1 99.98 1 ERLIN2 99.94 1 EXOSC3 100.00 1 FA2H 99.98 1 FARS2 100.00 1 FASTKD2 99.93 1 FAT2 99.99 1 FGF14 99.99 1 FITM2 99.99 1 FLRT1 100.00 1 FLVCR1 99.91 1 FOLR1 100.00 1 FRMD4A 100.00 1 FRMD7 99.97 1 GALC 99.92 1 GAN 99.98 1 GBA2 99.99 1 GBE1 99.73 1 GDAP2 95.02 1 GFAP 99.99 1 GFM2 99.87 1 GJC2 100.00 1 GLB1 100.00 1 GLRX5 100.00 1 GLS 99.78 1 GM2A 100.00 1 GOSR2 98.92 1 GPR143 99.60 1 GRID2 99.97 1 GRIN1 100.00 1 GRM1 100.00 1 GRN 100.00 1 GSX2 100.00 1 HACE1 99.76 1 HEXA 99.99 1 HEXB 99.91 1 HSD17B10 99.98 1 HSD17B4 99.71 1 HSPD1 83.42 1 IBA57 100.00 1 IFIH1 99.84 1 IFRD1 99.67 1 IFT140 100.00 1 INTS8 99.89 1 IRF2BPL 99.21 1 ISCA1 99.79 1 ITM2B 99.85 1 ITPR1 99.98 1 JAM2 91.82 1 KANK1 99.99 1 KCNA1 100.00 1 KCNA2 99.99 1 KCNA4 100.00 1 KCNC3 99.98 1 KCND3 99.98 1 KCNJ10 99.98 1 KCNJ6 100.00 1 KCNMA1 99.89 1 KCNQ2 100.00 1 KCTD7 99.98 1 KIDINS220 99.94 1 KIF1A 99.96 1 KIF1C 99.99 1 KIF5A 99.91 1 KLC2 100.00 1 L1CAM 99.98 1 L2HGDH 99.92 1 LAMA1 99.98 1 LAMB1 99.87 1 LIPT2 99.99 1 LYRM7 99.98 1 LYST 99.87 1 ERCC2 99.99 1 MAN2B1 99.99 1 MARS1 99.97 1 MARS2 100.00 1 MCOLN1 100.00 1 MECP2 99.95 1 MLC1 99.99 1 MMADHC 99.76 1 MME 97.17 1 MPV17 99.98 1 MRE11 99.93 1 MRPS34 100.00 1 MSTO1 76.34 1 MTCL1 100.00 1 MTPAP 99.97 1 MTRFR 99.87 1 MTTP 99.92 1 MYORG 99.99 1 NANS 100.00 1 NDUFA9 100.00 1 NDUFAF4 99.95 1 NDUFAF6 99.86 1 NDUFS1 99.79 1 NDUFS3 100.00 1 NDUFS7 99.99 1 NEFL 100.00 1 NEU1 99.98 1 NEXMIF 99.99 1 NF2 100.00 1 NHLRC1 100.00 1 NIPA1 99.91 1 NKX6-2 100.00 1 NOL3 100.00 1 NPC1 99.99 1 NPC2 100.00 1 NT5C2 99.96 1 NTNG2 99.98 1 NUP93 99.87 1 NUS1 99.90 1 OCLN 82.91 1 OFD1 99.68 1 MED12 99.95 1 OPA3 100.00 1 OPHN1 99.92 1 OTC 99.42 1 PARS2 99.99 1 PODXL 99.99 1 PCDH12 100.00 1 PCYT2 100.00 1 PDHA1 99.04 1 PDHX 99.64 1 PDYN 100.00 1 PEX10 100.00 1 PEX16 99.94 1 PEX7 99.72 1 PGAP1 99.56 1 PHYH 100.00 1 PIK3R5 99.99 1 PLA2G6 99.98 1 PLAA 99.79 1 PLD3 99.99 1 PLP1 99.98 1 PMM2 99.93 1 PMPCA 99.99 1 PMPCB 99.94 1 PNKP 100.00 1 PNPLA6 99.99 1 POLG 100.00 1 POLR3A 99.97 1 POLR3B 99.94 1 PRF1 100.00 1 PRKCG 99.99 1 PRNP 100.00 1 PRPS1 99.95 1 PRRT2 99.97 1 PSAP 99.94 1 PSEN1 100.00 1 PTPN23 100.00 1 PTRH2 99.99 1 PUM1 98.14 1 RAB11B 100.00 1 RAB18 99.76 1 RAB3GAP1 99.73 1 RAB3GAP2 99.69 1 REEP1 99.97 1 REEP2 99.99 1 RETREG1 99.99 1 RNASEH2A 99.95 1 RNASEH2B 99.94 1 RNASEH2C 99.99 1 RNF168 99.97 1 RNF170 99.90 1 RNF216 99.99 1 RORA 99.97 1 RPGRIP1L 96.35 1 RTN2 99.98 1 RTN4IP1 99.98 1 RUBCN 100.00 1 SACS 99.97 1 SAMD9L 99.95 1 SAMHD1 99.98 1 SARS1 98.53 1 SCN8A 99.77 1 SCYL1 100.00 1 SDHA 99.98 1 SDHAF1 99.99 1 SDHD 82.93 1 SEPSECS 99.78 1 SETX 99.97 1 SIL1 99.95 1 SLC13A5 99.99 1 SLC16A2 99.97 1 SLC17A5 99.71 1 SLC19A3 99.95 1 SLC1A3 99.98 1 SLC1A4 99.97 1 SLC25A15 100.00 1 SLC25A46 99.88 1 SLC2A1 99.93 1 SLC33A1 99.67 1 SLC44A1 99.90 1 SLC52A2 100.00 1 SLC52A3 99.94 1 SLC6A8 99.99 1 SLC9A1 99.96 1 SLC9A6 99.42 1 SMPD1 100.00 1 SNAP25 99.89 1 SNX14 99.73 1 SOX10 100.00 1 SPART 99.98 1 SPAST 99.77 1 SPG11 99.89 1 SPG21 99.97 1 SPG7 99.99 1 SPR 99.99 1 SPTAN1 99.96 1 SPTBN2 99.98 1 SQSTM1 100.00 1 SRD5A3 99.94 1 STUB1 99.99 1 SUCLA2 99.96 1 SUOX 100.00 1 SURF1 100.00 1 SVBP 99.04 1 SYNE1 99.95 1 SYT14 99.94 1 TANGO2 99.85 1 TBC1D20 100.00 1 TDP1 99.97 1 TDP2 99.97 1 TECPR2 99.96 1 TENM3 99.99 1 TFG 98.68 1 TGM6 99.99 1 THG1L 99.99 1 TMEM216 99.98 1 TMEM231 88.88 1 TMEM240 99.99 1 TMEM67 99.69 1 TMX2 99.99 1 ACD 99.99 1 TRAK1 99.98 1 TRAPPC12 99.96 1 TRAPPC4 100.00 1 TRIT1 99.25 1 TRPC3 99.97 1 TSEN2 99.98 1 TSEN54 100.00 1 TTBK2 99.93 1 TTC19 99.99 1 TTPA 99.88 1 TUBA1A 99.97 1 TUBB4A 100.00 1 TUBG1 99.95 1 TWNK 100.00 1 UBA5 99.95 1 UBAP1 99.51 1 UBTF 99.99 1 UCHL1 99.99 1 UFC1 99.35 1 UFM1 99.25 1 UGP2 99.85 1 USP8 99.67 1 VAMP1 100.00 1 VCP 99.99 1 VLDLR 99.99 1 VPS13B 99.90 1 VPS13D 99.96 1 VPS37A 99.96 1 VRK1 99.98 1 VWA3B 98.82 1 WARS2 97.72 1 WASHC5 99.98 1 WDR45B 100.00 1 WDR48 99.42 1 WDR73 99.92 1 WDR81 100.00 1 WWOX 100.00 1 XRCC1 99.96 1 ZC4H2 99.98 1 ZFR 99.94 1 ZFYVE26 100.00 1 ZFYVE27 99.99 1 -
Hereditary Spastic Paraplegia (94 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCD1 95.00 0 interpretable range CS1>95% ADAR 95.00 0 interpretable range CS1>95% AFG3L2 95.00 0 interpretable range CS1>95% AIMP1 95.00 0 interpretable range CS1>95% ALDH18A1 95.00 0 interpretable range CS1>95% ALDH3A2 95.00 0 interpretable range CS1>95% ALS2 95.00 0 interpretable range CS1>95% AMPD2 95.00 0 interpretable range CS1>95% AP4B1 95.00 0 interpretable range CS1>95% AP4E1 95.00 0 interpretable range CS1>95% AP4M1 95.00 0 interpretable range CS1>95% AP4S1 95.00 0 interpretable range CS1>95% AP5Z1 95.00 0 interpretable range CS1>95% ARL6IP1 95.00 0 interpretable range CS1>95% ARSI 95.00 0 interpretable range CS1>95% ATL1 95.00 0 interpretable range CS1>95% ATP13A2 95.00 0 interpretable range CS1>95% B4GALNT1 95.00 0 interpretable range CS1>95% BICD2 95.00 0 interpretable range CS1>95% BSCL2 95.00 0 interpretable range CS1>95% MTRFR 95.00 0 interpretable range CS1>95% C19ORF12 95.00 0 interpretable range CS1>95% CAPN1 95.00 0 interpretable range CS1>95% CCT5 95.00 0 interpretable range CS1>95% CPT1C 95.00 0 interpretable range CS1>95% CYP27A1 95.00 0 interpretable range CS1>95% CYP2U1 95.00 0 interpretable range CS1>95% CYP7B1 95.00 0 interpretable range CS1>95% DARS1 95.00 0 interpretable range CS1>95% DDHD1 95.00 0 interpretable range CS1>95% DDHD2 95.00 0 interpretable range CS1>95% DSTYK 95.00 0 interpretable range CS1>95% ENTPD1 95.00 0 interpretable range CS1>95% ERLIN1 95.00 0 interpretable range CS1>95% ERLIN2 95.00 0 interpretable range CS1>95% FA2H 95.00 0 interpretable range CS1>95% FARS2 95.00 0 interpretable range CS1>95% FLRT1 95.00 0 interpretable range CS1>95% GBA2 95.00 0 interpretable range CS1>95% GCH1 95.00 0 interpretable range CS1>95% GJC2 95.00 0 interpretable range CS1>95% HACE1 95.00 0 interpretable range CS1>95% HSPD1 95.00 0 interpretable range CS1>95% IBA57 95.00 0 interpretable range CS1>95% KCNA2 95.00 0 interpretable range CS1>95% KDM5C 95.00 0 interpretable range CS1>95% KIDINS220 95.00 0 interpretable range CS1>95% KIF1A 95.00 0 interpretable range CS1>95% KIF1C 95.00 0 interpretable range CS1>95% KIF5A 95.00 0 interpretable range CS1>95% KLC2 95.00 0 interpretable range CS1>95% L1CAM 95.00 0 interpretable range CS1>95% ERCC2 95.00 0 interpretable range CS1>95% MARS1 95.00 0 interpretable range CS1>95% MARS2 95.00 0 interpretable range CS1>95% MTPAP 95.00 0 interpretable range CS1>95% NIPA1 95.00 0 interpretable range CS1>95% NKX6-2 95.00 0 interpretable range CS1>95% NT5C2 95.00 0 interpretable range CS1>95% OPA3 95.00 0 interpretable range CS1>95% PCYT2 95.00 0 interpretable range CS1>95% PGAP1 95.00 0 interpretable range CS1>95% PLP1 95.00 0 interpretable range CS1>95% PNPLA6 95.00 0 interpretable range CS1>95% POLR3A 95.00 0 interpretable range CS1>95% RAB3GAP2 95.00 0 interpretable range CS1>95% REEP1 95.00 0 interpretable range CS1>95% REEP2 95.00 0 interpretable range CS1>95% RNASEH2B 95.00 0 interpretable range CS1>95% RTN2 95.00 0 interpretable range CS1>95% SACS 95.00 0 interpretable range CS1>95% SERAC1 95.00 0 interpretable range CS1>95% SLC16A2 95.00 0 interpretable range CS1>95% SLC1A4 95.00 0 interpretable range CS1>95% SLC2A1 95.00 0 interpretable range CS1>95% SLC33A1 95.00 0 interpretable range CS1>95% SPART 95.00 0 interpretable range CS1>95% SPAST 95.00 0 interpretable range CS1>95% SPG11 95.00 0 interpretable range CS1>95% SPG21 95.00 0 interpretable range CS1>95% SPG7 95.00 0 interpretable range CS1>95% TECPR2 95.00 0 interpretable range CS1>95% TFG 95.00 0 interpretable range CS1>95% TUBB4A 95.00 0 interpretable range CS1>95% UBAP1 95.00 0 interpretable range CS1>95% UCHL1 95.00 0 interpretable range CS1>95% USP8 95.00 0 interpretable range CS1>95% VAMP1 95.00 0 interpretable range CS1>95% VPS37A 95.00 0 interpretable range CS1>95% WASHC5 95.00 0 interpretable range CS1>95% WDR48 95.00 0 interpretable range CS1>95% ZFR 95.00 0 interpretable range CS1>95% ZFYVE26 95.00 0 interpretable range CS1>95% ZFYVE27 95.00 0 interpretable range CS1>95% BRAF 95.00 0 interpretable range CS1>95% CBL 95.00 0 interpretable range CS1>95% HRAS 95.00 0 interpretable range CS1>95% KRAS 95.00 0 interpretable range CS1>95% MAP2K1 95.00 0 interpretable range CS1>95% MAP2K2 95.00 0 interpretable range CS1>95% NRAS 95.00 0 interpretable range CS1>95% PTPN11 95.00 0 interpretable range CS1>95% RAF1 95.00 0 interpretable range CS1>95% SHOC2 95.00 0 interpretable range CS1>95% SOS1 95.00 0 interpretable range CS1>95% RIT1 95.00 0 interpretable range CS1>95% -
Hereditary spastic paraplegia (188 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCD1 97.56 1 ABHD12 88.30 1 ADAR 100.00 1 AFG3L2 94.80 1 AIMP1 99.97 1 ALDH18A1 100.00 1 ALDH3A2 99.94 1 ALS2 100.00 1 AMPD2 99.90 1 ANG 100.00 1 AP4B1 100.00 1 AP4E1 99.99 1 AP4M1 100.00 1 AP4S1 100.00 1 AP5Z1 99.25 1 ARG1 100.00 1 ARL6IP1 100.00 1 ARSI 99.82 1 ASPA 100.00 1 ATAD3A 97.50 1 ATL1 99.89 1 ATP13A2 98.30 1 AUH 99.24 1 B4GALNT1 99.99 1 BICD2 100.00 1 BSCL2 100.00 1 BTD 100.00 1 MTRFR 100.00 1 C19ORF12 100.00 1 CAPN1 99.97 1 CCT5 99.92 1 CDK16 99.96 1 CLN8 100.00 1 COASY 100.00 1 CPT1C 100.00 1 CSF1R 99.99 1 CTNNB1 100.00 1 CYP27A1 99.38 1 CYP2U1 93.20 1 CYP7B1 100.00 1 DARS1 100.00 1 DARS2 100.00 1 DDHD1 99.58 1 DDHD2 100.00 1 DSTYK 100.00 1 ELOVL4 100.00 1 ENTPD1 100.00 1 ERCC2 98.91 1 ERLIN1 100.00 1 ERLIN2 100.00 1 EXOSC3 100.00 1 FA2H 95.71 1 HYCC1 100.00 1 RETREG1 100.00 1 FARS2 100.00 1 FBXO7 99.78 1 FIG4 100.00 1 FLRT1 100.00 1 FRMD7 99.98 1 FUS 100.00 1 FXN 100.00 1 GAD1 100.00 1 GALC 98.98 1 GAN 98.52 1 GARS1 97.89 1 GART 99.99 1 GBA1 100.00 1 GBA2 100.00 1 GBE1 100.00 1 GCH1 99.71 1 GFAP 100.00 1 GJA1 100.00 1 GJC2 96.72 1 GLB1 100.00 1 GLRX5 100.00 1 GLTP 100.00 1 GPR143 89.09 1 GSN 97.80 1 HACE1 98.41 1 HEPACAM 99.85 1 HEXA 100.00 1 HSD17B4 100.00 1 HSPD1 100.00 1 IBA57 92.01 1 IFIH1 100.00 1 IRF2BPL 97.56 1 KCNJ6 100.00 1 KCNMA1 99.93 1 KDM5C 99.97 1 WASHC5 100.00 1 NEXMIF 100.00 1 KIDINS220 100.00 1 KIF1A 98.74 1 KIF1C 100.00 1 KIF5A 100.00 1 KLC2 100.00 1 KLC4 99.99 1 L1CAM 99.98 1 L2HGDH 99.75 1 LAMB1 100.00 1 LYST 100.00 1 MARS1 100.00 1 MARS2 100.00 1 MFN2 100.00 1 MLC1 98.57 1 MTPAP 99.98 1 NANS 100.00 1 NEFL 100.00 1 NIPA1 92.99 1 NKX6-2 100.00 1 NT5C2 100.00 1 OCLN 100.00 1 MED12 99.98 1 OPA3 100.00 1 OPTN 100.00 1 PANK2 100.00 1 PDYN 100.00 1 PGAP1 100.00 1 PLA2G6 100.00 1 PLP1 100.00 1 PNPLA6 99.95 1 POLR3A 100.00 1 POLR3B 100.00 1 PPP2R2B 100.00 1 PRUNE1 100.00 1 PSEN1 100.00 1 PUM1 100.00 1 RAB18 99.99 1 RAB3GAP1 100.00 1 RAB3GAP2 100.00 1 RARS1 99.99 1 REEP1 100.00 1 REEP2 97.04 1 RNASEH2A 100.00 1 RNASEH2B 94.58 1 RNASEH2C 100.00 1 RNASET2 100.00 1 RTN2 99.44 1 SACS 99.95 1 SAMD9L 100.00 1 SAMHD1 100.00 1 SERAC1 100.00 1 SETX 100.00 1 SIL1 99.95 1 SLC16A2 99.97 1 SLC25A15 100.00 1 SLC25A46 100.00 1 SLC2A1 100.00 1 SLC33A1 100.00 1 SLC39A14 99.94 1 SMPD1 100.00 1 SOD1 100.00 1 SOX10 100.00 1 SPAST 99.83 1 SPG11 100.00 1 SPART 100.00 1 SPG21 100.00 1 SPG7 95.78 1 SPR 99.98 1 SUN1 100.00 1 SYNE1 100.00 1 TANGO2 99.94 1 TARDBP 99.43 1 TBC1D20 95.06 1 TECPR2 99.92 1 TFG 99.98 1 TGM6 100.00 1 TH 98.79 1 TRPV4 100.00 1 TTBK2 100.00 1 TUBB4A 100.00 1 TUBG1 100.00 1 UBQLN2 99.30 1 UCHL1 99.66 1 USP8 100.00 1 VAMP1 100.00 1 VAPB 99.77 1 VCP 97.10 1 VPS13B 100.00 1 VPS37A 99.28 1 WDR45 100.00 1 WDR45B 99.94 1 WDR48 100.00 1 ZC4H2 100.00 1 ZFR 100.00 1 ZFYVE26 100.00 1 ZFYVE27 100.00 1 -
Neuromuscular disorders (548 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 0 No comment ABCD1 97.56 0 No comment ABHD12 88.30 0 No comment ABHD5 99.85 0 No comment ACAD9 100.00 0 No comment ACADL 98.57 0 No comment ACADM 99.87 0 No comment ACADS 97.51 0 No comment ACADVL 98.04 0 No comment ACTA1 99.79 0 No comment ACVR1 100.00 0 No comment ADAR 100.00 0 No comment ADSS1 99.98 0 No comment AFG3L2 94.80 0 No comment AGK 100.00 0 No comment AGL 100.00 0 No comment AGRN 96.53 0 No comment AIFM1 99.98 0 No comment AIMP1 99.97 0 No comment ALDH18A1 100.00 0 No comment ALDH3A2 99.94 0 No comment ALDOA 100.00 0 No comment ALG13 99.53 0 No comment ALG14 100.00 0 No comment ALG2 99.83 0 No comment ALS2 100.00 0 No comment AMPD1 100.00 0 No comment AMPD2 99.90 0 No comment ANG 100.00 0 No comment ANO5 100.00 0 No comment ANXA11 99.99 0 No comment AP4B1 100.00 0 No comment AP4E1 99.99 0 No comment AP4M1 100.00 0 No comment AP4S1 100.00 0 No comment AP5Z1 99.25 0 No comment APTX 99.96 0 No comment AR 100.00 0 No comment ARG1 100.00 0 No comment ARHGEF10 99.98 0 No comment ARHGEF28 99.05 0 No comment ARL6IP1 100.00 0 No comment ARSI 99.82 0 No comment ASAH1 100.00 0 No comment ASCC1 91.30 0 No comment ATL1 99.89 0 No comment ATL3 99.93 0 No comment ATM 100.00 0 No comment ATP13A2 98.30 0 No comment ATP1A1 100.00 0 No comment ATP2A1 100.00 0 No comment ATP7A 100.00 0 No comment ATXN2 93.25 0 No comment AUH 99.24 0 No comment B3GALNT2 92.96 0 No comment B4GAT1 99.99 0 No comment B4GALNT1 99.99 0 No comment BAG3 100.00 0 No comment BCS1L 100.00 0 No comment BICD2 100.00 0 No comment BIN1 99.94 0 No comment BSCL2 100.00 0 No comment BVES 100.00 0 No comment TWNK 100.00 0 No comment MTRFR 100.00 0 No comment C19ORF12 100.00 0 No comment C1QBP 99.47 0 No comment C9ORF72 99.96 0 No comment CACNA1A 99.53 0 No comment CACNA1S 100.00 0 No comment CAPN1 99.97 0 No comment CAPN3 99.99 0 No comment CASQ1 100.00 0 No comment CAV3 100.00 0 No comment CCDC78 100.00 0 No comment CCT5 99.92 0 No comment CFL2 100.00 0 No comment CHAT 99.97 0 No comment CHCHD10 99.66 0 No comment CHKB 99.75 0 No comment CHMP2B 100.00 0 No comment CHRNA1 99.99 0 No comment CHRNB1 99.95 0 No comment CHRND 100.00 0 No comment CHRNE 100.00 0 No comment CHRNG 99.87 0 No comment CHST14 99.50 0 No comment CLCN1 100.00 0 No comment CLN3 100.00 0 No comment CLN8 100.00 0 No comment CLTCL1 99.04 0 No comment CNBP 100.00 0 No comment CNTN1 100.00 0 No comment CNTNAP1 100.00 0 No comment COL12A1 100.00 0 No comment COL13A1 99.52 0 No comment COL6A1 99.90 0 No comment COL6A2 99.98 0 No comment COL6A3 100.00 0 No comment COLQ 100.00 0 No comment COQ9 100.00 0 No comment COX10 100.00 0 No comment COX15 99.99 0 No comment COX20 100.00 0 No comment COX6A1 100.00 0 No comment COX6B1 100.00 0 No comment COX8A 100.00 0 No comment CPT1C 100.00 0 No comment CPT2 98.55 0 No comment CRYAB 100.00 0 No comment CSF1R 99.99 0 No comment CTDP1 100.00 0 No comment CYP27A1 99.38 0 No comment CYP2U1 93.20 0 No comment CYP7B1 95.41 0 No comment DAG1 100.00 0 No comment DARS2 100.00 0 No comment DCAF8 100.00 0 No comment DCTN1 100.00 0 No comment DDHD1 99.58 0 No comment DDHD2 100.00 0 No comment DES 100.00 0 No comment DGAT2 100.00 0 No comment DGUOK 100.00 0 No comment DHTKD1 99.54 0 No comment DMD 99.96 0 No comment DMPK 99.91 0 No comment DMXL2 100.00 0 No comment DNAJB2 100.00 0 No comment DNAJB6 91.94 0 No comment DNM2 99.84 0 No comment DNMT1 99.54 0 No comment DOK7 97.44 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment DST 100.00 0 No comment DYNC1H1 99.92 0 No comment DYSF 99.72 0 No comment ECEL1 99.80 0 No comment EGR2 100.00 0 No comment ELOVL4 100.00 0 No comment EMD 98.97 0 No comment ENO3 100.00 0 No comment ENTPD1 100.00 0 No comment ERBB3 100.00 0 No comment ERBB4 100.00 0 No comment ERCC2 98.91 0 No comment ERLIN1 100.00 0 No comment ERLIN2 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment EXOSC3 100.00 0 No comment EXOSC8 100.00 0 No comment FA2H 95.71 0 No comment FAM111B 100.00 0 No comment HYCC1 100.00 0 No comment RETREG1 93.72 0 No comment FARS2 100.00 0 No comment FASTKD2 100.00 0 No comment FBLN5 100.00 0 No comment FBN2 100.00 0 No comment FBXL4 100.00 0 No comment FBXO38 100.00 0 No comment FBXO7 99.78 0 No comment FDX2 100.00 0 No comment FGD4 99.98 0 No comment CFH 100.00 0 No comment FIG4 100.00 0 No comment FKRP 100.00 0 No comment FKTN 100.00 0 No comment FLAD1 100.00 0 No comment FLNC 100.00 0 No comment FLRT1 100.00 0 No comment FLVCR1 100.00 0 No comment FOXRED1 100.00 0 No comment FUS 100.00 0 No comment FXN 94.27 0 No comment GAA 100.00 0 No comment GABRA3 99.59 0 No comment GAD1 100.00 0 No comment GALC 98.98 0 No comment GAN 98.52 0 No comment GARS1 97.89 0 No comment GART 99.99 0 No comment GBA1 100.00 0 No comment GBA2 100.00 0 No comment GBE1 100.00 0 No comment GCH1 99.71 0 No comment GDAP1 100.00 0 No comment GFAP 100.00 0 No comment GFER 99.09 0 No comment GFPT1 99.94 0 No comment GGPS1 100.00 0 No comment GJB1 100.00 0 No comment GJB3 100.00 0 No comment GJC2 96.72 0 No comment GLA 100.00 0 No comment GLB1 100.00 0 No comment GLE1 100.00 0 No comment GLI3 100.00 0 No comment GLTP 100.00 0 No comment GMPPB 100.00 0 No comment GNB4 100.00 0 No comment GNE 100.00 0 No comment GOLGA2 95.41 0 No comment GOSR2 100.00 0 No comment GSN 97.80 0 No comment GYG1 94.40 0 No comment GYS1 100.00 0 No comment HADHA 100.00 0 No comment HADHB 100.00 0 No comment HARS1 99.73 0 No comment HEPACAM 99.85 0 No comment HEXA 100.00 0 No comment HEXB 99.19 0 No comment HINT1 100.00 0 No comment HK1 100.00 0 No comment HNRNPA1 97.19 0 No comment HNRNPA2B1 100.00 0 No comment HNRNPDL 99.98 0 No comment HOXD10 100.00 0 No comment HRAS 100.00 0 No comment HSD17B4 100.00 0 No comment HSPB1 100.00 0 No comment HSPB3 100.00 0 No comment HSPB8 100.00 0 No comment HSPD1 95.18 0 No comment HSPG2 99.19 0 No comment IBA57 92.01 0 No comment IFIH1 100.00 0 No comment IFRD1 98.86 0 No comment IGHMBP2 99.38 0 No comment ELP1 100.00 0 No comment INF2 99.92 0 No comment INPP5K 99.31 0 No comment ISCU 98.41 0 No comment CRPPA 95.50 0 No comment ITGA7 100.00 0 No comment KARS1 100.00 0 No comment KBTBD13 99.16 0 No comment KCNA1 100.00 0 No comment KCNE1 100.00 0 No comment KCNE2 100.00 0 No comment KCNE3 100.00 0 No comment KCNH2 98.15 0 No comment KCNJ12 100.00 0 No comment KCNJ2 100.00 0 No comment KCNQ1 100.00 0 No comment WASHC5 100.00 0 No comment KIF1A 98.74 0 No comment KIF1B 99.84 0 No comment KIF1C 100.00 0 No comment KIF21A 98.54 0 No comment KIF5A 100.00 0 No comment KLC4 99.99 0 No comment KLHL40 100.00 0 No comment KLHL41 100.00 0 No comment KLHL9 100.00 0 No comment KY 100.00 0 No comment L1CAM 99.98 0 No comment LAMA2 100.00 0 No comment LAMA5 98.39 0 No comment LAMB2 100.00 0 No comment LAMP2 99.60 0 No comment LARGE1 100.00 0 No comment LDB3 100.00 0 No comment LDHA 99.42 0 No comment LGI4 100.00 0 No comment LIMS2 91.30 0 No comment LITAF 100.00 0 No comment LMNA 99.28 0 No comment LMOD3 100.00 0 No comment LPIN1 99.97 0 No comment CORIN 99.01 0 No comment LRPPRC 98.80 0 No comment LRSAM1 99.33 0 No comment MARS1 100.00 0 No comment MATR3 100.00 0 No comment MB 100.00 0 No comment MED25 100.00 0 No comment MEGF10 99.99 0 No comment MFN2 100.00 0 No comment MLC1 98.57 0 No comment MAP3K20 100.00 0 No comment MARS2 100.00 0 No comment MME 100.00 0 No comment MORC2 100.00 0 No comment MPV17 100.00 0 No comment MPZ 99.80 0 No comment MSTN 100.00 0 No comment MTM1 99.91 0 No comment MTMR14 99.92 0 No comment MTMR2 99.55 0 No comment MTPAP 99.98 0 No comment MUSK 100.00 0 No comment MYBPC1 100.00 0 No comment MYBPC3 100.00 0 No comment MYH7B 99.85 0 No comment MYH2 100.00 0 No comment MYH3 100.00 0 No comment MYH4 100.00 0 No comment MYH7 100.00 0 No comment MYH8 100.00 0 No comment MYL1 100.00 0 No comment MYO18B 99.80 0 No comment MYO9A 99.74 0 No comment MYOT 100.00 0 No comment MYPN 99.97 0 No comment NAGLU 96.69 0 No comment NDRG1 100.00 0 No comment NDUFA1 100.00 0 No comment NDUFA10 96.45 0 No comment NDUFA11 100.00 0 No comment NDUFA12 100.00 0 No comment NDUFA2 100.00 0 No comment NDUFA3 100.00 0 No comment NDUFA9 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFAF2 100.00 0 No comment NDUFAF5 99.96 0 No comment NDUFAF6 95.61 0 No comment NDUFS1 100.00 0 No comment NDUFS2 100.00 0 No comment NDUFS3 100.00 0 No comment NDUFS4 99.96 0 No comment NDUFS7 93.34 0 No comment NDUFS8 100.00 0 No comment NDUFV1 99.62 0 No comment NDUFV2 100.00 0 No comment NEB 100.00 0 No comment NEFH 81.41 0 No comment NEFL 100.00 0 No comment NEK1 99.98 0 No comment NGF 100.00 0 No comment NIPA1 92.99 0 No comment NT5C2 100.00 0 No comment NTRK1 98.36 0 No comment NUBPL 99.92 0 No comment MED12 99.98 0 No comment OPA3 100.00 0 No comment OPTN 100.00 0 No comment ORAI1 92.14 0 No comment P4HA1 100.00 0 No comment PABPN1 100.00 0 No comment PANK2 100.00 0 No comment PDHA1 92.64 0 No comment PDK3 97.80 0 No comment PDYN 100.00 0 No comment PET100 100.00 0 No comment PEX1 100.00 0 No comment PEX7 95.60 0 No comment PFKM 100.00 0 No comment PFN1 100.00 0 No comment PGAM2 99.97 0 No comment PGAP1 100.00 0 No comment PGK1 99.88 0 No comment PGM1 100.00 0 No comment PHKA1 99.99 0 No comment PHKB 99.97 0 No comment PHOX2A 96.24 0 No comment PHYH 99.81 0 No comment PIEZO2 100.00 0 No comment PIP5K1C 94.98 0 No comment PLA2G6 100.00 0 No comment PLEC 99.26 0 No comment PLEKHG5 100.00 0 No comment PLP1 100.00 0 No comment PMP2 100.00 0 No comment PMP22 100.00 0 No comment PNKP 99.84 0 No comment PNPLA2 98.21 0 No comment PNPLA6 99.95 0 No comment PNPLA8 100.00 0 No comment POGLUT1 100.00 0 No comment POLG 100.00 0 No comment POLG2 100.00 0 No comment POLR3A 100.00 0 No comment POLR3B 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.53 0 No comment PPP2R2B 100.00 0 No comment PRDM12 81.28 0 No comment PREPL 99.98 0 No comment PRKAG2 95.75 0 No comment PRNP 99.92 0 No comment PRPH 99.62 0 No comment PRPS1 99.91 0 No comment PRUNE1 100.00 0 No comment PRX 99.89 0 No comment PSEN1 100.00 0 No comment HACD1 94.60 0 No comment CAVIN1 100.00 0 No comment PTRH2 99.91 0 No comment PUS1 100.00 0 No comment PYGM 100.00 0 No comment PYROXD1 99.99 0 No comment RAB3GAP2 100.00 0 No comment RAB7A 100.00 0 No comment RAPSN 100.00 0 No comment RBCK1 99.76 0 No comment RBM7 100.00 0 No comment REEP1 100.00 0 No comment REEP2 97.04 0 No comment RNASEH2B 94.58 0 No comment RNASET2 100.00 0 No comment RRM2B 100.00 0 No comment RTN2 99.44 0 No comment RYR1 99.39 0 No comment RYR3 100.00 0 No comment SACS 99.95 0 No comment SBF1 98.38 0 No comment SBF2 99.92 0 No comment SCN10A 100.00 0 No comment SCN11A 99.98 0 No comment SCN4A 100.00 0 No comment SCN5A 100.00 0 No comment SCN9A 99.99 0 No comment SCO1 100.00 0 No comment SCO2 93.85 0 No comment SELENON 84.10 0 No comment SEPTIN9 99.38 0 No comment SETX 100.00 0 No comment SGCA 100.00 0 No comment SGCB 91.50 0 No comment SGCD 100.00 0 No comment SGCE 93.30 0 No comment SGCG 100.00 0 No comment SGPL1 100.00 0 No comment SH3TC2 100.00 0 No comment SIGMAR1 92.51 0 No comment SIL1 99.95 0 No comment SLC12A6 100.00 0 No comment SLC16A1 100.00 0 No comment SLC16A2 99.97 0 No comment SLC18A3 100.00 0 No comment SLC22A5 100.00 0 No comment SLC25A15 100.00 0 No comment SLC25A20 100.00 0 No comment SLC25A4 99.81 0 No comment SLC25A42 99.60 0 No comment SLC25A46 100.00 0 No comment SLC2A1 100.00 0 No comment SLC33A1 100.00 0 No comment SLC52A2 100.00 0 No comment SLC52A3 99.86 0 No comment SLC5A7 100.00 0 No comment SMCHD1 100.00 0 No comment SMN1 100.00 0 No comment SNAP25 100.00 0 No comment SOD1 100.00 0 No comment SOX10 95.36 0 No comment SPAST 99.83 0 No comment SPEG 98.78 0 No comment SPG11 100.00 0 No comment SPART 100.00 0 No comment SPG21 100.00 0 No comment SPG7 95.78 0 No comment SPR 99.98 0 No comment SPTBN4 98.07 0 No comment SPTLC1 99.27 0 No comment SPTLC2 96.43 0 No comment SQSTM1 94.05 0 No comment SRPK3 98.13 0 No comment STAC3 100.00 0 No comment STIM1 100.00 0 No comment SUCLA2 99.86 0 No comment SUCLG1 93.27 0 No comment SUN1 100.00 0 No comment SURF1 100.00 0 No comment SYNE1 100.00 0 No comment SYNE2 100.00 0 No comment SYT2 99.96 0 No comment TACO1 99.66 0 No comment TANGO2 99.94 0 No comment TARDBP 100.00 0 No comment TARS2 100.00 0 No comment WWTR1 97.30 0 No comment TBCE 100.00 0 No comment TBK1 99.99 0 No comment TCAP 100.00 0 No comment TDP1 100.00 0 No comment TECPR2 99.92 0 No comment TFG 99.98 0 No comment TGM6 100.00 0 No comment TH 98.79 0 No comment TIA1 100.00 0 No comment TK2 100.00 0 No comment TMEM43 100.00 0 No comment RXYLT1 100.00 0 No comment TMEM65 90.50 0 No comment MYMK 100.00 0 No comment TNNI2 100.00 0 No comment TNNT1 94.05 0 No comment TNNT3 100.00 0 No comment TNPO3 100.00 0 No comment TOR1A 99.70 0 No comment TOR1AIP1 100.00 0 No comment TPI1 99.90 0 No comment TPM2 100.00 0 No comment TPM3 98.74 0 No comment TRAPPC11 99.97 0 No comment TRIM2 100.00 0 No comment TRIM32 100.00 0 No comment TRIM54 96.63 0 No comment TRIM63 100.00 0 No comment TRIP4 100.00 0 No comment TRMT5 100.00 0 No comment TRPV4 100.00 0 No comment TSFM 86.80 0 No comment TTBK2 100.00 0 No comment TTN 100.00 0 No comment TTR 100.00 0 No comment TUBA4A 100.00 0 No comment TUBB3 99.01 0 No comment TUBB4A 100.00 0 No comment TYMP 100.00 0 No comment UBA1 100.00 0 No comment UBQLN2 99.30 0 No comment UNC13A 99.74 0 No comment USP8 100.00 0 No comment VAMP1 100.00 0 No comment VAPB 99.77 0 No comment VARS2 100.00 0 No comment VCP 97.10 0 No comment VMA21 77.99 0 No comment VPS33B 100.00 0 No comment VPS37A 99.28 0 No comment VRK1 100.00 0 No comment WARS1 100.00 0 No comment WDR45 100.00 0 No comment WDR48 100.00 0 No comment WNK1 100.00 0 No comment XK 99.44 0 No comment YARS1 100.00 0 No comment YARS2 100.00 0 No comment ZC4H2 100.00 0 No comment ZFHX2 100.00 0 No comment ZFR 100.00 0 No comment ZFYVE26 100.00 0 No comment ZFYVE27 100.00 0 No comment -
Spastic Paraplegia (89 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ALS2 100.00 1 NM_020919.4 AMPD2 100.00 1 NM_001368809.2 AP4B1 100.00 1 NM_001253852.3 AP4E1 100.00 1 NM_007347.5 AP4M1 100.00 1 NM_004722.4 AP4S1 100.00 1 NM_001128126.3 AP5Z1 100.00 1 NM_014855.3 ARL6IP1 100.00 1 NM_015161.3 ARSI 100.00 1 NM_001012301.4 ATL1 100.00 1 NM_015915.5 B4GALNT1 100.00 1 NM_001478.5 BICD2 100.00 1 NM_001003800.2 BSCL2 100.00 1 NM_001122955.3 MTRFR 100.00 1 NM_152269.5 C19ORF12 100.00 1 NM_031448.6 CCT5 100.00 1 NM_012073.5 CYP2U1 100.00 1 NM_183075.3 CYP7B1 100.00 1 NM_004820.5 DDHD1 100.00 1 NM_001160148.2 DDHD2 100.00 1 NM_015214.3 ENTPD1 100.00 1 NM_001776.6 ERLIN1 100.00 1 NM_006459.4 ERLIN2 100.00 1 NM_007175.8 FA2H 100.00 1 NM_024306.5 FLRT1 100.00 1 NM_013280.4 GAD1 100.00 1 NM_000817.3 GBA2 100.00 1 NM_020944.3 GJA1 100.00 1 NM_000165.5 GJC2 100.00 1 NM_020435.4 HSPD1 100.00 1 NM_002156.5 KIF1A 100.00 1 NM_001244008.1 KIF1C 100.00 1 NM_006612.6 KIF5A 100.00 1 NM_004984.4 L1CAM 100.00 1 NM_001278116.2 MAG 100.00 1 NM_002361.4 MARS1 100.00 1 NM_004990.4 NIPA1 100.00 1 NM_144599.5 NT5C2 100.00 1 NM_001351169.2 PGAP1 100.00 1 NM_024989.4 PLP1 100.00 1 NM_000533.5 PNPLA6 100.00 1 NM_001166111.2 RAB3GAP2 100.00 1 NM_012414.4 REEP1 100.00 1 NM_001371279.1 REEP2 100.00 1 NM_001271803.2 RTN2 100.00 1 NM_005619.5 SACS 100.00 1 NM_014363.6 SETX 100.00 1 NM_015046.7 SLC16A2 100.00 1 NM_006517.5 SLC33A1 100.00 1 NM_004733.4 SPART 100.00 1 NM_015087.5 SPAST 100.00 1 NM_014946.3 SPG11 100.00 1 NM_025137.4 SPG21 100.00 1 NM_016630.7 SPG7 100.00 1 NM_003119.4 TECPR2 100.00 1 NM_014844.5 TFG 100.00 1 NM_006070.6 USP8 100.00 1 NM_005154.5 VCP 100.00 1 NM_007126.5 VPS37A 100.00 1 NM_152415.3 WASHC5 100.00 1 NM_014846.4 WDR48 100.00 1 NM_020839.4 ZFR 100.00 1 NM_016107.5 ZFYVE26 100.00 1 NM_015346.4 ADAR 100.00 1 NM_001111.5 AFG3L2 100.00 1 NM_006796.3 ALDH18A1 100.00 1 NM_002860.4 ALDH3A2 100.00 1 NM_000382.3 ATXN1 100.00 1 NM_000332.3 CAPN1 100.00 1 NM_005186.4 COA8 100.00 1 NM_001370595.1 CPT1C 100.00 1 NM_001199753.1 CYP27A1 100.00 1 NM_000784.4 DSTYK 100.00 1 NM_015375.3 FARS2 100.00 1 NM_006567.5 GFAP 100.00 1 NM_002055.5 GLRX5 100.00 1 NM_016417.3 HACE1 100.00 1 NM_020771.4 IBA57 100.00 1 NM_001010867.4 ITPR1 100.00 1 NM_001168272.1 KIDINS220 100.00 1 NM_020738.4 KLC2 100.00 1 NM_001134775.1 KLC4 100.00 1 NM_201521.3 PCYT2 100.00 1 NM_002861.5 RAB18 100.00 1 NM_021252.5 RAB3GAP1 100.00 1 NM_012233.3 TBC1D20 100.00 1 NM_144628.4 UBAP1 100.00 1 NM_016525.5 UCHL1 100.00 1 NM_004181.5 ZFYVE27 100.00 1 NM_001002261.3