- Analytes
- TMEM63C
TMEM63C
Name: |
transmembrane protein 63C
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Symbol: |
TMEM63C
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Version of Orphanet: |
2023-06-22 14:14:43
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XREF(s): | |
Created: |
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Changed: |
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Cerebral palsy (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACOX1 100.00 1 ACTA2 100.00 1 ADA2 100.00 1 ADAR 99.98 1 ADCY5 100.00 1 ADD3 100.00 1 ADGRG1 100.00 1 AFG3L2 100.00 1 AGAP1 100.00 1 AHI1 99.95 1 AIMP1 99.99 1 AKT3 99.95 1 ALDH3A2 99.99 1 ALDH5A1 100.00 1 ALS2 99.99 1 AMFR 95.21 1 AMPD2 100.00 1 AMT 100.00 1 AP1S2 99.98 1 AP4B1 99.99 1 AP4E1 99.98 1 AP4M1 100.00 1 AP4S1 87.79 1 ARFGEF2 100.00 1 ARG1 100.00 1 ARL13B 93.63 1 ARSA 100.00 1 ARX 99.93 1 ASPA 99.97 1 ATAD3A 100.00 1 ATG5 99.98 1 ATG7 100.00 1 ATL1 100.00 1 ATM 99.97 1 ATP1A3 100.00 1 ATP7B 100.00 1 AUTS2 99.99 1 BCKDHA 100.00 1 BCKDHB 100.00 1 BSCL2 100.00 1 BTD 100.00 1 CACNA1A 100.00 1 CAMK4 100.00 1 CAMSAP1 99.97 1 CCDC82 99.98 1 CCND2 100.00 1 CDC40 99.99 1 CDKL5 100.00 1 CEP290 99.84 1 CHKA 97.23 1 CLN3 100.00 1 CNTNAP2 100.00 1 COL4A1 100.00 1 COL4A2 100.00 1 COLGALT1 98.45 1 COPB2 100.00 1 COQ8A 100.00 1 CRADD 100.00 1 CTNNB1 100.00 1 CYP2U1 99.27 1 CYP7B1 99.95 1 DARS1 100.00 1 DBT 100.00 1 DCX 100.00 1 DDC 100.00 1 DDHD1 100.00 1 DDHD2 99.97 1 DGUOK 100.00 1 DLD 100.00 1 DSTYK 100.00 1 DYNC1H1 100.00 1 DYRK1A 100.00 1 EIF2B1 100.00 1 EIF2B2 100.00 1 EIF2B3 100.00 1 EIF2B4 100.00 1 EIF2B5 100.00 1 EIF4A2 99.97 1 ELP2 99.99 1 EML1 100.00 1 EPHB4 99.99 1 ERLIN2 100.00 1 ERMARD 100.00 1 ESAM 100.00 1 F10 100.00 1 HYCC1 99.98 1 FARS2 100.00 1 FBXO31 99.94 1 FH 100.00 1 FLVCR2 100.00 1 FOXC1 99.89 1 FOXG1 100.00 1 FRMD5 100.00 1 GAD1 100.00 1 GALC 99.99 1 GALT 100.00 1 GAMT 100.00 1 GBA1 100.00 1 GCH1 100.00 1 GCSH 99.93 1 GEMIN5 100.00 1 GFAP 100.00 1 GJC2 99.67 1 GLB1 100.00 1 GLDC 99.96 1 GLRA1 100.00 1 GM2A 100.00 1 GNAO1 100.00 1 GNB1 99.98 1 GPHN 100.00 1 GRID2 100.00 1 GRIN1 100.00 1 GRIN2B 100.00 1 HECTD4 99.98 1 HEPACAM 100.00 1 HESX1 99.97 1 HEXA 100.00 1 HIKESHI 100.00 1 HPRT1 100.00 1 HSPD1 100.00 1 IFIH1 99.99 1 INTS8 99.98 1 ISG15 100.00 1 ITPR1 100.00 1 JAM3 100.00 1 KANK1 100.00 1 KATNB1 100.00 1 KCNC3 99.10 1 KCNQ2 100.00 1 KDM5C 99.07 1 KIDINS220 100.00 1 KIF1A 100.00 1 KIF1C 100.00 1 KIF2A 99.98 1 KIF5A 100.00 1 KIF5C 100.00 1 KPNA3 100.00 1 L1CAM 100.00 1 L2HGDH 99.97 1 LAMA2 100.00 1 LAMC3 99.77 1 LMBRD2 99.96 1 MACF1 100.00 1 MARS1 100.00 1 MARS2 100.00 1 MCPH1 94.71 1 MECP2 100.00 1 MINPP1 99.99 1 MMUT 99.96 1 MOCS1 100.00 1 MOCS2 100.00 1 MRPS25 100.00 1 MTHFR 100.00 1 MTOR 99.99 1 MTPAP 99.99 1 MTRFR 100.00 1 MTTP 100.00 1 NDE1 100.00 1 NIPA1 99.99 1 NKX2-1 100.00 1 NKX6-2 100.00 1 NOTCH3 99.79 1 NPC1 99.99 1 NPC2 100.00 1 NPHP1 99.98 1 NSRP1 99.99 1 NT5C2 100.00 1 PAFAH1B1 99.97 1 PAK3 99.99 1 PANK2 100.00 1 PCCA 99.99 1 PCCB 100.00 1 PCYT2 99.91 1 PDHA1 100.00 1 PDHX 100.00 1 PHYH 100.00 1 PIK3CA 99.97 1 PITRM1 99.99 1 PLA2G6 100.00 1 PLAA 100.00 1 PLP1 100.00 1 PMM2 100.00 1 PNP 100.00 1 POLG 99.99 1 POLR1C 97.57 1 POLR3A 100.00 1 POLR3B 99.98 1 PPIL1 100.00 1 PPT1 100.00 1 PRDM13 100.00 1 PYCR2 100.00 1 QDPR 100.00 1 RAB11B 100.00 1 RARS1 99.68 1 RASA1 99.86 1 REEP1 100.00 1 RELN 100.00 1 RHOB 100.00 1 RNASEH2A 100.00 1 RNASEH2B 99.96 1 RNASEH2C 100.00 1 RNASET2 100.00 1 RNU7-1 0.29 1 RTN2 100.00 1 SACS 99.99 1 SAMHD1 100.00 1 SCN3A 99.98 1 SCN8A 99.99 1 SELENOI 100.00 1 SEPSECS 99.96 1 SHH 100.00 1 SHQ1 100.00 1 SIX3 100.00 1 SLC16A2 100.00 1 SLC17A5 99.99 1 SLC18A2 100.00 1 SLC19A3 99.98 1 SLC2A1 100.00 1 SLC5A6 100.00 1 SLC6A1 100.00 1 SLC6A5 100.00 1 SPAST 100.00 1 SPG11 100.00 1 SPG7 100.00 1 SPR 100.00 1 SPTBN2 100.00 1 ST3GAL5 99.94 1 STAT2 100.00 1 STING1 100.00 1 STXBP1 100.00 1 SUOX 100.00 1 SURF1 99.77 1 TAF2 99.98 1 TCTN1 94.52 1 TECPR2 100.00 1 TFG 99.73 1 TGIF1 100.00 1 TH 100.00 1 THG1L 100.00 1 TMEM63C 100.00 1 TMX2 100.00 1 TNR 100.00 1 TPP1 100.00 1 TRAPPC12 100.00 1 TREX1 100.00 1 TSEN15 100.00 1 TSEN2 86.92 1 TSEN54 99.54 1 TTI1 100.00 1 TTPA 100.00 1 TUBA1A 100.00 1 TUBA8 100.00 1 TUBB 100.00 1 TUBB2A 100.00 1 TUBB2B 100.00 1 TUBB3 100.00 1 TUBB4A 99.87 1 TUBG1 100.00 1 UBE3A 99.98 1 USP18 100.00 1 VLDLR 100.00 1 VPS11 100.00 1 VPS37A 99.99 1 VPS53 99.98 1 WDR62 100.00 1 YY1AP1 100.00 1 ZBTB18 99.88 1 ZC4H2 100.00 1 ZFYVE26 100.00 1 ZIC2 100.00 1 -
Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AMPD2 99.99 1 AP4B1 99.97 1 ATP13A2 99.98 1 CAMTA1 99.97 1 COA7 100.00 1 COQ8A 100.00 1 COX20 99.40 1 DARS2 99.86 1 EIF2B3 99.95 1 FLVCR1 99.93 1 GDAP2 99.96 1 GJC2 96.12 1 HPDL 100.00 1 IBA57 96.45 1 KCNA2 100.00 1 KCND3 100.00 1 MMACHC 99.99 1 MSTO1 98.87 1 PUM1 99.95 1 RNF220 99.95 1 SLC9A1 99.86 1 TMEM240 99.83 1 TOE1 99.99 1 VPS13D 99.85 1 ALDH18A1 99.96 1 CWF19L1 99.89 1 ENTPD1 99.90 1 ERLIN1 99.96 1 NKX6-2 96.38 1 NT5C2 99.89 1 PHYH 99.65 1 POLR3A 99.95 1 ATM 99.83 1 BSCL2 100.00 1 CAPN1 100.00 1 CLP1 100.00 1 FAR1 99.83 1 HIKESHI 99.89 1 MRE11 99.90 1 SCYL1 99.64 1 SPTBN2 99.99 1 TPP1 99.88 1 AAAS 99.98 1 B4GALNT1 99.95 1 EIF2B1 99.96 1 KCNA1 99.96 1 KIF5A 99.93 1 MTRFR 99.85 1 PRICKLE1 99.97 1 SCN8A 99.90 1 VAMP1 99.70 1 ATP7B 99.99 1 ATP8A2 99.96 1 EXOSC8 99.69 1 FGF14 99.79 1 KPNA3 99.96 1 SACS 99.98 1 SPART 99.99 1 AP4S1 87.70 1 ATL1 99.95 1 DDHD1 99.98 1 EIF2B2 99.84 1 GALC 99.88 1 GCH1 99.74 1 GLRX5 98.29 1 IRF2BPL 98.65 1 NPC2 99.99 1 TMEM63C 99.99 1 VRK1 99.94 1 ZFYVE26 99.96 1 AP4E1 99.89 1 CLN6 98.04 1 HEXA 99.98 1 NIPA1 96.26 1 POLG 99.98 1 SPG11 99.94 1 SPG21 99.99 1 TTBK2 99.88 1 WDR73 99.99 1 ARL6IP1 99.84 1 CHMP1A 100.00 1 FA2H 99.93 1 SPG7 99.99 1 STUB1 99.73 1 CACNA1G 99.89 1 COASY 99.98 1 GFAP 99.94 1 GOSR2 99.75 1 KIF1C 99.99 1 NPTX1 99.35 1 PCYT2 97.60 1 TSEN54 98.24 1 VPS53 99.98 1 WDR45B 99.96 1 WDR81 100.00 1 AFG3L2 99.82 1 NPC1 99.84 1 ATCAY 99.99 1 ATP1A3 99.99 1 C19ORF12 99.36 1 CACNA1A 99.66 1 CPT1C 99.99 1 DNMT1 99.88 1 EEF2 99.99 1 KCNC3 94.29 1 MAG 99.81 1 OPA3 100.00 1 PNKP 100.00 1 PNPLA6 99.88 1 PRKCG 99.90 1 RTN2 99.99 1 TUBB4A 98.81 1 ALS2 99.91 1 ATP5MC3 100.00 1 CYP27A1 99.96 1 DARS1 99.87 1 EIF2B4 99.94 1 HSPD1 99.95 1 KIDINS220 99.97 1 KIF1A 99.96 1 MARS2 100.00 1 PGAP1 99.64 1 REEP1 99.99 1 SELENOI 99.88 1 SLC1A4 99.95 1 SPAST 99.83 1 ABHD12 99.11 1 DNAJC5 99.99 1 PDYN 99.98 1 TGM6 100.00 1 ARSA 100.00 1 PLA2G6 99.98 1 ANO10 99.92 1 ATG7 99.98 1 BTD 99.99 1 CACNA2D2 99.32 1 CLCN2 99.97 1 CTNNB1 99.98 1 EIF2B5 99.95 1 ITPR1 99.94 1 OPA1 99.87 1 RUBCN 99.94 1 SLC33A1 99.82 1 TFG 99.34 1 TSEN2 86.92 1 AIMP1 99.90 1 CYP2U1 97.44 1 EXOSC9 99.86 1 GRID2 99.98 1 MTTP 99.96 1 RFC1 99.44 1 SEPSECS 99.84 1 UCHL1 99.99 1 CCT5 99.97 1 FAT2 99.94 1 HEXB 99.91 1 PCDH12 100.00 1 REEP2 100.00 1 SIL1 99.99 1 SLC1A3 99.90 1 SLC25A46 99.93 1 SQSTM1 100.00 1 THG1L 99.95 1 ABHD16A 100.00 1 ARG1 99.98 1 ELOVL4 99.92 1 ELOVL5 99.95 1 FARS2 99.98 1 GRM1 99.87 1 HACE1 99.91 1 PEX7 99.87 1 RARS2 97.34 1 SNX14 99.73 1 SYNE1 99.96 1 TDP2 99.85 1 AP4M1 100.00 1 AP5Z1 99.94 1 COG5 99.92 1 IFRD1 99.96 1 PMPCB 99.98 1 RNF216 99.99 1 SAMD9L 99.98 1 VPS41 99.95 1 CA8 99.97 1 CYP7B1 99.87 1 DDHD2 99.74 1 ERLIN2 99.94 1 GPAA1 99.88 1 RNF170 99.94 1 TTPA 99.97 1 WASHC5 99.90 1 APTX 99.92 1 AUH 99.95 1 EXOSC3 99.98 1 GBA2 99.97 1 INPP5E 99.75 1 PMPCA 99.99 1 SETX 99.96 1 SPTAN1 99.97 1 UBAP1 99.96 1 VLDLR 99.93 1 ABCB7 98.62 1 ABCD1 99.78 1 AIFM1 99.43 1 AP1S2 97.43 1 ATP2B3 99.82 1 CASK 99.40 1 L1CAM 99.90 1 PLP1 99.93 1