- Diseases
- Wilson disease
Wilson disease
Name: |
Wilson disease
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Description: |
A rare genetic disorder of copper metabolism presenting with non-specific hepatic, neurologic, psychiatric or ophthalmologic manifestations due to impaired biliary copper excretion and consecutive excessive copper deposition in the body.
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ORPHAcode: |
905
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Synonyms: |
Hepatolenticular degeneration
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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Dystonia (68 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments PRKRA 93.20 0 NM_003690.4 ARX 96.10 0 NM_139058.2 CACNA1B 97.90 0 NM_000718.3 KMT2B 98.40 0 NM_014727.2 ADCY5 98.60 0 NM_183357.2 CIZ1 98.80 0 NM_012127.2 TH 99.10 0 NM_199292.2 SMPD1 99.30 0 NM_000543.4 CP 99.50 0 NM_000096.3 PRRT2 99.60 0 NM_145239.2 SUCLG1 99.60 0 NM_003849.3 PLA2G6 99.70 0 NM_003560.3 TBCD 99.70 0 NM_005993.4 ANO3 99.70 0 NM_031418.3 TOR1A 99.70 0 NM_000113.2 GCDH 99.90 0 NM_000159.3 NPC1 99.90 0 NM_000271.4 FA2H 99.90 0 NM_024306.4 TAF1 99.90 0 NM_004606.4 SPR 99.90 0 NM_003124.4 PTS 100.00 0 NM_000317.2 DCAF17 100.00 0 NM_025000.3 ATP7B 100.00 0 NM_000053.3 SLC39A14 100.00 0 NM_015359.5 C19ORF12 100.00 0 NM_001031726.3 RELN 100.00 0 NM_005045.3 ATM 100.00 0 NM_000051.3 CACNA1A 100.00 0 NM_002143.2 CYP27A1 100.00 0 NM_000784.3 KCTD17 100.00 0 NM_001282684.1 NKX2-1 100.00 0 NM_001079668.2 PANK2 100.00 0 NM_153638.3 VPS13A 100.00 0 NM_033305.2 COL6A3 100.00 0 NM_004369.3 ACTB 100.00 0 NM_001101.4 ARSA 100.00 0 NM_000487.5 ATP1A3 100.00 0 NM_152296.5 AUH 100.00 0 NM_001698.2 BCAP31 100.00 0 NM_001139441.1 COASY 100.00 0 NM_025233.6 DDC 100.00 0 NM_000790.3 DRD2 100.00 0 NM_000795.3 FTL 100.00 0 NM_000146.3 GCH1 100.00 0 NM_000161.2 GLB1 100.00 0 NM_000404.3 GNAL 100.00 0 NM_001142339.2 GNAO1 100.00 0 NM_020988.2 GNB1 100.00 0 NM_002074.4 HEXA 100.00 0 NM_000520.5 HEXB 100.00 0 NM_000521.3 HPRT1 100.00 0 NM_000194.2 KCNMA1 100.00 0 NM_002247.3 MECR 100.00 0 NM_016011.4 MR1 100.00 0 NM_001194999.1 NPC2 100.00 0 NM_006432.3 PNKD 100.00 0 NM_015488.4 SERAC1 100.00 0 NM_032861.3 SGCE 100.00 0 NM_003919.2 SLC18A2 100.00 0 NM_003054.4 SLC19A3 100.00 0 NM_025243.3 SLC2A1 100.00 0 NM_006516.2 SLC30A10 100.00 0 NM_018713.2 SLC6A3 100.00 0 NM_001044.4 THAP1 100.00 0 NM_018105.2 TIMM8A 100.00 0 NM_004085.3 TUBB4A 100.00 0 NM_006087.3 VAC14 100.00 0 NM_018052.4 WDR45 100.00 0 NM_007075.3 -
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 -
Metabolic diseases with hepatic disorders (20 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ATP7B 100.00 1 Part of Custom Gastro-pneumo panel CPT1A 100.00 1 Part of Custom Gastro-pneumo panel CYP27A1 100.00 1 Part of Custom Gastro-pneumo panel DGUOK 100.00 1 Part of Custom Gastro-pneumo panel DHCR7 100.00 1 Part of Custom Gastro-pneumo panel EHHADH 100.00 1 Part of Custom Gastro-pneumo panel GBE1 100.00 1 Part of Custom Gastro-pneumo panel GNAS 0.00 1 Part of Custom Gastro-pneumo panel / only Exons 8 and 9 GUSB 100.00 1 Part of Custom Gastro-pneumo panel LIPA 100.00 1 Part of Custom Gastro-pneumo panel MPV17 100.00 1 Part of Custom Gastro-pneumo panel NEU1 100.00 1 Part of Custom Gastro-pneumo panel NPC1 100.00 1 Part of Custom Gastro-pneumo panel NPC2 100.00 1 Part of Custom Gastro-pneumo panel POLG 100.00 1 Part of Custom Gastro-pneumo panel SI 100.00 1 Part of Custom Gastro-pneumo panel SLC25A13 100.00 1 Part of Custom Gastro-pneumo panel SMPD1 100.00 1 Part of Custom Gastro-pneumo panel TALDO1 100.00 1 Part of Custom Gastro-pneumo panel TRMU 100.00 1 Part of Custom Gastro-pneumo panel