- Diseases
- Niemann-Pick disease type C, severe perinatal form
Niemann-Pick disease type C, severe perinatal form
Name: |
Niemann-Pick disease type C, severe perinatal form
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ORPHAcode: |
216972
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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 -
Lysomal Storage (64 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADCY5 94.52 0 No comment AGA 100.00 0 No comment ARSA 100.00 0 No comment SLURP1 85.73 0 No comment ASAH1 99.94 0 No comment CHIT1 100.00 0 No comment CLN3 100.00 0 No comment CLN5 99.94 0 No comment CLN6 90.35 0 No comment CLN8 100.00 0 No comment CTNS 100.00 0 No comment CTSA 100.00 0 No comment CTSC 100.00 0 No comment CTSD 99.45 0 No comment CTSK 100.00 0 No comment DGUOK 100.00 0 No comment FBXL4 100.00 0 No comment FUCA1 100.00 0 No comment GAA 100.00 0 No comment GALC 98.44 0 No comment GALNS 96.18 0 No comment GBA1 100.00 0 No comment GLA 100.00 0 No comment GLB1 100.00 0 No comment GM2A 100.00 0 No comment GNPTAB 100.00 0 No comment GNPTG 94.69 0 No comment GNS 100.00 0 No comment GUSB 100.00 0 No comment HEXA 100.00 0 No comment HEXB 99.82 0 No comment HGSNAT 93.95 0 No comment HYAL1 100.00 0 No comment IDS 100.00 0 No comment IDUA 88.67 0 No comment LAMP2 100.00 0 No comment LIPA 100.00 0 No comment MAN2B1 100.00 0 No comment MANBA 99.97 0 No comment MCOLN1 97.27 0 No comment MFSD8 100.00 0 No comment MGME1 100.00 0 No comment MPV17 100.00 0 No comment NAGA 100.00 0 No comment NAGLU 87.38 0 No comment NEU1 100.00 0 No comment NPC1 98.40 0 No comment NPC2 100.00 0 No comment OCRL 99.77 0 No comment POLG 100.00 0 No comment PPT1 100.00 0 No comment PSAP 100.00 0 No comment RRM2B 100.00 0 No comment SGSH 99.99 0 No comment SLC17A5 100.00 0 No comment SMPD1 100.00 0 No comment STS 100.00 0 No comment SUCLA2 100.00 0 No comment SUCLG1 95.74 0 No comment SUMF1 100.00 0 No comment TK2 95.90 0 No comment ACD 100.00 0 No comment TWNK 100.00 0 No comment TYMP 91.72 0 No comment