- Diseases
- Hereditary neuropathy with liability to pressure palsies
Hereditary neuropathy with liability to pressure palsies
Name: |
Hereditary neuropathy with liability to pressure palsies
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Description: |
A rare neurologic disease characterized by recurrent mononeuropathies usually triggered by minor physical activities innocuous to healthy people.
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ORPHAcode: |
640
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Synonyms: |
Current pressure-sensitive neuropathy
HNPP
Heterozygous microdeletion 17p11.2p12
Potato-grubbing palsy
Tomaculous neuropathy
Tulip-bulb digger's palsy
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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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- Charcot-Marie-Tooth (other than type 1A) (gene panel, IPN panel)
- Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies
- Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies
- Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies
- Charcot-Marie-Tooth type 1A (CMT1A) / Hereditary Neuropathy with Liability to Pressure Palsies
- Charcot-Marie-Tooth type 1A (CMT1A) / Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
- Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
- Neuropathy (gene panel)
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Inherited Peripheral Neuropathies gene panel (165 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments VWA1 89.29 0 , PRDM12 92.40 0 , SORD 94.99 0 , ABHD12 98.57 0 , NAGLU 98.71 0 , CTDP1 99.13 0 , CHCHD10 99.42 0 , GSN 99.43 0 , APTX 99.61 0 , RETREG1 99.71 0 , DNMT1 99.76 0 , NEFH 99.80 0 , TBCE 99.80 0 , PRX 99.83 0 , CPOX 99.85 0 , PRNP 99.86 0 , SEPTIN9 99.87 0 , PEX7 99.90 0 , NEFL 99.91 0 , TYMP 99.91 0 , IARS2 99.92 0 , PLEKHG5 99.93 0 , AGTPBP1 99.93 0 , NDRG1 99.93 0 , DGAT2 99.93 0 , ITPR3 99.94 0 , PDK3 99.94 0 , PHYH 99.94 0 , MYH14 99.95 0 , PIEZO2 99.95 0 , SYT2 99.95 0 , SPTLC2 99.95 0 , SOX10 99.95 0 , B4GALNT1 99.95 0 , POLG 99.95 0 , KARS1 99.95 0 , IFRD1 99.96 0 , FGD4 99.96 0 , GJB1 99.96 0 , REEP1 99.96 0 , GAN 99.96 0 , VCP 99.97 0 , INF2 99.97 0 , HSPB1 99.97 0 , DRP2 99.97 0 , NTRK1 99.97 0 , DNM2 99.97 0 , PIGB 99.97 0 , PRPS1 99.97 0 , SCN11A 99.97 0 , KIF1B 99.97 0 , HARS1 99.97 0 , FBLN5 99.97 0 , ABCD1 99.97 0 , KIF1A 99.97 0 , CD59 99.98 0 , CNTNAP1 99.98 0 , SBF1 99.98 0 , SPTLC1 99.98 0 , AARS1 99.98 0 , PMP2 99.98 0 , ADPRS 99.98 0 , MPZ 99.98 0 , TFG 99.98 0 , BICD2 99.98 0 , PEX1 99.98 0 , GARS1 99.98 0 , TECPR2 99.98 0 , POLR3B 99.98 0 , ATP1A1 99.98 0 , BSCL2 99.98 0 , CLTCL1 99.98 0 , MME 99.99 0 , SCN10A 99.99 0 , SLC25A46 99.99 0 , HADHB 99.99 0 , CCT5 99.99 0 , HK1 99.99 0 , KIF5A 99.99 0 , CADM3 99.99 0 , ATL3 99.99 0 , MTMR2 99.99 0 , SPG11 99.99 0 , SETX 99.99 0 , SBF2 99.99 0 , SCN9A 99.99 0 , SLC52A3 99.99 0 , ARHGEF10 99.99 0 , AIFM1 99.99 0 , MORC2 99.99 0 , DHTKD1 99.99 0 , HEXA 99.99 0 , MARS1 99.99 0 , SLC12A6 99.99 0 , ATL1 99.99 0 , COX6A1 99.99 0 , WARS1 99.99 0 , PDXK 99.99 0 , BAG3 99.99 0 , HSPB3 99.99 0 , MED25 99.99 0 , ELP1 99.99 0 , EGR2 99.99 0 , TUBB3 99.99 0 , HNRNPA1 99.99 0 , FBXO38 99.99 0 , YARS1 99.99 0 , SPTAN1 99.99 0 , ATP7A 99.99 0 , VRK1 99.99 0 , SCP2 99.99 0 , MFN2 99.99 0 , DNAJB2 99.99 0 , TTR 99.99 0 , TDP1 99.99 0 , LMNA 99.99 0 , DYNC1H1 99.99 0 , CFAP276 99.99 0 , GNB4 99.99 0 , TWNK 99.99 0 , SGPL1 99.99 0 , HADHA 99.99 0 , MCM3AP 99.99 0 , COA7 99.99 0 , CYP27A1 100.00 0 , GBF1 100.00 0 , SLC5A7 100.00 0 , LRSAM1 100.00 0 , SPTLC3 100.00 0 , DCAF8 100.00 0 , FIG4 100.00 0 , DST 100.00 0 , DCTN1 100.00 0 , TRIM2 100.00 0 , TRPV4 100.00 0 , WNK1 100.00 0 , TBCK 100.00 0 , PPOX 100.00 0 , OPA1 100.00 0 , ZFHX2 100.00 0 , SH3TC2 100.00 0 , IGHMBP2 100.00 0 , DCTN2 100.00 0 , GDAP1 100.00 0 , GJB3 100.00 0 , GLA 100.00 0 , HEXB 100.00 0 , HINT1 100.00 0 , HMBS 100.00 0 , HOXD10 100.00 0 , HSPB8 100.00 0 , LITAF 100.00 0 , MPV17 100.00 0 , MTRFR 100.00 0 , NGF 100.00 0 , OPA3 100.00 0 , PLD3 100.00 0 , PMP22 100.00 0 , PNKP 100.00 0 , PTRH2 100.00 0 , RAB7A 100.00 0 , SCO2 100.00 0 , SIGMAR1 100.00 0 , SLC52A2 100.00 0 , VAPB 100.00 0 , -
Neuropathy (148 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 1 NM_001605.3 ABHD12 100.00 1 NM_001042472.3 AIFM1 100.00 1 NM_004208.4 APTX 100.00 1 NM_001195248.2 ARHGEF10 100.00 1 NM_014629.4 ATL1 100.00 1 NM_015915.5 ATP1A1 100.00 1 NM_000701.8 ATP7A 100.00 1 NM_000052.7 BICD2 100.00 1 NM_001003800.2 BSCL2 100.00 1 NM_001122955.3 MTRFR 100.00 1 NM_152269.5 COX6A1 100.00 1 NM_004373.4 CTDP1 100.00 1 NM_004715.5 DCTN1 100.00 1 NM_004082.4 DHTKD1 100.00 1 NM_018706.7 DNAJB2 100.00 1 NM_006736.6 DNM2 100.00 1 NM_001005361.3 DNMT1 99.93 1 NM_001130823.3 DST 100.00 1 NM_001144770.2 DYNC1H1 100.00 1 NM_001376.5 EGR2 100.00 1 NM_000399.5 ELP1 100.00 1 NM_003640.5 FBLN5 100.00 1 NM_006329.3 FBXO38 100.00 1 NM_205836.3 FGD4 100.00 1 NM_001304480.1 FIG4 100.00 1 NM_014845.6 GAN 100.00 1 NM_022041.3 GARS1 100.00 1 NM_002047.4 GDAP1 100.00 1 NM_018972.4 GJB1 100.00 1 NM_000166.6 GJB3 100.00 1 NM_024009.3 GNB4 100.00 1 NM_021629.4 HARS1 100.00 1 NM_002109.6 HINT1 100.00 1 NM_005340.7 HK1 100.00 1 NM_001358263.1 HOXD10 100.00 1 NM_002148.4 HSPB1 100.00 1 NM_001540.5 HSPB3 100.00 1 NM_006308.3 HSPB8 100.00 1 NM_014365.3 IFRD1 100.00 1 NM_001007245.2 IGHMBP2 100.00 1 NM_002180.3 INF2 99.00 1 NM_022489.4 KARS1 100.00 1 NM_001130089.1 KIF1A 100.00 1 NM_001244008.1 KIF1B 100.00 1 NM_015074.3 KIF5A 100.00 1 NM_004984.4 LITAF 100.00 1 NM_001136472.1 LMNA 100.00 1 NM_170707.4 LRSAM1 100.00 1 NM_001005373.3 MARS1 100.00 1 NM_004990.4 MED25 100.00 1 NM_030973.3 MFN2 100.00 1 NM_014874.4 MME 100.00 1 NM_007289.4 MORC2 100.00 1 NM_001303256.3 MPZ 100.00 1 NM_000530.8 MTMR2 100.00 1 NM_016156.6 MYH14 100.00 1 NM_001145809.2 NAGLU 100.00 1 NM_000263.4 NDRG1 100.00 1 NM_006096.4 NEFH 100.00 1 NM_021076.4 NEFL 100.00 1 NM_006158.5 NGF 100.00 1 NM_002506.3 NTRK1 100.00 1 NM_002529.3 PDK3 100.00 1 NM_001142386.3 PEX1 100.00 1 NM_000466.3 PEX7 100.00 1 NM_000288.4 PHYH 100.00 1 NM_006214.4 PLEKHG5 100.00 1 NM_001265592.1 PMP22 100.00 1 NM_000304.4 POLG 100.00 1 NM_001126131.2 PRDM12 98.36 1 NM_021619.3 PRPS1 100.00 1 NM_002764.4 PRX 100.00 1 NM_181882.3 RAB7A 100.00 1 NM_004637.6 REEP1 100.00 1 NM_001371279.1 RETREG1 100.00 1 NM_001034850.2 SBF1 100.00 1 NM_002972.4 SBF2 100.00 1 NM_030962.3 SCN11A 100.00 1 NM_001349253.2 SCN9A 100.00 1 NM_001365536.1 SCO2 100.00 1 NM_005138.3 SETX 100.00 1 NM_015046.7 SH3TC2 100.00 1 NM_024577.4 SLC12A6 100.00 1 NM_001365088.1 SLC5A7 100.00 1 NM_021815.5 SOX10 100.00 1 NM_006941.4 SPG11 100.00 1 NM_025137.4 SPTLC1 100.00 1 NM_006415.4 SPTLC2 100.00 1 NM_004863.3 TDP1 100.00 1 NM_018319.4 TECPR2 100.00 1 NM_014844.5 TFG 100.00 1 NM_006070.6 TRIM2 100.00 1 NM_015271.5 TRPV4 100.00 1 NM_021625.5 TTR 100.00 1 NM_000371.4 TUBB3 100.00 1 NM_006086.4 TYMP 100.00 1 NM_001257989.1 VCP 100.00 1 NM_007126.5 WNK1 100.00 1 NM_018979.4 YARS1 100.00 1 NM_003680.3 AAAS 100.00 1 NM_015665.6 ALS2 100.00 1 NM_020919.4 ANG 100.00 1 NM_001145.4 ANXA11 100.00 1 NM_145868.2 ATL3 100.00 1 NM_015459.5 CNTNAP1 100.00 1 NM_003632.3 COA8 100.00 1 NM_001370595.1 COL4A1 100.00 1 NM_001845.6 DCAF8 100.00 1 NM_015726.4 DCX 100.00 1 NM_001195553.2 ERBB4 100.00 1 NM_005235.3 FUS 100.00 1 NM_004960.4 GBF1 100.00 1 NM_004193.3 GCH1 100.00 1 NM_000161.3 GLA 100.00 1 NM_000169.3 HTRA1 100.00 1 NM_002775.5 KLC2 100.00 1 NM_001134775.1 MATR3 100.00 1 NM_018834.6 MCM3AP 100.00 1 NM_003906.5 MPV17 100.00 1 NM_002437.5 NEK1 100.00 1 NM_001199397.3 NFASC 100.00 1 NM_001005388.2 OPTN 100.00 1 NM_001008212.2 PDXK 100.00 1 NM_003681.5 PFN1 100.00 1 NM_005022.4 PMP2 100.00 1 NM_002677.5 PNKP 100.00 1 NM_007254.4 PRPH 100.00 1 NM_006262.4 PTRH2 100.00 1 NM_016077.5 SCN10A 100.00 1 NM_006514.3 SEPTIN9 100.00 1 NM_001113491.2 SGPL1 100.00 1 NM_003901.4 SIGMAR1 100.00 1 NM_005866.4 SLC25A46 100.00 1 NM_138773.4 SMN1 6.96 1 NM_000344.3 SOD1 100.00 1 NM_000454.5 SORD 94.98 1 NM_003104.6 SQSTM1 100.00 1 NM_003900.5 SURF1 100.00 1 NM_003172.4 SYT2 100.00 1 NM_177402.5 TARDBP 100.00 1 NM_007375.4 TIA1 100.00 1 NM_022173.4 TRPA1 100.00 1 NM_007332.3 TUBA1A 100.00 1 NM_006009.4 TUBA4A 100.00 1 NM_006000.3 UBQLN2 100.00 1 NM_013444.3 VAPB 100.00 1 NM_004738.5 WARS1 100.00 1 NM_004184.4