- Diseases
- ATTRV30M amyloidosis
ATTRV30M amyloidosis
Name: |
ATTRV30M amyloidosis
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Description: |
A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (<50 years or >50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy.
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ORPHAcode: |
85447
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Synonyms: |
ATTRV30M-related amyloidosis
Familial amyloid polyneuropathy type I
Familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type
TTR amyloid neuropathy
Transthyretin amyloid neuropathy
Transthyretin amyloid polyneuropathy
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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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- Amyloidosis (TTR full sanger exon sequencing)
- Amyloidosis (full sanger screening of the 4 exons for TTR)
- Amyloidosis hereditary / Dystransthyretinemic hyperthyroxinemia
- Cardiomyopathy, hereditary (gene panel)
- Cardiopathies, hereditary (gene panel)
- Charcot-Marie-Tooth (other than type 1A) (gene panel, IPN panel)
- Neuropathy (gene panel)
- Transthyretine amyloïdose
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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 , -
Cardiomyopathy, hereditary (208 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 100.00 0 No comment ACAD9 100.00 0 No comment ACADVL 98.89 0 No comment ACE 97.11 0 No comment ACTA1 100.00 0 No comment ACTC1 100.00 0 No comment ACTN2 100.00 0 No comment ADD3 100.00 0 No comment ADRB2 100.00 0 No comment AGXT 100.00 0 No comment AGTR1 100.00 0 No comment AKAP9 100.00 0 No comment ALPK3 98.02 0 No comment ANKRD1 100.00 0 No comment APOA1 99.97 0 No comment B2M 100.00 0 No comment BAG3 100.00 0 No comment BRAF 96.97 0 No comment CACNA1C 100.00 0 No comment CACNB2 100.00 0 No comment CALM1 100.00 0 No comment CALM2 100.00 0 No comment CALM3 99.99 0 No comment CALR3 100.00 0 No comment CASQ2 100.00 0 No comment CASZ1 95.56 0 No comment CAV3 100.00 0 No comment CAVIN4 100.00 0 No comment CBL 100.00 0 No comment CDH2 97.48 0 No comment CHRM2 100.00 0 No comment CMYA5 99.99 0 No comment CNBP 100.00 0 No comment COA5 100.00 0 No comment COA6 100.00 0 No comment COX10 100.00 0 No comment COX15 100.00 0 No comment CRYAB 100.00 0 No comment CSRP3 100.00 0 No comment CTF1 30.96 0 No comment CTNNA3 100.00 0 No comment DES 100.00 0 No comment DLG1 100.00 0 No comment DMD 100.00 0 No comment DNAJC19 100.00 0 No comment DNM1L 100.00 0 No comment DOLK 100.00 0 No comment DSC3 98.44 0 No comment DSG2 99.61 0 No comment DSP 100.00 0 No comment DTNA 100.00 0 No comment ECRG4 99.32 0 No comment ELAC2 99.99 0 No comment ELN 100.00 0 No comment EMD 99.84 0 No comment EYA4 100.00 0 No comment FBXO32 100.00 0 No comment CFH 100.00 0 No comment FHL2 100.00 0 No comment FHOD3 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNC 100.00 0 No comment FLT1 99.53 0 No comment FOXD4 100.00 0 No comment FXN 89.89 0 No comment GAA 100.00 0 No comment GATA4 80.69 0 No comment GATA5 97.28 0 No comment GATA6 81.11 0 No comment GATAD1 88.18 0 No comment GLA 100.00 0 No comment GTPBP3 100.00 0 No comment HACD1 95.46 0 No comment HADHB 100.00 0 No comment HAND1 100.00 0 No comment HCN4 92.35 0 No comment HIF1A 100.00 0 No comment HRAS 100.00 0 No comment HSPB6 99.65 0 No comment HSPB7 100.00 0 No comment ILK 100.00 0 No comment INS-IGF2 99.94 0 No comment ISL1 100.00 0 No comment JPH2 95.10 0 No comment JUP 100.00 0 No comment KARS1 100.00 0 No comment KAT2B 94.80 0 No comment KCND2 100.00 0 No comment KCNE1 100.00 0 No comment KCNH2 94.44 0 No comment KCNJ12 100.00 0 No comment KCNQ1 91.07 0 No comment KIF20A 100.00 0 No comment KLF10 100.00 0 No comment LAMA2 100.00 0 No comment LAMA4 100.00 0 No comment LAMP2 100.00 0 No comment LDB3 100.00 0 No comment LMNA 99.93 0 No comment LRRC10 100.00 0 No comment MAP2K1 100.00 0 No comment MAP2K2 99.98 0 No comment MIB1 100.00 0 No comment MIB2 99.31 0 No comment MRPL3 100.00 0 No comment MRPL44 100.00 0 No comment MTO1 95.75 0 No comment MYBPC3 100.00 0 No comment MYH15 100.00 0 No comment MYH6 100.00 0 No comment MYH7 100.00 0 No comment MYH7B 99.96 0 No comment MYL2 100.00 0 No comment MYL3 100.00 0 No comment MYLK2 100.00 0 No comment MYO6 100.00 0 No comment MYOM1 100.00 0 No comment MYOM3 100.00 0 No comment MYOZ1 100.00 0 No comment MYOZ2 100.00 0 No comment MYPN 100.00 0 No comment NAA10 96.03 0 No comment NCOA6 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFV2 100.00 0 No comment NEB 99.99 0 No comment NEBL 100.00 0 No comment NEXN 100.00 0 No comment NKX2-5 100.00 0 No comment NPPA 100.00 0 No comment NRAP 100.00 0 No comment OBSCN 99.26 0 No comment OBSL1 98.31 0 No comment MED12 100.00 0 No comment PDLIM3 100.00 0 No comment PKP2 99.87 0 No comment PLEC 99.82 0 No comment PLEKHM2 99.60 0 No comment PLN 100.00 0 No comment PPCS 100.00 0 No comment PRDM16 100.00 0 No comment PRKAG2 95.88 0 No comment PRNP 100.00 0 No comment PSEN1 100.00 0 No comment PSEN2 100.00 0 No comment PTEN 98.86 0 No comment PTPN11 98.80 0 No comment RAF1 100.00 0 No comment RANGRF 100.00 0 No comment RBM20 99.82 0 No comment RIT1 100.00 0 No comment RPSA 97.87 0 No comment RRAGC 99.99 0 No comment RTKN2 100.00 0 No comment RYR2 100.00 0 No comment S100A1 100.00 0 No comment SCN4B 100.00 0 No comment SCN5A 100.00 0 No comment SDHA 98.02 0 No comment SGCB 94.58 0 No comment SGCD 100.00 0 No comment SGCG 100.00 0 No comment SGK1 99.99 0 No comment SHOC2 100.00 0 No comment SLC12A1 100.00 0 No comment SLC22A5 100.00 0 No comment SLC25A3 100.00 0 No comment SLC25A4 99.09 0 No comment SMC1A 100.00 0 No comment SNTA1 84.25 0 No comment SOD2 100.00 0 No comment SOS1 100.00 0 No comment SYNE1 100.00 0 No comment SYNE2 100.00 0 No comment SYNM 92.59 0 No comment TAF1A 100.00 0 No comment TAX1BP3 100.00 0 No comment WWTR1 99.81 0 No comment TBX20 100.00 0 No comment TBX5 100.00 0 No comment TCAP 100.00 0 No comment TCF21 100.00 0 No comment TGFB3 100.00 0 No comment TJP1 99.14 0 No comment TK2 95.90 0 No comment TMED4 100.00 0 No comment TMEM43 100.00 0 No comment TMEM87B 99.37 0 No comment TMPO 99.87 0 No comment TNNI3 100.00 0 No comment TNNI3K 100.00 0 No comment TNNT2 100.00 0 No comment TNNT3 100.00 0 No comment TPM1 99.98 0 No comment TRIM54 99.66 0 No comment TRIM55 100.00 0 No comment TRIM63 100.00 0 No comment TRPM4 100.00 0 No comment TSFM 93.22 0 No comment TTN 100.00 0 No comment TTR 100.00 0 No comment TXNRD2 96.90 0 No comment VCL 100.00 0 No comment VEGFA 98.73 0 No comment YWHAE 98.69 0 No comment ZBTB17 100.00 0 No comment -
Cardiopathies, hereditary (102 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 95.00 0 NM_005691.4 / interpretable range CS1>95% ACTC1 95.00 0 NM_005159.5 / interpretable range CS1>95% ACTN2 95.00 0 NM_001103.4 / nterpretable range CS1>95% AKAP9 95.00 0 NM_005751.5 /interpretable range CS1>95% ANK2 95.00 0 NM_001148.6 / interpretable range CS1>95% ANKRD1 95.00 0 NM_014391.3 / interpretable range CS1>95% BAG3 95.00 0 NM_004281.4 / interpretable range CS1>95% CACNA1C 95.00 0 NM_000719.7 / interpretable range CS1>95% CACNA1D 95.00 0 NM_000720.4 / interpretable range CS1>95% CACNA2D1 95.00 0 NM_000722.4 / interpretable range CS1>95% CACNB2 95.00 0 NM_201590.3 / interpretable range CS1>95% CALM1 95.00 0 NM_006888.6 / interpretable range CS1>95% CALM2 95.00 0 NM_001743.6 / interpretable range CS1>95% CALM3 95.00 0 NM_005184.4 / interpretable range CS1>95% CALR3 95.00 0 NM_145046.5 / interpretable range CS1>95% CASQ2 95.00 0 NM_001232.4 / interpretable range CS1>95% CAV3 95.00 0 NM_033337.3 / interpretable range CS1>95% CDH2 95.00 0 NM_001792.5 / interpretable range CS1>95% CRYAB 95.00 0 NM_001885.3 / interpretable range CS1>95% CSRP3 95.00 0 NM_003476.5 / interpretable range CS1>95% CTNNA3 95.00 0 NM_013266.4 / interpretable range CS1>95% DES 95.00 0 NM_001927.4 / interpretable range CS1>95% DSC3 95.00 0 NM_024422.6 / interpretable range CS1>95% DSG2 95.00 0 NM_001943.5 / interpretable range CS1>95% DSP 95.00 0 NM_004415.4 / interpretable range CS1>95% DTNA 95.00 0 NM_001390.4 / interpretable range CS1>95% CFH 95.00 0 NM_001449.5 / interpretable range CS1>95% FHOD3 95.00 0 NM_025135.5 / interpretable range CS1>95% FKTN 95.00 0 NM_001079802.2 / interpretable range CS1>95% FLNC 95.00 0 NM_001458.5 / interpretable range CS1>95% GJA5 95.00 0 NM_005266.7 / interpretable range CS1>95% GLA 95.00 0 NM_000169.3 / interpretable range CS1>95% GPD1L 95.00 0 NM_015141.4 / interpretable range CS1>95% HCN4 95.00 0 NM_005477.3 / interpretable range CS1>95% JPH2 95.00 0 NM_020433.5 / interpretable range CS1>95% JUP 95.00 0 NM_002230.4 / interpretable range CS1>95% KCNA5 95.00 0 NM_002234.4 / interpretable range CS1>95% KCND2 95.00 0 NM_012281.3 / interpretable range CS1>95% KCND3 95.00 0 NM_004980.5 / interpretable range CS1>95% KCNE1 95.00 0 NM_000219.6 / interpretable range CS1>95% KCNE2 95.00 0 NM_172201.2 / interpretable range CS1>95% KCNE3 95.00 0 NM_005472.5 / interpretable range CS1>95% KCNE5 95.00 0 NM_012282.4 / interpretable range CS1>95% KCNH2 95.00 0 NM_000238.4 / interpretable range CS1>95% KCNJ2 95.00 0 NM_000891.3 / interpretable range CS1>95% KCNJ5 95.00 0 NM_000890.5 / interpretable range CS1>95% KCNJ8 95.00 0 NM_004982.4 / interpretable range CS1>95% KCNQ1 95.00 0 NM_000218.3 / interpretable range CS1>95% LAMA4 95.00 0 NM_002290.5 / interpretable range CS1>95% LAMP2 95.00 0 NM_002294.3 / interpretable range CS1>95% LDB3 95.00 0 NM_001080116.1 / interpretable range CS1>95% LMNA 95.00 0 NM_170707.4 / interpretable range CS1>95% MIB1 95.00 0 NM_020774.4 / interpretable range CS1>95% MYBPC3 95.00 0 NM_000256.3 / interpretable range CS1>95% / MLPA only in de frame of "Familial hypertrophic cardiomyopathy" MYH6 95.00 0 NM_002471.4 / interpretable range CS1>95% MYH7 95.00 0 NM_000257.4 / interpretable range CS1>95% MYL2 95.00 0 NM_000432.4 / interpretable range CS1>95% MYL3 95.00 0 NM_000258.3 / interpretable range CS1>95% MYLK2 95.00 0 NM_033118.4 / interpretable range CS1>95% MYOZ2 95.00 0 NM_016599.5 / interpretable range CS1>95% MYPN 95.00 0 NM_032578.4 / interpretable range CS1>95% NEXN 95.00 0 NM_144573.4 / interpretable range CS1>95% NKX2-5 95.00 0 NM_004387.4 / interpretable range CS1>95% NOS1AP 95.00 0 NM_014697.3 / interpretable range CS1>95% NPPA 95.00 0 NM_006172.4 / interpretable range CS1>95% NUP155 95.00 0 NM_153485.3 / interpretable range CS1>95% PITX2 95.00 0 NM_153427.2 / interpretable range CS1>95% PKP2 95.00 0 NM_004572.4 / interpretable range CS1>95% PLN 95.00 0 NM_002667.5 / interpretable range CS1>95% PRKAG2 95.00 0 NM_016203.4 / interpretable range CS1>95% RBM20 95.00 0 NM_001134363.3 / interpretable range CS1>95% RYR2 95.00 0 NM_001035.3 / interpretable range CS1>95% SLC4A3 95.00 0 NM_201574.2 / interpretable range CS1>95% SCN10A 95.00 0 NM_006514.4 / interpretable range CS1>95% SCN1B 95.00 0 NM_001037.5 / interpretable range CS1>95% SCN2B 95.00 0 NM_004588.5 / interpretable range CS1>95% SCN3B 95.00 0 NM_018400.4 / interpretable range CS1>95% SCN4B 95.00 0 NM_174934.4 / interpretable range CS1>95% SCN5A 95.00 0 NM_198056.3 / interpretable range CS1>95% SEMA3A 95.00 0 NM_006080.3 / interpretable range CS1>95% SGCD 95.00 0 NM_000337.6 / interpretable range CS1>95% SNTA1 95.00 0 NM_003098.3 / interpretable range CS1>95% WWTR1 95.00 0 NM_000116.5 / interpretable range CS1>95% TBX20 95.00 0 NM_001077653.2 / interpretable range CS1>95% TCAP 95.00 0 NM_003673.4 / interpretable range CS1>95% TECRL 95.00 0 NM_001010874.5 / interpretable range CS1>95% TGFB3 95.00 0 NM_003239.5 / interpretable range CS1>95% TJP1 95.00 0 NM_003257.5 / interpretable range CS1>95% TMEM43 95.00 0 NM_024334.3 / interpretable range CS1>95% TMPO 95.00 0 NM_003276.2 / interpretable range CS1>95% TNNI3 95.00 0 NM_000363.5 / interpretable range CS1>95% TNNI3K 95.00 0 NM_015978.3 / interpretable range CS1>95% TNNT2 95.00 0 NM_001001430.3 / interpretable range CS1>95% TPM1 95.00 0 NM_001018005.2 / interpretable range CS1>95% TRDN 95.00 0 NM_006073.4 / interpretable range CS1>95% TRIM63 95.00 0 NM_032588.4 / interpretable range CS1>95% TRPM4 95.00 0 NM_017636.4 / interpretable range CS1>95% TTN 95.00 0 NM_001267550.1 / interpretable range CS1>95% TTR 95.00 0 NM_000371.4 / interpretable range CS1>95% TXNRD2 95.00 0 NM_006440.5 / interpretable range CS1>95% VCL 95.00 0 NM_014000.3 / interpretable range CS1>95% -
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