Belgian Genetic Tests database- Diseases
- Fabry disease
Fabry disease
| Name: |
Fabry disease
|
| Description: |
A rare genetic, multisystemic lysosomal disease characterized by specific cutaneous (angiokeratoma), neurological (pain), renal (proteinuria, chronic kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular manifestations (transient ischemic attacks, strokes). The phenotypic expression depends on age of onset and, in females, the level of X-inactivation.
|
| ORPHAcode: |
324
|
| Synonyms: |
Alpha-galactosidase A deficiency
Anderson-Fabry disease
Angiokeratoma corporis diffusum
Diffuse angiokeratoma
FD
|
| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
|
| Changed: |
22 Jun 2023 - 16:14
|
- Cardiomyopathy, hereditary (gene panel)
- Cardiopathies, hereditary (gene panel)
- Charcot-Marie-Tooth (other than type 1A) (gene panel, IPN panel)
- Enzymatic dosage Fabry disease
- Fabry disease
- Fabry disease
- Hypertrophic cardiomyopathy (gene panel)
- Nephrotic syndrome, Focal Segmental Glomerulosclerosis (FSGS) , Alport syndrome and podocytopathy (gene panel)
-
Inherited Peripheral Neuropathies gene panel (139 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 0 NM_001605.2 ABCD1 100.00 0 NM_000033.3 ABHD12 98.00 0 NM_001042472.2 AGTPBP1 99.90 0 NM_001286715.1 AIFM1 100.00 0 NM_004208.3 APTX 99.00 0 NM_175073.2 ARHGEF10 100.00 0 NM_014629.3 ATL1 100.00 0 NM_015915.4 ATL3 100.00 0 NM_015459.4 ATP1A1 100.00 0 NM_000701.7 ATP7A 100.00 0 NM_000052.6 BAG3 100.00 0 NM_004281.3 BICD2 100.00 0 NM_001003800.1 BSCL2 100.00 0 NM_032667.6 MTRFR 100.00 0 NM_152269.4 CCT5 100.00 0 NM_012073.4 CD59 100.00 0 NM_203330.2 CNTNAP1 100.00 0 NM_003632.2 COA7 100.00 0 NM_023077.2 COX6A1 100.00 0 NM_004373.3 CTDP1 98.90 0 NM_004715.4 DCAF8 100.00 0 NM_015726.3 DCTN1 100.00 0 NM_004082.4 DGAT2 100.00 0 NM_032564.4 DHTKD1 99.90 0 NM_018706.6 DNAJB2 100.00 0 NM_001039550.1 DNM2 100.00 0 NM_001005360.2 DNMT1 99.50 0 NM_001130823.2 DRP2 100.00 0 NM_001939.2 DST 100.00 0 NM_001723.5 DYNC1H1 100.00 0 NM_001376.4 EGR2 100.00 0 NM_000399.4 ELP1 100.00 0 NM_003640.4 FBLN5 100.00 0 NM_006329.3 FBXO38 100.00 0 NM_030793.4 FGD4 100.00 0 NM_139241.3 FIG4 100.00 0 NM_014845.5 FLVCR1 100.00 0 NM_014053.3 GAN 100.00 0 NM_022041.3 GARS1 100.00 0 NM_002047.3 GDAP1 100.00 0 NM_018972.3 GJB1 100.00 0 NM_000166.5 GJB3 100.00 0 NM_024009.2 GLA 100.00 0 NM_000169.2 GNB4 100.00 0 NM_021629.3 HADHA 100.00 0 NM_000182.4 HADHB 100.00 0 NM_000183.2 HARS1 100.00 0 NM_002109.5 HINT1 100.00 0 NM_005340.6 HK1 100.00 0 NM_000188.2 HOXD10 100.00 0 NM_002148.3 HSPB1 99.00 0 NM_001540.4 HSPB3 100.00 0 NM_006308.2 HSPB8 100.00 0 NM_014365.2 IARS2 100.00 0 NM_018060.3 IFRD1 99.90 0 NM_001550.3 IGHMBP2 100.00 0 NM_002180.2 INF2 98.80 0 NM_022489.3 ITPR3 99.50 0 NM_002224.3 KARS1 100.00 0 NM_001130089.1 KIF1A 99.90 0 NM_004321.7 KIF1B 100.00 0 NM_015074.3 KIF5A 100.00 0 NM_004984.3 KLHL13 100.00 0 NM_033495.3 LITAF 100.00 0 NM_004862.3 LMNA 99.90 0 NM_170707.3 LRSAM1 100.00 0 NM_138361.5 MARS1 100.00 0 NM_004990.3 MCM3AP 100.00 0 NM_003906.4 MED25 100.00 0 NM_030973.3 MFN2 100.00 0 NM_014874.3 MME 100.00 0 NM_007289.3 MORC2 100.00 0 NM_001303256.2 MPV17 100.00 0 NM_002437.4 MPZ 100.00 0 NM_000530.7 MTMR2 100.00 0 NM_016156.5 MYH7B 99.80 0 NM_024729.3 NAGLU 99.70 0 NM_000263.3 NDRG1 100.00 0 NM_006096.3 NEFH 99.50 0 NM_021076.3 NEFL 99.60 0 NM_006158.4 NGF 100.00 0 NM_002506.2 NTRK1 100.00 0 NM_001012331.1 MED12 100.00 0 NM_015560.2 OPA3 100.00 0 NM_025136.3 PDK3 100.00 0 NM_001142386.2 PDXK 100.00 0 NM_003681.4 PEX1 100.00 0 NM_000466.2 PEX7 100.00 0 NM_000288.3 PHYH 100.00 0 NM_006214.3 PLEKHG5 99.80 0 NM_020631.4 PMP2 100.00 0 NM_002677.4 PMP22 100.00 0 NM_000304.3 PNKP 99.80 0 NM_007254.3 POLG 100.00 0 NM_002693.2 PRDM12 90.30 0 NM_021619.2 PRNP 100.00 0 NM_000311.4 PRPS1 100.00 0 NM_002764.3 PRX 100.00 0 NM_181882.2 RAB7A 100.00 0 NM_004637.5 REEP1 100.00 0 NM_022912.2 RETREG1 99.40 0 NM_001034850.2 SBF1 99.70 0 NM_002972.3 SBF2 100.00 0 NM_030962.3 SCN10A 100.00 0 NM_006514.3 SCN11A 99.80 0 NM_014139.2 SCN9A 100.00 0 NM_002977.3 SCO2 100.00 0 NM_005138.2 SCP2 100.00 0 NM_002979.4 SEPTIN9 99.20 0 NM_006640.4 SETX 100.00 0 NM_015046.6 SGPL1 100.00 0 NM_003901.3 SH3BP4 100.00 0 NM_014521.2 SH3TC2 100.00 0 NM_024577.3 SIGMAR1 100.00 0 NM_005866.3 SLC12A6 100.00 0 NM_133647.1 SLC25A46 100.00 0 NM_138773.3 SLC5A7 100.00 0 NM_021815.4 SORD 91.20 0 NM_003104.5 SOX10 100.00 0 NM_006941.3 SPG11 100.00 0 NM_025137.3 SPTLC1 100.00 0 NM_006415.3 SPTLC2 100.00 0 NM_004863.3 SURF1 99.00 0 NM_003172.3 TDP1 100.00 0 NM_018319.3 TECPR2 100.00 0 NM_014844.4 TFG 100.00 0 NM_006070.5 TRIM2 100.00 0 NM_001130067.1 TRPA1 100.00 0 NM_007332.2 TRPV4 99.90 0 NM_021625.4 TTR 100.00 0 NM_000371.3 TUBB3 100.00 0 NM_006086.3 TWNK 100.00 0 NM_021830.4 TYMP 100.00 0 NM_001953.4 VCP 99.90 0 NM_007126.4 VRK1 100.00 0 NM_003384.2 WARS1 99.80 0 NM_004184.3 WNK1 99.80 0 NM_018979.3 YARS1 100.00 0 NM_003680.3 -
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% -
Hypertrophic cardiomyopathy (75 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACTC1 100.00 1 NM_005159.5 ACTN2 100.00 1 NM_001103.3 ALPK3 100.00 1 NM_020778.5 CSRP3 100.00 1 NM_003476.5 GLA 100.00 1 NM_000169.3 JPH2 100.00 1 NM_020433.5 LAMP2 100.00 1 NM_002294.3 LMNA 100.00 1 NM_170707.4 MYBPC3 100.00 1 NM_000256.3 MYH6 100.00 1 NM_002471.3 MYH7 100.00 1 NM_000257.4 MYL2 100.00 1 NM_000432.4 MYL3 100.00 1 NM_000258.3 PLN 100.00 1 NM_002667.5 PRKAG2 100.00 1 NM_016203.4 TNNC1 100.00 1 NM_003280.3 TNNI3 100.00 1 NM_000363.5 TNNT2 100.00 1 NM_001276345.2 TPM1 100.00 1 NM_001018005.2 TTR 100.00 1 NM_000371.4 ACADVL 100.00 1 NM_000018.4 ACTA1 100.00 1 NM_001100.4 AGL 100.00 1 NM_000642.3 ANKRD1 100.00 1 NM_014391.2 ATAD3A 100.00 1 NM_001170535.3 ATP5F1E 100.00 1 NM_006886.4 BRAF 100.00 1 NM_001354609.2 CACNA1C 100.00 1 NM_000719.7 CALR3 100.00 1 NM_145046.5 CASQ2 100.00 1 NM_001232.3 CAV3 100.00 1 NM_033337.3 COA5 100.00 1 NM_001008215.3 CRYAB 100.00 1 NM_001289808.2 DES 100.00 1 NM_001927.4 FHL1 100.00 1 NM_001159699.2 FHOD3 100.00 1 NM_001281740.3 FLNC 100.00 1 NM_001458.4 FOXRED1 100.00 1 NM_017547.4 FXN 100.00 1 NM_000144.5 GAA 100.00 1 NM_000152.5 GLB1 100.00 1 NM_000404.4 GUSB 100.00 1 NM_000181.4 GYG1 100.00 1 NM_004130.4 HRAS 100.00 1 NM_005343.4 KCNQ1 100.00 1 NM_000218.3 KLF10 100.00 1 NM_005655.4 LDB3 100.00 1 NM_001171610.2 LZTR1 100.00 1 NM_006767.4 MAP2K1 100.00 1 NM_002755.4 MAP2K2 100.00 1 NM_030662.4 MIB1 100.00 1 NM_020774.3 MRPL3 100.00 1 NM_007208.4 MT-TI 100.00 1 MT-TL1 100.00 1 MYLK2 100.00 1 NM_033118.4 MYO6 100.00 1 NM_004999.4 MYOM1 100.00 1 NM_003803.4 MYOZ2 100.00 1 NM_016599.5 MYPN 100.00 1 NM_032578.3 NEXN 100.00 1 NM_144573.3 NRAS 100.00 1 NM_002524.5 PDLIM3 100.00 1 NM_014476.6 PTPN11 100.00 1 NM_002834.5 RAF1 100.00 1 NM_001354689.3 RYR2 100.00 1 NM_001035.3 SCO2 100.00 1 NM_005138.3 SLC25A3 100.00 1 NM_002635.4 SLC25A4 100.00 1 NM_001151.4 SOS1 100.00 1 NM_005633.3 TCAP 100.00 1 NM_003673.4 TMEM70 100.00 1 NM_017866.6 TRIM63 100.00 1 NM_032588.3 TSFM 100.00 1 NM_005726.6 TTN 100.00 1 NM_001267550.2 VCL 100.00 1 NM_014000.3 -
Nephrotic syndrome, FSGS, Alport syndrome (76 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACTN4 100.00 1 NM_004924.6 AMN 100.00 1 NM_030943.4 ANLN 100.00 1 NM_018685.5 APOA1 100.00 1 NM_000039.3 APOL1 100.00 1 NM_003661.4 ARHGAP24 100.00 1 NM_001025616.3 ARHGDIA 100.00 1 NM_004309.6 AVIL 100.00 1 NM_006576.4 B2M 100.00 1 NM_004048.4 C3 100.00 1 NM_000064.4 CD151 100.00 1 NM_004357.5 CD2AP 100.00 1 NM_012120.3 CLCN5 100.00 1 NM_001127898.4 COL4A3 100.00 1 NM_000091.5 COL4A4 100.00 1 NM_000092.5 COL4A5 100.00 1 NM_033380.3 COL4A6 100.00 1 NM_033641.4 COQ2 100.00 1 NM_001358921.2 COQ6 100.00 1 NM_182476.3 COQ8A 100.00 1 NM_020247.5 COQ8B 100.00 1 NM_024876.4 CRB2 100.00 1 NM_173689.7 CUBN 100.00 1 NM_001081.4 DGKE 100.00 1 NM_003647.3 EMP2 100.00 1 NM_001424.6 FGA 100.00 1 NM_021871.4 FN1 100.00 1 NM_212482.4 G6PC1 100.00 1 NM_000151.4 GLA 100.00 1 NM_000169.3 GSN 100.00 1 NM_198252.3 INF2 100.00 1 NM_022489.4 KANK2 100.00 1 NM_001136191.3 LAMB2 100.00 1 NM_002292.4 LMX1B 100.00 1 NM_001174147.2 LRP2 100.00 1 NM_004525.3 LYZ 100.00 1 NM_000239.3 MAGI2 100.00 1 NM_012301.4 MYH9 100.00 1 NM_002473.6 MYO1E 100.00 1 NM_004998.4 NPHS1 100.00 1 NM_004646.4 NPHS2 100.00 1 NM_014625.4 NUP107 100.00 1 NM_020401.4 NUP133 100.00 1 NM_018230.3 NUP160 100.00 1 NM_015231.3 NUP205 100.00 1 NM_015135.3 NUP85 100.00 1 NM_024844.5 NUP93 100.00 1 NM_014669.5 OCRL 100.00 1 NM_000276.4 PAX2 100.00 1 NM_000278.5 PDSS2 100.00 1 NM_020381.4 PLCE1 100.00 1 NM_016341.4 PMM2 0.00 1 NM_000303.2 / only position Chr16(GRCh38):g.8797616 87976 PTPRO 100.00 1 NM_030667.3 SGPL1 100.00 1 NM_003901.4 SLC35A1 100.00 1 NM_006416.5 TBC1D8B 100.00 1 NM_017752.3 TRPC6 100.00 1 NM_004621.6 TTC21B 100.00 1 NM_024753.5 TTR 100.00 1 NM_000371.4 UMOD 100.00 1 NM_003361.4 WDR73 100.00 1 NM_032856.5 WT1 100.00 1 NM_024426.6 GON7 100.00 1 NM_032490.5 ITGA3 100.00 1 NM_002204.4 KIRREL1 100.00 1 NM_018240.7 LAGE3 100.00 1 NM_006014.5 LAMA5 100.00 1 NM_005560.6 NOS1AP 100.00 1 NM_014697.3 OSGEP 100.00 1 NM_017807.4 PODXL 94.00 1 NM_001018111.3 SARS2 100.00 1 NM_017827.4 SMARCAL1 100.00 1 NM_014140.4 TP53RK 100.00 1 NM_033550.4 TPRKB 100.00 1 NM_016058.5 WDR4 100.00 1 NM_018669.6 XPO5 100.00 1 NM_020750.3 YRDC 100.00 1 NM_024640.4