- Analytes
- OPTN
OPTN
Name: |
optineurin
|
Symbol: |
OPTN
|
Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
FIP-2
FIP2
HIP7
HYPL
NRP
TFIIIA-INTP
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
|
- Amyotrophic Lateral Sclerosis (ALS) (gene panel)
- Dementia, young onset (gene panel)
- Glaucoma (gene panel)
- Hereditary spastic paraplegia (gene panel - 249 genes)
- Myopathy (gene panel)
- Neurodegeneration (gene panel)
- Neuromuscular disorders (548 genes)
- Neuromuscular disorders : congenital & distal myopathy, congenital muscle dystrophy / Limb-girdle muscular dystrophy / Rhabdomyolysis / Myopathy (with prominent contractures) / distal artrogryposis (gene panel)
- Neuropathy (gene panel)
-
Amyotrophic Lateral Sclerosis (ALS) - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ALS2 99.87 1 ANG 100.00 1 ANXA11 99.71 1 CCNF 99.99 1 CHCHD10 100.00 1 CHMP2B 99.80 1 DCTN1 99.98 1 ERBB4 99.92 1 FIG4 99.83 1 FUS 99.93 1 GRN 100.00 1 HNRNPA1 62.92 1 HNRNPA2B1 99.90 1 KIF5A 99.91 1 MATR3 99.86 1 NEFH 100.00 1 NEK1 99.83 1 OPTN 99.98 1 PFN1 74.59 1 SETX 99.97 1 SIGMAR1 99.99 1 SLC52A1 100.00 1 SLC52A2 100.00 1 SLC52A3 99.94 1 SOD1 99.97 1 SPG11 99.89 1 SQSTM1 100.00 1 TAF15 99.91 1 TARDBP 100.00 1 TBK1 99.07 1 TUBA4A 100.00 1 UBQLN2 100.00 1 UNC13A 99.99 1 VAPB 100.00 1 VCP 99.99 1 LYST 99.87 1 GLE1 99.99 -2 SORD 85.52 -2 SPTLC1 99.74 -2 -
Dementia, young onset (gene panel)
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APOE 100.00 1 APP 100.00 1 CHCHD10 100.00 1 CHMP2B 100.00 1 CSF1R 100.00 1 FUS 100.00 1 GRN 100.00 1 HTRA1 95.00 1 ITM2B 100.00 1 MAPT 100.00 1 NOTCH3 98.00 1 OPTN 100.00 1 PRNP 100.00 1 PSEN1 100.00 1 PSEN2 100.00 1 TARDBP 100.00 1 TBK1 100.00 1 TREM2 100.00 1 TYROBP 100.00 1 UBQLN2 100.00 1 VCP 100.00 1 -
Glaucoma - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADAMTS10 99.99 1 ADAMTS17 99.99 1 B3GLCT 99.90 1 BEST1 99.86 1 COL18A1 99.99 1 COL4A1 99.99 1 CPAMD8 99.97 1 CREBBP 99.97 1 CYP1B1 100.00 1 RIGI 99.84 1 FBN1 99.85 1 FOXC1 100.00 1 FOXD3 99.85 1 FOXE3 99.29 1 GJA1 100.00 1 IFIH1 99.84 1 LMX1B 100.00 1 LTBP2 99.97 1 MYOC 99.98 1 NTF4 100.00 1 OCRL 99.89 1 OPTN 99.98 1 PAX6 99.95 1 PITX2 99.98 1 PITX3 100.00 1 SBF2 99.77 1 SH3PXD2B 100.00 1 TBK1 99.07 1 TEK 99.98 1 WDR36 99.46 1 ASB1 99.98 1 -
Hereditary spastic paraplegia (188 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCD1 97.56 1 ABHD12 88.30 1 ADAR 100.00 1 AFG3L2 94.80 1 AIMP1 99.97 1 ALDH18A1 100.00 1 ALDH3A2 99.94 1 ALS2 100.00 1 AMPD2 99.90 1 ANG 100.00 1 AP4B1 100.00 1 AP4E1 99.99 1 AP4M1 100.00 1 AP4S1 100.00 1 AP5Z1 99.25 1 ARG1 100.00 1 ARL6IP1 100.00 1 ARSI 99.82 1 ASPA 100.00 1 ATAD3A 97.50 1 ATL1 99.89 1 ATP13A2 98.30 1 AUH 99.24 1 B4GALNT1 99.99 1 BICD2 100.00 1 BSCL2 100.00 1 BTD 100.00 1 MTRFR 100.00 1 C19ORF12 100.00 1 CAPN1 99.97 1 CCT5 99.92 1 CDK16 99.96 1 CLN8 100.00 1 COASY 100.00 1 CPT1C 100.00 1 CSF1R 99.99 1 CTNNB1 100.00 1 CYP27A1 99.38 1 CYP2U1 93.20 1 CYP7B1 100.00 1 DARS1 100.00 1 DARS2 100.00 1 DDHD1 99.58 1 DDHD2 100.00 1 DSTYK 100.00 1 ELOVL4 100.00 1 ENTPD1 100.00 1 ERCC2 98.91 1 ERLIN1 100.00 1 ERLIN2 100.00 1 EXOSC3 100.00 1 FA2H 95.71 1 HYCC1 100.00 1 RETREG1 100.00 1 FARS2 100.00 1 FBXO7 99.78 1 FIG4 100.00 1 FLRT1 100.00 1 FRMD7 99.98 1 FUS 100.00 1 FXN 100.00 1 GAD1 100.00 1 GALC 98.98 1 GAN 98.52 1 GARS1 97.89 1 GART 99.99 1 GBA1 100.00 1 GBA2 100.00 1 GBE1 100.00 1 GCH1 99.71 1 GFAP 100.00 1 GJA1 100.00 1 GJC2 96.72 1 GLB1 100.00 1 GLRX5 100.00 1 GLTP 100.00 1 GPR143 89.09 1 GSN 97.80 1 HACE1 98.41 1 HEPACAM 99.85 1 HEXA 100.00 1 HSD17B4 100.00 1 HSPD1 100.00 1 IBA57 92.01 1 IFIH1 100.00 1 IRF2BPL 97.56 1 KCNJ6 100.00 1 KCNMA1 99.93 1 KDM5C 99.97 1 WASHC5 100.00 1 NEXMIF 100.00 1 KIDINS220 100.00 1 KIF1A 98.74 1 KIF1C 100.00 1 KIF5A 100.00 1 KLC2 100.00 1 KLC4 99.99 1 L1CAM 99.98 1 L2HGDH 99.75 1 LAMB1 100.00 1 LYST 100.00 1 MARS1 100.00 1 MARS2 100.00 1 MFN2 100.00 1 MLC1 98.57 1 MTPAP 99.98 1 NANS 100.00 1 NEFL 100.00 1 NIPA1 92.99 1 NKX6-2 100.00 1 NT5C2 100.00 1 OCLN 100.00 1 MED12 99.98 1 OPA3 100.00 1 OPTN 100.00 1 PANK2 100.00 1 PDYN 100.00 1 PGAP1 100.00 1 PLA2G6 100.00 1 PLP1 100.00 1 PNPLA6 99.95 1 POLR3A 100.00 1 POLR3B 100.00 1 PPP2R2B 100.00 1 PRUNE1 100.00 1 PSEN1 100.00 1 PUM1 100.00 1 RAB18 99.99 1 RAB3GAP1 100.00 1 RAB3GAP2 100.00 1 RARS1 99.99 1 REEP1 100.00 1 REEP2 97.04 1 RNASEH2A 100.00 1 RNASEH2B 94.58 1 RNASEH2C 100.00 1 RNASET2 100.00 1 RTN2 99.44 1 SACS 99.95 1 SAMD9L 100.00 1 SAMHD1 100.00 1 SERAC1 100.00 1 SETX 100.00 1 SIL1 99.95 1 SLC16A2 99.97 1 SLC25A15 100.00 1 SLC25A46 100.00 1 SLC2A1 100.00 1 SLC33A1 100.00 1 SLC39A14 99.94 1 SMPD1 100.00 1 SOD1 100.00 1 SOX10 100.00 1 SPAST 99.83 1 SPG11 100.00 1 SPART 100.00 1 SPG21 100.00 1 SPG7 95.78 1 SPR 99.98 1 SUN1 100.00 1 SYNE1 100.00 1 TANGO2 99.94 1 TARDBP 99.43 1 TBC1D20 95.06 1 TECPR2 99.92 1 TFG 99.98 1 TGM6 100.00 1 TH 98.79 1 TRPV4 100.00 1 TTBK2 100.00 1 TUBB4A 100.00 1 TUBG1 100.00 1 UBQLN2 99.30 1 UCHL1 99.66 1 USP8 100.00 1 VAMP1 100.00 1 VAPB 99.77 1 VCP 97.10 1 VPS13B 100.00 1 VPS37A 99.28 1 WDR45 100.00 1 WDR45B 99.94 1 WDR48 100.00 1 ZC4H2 100.00 1 ZFR 100.00 1 ZFYVE26 100.00 1 ZFYVE27 100.00 1 -
Myopathy (332 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 1 NM_001605.3 ABHD5 100.00 1 NM_016006.6 ACAD9 100.00 1 NM_014049.5 ACADM 100.00 1 NM_000016.6 ACADVL 100.00 1 NM_000018.4 ACTA1 100.00 1 NM_001100.4 ACVR1 100.00 1 NM_001111067.4 ADSS1 100.00 1 NM_199165.2 AGK 100.00 1 NM_018238.4 AGL 100.00 1 NM_000642.3 AGRN 100.00 1 NM_198576.4 AIFM1 100.00 1 NM_004208.4 ALDOA 100.00 1 NM_184041.4 ALG13 98.00 1 NM_001099922.3 ALG14 100.00 1 NM_144988.4 ALG2 100.00 1 NM_033087.4 ALS2 100.00 1 NM_020919.4 AMPD1 100.00 1 NM_000036.2 ANG 100.00 1 NM_001145.4 ANO5 100.00 1 NM_213599.3 AR 100.00 1 NM_000044.6 ASAH1 100.00 1 NM_177924.5 ASCC1 100.00 1 NM_001198800.3 ATP2A1 100.00 1 NM_004320.6 ATP7A 100.00 1 NM_000052.7 ATXN2 100.00 1 NM_001372574.1 B3GALNT2 100.00 1 NM_152490.5 B4GAT1 100.00 1 NM_006876.3 BAG3 100.00 1 NM_004281.4 BCS1L 100.00 1 NM_001079866.2 BICD2 100.00 1 NM_001003800.2 BIN1 100.00 1 NM_139343.3 BSCL2 100.00 1 NM_001122955.3 BVES 100.00 1 NM_001199563.2 C1QBP 100.00 1 NM_001212.4 C9ORF72 100.00 0 NM_018325.5 CACNA1A 100.00 1 NM_023035.3 CACNA1S 100.00 1 NM_000069.3 CAPN3 100.00 1 NM_000070.3 CASQ1 100.00 1 NM_001231.5 CAV3 100.00 1 NM_033337.3 CAVIN1 100.00 1 NM_012232.6 CCDC78 100.00 1 NM_001031737.3 CFL2 100.00 1 NM_138638.5 CHAT 100.00 1 NM_020549.4 CHCHD10 100.00 1 NM_213720.3 CHKB 100.00 1 NM_005198.5 CHMP2B 100.00 1 NM_014043.4 CHRNA1 100.00 1 NM_000079.4 CHRNB1 100.00 1 NM_000747.3 CHRND 100.00 1 NM_000751.3 CHRNE 100.00 1 NM_000080.4 CHRNG 100.00 1 NM_005199.5 CHST14 100.00 1 NM_130468.4 CLCN1 100.00 1 NM_000083.3 CLN3 100.00 1 NM_001042432.2 CNBP 100.00 1 NM_003418.5 CNTN1 100.00 1 NM_001843.4 COL12A1 100.00 1 NM_004370.6 COL13A1 100.00 1 NM_001130103.2 COL6A1 100.00 1 NM_001848.3 COL6A2 100.00 1 NM_001849.4 COL6A3 100.00 1 NM_004369.4 COLQ 100.00 1 NM_005677.4 COQ9 100.00 1 NM_020312.4 COX10 100.00 1 NM_001303.4 COX15 100.00 1 NM_078470.6 COX20 100.00 1 NM_198076.6 COX6B1 100.00 1 NM_001863.5 COX8A 100.00 1 NM_004074.3 CPT2 100.00 1 NM_000098.3 CRPPA 100.00 1 NM_001101426.4 CRYAB 100.00 1 NM_001289808.2 DAG1 100.00 1 NM_001177634.2 DCTN1 100.00 1 NM_004082.4 DES 100.00 1 NM_001927.4 DGUOK 100.00 1 NM_080916.3 DMD 100.00 1 NM_004006.2 DMPK 100.00 1 NM_004409.5 DNA2 100.00 1 NM_001080449.3 DNAJB2 100.00 1 NM_006736.6 DNAJB6 100.00 1 NM_058246.4 DNM2 100.00 1 NM_001005361.3 DNMT3B 100.00 1 NM_006892.4 DOK7 100.00 1 NM_173660.5 DPAGT1 100.00 1 NM_001382.4 DPM1 99.00 1 NM_001317035.1 DPM2 100.00 1 NM_003863.4 DPM3 100.00 1 NM_153741.2 DYNC1H1 100.00 1 NM_001376.5 DYSF 100.00 1 NM_001130987.2 ECEL1 100.00 1 NM_004826.4 EMD 100.00 1 NM_000117.3 ENO3 100.00 1 NM_053013.4 ERBB3 100.00 1 NM_001982.4 ERBB4 100.00 1 NM_005235.3 ETFA 100.00 1 NM_000126.4 ETFB 100.00 1 NM_001985.3 ETFDH 100.00 1 NM_004453.4 EXOSC3 100.00 1 NM_016042.4 EXOSC8 100.00 1 NM_181503.3 FASTKD2 100.00 1 NM_001136193.2 FBN2 100.00 1 NM_001999.4 FBXL4 100.00 1 NM_001278716.2 FBXO38 100.00 1 NM_205836.3 FDX2 100.00 1 NM_001031734.4 FHL1 100.00 1 NM_001159699.2 FIG4 100.00 1 NM_014845.6 FKRP 100.00 1 NM_024301.5 FKTN 100.00 1 NM_006731.2 FLAD1 100.00 1 NM_025207.5 FLNC 100.00 1 NM_001458.4 FOXRED1 100.00 1 NM_017547.4 FUS 100.00 1 NM_004960.4 FXR1 100.00 1 NM_005087.4 GAA 100.00 1 NM_000152.5 GABRA3 100.00 1 NM_000808.4 GARS1 100.00 1 NM_002047.4 GBE1 100.00 1 NM_000158.4 GFER 100.00 1 NM_005262.3 GFPT1 100.00 1 NM_001244710.2 GLE1 100.00 1 NM_001003722.2 GLI3 100.00 1 NM_000168.6 GMPPB 100.00 1 NM_021971.4 GNE 100.00 1 NM_005476.7 GOLGA2 100.00 1 XM_005251932.1 GYG1 100.00 1 NM_004130.4 GYS1 100.00 1 NM_002103.5 HACD1 100.00 1 NM_014241.4 HADHA 100.00 1 NM_000182.5 HADHB 100.00 1 NM_000183.3 HEXB 100.00 1 NM_000521.4 HNRNPA1 100.00 1 NM_031157.4 HNRNPA2B1 100.00 1 NM_031243.3 HNRNPDL 100.00 1 NM_031372.3 HRAS 100.00 1 NM_005343.4 HSPB3 100.00 1 NM_006308.3 HSPB8 100.00 1 NM_014365.3 HSPG2 100.00 1 NM_005529.7 IBA57 100.00 1 NM_001010867.4 IGHMBP2 100.00 1 NM_002180.3 INPP5K 100.00 1 NM_016532.4 ISCU 100.00 1 NM_213595.3 ITGA7 100.00 1 NM_002206.3 KBTBD13 100.00 1 NM_001101362.2 KCNA1 100.00 1 NM_000217.3 KCNH2 100.00 1 NM_000238.4 KCNJ18 100.00 1 NM_001194958.2 KCNJ2 100.00 1 NM_000891.3 KCNQ1 100.00 1 NM_000218.3 KIF5A 100.00 1 NM_004984.4 KLHL40 100.00 1 NM_152393.4 KLHL41 100.00 1 NM_006063.3 KLHL9 100.00 1 NM_018847.4 KY 100.00 1 NM_178554.6 LAMA2 100.00 1 NM_000426.3 LAMA5 100.00 1 NM_005560.6 LAMB2 100.00 1 NM_002292.4 LAMP2 100.00 1 NM_002294.3 LARGE1 100.00 1 NM_004737.6 LDB3 98.00 1 NM_001171610.2 LDHA 100.00 1 NM_005566.4 LGI4 100.00 1 NM_139284.3 LIMS2 100.00 1 NM_017980.4 LMNA 100.00 1 NM_170707.4 LMOD3 100.00 1 NM_198271.5 LPIN1 100.00 1 NM_001349206.2 LRP4 100.00 1 NM_002334.4 LRPPRC 100.00 1 NM_133259.4 MAP3K20 100.00 1 NM_016653.3 MATR3 100.00 1 NM_018834.6 MCCC1 100.00 1 NM_020166.5 MCCC2 100.00 1 NM_022132.5 MEGF10 100.00 1 NM_001256545.2 MGME1 100.00 1 NM_052865.4 MPV17 100.00 1 NM_002437.5 MSTN 100.00 1 NM_005259.3 MTM1 100.00 1 NM_000252.3 MTMR14 100.00 1 NM_001077525.3 MUSK 100.00 1 NM_005592.4 MYBPC1 100.00 1 NM_002465.4 MYBPC3 100.00 1 NM_000256.3 MYH2 100.00 1 NM_017534.6 MYH3 100.00 1 NM_002470.4 MYH7 100.00 1 NM_000257.4 MYH8 100.00 1 NM_002472.3 MYL1 100.00 1 NM_079420.3 MYMK 100.00 1 NM_001080483.3 MYO18B 100.00 1 NM_032608.7 MYO9A 100.00 1 NM_006901.4 MYOT 100.00 1 NM_006790.3 MYPN 100.00 1 NM_032578.3 NDUFA1 100.00 1 NM_004541.4 NDUFA10 100.00 1 NM_004544.4 NDUFA11 100.00 1 NM_175614.5 NDUFA12 100.00 1 NM_018838.5 NDUFA2 100.00 1 NM_002488.5 NDUFA3 100.00 1 NM_004542.4 NDUFA9 100.00 1 NM_005002.5 NDUFAF1 100.00 1 NM_016013.4 NDUFAF2 100.00 1 NM_174889.5 NDUFAF5 100.00 1 NM_024120.5 NDUFAF6 100.00 1 NM_152416.4 NDUFS1 100.00 1 NM_005006.7 NDUFS2 100.00 1 NM_004550.4 NDUFS3 100.00 1 NM_004551.3 NDUFS4 100.00 1 NM_002495.4 NDUFS7 100.00 1 NM_024407.5 NDUFS8 100.00 1 NM_002496.4 NDUFV1 100.00 1 NM_007103.4 NDUFV2 100.00 1 NM_021074.5 NEB 88.00 1 NM_001271208.2 NEFH 100.00 1 NM_021076.4 NUBPL 100.00 1 NM_025152.3 OPTN 100.00 1 NM_001008212.2 ORAI1 100.00 1 NM_032790.3 PABPN1 100.00 1 NM_004643.3 PET100 100.00 1 NM_001171155.2 PFKM 100.00 1 NM_000289.6 PFN1 100.00 1 NM_005022.4 PGAM2 100.00 1 NM_000290.4 PGK1 100.00 1 NM_000291.4 PGM1 100.00 1 NM_002633.3 PHKA1 100.00 1 NM_002637.4 PHKB 100.00 1 NM_000293.3 PHKG1 100.00 1 NM_001258459.1 PIEZO2 100.00 1 NM_022068.3 PIP5K1C 100.00 1 NM_012398.3 PLEC 100.00 1 NM_201380.4 PLEKHG5 100.00 1 NM_001265592.1 PNPLA2 100.00 1 NM_020376.4 PNPLA8 100.00 1 NM_001256007.3 POGLUT1 100.00 1 NM_152305.3 POLG 100.00 1 NM_001126131.2 POLG2 100.00 1 NM_007215.4 POMGNT1 100.00 1 NM_001243766.1 POMGNT2 100.00 1 NM_032806.6 POMK 100.00 1 NM_032237.5 POMT1 100.00 1 NM_001077365.2 POMT2 100.00 1 NM_013382.5 PREPL 100.00 1 NM_001171613.2 PRKAG2 100.00 1 NM_016203.4 PRPH 100.00 1 NM_006262.4 PUS1 100.00 1 NM_025215.6 PYGM 100.00 1 NM_005609.4 PYROXD1 100.00 1 NM_024854.5 RAPSN 100.00 1 NM_005055.5 RBCK1 100.00 1 NM_031229.4 RBM7 100.00 1 NM_001286045.1 REEP1 100.00 1 NM_001371279.1 RNASEH1 100.00 1 NM_002936.5 RRM2B 100.00 1 NM_015713.5 RXYLT1 100.00 1 NM_014254.3 RYR1 100.00 1 NM_000540.3 SCN4A 100.00 1 NM_000334.4 SCO1 100.00 1 NM_004589.4 SCO2 100.00 1 NM_005138.3 SELENON 90.00 1 NM_020451.3 SETX 100.00 1 NM_015046.7 SGCA 100.00 1 NM_000023.4 SGCB 100.00 1 NM_000232.5 SGCD 100.00 1 XM_017009724.1 SGCG 100.00 1 NM_000231.2 SIGMAR1 100.00 1 NM_005866.4 SIL1 100.00 1 NM_022464.5 SLC18A3 100.00 1 NM_003055.3 SLC22A5 100.00 1 NM_003060.4 SLC25A20 100.00 1 NM_000387.6 SLC25A4 100.00 1 NM_001151.4 SLC52A2 100.00 1 NM_001363118.2 SLC52A3 100.00 1 NM_033409.4 SLC5A7 100.00 1 NM_021815.5 SMCHD1 100.00 1 NM_015295.3 SMN1 6.00 0 NM_000344.3+(exon 1 à7 non couvert) SNAP25 100.00 1 NM_130811.4 SOD1 100.00 1 NM_000454.5 SPEG 100.00 1 NM_005876.5 SPG11 100.00 1 NM_025137.4 SPG7 100.00 1 NM_003119.4 SPTBN4 100.00 1 NM_020971.3 SQSTM1 100.00 1 NM_003900.5 STAC3 100.00 1 NM_145064.3 STIM1 100.00 1 NM_001277961.1 SUCLA2 100.00 1 NM_003850.2 SUCLG1 100.00 1 NM_003849.4 SURF1 100.00 1 NM_003172.4 SYNE1 100.00 1 NM_182961.4 SYNE2 100.00 1 NM_182914.2 SYT2 100.00 1 NM_177402.5 TACO1 100.00 1 NM_016360.4 TANGO2 100.00 1 NM_152906.7 TARDBP 100.00 1 NM_007375.4 TARS2 100.00 1 NM_025150.5 TAFAZZIN 100.00 1 NM_000116.5 TCAP 100.00 1 NM_003673.4 TIA1 100.00 1 NM_022173.4 TK2 100.00 1 NM_004614.5 TMEM43 100.00 1 NM_024334.3 TNNI2 100.00 1 NM_003282.4 TNNT1 100.00 1 NM_003283.6 TNNT3 100.00 1 NM_006757.4 TNPO3 100.00 1 NM_012470.3 TOP3A 100.00 1 NM_004618.5 TOR1AIP1 100.00 1 NM_001267578.1 TPM2 100.00 1 NM_003289.4 TPM3 100.00 1 NM_152263.4 TRAPPC11 100.00 1 NM_021942.6 TRIM32 100.00 1 NM_012210.3 TRIM54 100.00 1 NM_187841.3 TRIM63 100.00 1 NM_032588.3 TRIP4 100.00 1 NM_016213.5 TRMT5 100.00 1 NM_020810.3 TRPV4 100.00 1 NM_021625.5 TSFM 100.00 1 NM_005726.6 TTN 100.00 1 NM_001267550.2 TUBA4A 100.00 1 NM_006000.3 TWNK 100.00 1 NM_021830.5 TYMP 100.00 1 NM_001257989.1 UBA1 100.00 1 NM_003334.4 UBQLN2 100.00 1 NM_013444.3 VAMP1 100.00 1 NM_014231.5 VAPB 100.00 1 NM_004738.5 VARS1 100.00 1 NM_001167734.1 VCP 100.00 1 NM_007126.5 VMA21 100.00 1 NM_001363810.1 VPS33B 100.00 1 NM_018668.5 VRK1 100.00 1 NM_003384.3 WARS1 100.00 1 NM_004184.4 XK 100.00 1 NM_021083.4 YARS2 100.00 1 NM_001040436.3 ZC4H2 100.00 1 NM_018684.4 -
Neurodegeneration (99 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ANG 100.00 1 NM_001145.4 ANXA11 100.00 1 NM_145868.2 APP 100.00 1 NM_000484.4 ATP13A2 100.00 1 NM_022089.4 CHMP2B 100.00 1 NM_014043.4 DCTN1 100.00 1 NM_004082.4 ERBB4 100.00 1 NM_005235.3 FIG4 100.00 1 NM_014845.6 FUS 100.00 1 NM_004960.4 GBA1 100.00 1 NM_000157.4 GRN 100.00 1 NM_002087.3 KIF5A 100.00 1 NM_004984.4 LRRK2 100.00 1 NM_198578.4 MAPT 100.00 1 NM_001123066.3 MATR3 100.00 1 NM_018834.6 NEFH 100.00 1 NM_021076.4 NEK1 100.00 1 NM_001199397.3 NOTCH3 100.00 1 NM_000435.3 OPTN 100.00 1 NM_001008212.2 PARK7 100.00 1 NM_007262.5 PFN1 100.00 1 NM_005022.4 PINK1 100.00 1 NM_032409.3 PRKN 100.00 1 NM_004562.3 PRNP 100.00 1 NM_000311.5 PRPH 100.00 1 NM_006262.4 PSEN1 100.00 1 NM_000021.4 PSEN2 100.00 1 NM_000447.3 SETX 100.00 1 NM_015046.7 SIGMAR1 100.00 1 NM_005866.4 SNCA 100.00 1 NM_000345.4 SOD1 100.00 1 NM_000454.5 SPG11 100.00 1 NM_025137.4 TARDBP 100.00 1 NM_007375.4 TUBA4A 100.00 1 NM_006000.3 UBQLN2 100.00 1 NM_013444.3 VAPB 100.00 1 NM_004738.5 VCP 100.00 1 NM_007126.5 AARS2 100.00 1 NM_020745.4 ABAT 100.00 1 NM_020686.6 ABCB7 100.00 1 NM_001271696.3 ABCD1 100.00 1 NM_000033.4 ADPRS 100.00 1 NM_017825.3 AFG3L2 100.00 1 NM_006796.3 AP5Z1 100.00 1 NM_014855.3 APOE 100.00 1 NM_000041.4 ARSA 100.00 1 NM_000487.6 ATP1A3 100.00 1 NM_152296.5 ATP6AP2 100.00 1 NM_005765.3 C19ORF12 100.00 1 NM_031448.6 C9ORF72 100.00 1 NM_018325.5 CCNF 100.00 1 NM_001761.3 CHCHD10 100.00 1 NM_213720.3 CHCHD2 100.00 1 NM_016139.4 CLN3 100.00 1 NM_001042432.2 CLN5 100.00 1 NM_006493.4 CLN6 100.00 1 NM_017882.3 CLN8 100.00 1 NM_018941.4 COA7 100.00 1 NM_023077.3 COASY 100.00 1 NM_025233.7 CRAT 100.00 1 NM_000755.5 CSF1R 100.00 1 NM_005211.3 CTSD 100.00 1 NM_001909.5 CTSF 100.00 1 NM_003793.4 DNAJC13 100.00 1 NM_015268.4 DNAJC5 100.00 1 NM_025219.3 DNAJC6 100.00 1 NM_001256864.2 EIF4G1 100.00 1 NM_198241.3 FA2H 100.00 1 NM_024306.5 FBXO7 100.00 1 NM_012179.4 FTL 100.00 1 NM_000146.4 FXN 100.00 1 NM_000144.5 GCH1 100.00 1 NM_000161.3 GIGYF2 100.00 1 NM_001103146.3 GLUD2 100.00 1 NM_012084.4 GRID2 100.00 1 NM_001510.4 IREB2 100.00 1 NM_004136.4 ITM2B 100.00 1 NM_021999.5 KLC4 100.00 1 NM_201521.3 MFSD8 100.00 1 NM_001371596.2 NPC1 100.00 1 NM_000271.5 NPC2 100.00 1 NM_006432.5 PANK2 100.00 1 NM_153638.3 PGAP1 100.00 1 NM_024989.4 PLA2G6 100.00 1 NM_003560.4 PODXL 94.00 1 NM_001018111.3 POLG 100.00 1 NM_001126131.2 PPT1 100.00 1 NM_000310.4 RAB18 100.00 1 NM_021252.5 REPS1 100.00 1 NM_001286611.1 SLC6A3 100.00 1 NM_001044.5 SPG21 100.00 1 NM_016630.7 SQSTM1 100.00 1 NM_003900.5 SYNJ1 100.00 1 NM_003895.3 TBK1 100.00 1 NM_013254.4 UBTF 100.00 1 NM_014233.4 UCHL1 100.00 1 NM_004181.5 VPS13C 100.00 1 NM_020821.3 VPS35 100.00 1 NM_018206.6 WDR45 100.00 1 NM_001029896.2 -
Neuromuscular disorders (548 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 0 No comment ABCD1 97.56 0 No comment ABHD12 88.30 0 No comment ABHD5 99.85 0 No comment ACAD9 100.00 0 No comment ACADL 98.57 0 No comment ACADM 99.87 0 No comment ACADS 97.51 0 No comment ACADVL 98.04 0 No comment ACTA1 99.79 0 No comment ACVR1 100.00 0 No comment ADAR 100.00 0 No comment ADSS1 99.98 0 No comment AFG3L2 94.80 0 No comment AGK 100.00 0 No comment AGL 100.00 0 No comment AGRN 96.53 0 No comment AIFM1 99.98 0 No comment AIMP1 99.97 0 No comment ALDH18A1 100.00 0 No comment ALDH3A2 99.94 0 No comment ALDOA 100.00 0 No comment ALG13 99.53 0 No comment ALG14 100.00 0 No comment ALG2 99.83 0 No comment ALS2 100.00 0 No comment AMPD1 100.00 0 No comment AMPD2 99.90 0 No comment ANG 100.00 0 No comment ANO5 100.00 0 No comment ANXA11 99.99 0 No comment AP4B1 100.00 0 No comment AP4E1 99.99 0 No comment AP4M1 100.00 0 No comment AP4S1 100.00 0 No comment AP5Z1 99.25 0 No comment APTX 99.96 0 No comment AR 100.00 0 No comment ARG1 100.00 0 No comment ARHGEF10 99.98 0 No comment ARHGEF28 99.05 0 No comment ARL6IP1 100.00 0 No comment ARSI 99.82 0 No comment ASAH1 100.00 0 No comment ASCC1 91.30 0 No comment ATL1 99.89 0 No comment ATL3 99.93 0 No comment ATM 100.00 0 No comment ATP13A2 98.30 0 No comment ATP1A1 100.00 0 No comment ATP2A1 100.00 0 No comment ATP7A 100.00 0 No comment ATXN2 93.25 0 No comment AUH 99.24 0 No comment B3GALNT2 92.96 0 No comment B4GAT1 99.99 0 No comment B4GALNT1 99.99 0 No comment BAG3 100.00 0 No comment BCS1L 100.00 0 No comment BICD2 100.00 0 No comment BIN1 99.94 0 No comment BSCL2 100.00 0 No comment BVES 100.00 0 No comment TWNK 100.00 0 No comment MTRFR 100.00 0 No comment C19ORF12 100.00 0 No comment C1QBP 99.47 0 No comment C9ORF72 99.96 0 No comment CACNA1A 99.53 0 No comment CACNA1S 100.00 0 No comment CAPN1 99.97 0 No comment CAPN3 99.99 0 No comment CASQ1 100.00 0 No comment CAV3 100.00 0 No comment CCDC78 100.00 0 No comment CCT5 99.92 0 No comment CFL2 100.00 0 No comment CHAT 99.97 0 No comment CHCHD10 99.66 0 No comment CHKB 99.75 0 No comment CHMP2B 100.00 0 No comment CHRNA1 99.99 0 No comment CHRNB1 99.95 0 No comment CHRND 100.00 0 No comment CHRNE 100.00 0 No comment CHRNG 99.87 0 No comment CHST14 99.50 0 No comment CLCN1 100.00 0 No comment CLN3 100.00 0 No comment CLN8 100.00 0 No comment CLTCL1 99.04 0 No comment CNBP 100.00 0 No comment CNTN1 100.00 0 No comment CNTNAP1 100.00 0 No comment COL12A1 100.00 0 No comment COL13A1 99.52 0 No comment COL6A1 99.90 0 No comment COL6A2 99.98 0 No comment COL6A3 100.00 0 No comment COLQ 100.00 0 No comment COQ9 100.00 0 No comment COX10 100.00 0 No comment COX15 99.99 0 No comment COX20 100.00 0 No comment COX6A1 100.00 0 No comment COX6B1 100.00 0 No comment COX8A 100.00 0 No comment CPT1C 100.00 0 No comment CPT2 98.55 0 No comment CRYAB 100.00 0 No comment CSF1R 99.99 0 No comment CTDP1 100.00 0 No comment CYP27A1 99.38 0 No comment CYP2U1 93.20 0 No comment CYP7B1 95.41 0 No comment DAG1 100.00 0 No comment DARS2 100.00 0 No comment DCAF8 100.00 0 No comment DCTN1 100.00 0 No comment DDHD1 99.58 0 No comment DDHD2 100.00 0 No comment DES 100.00 0 No comment DGAT2 100.00 0 No comment DGUOK 100.00 0 No comment DHTKD1 99.54 0 No comment DMD 99.96 0 No comment DMPK 99.91 0 No comment DMXL2 100.00 0 No comment DNAJB2 100.00 0 No comment DNAJB6 91.94 0 No comment DNM2 99.84 0 No comment DNMT1 99.54 0 No comment DOK7 97.44 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment DST 100.00 0 No comment DYNC1H1 99.92 0 No comment DYSF 99.72 0 No comment ECEL1 99.80 0 No comment EGR2 100.00 0 No comment ELOVL4 100.00 0 No comment EMD 98.97 0 No comment ENO3 100.00 0 No comment ENTPD1 100.00 0 No comment ERBB3 100.00 0 No comment ERBB4 100.00 0 No comment ERCC2 98.91 0 No comment ERLIN1 100.00 0 No comment ERLIN2 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment EXOSC3 100.00 0 No comment EXOSC8 100.00 0 No comment FA2H 95.71 0 No comment FAM111B 100.00 0 No comment HYCC1 100.00 0 No comment RETREG1 93.72 0 No comment FARS2 100.00 0 No comment FASTKD2 100.00 0 No comment FBLN5 100.00 0 No comment FBN2 100.00 0 No comment FBXL4 100.00 0 No comment FBXO38 100.00 0 No comment FBXO7 99.78 0 No comment FDX2 100.00 0 No comment FGD4 99.98 0 No comment CFH 100.00 0 No comment FIG4 100.00 0 No comment FKRP 100.00 0 No comment FKTN 100.00 0 No comment FLAD1 100.00 0 No comment FLNC 100.00 0 No comment FLRT1 100.00 0 No comment FLVCR1 100.00 0 No comment FOXRED1 100.00 0 No comment FUS 100.00 0 No comment FXN 94.27 0 No comment GAA 100.00 0 No comment GABRA3 99.59 0 No comment GAD1 100.00 0 No comment GALC 98.98 0 No comment GAN 98.52 0 No comment GARS1 97.89 0 No comment GART 99.99 0 No comment GBA1 100.00 0 No comment GBA2 100.00 0 No comment GBE1 100.00 0 No comment GCH1 99.71 0 No comment GDAP1 100.00 0 No comment GFAP 100.00 0 No comment GFER 99.09 0 No comment GFPT1 99.94 0 No comment GGPS1 100.00 0 No comment GJB1 100.00 0 No comment GJB3 100.00 0 No comment GJC2 96.72 0 No comment GLA 100.00 0 No comment GLB1 100.00 0 No comment GLE1 100.00 0 No comment GLI3 100.00 0 No comment GLTP 100.00 0 No comment GMPPB 100.00 0 No comment GNB4 100.00 0 No comment GNE 100.00 0 No comment GOLGA2 95.41 0 No comment GOSR2 100.00 0 No comment GSN 97.80 0 No comment GYG1 94.40 0 No comment GYS1 100.00 0 No comment HADHA 100.00 0 No comment HADHB 100.00 0 No comment HARS1 99.73 0 No comment HEPACAM 99.85 0 No comment HEXA 100.00 0 No comment HEXB 99.19 0 No comment HINT1 100.00 0 No comment HK1 100.00 0 No comment HNRNPA1 97.19 0 No comment HNRNPA2B1 100.00 0 No comment HNRNPDL 99.98 0 No comment HOXD10 100.00 0 No comment HRAS 100.00 0 No comment HSD17B4 100.00 0 No comment HSPB1 100.00 0 No comment HSPB3 100.00 0 No comment HSPB8 100.00 0 No comment HSPD1 95.18 0 No comment HSPG2 99.19 0 No comment IBA57 92.01 0 No comment IFIH1 100.00 0 No comment IFRD1 98.86 0 No comment IGHMBP2 99.38 0 No comment ELP1 100.00 0 No comment INF2 99.92 0 No comment INPP5K 99.31 0 No comment ISCU 98.41 0 No comment CRPPA 95.50 0 No comment ITGA7 100.00 0 No comment KARS1 100.00 0 No comment KBTBD13 99.16 0 No comment KCNA1 100.00 0 No comment KCNE1 100.00 0 No comment KCNE2 100.00 0 No comment KCNE3 100.00 0 No comment KCNH2 98.15 0 No comment KCNJ12 100.00 0 No comment KCNJ2 100.00 0 No comment KCNQ1 100.00 0 No comment WASHC5 100.00 0 No comment KIF1A 98.74 0 No comment KIF1B 99.84 0 No comment KIF1C 100.00 0 No comment KIF21A 98.54 0 No comment KIF5A 100.00 0 No comment KLC4 99.99 0 No comment KLHL40 100.00 0 No comment KLHL41 100.00 0 No comment KLHL9 100.00 0 No comment KY 100.00 0 No comment L1CAM 99.98 0 No comment LAMA2 100.00 0 No comment LAMA5 98.39 0 No comment LAMB2 100.00 0 No comment LAMP2 99.60 0 No comment LARGE1 100.00 0 No comment LDB3 100.00 0 No comment LDHA 99.42 0 No comment LGI4 100.00 0 No comment LIMS2 91.30 0 No comment LITAF 100.00 0 No comment LMNA 99.28 0 No comment LMOD3 100.00 0 No comment LPIN1 99.97 0 No comment CORIN 99.01 0 No comment LRPPRC 98.80 0 No comment LRSAM1 99.33 0 No comment MARS1 100.00 0 No comment MATR3 100.00 0 No comment MB 100.00 0 No comment MED25 100.00 0 No comment MEGF10 99.99 0 No comment MFN2 100.00 0 No comment MLC1 98.57 0 No comment MAP3K20 100.00 0 No comment MARS2 100.00 0 No comment MME 100.00 0 No comment MORC2 100.00 0 No comment MPV17 100.00 0 No comment MPZ 99.80 0 No comment MSTN 100.00 0 No comment MTM1 99.91 0 No comment MTMR14 99.92 0 No comment MTMR2 99.55 0 No comment MTPAP 99.98 0 No comment MUSK 100.00 0 No comment MYBPC1 100.00 0 No comment MYBPC3 100.00 0 No comment MYH7B 99.85 0 No comment MYH2 100.00 0 No comment MYH3 100.00 0 No comment MYH4 100.00 0 No comment MYH7 100.00 0 No comment MYH8 100.00 0 No comment MYL1 100.00 0 No comment MYO18B 99.80 0 No comment MYO9A 99.74 0 No comment MYOT 100.00 0 No comment MYPN 99.97 0 No comment NAGLU 96.69 0 No comment NDRG1 100.00 0 No comment NDUFA1 100.00 0 No comment NDUFA10 96.45 0 No comment NDUFA11 100.00 0 No comment NDUFA12 100.00 0 No comment NDUFA2 100.00 0 No comment NDUFA3 100.00 0 No comment NDUFA9 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFAF2 100.00 0 No comment NDUFAF5 99.96 0 No comment NDUFAF6 95.61 0 No comment NDUFS1 100.00 0 No comment NDUFS2 100.00 0 No comment NDUFS3 100.00 0 No comment NDUFS4 99.96 0 No comment NDUFS7 93.34 0 No comment NDUFS8 100.00 0 No comment NDUFV1 99.62 0 No comment NDUFV2 100.00 0 No comment NEB 100.00 0 No comment NEFH 81.41 0 No comment NEFL 100.00 0 No comment NEK1 99.98 0 No comment NGF 100.00 0 No comment NIPA1 92.99 0 No comment NT5C2 100.00 0 No comment NTRK1 98.36 0 No comment NUBPL 99.92 0 No comment MED12 99.98 0 No comment OPA3 100.00 0 No comment OPTN 100.00 0 No comment ORAI1 92.14 0 No comment P4HA1 100.00 0 No comment PABPN1 100.00 0 No comment PANK2 100.00 0 No comment PDHA1 92.64 0 No comment PDK3 97.80 0 No comment PDYN 100.00 0 No comment PET100 100.00 0 No comment PEX1 100.00 0 No comment PEX7 95.60 0 No comment PFKM 100.00 0 No comment PFN1 100.00 0 No comment PGAM2 99.97 0 No comment PGAP1 100.00 0 No comment PGK1 99.88 0 No comment PGM1 100.00 0 No comment PHKA1 99.99 0 No comment PHKB 99.97 0 No comment PHOX2A 96.24 0 No comment PHYH 99.81 0 No comment PIEZO2 100.00 0 No comment PIP5K1C 94.98 0 No comment PLA2G6 100.00 0 No comment PLEC 99.26 0 No comment PLEKHG5 100.00 0 No comment PLP1 100.00 0 No comment PMP2 100.00 0 No comment PMP22 100.00 0 No comment PNKP 99.84 0 No comment PNPLA2 98.21 0 No comment PNPLA6 99.95 0 No comment PNPLA8 100.00 0 No comment POGLUT1 100.00 0 No comment POLG 100.00 0 No comment POLG2 100.00 0 No comment POLR3A 100.00 0 No comment POLR3B 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.53 0 No comment PPP2R2B 100.00 0 No comment PRDM12 81.28 0 No comment PREPL 99.98 0 No comment PRKAG2 95.75 0 No comment PRNP 99.92 0 No comment PRPH 99.62 0 No comment PRPS1 99.91 0 No comment PRUNE1 100.00 0 No comment PRX 99.89 0 No comment PSEN1 100.00 0 No comment HACD1 94.60 0 No comment CAVIN1 100.00 0 No comment PTRH2 99.91 0 No comment PUS1 100.00 0 No comment PYGM 100.00 0 No comment PYROXD1 99.99 0 No comment RAB3GAP2 100.00 0 No comment RAB7A 100.00 0 No comment RAPSN 100.00 0 No comment RBCK1 99.76 0 No comment RBM7 100.00 0 No comment REEP1 100.00 0 No comment REEP2 97.04 0 No comment RNASEH2B 94.58 0 No comment RNASET2 100.00 0 No comment RRM2B 100.00 0 No comment RTN2 99.44 0 No comment RYR1 99.39 0 No comment RYR3 100.00 0 No comment SACS 99.95 0 No comment SBF1 98.38 0 No comment SBF2 99.92 0 No comment SCN10A 100.00 0 No comment SCN11A 99.98 0 No comment SCN4A 100.00 0 No comment SCN5A 100.00 0 No comment SCN9A 99.99 0 No comment SCO1 100.00 0 No comment SCO2 93.85 0 No comment SELENON 84.10 0 No comment SEPTIN9 99.38 0 No comment SETX 100.00 0 No comment SGCA 100.00 0 No comment SGCB 91.50 0 No comment SGCD 100.00 0 No comment SGCE 93.30 0 No comment SGCG 100.00 0 No comment SGPL1 100.00 0 No comment SH3TC2 100.00 0 No comment SIGMAR1 92.51 0 No comment SIL1 99.95 0 No comment SLC12A6 100.00 0 No comment SLC16A1 100.00 0 No comment SLC16A2 99.97 0 No comment SLC18A3 100.00 0 No comment SLC22A5 100.00 0 No comment SLC25A15 100.00 0 No comment SLC25A20 100.00 0 No comment SLC25A4 99.81 0 No comment SLC25A42 99.60 0 No comment SLC25A46 100.00 0 No comment SLC2A1 100.00 0 No comment SLC33A1 100.00 0 No comment SLC52A2 100.00 0 No comment SLC52A3 99.86 0 No comment SLC5A7 100.00 0 No comment SMCHD1 100.00 0 No comment SMN1 100.00 0 No comment SNAP25 100.00 0 No comment SOD1 100.00 0 No comment SOX10 95.36 0 No comment SPAST 99.83 0 No comment SPEG 98.78 0 No comment SPG11 100.00 0 No comment SPART 100.00 0 No comment SPG21 100.00 0 No comment SPG7 95.78 0 No comment SPR 99.98 0 No comment SPTBN4 98.07 0 No comment SPTLC1 99.27 0 No comment SPTLC2 96.43 0 No comment SQSTM1 94.05 0 No comment SRPK3 98.13 0 No comment STAC3 100.00 0 No comment STIM1 100.00 0 No comment SUCLA2 99.86 0 No comment SUCLG1 93.27 0 No comment SUN1 100.00 0 No comment SURF1 100.00 0 No comment SYNE1 100.00 0 No comment SYNE2 100.00 0 No comment SYT2 99.96 0 No comment TACO1 99.66 0 No comment TANGO2 99.94 0 No comment TARDBP 100.00 0 No comment TARS2 100.00 0 No comment WWTR1 97.30 0 No comment TBCE 100.00 0 No comment TBK1 99.99 0 No comment TCAP 100.00 0 No comment TDP1 100.00 0 No comment TECPR2 99.92 0 No comment TFG 99.98 0 No comment TGM6 100.00 0 No comment TH 98.79 0 No comment TIA1 100.00 0 No comment TK2 100.00 0 No comment TMEM43 100.00 0 No comment RXYLT1 100.00 0 No comment TMEM65 90.50 0 No comment MYMK 100.00 0 No comment TNNI2 100.00 0 No comment TNNT1 94.05 0 No comment TNNT3 100.00 0 No comment TNPO3 100.00 0 No comment TOR1A 99.70 0 No comment TOR1AIP1 100.00 0 No comment TPI1 99.90 0 No comment TPM2 100.00 0 No comment TPM3 98.74 0 No comment TRAPPC11 99.97 0 No comment TRIM2 100.00 0 No comment TRIM32 100.00 0 No comment TRIM54 96.63 0 No comment TRIM63 100.00 0 No comment TRIP4 100.00 0 No comment TRMT5 100.00 0 No comment TRPV4 100.00 0 No comment TSFM 86.80 0 No comment TTBK2 100.00 0 No comment TTN 100.00 0 No comment TTR 100.00 0 No comment TUBA4A 100.00 0 No comment TUBB3 99.01 0 No comment TUBB4A 100.00 0 No comment TYMP 100.00 0 No comment UBA1 100.00 0 No comment UBQLN2 99.30 0 No comment UNC13A 99.74 0 No comment USP8 100.00 0 No comment VAMP1 100.00 0 No comment VAPB 99.77 0 No comment VARS2 100.00 0 No comment VCP 97.10 0 No comment VMA21 77.99 0 No comment VPS33B 100.00 0 No comment VPS37A 99.28 0 No comment VRK1 100.00 0 No comment WARS1 100.00 0 No comment WDR45 100.00 0 No comment WDR48 100.00 0 No comment WNK1 100.00 0 No comment XK 99.44 0 No comment YARS1 100.00 0 No comment YARS2 100.00 0 No comment ZC4H2 100.00 0 No comment ZFHX2 100.00 0 No comment ZFR 100.00 0 No comment ZFYVE26 100.00 0 No comment ZFYVE27 100.00 0 No comment -
Neuromuscular disorders (166 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACADVL 0.00 0 No value for column 2 ACTA1 0.00 0 No value for column 2 AGRN 0.00 0 No value for column 2 ALDOA 0.00 0 No value for column 2 ALG14 0.00 0 No value for column 2 ALG2 99.94 0 No comment ALS2 100.00 0 No comment ANG 100.00 0 No comment ANO5 100.00 0 No comment ASAH1 99.94 0 No comment ATP7A 100.00 0 No comment ATXN2 89.10 0 No comment B3GALNT2 85.88 0 No comment B4GAT1 100.00 0 No comment BAG3 100.00 0 No comment BICD2 100.00 0 No comment BIN1 100.00 0 No comment BSCL2 100.00 0 No comment C9ORF72 100.00 0 No comment CAV3 100.00 0 No comment CFL2 99.75 0 No comment CHAT 100.00 0 No comment CHKB 99.69 0 No comment CHRNA1 100.00 0 No comment CHRNB1 100.00 0 No comment CHRND 100.00 0 No comment CHRNE 100.00 0 No comment CHRNG 100.00 0 No comment COL6A1 100.00 0 No comment COL6A2 100.00 0 No comment COL6A3 100.00 0 No comment COLQ 100.00 0 No comment CPT2 98.71 0 No comment CRPPA 95.75 0 No comment CRYAB 100.00 0 No comment DAG1 100.00 0 No comment DAO 100.00 0 No comment DCTN1 100.00 0 No comment DES 100.00 0 No comment DGUOK 100.00 0 No comment DMD 100.00 0 No comment DNAJB2 100.00 0 No comment DNAJB6 99.34 0 No comment DNM2 99.95 0 No comment DOK7 98.77 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment DYNC1H1 100.00 0 No comment DYSF 100.00 0 No comment ECEL1 95.92 0 No comment EMD 99.84 0 No comment ENO3 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment EXOSC3 100.00 0 No comment FBLN5 100.00 0 No comment FBXO38 100.00 0 No comment FDX2 100.00 0 No comment CFH 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNC 100.00 0 No comment FUS 100.00 0 No comment GAA 100.00 0 No comment GARS1 99.53 0 No comment GFPT1 99.98 0 No comment GLE1 100.00 0 No comment GMPPB 100.00 0 No comment GNE 100.00 0 No comment GRN 100.00 0 No comment HADHA 100.00 0 No comment HADHB 100.00 0 No comment HARS1 100.00 0 No comment HEXB 99.82 0 No comment HNRNPA1 99.61 0 No comment HNRNPA2B1 100.00 0 No comment HSPB1 100.00 0 No comment HSPB3 100.00 0 No comment HSPB8 100.00 0 No comment IGHMBP2 100.00 0 No comment ISCU 99.39 0 No comment KBTBD13 97.91 0 No comment KLHL40 100.00 0 No comment KLHL9 100.00 0 No comment LAMA2 100.00 0 No comment LAMB2 100.00 0 No comment LARGE1 100.00 0 No comment LAS1L 100.00 0 No comment LDB3 100.00 0 No comment LMNA 99.93 0 No comment LPIN1 100.00 0 No comment CORIN 98.90 0 No comment MATR3 100.00 0 No comment MEGF10 100.00 0 No comment MTM1 100.00 0 No comment MUSK 100.00 0 No comment MYBPC3 100.00 0 No comment MYH7B 100.00 0 No comment MYH3 100.00 0 No comment MYH7 100.00 0 No comment MYH8 100.00 0 No comment MYOT 100.00 0 No comment NEB 99.99 0 No comment NEFH 84.73 0 No comment OPTN 100.00 0 No comment PABPN1 91.84 0 No comment PFKM 100.00 0 No comment PFN1 100.00 0 No comment PGAM2 100.00 0 No comment PGK1 100.00 0 No comment PGM1 100.00 0 No comment PHKA1 100.00 0 No comment PHKB 100.00 0 No comment PLEC 99.82 0 No comment PLEKHG5 99.10 0 No comment POLG 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PREPL 100.00 0 No comment PYGM 100.00 0 No comment QDPR 99.04 0 No comment RAPSN 100.00 0 No comment REEP1 97.37 0 No comment RXYLT1 99.84 0 No comment RYR1 98.38 0 No comment SCN4A 100.00 0 No comment SELENON 84.04 0 No comment SETX 100.00 0 No comment SIGMAR1 96.60 0 No comment SIL1 100.00 0 No comment SLC18A3 100.00 0 No comment SLC52A2 100.00 0 No comment SLC52A3 100.00 0 No comment SLC5A7 100.00 0 No comment SMN1 96.55 0 No comment SNAP25 100.00 0 No comment SOD1 100.00 0 No comment SQSTM1 93.68 0 No comment SYT2 100.00 0 No comment TAF15 100.00 0 No comment TARDBP 100.00 0 No comment TFG 100.00 0 No comment TIA1 100.00 0 No comment TNNI2 100.00 0 No comment TNNT1 98.58 0 No comment TNNT3 100.00 0 No comment TNPO3 100.00 0 No comment TPM2 100.00 0 No comment TPM3 99.55 0 No comment TRPV4 100.00 0 No comment TSEN54 94.23 0 No comment TTN 100.00 0 No comment UBA1 100.00 0 No comment UBQLN2 99.88 0 No comment UNC13A 99.87 0 No comment VAPB 100.00 0 No comment VCP 98.45 0 No comment VEGFA 98.73 0 No comment VRK1 100.00 0 No comment -
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