- Analytes
- SQSTM1
SQSTM1
Name: |
sequestosome 1
|
Symbol: |
SQSTM1
|
Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
A170
autophagy receptor p62
p60
p62
p62B
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
|
- Amyotrophic Lateral Sclerosis (ALS) (gene panel)
- Ataxia Spasticity (gene panel)
- Hereditary Spastic Paraplegia (gene panel)
- Mitochondrial disorders (gene panel)
- Movement Disorders (gene panel)
- Movement Disorders (gene panel)
- Myopathy (gene panel)
- Myopathy (gene panel)
- Neurodegeneration (gene panel)
- Neuromuscular disorders (232 genes (= myopathy, metabolic myopathy, ion channel muscle diseases, muscular dystrophy, myotonic dystrophy, rhabdomyolysis, myasthenia)
- Neuromuscular disorders (548 genes)
- Neuromuscular disorders (gene panel)
- Neuromuscular disorders : congenital & distal myopathy, congenital muscle dystrophy / Limb-girdle muscular dystrophy / Rhabdomyolysis / Myopathy (with prominent contractures) / distal artrogryposis (gene panel)
- Neuropathy (gene panel)
- Skeletal dysplasia (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 -
Ataxia Spasticity - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 99.88 1 AARS1 99.99 1 ABCA2 100.00 1 ABCB7 99.58 1 ABCD1 99.98 1 ABHD12 99.98 1 ACO2 99.99 1 ADAR 99.84 1 ADGRG1 99.90 1 ADPRS 99.94 1 AFG3L2 99.97 1 AGTPBP1 99.68 1 AHI1 99.86 1 AIFM1 99.92 1 AIMP1 99.97 1 ALDH18A1 99.96 1 ALDH5A1 96.19 1 ALG6 93.37 1 ALS2 99.87 1 AMPD2 99.91 1 ANO10 99.93 1 AP4B1 96.92 1 AP4E1 99.94 1 AP4M1 99.98 1 AP4S1 87.89 1 AP5Z1 100.00 1 APOB 99.99 1 APTX 99.92 1 ARG1 99.95 1 ARL13B 99.53 1 ARL6IP1 99.51 1 ARSA 99.99 1 ARSI 100.00 1 ARX 95.36 1 ASPA 99.98 1 ATCAY 100.00 1 ATG5 99.81 1 ATL1 99.95 1 ATM 99.83 1 ATP13A2 99.96 1 ATP1A3 99.98 1 ATP2B3 99.98 1 ATP7B 100.00 1 ATP8A2 100.00 1 AUH 99.95 1 B4GALNT1 99.97 1 BCKDHA 99.97 1 BCKDHB 99.73 1 BCL11B 100.00 1 BCS1L 99.99 1 BICD2 99.99 1 BSCL2 99.99 1 BTD 100.00 1 C19ORF12 99.99 1 CA8 99.71 1 CACNA1A 98.16 1 CACNA1E 99.82 1 CACNA1G 99.95 1 CACNB4 99.20 1 CAMTA1 99.97 1 CAPN1 99.99 1 CC2D2A 99.95 1 CCDC88C 100.00 1 CCT5 99.99 1 CDK16 99.99 1 CEP290 98.10 1 CHP1 99.90 1 CLCN2 100.00 1 CNTNAP1 99.98 1 COA7 99.91 1 COQ2 99.90 1 COQ4 100.00 1 COQ8A 100.00 1 COQ9 99.62 1 COX10 99.99 1 COX15 100.00 1 COX20 99.67 1 CP 99.95 1 CPT1C 99.99 1 CSTB 100.00 1 CTBP1 99.98 1 CWF19L1 99.91 1 CYP27A1 100.00 1 CYP2U1 99.99 1 CYP7B1 99.82 1 DAB1 97.87 1 DARS1 98.85 1 DARS2 98.31 1 DBT 94.51 1 DDHD1 99.93 1 DDHD2 99.97 1 DDX3X 99.01 1 DEGS1 99.99 1 DLAT 99.65 1 DLD 99.89 1 DNAJC19 99.76 1 DNAJC3 99.92 1 DNAJC5 99.99 1 DNMT1 99.13 1 DOCK3 99.96 1 EARS2 99.96 1 EBF3 99.99 1 ECHS1 100.00 1 EEF2 99.95 1 EIF2AK1 99.90 1 ELOVL1 100.00 1 ELOVL4 99.91 1 ELOVL5 99.87 1 EMC1 99.85 1 ENTPD1 99.98 1 EPM2A 99.99 1 ERCC1 99.96 1 ERCC4 99.92 1 ERCC8 99.79 1 ERLIN1 99.98 1 ERLIN2 99.94 1 EXOSC3 100.00 1 FA2H 99.98 1 FARS2 100.00 1 FASTKD2 99.93 1 FAT2 99.99 1 FGF14 99.99 1 FITM2 99.99 1 FLRT1 100.00 1 FLVCR1 99.91 1 FOLR1 100.00 1 FRMD4A 100.00 1 FRMD7 99.97 1 GALC 99.92 1 GAN 99.98 1 GBA2 99.99 1 GBE1 99.73 1 GDAP2 95.02 1 GFAP 99.99 1 GFM2 99.87 1 GJC2 100.00 1 GLB1 100.00 1 GLRX5 100.00 1 GLS 99.78 1 GM2A 100.00 1 GOSR2 98.92 1 GPR143 99.60 1 GRID2 99.97 1 GRIN1 100.00 1 GRM1 100.00 1 GRN 100.00 1 GSX2 100.00 1 HACE1 99.76 1 HEXA 99.99 1 HEXB 99.91 1 HSD17B10 99.98 1 HSD17B4 99.71 1 HSPD1 83.42 1 IBA57 100.00 1 IFIH1 99.84 1 IFRD1 99.67 1 IFT140 100.00 1 INTS8 99.89 1 IRF2BPL 99.21 1 ISCA1 99.79 1 ITM2B 99.85 1 ITPR1 99.98 1 JAM2 91.82 1 KANK1 99.99 1 KCNA1 100.00 1 KCNA2 99.99 1 KCNA4 100.00 1 KCNC3 99.98 1 KCND3 99.98 1 KCNJ10 99.98 1 KCNJ6 100.00 1 KCNMA1 99.89 1 KCNQ2 100.00 1 KCTD7 99.98 1 KIDINS220 99.94 1 KIF1A 99.96 1 KIF1C 99.99 1 KIF5A 99.91 1 KLC2 100.00 1 L1CAM 99.98 1 L2HGDH 99.92 1 LAMA1 99.98 1 LAMB1 99.87 1 LIPT2 99.99 1 LYRM7 99.98 1 LYST 99.87 1 ERCC2 99.99 1 MAN2B1 99.99 1 MARS1 99.97 1 MARS2 100.00 1 MCOLN1 100.00 1 MECP2 99.95 1 MLC1 99.99 1 MMADHC 99.76 1 MME 97.17 1 MPV17 99.98 1 MRE11 99.93 1 MRPS34 100.00 1 MSTO1 76.34 1 MTCL1 100.00 1 MTPAP 99.97 1 MTRFR 99.87 1 MTTP 99.92 1 MYORG 99.99 1 NANS 100.00 1 NDUFA9 100.00 1 NDUFAF4 99.95 1 NDUFAF6 99.86 1 NDUFS1 99.79 1 NDUFS3 100.00 1 NDUFS7 99.99 1 NEFL 100.00 1 NEU1 99.98 1 NEXMIF 99.99 1 NF2 100.00 1 NHLRC1 100.00 1 NIPA1 99.91 1 NKX6-2 100.00 1 NOL3 100.00 1 NPC1 99.99 1 NPC2 100.00 1 NT5C2 99.96 1 NTNG2 99.98 1 NUP93 99.87 1 NUS1 99.90 1 OCLN 82.91 1 OFD1 99.68 1 MED12 99.95 1 OPA3 100.00 1 OPHN1 99.92 1 OTC 99.42 1 PARS2 99.99 1 PODXL 99.99 1 PCDH12 100.00 1 PCYT2 100.00 1 PDHA1 99.04 1 PDHX 99.64 1 PDYN 100.00 1 PEX10 100.00 1 PEX16 99.94 1 PEX7 99.72 1 PGAP1 99.56 1 PHYH 100.00 1 PIK3R5 99.99 1 PLA2G6 99.98 1 PLAA 99.79 1 PLD3 99.99 1 PLP1 99.98 1 PMM2 99.93 1 PMPCA 99.99 1 PMPCB 99.94 1 PNKP 100.00 1 PNPLA6 99.99 1 POLG 100.00 1 POLR3A 99.97 1 POLR3B 99.94 1 PRF1 100.00 1 PRKCG 99.99 1 PRNP 100.00 1 PRPS1 99.95 1 PRRT2 99.97 1 PSAP 99.94 1 PSEN1 100.00 1 PTPN23 100.00 1 PTRH2 99.99 1 PUM1 98.14 1 RAB11B 100.00 1 RAB18 99.76 1 RAB3GAP1 99.73 1 RAB3GAP2 99.69 1 REEP1 99.97 1 REEP2 99.99 1 RETREG1 99.99 1 RNASEH2A 99.95 1 RNASEH2B 99.94 1 RNASEH2C 99.99 1 RNF168 99.97 1 RNF170 99.90 1 RNF216 99.99 1 RORA 99.97 1 RPGRIP1L 96.35 1 RTN2 99.98 1 RTN4IP1 99.98 1 RUBCN 100.00 1 SACS 99.97 1 SAMD9L 99.95 1 SAMHD1 99.98 1 SARS1 98.53 1 SCN8A 99.77 1 SCYL1 100.00 1 SDHA 99.98 1 SDHAF1 99.99 1 SDHD 82.93 1 SEPSECS 99.78 1 SETX 99.97 1 SIL1 99.95 1 SLC13A5 99.99 1 SLC16A2 99.97 1 SLC17A5 99.71 1 SLC19A3 99.95 1 SLC1A3 99.98 1 SLC1A4 99.97 1 SLC25A15 100.00 1 SLC25A46 99.88 1 SLC2A1 99.93 1 SLC33A1 99.67 1 SLC44A1 99.90 1 SLC52A2 100.00 1 SLC52A3 99.94 1 SLC6A8 99.99 1 SLC9A1 99.96 1 SLC9A6 99.42 1 SMPD1 100.00 1 SNAP25 99.89 1 SNX14 99.73 1 SOX10 100.00 1 SPART 99.98 1 SPAST 99.77 1 SPG11 99.89 1 SPG21 99.97 1 SPG7 99.99 1 SPR 99.99 1 SPTAN1 99.96 1 SPTBN2 99.98 1 SQSTM1 100.00 1 SRD5A3 99.94 1 STUB1 99.99 1 SUCLA2 99.96 1 SUOX 100.00 1 SURF1 100.00 1 SVBP 99.04 1 SYNE1 99.95 1 SYT14 99.94 1 TANGO2 99.85 1 TBC1D20 100.00 1 TDP1 99.97 1 TDP2 99.97 1 TECPR2 99.96 1 TENM3 99.99 1 TFG 98.68 1 TGM6 99.99 1 THG1L 99.99 1 TMEM216 99.98 1 TMEM231 88.88 1 TMEM240 99.99 1 TMEM67 99.69 1 TMX2 99.99 1 ACD 99.99 1 TRAK1 99.98 1 TRAPPC12 99.96 1 TRAPPC4 100.00 1 TRIT1 99.25 1 TRPC3 99.97 1 TSEN2 99.98 1 TSEN54 100.00 1 TTBK2 99.93 1 TTC19 99.99 1 TTPA 99.88 1 TUBA1A 99.97 1 TUBB4A 100.00 1 TUBG1 99.95 1 TWNK 100.00 1 UBA5 99.95 1 UBAP1 99.51 1 UBTF 99.99 1 UCHL1 99.99 1 UFC1 99.35 1 UFM1 99.25 1 UGP2 99.85 1 USP8 99.67 1 VAMP1 100.00 1 VCP 99.99 1 VLDLR 99.99 1 VPS13B 99.90 1 VPS13D 99.96 1 VPS37A 99.96 1 VRK1 99.98 1 VWA3B 98.82 1 WARS2 97.72 1 WASHC5 99.98 1 WDR45B 100.00 1 WDR48 99.42 1 WDR73 99.92 1 WDR81 100.00 1 WWOX 100.00 1 XRCC1 99.96 1 ZC4H2 99.98 1 ZFR 99.94 1 ZFYVE26 100.00 1 ZFYVE27 99.99 1 -
Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AMPD2 99.99 1 AP4B1 99.97 1 ATP13A2 99.98 1 CAMTA1 99.97 1 COA7 100.00 1 COQ8A 100.00 1 COX20 99.40 1 DARS2 99.86 1 EIF2B3 99.95 1 FLVCR1 99.93 1 GDAP2 99.96 1 GJC2 96.12 1 HPDL 100.00 1 IBA57 96.45 1 KCNA2 100.00 1 KCND3 100.00 1 MMACHC 99.99 1 MSTO1 98.87 1 PUM1 99.95 1 RNF220 99.95 1 SLC9A1 99.86 1 TMEM240 99.83 1 TOE1 99.99 1 VPS13D 99.85 1 ALDH18A1 99.96 1 CWF19L1 99.89 1 ENTPD1 99.90 1 ERLIN1 99.96 1 NKX6-2 96.38 1 NT5C2 99.89 1 PHYH 99.65 1 POLR3A 99.95 1 ATM 99.83 1 BSCL2 100.00 1 CAPN1 100.00 1 CLP1 100.00 1 FAR1 99.83 1 HIKESHI 99.89 1 MRE11 99.90 1 SCYL1 99.64 1 SPTBN2 99.99 1 TPP1 99.88 1 AAAS 99.98 1 B4GALNT1 99.95 1 EIF2B1 99.96 1 KCNA1 99.96 1 KIF5A 99.93 1 MTRFR 99.85 1 PRICKLE1 99.97 1 SCN8A 99.90 1 VAMP1 99.70 1 ATP7B 99.99 1 ATP8A2 99.96 1 EXOSC8 99.69 1 FGF14 99.79 1 KPNA3 99.96 1 SACS 99.98 1 SPART 99.99 1 AP4S1 87.70 1 ATL1 99.95 1 DDHD1 99.98 1 EIF2B2 99.84 1 GALC 99.88 1 GCH1 99.74 1 GLRX5 98.29 1 IRF2BPL 98.65 1 NPC2 99.99 1 TMEM63C 99.99 1 VRK1 99.94 1 ZFYVE26 99.96 1 AP4E1 99.89 1 CLN6 98.04 1 HEXA 99.98 1 NIPA1 96.26 1 POLG 99.98 1 SPG11 99.94 1 SPG21 99.99 1 TTBK2 99.88 1 WDR73 99.99 1 ARL6IP1 99.84 1 CHMP1A 100.00 1 FA2H 99.93 1 SPG7 99.99 1 STUB1 99.73 1 CACNA1G 99.89 1 COASY 99.98 1 GFAP 99.94 1 GOSR2 99.75 1 KIF1C 99.99 1 NPTX1 99.35 1 PCYT2 97.60 1 TSEN54 98.24 1 VPS53 99.98 1 WDR45B 99.96 1 WDR81 100.00 1 AFG3L2 99.82 1 NPC1 99.84 1 ATCAY 99.99 1 ATP1A3 99.99 1 C19ORF12 99.36 1 CACNA1A 99.66 1 CPT1C 99.99 1 DNMT1 99.88 1 EEF2 99.99 1 KCNC3 94.29 1 MAG 99.81 1 OPA3 100.00 1 PNKP 100.00 1 PNPLA6 99.88 1 PRKCG 99.90 1 RTN2 99.99 1 TUBB4A 98.81 1 ALS2 99.91 1 ATP5MC3 100.00 1 CYP27A1 99.96 1 DARS1 99.87 1 EIF2B4 99.94 1 HSPD1 99.95 1 KIDINS220 99.97 1 KIF1A 99.96 1 MARS2 100.00 1 PGAP1 99.64 1 REEP1 99.99 1 SELENOI 99.88 1 SLC1A4 99.95 1 SPAST 99.83 1 ABHD12 99.11 1 DNAJC5 99.99 1 PDYN 99.98 1 TGM6 100.00 1 ARSA 100.00 1 PLA2G6 99.98 1 ANO10 99.92 1 ATG7 99.98 1 BTD 99.99 1 CACNA2D2 99.32 1 CLCN2 99.97 1 CTNNB1 99.98 1 EIF2B5 99.95 1 ITPR1 99.94 1 OPA1 99.87 1 RUBCN 99.94 1 SLC33A1 99.82 1 TFG 99.34 1 TSEN2 86.92 1 AIMP1 99.90 1 CYP2U1 97.44 1 EXOSC9 99.86 1 GRID2 99.98 1 MTTP 99.96 1 RFC1 99.44 1 SEPSECS 99.84 1 UCHL1 99.99 1 CCT5 99.97 1 FAT2 99.94 1 HEXB 99.91 1 PCDH12 100.00 1 REEP2 100.00 1 SIL1 99.99 1 SLC1A3 99.90 1 SLC25A46 99.93 1 SQSTM1 100.00 1 THG1L 99.95 1 ABHD16A 100.00 1 ARG1 99.98 1 ELOVL4 99.92 1 ELOVL5 99.95 1 FARS2 99.98 1 GRM1 99.87 1 HACE1 99.91 1 PEX7 99.87 1 RARS2 97.34 1 SNX14 99.73 1 SYNE1 99.96 1 TDP2 99.85 1 AP4M1 100.00 1 AP5Z1 99.94 1 COG5 99.92 1 IFRD1 99.96 1 PMPCB 99.98 1 RNF216 99.99 1 SAMD9L 99.98 1 VPS41 99.95 1 CA8 99.97 1 CYP7B1 99.87 1 DDHD2 99.74 1 ERLIN2 99.94 1 GPAA1 99.88 1 RNF170 99.94 1 TTPA 99.97 1 WASHC5 99.90 1 APTX 99.92 1 AUH 99.95 1 EXOSC3 99.98 1 GBA2 99.97 1 INPP5E 99.75 1 PMPCA 99.99 1 SETX 99.96 1 SPTAN1 99.97 1 UBAP1 99.96 1 VLDLR 99.93 1 ABCB7 98.62 1 ABCD1 99.78 1 AIFM1 99.43 1 AP1S2 97.43 1 ATP2B3 99.82 1 CASK 99.40 1 L1CAM 99.90 1 PLP1 99.93 1 -
Movement Disorders - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 99.99 1 ACTB 100.00 1 ACTL6B 99.90 1 ADAR 99.84 1 ADCY5 99.98 1 ADH1C 99.94 1 AFG3L2 99.97 1 ALDH5A1 96.19 1 ANO3 99.98 1 AP3D1 100.00 1 AP4M1 99.98 1 APTX 99.92 1 ARSA 99.99 1 ARV1 99.85 1 ARX 95.36 1 ATM 99.83 1 ATP13A2 99.96 1 ATP1A3 99.98 1 ATP6AP2 99.55 1 ATP7B 100.00 1 ATP8A2 100.00 1 ATXN2 99.88 1 AUH 99.95 1 BCAP31 99.95 1 BCS1L 99.99 1 C19ORF12 99.99 1 CACNA1A 99.98 1 CACNA1B 100.00 1 CACNA1E 99.82 1 CARS2 99.99 1 CHCHD2 99.89 1 CHMP2B 99.80 1 CHRNA4 100.00 1 CHRNB2 99.99 1 CIZ1 99.94 1 CLPB 99.97 1 CNTNAP1 99.98 1 COASY 99.98 1 COL6A3 99.99 1 COQ9 99.62 1 COX10 99.99 1 COX15 100.00 1 CP 99.95 1 CRAT 99.99 1 CSF1R 99.92 1 CTC1 100.00 1 CYP27A1 100.00 1 DCAF17 99.84 1 DCTN1 99.98 1 DDC 99.67 1 DEGS1 99.99 1 DHDDS 98.65 1 DHX30 99.96 1 DLAT 99.65 1 DLD 99.89 1 DMXL2 99.86 1 DNAJC13 99.86 1 DNAJC5 99.99 1 DNAJC6 99.48 1 DNAL4 99.89 1 DRD3 100.00 1 EARS2 99.96 1 ECHS1 100.00 1 EEF1A2 100.00 1 EIF4G1 100.00 1 EPRS1 99.53 1 ETHE1 84.97 1 FA2H 99.98 1 FASTKD2 99.93 1 FBXO7 99.98 1 FITM2 99.99 1 FOXG1 99.91 1 FOXRED1 100.00 1 FTL 99.99 1 FUCA1 98.72 1 FUS 99.93 1 GABRB2 99.92 1 GAMT 100.00 1 GBA1 96.92 1 GBE1 99.73 1 GCDH 100.00 1 GCH1 99.94 1 GFAP 99.99 1 GFM2 99.87 1 GIGYF2 99.94 1 GJC2 100.00 1 GLB1 100.00 1 GRID2 100.00 1 GM2A 100.00 1 GNAL 100.00 1 GNAO1 99.86 1 GNB1 100.00 1 GPR88 100.00 1 GRIN1 100.00 1 GRIN2B 99.99 1 GRN 100.00 1 GSX2 100.00 1 GTPBP2 99.98 1 HEXA 99.99 1 HIBCH 99.70 1 HPRT1 97.80 1 HSD17B10 99.98 1 HTRA2 99.99 1 HTT 99.98 1 IFIH1 99.84 1 IREB2 99.90 1 IRF2BPL 99.21 1 JAM2 91.82 1 JPH3 100.00 1 KCNA4 100.00 1 KCNMA1 99.89 1 KCNQ2 100.00 1 KCTD17 100.00 1 KMT2B 99.99 1 LIPT1 99.89 1 LIPT2 99.99 1 LRP10 99.99 1 LRPPRC 99.80 1 LRRK2 99.44 1 LYST 99.87 1 MAPT 99.80 1 MAT1A 99.70 1 MCOLN1 100.00 1 MDH2 99.54 1 MECP2 99.95 1 MECR 99.63 1 MED20 99.99 1 MICU1 99.56 1 MMADHC 99.76 1 MPV17 99.98 1 MRE11 99.93 1 MRPS34 100.00 1 MYBPC1 99.77 1 MYORG 99.99 1 NAXD 99.99 1 NDUFA1 99.93 1 NDUFA10 99.98 1 NDUFA12 99.21 1 NDUFA9 100.00 1 NDUFAF4 99.95 1 NDUFAF6 99.86 1 NDUFS1 99.79 1 NDUFS3 100.00 1 NDUFS7 99.99 1 NDUFS8 100.00 1 NHLRC2 99.83 1 NKX2-1 100.00 1 NKX6-2 100.00 1 NPC1 99.99 1 NPC2 100.00 1 NTNG2 99.98 1 NUP62 100.00 1 PANK2 99.99 1 PARK7 99.93 1 PCCA 99.90 1 PCCB 99.97 1 PCDH12 100.00 1 PCDH19 99.98 1 PDE10A 87.37 1 PDE8B 99.98 1 PDGFB 99.99 1 PDGFRB 99.99 1 PDHA1 99.04 1 PDHX 99.64 1 PEAR1 99.89 1 PEX16 99.94 1 PINK1 99.69 1 PLA2G6 99.98 1 PLEKHG2 99.99 1 PLP1 99.98 1 PMPCB 99.94 1 PNKD 100.00 1 PNKP 100.00 1 PNPLA8 99.92 1 PNPT1 99.56 1 PODXL 93.29 1 POLG 100.00 1 POLR3A 99.97 1 PON1 99.70 1 PRKN 99.99 1 PRKRA 99.94 1 PRNP 100.00 1 PRRT2 99.97 1 PTRHD1 100.00 1 PTS 99.93 1 QDPR 99.92 1 RAB11B 100.00 1 RAB39B 99.99 1 RAD51 90.17 1 RELN 99.98 1 REPS1 99.93 1 RHOBTB2 100.00 1 RIC3 100.00 1 RNF216 99.99 1 SCN11A 99.94 1 SCN4A 99.98 1 SCN8A 99.77 1 SCP2 94.94 1 SDHA 99.98 1 SDHAF1 99.99 1 SDHD 82.93 1 SEPSECS 99.78 1 SERAC1 99.90 1 SETX 99.97 1 SGCE 93.12 1 SLC18A2 100.00 1 SLC19A3 99.95 1 SLC20A2 99.95 1 SLC25A42 99.99 1 SLC2A1 99.93 1 SLC30A10 99.99 1 SLC30A9 99.75 1 SLC39A14 92.87 1 SLC44A1 99.90 1 SLC6A3 99.96 1 SLC6A8 99.99 1 SMPD1 100.00 1 SNCA 99.97 1 SNCAIP 99.99 1 SPG11 99.89 1 SPR 99.99 1 SQSTM1 100.00 1 STUB1 99.99 1 SUCLA2 99.96 1 SUOX 100.00 1 SURF1 100.00 1 SYNJ1 99.91 1 SYT1 99.70 1 TAF1 99.84 1 TANGO2 99.85 1 TBC1D24 100.00 1 TENM4 99.99 1 TH 99.99 1 THAP1 99.96 1 TIMM8A 100.00 1 TOR1A 100.00 1 TPI1 99.95 1 TPK1 99.96 1 TRAK1 99.98 1 TRAPPC11 99.93 1 TRAPPC12 99.96 1 TRIT1 99.25 1 TSEN2 99.98 1 TSFM 100.00 1 TUBB4A 100.00 1 TXN2 99.88 1 UBA5 99.95 1 UBTF 99.99 1 UCHL1 99.99 1 UFM1 99.25 1 UGDH 99.77 1 UQCRQ 99.96 1 VAC14 99.91 1 VAMP2 100.00 1 VCP 99.99 1 VPS13A 99.68 1 VPS13C 99.65 1 VPS13D 99.96 1 VPS16 100.00 1 VPS35 99.83 1 WARS2 97.72 1 WDR45 99.99 1 WDR73 99.92 1 XK 99.98 1 XPR1 99.13 1 YY1 100.00 1 ZC4H2 99.98 1 ZNF142 100.00 1 -
Movement Disorders - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 0 ABAT 100.00 0 ACTB 100.00 0 ACTL6B 100.00 0 ADAR 100.00 0 ADCY5 94.82 0 ADPRS 97.19 0 AFG3L2 95.73 0 AGTPBP1 97.48 0 AIMP1 100.00 0 ALDH5A1 91.82 0 ALG13 99.52 0 ALG6 100.00 0 ALS2 100.00 0 AMT 100.00 0 ANO3 99.99 0 AOPEP 98.17 0 AP3D1 100.00 0 AP4M1 100.00 0 AP5Z1 100.00 0 APTX 100.00 0 ARG1 100.00 0 ARHGEF9 100.00 0 ARSA 100.00 0 ARV1 100.00 0 ARX 76.27 0 ASAH1 100.00 0 ASNS 100.00 0 ASS1 100.00 0 ATAD1 100.00 0 ATCAY 100.00 0 ATM 100.00 0 ATN1 100.00 0 ATP13A2 99.13 0 ATP1A2 99.91 0 ATP1A3 100.00 0 ATP6AP2 98.93 0 ATP7B 100.00 0 ATP8A2 100.00 0 ATXN2 97.08 0 AUH 98.84 0 BCAP31 100.00 0 BCKDHA 100.00 0 BCKDHB 100.00 0 BCS1L 100.00 0 BSCL2 100.00 0 BTK 100.00 0 C19ORF12 100.00 0 C9ORF72 100.00 0 CA8 100.00 0 CACNA1A 100.00 0 CACNA1B 95.99 0 CACNA1E 99.97 0 CACNA1G 100.00 0 CACNB4 100.00 0 CARS2 95.22 0 CBS 100.00 0 CDKL5 99.33 0 CEP290 99.99 0 CHCHD2 100.00 0 CHMP2B 100.00 0 CHRNA2 99.97 0 CHRNA4 99.98 0 CHRNB2 100.00 0 CIZ1 99.96 0 CLCN2 100.00 0 CLCN3 100.00 0 CLCN6 100.00 0 CLPB 100.00 0 CLTC 100.00 0 CNTNAP1 100.00 0 COASY 100.00 0 COL6A3 100.00 0 COQ8A 100.00 0 COQ9 100.00 0 COX10 100.00 0 COX15 100.00 0 COX20 100.00 0 CP 99.98 0 CRAT 100.00 0 CRH 100.00 0 CRLF1 89.13 0 CSF1R 100.00 0 CSTB 100.00 0 CTC1 100.00 0 CTDP1 90.20 0 CTNNB1 100.00 0 CTSA 100.00 0 CTSD 100.00 0 CTSF 89.18 0 CUL4B 98.64 0 CWF19L1 100.00 0 CYB5R3 95.77 0 CYFIP2 100.00 0 CYP27A1 99.38 0 DARS1 100.00 0 DBT 100.00 0 DCAF17 99.11 0 DCC 100.00 0 DCTN1 100.00 0 DDC 100.00 0 DEGS1 100.00 0 DEPDC5 100.00 0 DHDDS 100.00 0 DHX30 100.00 0 DLAT 100.00 0 DLD 100.00 0 DMXL2 99.99 0 DNAJB2 100.00 0 DNAJC12 100.00 0 DNAJC13 100.00 0 DNAJC19 100.00 0 DNAJC5 100.00 0 DNAJC6 100.00 0 DNAL4 100.00 0 DNM1L 100.00 0 DNMT1 99.83 0 EARS2 100.00 0 ECHS1 100.00 0 EEF1A2 98.47 0 ELOVL4 100.00 0 EPRS1 100.00 0 ETHE1 100.00 0 FA2H 92.84 0 FARS2 100.00 0 FASTKD2 100.00 0 FBXL4 100.00 0 FBXO7 100.00 0 FGF14 100.00 0 FITM2 100.00 0 FOLR1 100.00 0 FOXG1 87.63 0 FOXRED1 100.00 0 FRRS1L 87.33 0 FTL 100.00 0 FUCA1 99.67 0 FUS 100.00 0 FXN 96.07 0 GABRA2 100.00 0 GABRB2 100.00 0 GALT 100.00 0 GAMT 98.07 0 GBA1 100.00 0 GBE1 100.00 0 GCDH 100.00 0 GCH1 98.16 0 GFAP 100.00 0 GFM1 100.00 0 GFM2 99.99 0 GJC2 88.27 0 GLB1 100.00 0 GLDC 97.21 0 GLRA1 100.00 0 GLRB 100.00 0 GM2A 100.00 0 GNAL 100.00 0 GNAO1 100.00 0 GNB1 100.00 0 GOSR2 100.00 0 GPHN 100.00 0 GPR88 77.04 0 GRID2 100.00 0 GRIN1 100.00 0 GRIN2B 100.00 0 GRN 100.00 0 GSX2 100.00 0 GTPBP2 99.48 0 HECW2 100.00 0 HEXA 100.00 0 HEXB 99.87 0 HIBCH 100.00 0 HPRT1 97.15 0 HSD17B10 100.00 0 HTT 99.18 0 IFIH1 100.00 0 IREB2 100.00 0 IRF2BPL 99.88 0 IVD 100.00 0 JAM2 100.00 0 JPH3 100.00 0 KCNA1 100.00 0 KCNA2 100.00 0 KCNA4 100.00 0 KCNC3 78.67 0 KCND3 100.00 0 KCNMA1 100.00 0 KCNQ2 100.00 0 KCNT1 99.92 0 KCTD17 95.63 0 KCTD7 99.64 0 KIF1C 100.00 0 KIF5A 100.00 0 KMT2B 96.75 0 L2HGDH 100.00 0 LIAS 100.00 0 LIPT1 100.00 0 LIPT2 92.08 0 LMNB1 98.51 0 LRPPRC 100.00 0 LRRK2 100.00 0 LYST 100.00 0 MAPT 100.00 0 MARS2 100.00 0 MCEE 100.00 0 MCOLN1 98.10 0 MDH2 100.00 0 MECP2 100.00 0 MECR 100.00 0 MED20 100.00 0 MEF2C 100.00 0 MFSD8 100.00 0 MICU1 100.00 0 MMAA 100.00 0 MMAB 100.00 0 MMADHC 100.00 0 MMUT 100.00 0 MPV17 100.00 0 MRE11 100.00 0 MRPS34 99.28 0 MTHFR 100.00 0 MTR 100.00 0 MTRFR 100.00 0 MTRR 100.00 0 MYBPC1 100.00 0 MYORG 100.00 0 NALCN 100.00 0 NAXD 100.00 0 NDUFA1 100.00 0 NDUFA10 99.52 0 NDUFA12 100.00 0 NDUFA2 100.00 0 NDUFA9 100.00 0 NDUFAF2 100.00 0 NDUFAF4 100.00 0 NDUFAF5 100.00 0 NDUFAF6 95.34 0 NDUFS1 100.00 0 NDUFS3 100.00 0 NDUFS4 100.00 0 NDUFS7 100.00 0 NDUFS8 100.00 0 NDUFV1 100.00 0 NEU1 100.00 0 NGLY1 100.00 0 NHLRC2 100.00 0 NKX2-1 89.99 0 NKX6-2 70.62 0 NPC1 100.00 0 NPC2 100.00 0 NTN1 94.10 0 NTNG2 91.87 0 NUP62 100.00 0 MED12 100.00 0 OPA3 100.00 0 PAH 100.00 0 PANK2 95.70 0 PARK7 100.00 0 PODXL 96.85 0 PCBD1 92.74 0 PCCA 100.00 0 PCCB 100.00 0 PCDH12 100.00 0 PCDH19 100.00 0 PDE10A 100.00 0 PDE2A 100.00 0 PDE8B 97.56 0 PDGFB 100.00 0 PDGFRB 100.00 0 PDHA1 100.00 0 PDHB 100.00 0 PDHX 100.00 0 PDYN 100.00 0 PEX16 100.00 0 PGK1 100.00 0 PIGP 100.00 0 PINK1 91.10 0 PLA2G6 100.00 0 PLEKHG2 100.00 0 PLP1 100.00 0 PMM2 100.00 0 PMPCB 100.00 0 PNKD 100.00 0 PNKP 100.00 0 PNPLA8 100.00 0 PNPT1 100.00 0 POLG 100.00 0 POLR1C 100.00 0 POLR3A 100.00 0 PPT1 100.00 0 PRICKLE1 100.00 0 PRKCG 100.00 0 PRKN 100.00 0 PRKRA 100.00 0 PRNP 100.00 0 PRRT2 100.00 0 PTRHD1 100.00 0 PTS 100.00 0 PUM1 100.00 0 PURA 88.25 0 QDPR 99.38 0 RAB11B 100.00 0 RAB39B 100.00 0 RAD51 100.00 0 RELN 100.00 0 REPS1 100.00 0 RHOBTB2 100.00 0 RNF216 100.00 0 SACS 100.00 0 SCARB2 100.00 0 SCN11A 99.99 0 SCN1A 100.00 0 SCN2A 100.00 0 SCN4A 100.00 0 SCN8A 100.00 0 SCP2 100.00 0 SCYL1 100.00 0 SDHA 98.70 0 SDHAF1 96.31 0 SDHD 100.00 0 SEPSECS 100.00 0 SERAC1 100.00 0 SETD5 100.00 0 SETX 100.00 0 SGCE 100.00 0 SLC16A2 100.00 0 SLC18A2 100.00 0 SLC19A3 99.96 0 SLC1A3 100.00 0 SLC20A2 100.00 0 SLC25A19 100.00 0 SLC25A42 99.96 0 SLC2A1 100.00 0 SLC30A10 100.00 0 SLC30A9 100.00 0 SLC39A14 99.95 0 SLC39A8 99.72 0 SLC44A1 97.36 0 SLC6A1 100.00 0 SLC6A3 100.00 0 SLC6A5 100.00 0 SLC6A8 96.54 0 SLC9A6 97.84 0 SMPD1 100.00 0 SNCA 100.00 0 SPG11 100.00 0 SPOP 100.00 0 SPR 97.94 0 SPTBN2 100.00 0 SQSTM1 95.44 0 SRD5A3 98.74 0 ST3GAL5 92.43 0 STUB1 99.46 0 STXBP1 100.00 0 SUCLA2 100.00 0 SUCLG1 99.97 0 SUMF1 100.00 0 SUOX 100.00 0 SURF1 92.90 0 SYNE1 100.00 0 SYNJ1 100.00 0 SYT1 100.00 0 TACO1 99.96 0 TAF1 100.00 0 TANGO2 100.00 0 TARDBP 100.00 0 TBC1D24 100.00 0 TBK1 100.00 0 TBL1XR1 100.00 0 TENM4 100.00 0 TGM6 100.00 0 TH 100.00 0 THAP1 100.00 0 TIMM8A 100.00 0 TMEM240 100.00 0 TOR1A 100.00 0 TPI1 100.00 0 TPK1 100.00 0 TRAK1 100.00 0 TRAPPC11 100.00 0 TRAPPC12 100.00 0 TREM2 100.00 0 TRIT1 100.00 0 TSC1 100.00 0 TSC2 100.00 0 TSEN2 100.00 0 TSEN54 94.95 0 TSFM 92.64 0 TTPA 87.42 0 TUBB4A 100.00 0 TXN2 100.00 0 TYROBP 100.00 0 UBA5 100.00 0 UBQLN2 99.91 0 UBR4 99.78 0 UBTF 100.00 0 UFM1 100.00 0 UGDH 100.00 0 UNC13A 99.92 0 UQCRQ 100.00 0 VAC14 100.00 0 VAMP1 100.00 0 VAMP2 100.00 0 VCP 98.45 0 VPS13A 100.00 0 VPS13C 100.00 0 VPS13D 100.00 0 VPS16 100.00 0 VPS35 100.00 0 VPS41 100.00 0 VPS4A 100.00 0 VWA3B 100.00 0 WARS2 100.00 0 WDR45 100.00 0 WDR73 100.00 0 WDR81 100.00 0 WWOX 100.00 0 XK 99.86 0 XPA 99.77 0 XPC 100.00 0 XPR1 100.00 0 YY1 100.00 0 ZC4H2 100.00 0 ZFYVE26 100.00 0 ZNF142 100.00 0 -
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 -
Myopathy (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABHD5 99.64 1 ACAD9 99.97 1 ACADM 99.64 1 ACADS 100.00 1 ACADVL 99.94 1 ACTA1 99.99 1 ACTN2 99.96 1 ADSS1 99.99 1 AGK 99.98 1 AGL 99.92 1 AGRN 99.83 1 ALDOA 100.00 1 ALG14 99.97 1 ALG2 99.95 1 ANO5 99.96 1 ANXA11 99.88 1 ASCC1 91.38 1 ATP1A2 99.96 1 ATP2A1 99.97 1 B3GALNT2 94.03 1 B4GAT1 99.95 1 BAG3 100.00 1 BIN1 100.00 1 BVES 99.97 1 CACNA1S 99.92 1 CAP2 99.97 1 CAPN3 99.98 1 CASQ1 99.91 1 CAV3 99.85 1 CAVIN1 99.99 1 CFL2 99.81 1 CHAT 99.77 1 CHD7 99.96 1 CHKB 99.89 1 CHRNA1 99.96 1 CHRNB1 99.99 1 CHRND 100.00 1 CHRNE 99.95 1 CHRNG 99.87 1 CLCN1 99.97 1 CNBP 99.97 1 COL12A1 99.95 1 COL13A1 99.56 1 COL25A1 99.96 1 COL6A1 100.00 1 COL6A2 99.96 1 COL6A3 99.99 1 COLQ 99.97 1 COX6A2 98.51 1 CPT2 99.99 1 CRPPA 99.59 1 CRYAB 99.98 1 DAG1 100.00 1 DCST2 99.92 1 DES 100.00 1 DGUOK 99.76 1 DMD 99.41 1 DMPK 99.98 1 DNAJB6 99.91 1 DNM2 99.96 1 DNMT3B 99.98 1 DOK7 99.73 1 DPAGT1 99.96 1 DPM2 100.00 1 DPM3 100.00 1 DYSF 99.99 1 EMD 97.92 1 ENO3 99.98 1 ETFA 99.84 1 ETFDH 99.76 1 FAM111B 99.99 1 FDX2 99.94 1 FHL1 99.92 1 FKRP 99.99 1 FKTN 99.91 1 FLAD1 100.00 1 FLNC 99.99 1 FXR1 99.81 1 GAA 99.99 1 GBE1 99.84 1 GFER 99.96 1 GFPT1 99.90 1 GGPS1 99.89 1 GMPPB 99.95 1 GNE 99.98 1 GYG1 99.97 1 GYS1 99.98 1 HACD1 99.78 1 HADH 99.97 1 HADHA 99.96 1 HADHB 99.97 1 HNRNPA1 100.00 1 HNRNPA2B1 99.95 1 HNRNPDL 99.92 1 INPP5K 99.99 1 ISCU 99.94 1 ITGA7 99.98 1 ITGA9 99.80 1 JAG2 98.50 1 KBTBD13 100.00 1 KCNJ2 100.00 1 KIF21A 99.80 1 KLHL40 100.00 1 KLHL41 99.96 1 KLHL9 100.00 1 KY 98.80 1 LAMA2 99.97 1 LAMB2 99.99 1 LAMP2 98.98 1 LARGE1 99.99 1 LDB3 98.02 1 LDHA 99.77 1 LIMS2 99.65 1 LMNA 99.98 1 LMOD3 99.96 1 LPIN1 99.97 1 LRP4 99.98 1 MAP3K20 99.92 1 MATR3 99.87 1 MB 99.99 1 MEGF10 99.90 1 MICU1 99.98 1 MLIP 99.94 1 MSTO1 98.87 1 MTM1 99.36 1 MUSK 99.97 1 MYBPC1 99.90 1 MYBPC3 99.98 1 MYH14 99.79 1 MYH2 99.97 1 MYH3 99.96 1 MYH7 100.00 1 MYL1 99.93 1 MYL2 99.98 1 MYMX 100.00 1 MYO18B 99.98 1 MYO9A 99.91 1 MYOD1 99.82 1 MYOT 99.98 1 MYPN 99.97 1 NEB 99.77 1 NPL 99.95 1 OPA1 99.87 1 ORAI1 97.73 1 PABPN1 99.67 1 PAX7 99.96 1 PFKM 99.82 1 PGAM2 100.00 1 PGK1 99.71 1 PGM1 99.89 1 PHKA1 99.57 1 PHKB 99.79 1 PHOX2A 96.75 1 PLEC 99.98 1 PNPLA2 99.99 1 PNPLA8 99.81 1 POGLUT1 99.91 1 POLG 99.98 1 POLG2 99.68 1 POMGNT1 99.98 1 POMGNT2 100.00 1 POMK 99.98 1 POMT1 99.91 1 POMT2 99.93 1 POPDC3 99.93 1 PREPL 99.96 1 PRKAG2 99.92 1 PYGM 99.98 1 PYROXD1 99.83 1 RAPSN 99.99 1 RBCK1 99.99 1 RXYLT1 99.53 1 RYR1 99.92 1 SCN4A 99.77 1 SELENON 95.81 1 SGCA 99.99 1 SGCB 99.62 1 SGCD 99.94 1 SGCG 99.87 1 SIL1 99.99 1 SLC18A3 100.00 1 SLC22A5 99.99 1 SLC25A20 99.90 1 SLC25A4 99.96 1 SLC5A7 99.97 1 SMCHD1 99.82 1 SMPX 99.37 1 SPEG 99.97 1 SQSTM1 100.00 1 STAC3 99.94 1 STIM1 99.97 1 SVIL 99.94 1 SYNE1 99.96 1 SYNE2 99.85 1 SYT2 99.89 1 TCAP 100.00 1 TIA1 99.56 1 TK2 99.99 1 TMEM126B 99.68 1 TMEM43 99.98 1 TNNC2 99.95 1 TNNI2 100.00 1 TNNT1 99.82 1 TNNT3 100.00 1 TNPO3 99.95 1 TNXB 99.95 1 TOP3A 99.95 1 TOR1AIP1 99.84 1 TPI1 99.95 1 TPM2 99.93 1 TPM3 99.95 1 TRAPPC11 99.59 1 TRDN 99.03 1 TRIM32 100.00 1 TRIP4 99.91 1 TRMT5 99.83 1 TTN 99.96 1 TUBB3 100.00 1 TWNK 100.00 1 UNC45B 99.93 1 VAMP1 99.70 1 VCP 99.92 1 VMA21 97.04 1 VWA1 91.35 1 -
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 -
Neuromuscular disorders (232 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments NEB 88.70 0 NM_001271208.1 SELENON 92.30 0 NM_020451.2 TSEN54 97.70 0 NM_207346.2 DOK7 97.90 0 NM_173660.4 ORAI1 97.90 0 NM_032790.3 CRPPA 98.60 0 NM_001101426.3 PGAM2 98.80 0 NM_000290.3 AGRN 99.00 0 NM_198576.3 HSPB1 99.00 0 NM_001540.4 POMT2 99.00 0 NM_013382.5 CACNA1H 99.10 0 NM_021098.2 RYR1 99.10 0 NM_000540.2 SPTBN4 99.30 0 NM_020971.2 TNNT1 99.50 0 NM_003283.5 HSPG2 99.50 0 NM_005529.6 CAPN3 99.60 0 NM_000070.2 GMPPB 99.60 0 NM_013334.3 ACADVL 99.60 0 NM_000018.3 LAMA5 99.60 0 NM_005560.4 B3GALNT2 99.70 0 NM_152490.4 SCN4A 99.70 0 NM_000334.4 ISCU 99.70 0 NM_213595.3 MATR3 99.70 0 NM_199189.2 SLC16A1 99.80 0 NM_003051.3 COL6A1 99.80 0 NM_001848.2 CHD8 99.80 0 NM_001170629.1 RAPSN 99.80 0 NM_005055.4 CACNA1A 99.80 0 NM_001127221.1 MYH7B 99.80 0 NM_024729.3 DCST2 99.80 0 NM_144622.2 CHRNE 99.80 0 NM_000080.3 SGCG 99.90 0 NM_000231.2 DYSF 99.90 0 NM_003494.3 MYL2 99.90 0 NM_000432.3 CHRNA1 99.90 0 NM_000079.3 ECEL1 99.90 0 NM_004826.3 PNPLA2 99.90 0 NM_020376.3 FXR1 99.90 0 NM_005087.3 TTN 99.90 0 NM_133378.4 PNPLA8 99.90 0 NM_015723.4 ATP2A1 99.90 0 NM_173201.3 COL6A2 99.90 0 NM_001849.3 MYBPC3 99.90 0 NM_000256.3 VCP 99.90 0 NM_007126.4 TRDN 99.90 0 NM_006073.3 GYS1 99.90 0 NM_002103.4 ALG13 99.90 0 NM_001099922.2 MYO18B 99.90 0 NM_032608.6 TK2 99.90 0 NM_004614.4 PHKB 99.90 0 NM_000293.2 SYT2 99.90 0 NM_177402.4 LDHA 99.90 0 NM_005566.3 LMNA 99.90 0 NM_170707.3 CFL2 99.90 0 NM_021914.7 TIA1 100.00 0 NM_022173.3 MYF6 100.00 0 NM_002469.2 KCNJ18 100.00 0 NM_001194958.2 DPM1 100.00 0 NM_003859.2 HNRNPDL 100.00 0 NM_031372.3 TPM2 100.00 0 NM_003289.3 CACNA1S 100.00 0 NM_000069.2 FLNC 100.00 0 NM_001458.4 CHRNB1 100.00 0 NM_000747.2 CCDC78 100.00 0 NM_001031737.2 ETFA 100.00 0 NM_000126.3 DNAJB6 100.00 0 NM_058246.3 DMPK 100.00 0 NM_001081563.2 CORIN 100.00 0 NM_002334.3 HACD1 100.00 0 NM_014241.3 EMD 100.00 0 NM_000117.2 TRIP4 100.00 0 NM_016213.4 MYL1 100.00 0 NM_079420.2 ETFDH 100.00 0 NM_004453.3 FKRP 100.00 0 NM_024301.4 DNA2 100.00 0 NM_001080449.2 PLEC 100.00 0 NM_000445.4 PABPN1 100.00 0 NM_004643.3 SPEG 100.00 0 NM_005876.4 ITGA7 100.00 0 NM_002206.2 POMT1 100.00 0 NM_007171.3 GFPT1 100.00 0 NM_002056.3 SYNE1 100.00 0 NM_033071.3 LPIN1 100.00 0 NM_145693.3 ENO3 100.00 0 NM_053013.3 GOLGA2 100.00 0 NM_004486.4 CHKB 100.00 0 NM_005198.4 AMPD1 100.00 0 NM_000036.2 ACTA1 100.00 0 NM_001100.3 ACVR1 100.00 0 NM_001105.4 HADHB 100.00 0 NM_000183.2 KCNA1 100.00 0 NM_000217.2 ANO5 100.00 0 NM_213599.2 INPP5K 100.00 0 NM_016532.3 SMCHD1 100.00 0 NM_015295.2 ADSS1 100.00 0 NM_199165.2 TRIM63 100.00 0 NM_032588.3 COL13A1 100.00 0 NM_001130103.1 TOP3A 100.00 0 NM_004618.4 COL12A1 100.00 0 NM_004370.5 MYPN 100.00 0 NM_032578.3 SYNE2 100.00 0 NM_182914.2 ACTN2 100.00 0 NM_001103.3 PREPL 100.00 0 NM_006036.4 MYH3 100.00 0 NM_002470.3 SGCB 100.00 0 NM_000232.4 PHKA1 100.00 0 NM_002637.3 CLCN1 100.00 0 NM_000083.2 KBTBD13 100.00 0 NM_001101362.2 CHAT 100.00 0 NM_020549.4 AGL 100.00 0 NM_000642.2 MUSK 100.00 0 NM_005592.3 CASQ1 100.00 0 NM_001231.4 ACADS 100.00 0 NM_000017.3 PYGM 100.00 0 NM_005609.3 GAA 100.00 0 NM_000152.4 TRAPPC11 100.00 0 NM_021942.5 MYO9A 100.00 0 NM_006901.3 COL6A3 100.00 0 NM_004369.3 DMD 100.00 0 NM_004006.2 MYH7 100.00 0 NM_000257.3 MYBPC1 100.00 0 NM_002465.3 RYR3 100.00 0 NM_001036.4 ABHD5 100.00 0 NM_016006.5 ACAD9 100.00 0 NM_014049.4 ACADL 100.00 0 NM_001608.3 ACADM 100.00 0 NM_000016.5 ALDOA 100.00 0 NM_000034.3 ALG14 100.00 0 NM_144988.3 ALG2 100.00 0 NM_033087.3 ATP1A2 100.00 0 NM_000702.3 B4GAT1 100.00 0 NM_006876.2 BAG3 100.00 0 NM_004281.3 BIN1 100.00 0 NM_139343.2 BVES 100.00 0 NM_007073.4 CAV3 100.00 0 NM_033337.2 CAVIN1 100.00 0 NM_012232.5 CHRND 100.00 0 NM_000751.2 CHRNG 100.00 0 NM_005199.4 CNTN1 100.00 0 NM_001843.3 COLQ 100.00 0 NM_005677.3 CPT2 100.00 0 NM_000098.2 CRYAB 100.00 0 NM_001885.2 DAG1 100.00 0 NM_004393.5 DES 100.00 0 NM_001927.3 DNM2 100.00 0 NM_001005360.2 DOLK 100.00 0 NM_014908.3 DPAGT1 100.00 0 NM_001382.3 DPM2 100.00 0 NM_003863.3 DPM3 100.00 0 NM_153741.1 ETFB 100.00 0 NM_001985.2 EXOSC3 100.00 0 NM_016042.3 CFH 100.00 0 NM_001449.4 FKBP14 100.00 0 NM_017946.3 FKTN 100.00 0 NM_001079802.1 FLAD1 100.00 0 NM_025207.4 GBE1 100.00 0 NM_000158.3 GGPS1 100.00 0 NM_001037277.1 GNE 100.00 0 NM_001128227.2 GYG1 100.00 0 NM_004130.3 HADH 100.00 0 NM_005327.4 HADHA 100.00 0 NM_000182.4 HINT1 100.00 0 NM_005340.6 HNRNPA1 100.00 0 NM_031157.3 HNRNPA2B1 100.00 0 NM_031243.2 HRAS 100.00 0 NM_005343.3 HSPB8 100.00 0 NM_014365.2 KCNE3 100.00 0 NM_005472.4 KCNJ2 100.00 0 NM_000891.2 KLHL40 100.00 0 NM_152393.3 KLHL41 100.00 0 NM_006063.2 KLHL9 100.00 0 NM_018847.3 KY 100.00 0 NM_178554.5 LAMA2 100.00 0 NM_000426.3 LAMB2 100.00 0 NM_002292.3 LAMP2 100.00 0 NM_002294.2 LARGE1 100.00 0 NM_004737.6 LDB3 100.00 0 NM_001080116.1 LIMS2 100.00 0 NM_001136037.2 LMOD3 100.00 0 NM_198271.4 MAP3K20 100.00 0 NM_016653.2 MB 100.00 0 NM_005368.2 MEGF10 100.00 0 NM_032446.2 MSTN 100.00 0 NM_005259.2 MTM1 100.00 0 NM_000252.2 MTMR14 100.00 0 NM_022485.4 MYH2 100.00 0 NM_017534.5 MYH8 100.00 0 NM_002472.2 MYMK 100.00 0 NM_001080483.2 MYOT 100.00 0 NM_006790.2 MED12 100.00 0 NM_015560.2 P4HA1 100.00 0 NM_001017962.2 PAX7 100.00 0 NM_002584.2 PDHA1 100.00 0 NM_000284.3 PFKM 100.00 0 NM_000289.5 PGK1 100.00 0 NM_000291.3 PGM1 100.00 0 NM_002633.2 POGLUT1 100.00 0 NM_152305.2 POLG 100.00 0 NM_002693.2 POLG2 100.00 0 NM_007215.3 POMGNT1 100.00 0 NM_017739.3 POMGNT2 100.00 0 NM_032806.5 POMK 100.00 0 NM_032237.4 POPDC3 100.00 0 NM_022361.4 PRKAG2 100.00 0 NM_016203.3 PYROXD1 100.00 0 NM_024854.4 RBCK1 100.00 0 NM_031229.3 RXYLT1 100.00 0 NM_014254.2 SBDS 100.00 0 NM_016038.3 SGCA 100.00 0 NM_000023.3 SGCD 100.00 0 NM_000337.5 SIL1 100.00 0 NM_022464.4 SLC18A3 100.00 0 NM_003055.2 SLC22A5 100.00 0 NM_003060.3 SLC25A20 100.00 0 NM_000387.5 SLC5A7 100.00 0 NM_021815.4 SNAP25 100.00 0 NM_130811.3 SQSTM1 100.00 0 NM_003900.4 STAC3 100.00 0 NM_145064.2 STIM1 100.00 0 NM_003156.3 WWTR1 100.00 0 NM_000116.4 TCAP 100.00 0 NM_003673.3 TMEM126B 100.00 0 NM_018480.5 TMEM43 100.00 0 NM_024334.2 TNNI2 100.00 0 NM_003282.3 TNNT3 100.00 0 NM_006757.3 TNPO3 100.00 0 NM_012470.3 TOR1AIP1 100.00 0 NM_001267578.1 TPM3 100.00 0 NM_152263.3 TRIM32 100.00 0 NM_012210.3 UNC45B 100.00 0 NM_173167.3 VAMP1 100.00 0 NM_014231.4 VMA21 100.00 0 NM_001017980.3 -
Neuromuscular disorders - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABHD5 99.98 1 ACAD9 100.00 1 ACADL 99.11 1 ACADM 96.14 1 ACADS 99.99 1 ACADVL 100.00 1 ACTA1 99.99 1 ACTN2 99.99 1 ACVR1 99.94 1 ADCY6 99.98 1 ADGRG6 99.91 1 ADSS1 99.99 1 AGL 97.67 1 AGRN 99.99 1 ALDOA 100.00 1 ALG13 99.44 1 ALG14 99.34 1 ALG2 100.00 1 AMPD1 98.94 1 ANO5 99.85 1 APOO 99.69 1 ASAH1 99.90 1 ASCC1 90.99 1 ASPH 99.92 1 ATP2A1 99.83 1 B3GALNT2 92.79 1 B4GAT1 100.00 1 BAG3 100.00 1 BET1 99.38 1 BIN1 99.98 1 BSCL2 99.99 1 BVES 99.83 1 CACNA1H 100.00 1 CACNA1S 99.96 1 CAPN3 99.99 1 CASQ1 99.62 1 CAV3 100.00 1 CAVIN1 100.00 1 CCDC78 100.00 1 CFL2 99.67 1 CHAT 99.74 1 CHCHD10 100.00 1 CHKB 100.00 1 CHRNA1 99.82 1 CHRNB1 99.99 1 CHRND 100.00 1 CHRNE 100.00 1 CHRNG 100.00 1 CLCN1 100.00 1 CLN3 99.92 1 CLPP 99.99 1 CNTN1 99.35 1 COL12A1 99.85 1 COL13A1 99.95 1 COL4A1 99.99 1 COL6A1 99.99 1 COL6A2 100.00 1 COL6A3 99.99 1 COL9A3 99.99 1 COLQ 99.98 1 CPT2 99.65 1 CRPPA 99.98 1 CRYAB 100.00 1 DAG1 100.00 1 DES 100.00 1 DGUOK 99.93 1 DHX16 99.98 1 DMD 99.76 1 DMPK 99.93 1 DNAJB6 99.97 1 DNM2 99.99 1 DNMT3B 99.98 1 DOK7 99.97 1 DOLK 100.00 1 DPAGT1 100.00 1 DPM1 90.68 1 DPM2 100.00 1 DPM3 99.98 1 DYSF 99.95 1 ECEL1 100.00 1 EMD 99.93 1 ENO3 100.00 1 EPG5 99.95 1 ETFA 99.88 1 ETFB 100.00 1 ETFDH 99.82 1 FAM111B 99.98 1 FDX2 99.99 1 CFH 99.97 1 FKBP14 99.97 1 FKRP 100.00 1 FKTN 99.94 1 FLAD1 99.98 1 FLNC 99.99 1 FXR1 99.82 1 GAA 100.00 1 GBE1 99.73 1 GFER 100.00 1 GFPT1 99.79 1 GGPS1 99.95 1 GLDN 99.98 1 GLE1 99.99 1 GMPPB 100.00 1 GNE 99.99 1 GOLGA2 100.00 1 GOSR2 98.92 1 GYG1 99.85 1 GYS1 99.98 1 HACD1 99.98 1 HADHA 99.98 1 HADHB 99.82 1 HEXB 99.91 1 HNRNPA1 62.92 1 HNRNPA2B1 99.90 1 HNRNPDL 99.98 1 HRAS 100.00 1 HSPB1 99.97 1 HSPB3 99.97 1 HSPB8 100.00 1 HSPG2 99.87 1 HTRA2 99.99 1 INPP5K 99.94 1 ISCU 99.74 1 ITGA7 99.87 1 KBTBD13 100.00 1 KLHL40 99.96 1 KLHL41 99.96 1 KLHL9 100.00 1 KY 99.97 1 LAMA2 99.95 1 LAMA5 99.99 1 LAMB2 99.99 1 LAMP2 98.95 1 LARGE1 100.00 1 LARS2 99.96 1 LAS1L 99.97 1 LDB3 99.91 1 LDHA 99.94 1 LGI4 99.98 1 LIMS2 99.97 1 LMNA 99.96 1 LMOD3 99.91 1 LOXL4 99.92 1 LPIN1 99.96 1 LRIF1 99.82 1 CORIN 99.89 1 MAP3K20 99.84 1 MB 99.99 1 MCOLN1 100.00 1 MEGF10 99.91 1 MET 99.97 1 MICU1 99.56 1 MPDU1 99.97 1 MRPS25 99.97 1 MSTN 99.96 1 MSTO1 76.34 1 MTM1 99.76 1 MTMR14 99.99 1 MUSK 99.93 1 MYBPC1 99.77 1 MYBPC3 99.98 1 MYF5 99.99 1 MYH7B 99.98 1 MYH2 99.98 1 MYH3 99.99 1 MYH7 99.99 1 MYH8 100.00 1 MYL1 99.75 1 MYL2 99.99 1 MYMK 99.88 1 MYO18B 99.98 1 MYO9A 99.93 1 MYOT 99.93 1 MYPN 99.88 1 NEB 87.33 1 NEFL 100.00 1 ORAI1 99.63 1 PABPN1 99.99 1 PAX7 99.83 1 PEX6 99.99 1 PFKM 99.57 1 PGAM2 100.00 1 PGK1 99.93 1 PGM1 96.77 1 PHKA1 99.84 1 PHKB 99.69 1 PIEZO2 98.45 1 PLEC 100.00 1 PNPLA2 100.00 1 PNPLA8 99.92 1 POGLUT1 99.99 1 POLG 100.00 1 POLG2 99.51 1 POMGNT1 99.69 1 POMGNT2 100.00 1 POMK 100.00 1 POMT1 99.96 1 POMT2 99.98 1 POPDC3 99.96 1 PREPL 99.63 1 PRKAG2 99.96 1 PTRH2 99.99 1 PUS1 100.00 1 PYGM 99.96 1 PYROXD1 99.77 1 RAPSN 99.97 1 RBCK1 100.00 1 RRM2B 99.97 1 RXYLT1 99.48 1 RYR1 99.97 1 RYR3 99.98 1 SCN4A 99.98 1 SELENON 93.61 1 SGCA 100.00 1 SGCB 99.95 1 SGCD 100.00 1 SGCG 99.99 1 SIL1 99.95 1 SLC16A1 99.26 1 SLC18A3 99.99 1 SLC22A5 99.99 1 SLC25A1 99.93 1 SLC25A20 100.00 1 SLC25A4 100.00 1 SLC25A42 99.99 1 SLC5A7 99.57 1 SMCHD1 99.83 1 SMPX 99.80 1 SNAP25 99.89 1 SPEG 99.99 1 SPTBN4 99.91 1 SQSTM1 100.00 1 STAC3 99.91 1 STIM1 99.99 1 SUCLA2 99.96 1 SVIL 99.98 1 SYNE1 99.95 1 SYNE2 99.95 1 SYT2 99.93 1 TARDBP 100.00 1 TCAP 100.00 1 TFAM 99.24 1 TIA1 99.72 1 TIMM22 100.00 1 TK2 99.96 1 TMEM43 99.96 1 TMEM65 99.93 1 TNNC2 99.99 1 TNNI2 99.99 1 TNNT1 99.82 1 TNNT3 100.00 1 TNPO3 99.96 1 TNXB 90.86 1 TOR1AIP1 98.45 1 TPM2 100.00 1 TPM3 83.21 1 TRAPPC11 99.93 1 TRIM32 100.00 1 TRIM54 89.88 1 TRIP4 99.97 1 TSEN54 100.00 1 TSFM 100.00 1 TTN 99.15 1 TYMP 99.87 1 UNC45B 100.00 1 VAMP1 100.00 1 VCP 99.99 1 VMA21 99.90 1 VPS33B 99.95 1 YARS2 99.93 1 ZBTB42 100.00 1 ZC4H2 99.98 1 -
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 -
Skeletal dysplasia (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ALPL 100.00 1 ALX3 100.00 1 ARID1A 99.99 1 B3GALT6 92.42 1 CDC73 99.98 1 COL11A1 99.99 1 COL9A2 100.00 1 CTSK 100.00 1 DDR2 100.00 1 DHCR24 100.00 1 DVL1 100.00 1 FAM20B 100.00 1 FUCA1 100.00 1 GNAI3 99.99 1 GNPAT 99.96 1 GORAB 99.99 1 HHAT 100.00 1 HS2ST1 99.93 1 HSPG2 99.99 1 IARS2 100.00 1 LBR 99.99 1 LMNA 100.00 1 NLRP3 100.00 1 NMNAT1 95.03 1 NOTCH2 100.00 1 NRAS 99.97 1 ORC1 100.00 1 P3H1 100.00 1 PHGDH 100.00 1 PIGV 100.00 1 PLOD1 100.00 1 POLR3GL 100.00 1 PRKACB 100.00 1 PRRX1 100.00 1 RBM8A 100.00 1 SDCCAG8 99.99 1 SF3B4 100.00 1 SKI 100.00 1 SLC25A24 99.30 1 SLC35D1 99.68 1 TBCE 100.00 1 TBX15 100.00 1 TGFB2 100.00 1 TMCO1 99.91 1 TMEM53 100.00 1 ZMPSTE24 99.99 1 CHST3 100.00 1 DNA2 99.99 1 FBXW4 98.98 1 FGFR2 100.00 1 KAT6B 100.00 1 KIF5B 99.93 1 PAPSS2 99.93 1 POLR3A 100.00 1 SLC29A3 100.00 1 SMC3 99.98 1 TCTN3 100.00 1 ALG9 94.06 1 ALX4 100.00 1 ANO5 100.00 1 ARCN1 100.00 1 B3GAT3 94.88 1 BANF1 100.00 1 BBS1 100.00 1 C2CD3 99.99 1 CDKN1C 100.00 1 CREB3L1 100.00 1 CYP2R1 98.84 1 DPAGT1 100.00 1 DYNC2H1 99.84 1 EED 100.00 1 EXT2 100.00 1 FAM111A 100.00 1 FAR1 99.98 1 FERMT3 100.00 1 HRAS 100.00 1 IFITM5 100.00 1 INPPL1 99.93 1 LRP4 100.00 1 LRP5 100.00 1 LTBP3 100.00 1 MMP13 99.99 1 NADSYN1 100.00 1 PIK3C2A 99.99 1 PLCB3 100.00 1 RASGRP2 100.00 1 SERPINH1 100.00 1 SLC39A13 100.00 1 TCIRG1 100.00 1 TMEM138 100.00 1 TMEM216 100.00 1 ABCC9 99.99 1 ALX1 100.00 1 ATP6V0A2 100.00 1 BBS10 100.00 1 CEP290 99.84 1 CHST11 100.00 1 COL2A1 100.00 1 CYP27B1 100.00 1 FGF23 100.00 1 GDF3 100.00 1 GNPTAB 100.00 1 GNS 100.00 1 IFT81 94.63 1 LEMD3 100.00 1 MAPKAPK5 100.00 1 MGP 100.00 1 PDE3A 100.00 1 PEX5 100.00 1 POLE 100.00 1 POLR3B 99.98 1 PTHLH 100.00 1 PTPN11 99.98 1 RFLNA 99.50 1 SP7 100.00 1 TBX3 100.00 1 TBX5 100.00 1 TCTN1 94.52 1 TCTN2 99.95 1 TRPV4 100.00 1 VDR 99.44 1 VPS33A 95.74 1 WNT1 100.00 1 WNT10B 100.00 1 FGF9 99.98 1 GPC6 100.00 1 KL 98.69 1 POLR1D 99.94 1 TGDS 99.99 1 TNFSF11 100.00 1 AKT1 100.00 1 GNPNAT1 99.99 1 GSC 100.00 1 IFT43 100.00 1 KIAA0586 95.70 1 LTBP2 100.00 1 MMP14 100.00 1 SEC23A 99.98 1 SIX1 100.00 1 SMOC1 100.00 1 SRP54 99.97 1 TGFB3 100.00 1 LYSET 100.00 1 TRIP11 99.98 1 TTC8 99.96 1 ACAN 98.67 1 ADAMTS17 98.97 1 BBS4 100.00 1 CEP152 99.99 1 CHST14 99.49 1 CHSY1 99.98 1 DLL4 100.00 1 EFL1 100.00 1 FBN1 100.00 1 FMN1 100.00 1 GREM1 100.00 1 IDH2 99.93 1 KIF7 99.98 1 LRRK1 100.00 1 MAP2K1 100.00 1 MESD 100.00 1 MESP2 100.00 1 PPIB 100.00 1 SMAD3 100.00 1 SMAD6 100.00 1 TCF12 100.00 1 ANKRD11 100.00 1 BBS2 100.00 1 CBFB 100.00 1 CDH3 100.00 1 CDK10 100.00 1 CDT1 99.07 1 CLCN7 99.78 1 COG4 100.00 1 CREBBP 100.00 1 DHODH 100.00 1 GALNS 100.00 1 GINS2 100.00 1 GNPTG 99.45 1 IFT140 100.00 1 KIF22 100.00 1 MBTPS1 100.00 1 MMP2 100.00 1 ORC6 99.99 1 PAM16 100.00 1 PRMT7 99.99 1 RPGRIP1L 98.82 1 RPL13 100.00 1 RSPRY1 100.00 1 SALL1 100.00 1 TBC1D24 100.00 1 TBX6 100.00 1 TMEM231 100.00 1 TRAF7 100.00 1 VAC14 100.00 1 XYLT1 98.81 1 ACTG1 100.00 1 BHLHA9 99.55 1 CANT1 99.97 1 CDC6 100.00 1 COG1 100.00 1 COL1A1 100.00 1 DLX3 100.00 1 EFTUD2 100.00 1 EIF4A3 99.99 1 FKBP10 100.00 1 FZD2 100.00 1 HES7 100.00 1 KCNJ2 100.00 1 KIAA0753 100.00 1 MEOX1 100.00 1 MKS1 100.00 1 MYH3 100.00 1 NAGLU 99.96 1 NF1 99.98 1 NOG 100.00 1 NXN 100.00 1 P4HB 100.00 1 PLEKHM1 100.00 1 PRKAR1A 100.00 1 PYCR1 100.00 1 SERPINF1 100.00 1 SGSH 100.00 1 SMARCE1 99.97 1 SOST 100.00 1 SOX9 100.00 1 SUZ12 99.97 1 TBX4 99.45 1 WNT3 100.00 1 XYLT2 100.00 1 DYM 99.99 1 LPIN2 99.99 1 RBBP8 99.96 1 SMAD2 100.00 1 SMAD4 100.00 1 SMCHD1 99.97 1 TNFRSF11A 97.91 1 ACP5 100.00 1 ADAMTS10 100.00 1 AKT2 100.00 1 APC2 99.99 1 B9D2 100.00 1 CCDC8 100.00 1 COMP 100.00 1 DLL3 99.85 1 DOCK6 100.00 1 EPS15L1 100.00 1 ERF 100.00 1 FUZ 100.00 1 GPX4 96.50 1 LONP1 100.00 1 MAN2B1 100.00 1 MEGF8 99.96 1 NFIX 99.97 1 PRKACA 100.00 1 SMARCA4 100.00 1 TGFB1 100.00 1 TYROBP 100.00 1 UBA2 99.97 1 ACVR1 100.00 1 AFF3 100.00 1 AGPS 99.76 1 ANAPC1 99.82 1 ARHGAP25 100.00 1 BBS5 99.97 1 CKAP2L 100.00 1 COLEC11 100.00 1 CRIPT 100.00 1 CYP26B1 100.00 1 DNMT3A 100.00 1 DYNC2LI1 100.00 1 EIF2AK3 99.96 1 EN1 100.00 1 EXOC6B 99.77 1 FN1 100.00 1 FOSL2 100.00 1 GALNT3 99.99 1 GLI2 100.00 1 HAAO 100.00 1 HDAC4 100.00 1 HOXD13 100.00 1 IDH1 100.00 1 IFIH1 99.99 1 IFT172 100.00 1 IHH 100.00 1 IL1RN 100.00 1 KYNU 99.99 1 LTBP1 100.00 1 MAP3K20 100.00 1 MATN3 99.95 1 MTX2 99.95 1 MYCN 99.97 1 NBAS 100.00 1 NPPC 100.00 1 OBSL1 99.99 1 ORC4 100.00 1 PAX3 100.00 1 PKDCC 99.76 1 POLR1A 100.00 1 POLR1B 100.00 1 SIX2 100.00 1 SMARCAL1 100.00 1 TMEM237 99.98 1 TRAF3IP1 100.00 1 TTC21B 99.97 1 WDPCP 91.91 1 WDR35 99.99 1 WNT6 100.00 1 ASXL1 100.00 1 BMP2 99.98 1 COL9A3 100.00 1 CTSA 100.00 1 DDRGK1 100.00 1 DPM1 97.07 1 ELMO2 100.00 1 GDF5 100.00 1 GNAS 100.00 1 GZF1 100.00 1 IFT52 100.00 1 LAMA5 99.87 1 MAFB 100.00 1 MKKS 99.98 1 MMP9 100.00 1 PLCB4 100.00 1 SALL4 100.00 1 SNRPB 100.00 1 CFAP410 100.00 1 DONSON 99.81 1 PCNT 100.00 1 ALG12 100.00 1 CCDC134 100.00 1 CDC45 100.00 1 EP300 100.00 1 FBLN1 99.89 1 MCM5 100.00 1 MYO18B 100.00 1 PISD 100.00 1 SMARCB1 100.00 1 SPECC1L 100.00 1 ALG3 100.00 1 ARHGAP31 100.00 1 ARL6 100.00 1 ATR 99.98 1 CASR 100.00 1 COPB2 100.00 1 CRTAP 99.90 1 DVL3 100.00 1 DYNLT2B 100.00 1 EOGT 99.99 1 FLNB 100.00 1 GLB1 100.00 1 HYAL1 100.00 1 IFT122 100.00 1 IFT80 99.94 1 LMOD3 100.00 1 MASP1 100.00 1 MECOM 100.00 1 NEPRO 99.99 1 PCYT1A 100.00 1 PIK3CA 99.97 1 PLOD2 99.95 1 POC1A 100.00 1 PTH1R 100.00 1 SETD2 99.99 1 SLCO2A1 100.00 1 SUMF1 100.00 1 TGFBR2 100.00 1 THPO 100.00 1 TOP2B 99.85 1 TP63 99.99 1 TRAIP 100.00 1 WNT5A 100.00 1 WNT7A 100.00 1 ZIC1 100.00 1 AGA 100.00 1 ANTXR2 100.00 1 BBS12 100.00 1 BBS7 99.97 1 BMPR1B 100.00 1 CC2D2A 98.21 1 CENPE 99.92 1 DMP1 100.00 1 DSPP 100.00 1 EDNRA 100.00 1 EVC 96.08 1 EVC2 100.00 1 FGFR3 100.00 1 HPGD 99.99 1 IDUA 99.84 1 INTU 100.00 1 MAB21L2 100.00 1 MANBA 99.99 1 NEK1 99.99 1 NKX3-2 100.00 1 PRKG2 99.98 1 RAB33B 100.00 1 RBPJ 100.00 1 SEC24D 100.00 1 SGMS2 100.00 1 SH3BP2 98.03 1 SLC10A7 100.00 1 TAPT1 98.76 1 TMEM165 99.97 1 UFSP2 99.99 1 WDR19 99.94 1 ANKH 100.00 1 ARSB 99.92 1 ARSK 99.98 1 B4GALT7 99.95 1 BNIP1 100.00 1 CEP120 99.96 1 CPLANE1 99.97 1 CSF1R 100.00 1 DNAJC21 100.00 1 FBN2 99.99 1 FGF10 100.00 1 HSPA9 100.00 1 IL6ST 99.99 1 KIAA0825 99.99 1 LIFR 99.94 1 MSX2 100.00 1 NIPBL 99.91 1 NPR3 100.00 1 NSD1 100.00 1 PDE4D 99.99 1 PDGFRB 100.00 1 PITX1 100.00 1 SH3PXD2B 100.00 1 SLC26A2 100.00 1 SPARC 100.00 1 SQSTM1 100.00 1 TCOF1 100.00 1 XRCC4 100.00 1 ZSWIM6 97.48 1 ARID1B 99.51 1 CCN6 100.00 1 CILK1 99.92 1 COL10A1 100.00 1 COL11A2 100.00 1 COL9A1 99.99 1 CUL7 100.00 1 DSE 99.66 1 EDN1 100.00 1 ENPP1 99.27 1 FIG4 100.00 1 FOXC1 99.89 1 GCM2 100.00 1 GJA1 100.00 1 GMNN 99.99 1 ID4 97.95 1 MAP3K7 100.00 1 MCM3 100.00 1 NEU1 100.00 1 OSTM1 99.96 1 PEX7 100.00 1 PGM3 100.00 1 POLR1C 97.57 1 RAB23 100.00 1 RIPPLY2 99.85 1 RUNX2 100.00 1 SCUBE3 100.00 1 SLC17A5 99.99 1 SLC35B2 100.00 1 TAB2 100.00 1 TENT5A 100.00 1 TFAP2B 100.00 1 TREM2 100.00 1 ACTB 100.00 1 BBS9 99.96 1 BMPER 100.00 1 COL1A2 100.00 1 CYP3A4 99.94 1 DLX5 100.00 1 DLX6 100.00 1 DYNC2I1 96.68 1 EZH2 99.98 1 FAM20C 99.99 1 FKBP14 99.95 1 GLI3 100.00 1 GUSB 100.00 1 HOXA11 100.00 1 HOXA13 96.84 1 KDELR2 100.00 1 LFNG 94.20 1 LMBR1 99.96 1 MCM7 100.00 1 MET 100.00 1 MNX1 87.84 1 POR 100.00 1 RINT1 99.95 1 SBDS 100.00 1 SFRP4 100.00 1 SHH 100.00 1 SLC4A2 100.00 1 SMO 99.99 1 SNX10 99.97 1 TBXAS1 99.99 1 TRPV6 99.41 1 TWIST1 100.00 1 ASAH1 99.99 1 BMP1 100.00 1 BPNT2 100.00 1 CA2 100.00 1 COLEC10 100.00 1 CSGALNACT1 100.00 1 CSPP1 99.99 1 ESCO2 99.74 1 EXT1 100.00 1 EXTL3 100.00 1 FGFR1 100.00 1 GDF6 99.99 1 HGSNAT 96.79 1 NSMCE2 100.00 1 POP1 100.00 1 PTDSS1 100.00 1 RAD21 100.00 1 RECQL4 99.80 1 RSPO2 100.00 1 SLCO5A1 100.00 1 SULF1 100.00 1 TMEM67 99.30 1 TNFRSF11B 100.00 1 TONSL 100.00 1 TRPS1 100.00 1 ABL1 100.00 1 ADAMTSL2 100.00 1 COL27A1 100.00 1 RIGI 99.97 1 DYNC2I2 100.00 1 HNRNPK 100.00 1 IL11RA 100.00 1 LMX1B 100.00 1 MTAP 100.00 1 NANS 100.00 1 NOTCH1 100.00 1 NPR2 100.00 1 ROR2 99.98 1 SLC34A3 100.00 1 TGFBR1 100.00 1 TMEM38B 100.00 1 TRIM32 100.00 1 VCP 100.00 1 ZNF462 100.00 1 AIFM1 100.00 1 AMER1 100.00 1 ARSL 100.00 1 ATP7A 100.00 1 BGN 100.00 1 CCNQ 99.81 1 CLCN5 100.00 1 EBP 100.00 1 EFNB1 100.00 1 FANCB 100.00 1 FGD1 100.00 1 FGF16 100.00 1 FLNA 100.00 1 GPC3 100.00 1 GPC4 100.00 1 HDAC8 100.00 1 IDS 100.00 1 IKBKG 100.00 1 MBTPS2 100.00 1 MID1 100.00 1 NSDHL 100.00 1 OFD1 100.00 1 PHEX 99.99 1 PLS3 100.00 1 PORCN 100.00 1 SHOX 94.83 1 SMC1A 100.00 1 SMS 100.00 1 TRAPPC2 100.00 1 ZIC3 100.00 1 -
mitochondrial disease, nuclear based (343 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS2 100.00 0 No comment ABAT 100.00 0 No comment ABCB7 100.00 0 No comment ACAD9 100.00 0 No comment ACO2 100.00 0 No comment ADPRS 99.18 0 No comment AFG3L2 95.05 0 No comment AGK 100.00 0 No comment AIFM1 100.00 0 No comment ALDH1B1 100.00 0 No comment ANO10 100.00 0 No comment APTX 100.00 0 No comment ATAD3A 98.67 0 No comment ATAD3B 98.52 0 No comment ATAD3C 97.28 0 No comment ATL1 100.00 0 No comment ATL3 100.00 0 No comment ATP5F1A 100.00 0 No comment ATP5F1B 100.00 0 No comment ATP5F1C 100.00 0 No comment ATP5F1D 86.59 0 No comment ATP5F1E 100.00 0 No comment ATP5IF1 100.00 0 No comment ATP5MC1 100.00 0 No comment ATP5MC2 100.00 0 No comment ATP5MC3 100.00 0 No comment ATP5MK 100.00 0 No comment ATP5ME 100.00 0 No comment ATP5MF 100.00 0 No comment ATP5MG 100.00 0 No comment ATP5MGL 100.00 0 No comment ATP5PB 99.84 0 No comment ATP5PD 99.81 0 No comment ATP5PF 100.00 0 No comment ATP5PO 100.00 0 No comment ATPAF1 81.57 0 No comment ATPAF2 100.00 0 No comment BCS1L 100.00 0 No comment BOLA1 100.00 0 No comment BOLA2 100.00 0 No comment BOLA3 84.43 0 No comment MTRFR 100.00 0 No comment C19ORF12 100.00 0 No comment C1QBP 97.23 0 No comment CARS2 95.42 0 No comment CEP89 100.00 0 No comment CHCHD10 97.45 0 No comment CHKB 99.69 0 No comment CLPB 100.00 0 No comment CLPP 100.00 0 No comment COA1 100.00 0 No comment COA3 100.00 0 No comment COA5 100.00 0 No comment COA6 100.00 0 No comment COA7 100.00 0 No comment COA8 100.00 0 No comment COASY 100.00 0 No comment COQ2 97.15 0 No comment COQ4 100.00 0 No comment COQ6 100.00 0 No comment COQ7 100.00 0 No comment COQ8A 100.00 0 No comment COQ8B 90.08 0 No comment COQ9 99.99 0 No comment COX10 100.00 0 No comment COX14 100.00 0 No comment COX15 100.00 0 No comment COX20 98.72 0 No comment COX4I1 100.00 0 No comment COX4I2 100.00 0 No comment COX5A 97.33 0 No comment COX5B 100.00 0 No comment COX6A1 100.00 0 No comment COX6A2 100.00 0 No comment COX6B1 100.00 0 No comment COX6B2 100.00 0 No comment COX6C 100.00 0 No comment COX7A1 100.00 0 No comment COX7A2 100.00 0 No comment COX7A2L 100.00 0 No comment COX7B 99.88 0 No comment COX7B2 100.00 0 No comment COX7C 100.00 0 No comment COX8A 100.00 0 No comment COX8C 98.71 0 No comment CYC1 88.46 0 No comment CYCS 100.00 0 No comment DARS2 100.00 0 No comment DDHD1 98.94 0 No comment DES 100.00 0 No comment DGUOK 100.00 0 No comment DHTKD1 99.98 0 No comment DLAT 100.00 0 No comment DLD 100.00 0 No comment DLST 100.00 0 No comment DMAC2L 100.00 0 No comment DNA2 100.00 0 No comment DNAJC19 100.00 0 No comment DNAJC3 100.00 0 No comment DNM1L 100.00 0 No comment EARS2 100.00 0 No comment ECHS1 99.99 0 No comment ECSIT 100.00 0 No comment ELAC2 99.99 0 No comment ETHE1 99.88 0 No comment FARS2 100.00 0 No comment FASTKD2 100.00 0 No comment FBXL4 100.00 0 No comment FDX2 100.00 0 No comment FDXR 100.00 0 No comment FH 100.00 0 No comment FOXRED1 100.00 0 No comment FXN 89.89 0 No comment GARS1 99.53 0 No comment GATB 100.00 0 No comment GATC 100.00 0 No comment GATM 99.26 0 No comment GFER 97.55 0 No comment GFM1 100.00 0 No comment GFM2 100.00 0 No comment GLRX5 84.06 0 No comment GLUD1 99.45 0 No comment GTPBP3 100.00 0 No comment HARS2 100.00 0 No comment HCCS 100.00 0 No comment HIBCH 100.00 0 No comment HLCS 100.00 0 No comment HSD17B10 100.00 0 No comment HSPA9 100.00 0 No comment HSPD1 99.53 0 No comment HTRA2 100.00 0 No comment IARS2 100.00 0 No comment IBA57 87.89 0 No comment ISCA1 99.77 0 No comment ISCA2 100.00 0 No comment ISCU 99.39 0 No comment KARS1 100.00 0 No comment LACTB 91.87 0 No comment LARS2 100.00 0 No comment LIAS 100.00 0 No comment LIPT1 100.00 0 No comment LIPT2 94.78 0 No comment LONP1 99.83 0 No comment LRPPRC 99.14 0 No comment LYRM4 68.80 0 No comment LYRM7 100.00 0 No comment MARS2 100.00 0 No comment MCUR1 79.55 0 No comment MDH2 98.91 0 No comment MFF 100.00 0 No comment MFN2 100.00 0 No comment MGME1 100.00 0 No comment MICOS13 100.00 0 No comment MICU1 100.00 0 No comment MIEF2 100.00 0 No comment MMUT 100.00 0 No comment MPC1 100.00 0 No comment MPV17 100.00 0 No comment MRM2 99.91 0 No comment MRM3 100.00 0 No comment MRPL12 92.58 0 No comment MRPL3 100.00 0 No comment MRPL44 100.00 0 No comment MRPL57 100.00 0 No comment MRPS14 100.00 0 No comment MRPS16 100.00 0 No comment MRPS2 98.34 0 No comment MRPS22 100.00 0 No comment MRPS34 97.33 0 No comment MRPS7 100.00 0 No comment MRRF 100.00 0 No comment MSTO1 100.00 0 No comment MTFMT 99.11 0 No comment MTO1 95.75 0 No comment MTPAP 100.00 0 No comment NADK2 90.73 0 No comment NARS2 100.00 0 No comment NAXE 99.78 0 No comment NDUFA1 100.00 0 No comment NDUFA10 95.87 0 No comment NDUFA11 98.06 0 No comment NDUFA12 100.00 0 No comment NDUFA13 100.00 0 No comment NDUFA2 100.00 0 No comment NDUFA3 100.00 0 No comment NDUFA4 99.68 0 No comment NDUFA5 87.27 0 No comment NDUFA6 100.00 0 No comment NDUFA7 100.00 0 No comment NDUFA8 100.00 0 No comment NDUFA9 100.00 0 No comment NDUFAB1 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFAF2 100.00 0 No comment NDUFAF3 100.00 0 No comment NDUFAF4 100.00 0 No comment NDUFAF5 100.00 0 No comment NDUFAF6 93.73 0 No comment NDUFAF7 100.00 0 No comment NDUFB1 100.00 0 No comment NDUFB10 100.00 0 No comment NDUFB11 99.52 0 No comment NDUFB2 100.00 0 No comment NDUFB3 100.00 0 No comment NDUFB4 99.85 0 No comment NDUFB5 100.00 0 No comment NDUFB6 100.00 0 No comment NDUFB7 100.00 0 No comment NDUFB8 100.00 0 No comment NDUFB9 100.00 0 No comment NDUFC1 100.00 0 No comment NDUFC2 100.00 0 No comment NDUFS1 100.00 0 No comment NDUFS2 100.00 0 No comment NDUFS3 100.00 0 No comment NDUFS4 100.00 0 No comment NDUFS5 99.18 0 No comment NDUFS6 100.00 0 No comment NDUFS7 99.49 0 No comment NDUFS8 100.00 0 No comment NDUFV1 100.00 0 No comment NDUFV2 100.00 0 No comment NDUFV3 99.46 0 No comment NFS1 93.58 0 No comment NFU1 99.75 0 No comment NSUN3 100.00 0 No comment NUBPL 100.00 0 No comment OGDH 100.00 0 No comment MED12 100.00 0 No comment OPA3 100.00 0 No comment OXA1L 100.00 0 No comment PANK2 98.60 0 No comment PARS2 100.00 0 No comment PODXL 100.00 0 No comment PDHA1 98.17 0 No comment PDHB 100.00 0 No comment PDHX 99.87 0 No comment PDK1 99.19 0 No comment PDK2 100.00 0 No comment PDK3 99.76 0 No comment PDK4 100.00 0 No comment PDP1 100.00 0 No comment PDSS1 86.24 0 No comment PDSS2 100.00 0 No comment PET100 100.00 0 No comment PET117 100.00 0 No comment PIGA 100.00 0 No comment PINK1 92.83 0 No comment PISD 100.00 0 No comment PITRM1 100.00 0 No comment PMPCA 100.00 0 No comment PNPT1 100.00 0 No comment POLG 100.00 0 No comment POLG2 100.00 0 No comment POLR3A 100.00 0 No comment PPA2 99.97 0 No comment PTRH2 100.00 0 No comment PUS1 99.08 0 No comment PYCR1 100.00 0 No comment PYCR2 100.00 0 No comment QRSL1 100.00 0 No comment RARS2 100.00 0 No comment REEP1 97.37 0 No comment RMND1 100.00 0 No comment RNASEH1 100.00 0 No comment RRM2B 100.00 0 No comment SARS2 100.00 0 No comment SCO1 100.00 0 No comment SCO2 100.00 0 No comment SDHA 98.02 0 No comment SDHAF1 96.03 0 No comment SDHB 100.00 0 No comment SDHD 80.22 0 No comment SERAC1 100.00 0 No comment SFXN4 100.00 0 No comment SLC19A2 99.50 0 No comment SLC19A3 100.00 0 No comment SLC25A1 93.77 0 No comment SLC25A12 100.00 0 No comment SLC25A13 99.94 0 No comment SLC25A19 100.00 0 No comment SLC25A22 100.00 0 No comment SLC25A24 99.82 0 No comment SLC25A3 100.00 0 No comment SLC25A32 100.00 0 No comment SLC25A4 99.09 0 No comment SLC25A46 100.00 0 No comment SLC25A5 98.36 0 No comment SLC25A6 100.00 0 No comment SLC39A8 97.00 0 No comment SPART 100.00 0 No comment SPAST 100.00 0 No comment AFG2A 100.00 0 No comment SPG7 96.56 0 No comment SQSTM1 93.68 0 No comment STXBP1 100.00 0 No comment SUCLA2 100.00 0 No comment SUCLG1 95.74 0 No comment SUCLG2 99.95 0 No comment SURF1 87.74 0 No comment TACO1 99.90 0 No comment TANGO2 100.00 0 No comment TARS2 100.00 0 No comment WWTR1 99.81 0 No comment THG1L 100.00 0 No comment TIMM44 99.93 0 No comment TIMM50 100.00 0 No comment TIMM8A 100.00 0 No comment TIMMDC1 100.00 0 No comment TK2 95.90 0 No comment TMEM126A 100.00 0 No comment TMEM126B 100.00 0 No comment TMEM70 100.00 0 No comment TPK1 100.00 0 No comment TRIAP1 100.00 0 No comment TRIT1 100.00 0 No comment TRMT10C 100.00 0 No comment TRMT5 100.00 0 No comment TRMU 100.00 0 No comment TRNT1 100.00 0 No comment TSFM 93.22 0 No comment TTC19 85.12 0 No comment TUFM 100.00 0 No comment TWNK 100.00 0 No comment TXN2 100.00 0 No comment TYMP 91.72 0 No comment UBA52 100.00 0 No comment UQCC1 100.00 0 No comment UQCC2 100.00 0 No comment UQCC3 100.00 0 No comment UQCR10 100.00 0 No comment UQCR11 100.00 0 No comment UQCRB 100.00 0 No comment UQCRC1 99.82 0 No comment UQCRC2 100.00 0 No comment UQCRFS1 98.87 0 No comment UQCRH 100.00 0 No comment UQCRQ 100.00 0 No comment VARS2 100.00 0 No comment VPS13D 100.00 0 No comment WARS2 100.00 0 No comment YARS2 100.00 0 No comment YME1L1 100.00 0 No comment