HNRNPDL

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Name:	heterogeneous nuclear ribonucleoprotein D like
Symbol:	HNRNPDL
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	JKTBP laAUF1
XREF(s):	Orphanet Reactome Ensembl Genatlas HGNC OMIM SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Myopathy (gene panel)
• Myopathy (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)

Related Diseases

• HNRNPDL-related limb-girdle muscular dystrophy D3

Related Gene Panels

• Myopathy (332 genes) - IPG
  Details

  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 à 7 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
  Details

  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

• Neuromuscular disorders (548 genes) - ULB
  Details

  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 (232 genes) - KUL
  Details

  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
  Details

  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