UBQLN2

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Name:	ubiquilin 2
Symbol:	UBQLN2
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	CHAP1/DSK2 Chap1 Dsk2 LIC-2 N4BP4 NEDD4 binding protein 4 PLIC-2 PLIC2 RIHFB2157
XREF(s):	Orphanet Reactome Genatlas HGNC OMIM SwissProt Ensembl
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Amyotrophic Lateral Sclerosis (ALS) (gene panel)
• Dementia, young onset (gene panel)
• Hereditary spastic paraplegia (gene panel - 249 genes)
• Movement Disorders (gene panel)
• Myopathy (gene panel)
• Neurodegeneration (gene panel)
• Neuromuscular disorders (548 genes)
• Neuromuscular disorders : congenital & distal myopathy, congenital muscle dystrophy / Limb-girdle muscular dystrophy / Rhabdomyolysis / Myopathy (with prominent contractures) / distal artrogryposis (gene panel)
• Neuropathy (gene panel)

Related Diseases

• Amyotrophic lateral sclerosis

Related Gene Panels

• Amyotrophic Lateral Sclerosis (ALS) - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ALS2	99.87	1
  ANG	100.00	1
  ANXA11	99.71	1
  CCNF	99.99	1
  CHCHD10	100.00	1
  CHMP2B	99.80	1
  DCTN1	99.98	1
  ERBB4	99.92	1
  FIG4	99.83	1
  FUS	99.93	1
  GRN	100.00	1
  HNRNPA1	62.92	1
  HNRNPA2B1	99.90	1
  KIF5A	99.91	1
  MATR3	99.86	1
  NEFH	100.00	1
  NEK1	99.83	1
  OPTN	99.98	1
  PFN1	74.59	1
  SETX	99.97	1
  SIGMAR1	99.99	1
  SLC52A1	100.00	1
  SLC52A2	100.00	1
  SLC52A3	99.94	1
  SOD1	99.97	1
  SPG11	99.89	1
  SQSTM1	100.00	1
  TAF15	99.91	1
  TARDBP	100.00	1
  TBK1	99.07	1
  TUBA4A	100.00	1
  UBQLN2	100.00	1
  UNC13A	99.99	1
  VAPB	100.00	1
  VCP	99.99	1
  LYST	99.87	1
  GLE1	99.99	-2
  SORD	85.52	-2
  SPTLC1	99.74	-2

• Dementia, young onset (gene panel)
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  APOE	100.00	1
  APP	100.00	1
  CHCHD10	100.00	1
  CHMP2B	100.00	1
  CSF1R	100.00	1
  FUS	100.00	1
  GRN	100.00	1
  HTRA1	95.00	1
  ITM2B	100.00	1
  MAPT	100.00	1
  NOTCH3	98.00	1
  OPTN	100.00	1
  PRNP	100.00	1
  PSEN1	100.00	1
  PSEN2	100.00	1
  TARDBP	100.00	1
  TBK1	100.00	1
  TREM2	100.00	1
  TYROBP	100.00	1
  UBQLN2	100.00	1
  VCP	100.00	1

• Hereditary spastic paraplegia (188 genes) - ULB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCD1	97.56	1
  ABHD12	88.30	1
  ADAR	100.00	1
  AFG3L2	94.80	1
  AIMP1	99.97	1
  ALDH18A1	100.00	1
  ALDH3A2	99.94	1
  ALS2	100.00	1
  AMPD2	99.90	1
  ANG	100.00	1
  AP4B1	100.00	1
  AP4E1	99.99	1
  AP4M1	100.00	1
  AP4S1	100.00	1
  AP5Z1	99.25	1
  ARG1	100.00	1
  ARL6IP1	100.00	1
  ARSI	99.82	1
  ASPA	100.00	1
  ATAD3A	97.50	1
  ATL1	99.89	1
  ATP13A2	98.30	1
  AUH	99.24	1
  B4GALNT1	99.99	1
  BICD2	100.00	1
  BSCL2	100.00	1
  BTD	100.00	1
  MTRFR	100.00	1
  C19ORF12	100.00	1
  CAPN1	99.97	1
  CCT5	99.92	1
  CDK16	99.96	1
  CLN8	100.00	1
  COASY	100.00	1
  CPT1C	100.00	1
  CSF1R	99.99	1
  CTNNB1	100.00	1
  CYP27A1	99.38	1
  CYP2U1	93.20	1
  CYP7B1	100.00	1
  DARS1	100.00	1
  DARS2	100.00	1
  DDHD1	99.58	1
  DDHD2	100.00	1
  DSTYK	100.00	1
  ELOVL4	100.00	1
  ENTPD1	100.00	1
  ERCC2	98.91	1
  ERLIN1	100.00	1
  ERLIN2	100.00	1
  EXOSC3	100.00	1
  FA2H	95.71	1
  HYCC1	100.00	1
  RETREG1	100.00	1
  FARS2	100.00	1
  FBXO7	99.78	1
  FIG4	100.00	1
  FLRT1	100.00	1
  FRMD7	99.98	1
  FUS	100.00	1
  FXN	100.00	1
  GAD1	100.00	1
  GALC	98.98	1
  GAN	98.52	1
  GARS1	97.89	1
  GART	99.99	1
  GBA1	100.00	1
  GBA2	100.00	1
  GBE1	100.00	1
  GCH1	99.71	1
  GFAP	100.00	1
  GJA1	100.00	1
  GJC2	96.72	1
  GLB1	100.00	1
  GLRX5	100.00	1
  GLTP	100.00	1
  GPR143	89.09	1
  GSN	97.80	1
  HACE1	98.41	1
  HEPACAM	99.85	1
  HEXA	100.00	1
  HSD17B4	100.00	1
  HSPD1	100.00	1
  IBA57	92.01	1
  IFIH1	100.00	1
  IRF2BPL	97.56	1
  KCNJ6	100.00	1
  KCNMA1	99.93	1
  KDM5C	99.97	1
  WASHC5	100.00	1
  NEXMIF	100.00	1
  KIDINS220	100.00	1
  KIF1A	98.74	1
  KIF1C	100.00	1
  KIF5A	100.00	1
  KLC2	100.00	1
  KLC4	99.99	1
  L1CAM	99.98	1
  L2HGDH	99.75	1
  LAMB1	100.00	1
  LYST	100.00	1
  MARS1	100.00	1
  MARS2	100.00	1
  MFN2	100.00	1
  MLC1	98.57	1
  MTPAP	99.98	1
  NANS	100.00	1
  NEFL	100.00	1
  NIPA1	92.99	1
  NKX6-2	100.00	1
  NT5C2	100.00	1
  OCLN	100.00	1
  MED12	99.98	1
  OPA3	100.00	1
  OPTN	100.00	1
  PANK2	100.00	1
  PDYN	100.00	1
  PGAP1	100.00	1
  PLA2G6	100.00	1
  PLP1	100.00	1
  PNPLA6	99.95	1
  POLR3A	100.00	1
  POLR3B	100.00	1
  PPP2R2B	100.00	1
  PRUNE1	100.00	1
  PSEN1	100.00	1
  PUM1	100.00	1
  RAB18	99.99	1
  RAB3GAP1	100.00	1
  RAB3GAP2	100.00	1
  RARS1	99.99	1
  REEP1	100.00	1
  REEP2	97.04	1
  RNASEH2A	100.00	1
  RNASEH2B	94.58	1
  RNASEH2C	100.00	1
  RNASET2	100.00	1
  RTN2	99.44	1
  SACS	99.95	1
  SAMD9L	100.00	1
  SAMHD1	100.00	1
  SERAC1	100.00	1
  SETX	100.00	1
  SIL1	99.95	1
  SLC16A2	99.97	1
  SLC25A15	100.00	1
  SLC25A46	100.00	1
  SLC2A1	100.00	1
  SLC33A1	100.00	1
  SLC39A14	99.94	1
  SMPD1	100.00	1
  SOD1	100.00	1
  SOX10	100.00	1
  SPAST	99.83	1
  SPG11	100.00	1
  SPART	100.00	1
  SPG21	100.00	1
  SPG7	95.78	1
  SPR	99.98	1
  SUN1	100.00	1
  SYNE1	100.00	1
  TANGO2	99.94	1
  TARDBP	99.43	1
  TBC1D20	95.06	1
  TECPR2	99.92	1
  TFG	99.98	1
  TGM6	100.00	1
  TH	98.79	1
  TRPV4	100.00	1
  TTBK2	100.00	1
  TUBB4A	100.00	1
  TUBG1	100.00	1
  UBQLN2	99.30	1
  UCHL1	99.66	1
  USP8	100.00	1
  VAMP1	100.00	1
  VAPB	99.77	1
  VCP	97.10	1
  VPS13B	100.00	1
  VPS37A	99.28	1
  WDR45	100.00	1
  WDR45B	99.94	1
  WDR48	100.00	1
  ZC4H2	100.00	1
  ZFR	100.00	1
  ZFYVE26	100.00	1
  ZFYVE27	100.00	1

• Movement Disorders - ULG
  Details

  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
  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

• Neurodegeneration (99 genes) - IPG
  Details

  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
  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 (166 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ACADVL	0.00	0	No value for column 2
  ACTA1	0.00	0	No value for column 2
  AGRN	0.00	0	No value for column 2
  ALDOA	0.00	0	No value for column 2
  ALG14	0.00	0	No value for column 2
  ALG2	99.94	0	No comment
  ALS2	100.00	0	No comment
  ANG	100.00	0	No comment
  ANO5	100.00	0	No comment
  ASAH1	99.94	0	No comment
  ATP7A	100.00	0	No comment
  ATXN2	89.10	0	No comment
  B3GALNT2	85.88	0	No comment
  B4GAT1	100.00	0	No comment
  BAG3	100.00	0	No comment
  BICD2	100.00	0	No comment
  BIN1	100.00	0	No comment
  BSCL2	100.00	0	No comment
  C9ORF72	100.00	0	No comment
  CAV3	100.00	0	No comment
  CFL2	99.75	0	No comment
  CHAT	100.00	0	No comment
  CHKB	99.69	0	No comment
  CHRNA1	100.00	0	No comment
  CHRNB1	100.00	0	No comment
  CHRND	100.00	0	No comment
  CHRNE	100.00	0	No comment
  CHRNG	100.00	0	No comment
  COL6A1	100.00	0	No comment
  COL6A2	100.00	0	No comment
  COL6A3	100.00	0	No comment
  COLQ	100.00	0	No comment
  CPT2	98.71	0	No comment
  CRPPA	95.75	0	No comment
  CRYAB	100.00	0	No comment
  DAG1	100.00	0	No comment
  DAO	100.00	0	No comment
  DCTN1	100.00	0	No comment
  DES	100.00	0	No comment
  DGUOK	100.00	0	No comment
  DMD	100.00	0	No comment
  DNAJB2	100.00	0	No comment
  DNAJB6	99.34	0	No comment
  DNM2	99.95	0	No comment
  DOK7	98.77	0	No comment
  DOLK	100.00	0	No comment
  DPAGT1	100.00	0	No comment
  DPM1	100.00	0	No comment
  DPM2	100.00	0	No comment
  DPM3	100.00	0	No comment
  DYNC1H1	100.00	0	No comment
  DYSF	100.00	0	No comment
  ECEL1	95.92	0	No comment
  EMD	99.84	0	No comment
  ENO3	100.00	0	No comment
  ETFA	100.00	0	No comment
  ETFB	100.00	0	No comment
  ETFDH	100.00	0	No comment
  EXOSC3	100.00	0	No comment
  FBLN5	100.00	0	No comment
  FBXO38	100.00	0	No comment
  FDX2	100.00	0	No comment
  CFH	100.00	0	No comment
  FKRP	98.68	0	No comment
  FKTN	100.00	0	No comment
  FLNC	100.00	0	No comment
  FUS	100.00	0	No comment
  GAA	100.00	0	No comment
  GARS1	99.53	0	No comment
  GFPT1	99.98	0	No comment
  GLE1	100.00	0	No comment
  GMPPB	100.00	0	No comment
  GNE	100.00	0	No comment
  GRN	100.00	0	No comment
  HADHA	100.00	0	No comment
  HADHB	100.00	0	No comment
  HARS1	100.00	0	No comment
  HEXB	99.82	0	No comment
  HNRNPA1	99.61	0	No comment
  HNRNPA2B1	100.00	0	No comment
  HSPB1	100.00	0	No comment
  HSPB3	100.00	0	No comment
  HSPB8	100.00	0	No comment
  IGHMBP2	100.00	0	No comment
  ISCU	99.39	0	No comment
  KBTBD13	97.91	0	No comment
  KLHL40	100.00	0	No comment
  KLHL9	100.00	0	No comment
  LAMA2	100.00	0	No comment
  LAMB2	100.00	0	No comment
  LARGE1	100.00	0	No comment
  LAS1L	100.00	0	No comment
  LDB3	100.00	0	No comment
  LMNA	99.93	0	No comment
  LPIN1	100.00	0	No comment
  CORIN	98.90	0	No comment
  MATR3	100.00	0	No comment
  MEGF10	100.00	0	No comment
  MTM1	100.00	0	No comment
  MUSK	100.00	0	No comment
  MYBPC3	100.00	0	No comment
  MYH7B	100.00	0	No comment
  MYH3	100.00	0	No comment
  MYH7	100.00	0	No comment
  MYH8	100.00	0	No comment
  MYOT	100.00	0	No comment
  NEB	99.99	0	No comment
  NEFH	84.73	0	No comment
  OPTN	100.00	0	No comment
  PABPN1	91.84	0	No comment
  PFKM	100.00	0	No comment
  PFN1	100.00	0	No comment
  PGAM2	100.00	0	No comment
  PGK1	100.00	0	No comment
  PGM1	100.00	0	No comment
  PHKA1	100.00	0	No comment
  PHKB	100.00	0	No comment
  PLEC	99.82	0	No comment
  PLEKHG5	99.10	0	No comment
  POLG	100.00	0	No comment
  POMGNT1	100.00	0	No comment
  POMGNT2	100.00	0	No comment
  POMK	100.00	0	No comment
  POMT1	100.00	0	No comment
  POMT2	99.90	0	No comment
  PREPL	100.00	0	No comment
  PYGM	100.00	0	No comment
  QDPR	99.04	0	No comment
  RAPSN	100.00	0	No comment
  REEP1	97.37	0	No comment
  RXYLT1	99.84	0	No comment
  RYR1	98.38	0	No comment
  SCN4A	100.00	0	No comment
  SELENON	84.04	0	No comment
  SETX	100.00	0	No comment
  SIGMAR1	96.60	0	No comment
  SIL1	100.00	0	No comment
  SLC18A3	100.00	0	No comment
  SLC52A2	100.00	0	No comment
  SLC52A3	100.00	0	No comment
  SLC5A7	100.00	0	No comment
  SMN1	96.55	0	No comment
  SNAP25	100.00	0	No comment
  SOD1	100.00	0	No comment
  SQSTM1	93.68	0	No comment
  SYT2	100.00	0	No comment
  TAF15	100.00	0	No comment
  TARDBP	100.00	0	No comment
  TFG	100.00	0	No comment
  TIA1	100.00	0	No comment
  TNNI2	100.00	0	No comment
  TNNT1	98.58	0	No comment
  TNNT3	100.00	0	No comment
  TNPO3	100.00	0	No comment
  TPM2	100.00	0	No comment
  TPM3	99.55	0	No comment
  TRPV4	100.00	0	No comment
  TSEN54	94.23	0	No comment
  TTN	100.00	0	No comment
  UBA1	100.00	0	No comment
  UBQLN2	99.88	0	No comment
  UNC13A	99.87	0	No comment
  VAPB	100.00	0	No comment
  VCP	98.45	0	No comment
  VEGFA	98.73	0	No comment
  VRK1	100.00	0	No comment

• Neuropathy (148 genes) - IPG
  Details

  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