CPT1C

Analyte Export to PDF

Name:	carnitine palmitoyltransferase 1C
Symbol:	CPT1C
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	CATL1 CPT1P CPTIC FLJ23809
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Ataxia Spasticity (gene panel)
• Hereditary Spastic Paraplegia (94 genes)
• Hereditary Spastic Paraplegia (gene panel)
• Hereditary spastic paraplegia (gene panel - 249 genes)
• Neuromuscular disorders (548 genes)
• Spastic Paraplegia (gene panel)

Related Diseases

• Autosomal dominant spastic paraplegia type 73

Related Gene Panels

• Ataxia Spasticity - UGent
  Details

  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
  Details

  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

• Hereditary Spastic Paraplegia (94 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCD1	95.00	0	interpretable range CS1>95%
  ADAR	95.00	0	interpretable range CS1>95%
  AFG3L2	95.00	0	interpretable range CS1>95%
  AIMP1	95.00	0	interpretable range CS1>95%
  ALDH18A1	95.00	0	interpretable range CS1>95%
  ALDH3A2	95.00	0	interpretable range CS1>95%
  ALS2	95.00	0	interpretable range CS1>95%
  AMPD2	95.00	0	interpretable range CS1>95%
  AP4B1	95.00	0	interpretable range CS1>95%
  AP4E1	95.00	0	interpretable range CS1>95%
  AP4M1	95.00	0	interpretable range CS1>95%
  AP4S1	95.00	0	interpretable range CS1>95%
  AP5Z1	95.00	0	interpretable range CS1>95%
  ARL6IP1	95.00	0	interpretable range CS1>95%
  ARSI	95.00	0	interpretable range CS1>95%
  ATL1	95.00	0	interpretable range CS1>95%
  ATP13A2	95.00	0	interpretable range CS1>95%
  B4GALNT1	95.00	0	interpretable range CS1>95%
  BICD2	95.00	0	interpretable range CS1>95%
  BSCL2	95.00	0	interpretable range CS1>95%
  MTRFR	95.00	0	interpretable range CS1>95%
  C19ORF12	95.00	0	interpretable range CS1>95%
  CAPN1	95.00	0	interpretable range CS1>95%
  CCT5	95.00	0	interpretable range CS1>95%
  CPT1C	95.00	0	interpretable range CS1>95%
  CYP27A1	95.00	0	interpretable range CS1>95%
  CYP2U1	95.00	0	interpretable range CS1>95%
  CYP7B1	95.00	0	interpretable range CS1>95%
  DARS1	95.00	0	interpretable range CS1>95%
  DDHD1	95.00	0	interpretable range CS1>95%
  DDHD2	95.00	0	interpretable range CS1>95%
  DSTYK	95.00	0	interpretable range CS1>95%
  ENTPD1	95.00	0	interpretable range CS1>95%
  ERLIN1	95.00	0	interpretable range CS1>95%
  ERLIN2	95.00	0	interpretable range CS1>95%
  FA2H	95.00	0	interpretable range CS1>95%
  FARS2	95.00	0	interpretable range CS1>95%
  FLRT1	95.00	0	interpretable range CS1>95%
  GBA2	95.00	0	interpretable range CS1>95%
  GCH1	95.00	0	interpretable range CS1>95%
  GJC2	95.00	0	interpretable range CS1>95%
  HACE1	95.00	0	interpretable range CS1>95%
  HSPD1	95.00	0	interpretable range CS1>95%
  IBA57	95.00	0	interpretable range CS1>95%
  KCNA2	95.00	0	interpretable range CS1>95%
  KDM5C	95.00	0	interpretable range CS1>95%
  KIDINS220	95.00	0	interpretable range CS1>95%
  KIF1A	95.00	0	interpretable range CS1>95%
  KIF1C	95.00	0	interpretable range CS1>95%
  KIF5A	95.00	0	interpretable range CS1>95%
  KLC2	95.00	0	interpretable range CS1>95%
  L1CAM	95.00	0	interpretable range CS1>95%
  ERCC2	95.00	0	interpretable range CS1>95%
  MARS1	95.00	0	interpretable range CS1>95%
  MARS2	95.00	0	interpretable range CS1>95%
  MTPAP	95.00	0	interpretable range CS1>95%
  NIPA1	95.00	0	interpretable range CS1>95%
  NKX6-2	95.00	0	interpretable range CS1>95%
  NT5C2	95.00	0	interpretable range CS1>95%
  OPA3	95.00	0	interpretable range CS1>95%
  PCYT2	95.00	0	interpretable range CS1>95%
  PGAP1	95.00	0	interpretable range CS1>95%
  PLP1	95.00	0	interpretable range CS1>95%
  PNPLA6	95.00	0	interpretable range CS1>95%
  POLR3A	95.00	0	interpretable range CS1>95%
  RAB3GAP2	95.00	0	interpretable range CS1>95%
  REEP1	95.00	0	interpretable range CS1>95%
  REEP2	95.00	0	interpretable range CS1>95%
  RNASEH2B	95.00	0	interpretable range CS1>95%
  RTN2	95.00	0	interpretable range CS1>95%
  SACS	95.00	0	interpretable range CS1>95%
  SERAC1	95.00	0	interpretable range CS1>95%
  SLC16A2	95.00	0	interpretable range CS1>95%
  SLC1A4	95.00	0	interpretable range CS1>95%
  SLC2A1	95.00	0	interpretable range CS1>95%
  SLC33A1	95.00	0	interpretable range CS1>95%
  SPART	95.00	0	interpretable range CS1>95%
  SPAST	95.00	0	interpretable range CS1>95%
  SPG11	95.00	0	interpretable range CS1>95%
  SPG21	95.00	0	interpretable range CS1>95%
  SPG7	95.00	0	interpretable range CS1>95%
  TECPR2	95.00	0	interpretable range CS1>95%
  TFG	95.00	0	interpretable range CS1>95%
  TUBB4A	95.00	0	interpretable range CS1>95%
  UBAP1	95.00	0	interpretable range CS1>95%
  UCHL1	95.00	0	interpretable range CS1>95%
  USP8	95.00	0	interpretable range CS1>95%
  VAMP1	95.00	0	interpretable range CS1>95%
  VPS37A	95.00	0	interpretable range CS1>95%
  WASHC5	95.00	0	interpretable range CS1>95%
  WDR48	95.00	0	interpretable range CS1>95%
  ZFR	95.00	0	interpretable range CS1>95%
  ZFYVE26	95.00	0	interpretable range CS1>95%
  ZFYVE27	95.00	0	interpretable range CS1>95%
  BRAF	95.00	0	interpretable range CS1>95%
  CBL	95.00	0	interpretable range CS1>95%
  HRAS	95.00	0	interpretable range CS1>95%
  KRAS	95.00	0	interpretable range CS1>95%
  MAP2K1	95.00	0	interpretable range CS1>95%
  MAP2K2	95.00	0	interpretable range CS1>95%
  NRAS	95.00	0	interpretable range CS1>95%
  PTPN11	95.00	0	interpretable range CS1>95%
  RAF1	95.00	0	interpretable range CS1>95%
  SHOC2	95.00	0	interpretable range CS1>95%
  SOS1	95.00	0	interpretable range CS1>95%
  RIT1	95.00	0	interpretable range CS1>95%

• 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

• 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

• Spastic Paraplegia (89 genes) - IPG
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ALS2	100.00	1	NM_020919.4
  AMPD2	100.00	1	NM_001368809.2
  AP4B1	100.00	1	NM_001253852.3
  AP4E1	100.00	1	NM_007347.5
  AP4M1	100.00	1	NM_004722.4
  AP4S1	100.00	1	NM_001128126.3
  AP5Z1	100.00	1	NM_014855.3
  ARL6IP1	100.00	1	NM_015161.3
  ARSI	100.00	1	NM_001012301.4
  ATL1	100.00	1	NM_015915.5
  B4GALNT1	100.00	1	NM_001478.5
  BICD2	100.00	1	NM_001003800.2
  BSCL2	100.00	1	NM_001122955.3
  MTRFR	100.00	1	NM_152269.5
  C19ORF12	100.00	1	NM_031448.6
  CCT5	100.00	1	NM_012073.5
  CYP2U1	100.00	1	NM_183075.3
  CYP7B1	100.00	1	NM_004820.5
  DDHD1	100.00	1	NM_001160148.2
  DDHD2	100.00	1	NM_015214.3
  ENTPD1	100.00	1	NM_001776.6
  ERLIN1	100.00	1	NM_006459.4
  ERLIN2	100.00	1	NM_007175.8
  FA2H	100.00	1	NM_024306.5
  FLRT1	100.00	1	NM_013280.4
  GAD1	100.00	1	NM_000817.3
  GBA2	100.00	1	NM_020944.3
  GJA1	100.00	1	NM_000165.5
  GJC2	100.00	1	NM_020435.4
  HSPD1	100.00	1	NM_002156.5
  KIF1A	100.00	1	NM_001244008.1
  KIF1C	100.00	1	NM_006612.6
  KIF5A	100.00	1	NM_004984.4
  L1CAM	100.00	1	NM_001278116.2
  MAG	100.00	1	NM_002361.4
  MARS1	100.00	1	NM_004990.4
  NIPA1	100.00	1	NM_144599.5
  NT5C2	100.00	1	NM_001351169.2
  PGAP1	100.00	1	NM_024989.4
  PLP1	100.00	1	NM_000533.5
  PNPLA6	100.00	1	NM_001166111.2
  RAB3GAP2	100.00	1	NM_012414.4
  REEP1	100.00	1	NM_001371279.1
  REEP2	100.00	1	NM_001271803.2
  RTN2	100.00	1	NM_005619.5
  SACS	100.00	1	NM_014363.6
  SETX	100.00	1	NM_015046.7
  SLC16A2	100.00	1	NM_006517.5
  SLC33A1	100.00	1	NM_004733.4
  SPART	100.00	1	NM_015087.5
  SPAST	100.00	1	NM_014946.3
  SPG11	100.00	1	NM_025137.4
  SPG21	100.00	1	NM_016630.7
  SPG7	100.00	1	NM_003119.4
  TECPR2	100.00	1	NM_014844.5
  TFG	100.00	1	NM_006070.6
  USP8	100.00	1	NM_005154.5
  VCP	100.00	1	NM_007126.5
  VPS37A	100.00	1	NM_152415.3
  WASHC5	100.00	1	NM_014846.4
  WDR48	100.00	1	NM_020839.4
  ZFR	100.00	1	NM_016107.5
  ZFYVE26	100.00	1	NM_015346.4
  ADAR	100.00	1	NM_001111.5
  AFG3L2	100.00	1	NM_006796.3
  ALDH18A1	100.00	1	NM_002860.4
  ALDH3A2	100.00	1	NM_000382.3
  ATXN1	100.00	1	NM_000332.3
  CAPN1	100.00	1	NM_005186.4
  COA8	100.00	1	NM_001370595.1
  CPT1C	100.00	1	NM_001199753.1
  CYP27A1	100.00	1	NM_000784.4
  DSTYK	100.00	1	NM_015375.3
  FARS2	100.00	1	NM_006567.5
  GFAP	100.00	1	NM_002055.5
  GLRX5	100.00	1	NM_016417.3
  HACE1	100.00	1	NM_020771.4
  IBA57	100.00	1	NM_001010867.4
  ITPR1	100.00	1	NM_001168272.1
  KIDINS220	100.00	1	NM_020738.4
  KLC2	100.00	1	NM_001134775.1
  KLC4	100.00	1	NM_201521.3
  PCYT2	100.00	1	NM_002861.5
  RAB18	100.00	1	NM_021252.5
  RAB3GAP1	100.00	1	NM_012233.3
  TBC1D20	100.00	1	NM_144628.4
  UBAP1	100.00	1	NM_016525.5
  UCHL1	100.00	1	NM_004181.5
  ZFYVE27	100.00	1	NM_001002261.3