TMEM63C

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Name:	transmembrane protein 63C
Symbol:	TMEM63C
Version of Orphanet:	2023-06-22 14:14:43
XREF(s):	Orphanet Ensembl OMIM SwissProt HGNC
Created:	26 Oct 2023 - 23:41
Changed:	26 Oct 2023 - 23:49

Related Genetic Tests

• Hereditary Spastic Paraplegia (gene panel)

Related Diseases

• Autosomal recessive spastic paraplegia type 87

Related Gene Panels

• 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