TBCC

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Name:	tubulin folding cofactor C
Symbol:	TBCC
XREF(s):	OMIM HGNC ORPHANET
Created:	02 Mar 2022 - 11:49
Changed:	02 Mar 2022 - 11:49

Related Genetic Tests

• Ataxia (autosomic dominant and recessive / except expansion of triplets) (gene panel - 722 genes)

Related Gene Panels

• Ataxia (348 genes) - ULB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AAAS	100.00	0	No comment
  ABCB7	99.99	0	No comment
  ABCD1	97.56	0	No comment
  ABHD12	88.30	0	No comment
  ABHD5	99.85	0	No comment
  ACADVL	98.04	0	No comment
  ACO2	100.00	0	No comment
  COQ8A	99.92	0	No comment
  AFG3L2	94.80	0	No comment
  AHI1	100.00	0	No comment
  ALAS2	100.00	0	No comment
  ALDH18A1	100.00	0	No comment
  ALDH5A1	84.13	0	No comment
  ALG6	100.00	0	No comment
  ALS2	100.00	0	No comment
  AMACR	96.78	0	No comment
  AMPD2	99.90	0	No comment
  AMT	100.00	0	No comment
  ANO10	100.00	0	No comment
  AP1S2	100.00	0	No comment
  APTX	99.96	0	No comment
  ARL13B	99.98	0	No comment
  ARL6	100.00	0	No comment
  ARSA	100.00	0	No comment
  ARX	100.00	0	No comment
  ASPA	100.00	0	No comment
  ATCAY	100.00	0	No comment
  ATG5	100.00	0	No comment
  ATL1	99.89	0	No comment
  ATM	100.00	0	No comment
  ATP1A3	100.00	0	No comment
  ATP2B2	100.00	0	No comment
  ATP2B3	99.89	0	No comment
  ATP7B	100.00	0	No comment
  ATP8A2	99.91	0	No comment
  ATXN1	100.00	0	No comment
  ATXN10	98.19	0	No comment
  ATXN2	93.25	0	No comment
  ATXN3	99.47	0	No comment
  ATXN7	98.67	0	No comment
  B9D1	99.89	0	No comment
  BBS1	100.00	0	No comment
  BBS10	100.00	0	No comment
  BBS12	100.00	0	No comment
  BBS2	100.00	0	No comment
  BBS4	99.97	0	No comment
  BBS5	100.00	0	No comment
  BBS7	99.99	0	No comment
  BBS9	99.93	0	No comment
  BEAN1	100.00	0	No comment
  BIVM	100.00	0	No comment
  BSCL2	100.00	0	No comment
  BTD	100.00	0	No comment
  TWNK	100.00	0	No comment
  MTRFR	100.00	0	No comment
  C19ORF12	100.00	0	No comment
  CPLANE1	100.00	0	No comment
  CA8	100.00	0	No comment
  CACNA1A	99.53	0	No comment
  CACNA1G	99.97	0	No comment
  CACNB4	99.95	0	No comment
  CAMTA1	99.98	0	No comment
  CAPN1	99.97	0	No comment
  CASK	99.99	0	No comment
  CC2D2A	100.00	0	No comment
  CCDC88C	99.64	0	No comment
  CEP290	100.00	0	No comment
  CEP41	100.00	0	No comment
  CHMP1A	100.00	0	No comment
  CLCN2	100.00	0	No comment
  CLN5	98.80	0	No comment
  CLN6	90.40	0	No comment
  CLPP	97.95	0	No comment
  COA7	100.00	0	No comment
  COASY	100.00	0	No comment
  COG5	99.95	0	No comment
  COQ2	99.66	0	No comment
  COQ6	100.00	0	No comment
  COQ9	100.00	0	No comment
  COX20	95.39	0	No comment
  CP	100.00	0	No comment
  CRAT	99.29	0	No comment
  CSTB	98.75	0	No comment
  CWF19L1	100.00	0	No comment
  CYP27A1	99.38	0	No comment
  CYP2U1	93.20	0	No comment
  CYP7B1	95.41	0	No comment
  DARS1	100.00	0	No comment
  DARS2	100.00	0	No comment
  DDB2	100.00	0	No comment
  DDHD2	100.00	0	No comment
  DLAT	100.00	0	No comment
  DMXL2	100.00	0	No comment
  DNAJC19	99.65	0	No comment
  DNAJC3	99.99	0	No comment
  DNAJC5	100.00	0	No comment
  DNMT1	99.54	0	No comment
  EBF3	99.94	0	No comment
  EEF2	100.00	0	No comment
  EIF2B1	100.00	0	No comment
  EIF2B2	99.61	0	No comment
  EIF2B3	98.87	0	No comment
  EIF2B4	100.00	0	No comment
  EIF2B5	100.00	0	No comment
  ELOVL4	100.00	0	No comment
  ELOVL5	100.00	0	No comment
  EPM2A	97.21	0	No comment
  ERCC2	99.22	0	No comment
  ERCC3	100.00	0	No comment
  ERCC4	99.99	0	No comment
  ERCC5	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
  FA2H	95.71	0	No comment
  FARS2	100.00	0	No comment
  FBXL4	100.00	0	No comment
  FDXR	100.00	0	No comment
  FGF14	100.00	0	No comment
  FLVCR1	100.00	0	No comment
  FMR1	99.99	0	No comment
  FOLR1	100.00	0	No comment
  FRMD7	99.98	0	No comment
  FXN	100.00	0	No comment
  GALC	98.98	0	No comment
  GBA1	100.00	0	No comment
  GBA2	100.00	0	No comment
  GBE1	100.00	0	No comment
  GCDH	100.00	0	No comment
  GCLC	99.98	0	No comment
  GCSH	73.97	0	No comment
  GFAP	100.00	0	No comment
  GJC2	96.72	0	No comment
  GLB1	100.00	0	No comment
  GLDC	97.39	0	No comment
  GLRX5	100.00	0	No comment
  GM2A	100.00	0	No comment
  GOSR2	100.00	0	No comment
  GPAA1	95.08	0	No comment
  GPR143	89.09	0	No comment
  ADGRG1	99.99	0	No comment
  GRID2	100.00	0	No comment
  GRM1	99.99	0	No comment
  GSS	100.00	0	No comment
  HARS2	100.00	0	No comment
  HEPACAM	99.85	0	No comment
  HERC1	100.00	0	No comment
  HEXA	100.00	0	No comment
  HEXB	99.19	0	No comment
  HIBCH	100.00	0	No comment
  HPRT1	92.71	0	No comment
  HTRA1	75.65	0	No comment
  IFRD1	98.86	0	No comment
  IGDCC3	95.07	0	No comment
  INPP5E	99.14	0	No comment
  IRF2BPL	97.56	0	No comment
  ITM2B	100.00	0	No comment
  ITPR1	99.99	0	No comment
  KCNA1	100.00	0	No comment
  KCNC3	76.20	0	No comment
  KCND3	100.00	0	No comment
  KCNJ10	100.00	0	No comment
  KCNJ6	100.00	0	No comment
  KCNMA1	99.93	0	No comment
  WASHC5	100.00	0	No comment
  RUBCN	96.60	0	No comment
  NEXMIF	100.00	0	No comment
  KIF1A	98.74	0	No comment
  KIF1C	100.00	0	No comment
  KIF5A	100.00	0	No comment
  KIF5C	100.00	0	No comment
  KIF7	99.64	0	No comment
  L2HGDH	99.75	0	No comment
  LAMA1	99.79	0	No comment
  LAMB1	100.00	0	No comment
  LARS2	100.00	0	No comment
  LMNB1	97.00	0	No comment
  LRPPRC	98.80	0	No comment
  LYST	100.00	0	No comment
  MFSD8	100.00	0	No comment
  MKKS	100.00	0	No comment
  MKS1	100.00	0	No comment
  MLC1	98.57	0	No comment
  MMACHC	100.00	0	No comment
  MME	100.00	0	No comment
  MRE11	99.05	0	No comment
  MSTO1	99.96	0	No comment
  MTFMT	97.83	0	No comment
  MTPAP	99.98	0	No comment
  MTRR	100.00	0	No comment
  MTTP	100.00	0	No comment
  MVK	100.00	0	No comment
  NANS	100.00	0	No comment
  NDUFAF6	95.61	0	No comment
  NDUFS1	100.00	0	No comment
  NDUFS2	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
  NEFL	99.62	0	No comment
  NEU1	100.00	0	No comment
  NHLRC1	96.01	0	No comment
  NKX6-2	94.10	0	No comment
  NOL3	100.00	0	No comment
  NOP56	99.99	0	No comment
  NOTCH3	93.46	0	No comment
  NPC1	97.50	0	No comment
  NPC2	100.00	0	No comment
  NPHP1	100.00	0	No comment
  NUBPL	99.92	0	No comment
  OCLN	100.00	0	No comment
  OFD1	97.13	0	No comment
  MED12	99.98	0	No comment
  OPA3	100.00	0	No comment
  OPHN1	99.94	0	No comment
  OTUD4	100.00	0	No comment
  PAX6	100.00	0	No comment
  PDGFRB	99.98	0	No comment
  PDHX	100.00	0	No comment
  PDSS1	85.11	0	No comment
  PDSS2	100.00	0	No comment
  PDYN	100.00	0	No comment
  PEX10	87.10	0	No comment
  PEX16	99.97	0	No comment
  PEX2	100.00	0	No comment
  PEX7	95.60	0	No comment
  PHYH	99.81	0	No comment
  PIK3R5	100.00	0	No comment
  PLA2G6	100.00	0	No comment
  PLEKHG4	100.00	0	No comment
  PLP1	100.00	0	No comment
  PMM2	100.00	0	No comment
  PMPCA	100.00	0	No comment
  PNKD	99.93	0	No comment
  PNKP	99.84	0	No comment
  PNPLA6	99.95	0	No comment
  POLG	100.00	0	No comment
  POLH	100.00	0	No comment
  POLR3A	100.00	0	No comment
  POLR3B	100.00	0	No comment
  PPP2R2B	100.00	0	No comment
  PRICKLE1	100.00	0	No comment
  PRKCG	100.00	0	No comment
  PRNP	99.92	0	No comment
  PRPS1	99.91	0	No comment
  PRRT2	100.00	0	No comment
  PTEN	99.45	0	No comment
  PUM1	100.00	0	No comment
  RAB18	99.99	0	No comment
  RAB3A	100.00	0	No comment
  RAB3GAP1	100.00	0	No comment
  RARS2	100.00	0	No comment
  RELN	100.00	0	No comment
  RNASEH2A	100.00	0	No comment
  RNASEH2C	100.00	0	No comment
  RNF170	100.00	0	No comment
  RNF216	100.00	0	No comment
  RPGRIP1L	96.40	0	No comment
  RRM2B	100.00	0	No comment
  SACS	99.95	0	No comment
  SAMD9L	100.00	0	No comment
  SAMHD1	100.00	0	No comment
  SAR1B	100.00	0	No comment
  SCN8A	100.00	0	No comment
  SEC16A	99.98	0	No comment
  SEPSECS	99.57	0	No comment
  SERAC1	100.00	0	No comment
  SETX	100.00	0	No comment
  SIL1	99.95	0	No comment
  SKOR1	98.57	0	No comment
  SLC16A2	99.97	0	No comment
  SLC17A5	100.00	0	No comment
  SLC19A3	99.90	0	No comment
  SLC1A3	100.00	0	No comment
  SLC20A2	100.00	0	No comment
  SLC25A15	100.00	0	No comment
  SLC25A46	100.00	0	No comment
  SLC2A1	100.00	0	No comment
  SLC39A8	98.92	0	No comment
  SLC52A2	100.00	0	No comment
  SLC52A3	99.86	0	No comment
  SLC9A1	100.00	0	No comment
  SLC9A6	99.66	0	No comment
  SMPD1	100.00	0	No comment
  SNX14	99.98	0	No comment
  SPAST	99.83	0	No comment
  SPG11	100.00	0	No comment
  SPG7	95.78	0	No comment
  SPR	99.98	0	No comment
  SPTBN2	99.93	0	No comment
  SRD5A3	98.61	0	No comment
  STUB1	99.69	0	No comment
  SYNE1	100.00	0	No comment
  SYT14	92.28	0	No comment
  TANGO2	99.94	0	No comment
  TBC1D20	95.06	0	No comment
  TBCC	100.00	0	No comment
  TBP	100.00	0	No comment
  TCTN1	100.00	0	No comment
  TCTN2	100.00	0	No comment
  TCTN3	100.00	0	No comment
  TDP1	100.00	0	No comment
  TDP2	100.00	0	No comment
  TGM6	100.00	0	No comment
  TK2	100.00	0	No comment
  TMEM138	100.00	0	No comment
  TMEM216	99.87	0	No comment
  TMEM231	100.00	0	No comment
  TMEM237	99.85	0	No comment
  TMEM240	96.75	0	No comment
  TMEM67	99.95	0	No comment
  ACD	99.99	0	No comment
  TRIM32	100.00	0	No comment
  TRPC3	99.48	0	No comment
  TSEN2	100.00	0	No comment
  TSEN34	100.00	0	No comment
  TSEN54	91.60	0	No comment
  TSFM	100.00	0	No comment
  TTBK2	100.00	0	No comment
  TTC19	100.00	0	No comment
  TTC8	99.73	0	No comment
  TTPA	96.80	0	No comment
  TUBB4A	100.00	0	No comment
  TUBG1	100.00	0	No comment
  TYMP	100.00	0	No comment
  UBA5	100.00	0	No comment
  VAMP1	100.00	0	No comment
  VLDLR	96.00	0	No comment
  VPS13A	100.00	0	No comment
  VPS13B	100.00	0	No comment
  VPS13D	100.00	0	No comment
  VRK1	100.00	0	No comment
  VWA3B	100.00	0	No comment
  WDPCP	99.11	0	No comment
  WDR73	100.00	0	No comment
  WDR81	99.63	0	No comment
  WFS1	100.00	0	No comment
  WWOX	100.00	0	No comment
  XPA	98.10	0	No comment
  XPC	100.00	0	No comment
  XPR1	99.91	0	No comment
  XRCC1	99.95	0	No comment
  ZC4H2	100.00	0	No comment
  ZFYVE26	100.00	0	No comment
  ZNF423	100.00	0	No comment
  ZNF592	100.00	0	No comment