PCYT2

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Name:	phosphate cytidylyltransferase 2, ethanolamine
Symbol:	PCYT2
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	CTP:phosphoethanolamine cytidylyltransferase ET ethanolamine-phosphate cytidylyltransferase: phosphorylethanolamine transferase
XREF(s):	Orphanet HGNC OMIM Ensembl SwissProt
Created:	26 Oct 2023 - 23:41
Changed:	26 Oct 2023 - 23:49

Related Genetic Tests

• Hereditary Spastic Paraplegia (gene panel)
• Peripheral neuropathy (gene panel)
• Spastic Paraplegia (gene panel)

Related Diseases

• Autosomal recessive spastic paraplegia type 82

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

• Neuropathy (genepanel) - UZA
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AARS1	99.94	1
  ABCA1	99.92	1
  ABHD12	99.11	1
  ADPRS	100.00	1
  AGTPBP1	99.40	1
  AIFM1	99.43	1
  ARHGEF10	100.00	1
  ARSA	100.00	1
  ATL1	99.95	1
  ATL3	99.86	1
  ATM	99.83	1
  ATP1A1	99.94	1
  ATP7A	99.35	1
  B4GALNT1	99.95	1
  BAG3	100.00	1
  BICD2	100.00	1
  BSCL2	100.00	1
  CADM3	99.94	1
  CD59	99.97	1
  CFAP276	99.73	1
  CHCHD10	97.06	1
  CLTCL1	99.98	1
  CNTNAP1	99.80	1
  COA7	100.00	1
  COX20	99.40	1
  COX6A1	99.99	1
  CTDP1	98.02	1
  CTNNB1	99.98	1
  CYP27A1	99.96	1
  DARS2	99.86	1
  DCAF8	99.98	1
  DCTN1	99.95	1
  DGAT2	99.99	1
  DGUOK	99.76	1
  DHTKD1	99.88	1
  DNAJB2	100.00	1
  DNAJC3	99.58	1
  DNM2	99.96	1
  DNMT1	99.88	1
  DRP2	99.45	1
  DST	99.92	1
  DYNC1H1	99.97	1
  EGR2	100.00	1
  ELP1	99.96	1
  ETFDH	99.76	1
  FBLN5	92.79	1
  FBXO38	99.93	1
  FGD4	99.89	1
  FIG4	99.94	1
  FLVCR1	99.93	1
  FXN	97.92	1
  GALC	99.88	1
  GAN	99.84	1
  GARS1	99.86	1
  GBA2	99.97	1
  GBE1	99.84	1
  GBF1	99.95	1
  GDAP1	99.93	1
  GJB1	99.99	1
  GJB3	100.00	1
  GJC2	96.12	1
  GLA	99.64	1
  GNB4	99.95	1
  GSN	97.83	1
  HADHA	99.96	1
  HADHB	99.97	1
  HARS1	99.99	1
  HINT1	99.96	1
  HK1	96.86	1
  HNRNPA1	100.00	1
  HOXD10	100.00	1
  HSPB1	99.83	1
  HSPB3	100.00	1
  HSPB8	99.90	1
  IARS2	99.96	1
  IFRD1	99.96	1
  IGHMBP2	99.99	1
  INF2	97.15	1
  ITPR3	99.88	1
  JAG1	99.92	1
  KIF1A	99.96	1
  KIF5A	99.93	1
  LITAF	100.00	1
  LMNA	99.98	1
  LRSAM1	99.97	1
  LYST	99.92	1
  MCM3AP	99.96	1
  MFN2	99.96	1
  MMACHC	99.99	1
  MME	97.69	1
  MORC2	99.98	1
  MPV17	100.00	1
  MPZ	99.97	1
  MTMR2	99.98	1
  MTRFR	99.85	1
  MYH14	99.79	1
  NAGA	99.99	1
  NAGLU	98.00	1
  NARS1	99.74	1
  NDRG1	100.00	1
  NEFH	98.77	1
  NEFL	99.99	1
  NGF	99.99	1
  NTRK1	99.67	1
  PCYT2	97.60	1
  PDK3	98.86	1
  PEX7	99.87	1
  PHYH	99.65	1
  PIEZO2	99.88	1
  PLD3	99.99	1
  PLEKHG5	99.66	1
  PLP1	99.93	1
  PMM2	99.94	1
  PMP2	99.95	1
  PMP22	100.00	1
  PNKP	100.00	1
  PNPLA6	99.88	1
  POLG	99.98	1
  POLR3B	99.88	1
  PPOX	99.94	1
  PRDM12	99.60	1
  PRKCG	99.90	1
  PRNP	100.00	1
  PRPS1	99.79	1
  PRX	99.94	1
  PTEN	99.15	1
  PTPN11	99.91	1
  PTRH2	99.97	1
  RAB7A	99.94	1
  REEP1	99.99	1
  RETREG1	99.92	1
  RFC1	99.44	1
  SACS	99.98	1
  SBF1	99.97	1
  SBF2	99.92	1
  SCARB2	99.94	1
  SCN10A	99.97	1
  SCN11A	99.77	1
  SCN9A	99.96	1
  SCO2	100.00	1
  SCYL1	99.64	1
  SEPTIN9	99.94	1
  SETX	99.96	1
  SH3TC2	99.98	1
  SIGMAR1	99.99	1
  SLC12A6	99.88	1
  SLC25A19	99.99	1
  SLC25A46	99.93	1
  SLC52A2	100.00	1
  SLC52A3	100.00	1
  SLC5A7	99.97	1
  SORD	92.86	1
  SOX10	100.00	1
  SPAST	99.83	1
  SPG11	99.94	1
  SPG7	99.99	1
  SPTAN1	99.97	1
  SPTBN4	99.19	1
  SPTLC1	99.98	1
  SPTLC2	99.94	1
  SPTLC3	99.94	1
  SURF1	97.64	1
  SYT2	99.89	1
  TBCE	99.69	1
  TBCK	99.76	1
  TECPR2	99.90	1
  TFG	99.34	1
  TRIM2	99.99	1
  TRPV4	99.96	1
  TTPA	99.97	1
  TTR	100.00	1
  TUBB3	100.00	1
  TWNK	100.00	1
  UCHL1	99.99	1
  VAPB	99.94	1
  VCP	99.92	1
  VPS13A	99.60	1
  VRK1	99.94	1
  VWA1	91.35	1
  WARS1	99.79	1
  WNK1	99.94	1
  XRCC1	99.94	1
  YARS1	99.96	1
  ZFHX2	99.98	1
  ZFYVE26	99.96	1

• 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