VWA1

Analyte Export to PDF

Name:	von Willebrand factor A domain containing 1
Symbol:	VWA1
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	FLJ22215 VWA-1 WARP
XREF(s):	Orphanet SwissProt OMIM Ensembl HGNC
Created:	20 Aug 2021 - 01:08
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Myopathy (gene panel)
• Peripheral neuropathy (gene panel)

Related Diseases

• Young adult-onset distal hereditary motor neuropathy

Related Gene Panels

• Myopathy (genepanel) - UZA
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABHD5	99.64	1
  ACAD9	99.97	1
  ACADM	99.64	1
  ACADS	100.00	1
  ACADVL	99.94	1
  ACTA1	99.99	1
  ACTN2	99.96	1
  ADSS1	99.99	1
  AGK	99.98	1
  AGL	99.92	1
  AGRN	99.83	1
  ALDOA	100.00	1
  ALG14	99.97	1
  ALG2	99.95	1
  ANO5	99.96	1
  ANXA11	99.88	1
  ASCC1	91.38	1
  ATP1A2	99.96	1
  ATP2A1	99.97	1
  B3GALNT2	94.03	1
  B4GAT1	99.95	1
  BAG3	100.00	1
  BIN1	100.00	1
  BVES	99.97	1
  CACNA1S	99.92	1
  CAP2	99.97	1
  CAPN3	99.98	1
  CASQ1	99.91	1
  CAV3	99.85	1
  CAVIN1	99.99	1
  CFL2	99.81	1
  CHAT	99.77	1
  CHD7	99.96	1
  CHKB	99.89	1
  CHRNA1	99.96	1
  CHRNB1	99.99	1
  CHRND	100.00	1
  CHRNE	99.95	1
  CHRNG	99.87	1
  CLCN1	99.97	1
  CNBP	99.97	1
  COL12A1	99.95	1
  COL13A1	99.56	1
  COL25A1	99.96	1
  COL6A1	100.00	1
  COL6A2	99.96	1
  COL6A3	99.99	1
  COLQ	99.97	1
  COX6A2	98.51	1
  CPT2	99.99	1
  CRPPA	99.59	1
  CRYAB	99.98	1
  DAG1	100.00	1
  DCST2	99.92	1
  DES	100.00	1
  DGUOK	99.76	1
  DMD	99.41	1
  DMPK	99.98	1
  DNAJB6	99.91	1
  DNM2	99.96	1
  DNMT3B	99.98	1
  DOK7	99.73	1
  DPAGT1	99.96	1
  DPM2	100.00	1
  DPM3	100.00	1
  DYSF	99.99	1
  EMD	97.92	1
  ENO3	99.98	1
  ETFA	99.84	1
  ETFDH	99.76	1
  FAM111B	99.99	1
  FDX2	99.94	1
  FHL1	99.92	1
  FKRP	99.99	1
  FKTN	99.91	1
  FLAD1	100.00	1
  FLNC	99.99	1
  FXR1	99.81	1
  GAA	99.99	1
  GBE1	99.84	1
  GFER	99.96	1
  GFPT1	99.90	1
  GGPS1	99.89	1
  GMPPB	99.95	1
  GNE	99.98	1
  GYG1	99.97	1
  GYS1	99.98	1
  HACD1	99.78	1
  HADH	99.97	1
  HADHA	99.96	1
  HADHB	99.97	1
  HNRNPA1	100.00	1
  HNRNPA2B1	99.95	1
  HNRNPDL	99.92	1
  INPP5K	99.99	1
  ISCU	99.94	1
  ITGA7	99.98	1
  ITGA9	99.80	1
  JAG2	98.50	1
  KBTBD13	100.00	1
  KCNJ2	100.00	1
  KIF21A	99.80	1
  KLHL40	100.00	1
  KLHL41	99.96	1
  KLHL9	100.00	1
  KY	98.80	1
  LAMA2	99.97	1
  LAMB2	99.99	1
  LAMP2	98.98	1
  LARGE1	99.99	1
  LDB3	98.02	1
  LDHA	99.77	1
  LIMS2	99.65	1
  LMNA	99.98	1
  LMOD3	99.96	1
  LPIN1	99.97	1
  LRP4	99.98	1
  MAP3K20	99.92	1
  MATR3	99.87	1
  MB	99.99	1
  MEGF10	99.90	1
  MICU1	99.98	1
  MLIP	99.94	1
  MSTO1	98.87	1
  MTM1	99.36	1
  MUSK	99.97	1
  MYBPC1	99.90	1
  MYBPC3	99.98	1
  MYH14	99.79	1
  MYH2	99.97	1
  MYH3	99.96	1
  MYH7	100.00	1
  MYL1	99.93	1
  MYL2	99.98	1
  MYMX	100.00	1
  MYO18B	99.98	1
  MYO9A	99.91	1
  MYOD1	99.82	1
  MYOT	99.98	1
  MYPN	99.97	1
  NEB	99.77	1
  NPL	99.95	1
  OPA1	99.87	1
  ORAI1	97.73	1
  PABPN1	99.67	1
  PAX7	99.96	1
  PFKM	99.82	1
  PGAM2	100.00	1
  PGK1	99.71	1
  PGM1	99.89	1
  PHKA1	99.57	1
  PHKB	99.79	1
  PHOX2A	96.75	1
  PLEC	99.98	1
  PNPLA2	99.99	1
  PNPLA8	99.81	1
  POGLUT1	99.91	1
  POLG	99.98	1
  POLG2	99.68	1
  POMGNT1	99.98	1
  POMGNT2	100.00	1
  POMK	99.98	1
  POMT1	99.91	1
  POMT2	99.93	1
  POPDC3	99.93	1
  PREPL	99.96	1
  PRKAG2	99.92	1
  PYGM	99.98	1
  PYROXD1	99.83	1
  RAPSN	99.99	1
  RBCK1	99.99	1
  RXYLT1	99.53	1
  RYR1	99.92	1
  SCN4A	99.77	1
  SELENON	95.81	1
  SGCA	99.99	1
  SGCB	99.62	1
  SGCD	99.94	1
  SGCG	99.87	1
  SIL1	99.99	1
  SLC18A3	100.00	1
  SLC22A5	99.99	1
  SLC25A20	99.90	1
  SLC25A4	99.96	1
  SLC5A7	99.97	1
  SMCHD1	99.82	1
  SMPX	99.37	1
  SPEG	99.97	1
  SQSTM1	100.00	1
  STAC3	99.94	1
  STIM1	99.97	1
  SVIL	99.94	1
  SYNE1	99.96	1
  SYNE2	99.85	1
  SYT2	99.89	1
  TCAP	100.00	1
  TIA1	99.56	1
  TK2	99.99	1
  TMEM126B	99.68	1
  TMEM43	99.98	1
  TNNC2	99.95	1
  TNNI2	100.00	1
  TNNT1	99.82	1
  TNNT3	100.00	1
  TNPO3	99.95	1
  TNXB	99.95	1
  TOP3A	99.95	1
  TOR1AIP1	99.84	1
  TPI1	99.95	1
  TPM2	99.93	1
  TPM3	99.95	1
  TRAPPC11	99.59	1
  TRDN	99.03	1
  TRIM32	100.00	1
  TRIP4	99.91	1
  TRMT5	99.83	1
  TTN	99.96	1
  TUBB3	100.00	1
  TWNK	100.00	1
  UNC45B	99.93	1
  VAMP1	99.70	1
  VCP	99.92	1
  VMA21	97.04	1
  VWA1	91.35	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