BMS1

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Name:	BMS1 ribosome biogenesis factor
Symbol:	BMS1
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	KIAA0187
XREF(s):	Orphanet Reactome Ensembl Genatlas HGNC OMIM SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Skin disorders (gene panel)

Related Diseases

• Aplasia cutis congenita

Related Gene Panels

• Skin disorders - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AAAS	99.88	1
  AAGAB	100.00	1
  ABCA12	99.94	1
  ABCB6	99.97	1
  ABHD5	99.98	1
  ADAM10	99.88	1
  ADAR	99.84	1
  ADGRE2	98.77	1
  ALDH3A2	99.95	1
  ALOX12B	100.00	1
  ALOXE3	99.98	1
  ALX4	100.00	1
  ANTXR1	99.83	1
  ANTXR2	99.67	1
  AP1S1	99.49	1
  AP3B1	99.89	1
  AP3D1	100.00	1
  APCDD1	99.99	1
  AQP5	99.88	1
  ARHGAP31	100.00	1
  ARSL	99.93	1
  ATP2A2	99.98	1
  ATP6V1B2	99.99	1
  ATP7A	99.87	1
  AXIN2	100.00	1
  BANF1	99.84	1
  BCS1L	99.99	1
  BLM	99.80	1
  BLOC1S3	100.00	1
  BLOC1S6	99.98	1
  BMS1	85.80	1
  BRAF	99.78	1
  C1QA	99.99	1
  C1QB	99.58	1
  C1QC	99.97	1
  C5	99.92	1
  CARD11	99.97	1
  CARD14	99.99	1
  CASP10	99.85	1
  CASP14	99.86	1
  CASP8	99.92	1
  CAST	99.94	1
  CBL	99.95	1
  CD151	100.00	1
  CDH1	99.98	1
  CDH3	99.98	1
  CDKN1B	100.00	1
  CDKN1C	100.00	1
  CDSN	99.94	1
  CERS3	99.85	1
  CHST8	100.00	1
  CHUK	99.83	1
  CLDN1	99.99	1
  CLDN10	99.97	1
  COG6	99.86	1
  COL17A1	99.98	1
  COL18A1	99.99	1
  COL7A1	99.99	1
  COX7B	99.86	1
  CYP11B1	100.00	1
  CSTB	99.99	1
  CSTA	99.83	1
  CTLA4	99.99	1
  CTSC	99.97	1
  CYLD	99.46	1
  CYP11A1	99.99	1
  CYP21A2	99.85	1
  CYP26C1	99.92	1
  CYP4F22	99.97	1
  DCAF17	99.84	1
  DCLRE1C	99.79	1
  DCPS	99.98	1
  DDB2	100.00	1
  DHCR24	99.93	1
  DIP2B	99.65	1
  DKC1	99.59	1
  DLL4	100.00	1
  DOCK6	100.00	1
  DOCK8	99.86	1
  DPH1	100.00	1
  DSC3	99.73	1
  DSG1	99.35	1
  DSG3	99.97	1
  DSG4	99.91	1
  DSP	100.00	1
  DST	99.52	1
  DSTYK	99.83	1
  DTNBP1	99.89	1
  GLB1	99.92	1
  EDA	99.44	1
  EDAR	99.89	1
  EDARADD	99.98	1
  EDN3	100.00	1
  EDNRA	99.97	1
  EDNRB	99.99	1
  ELOVL4	99.91	1
  ENPP1	99.88	1
  EOGT	99.09	1
  EPG5	99.95	1
  ERCC2	99.98	1
  ERCC3	99.90	1
  ERCC4	99.92	1
  ERCC5	99.99	1
  ERCC6	99.60	1
  ERCC8	99.79	1
  EVC	99.95	1
  EVC2	99.97	1
  EXPH5	99.81	1
  F12	99.99	1
  FAM111B	99.98	1
  FAS	99.99	1
  FASLG	99.84	1
  FECH	99.98	1
  FERMT1	99.90	1
  FGFR1	98.88	1
  FGFR3	100.00	1
  FOXN1	99.97	1
  FZD6	99.95	1
  GBA1	96.92	1
  GINS1	99.99	1
  GJA1	100.00	1
  GJB2	100.00	1
  GJB3	99.99	1
  GJB4	100.00	1
  GJB6	100.00	1
  GPR143	99.60	1
  GREM2	100.00	1
  GRHL2	100.00	1
  GRIN2B	99.99	1
  GTF2E2	100.00	1
  GTF2H5	100.00	1
  HCCS	99.90	1
  HOXC13	99.98	1
  HPGD	99.98	1
  HPS1	100.00	1
  HPS3	99.91	1
  HPS4	99.98	1
  HPS5	99.91	1
  HPS6	100.00	1
  HR	99.95	1
  HRAS	100.00	1
  HSPA9	99.96	1
  IFT122	99.98	1
  IFT43	99.97	1
  IKBKG	57.34	1
  IL2RA	99.99	1
  IL31RA	100.00	1
  ITGA3	99.86	1
  ITGA6	99.78	1
  ITGB4	99.99	1
  ITPR2	99.13	1
  JUP	99.94	1
  KCNH1	99.92	1
  KCTD1	99.99	1
  KDF1	99.86	1
  KDSR	99.99	1
  KEAP1	100.00	1
  KIT	99.86	1
  KITLG	99.46	1
  KLHL24	99.90	1
  KRAS	99.13	1
  KREMEN1	99.88	1
  KRT1	99.89	1
  KRT10	100.00	1
  KRT13	99.98	1
  KRT14	99.99	1
  KRT16	100.00	1
  KRT17	100.00	1
  KRT2	99.88	1
  KRT3	99.89	1
  KRT5	99.98	1
  KRT6A	100.00	1
  KRT6B	99.95	1
  KRT6C	96.59	1
  KRT7	99.87	1
  KRT74	99.92	1
  KRT83	100.00	1
  KRT85	99.97	1
  KRT9	100.00	1
  LAMA4	99.90	1
  LAMB3	99.99	1
  LAMC2	99.54	1
  LBR	99.66	1
  LIPH	99.99	1
  LIPN	99.94	1
  LMNA	99.96	1
  LMNB2	99.99	1
  LORICRIN	100.00	1
  LPAR6	99.99	1
  LRMDA	99.87	1
  LRP1	99.94	1
  LYST	99.87	1
  LZTR1	99.46	1
  MBTPS2	99.81	1
  MC1R	100.00	1
  MC2R	100.00	1
  MC4R	100.00	1
  MCM4	99.96	1
  MEN1	99.98	1
  MITF	99.98	1
  MLPH	100.00	1
  MMP1	99.99	1
  MPDU1	99.97	1
  MPLKIP	99.99	1
  MSX1	100.00	1
  MYO5A	99.94	1
  NECTIN1	99.99	1
  NECTIN4	99.97	1
  NF1	99.88	1
  NFKBIA	99.99	1
  NIPAL4	100.00	1
  NLRC4	99.95	1
  NLRP1	95.26	1
  NLRP12	99.99	1
  NLRP3	100.00	1
  NNT	99.87	1
  NOP10	99.99	1
  NOTCH1	99.98	1
  NR5A1	99.92	1
  NRAS	99.66	1
  NSDHL	99.87	1
  OCA2	99.60	1
  OSMR	99.95	1
  PADI3	99.35	1
  PAX3	100.00	1
  PAX6	99.95	1
  PDGFRB	99.99	1
  PEPD	99.98	1
  PEX7	99.72	1
  PGM3	99.94	1
  PHGDH	99.79	1
  PHYH	100.00	1
  PIEZO1	99.98	1
  PIGL	99.98	1
  PIGT	99.95	1
  PKP1	99.98	1
  PLCD1	99.98	1
  PLCG2	99.99	1
  PLEC	100.00	1
  PMVK	99.60	1
  PNPLA1	99.98	1
  PNPLA2	100.00	1
  PNPLA6	99.99	1
  POFUT1	100.00	1
  POGLUT1	99.99	1
  POLA1	99.57	1
  POLH	99.85	1
  POMC	99.99	1
  NT5C3A	99.95	1
  PORCN	99.93	1
  HCRT	99.85	1
  PRKCD	99.96	1
  PRKD1	99.96	1
  PSAT1	99.98	1
  PSENEN	100.00	1
  PSMB8	99.96	1
  PTCH1	99.99	1
  PTEN	99.89	1
  PTPN11	99.98	1
  PTPRF	99.92	1
  RAB27A	99.94	1
  RAD50	99.75	1
  RAF1	99.97	1
  RAG1	100.00	1
  RAG2	100.00	1
  RBM28	99.99	1
  RBPJ	99.96	1
  RECQL4	100.00	1
  RET	99.97	1
  RHBDF2	99.95	1
  RIN2	99.99	1
  RIT1	99.78	1
  RMRP	100.00	1
  RSPO1	99.99	1
  SCN9A	99.83	1
  SDR9C7	99.99	1
  SERPINB7	99.93	1
  SERPINB8	99.98	1
  SERPING1	100.00	1
  SGPL1	99.95	1
  SHOC2	99.96	1
  SLC24A5	99.99	1
  SLC27A4	100.00	1
  SLC29A3	99.98	1
  SLC39A4	100.00	1
  SLC45A2	100.00	1
  SLURP1	100.00	1
  SMARCA2	99.95	1
  SMARCAD1	99.86	1
  SNAI2	100.00	1
  SNAP29	99.85	1
  SNRPE	99.26	1
  SOS1	99.68	1
  SOS2	99.39	1
  SOX10	100.00	1
  SOX18	100.00	1
  SPINK5	99.91	1
  SPINT1	100.00	1
  SPRED1	99.99	1
  SRD5A3	99.94	1
  ST14	100.00	1
  ST3GAL5	99.96	1
  STAT3	99.97	1
  STIM1	99.99	1
  STK11	100.00	1
  STS	99.81	1
  SULT2B1	99.92	1
  SUMF1	99.95	1
  TAT	99.99	1
  TCHH	99.94	1
  TERC	98.59	1
  TGM1	99.82	1
  TGM3	100.00	1
  TGM5	100.00	1
  TINF2	100.00	1
  TP63	99.97	1
  TRPM1	99.96	1
  TRPS1	100.00	1
  TRPV3	99.90	1
  TWIST2	100.00	1
  TXNRD2	99.97	1
  TYRP1	99.97	1
  UBR1	99.93	1
  UROD	99.32	1
  UROS	100.00	1
  USB1	89.62	1
  VCX	96.04	1
  VCX3A	85.19	1
  WDR19	99.80	1
  WDR35	99.92	1
  WNT10A	100.00	1
  XPA	99.68	1
  XPC	99.98	1
  ZMPSTE24	98.70	1