TMPRSS3

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Name:	transmembrane serine protease 3
Symbol:	TMPRSS3
Version of Orphanet:	2023-06-22 14:14:43
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Hearing loss (deafness), (gene panel)

Related Diseases

• Rare autosomal recessive non-syndromic sensorineural deafness type DFNB

Related Gene Panels

• Hearing loss (deafness) (genepanel) - UZA
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABHD12	99.11	1
  ACTG1	100.00	1
  ADCY1	98.44	1
  ADGRV1	99.88	1
  AIFM1	99.43	1
  ATOH1	100.00	1
  ATP11A	99.99	1
  ATP2B2	99.96	1
  ATP6V0A4	99.83	1
  ATP6V1B1	99.92	1
  ATP6V1B2	99.91	1
  BDP1	99.89	1
  BSND	100.00	1
  CABP2	99.99	1
  CACNA1D	99.94	1
  CCDC50	99.92	1
  CD164	99.92	1
  CDC14A	99.95	1
  CDH23	99.95	1
  CEACAM16	99.92	1
  CEP250	99.98	1
  CEP78	99.83	1
  CHD7	99.96	1
  CIB2	99.99	1
  CISD2	99.95	1
  CLDN14	100.00	1
  CLIC5	99.98	1
  CLPP	100.00	1
  CLRN1	99.97	1
  COCH	99.90	1
  COL11A1	99.89	1
  COL11A2	99.35	1
  COL2A1	100.00	1
  COL4A3	99.94	1
  COL4A4	99.96	1
  COL4A5	99.18	1
  COL4A6	99.37	1
  COL9A1	99.98	1
  COL9A2	99.95	1
  COL9A3	99.86	1
  CRYL1	99.89	1
  CRYM	99.91	1
  DCDC2	99.93	1
  DIABLO	99.98	1
  DIAPH1	97.50	1
  DIAPH3	99.86	1
  DMXL2	99.40	1
  DNAAF10	99.97	1
  EDN3	100.00	1
  EDNRB	99.94	1
  ELMOD3	100.00	1
  EPHA10	97.51	1
  EPS8	99.87	1
  EPS8L2	99.87	1
  ERAL1	99.97	1
  ESPN	96.05	1
  ESRP1	99.81	1
  ESRRB	100.00	1
  EYA1	99.93	1
  EYA4	99.98	1
  FDXR	99.98	1
  FGF3	98.11	1
  FOXI1	100.00	1
  GATA3	99.89	1
  GIPC3	97.45	1
  GJB2	100.00	1
  GJB3	100.00	1
  GJB6	100.00	1
  GPSM2	99.94	1
  GRHL2	99.95	1
  GRXCR1	100.00	1
  GRXCR2	99.91	1
  GSDME	99.97	1
  HARS1	99.99	1
  HARS2	99.51	1
  HECTD3	99.39	1
  HGF	99.96	1
  HOMER2	99.74	1
  HOXA2	99.93	1
  HSD17B4	99.80	1
  IFNLR1	99.52	1
  ILDR1	99.95	1
  KARS1	99.91	1
  KCNE1	100.00	1
  KCNJ10	100.00	1
  KCNQ1	99.87	1
  KCNQ4	99.49	1
  KITLG	99.87	1
  LARS2	99.99	1
  LHFPL5	99.99	1
  LMX1A	100.00	1
  LOXHD1	99.73	1
  LRTOMT	99.99	1
  MARVELD2	99.96	1
  MCM2	99.96	1
  MET	99.97	1
  MIR96	100.00	1
  MITF	99.97	1
  MPZL2	99.96	1
  MSRB3	99.96	1
  MTAP	98.96	1
  MYH14	99.79	1
  MYH9	100.00	1
  MYO15A	99.59	1
  MYO3A	99.84	1
  MYO6	99.77	1
  MYO7A	99.99	1
  NARS2	99.94	1
  NDP	99.95	1
  NLRP3	99.90	1
  OSBPL2	100.00	1
  OTOA	99.83	1
  OTOF	99.95	1
  OTOG	99.99	1
  OTOGL	99.63	1
  P2RX2	99.91	1
  PAX3	99.98	1
  PCDH15	99.94	1
  PDE1C	99.92	1
  PDZD7	99.82	1
  PI4KB	99.55	1
  PJVK	99.79	1
  PLS1	99.80	1
  PNPT1	99.86	1
  POLR1B	99.95	1
  POLR1C	97.52	1
  POLR1D	99.72	1
  POU3F4	99.94	1
  POU4F3	100.00	1
  PPIP5K2	99.83	1
  PRPS1	99.79	1
  PTPRQ	99.83	1
  RDX	99.80	1
  REST	99.96	1
  RIPOR2	99.96	1
  ROR1	98.58	1
  S1PR2	100.00	1
  SALL1	99.99	1
  SEMA3E	99.97	1
  SERPINB6	98.21	1
  SIX1	100.00	1
  SIX5	99.87	1
  SLC12A2	98.96	1
  SLC17A8	99.95	1
  SLC22A4	99.96	1
  SLC26A4	99.95	1
  SLC26A5	99.95	1
  SLC4A11	99.99	1
  SLC7A8	99.99	1
  SLITRK6	100.00	1
  SMPX	99.37	1
  SNAI2	99.98	1
  SOX10	100.00	1
  SPATC1L	100.00	1
  SSBP1	99.99	1
  STRC	99.73	1
  SYNE4	100.00	1
  TBC1D24	99.97	1
  TCOF1	99.96	1
  TECTA	99.97	1
  THRAP3	99.89	1
  TIMM8A	99.78	1
  TJP2	99.94	1
  TMC1	99.83	1
  TMEM132E	99.75	1
  TMIE	99.95	1
  TMPRSS3	99.95	1
  TMTC2	99.96	1
  TNC	99.97	1
  TPRN	90.56	1
  TRIOBP	99.09	1
  TSPEAR	99.97	1
  TWNK	100.00	1
  USH1C	98.72	1
  USH1G	99.96	1
  USH2A	99.95	1
  USP48	99.80	1
  WBP2	99.86	1
  WFS1	100.00	1
  WHRN	99.69	1