PCDH15

Analyte Export to PDF

Name:	protocadherin related 15
Symbol:	PCDH15
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	CDHR15 cadherin-related family member 15
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)
• Retinal dystrophy / RETNET (gene panel)
• Usher syndrome (gene panel)

Related Diseases

• Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
• Usher syndrome type 1

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

• Hearing loss (deafness) syndromic (59 genes) - UZA
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ATP6V0A4
  ATP6V1B1
  BSND
  CDH23
  CHD7
  CISD2
  CLPP
  CLRN1
  COL11A1
  COL11A2
  COL2A1
  COL4A3
  COL4A4
  COL4A5
  COL9A1
  COL9A2
  COL9A3
  WHRN
  DIAPH1
  EDN3
  EDNRB
  ERAL1
  EYA1
  ADGRV1
  HARS1
  HARS2
  HSD17B4
  KCNE1
  KCNQ1
  KITLG
  LARS2
  MITF
  MT-RNR1
  MT-TL1
  MT-TS1
  MYH9
  MYO7A
  NARS2
  NDP
  NLRP3
  PAX3
  PCDH15
  PDZD7
  TWNK
  POLR1C
  POLR1D
  SEMA3E
  SIX1
  SIX5
  SLC26A4
  SLITRK6
  SNAI2
  SOX10
  TBC1D24
  TCOF1
  USH1C
  USH1G
  USH2A
  WFS1

• Retinal dystrophy - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCA4	99.30	1
  ABCC6	98.57	1
  ABHD12	99.98	1
  ACBD5	99.97	1
  ACO2	99.99	1
  ADAM9	99.89	1
  ADAMTS18	99.99	1
  ADGRA3	99.90	1
  ADGRV1	99.80	1
  ADIPOR1	99.83	1
  AFG3L2	99.97	1
  AGBL5	99.98	1
  AHI1	99.86	1
  AHR	99.79	1
  AIPL1	100.00	1
  ALMS1	99.90	1
  ARHGEF18	99.97	1
  ARL2BP	99.89	1
  ARL3	99.98	1
  ARL6	99.90	1
  ARMS2	100.00	1
  ARSG	100.00	1
  ASRGL1	99.84	1
  ATF6	98.19	1
  ATXN7	99.98	1
  BBIP1	99.99	1
  BBS1	100.00	1
  BBS10	99.98	1
  BBS12	100.00	1
  BBS2	99.90	1
  BBS4	99.88	1
  BBS5	99.00	1
  BBS7	99.42	1
  BBS9	99.75	1
  BEST1	99.86	1
  MFRP	100.00	1
  C2	99.99	1
  C3	100.00	1
  CA4	100.00	1
  CABP4	100.00	1
  CACNA1F	99.94	1
  CACNA2D4	99.99	1
  CAPN5	99.88	1
  CC2D2A	99.95	1
  CCT2	98.46	1
  CDH23	99.95	1
  CDH3	99.98	1
  CDHR1	99.72	1
  CEP164	99.99	1
  CEP19	99.99	1
  CEP250	99.93	1
  CEP290	98.10	1
  CEP78	99.95	1
  CERKL	99.91	1
  CFAP410	100.00	1
  CFAP418	100.00	1
  CFB	99.97	1
  CFH	99.12	1
  CHM	96.46	1
  CIB2	100.00	1
  CLCC1	93.17	1
  CLN3	99.92	1
  CLRN1	99.99	1
  CLUAP1	99.95	1
  CNGA1	99.60	1
  CNGA3	99.95	1
  CNGB1	97.53	1
  CNGB3	99.96	1
  CNNM4	99.93	1
  COL11A1	90.72	1
  COL2A1	99.87	1
  COL9A1	99.91	1
  CRB1	99.73	1
  CRX	99.96	1
  CSPP1	98.31	1
  CTNNA1	99.98	1
  CWC27	99.67	1
  CYP4V2	99.98	1
  DHDDS	98.65	1
  DHX38	99.97	1
  DMD	99.76	1
  DRAM2	96.06	1
  DTHD1	99.92	1
  DYNC2H1	99.66	1
  EFEMP1	99.68	1
  ELOVL1	100.00	1
  ELOVL4	99.91	1
  EMC1	99.85	1
  ERCC6	99.60	1
  ESPN	100.00	1
  EXOSC2	100.00	1
  EYS	99.86	1
  FAM161A	99.77	1
  FBLN5	100.00	1
  FBN2	99.90	1
  FLVCR1	99.91	1
  FSCN2	100.00	1
  FZD4	100.00	1
  GDF6	100.00	1
  GNAT1	100.00	1
  GNAT2	99.87	1
  GNB3	100.00	1
  GNPTG	100.00	1
  GPR179	99.99	1
  GRID2	99.97	1
  GRK1	99.99	1
  GRM6	100.00	1
  GUCA1A	100.00	1
  GUCA1B	99.99	1
  GUCY2D	100.00	1
  HARS1	99.96	1
  HGSNAT	99.93	1
  HK1	99.97	1
  HMCN1	99.44	1
  HMX1	100.00	1
  HTRA1	100.00	1
  IDH3A	99.98	1
  IDH3B	100.00	1
  IFT140	100.00	1
  IFT172	99.98	1
  IFT27	100.00	1
  IFT43	99.97	1
  IFT81	94.64	1
  IFT88	98.26	1
  IMPDH1	92.77	1
  IMPG1	99.93	1
  IMPG2	99.97	1
  INPP5E	99.85	1
  INVS	99.94	1
  IQCB1	99.72	1
  ITM2B	99.85	1
  JAG1	100.00	1
  KCNJ13	99.99	1
  KCNV2	99.97	1
  KIAA1549	99.98	1
  KIF11	99.84	1
  KIF3B	99.99	1
  KIZ	99.98	1
  KLHL7	99.95	1
  LAMA1	99.98	1
  LAMB2	99.99	1
  LCA5	99.89	1
  LRAT	100.00	1
  LRIT3	100.00	1
  LRP5	99.95	1
  LZTFL1	100.00	1
  MAK	99.47	1
  MAPKAPK3	99.97	1
  MERTK	98.90	1
  MFN2	99.98	1
  MFSD8	99.70	1
  MIR204	100.00	1
  MKKS	100.00	1
  MKS1	99.92	1
  MTRFR	99.87	1
  MTTP	99.92	1
  MVK	99.97	1
  MYO7A	99.96	1
  NBAS	99.86	1
  NDP	99.98	1
  NEK2	95.09	1
  NEUROD1	100.00	1
  NMNAT1	99.93	1
  NPHP1	99.05	1
  NPHP3	99.89	1
  NPHP4	99.98	1
  NR2E3	100.00	1
  NR2F1	99.99	1
  NRL	100.00	1
  NYX	100.00	1
  OAT	90.17	1
  OFD1	99.68	1
  MED12	99.95	1
  OPA3	100.00	1
  OPN1LW	71.75	1
  OPN1MW	30.23	1
  OPN1SW	99.97	1
  OTX2	100.00	1
  PANK2	99.99	1
  PAX2	99.99	1
  PCARE	100.00	1
  PCDH15	99.71	1
  PCYT1A	100.00	1
  PDE6A	99.98	1
  PDE6B	100.00	1
  PDE6C	99.91	1
  PDE6G	100.00	1
  PDE6H	99.97	1
  PDZD7	98.09	1
  PEX1	98.80	1
  PEX2	100.00	1
  PEX6	99.99	1
  PEX7	99.72	1
  PGK1	99.93	1
  PHYH	100.00	1
  PITPNM3	99.98	1
  PLA2G5	99.91	1
  PLK4	99.89	1
  PNPLA6	99.99	1
  POC1B	100.00	1
  POC5	99.85	1
  POMGNT1	99.69	1
  PRCD	100.00	1
  PRDM13	99.99	1
  PROM1	99.97	1
  PRPF3	99.73	1
  PRPF31	99.99	1
  PRPF4	99.96	1
  PRPF6	99.98	1
  PRPF8	99.98	1
  PRPH2	99.98	1
  PRPS1	99.95	1
  RAB28	99.97	1
  RAX2	100.00	1
  RB1	99.84	1
  RBP3	99.99	1
  RBP4	99.99	1
  RCBTB1	99.99	1
  RD3	100.00	1
  RDH11	99.99	1
  RDH12	99.98	1
  RDH5	100.00	1
  REEP6	100.00	1
  RGR	99.79	1
  RGS9BP	100.00	1
  RHO	100.00	1
  RIMS1	99.85	1
  RIMS2	99.97	1
  RLBP1	99.99	1
  ROM1	100.00	1
  MAPRE2	99.98	1
  RP1L1	100.00	1
  RP2	99.58	1
  RP9	99.83	1
  RPE65	98.99	1
  RPGR	94.45	1
  RPGRIP1	99.95	1
  RPGRIP1L	96.35	1
  RS1	99.92	1
  RTN4IP1	99.98	1
  SAG	99.98	1
  SAMD11	100.00	1
  SAMD7	99.99	1
  SCAPER	99.75	1
  SCLT1	95.17	1
  SDCCAG8	100.00	1
  SEMA4A	99.81	1
  SF3B2	99.98	1
  SLC24A1	99.92	1
  SLC25A46	99.88	1
  SLC6A6	99.98	1
  SLC7A14	99.99	1
  SNRNP200	99.60	1
  SPATA7	99.80	1
  GPKOW	100.00	1
  TEAD1	99.97	1
  TIMM8A	100.00	1
  TIMP3	100.00	1
  TLR3	99.99	1
  TLR4	99.99	1
  TMEM126A	99.88	1
  TMEM216	99.98	1
  TMEM237	99.30	1
  TOPORS	99.99	1
  TREX1	100.00	1
  TRIM32	100.00	1
  TRNT1	99.97	1
  TRPM1	99.96	1
  TSPAN12	99.89	1
  TTC8	99.67	1
  TTLL5	99.95	1
  TTPA	99.88	1
  TUB	100.00	1
  TUBGCP4	99.80	1
  TUBGCP6	100.00	1
  TULP1	99.99	1
  UNC119	100.00	1
  USH1C	99.99	1
  USH1G	100.00	1
  USH2A	99.88	1
  VCAN	99.99	1
  WDPCP	99.87	1
  WDR19	99.80	1
  WFS1	99.99	1
  WHRN	99.96	1
  ZNF408	99.99	1
  ZNF423	98.94	1
  ZNF513	99.97	1

• Usher syndrome (10 genes) - UZA
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  CDH23	100.00	0
  CLRN1	100.00	0
  WHRN	100.00	0
  ADGRV1	100.00	0
  MYO7A	100.00	0
  PCDH15	100.00	0
  PDZD7	100.00	0
  USH1C	100.00	0
  USH1G	100.00	0
  USH2A	100.00	0