ABCA4

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Name:	ATP binding cassette subfamily A member 4
Symbol:	ABCA4
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	ARMD2 CORD3 FFM Stargardt disease
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM Reactome SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Retinal dystrophy / RETNET (gene panel)
• Stargardt disease

Related Diseases

• Cone rod dystrophy
• NON RARE IN EUROPE: Age-related macular degeneration
• Retinitis pigmentosa
• Stargardt disease

Related Gene Panels

• 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