RetNet: Notes

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Genes and Mapped Loci Causing Retinal Diseases

  • Gene symbols are based on HUGO, OMIM or published sources. Uncertain symbols are in parentheses and unknown symbols are shown as (- - -).
  • The approved HUGO symbol is in bold.
  • Genes and disease loci are listed in chromosomal order from the top (p terminus) to the bottom (q terminus) of each chromosome. If two or more localizations start at the same position, the larger (hence more uncertain) is first; identical localizations are listed in alphabetical order of the HUGO-approved symbol.
  • 2017 update: genes at identical locations are listed in order of the start of mRNA (from UCSC browser), not alphabetically.
  • 08-17-2000: RP16 withdrawn at the request of the senior author of the original publication.
  • 09-10-2000: RP15 withdrawn because a disease-causing mutation was found in RPGR.
  • 12-12-2001: STGD2 withdrawn because additional data re-mapped the family to STDG3.
  • 03-05-2002: COD1 withdrawn because a disease-causing mutation was found in RPGR.
  • 10-12-2002: map locations of cloned genes are based on the UCSC Genome Browser, June 2002 build.
  • 05-10-2004: map locations of cloned genes are based on the UCSC Genome Browser and Ensembl Genome Browser - using the most current build or release at the time of entry.
  • 05-10-2004: PDEG6 (17q21.1) removed because no human mutations reported.
  • 01-31-2005: LocusLink links updated to Entrez links because LocusLink is being discontinued.
  • 05-15-2005: genes associated with complex retinopathies are included, whether they cause Mendelian diseases or not.
  • 10-03-2005: changed titles and links throughout to "loci" or "mapped loci" from "mapped genes", and to "genes" or "identified genes" from "cloned genes", to avoid confusion.
  • 03-06-2006: USH1A (14q32) removed because most original families have MYO7A mutations and none map to 14q.
  • 04-26-2007: all disease abbreviations in "Diseases" column expanded for clarity.
  • 04-26-2007: CORD5 reassigned to PITPNM3 from GUC2D/RCD1.
  • 05-14-2007: "X-linked CSNB" was removed from the RPGR entry because the only evidence is an unpublished abstract (K Hermann, et al., Am. J. Hum. Genet. 59:A263, 1996) [personal communication, Dr. Isabella Audo].
  • 09-15-2007: RP31 was consolidated with TOPORS on 9p21.1.
  • 10-21-2009: COD4 symbol tentatively assigned to the X-linked cone-rod dystrophy locus in a Finish family (Jalkanen et al. 2003) was changed to CORDX3 based on Jalkanen et al. 2006.
  • 05-31-2011: changed "Entrez" to "Gene" to indicate NCBI Gene site and updated link.
  • 04-18-2012: RP33 was consolidated with SNRNP200 on 2q11.2.
  • 04-18-2012: STDG4 and MCDR2 were consolidated with PROM1 on 4p15.32.
  • 04-24-2012: LOC619531 was consolidated with CNNM4 on 2q11.2.
  • 04-24-2012: ACHM1 was linked to CNGB3 on 8q21.3.
  • 04-25-2012: USH2B was linked to GPR98 on 5q14.3.
  • 04-25-2012: LCA3 entry was merged with SPATA7 on 14q31.3 (consolidated previously).
  • 04-25-2012: CSNB4 entry was merged with NYX on 1Xp11.4 (consolidated previously).
  • 04-25-2012: CORDX3 entry was merged with CACNA1F on 1Xp11.23 (consolidated previously).
  • 07-11-2012: RP23 entry was merged with OFD1 on Xp22.
  • 08-03-2012: LCA9 entry was merged with NMNAT1 on 1p36.
  • 11-21-2012: VRNI entry was merged with CAPN5 on 11q13.
  • 10-25-2015: MCDR1 is the PRDM13 gene on 6q16.2.
  • 03-31-2016: "BSMD" is officially MDPT2; MDPT2 is the CTNNA1 gene on 5q31.2.
  • 03-31-2016: OR2W3 removed from disease list because it is an unlikely cause of RP.
  • 06-08-2016: GPR98 renamed ADGRV1
  • 08-24-2016: CORS2/JTBS2/MKS2 updated to TMEM216
  • 01-04-2019: RP32 is the CLCC1 gene on 1p13.3.

Summaries of Genes and Loci Causing Retinal Diseases

  • Disease categories are based on common usage, and the categories do not account for diseases which overlap (for example, retinitis pigmentosa and cone-rod dystrophy). That is, these categories are arbitrary to some extent.
  • For Table A each disease-causing gene is counted once only. This can be misleading, since different mutations in some genes can cause more than one disease. In these cases, only the first-reported disease is counted. The first-reported disease is usually the most common disease.
  • For Table B all diseases caused by different mutations in a single gene are included. Therefore a gene symbol may appear in more than one category. Table B includes more disease categories (including deafness) than Table A and the number of symbols per category is greater. For example, different mutations in ABCA4 can cause recessive Stargardt disease, recessive MD, recessive RP, recessive fundus flavimaculatus, and recessive cone-rod dystrophy, and may contribute to AMD. As a result, ABCA4 is listed once in Table A but several times in Table B and also in Table C.
  • Dates for mapped and cloned genes, shown in the summary graph, are based on the month and year of first publication in a peer-reviewed journal (abstracts are not counted). In cases where a gene was cloned and mapped before its role in retinal disease was known, the date of the first publication reporting a disease association was used for both "mapped" and "cloned" dates.
  • Table C was added on May 15, 2005 to list symbols of genes associated with complex forms of retinal disease. The Diseases table includes both 1) genes and loci causing Mendelian diseases and 2) genes only associated with complex diseases. Genes only associated with complex diseases are not included in Tables A and B nor in the graph.

Symbols of Genes and Loci Causing Retinal Diseases

  • In cases where the same symbol has been used for more than one gene or locus, only the one used first is included. This is a rare occurrence.


  • Long authorships are truncated to 255 characters with "et al." followed by the final author.

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  • American Red Cross link added in response to hurricane damage in the Fall of 2005.

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