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.
  • 08-17-00: RP16 withdrawn at the request of the senior author of the original publication.
  • 09-10-00: RP15 withdrawn because a disease-causing mutation was found in RPGR.
  • 12-12-01: STGD2 withdrawn because additional data re-mapped the family to STDG3.
  • 03-05-02: COD1 withdrawn because a disease-causing mutation was found in RPGR.
  • 10-12-02: map locations of cloned genes are based on the UCSC Genome Browser, June 2002 build.
  • 05-10-04: 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.
  • 05-10-04: PDEG6 (17q21.1) removed because no human mutations reported.
  • 01-31-05: LocusLink links updated to Entrez links because LocusLink is being discontinued.
  • 05-15-05: genes associated with complex retinopathies are included, whether they cause Mendelian diseases or not.
  • 10-03-05: 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.
  • 03-06-06: USH1A (14q32) removed because most original families have MYO7A mutations and none map to 14q.
  • 04-26-07: all disease abbreviations in "Diseases" column expanded for clarity.
  • 04-26-07: CORD5 reassigned to PITPNM3 from GUC2D/RCD1.
  • 05-14-07: "X-linked CSNB" was removed from the RPGR entry because the only evidence is an unpublished abstract (K Hermann, et al., Am.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].
  • 09-15-07: RP31 was consolidated with TOPORS on 9p21.1.


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.


References


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


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  • The RetNet logos and help symbol were designed by Dr. Belinda Rossiter.
  • American Red Cross link added in response to hurricane damage in the Fall of 2005.

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©1996-2008, Stephen P. Daiger, PhD and The University of Texas Health Science Center, Houston, Texas