This database has been closed to new submissions.
The date of last curation was 07 June 2017 and the 'last update' on 04
August 2018 was a partial and uncurated update.
|About this overview [Show]
|This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant.|
|Patient data (#0000508)
||Atypical Gillespie Syndrome|
||, United Kingdom (Great Britain):Edinburgh|
||Gillespie syndrome is characterised by iris hypoplasia ('partial aniridia'), cerebellar ataxia and mental retardation. This patient does not have ataxia and may therefore have a variant PAX6 phenotype. It is unclear if the mild neurological anomalies are associated with the PAX6 mutation or not|
||'Atypical Gillespie syndrome': ptosis, iris anomalies, foveal hypoplasia, retinal vascular tortuosity|
|Legacy DNA ID
||Predicted abolition of intron 2 splice donor. Outcome unknown|
||Effect on protein unknown|
|5' Sequence Context
|3' Sequence Context