3ff14cf26bd148e6bcf80df13e6b8c0b4c5da165 lrnassar Mon May 26 01:05:46 2025 -0700 Clarifying desc page, we no longer have missing genes except for those with version numbers <.99. Refs #35757 diff --git src/hg/makeDb/trackDb/human/panelApp.html src/hg/makeDb/trackDb/human/panelApp.html index 1a8b5b0f5e0..284a886997d 100644 --- src/hg/makeDb/trackDb/human/panelApp.html +++ src/hg/makeDb/trackDb/human/panelApp.html @@ -16,42 +16,41 @@ achieving consensus on gene panels in the <a target="_blank" href="https://www.england.nhs.uk/genomics/nhs-genomic-med-service/"> NHS Genomic Medicine Service (GMS)</a>. Later, the same platform was also deployed by <a target=_blank href="https://www.australiangenomics.org.au/tools-and-resources/panelapp-australia/">Australian Genomics</a>. </p> <p> <a href="https://panelapp.genomicsengland.co.uk/panels/entities/" target="_blank">Genes and genomic entities</a>, so short tandem repeats/STRs and copy number variants/CNVs, have been reviewed by experts to enable a community consensus to be reached on which genes and genomic entities should appear on a <b>diagnostics grade panel</b> for each disorder. A <b>rating system</b> (confidence level 0 - 3) is used to classify the level of evidence supporting association with phenotypes covered by the gene panel in question. +Only PanelApp entries with a <b>version > .99</b> are displayed in these tracks. </p> <p> There are six subtracks in total: Three different types (genes, STRs and CNVs) and these three exist for both countries, England and Australia. The three types of tracks are:</p> <ul> <li> <b>PanelApp Genes (PanelApp Genes):</b> <br> shows genes with evidence supporting a gene-disease relationship. - <p style="color:red">NOTE: Due to a bug in the PanelApp gene API, between - 5 and 20% of gene entries are missing as of 11/2/22.</p> </li> <br> <li> <b>PanelApp STRs (PanelApp STRs):</b> <br> shows short tandem repeats that can be disease-causing when a particular number of repeats is present.</li> <br> <li> <b>Only on hg38: PanelApp Regions (PanelApp CNV Regions):</b> <br> shows copy-number variants (region-loss and region-gain) with evidence supporting a gene-disease relationship.</li> </ul>