ebccdd48004d96aa3d5dce2d4bd4f493e86b0e4f lrnassar Fri Aug 29 19:06:39 2025 -0700 Updating panelApp Aus to include all gene panels but display only the two curated ones by default, refs #36219 diff --git src/hg/makeDb/trackDb/human/panelApp.ra src/hg/makeDb/trackDb/human/panelApp.ra index 87c14234908..982c9e11f9e 100644 --- src/hg/makeDb/trackDb/human/panelApp.ra +++ src/hg/makeDb/trackDb/human/panelApp.ra @@ -70,30 +70,34 @@ shortLabel PanelApp Australia Genes longLabel PanelApp Australia Genes Panels type bigBed 9 + visibility pack bigDataUrl /gbdb/$D/panelApp/genesAus.bb url https://panelapp-aus.org/panels/$/gene/$/ urlLabel Link to PanelApp Australia urls omimGene="https://www.omim.org/entry/$$" ensemblGenes="https://ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=$$" hgncID="https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:$$" panelID="https://panelapp-aus.org/panels/$$/" geneSymbol="https://panelapp-aus.org/panels/entities/$$" mouseOver Gene: $entityName
Panel: $panelName
MOI: $modeOfInheritance
Phenotypes: $phenotypes
Confidence level: $confidenceLevel labelFields geneSymbol skipEmptyFields on skipFields chrom,chromStart,blockStarts,blockSizes,entityName,tags,status,mouseOverField filterValues.confidenceLevel 3,2,1,0 filter.panelVersion 0 filterLabel.panelVersion Minimum panel version to display + filterValues.panelName Mendeliome,Incidentalome,Intellectual disability syndromic and non-syndromic,Fetal anomalies,Genomic newborn screening: BabyScreen+ + filterValuesDefault.panelName Mendeliome,Incidentalome + filterLabel.panelName Panel Name (only 5 common shown, use all to display all panels) + filterValues.modeOfInheritance BIALLELIC,, autosomal or pseudoautosomal|BIALLELIC (autosomal/pseudoautosomal),MONOALLELIC,, autosomal or pseudoautosomal,, imprinted status unknown|MONOALLELIC (autosomal/pseudoautosomal) imprinted status unknown,MONOALLELIC,, autosomal or pseudoautosomal,, maternally imprinted (paternal allele expressed)|MONOALLELIC (autosomal/pseudoautosomal) maternally imprinted (paternal allele expressed),MONOALLELIC,, autosomal or pseudoautosomal,, paternally imprinted (maternal allele expressed)|MONOALLELIC (autosomal/pseudoautosomal) paternally imprinted (maternal allele expressed),MONOALLELIC,, autosomal or pseudoautosomal,, NOT imprinted|MONOALLELIC (autosomal/pseudoautosomal) NOT imprinted,BOTH monoallelic and biallelic,, autosomal or pseudoautosomal|BOTH monoallelic/biallelic (autosomal/pseudoautosomal),BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form),, autosomal or pseudoautosomal|BOTH monoallelic/biallelic (but BIALLELIC mutations more SEVERE)(autosomal/pseudoautosomal),X-LINKED: hemizygous mutation in males,, biallelic mutations in females|X-LINKED: hemizygous mutation in males,, biallelic mutations in females,X-LINKED: hemizygous mutation in males,, monoallelic mutations in females may cause disease (may be less severe,, later onset than males)|X-LINKED: hemizygous mutation in males,, monoallelic mutations in females may cause disease,MITOCHONDRIAL|MITOCHONDRIAL,Other|Other,Unknown|Unknown priority 4 track panelAppAusCNVs parent panelApp on shortLabel PanelApp Australia CNVs longLabel PanelApp Australia CNV Regions type bigBed 9 + visibility pack bigDataUrl /gbdb/$D/panelApp/cnvAus.bb itemRgb on urls omimGene="https://www.omim.org/entry/$$" panelID="https://panelapp-aus.org/panels/$$/" entityName="https://panelapp-aus.org/panels/entities/$$" labelFields entityName skipEmptyFields on skipFields chrom,chromStart,blockStarts,blockSizes mouseOver Gene: $entityName
Panel: $panelName
MOI: $modeOfInheritance
Phenotypes: $phenotypes
Confidence level: $confidenceLevel