29 Aug 2025
Last week we marked the 10th anniversary of PanelApp, the Genomics England gene-disease knowledgebase.
Read the latest blog to see how PanelApp has evolved over the past decade, and the impact it has had on interpreting genomic data: ow.ly/a04e50WNna5
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21 Aug 2025
Today marks the 10th anniversary of Genomics England's PanelApp!
This gene-disease knowledge base allows experts to share their knowledge of rare conditions and cancer. Currently, there are over 400 publicly available gene panels in PanelApp.
Read more: genomicsengland.co.uk/panela…
ALT Black background with the Genomics England logo on thee bottom right. Yellow oblong in the centre containing the text 'Genomics England’s PanelApp, a gene-disease association database, is 10 years old today' with a green semi-circle on the left.
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9 Aug 2025
New UCSC track release: PanelApp Australia track!! #RareDisease #Genetics genome.ucsc.edu/goldenPath/n…
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8 Aug 2025
We are pleased to announce new PanelApp Australia tracks for hg38/hg19 in the PanelApp composite track. These display expert, crowdsourced diagnostic disease panels for genes, CNVs, and STRs, with data distinct from the Genomics England PanelApp. More at bit.ly/PanelAppAustralia
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5 Jun 2025
if you're interested in applying, go to the link below, and fill out our application form. All selections will be juried and are NOT first come, first served.
Applications are open until July 5th, 2025🌟
#hazbinhotel #helluvaboss #hellaverse #panelapplication #panelapp
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24 May 2025
RT @JamesFasham: Johnny Bou-Rouphael #ESHG2025
De novo variants in splicing factor SF1 lead to new NDD
15 individuals (missense/pLoF)
Highly expr in neural progenitors
Upregulation of dev. genes, many panelApp ID green
Leads to alternative splicing: 24…
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24 May 2025
Johnny Bou-Rouphael #ESHG2025
De novo variants in splicing factor SF1 lead to new NDD
15 individuals (missense/pLoF)
Highly expr in neural progenitors
Upregulation of dev. genes, many panelApp ID green
Leads to alternative splicing: 241 differentially regulated
#MorbidGene
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14 Sep 2024
In 2022, #CACNA1C was added to the NHS Genetic #Epilepsy syndromes test💥 Listed as a ‘green’ gene on PanelApp, it now holds diagnostic-grade evidence for disease association, impacting patient diagnosis. We’ll keep advocating for global recognition. 💪#RareDiseases #Advocacy
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CRE Profs Morgan, Hildebrand, Amor and Dr Scerri together with Prof Stark (#VCGS) have released a #childhoodapraxiaofspeech #PanelApp for #genes that play a role in speech apraxia. PanelApp is a tool to share, view & evaluate #GenePanels. panelapp.agha.umccr.org/pane…
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2 Jun 2024
@ZornitzaS describes their great efforts on curating new genes for PanelApp Australia rapidly for dx. Automated system for re-analysis, benchmarked to human analysis (for trios, 80%). Group trying to make it available in future. #ESHG2024
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16 Apr 2024
ماهو Gene panel sequencing
هي مجموعة من الجينات التي لها ارتباطات معروفة او مشتبه بها بمرض معين او متلازمة او ظاهرة جسدية حيث يتم استخدامها كثيرا في العيادات الوراثية للتشخيص. يوجد العديد من قواعد البيانات التي تحتوي على هذة الجينات مثل PanelApp
panelapp.genomicsengland.co.…
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9 Apr 2024
@dom_macski the diagnostic discovery team are already very aware of this
in terms of going forward, the rare disease pipeline is also well set for picking up known pathogenic variants and new rare variants in non-coding genes (once genes are added to the GMS panels in PanelApp)
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23 Feb 2024
Do phenotyping and identify candidate genes using
Panelapp
Genecc
Clingen
For better yield.
Dr shekheeb
#mdsicon2024
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11 Feb 2024
Desde SEAGen os actualizamos con esta noticia en el area de la oncogenética.
📣El gen CTNNA1 ha sido incorporado en el panel de genes asociados a cáncer gástrico difuso hereditario, en PanelApp📣
Actualmente el panel consta de dos genes curados, CDH1 y CTNNA1.
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8 Jan 2024
The @NHSgms have released an update to the National Genomic Test Directory for Rare Disease.
Find the National Genomic Test Directories (for both Rare Disease and Cancer) here: england.nhs.uk/publication/n…
Find the GMS PanelApp resource here: nhsgms-panelapp.genomicsengl…
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14 Sep 2023
📣 We have just signed off >100 new panels that relate to small and single gene tests included in the #RareDisease National Genomic Test Directory orlo.uk/GF5eU
This means PanelApp will now display all gene panel tests that are available through the @NHSgms in England
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21 Jul 2023
JC: $25M AUS project funded as Australian Genomics Mitochondrial Flagship and ran from 2017 to 2020. Clinical grade WGS and reflex clinical grade mitochondrial sequencing if needed. Used the mitochondrial PanelApp gene list and then reflexed to Mendeliome list if no MDx #ICG2023
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5 Jul 2023
So, I wrote a series of scripts to download all the information from PanelApp Australia and track the specific genes in each panel for every month between November 2019 and May 2022.
( If you're interested, you checkout the code here:
github.com/MedicalGenomicsLa… )
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5 Jul 2023
And because PanelApp records every change made to a panel as a new version in PanelApp, we thought it would be cool to look at how the genes that made up a panel had changed by comparing different versions of a panel to one another.
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