PanelApp Australia

Project status: Active

Research area: Genomic Medicine > Translational Genomics

A collaborative platform for evidence-based gene and panel curation supporting best practice in clinical diagnostic genomics

PanelApp Australia is a publicly available knowledge base that allows virtual gene panels related to human disorders to be created, stored and queried.

This includes critically appraising evidence for which genes have sufficient evidence for disease association.

It also includes a crowdsourcing tool that allows genes to be added or reviewed by experts, providing an opportunity for input from the clinical, laboratory and research communities.

PanelApp Australia is a publicly available knowledge base that allows virtual gene panels related to human disorders to be created, stored and queried.

This includes critically appraising evidence for which genes have sufficient evidence for disease...

PanelApp Australia is a publicly available knowledge base that allows virtual gene panels related to human disorders to be created, stored and queried.

This includes critically appraising evidence for which genes have sufficient evidence for disease association.

It also includes a crowdsourcing tool that allows genes to be added or reviewed by experts, providing an opportunity for input from the clinical, laboratory and research communities.

About PanelApp Australia

PanelApp Australia was initially deployed by Australian Genomics in 2019 in collaboration with Genomics England and is currently supported by Genomics Australia.

It contains panels used by Australian diagnostic laboratories, clinicians and researchers, including those used in Australian Genomics and Melbourne Genomics flagship projects. The diagnostic grade ‘Green’ genes in the PanelApp virtual gene panels are used in analysis and reporting by diagnostic laboratories.

Why PanelApp Australia matters

Accurate information about gene-disease associations underpins genomic analysis in rare disease. The consolidation of multiple disparate silos of activity into a single open national platform reduces the gene curation burden on individual laboratory and clinical services.

It also improves diagnostic outcomes for Australian patients through standardisation and the timely incorporation of new information.

Program governance and platform details

PanelApp Australia content is overseen by the clinical governance group: Professor Zornitza Stark,Victorian Clinical Genetics Services (VCGS), Dr Chirag Patel, Genetic Health Queensland (GHQ), Dr Bryony Thompson, Royal Melbourne Hospital (RMH), Sangavi Sivagnanasundram, RMH. The software is maintained by Dr Katrina Bell and Dr Simon Sadedin of the Bioinformatics group at MCRI.

Content is updated monthly as we recognise that up-to-date information on gene-disease relationships is one of the primary determinants of diagnostic yield in genomic testing both in terms of primary analysis and reanalysis of existing data. PanelApp Australia is a critical component of the automated reanalysis pipeline, Talos.

The platform currently contains assertions about the association of over 6,500 genes with disease and over 300 virtual gene panels. PanelApp Australia is a member of the global Gene Curation Coalition and we actively contribute towards international standards development and discordance resolution with other gene curation initiatives.

We are currently exploring the use of large-language models in gene curation as part of the Australian Alliance for Secure Genomics and AI in Rare Disease, led by Daniel MacArthur and the Centre for Population Genomics. We are also collaborating with the International Consortium for Newborn Screening (ICoNS) to provide an open platform to develop consensus approaches to gene selection in genomic newborn screening.

Research team

Professor Zornitza Stark, Clinical Geneticist at VCGS and Co-Lead of the Translational Genomics research group, MCRI
Associate Professor Sebastian Lunke, Genetics & Genomics Innovation, VCGS and Co-Lead of the Translational Genomics research group, MCRI
Dr Simon Sadedin, Head of Clinical Bioinformatics, Bioinformatics group, MCRI & VCGS Clinical Bioinformatics group
Dr Katrina Bell, Interpretation Lead, Bioinformatics group, MCRI
Leonhard Gruenschloss, Software Engineer, VCGS
Dr Lillian Downie, Clinical Geneticist, Translational Genomics research group, MCRI
Tom Conway, Bioinformatics Education Officer, Bioinformatics group, MCRI

Funding & collaborations

Thank you to our supporters and partners.

This project is funded by Genomics Australia.

We collaborate with leading institutions worldwide, including:

Publications & research outputs

Find more research output on the PanelApp Australia website.

Evolution of virtual gene panels over time and implications for genomic data re-analysis. Robertson AJ, Tran K, Patel C, Sullivan C, Stark Z, Waddell N. Genet Med Open. 2023 May 30;1(1):100820.

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution. Stark Z, Foulger RE, Williams E, Thompson BA, Patel C, Lunke S, Snow C, Leong IUS, Puzriakova A, Daugherty LC, Leigh S, Boustred C, Niblock O, Rueda-Martin A, Gerasimenko O, Savage K, Bellamy W, Lin VSK, Valls R, Gordon L, Brittain HK, Thomas ERA, Taylor Tavares AL, McEntagart M, White SM, Tan TY, Yeung A, Downie L, Macciocca I, Savva E, Lee C, Roesley A, De Fazio P, Deller J, Deans ZC, Hill SL, Caulfield MJ, North KN, Scott RH, Rendon A, Hofmann O, McDonagh EM. Am J Hum Genet. 2021 Sep 2;108(9):1551-1557.

Clinically significant changes in genes and variants associated with epilepsy over time: implications for re-analysis. Robertson AJ, Tran KA, Bennett C, Sullivan C, Stark Z, Vadlamudi L, Waddell N.Sci Rep. 2024 Apr 2;14(1):7717. doi: 10.1038/s41598-024-57976-1.PMID: 38565608

Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms. Roberts AM, DiStefano MT, Riggs ER, Josephs KS, Alkuraya FS, Amberger J, Amin M, Berg JS, Cunningham F, Eilbeck K, Firth HV, Foreman J, Hamosh A, Hay E, Leigh S, Martin CL, McDonagh EM, Perrett D, Ramos EM, Robinson PN, Rath A, Sant DW, Stark Z, Whiffin N, Rehm HL, Ware JS.Genet Med. 2024 Feb;26(2):101029. doi: 10.1016/j.gim.2023.101029. Epub 2023 Nov 17.PMID: 37982373

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. DiStefano MT, Goehringer S, Babb L, Alkuraya FS, Amberger J, Amin M, Austin-Tse C, Balzotti M, Berg JS, Birney E, Bocchini C, Bruford EA, Coffey AJ, Collins H, Cunningham F, Daugherty LC, Einhorn Y, Firth HV, Fitzpatrick DR, Foulger RE, Goldstein J, Hamosh A, Hurles MR, Leigh SE, Leong IUS, Maddirevula S, Martin CL, McDonagh EM, Olry A, Puzriakova A, Radtke K, Ramos EM, Rath A, Riggs ER, Roberts AM, Rodwell C, Snow C, Stark Z, Tahiliani J, Tweedie S, Ware JS, Weller P, Williams E, Wright CF, Yates TM, Rehm HL.Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.PMID: 35507016.

Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.reanalysis. Welland MJ, Ahlquist KD, De Fazio P, Austin-Tse C, Pais L, Wedd L, Bryen S, Rius R, Franklin M, Morrison C, Hall G, Gauthier L, Bloemendal A, Francis DI, Mallett AJ, Mallawaarachchi A, Lockhart PJ, Leventer R, Scheffer IE, Howell KB, Kassahn KS, Scott HS, McGaughran J, Christodoulou J, Thorburn DR, Thompson BA, Patel CV, Smith G, O'Donnell-Luria A, Sadedin S, Rehm HL, Lunke S, Wander J, Samocha KE, Simons C, MacArthur DG, Stark Z.medRxiv [Preprint]. 2025 May 21:2025.05.19.25327921. doi: 10.1101/2025.05.19.25327921.PMID: 40661289