In sharing our variant classification of GBA and GLA genetic changes, CENTOGENE is dedicated to full transparency and disclosure of our knowledge and understanding ̶ critical for any clinical judgement.
CENTOGENE’s comprehensive classification of variants is based on a highly qualified and standardized curation workflow. Our best-practice approach to curation workflow guarantees the best classification and the basis for clinical interpretation of newly identified variants. In addition, as part of our commitment to best practice we ensure that changes in variant classification will be proactively communicated by reclassification reports to all our past clinical cases as well.
We are confident in our decision statements concerning variant pathogenicity within CentoLSD™, which are all based on the combined experience of a dedicated team of geneticists, clinicians, and curation scientists.
Usage of CentoLSD™ is free, but subject to our terms and conditions, which can be found here.
GBA variant classificationDownload
GLA variant classificationDownload
GBA variant reclassificationDownload
GLA variant reclassificationDownload
GBA variant curationDownload
GLA variant curationDownload
Training module GBA variant classificationDownload
Training module GLA variant classificationDownload
Training module GBA variant curationDownload
Training module GLA variant curationDownload
About this group
The goal of the Variant Interpretation Working Group is to support the definition and refinement of the ACMG Variant Classification Guidelines at CENTOGENE as applied to variants in GLA and GBA genes. The group is composed of medical experts and scientists with the combined expertise to develop and maintain a consistent, robust classification pipeline.
Prof. Ari Zimran, MD
External: Shaare Zedek Medical Center, Israel
Prof. Ari Zimran was the Founder and the Director of the Gaucher Unit at Shaare Zedek Medical Center in Jerusalem, Israel from 1990 to 2018, and is currently a senior physician at the Unit. This is the world’s largest referral centre for Gaucher disease (GD), where more than 850 patients have been followed, and about 350 patients are treated with enzyme replacement therapy. Prof. Zimran has published more than 320 professional papers and reviews and has edited three books; he has been a leader in clinical trials for new treatments for GD, including Cerezyme™, Zavesca™, VPRIV™, Elelyso™ and Cerdelga™.
Florian Vogel, PhD
Dr. Vogel currently serves as the Chief Process Officer at CENTOGENE GmbH. He studied Biology at the University of Erlangen-Nürnberg and received his doctoral degree in Molecular Biology with summa cum laude. Prior to joining CENTOGENE, Florian implemented a genetic quality control division in a biotech company for vaccine vector production.
Omid Paknia, PhD
Dr. Paknia is the Director of Medical Reporting & Bioinformatics. He received his PhD in Biology from Ulm University. He later worked on population genetics projects at Hannover University.
Javier Martini, MD
Javier Martini serves as Human Geneticist at Centogene. He studied Medicine at the National University of Cuyo, Argentina. Afterwards, he completed his residency in Medical Genetics at the National Center of Medical Genetics, Buenos Aires, Argentina.
Indrani Manjunath, MS
Ms. Manjunath is the Supervisor of the Classification Team. She finished her master’s degree in Biomedical Engineering at the Martin Luther University of Halle-Wittenburg in 2018.
About this group
The goal of the Curation Working Group is to develop gene-disease associations for GLA and GBA as well as standardize variant and case curation for individuals tested for Gaucher disease or Fabry disease. Members include medical experts, scientists, and curators with the expertise to create and sustain a consistent, accurate record of test results and clinical information.
Prof. Mia Horowitz, PhD
External: Tel Aviv University, Israel
Prof. Horowitz graduated from the Weizmann Institute. Following a postdoctoral fellowship at MIT, Massachusetts, USA, she joined the Weizmann Institute. In 1985 she initiated studies aiming at understanding the molecular mechanisms underlying Gaucher disease. In 1990 she moved to Tel Aviv University where she continues her studies on the association between Gaucher disease and Parkinson disease and misfolding in lysosomal diseases, using Drosophila as an animal model.
Prof. Peter Bauer, MD
Prof. Bauer serves as CGO. After studying Medicine in Freiburg and Berlin, Peter worked as a resident in Neurology in Rostock and as a resident in Human Genetics in Tübingen. He received his board certification in Human Genetics in 2006 and served as Head of the Molecular Diagnostic Laboratory at the Institute of Medical Genetics and Applied Genomics at the University Hospital Tübingen.
Aida Bertoli-Avella, MD, PhD
Dr. Bertoli-Avella is the Head of Research Data Analysis. She graduated cum laude from the Institute of Medical Sciences, Santiago de Cuba. She then continued her training as a clinical geneticist at the National Center of Medical Genetics, Havana, Cuba. In 1997, she was awarded a UNESCO fellowship and started her PhD project at the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands. In 2006, she became Principal Investigator of the Cardio-Genetics Group in the Department of Clinical Genetics.
Krishna Kumar Kandaswamy, PhD
Dr. Kandaswamy is the Director of R & D Bioinformatics. He received his PhD in Bioinformatics from University of Lübeck, Germany. He later carried out his postdoctoral fellowship at the Max Planck Institute for Biology of Ageing and the Max Planck Institute for Biochemistry, Germany.
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