Additional file 1: Table S1. of Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

  • Stefanie Eggers (Contributor)
  • Simon Sadedin (Contributor)
  • Aurore Bouty (Contributor)
  • Stefan Riedl (Contributor)
  • Nathalie Webb (Contributor)
  • Leendert Looijenga (Contributor)
  • Sonia R Grover (Contributor)
  • Vijayalakshmi Bhatia (Contributor)
  • Tran Kiem Hao (Contributor)
  • Peter Koopman (Contributor)
  • Carolyn Shalhoub (Contributor)
  • Nguyen Thi Diem Chi (Contributor)
  • Luke Lambeth (Contributor)
  • Elizabeth M. Thompson (Contributor)
  • Sultana Faradz (Contributor)
  • John Hutson (Contributor)
  • Philippa Carter (Contributor)
  • Vaman Khadilkar (Contributor)
  • Garry Warne (Contributor)
  • Chris Kimber (Contributor)
  • Shubha Srinivasan (Contributor)
  • Vũ Chí Dũng (Contributor)
  • Vincent Harley (Contributor)
  • Martine Cools (Contributor)
  • Paul Hofman (Contributor)
  • Angela Titmuss (Contributor)
  • Lisa Ewans (Contributor)
  • Tiong Yang Tan (Contributor)
  • Nicholas Pachter (Contributor)
  • Csilla Krausz (Contributor)
  • Michele O'Connell (Contributor)
  • Sten Drop (Contributor)
  • Patricia Crock (Contributor)
  • Justin Brown (Contributor)
  • Ingrid M Knarston (Contributor)
  • Margaret Zacharin (Contributor)
  • Gorjana Robevska (Contributor)
  • Uma Visser (Contributor)
  • Yves Heloury (Contributor)
  • Catherine S. Choong (Contributor)
  • Charles F Verge (Contributor)
  • Richard I King (Contributor)
  • Irum Atta (Contributor)
  • Anuradha Khadilkar (Contributor)
  • Thomas Ohnesorg (Contributor)
  • Angelika Dawson (Contributor)
  • Janine Smith (Contributor)
  • Alicia Oshlack (Contributor)
  • Jennifer Couper (Contributor)
  • Chris Cowell (Contributor)
  • David Mowat (Contributor)
  • Jozef Gecz (Contributor)
  • Grahame Smith (Contributor)
  • Jamal Raza (Contributor)
  • Conny van Ravenswaaij-Arts (Contributor)
  • Philip Bergman (Contributor)
  • Tony Huynh (Contributor)
  • Matthew F Hunter (Contributor)
  • Jacqueline Hewitt (Contributor)
  • Fiona McKenzie (Contributor)
  • Jocelyn A van den Bergen (Contributor)
  • Fergus Cameron (Contributor)
  • GaryM. Leong (Contributor)
  • Achmad Zulfa Juniarto (Contributor)
  • George Werther (Contributor)
  • Benjamin J Wheeler (Contributor)
  • Antony R Lafferty (Contributor)
  • Karen MacKenzie (Contributor)
  • Makato Ono (Contributor)
  • Craig Jefferies (Contributor)
  • Anne Baxendale (Contributor)
  • Katie L Ayers (Creator)
  • Andrew H Sinclair (Creator)



DSD gene variants. Each variant found in a diagnostic gene (after the filtering and curation process) is shown. In some cases where the gene is inherited in an autosomal recessive manner, two variants are grouped together. Inheritance has been indicated where familial samples were available: negative indicates negative for variant and N/A sample not available. De novo events have only been noted where both parental samples were available and found to be negative for the change. Previously reported refers to a variant being described in either ClinVar, HGMD, or a publication in a peer-reviewed journal via a PubMed search. Variants were classified consistent with previous MPS publications of DSD cohorts [8, 10] which were based on ACMG guidelines [15]. VUS were called for three reasons: 1 = fits phenotype but predicted to be benign; 2 = damaging but doesn’t fit phenotype; or 3 = variant in the AR repetitive region. Patients marked with an asterisk were identified to have two or more diagnostic gene variants. Null variants (frameshifts, splice sites mutations, and premature stop codons) are shown in bold. Patients have been classified based on clinical notes provided, according to the recommended classification of DSD in the Chicago consensus report. Classifications: CGD complete gonadal dysgenesis, DASA disorders of androgen synthesis or action, DSD DSD of “unknown” origin; hypospadias, LCH Leydig cell hypoplasia, OT ovotesticular DSD, PGD partial gonadal dysgenesis, PMDS persistent Müllerian duct syndrome; syndromic, T testicular DSD. Related affected individuals are indicated. File is in Excel spreadsheet format. (XLSX 47 kb)
Datum van beschikbaarheid14-dec-2016
UitgeverUniversity of Groningen
  • Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

    Eggers, S., Sadedin, S., van den Bergen, J. A., Robevska, G., Ohnesorg, T., Hewitt, J., Lambeth, L., Bouty, A., Knarston, I. M., Tiong Yang Tan, Cameron, F., Werther, G., Hutson, J., O'Connell, M., Grover, S. R., Heloury, Y., Zacharin, M., Bergman, P., Kimber, C., Brown, J. & 53 anderen, Webb, N., Hunter, M. F., Srinivasan, S., Titmuss, A., Verge, C. F., Mowat, D., Smith, G., Smith, J., Ewans, L., Shalhoub, C., Crock, P., Cowell, C., Leong, G. M., Ono, M., Lafferty, A. R., Huynh, T., Visser, U., Choong, C. S., McKenzie, F., Pachter, N., Thompson, E. M., Couper, J., Baxendale, A., Gecz, J., Wheeler, B. J., Jefferies, C., MacKenzie, K., Hofman, P., Carter, P., King, R. I., Krausz, C., van Ravenswaaij-Arts, C. M. A., Looijenga, L., Drop, S., Riedl, S., Cools, M., Dawson, A., Juniarto, A. Z., Khadilkar, V., Khadilkar, A., Bhatia, V., Vu Chi Dung, N. V., Atta, I., Raza, J., Nguyen Thi Diem Chi, Tran Kiem Hao, Harley, V., Koopman, P., Warne, G., Faradz, S., Oshlack, A., Ayers, K. L. & Sinclair, A. H., 29-nov-2016, In: Genome Biology. 17, 1, 21 blz., 243.

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