13059_2016_1105_MOESM1_ESM.xlsx (47.02 kB)
Additional file 1: Table S1. of Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
dataset
posted on 2016-11-29, 05:00 authored by Stefanie Eggers, Simon Sadedin, Jocelyn van den Bergen, Gorjana Robevska, Thomas Ohnesorg, Jacqueline Hewitt, Luke Lambeth, Aurore Bouty, Ingrid Knarston, Tiong Tan, Fergus Cameron, George Werther, John Hutson, Michele O’Connell, Sonia Grover, Yves Heloury, Margaret Zacharin, Philip Bergman, Chris Kimber, Justin Brown, Nathalie Webb, Matthew Hunter, Shubha Srinivasan, Angela Titmuss, Charles Verge, David Mowat, Grahame Smith, Janine Smith, Lisa Ewans, Carolyn Shalhoub, Patricia Crock, Chris Cowell, Gary Leong, Makato Ono, Antony Lafferty, Tony Huynh, Uma Visser, Catherine Choong, Fiona McKenzie, Nicholas Pachter, Elizabeth Thompson, Jennifer Couper, Anne Baxendale, Jozef Gecz, Benjamin Wheeler, Craig Jefferies, Karen MacKenzie, Paul Hofman, Philippa Carter, Richard King, Csilla Krausz, Conny van Ravenswaaij-Arts, Leendert Looijenga, Sten Drop, Stefan Riedl, Martine Cools, Angelika Dawson, Achmad Juniarto, Vaman Khadilkar, Anuradha Khadilkar, Vijayalakshmi Bhatia, Vũ Dũng, Irum Atta, Jamal Raza, Nguyen thi Diem Chi, Tran Hao, Vincent Harley, Peter Koopman, Garry Warne, Sultana Faradz, Alicia Oshlack, Katie Ayers, Andrew SinclairDSD 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)
