| Name | Moderators |
|---|---|
| ABAT |
Phillip Pearl (Boston, United States), Michael Gibson (Spokane, United States), Melissa DiBacco (Boston, United States) |
| ABCA2 |
Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| ACER3 | Cungui Mao (New York, United States) |
| ACTL6A |
Ronit Marom (Houston, United States), Mari Tokita (San Diego, United States) |
| ACTL6B | Philippe Campeau (Monteral, Canada) |
| ADAMTSL2 | Merlin Butler (Kansas City, United States) |
| ADAMTSL2 autosomal dominant | Merlin Butler (Kansas City, United States) |
| ADAMTSL2 autosomal recessive | Merlin Butler (Kansas City, United States) |
| ADAT3 |
Shital Tester (Ahmedabad, India), Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| ADGRB3 |
Corrado Romano (Troina, Italy), Marco Fichera (Catania, Italy) |
| ADGRG6 | Gina Ravenscroft (Perth, Australia) |
| ADNP |
Frank Kooy (Antwerp, Belgium), Anke Van Dijck (Antwerp, Belgium), Evan Eichler (Seattle, United States), Bert de Vries (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands) |
| AHDC1 |
Shital Tester (Ahmedabad, India), Margje Sinnema (Maastricht, Netherlands), Sander Stegmann (Maastricht, Netherlands), Vasudevan Pradeep (Leicester, United Kingdom) |
| AKT3 |
Bill Dobyns (Seattle, United States), Ghayda Mirzaa (Seattle, United States) |
| ALKBH8 |
Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| ALPK3 |
Johanna C. Herkert (Groningen, Netherlands), Judith Verhagen (Rotterdam, Netherlands) |
| ALX1 |
Nurten Akarsu (Ankara, Turkey), Arda Cetinkaya (Istanbul, Turkey) |
| ANKH |
Ernst Reichenberg (Farmington, United States), I-ping Chen (Farmington, United States), Charlene Williams (Camden, United States), Thomas Carpenter (New Haven, United States) |
| ANKRD11 |
Charlotte Ockeloen (Nijmegen, Netherlands), Rolph Pfundt (Nijmegen, Netherlands), Karen Low (Bristol, United Kingdom), Raghu Prajapati (AHMEDABAD, India), Gholson Lyon (New York, United States) |
| ANKRD17 |
Maya Chopra (Boston, United States), Chris Gordon (Paris, France) |
| AP1B1 |
Mohnish Suri (Nottingham, United Kingdom), Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| AP4B1 | Darius Ebrahimi-Fakhari (Boston, United States) |
| AP4E1 | Darius Ebrahimi-Fakhari (Boston, United States) |
| AP4M1 | Darius Ebrahimi-Fakhari (Boston, United States) |
| AP4S1 | Darius Ebrahimi-Fakhari (Boston, United States) |
| APOPT1 |
Erika Fernandez-Vizarra (Cambridge, United Kingdom), Massimo Zeviani (Cambridge, United Kingdom) |
| ARCN1 |
Kosuke Izumi (Philadelphia, United States), Alyssa Ritter (Philadelphia, United States) |
| ARID1A |
Gijs Santen (Leiden, Netherlands), Eline van der Sluijs (Leiden, Netherlands) |
| ARID1B |
Gijs Santen (Leiden, Netherlands), Eline van der Sluijs (Leiden, Netherlands), Bert de Vries (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands) |
| ARID2 |
Nuria Brämswig (Essen, Germany), Gijs Santen (Leiden, Netherlands), Eline van der Sluijs (Leiden, Netherlands) |
| ARL14EP |
Ranad Shaheen (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| ARL3 |
John A Sayer (Newcastle Upon Tyne, United Kingdom), Laura J Powell (Newcastle Upon Tyne, United Kingdom) |
| ARMC5 |
Rachel Wurth (Maryland, United States), Fady Hannah-Shmouni (Maryland, United States), Fabio R. Faucz (Maryland, United States), Constantine A. Stratakis (Maryland, United States) |
| ARX | Bill Dobyns (Seattle, United States) |
| ASNA1 |
Judith Verhagen (Rotterdam, Netherlands), Ingrid M.B.H. van de Laar (Rotterdam, Netherlands) |
| ASPH |
Nisha Patel (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| ASXL2 |
Loren Pena (Cincinnati, United States), Vandana Shashi (Durham, United States), Kelly Schoch (Durham, United States) |
| ASXL3 |
Stephanie Bielas (Ann Arbor, United States), Donna Martin (Ann Arbor, United States), Maria Irene Valenzuela Palafoll (Barcelona, Spain) |
| ATN1 |
Emma Palmer (Sydney, Australia), Stefan Arold (Thuwal, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| ATP1A2 |
M.J.V. Hoffer (Leiden, Netherlands), A.M.J.M. van den Maagdenberg (Leiden, Netherlands), A.V.E. Harder (Leiden, Netherlands) |
| ATP2B3 | Ginevra Zanni (Rome, Italy) |
| ATP6V1B2 |
Yongyi Yuan (Beijing, China), Pu Dai (Beijing, China), Xi Lin (Atlanta, United States) |
| ATXN2L |
Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| AUTS2 |
Gea Beunders (Amsterdam, Netherlands), Erik Sistermans (Amsterdam, Netherlands) |
| BCAP31 |
Laurent Villard (Marseille, France), Sandra Whalen (Paris, France) |
| BCL11A |
Cristina Dias (London, United Kingdom), Angela Peron (Salt Lake City, United States), David Viskochil (Salt Lake City, United States) |
| BGN |
Josephina Meester (Antwerp, Belgium), Bart Loeys (Antwerp, Belgium) |
| BMP2 |
Tiong Yang Tan (Melbourne, Australia), Claudia Gonzaga-Jauregui (Tarrytown, United States) |
| BPTF |
Pawel Stankiewicz (Houston, United States), Yaping Yang (Houston, United States) |
| BRAT1 |
Siddharth Srivastava (Boston, United States), Sakkubai Naidu (Baltimore, United States) |
| BRWD3 | Michael Field (Waratah, Australia) |
| C12orf57 |
Raghu Prajapati (AHMEDABAD, India), Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| CACNA1A |
M.J.V. Hoffer (Leiden, Netherlands), A.M.J.M. van den Maagdenberg (Leiden, Netherlands), A.V.E. Harder (Leiden, Netherlands) |
| CAMK2A |
Sébastien Küry (Nantes, France), Geeske van Woerden (Rotterdam, Netherlands), Sandra Mercier (Nantes, France) |
| CAMK2B |
Sébastien Küry (Nantes, France), Geeske van Woerden (Rotterdam, Netherlands), Sandra Mercier (Nantes, France) |
| CCDC186 |
Ingo Borggräfe (Munich, Germany), Matias Wagner (Munich, Germany), Melanie Brugger (Munich, Germany) |
| CCDC88A |
Geoffey Woods (Cambridge, United Kingdom), Angela F Brady (Harrow, United Kingdom) |
| CCND2 |
Bill Dobyns (Seattle, United States), Ghayda Mirzaa (Seattle, United States) |
| CD55 |
Alina Kurolap (Haifa, Israel), Hagit Baris Feldman (Haifa, Israel) |
| CDH1 |
Jamal Ghoumid (Lille, France), Sylvie Manouvrier (Lille, France) |
| CDK10 |
Juliette Piard (Besançon, France), Lionel van Maldergem (Besançon, France) |
| CDK13 | Lex Dingemans (Nijmegen, Netherlands) |
| CEP120 |
Enza Maria Valente (Pavia, Italy), Susanne Roosing (Nijmegen, Netherlands), Valentina Serpieri (Pavia, Italy) |
| CEP78 |
Pietro Farinelli (Copenhagen, Denmark), Konstantinos Nikopoulos (Lausanne, Switzerland), Carlo Rivolta (Leicester, United Kingdom) |
| CHD2 | Evan Eichler (Seattle, United States) |
| CHD3 |
Erik van Heesbeen (Montreal, Canada), Philippe Campeau (Monteral, Canada) |
| CHD4 | Karin Weiss (Haifa, Israel) |
| CHD8 |
Raphael Bernier (Seattle, United States), Evan Eichler (Seattle, United States), Kim Truijen, Bert de Vries (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands) |
| CHR1Q21 |
Heather Mefford (Seattle, United States), Evan Eichler (Seattle, United States) |
| CHRNG |
Andres Nascimento (Barcelona, Spain), Daniel Natera de Benito (Barcelona, Spain) |
| CHST3 |
Shubha R Phadke (Lucknow, India), Somya Srivastava (Lucknow, India) |
| CIC |
Huda Zoghbi (Houston, United States), Mark Durham (Houston, United States) |
| CLCN4 |
Vera Kalscheuer (Berlin, Germany), Emma Palmer (Sydney, Australia) |
| CLN5 |
Stephanie Efthymiou (London, United Kingdom), Henry Houlden (London, United Kingdom) |
| CLP1 |
Ender Karaca (Birmingham, United States), James R. Lupski (Houston, United States) |
| CLPP |
Leigh A.M. Demain (Manchester, United Kingdom), William G. Newman (Manchester, United Kingdom) |
| CLTC | David Koolen (Nijmegen, Netherlands) |
| CLTCL1 | Geoffey Woods (Cambridge, United Kingdom) |
| CNKSR2 |
Jill Clayton-Smith (Manchester, United Kingdom), Rebecca Sayer (Manchester, United Kingdom) |
| CNNM2 |
J.H.F. de Baaij (Nijmegen, Netherlands), J.G.J. Hoenderop (Nijmegen, Netherlands) |
| COG4 | Carlos R. Ferreira (Washington, DC, United States) |
| COL27A1 | Claudia Gonzaga-Jauregui (Tarrytown, United States) |
| COQ2 |
Catarina M. Quinzii (New York, United States), Eva Trevisson (Padova, Italy) |
| COX7B |
Brunella Franco (Naples, Italy), Alessia Indrieri (Naples, Italy) |
| CRADD |
Nataliya Di Donato (Dresden, Germany), Bill Dobyns (Seattle, United States) |
| CSNK1G1 |
Elizabeth Bhoj (Philadelphia, United States), Nina B. Gold (Boston, United States) |
| CTNNB1 |
Stephanie Ho (Hong Kong, China), Brian Hon Yin Chung (Hong Kong, Hong Kong), Ho-ming Luk (Hong Kong, China), Ivan Fai-man Lo (Hong Kong, China), Mandy Tsang (Hong Kong, Hong Kong) |
| CTNND1 |
Jamal Ghoumid (Lille, France), Sylvie Manouvrier (Lille, France) |
| CWC27 |
Rui Chen (Houston, United States), Ruifang Sui (Peking, China) |
| DCAF17 |
Raghu Prajapati (AHMEDABAD, India), Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| DCC |
Ashley Pamela Lesle Marsh (Melbourne, Australia), Saumya Shekhar Jamuar (Singapore) |
| DDX3X | Lex Dingemans (Nijmegen, Netherlands) |
| DDX59 |
Hanan E Shamseldin (Riyadh, Saudi Arabia), Raghu Prajapati (AHMEDABAD, India), Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| DEAF1 |
Anneke Vulto-van Silfhout (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Lisenka Vissers (Nijmegen, Netherlands), Maria Nabais Sá (Nijmegen, Netherlands), Philip Jensik (Carbondale, United States) |
| DEAF1 autosomal dominant |
Anneke Vulto-van Silfhout (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Lisenka Vissers (Nijmegen, Netherlands), Maria Nabais Sá (Nijmegen, Netherlands), Philip Jensik (Carbondale, United States) |
| DEAF1 autosomal recessive |
Anneke Vulto-van Silfhout (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Lisenka Vissers (Nijmegen, Netherlands), Maria Nabais Sá (Nijmegen, Netherlands), Philip Jensik (Carbondale, United States) |
| DEGS1 |
Aurora Pujol (Barcelona, Spain), Agusti Rodriguez-Palmero (Badalona, Spain) |
| Deletion 22q11 | Lex Dingemans (Nijmegen, Netherlands) |
| DHX30 | Davor Lessel (Hamburg, Germany) |
| DNMT3A | Kate Tatton-Brown (London, United Kingdom) |
| DNMT3A gain of function | Lex Dingemans (Nijmegen, Netherlands) |
| DOCK6 |
Ranad Shaheen (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| DOCK7 | Dilşad Türkdoğan (Istanbul, Turkey) |
| DYRK1A |
Raghu Prajapati (AHMEDABAD, India), Bregje Bon (Nijmegen, Netherlands), Evan Eichler (Seattle, United States) |
| EBF3 |
Hsiao-Tuan Chao (Houston, United States), Michael F. Wangler (Houston, United States) |
| EHMT1 | Lex Dingemans (Nijmegen, Netherlands) |
| EIF2AK1 |
Hsiao-Tuan Chao (Houston, United States), Joshi Stephen (Maryland, United States), Vanesa Lerma (Houston, United States) |
| EIF2AK2 |
Hsiao-Tuan Chao (Houston, United States), Joshi Stephen (Maryland, United States), Vanesa Lerma (Houston, United States) |
| ELMO2 |
Nurten Akarsu (Ankara, Turkey), Arda Cetinkaya (Istanbul, Turkey) |
| ELOVL4 |
Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| ELOVL5 |
Alfredo Brusco (Torino, Italy), Barbara Borroni (Brescia, Italy) |
| EML1 |
Maarten Lequin (Utrecht, Netherlands), Renske Oegema (Utrecht, Netherlands) |
| ENPP1 | Carlos R. Ferreira (Washington, DC, United States) |
| EOGT |
Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| ERAL1 |
Leigh A.M. Demain (Manchester, United Kingdom), William G. Newman (Manchester, United Kingdom) |
| EZH2 | Kate Tatton-Brown (London, United Kingdom) |
| FAM111B |
Sébastien Küry (Nantes, France), Sandra Mercier (Nantes, France) |
| FAM149B1 |
Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| FBXL4 |
Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| FBXO11 |
Sandra Jansen (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands), Lisenka Vissers (Nijmegen, Netherlands) |
| FOXP1 |
Bert Callewaert (Ghent, Belgium), Saskia Koene (Leiden, Netherlands) |
| FOXP2 |
Angela Morgan (Melbourne, Australia), Simon Fisher (Nijmegen, Netherlands) |
| FOXP3 |
Queenie K-G Tan (Durham, United States), Raymond J Louie (Greenwood, United States) |
| GABBR2 |
Yuri Zarate (Little Rock (AR), United States), Debopam Samanta (Little Rock, United States) |
| GATA3 |
Sajel Lala Kana (Miami, United States), Amin J. Barakat (Washington, DC, United States) |
| GLI2 |
Christèle Dubourg (Rennes, France), Sylvie Odent (Rennes, France), Alinoë Lavillaureix (Rennes, France) |
| GMNN | Ernie Bongers (Nijmegen, Netherlands) |
| GMPPA | Christian A. Hübner (Jena, Germany) |
| GNB1 |
Kwame Anyane-Yeboa (New York, United States), Anya Revah-Politi (New York, United States) |
| GPT2 |
Eric M. Morrow (Providence, United States), Brian C. Kavanaugh (Providence, United States) |
| GRIN1 |
Johannes Lemke (Leipzig, Germany), Ilona Krey (Leipzig, Germany) |
| GRIN2A |
Johannes Lemke (Leipzig, Germany), Ilona Krey (Leipzig, Germany) |
| GRIN2B |
Johannes Lemke (Leipzig, Germany), Ilona Krey (Leipzig, Germany) |
| GRIN2D |
Johannes Lemke (Leipzig, Germany), Ilona Krey (Leipzig, Germany) |
| GZF1 |
Nisha Patel (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| HARS2 |
Leigh A.M. Demain (Manchester, United Kingdom), William G. Newman (Manchester, United Kingdom) |
| HCN1 |
Christel Depienne (Essen, Germany), Carla Marini (Florence, Italy) |
| HERC1 |
Ashwin Dalal (Hyderabad, India), Shagun Aggarwal (Hyderabad, India), Aneek Das Bhowmik (Hyderabad, India) |
| HEY2 |
Eva van Walree (Amsterdam, Netherlands), Inge Mathijssen (Amsterdam, Netherlands) |
| HHAT |
Katta Mohan Girisha (Udupi, India), Shruti Pande (Udupi, India) |
| HIST1H1E | Kate Tatton-Brown (London, United Kingdom) |
| HIVEP2 |
Siddharth Srivastava (Boston, United States), Sakkubai Naidu (Baltimore, United States) |
| HNF1B |
J.H.F. de Baaij (Nijmegen, Netherlands), J.G.J. Hoenderop (Nijmegen, Netherlands) |
| HNRNPK | Petra Zwijnenburg (Amsterdam, Netherlands) |
| HPSE2 | William G. Newman (Manchester, United Kingdom) |
| IKBKG/NEMO |
Matilde Valeria Ursini (Naples, Italy), Francesca Fusco (Naples, Italy) |
| IL1RAPL1 | Carlo Sala (Milano, Italy) |
| INTS1 | Anne Slavotinek (San Francisco, United States) |
| IQSEC2 |
Tracy Dudding-Byth (Waratah, Australia), Emma Palmer (Sydney, Australia), Cheryl Shoubridge (Adelaide, Australia), Jackie Boyle (Waratah, Australia), Jessica Radley (London, United Kingdom) |
| IRF2BPL |
Loren Pena (Cincinnati, United States), Vandana Shashi (Durham, United States), Becky Spillmann (Durham, United States), Paul C. Marcogliese (Houston, United States), Hugo Bellen (Houston, United States) |
| ISCA2 |
Namik Kaya (Riyadh, Saudi Arabia), Zuhair AlHassnan (Riyadh, Saudi Arabia), Mazhor S. Aldosary (Riyadh, Saudi Arabia), Dilek Colak (Riyadh, Saudi Arabia), Rawan Almass (Riyadh, Saudi Arabia), Maysoon Alsagob (Riyadh, Saudi Arabia) |
| KANSL1 |
David Koolen (Nijmegen, Netherlands), Evan Eichler (Seattle, United States), Bert de Vries (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands) |
| KAT6B |
Ernie Bongers (Nijmegen, Netherlands), Jill Clayton-Smith (Manchester, United Kingdom) |
| KCNA1 |
Aurora Pujol (Barcelona, Spain), Agusti Rodriguez-Palmero (Badalona, Spain) |
| KCNA4 |
Namik Kaya (Riyadh, Saudi Arabia), Mohamed Al-Owain (Riyadh, Saudi Arabia), Dilek Colak (Riyadh, Saudi Arabia), Albandary AlBakheet (Riyadh, Saudi Arabia), Rawan Almass (Riyadh, Saudi Arabia), Maysoon Alsagob (Riyadh, Saudi Arabia) |
| KCNH1 | Michael Gabbett (Brisbane, Australia) |
| KCNK9 |
Matthew Deardorff (Los Angeles, United States), John M. Graham Jr. (Los Angeles, United States), Margot A. Cousin (Rochester, United States), Emma L. Veale (Chatham Maritime, United Kingdom) |
| KCNQ2 |
Maurizio Taglialatela (Naples, Italy), Sarah Weckhuysen (Antwerp, Belgium) |
| KCNQ3 |
Maurizio Taglialatela (Naples, Italy), Sarah Weckhuysen (Antwerp, Belgium) |
| KCNT2 |
Emma Palmer (Sydney, Australia), Arin Bhattacharjee (Buffalo, United States), Rebecca Macintosh (Sydney, Australia) |
| KDELR2 |
Dimitra Micha (Amsterdam, Netherlands), Alessandra Maugeri (Amsterdam, Netherlands), Mariet Elting (Amsterdam, Netherlands), Marelise Eekhoff (Amsterdam, Netherlands) |
| KDM3B | Lex Dingemans (Nijmegen, Netherlands) |
| KIAA1109 |
Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| KLHL24 | Cristina Has (Freiburg, Germany) |
| KMT2B |
Manju Kurian (London, United Kingdom), Kathleen Gorman (London, United Kingdom) |
| LAMA5 |
Simone Sampaolo (Naples, Italy), Chiara Terracciano (Naples, Italy), Teresa Esposito (Naples, Italy), Filomena Napolitano (Naples, Italy), Marina Melone (Naples, Italy), Giovanni Iolascon (Naples, Italy) |
| LAMB1 Autosomal Dominant |
Hélène Morel (Paris, France), Dominique Herve (Paris, France) |
| LARP7 |
Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| LARS2 |
Leigh A.M. Demain (Manchester, United Kingdom), William G. Newman (Manchester, United Kingdom) |
| LIS1 |
Renzo Guerrini (Florence, Italy), Elena Parrini (Florence, Italy) |
| LMAN2L |
Rafiullah Rafiullah (Riyadh, Saudi Arabia), Hazrat Ali Khan (Quetta, Pakistan) |
| LMNB1 |
Hilde Van Esch (Leuven, Belgium), Rich Steet (Greenwood, United States) |
| LRIG2 | William G. Newman (Manchester, United Kingdom) |
| LRP2 |
Barbara R. Pober (Boston, United States), Mauro Longoni (Boston, United States) |
| LRPAP1 |
Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| LSS |
Thomas Besnard (Nantes, France), Bertrand Isidor (Nantes, France) |
| MAGEL2 |
Michael Fountain (Houston, United States), Michael Fountain (Houston, United States), Christian Schaaf (Houston, United States), Megan Rech (Houston, United States) |
| MECP2 duplication | Hilde Van Esch (Leuven, Belgium) |
| MED12 |
Michael Lyons (North Charleston, United States), Mike Friez (Greenwood, United States) |
| MED13L |
Anita Rauch (Schlieren-Zurich, Switzerland), Reza Asadollahi (Schlieren-Zurich, Switzerland) |
| MEF2C |
Sofia Douzgou (Manchester, United Kingdom), Florence Riccardi (Marseille, France) |
| MEIS2 |
Andrea Gangfuß (Essen, Germany), Dorothea Schulte (Frankfurt, Germany), Maria J. Guillen Sacoto (Gaithersburg, United States) |
| MEOX1 |
Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| MFF |
Hanan E Shamseldin (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| MMUT | Jean-François Benoist (Paris, France) |
| MN1 |
Chris Gordon (Paris, France), Christopher Mak (Hong Kong, Hong Kong), Brian Hon Yin Chung (Hong Kong, Hong Kong) |
| MORC2 | Maria J. Guillen Sacoto (Gaithersburg, United States) |
| MPDZ |
Ranad Shaheen (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| MSL3 |
Theresa Brunet (Munich, Germany), Matias Wagner (Munich, Germany) |
| MTOR |
Bill Dobyns (Seattle, United States), Ghayda Mirzaa (Seattle, United States) |
| MYH3 | Anna Hakonen (Helsinki, Finland) |
| MYH3 autosomal dominant | Anna Hakonen (Helsinki, Finland) |
| MYH3 autosomal recessive | Anna Hakonen (Helsinki, Finland) |
| MYO18B |
Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| MYT1L |
Björn Menten (Gent, Belgium), Alisdair McNeill (Sheffield, United Kingdom), Raghu Prajapati (AHMEDABAD, India), David Koolen (Nijmegen, Netherlands) |
| NAA10 | Gholson Lyon (New York, United States) |
| NAA15 | Gholson Lyon (New York, United States) |
| NACC1 |
Vandana Shashi (Durham, United States), Kelly Schoch (Durham, United States), Michael Wangler (Houston, United States) |
| NCOR2 | Philippe Campeau (Monteral, Canada) |
| NDUFA6 |
Charlotte Alston (Newcastle upon Tyne, United Kingdom), Robert McFarland (Newcastle upon Tyne, United Kingdom), Robert Taylor (Newcastle upon Tyne, United Kingdom) |
| NDUFAF8 |
Charlotte Alston (Newcastle upon Tyne, United Kingdom), David J. Pagliarini (St Louis, United States), Robert McFarland (Newcastle upon Tyne, United Kingdom), Robert Taylor (Newcastle upon Tyne, United Kingdom) |
| NDUFS6 |
Cécile Rouzier (Nice, France), Annabelle Chaussenot (Nice, France) |
| NECAP1 |
Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| NGF | Geoffey Woods (Cambridge, United Kingdom) |
| NKAP |
Kosuke Izumi (Philadelphia, United States), Alyssa Ritter (Philadelphia, United States) |
| NKX6-2 |
Viorica Chelban (London, United Kingdom), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| NR2F1 |
Danielle Bosch (Nijmegen, Netherlands), Christian Schaaf (Houston, United States) |
| NR5A1 |
Martine Cools (Ghent, Belgium), Elfride De Baere (Ghent, Belgium), Dorien Baetens (Ghent, Belgium) |
| NRROS |
John Christodoulou (Melbourne, Australia), Sue White (Melbourne, Australia) |
| NSD1 |
Kate Tatton-Brown (London, United Kingdom), Raghu Prajapati (AHMEDABAD, India) |
| NSRP1 |
Daniel Calame (Houston, United States), James R. Lupski (Houston, United States) |
| NTRK1 | Geoffey Woods (Cambridge, United Kingdom) |
| OFD1 | Brunella Franco (Naples, Italy) |
| P4HTM |
Elisa Rahikkala (Oulu, Finland), Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| PACS1 |
Han Brunner (Nijmegen, Netherlands), Janneke Schuurs-Hoeijmakers (Nijmegen, Netherlands) |
| PCDH19 |
Jozef Gecz (Adelaide, Australia), Emma Palmer (Sydney, Australia), Kristy Kolc (Adelaide, Australia), Ingrid Scheffer (Melbourne, Australia), Lynette Sadleir (Wellington, New Zealand) |
| PCGF2 |
Peter Turnpenny (Exeter, United Kingdom), Andrew Fry (Cardiff, United Kingdom) |
| PEPD |
Heng Wang (Middlefield, United States), Baozhong Xin (Middlefield, United States), Sarah Ossler (Middlefield, United States) |
| PERP recessive |
Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| PGAP1 |
Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan) |
| PHGDH |
Ranad Shaheen (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| PHIP |
Shahid ajmeri (AHMEDABAD, India), Alexander Hoischen (Nijmegen, Netherlands), Sandra Jansen (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands) |
| PI4KA |
Aurora Pujol (Barcelona, Spain), Agusti Rodriguez-Palmero (Badalona, Spain) |
| PIEZO2 |
Brunhilde Wirth (Cologne, Germany), Raoul Heller (Auckland, New Zealand), Mert Karakaya (Cologne, Germany), Andrea Delle Vedove (Cologne, Germany) |
| PIK3CA |
Bill Dobyns (Seattle, United States), Ghayda Mirzaa (Seattle, United States) |
| PIK3R2 |
Bill Dobyns (Seattle, United States), Ghayda Mirzaa (Seattle, United States) |
| PLOD3 |
Lisa Ewans (Sydney, Australia), Tony Roscioli (Kensington, Australia), David Sillence (Sydney, Australia), Frederico Forneris (Pavia, Italy) |
| POC1A |
Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| POGZ |
Marjolein Willemsen (Nijmegen, Netherlands), Evan Eichler (Seattle, United States) |
| POLR3GL |
Éliane Beauregard-Lacroix (Montreal, Canada), Philippe Campeau (Monteral, Canada) |
| PPM1D |
Cynthia Curry (Fresno, United States), Lennart Slagter (Nijmegen, Netherlands), Sandra Jansen (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Lisenka Vissers (Nijmegen, Netherlands) |
| PPP2CA |
Lennart Slagter (Nijmegen, Netherlands), Sandra Jansen (Nijmegen, Netherlands), Lisenka Vissers (Nijmegen, Netherlands) |
| PRDM12 | Geoffey Woods (Cambridge, United Kingdom) |
| PRDM16 |
Sabine Klaassen (Berlin, Germany), Jirko Kühnisch (Berlin, Germany) |
| PRKAR1A |
Rachel Wurth (Maryland, United States), Fady Hannah-Shmouni (Maryland, United States), Fabio R. Faucz (Maryland, United States), Constantine A. Stratakis (Maryland, United States) |
| PRMT7 |
Marcello Scala (Genoa, Italy), Reza Maroofian (London, United Kingdom), Elisa Calí (London, United Kingdom) |
| PRORP | William G. Newman (Manchester, United Kingdom) |
| PRUNE1 | Claudia Gonzaga-Jauregui (Tarrytown, United States) |
| PSMD12 |
Sébastien Küry (Nantes, France), Pawel Stankiewicz (Houston, United States), Bertrand Isidor (Nantes, France) |
| PTPN23 |
Jannette Mailo (Alberta, Canada), Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| PUM1 |
Emma Palmer (Sydney, Australia), Vincenzo Alessandro Gennarino (New York, United States), Jimmy Lloyd Holder (Houston, United States) |
| PURA |
Diana Baralle (Southhampton, United Kingdom), Dierk Niessing (Munich/Ulm, Germany), Margot Reijnders (Maastricht, Netherlands), Jennifer Gordon (Philadelphia, United States) |
| PUS3 |
Ranad Shaheen (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| QRICH1 | Silke Redler (Düsseldorf, Germany) |
| RAC3 |
Tiong Yang Tan (Melbourne, Australia), Valentin Ruault (Montpellier, France) |
| RBM10 |
John Carey (Salt Lake City, United States), Colleen M. Carlston (San Francisco, United States) |
| RNASET2 |
Jutta Gärtner (Göttingen, Germany), Marco Henneke (Göttingen, Germany), Matthias Kettwig (Göttingen, Germany) |
| RNF113A | Anne Slavotinek (San Francisco, United States) |
| RORA |
Sébastien Küry (Nantes, France), Laurent Pasquier (Rennes, France), Erica Davis (Durham, United States), Michel Koenig (Montpellier, France), Gaëtan Lesca (Lyon, France) |
| RSPRY1 |
Maha A. Faden (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| RTTN |
Hanan E Shamseldin (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| RUSC2 | Ali Hassan Alwadei (Riyadh, Saudi Arabia) |
| SATB2 | Yuri Zarate (Little Rock (AR), United States) |
| SCAPER | Tamar Ben-Yosef (Haifa, Israel) |
| SCN11A | Geoffey Woods (Cambridge, United Kingdom) |
| SCN2A |
Katherine Howell (Melbourne, Australia), Emma Palmer (Sydney, Australia), Michael Hildebrand (Melbourne, Australia) |
| SCN9A | Geoffey Woods (Cambridge, United Kingdom) |
| SEC24D |
Keiichi Ozono (Osaka, Japan), Shinji Takeyari (Osaka, Japan) |
| SERAC1 |
Arjan Brouwer (Nijmegen, Netherlands), Saskia Wortmann (Nijmegen, Netherlands) |
| SETBP1 | Evan Eichler (Seattle, United States) |
| SETBP1 related developmental delay | Bregje Bon (Nijmegen, Netherlands) |
| SETBP1 Schinzel-Giedion syndrome | Bregje Bon (Nijmegen, Netherlands) |
| SHANK1 |
Thomas Bourgeron (Paris, France), Richard Delorme (Paris, France), Gudrun A. Rappold (Heidelberg, Germany), Simone Berkel (Heidelberg, Germany) |
| SHANK2 |
Gudrun A. Rappold (Heidelberg, Germany), Richard Delorme (Paris, France), Thomas Bourgeron (Paris, France), Simone Berkel (Heidelberg, Germany) |
| SHANK3 |
Simone Berkel (Heidelberg, Germany), Richard Delorme (Paris, France), Thomas Bourgeron (Paris, France), Gudrun A. Rappold (Heidelberg, Germany) |
| SHH |
Christèle Dubourg (Rennes, France), Sylvie Odent (Rennes, France), Alinoë Lavillaureix (Rennes, France) |
| SHMT2 |
Aurora Pujol (Barcelona, Spain), Agusti Rodriguez-Palmero (Badalona, Spain) |
| SHOX2 |
Gudrun A. Rappold (Heidelberg, Germany), Sandra Hoffmann (Heidelberg, Germany) |
| SIK1 |
Bill Dobyns (Seattle, United States), Alex Paciorkowski (New York, United States) |
| SKI |
Dorien Schepers (Antwerp, Belgium), Bart Loeys (Antwerp, Belgium) |
| SLC12A6 |
Joohyun Park (Tübingen, Germany), Tobias B. Haack (Tübingen, Germany) |
| SLC18A3 | Anna Hakonen (Helsinki, Finland) |
| SLC45A1 |
Myriam Srour (Montreal, Canada), Sarah Alsubhi (Montreal, Canada) |
| SLC6A9 |
Irene Mademont-Soler (Girona, Spain), Dolors Casellas-Vidal (Girona, Spain) |
| SMAD3 |
Dorien Schepers (Antwerp, Belgium), Bart Loeys (Antwerp, Belgium) |
| SMARCA4 |
Gijs Santen (Leiden, Netherlands), Eline van der Sluijs (Leiden, Netherlands) |
| SMARCB1 |
Emma Clement (London, United Kingdom), Cristina Dias (London, United Kingdom) |
| SMARCC2 |
Vandana Shashi (Durham, United States), Keren Machol (Houston, United States), Philippe Campeau (Monteral, Canada) |
| SMG8 |
Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| SMG9 |
Ranad Shaheen (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| SMS |
Angela Peron (Salt Lake City, United States), Charles E. Schwartz (Greenwood, United States) |
| SON |
John Carey (Salt Lake City, United States), Eun-Young Erin Ahn (Mobile, United States), Lisenka Vissers (Nijmegen, Netherlands) |
| SOX4 |
Claudio Graziano (Bologna, Italy), Veronique Lefebvre (Philadelphia, United States) |
| SOX6 |
Cedric le Caignec (Toulouse, France), Veronique Lefebvre (Philadelphia, United States) |
| SRCAP |
Jane Hurst (London, United Kingdom), Lara Menzies (London, United Kingdom) |
| STXBP1 |
Mieke Haelst (Amsterdam, Netherlands), Matthijs Verhage (Amsterdam, Netherlands), Mala Misra-Isrie (Amsterdam, Netherlands), Jovana Kovacevic (Amsterdam, Netherlands) |
| SUCLA2 |
Ron A. Wevers (Nijmegen, Netherlands), Ulrike Steuerwald (Tórshavn, Faroe Islands), Carlo Dionisi-Vici (Rome, Italy) |
| SUCLG1 |
Cécile Rouzier (Nice, France), Annabelle Chaussenot (Nice, France) |
| SYT1 |
Kate Baker (Cambridge, United Kingdom), Anna Kolesnik-Taylor (Cambridge, United Kingdom) |
| TAF1 | Gholson Lyon (New York, United States) |
| TAF6 |
Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| TANGO2 |
Kuntal Sen (Washington, DC, United States), Andrea L. Gropman (Washington, DC, United States) |
| TBC1D24 |
Sanjay Sisodiya (London, United Kingdom), Philippe Campeau (Monteral, Canada) |
| TBCK |
Xilma Ortiz-Gonzalez (Philadelphia, United States), Raghu Prajapati (AHMEDABAD, India), Elizabeth Bhoj (Philadelphia, United States) |
| TBR1 |
Olaf Bodamer (Boston, United States), Sophie Nambot (Dijon, France), Hannelore Ehrenreich (Göttingen, Germany) |
| TBX4 | Ernie Bongers (Nijmegen, Netherlands) |
| TCOF1 |
Ariane Schmetz (Düsseldorf, Germany), Dagmar Wieczorek (Düsseldorf, Germany) |
| TGFB3 | Aline Verstraeten (Antwerp, Belgium) |
| THOC2 |
Michael Field (Waratah, Australia), Jozef Gecz (Adelaide, Australia), Emma Palmer (Sydney, Australia), Jackie Boyle (Waratah, Australia), Raman Kumar (Adelaide, Australia) |
| TMEM126B |
Charlotte Alston (Newcastle upon Tyne, United Kingdom), Robert McFarland (Newcastle upon Tyne, United Kingdom), Robert Taylor (Newcastle upon Tyne, United Kingdom) |
| TMEM231 |
Ranad Shaheen (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| TMEM94 |
Joshi Stephen (Maryland, United States), Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| TNIK |
Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| TPP2 |
Isis Atallah (Lausanne, Switzerland), Andrea Superti-Furga (Lausanne, Switzerland) |
| TRIO |
Diana Baralle (Southhampton, United Kingdom), Konstantinos Varvagiannis (Athens, Greece), Bert de Vries (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Lisenka Vissers (Nijmegen, Netherlands) |
| TRIP12 |
Nuria Brämswig (Essen, Germany), Dagmar Wieczorek (Düsseldorf, Germany) |
| TRIP4 |
Ana Ferreiro (Paris, France), Isabelle Duband-Goulet (Paris, France), Rocío Nur Villar Quiles (Paris, France) |
| TRMT1 |
Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| TSEN15 |
Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| TUBB2A |
Stefanie Brock (Brussels, Belgium), Anna Jansen (Antwerp, Belgium) |
| TXNL4A | William G. Newman (Manchester, United Kingdom) |
| UGDH |
Bruno Reversade (Singapore), Saumya Shekhar Jamuar (Singapore) |
| UNC45A |
Laurence Faivre (Dijon, France), Caroline Racine (Dijon, France) |
| UNC80 |
Hanan E Shamseldin (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| UROC1 |
Rafael Artuch (Barcelona, Spain), Carmen Espinós (Valencia, Spain) |
| USP7 |
Christian Schaaf (Houston, United States), Pilar Caro (Heidelberg, Germany) |
| VPS13B |
Heng Wang (Middlefield, United States), Baozhong Xin (Middlefield, United States), Sarah Ossler (Middlefield, United States) |
| WAC |
Konstantinos Varvagiannis (Athens, Greece), Bert de Vries (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Lisenka Vissers (Nijmegen, Netherlands) |
| WDR26 |
Matthew Deardorff (Los Angeles, United States), Cara Skraban (Philadelphia, United States) |
| WDR35 | Joanna Walczak-Sztulpa (Poznan, Poland) |
| WDR81 |
Ranad Shaheen (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| WWOX | Rami Aqeilan (Jerusalem, Israel) |
| YY1 |
Giuseppe Testa (Milan, Italy), David Koolen (Nijmegen, Netherlands), Michele Gabriele (Milan, Italy), Bert de Vries (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands) |
| ZDHHC9 |
Kate Baker (Cambridge, United Kingdom), Anna Kolesnik-Taylor (Cambridge, United Kingdom) |
| ZFHX4 |
María Palomares Bralo (Madrid, Spain), Bert Callewaert (Ghent, Belgium), Sixto García-Miñaúr (Madrid, Spain), Fernando Santos-Simarro (Madrid, Spain), Sarah Vergult (Ghent, Belgium) |
| ZIC1 |
Steve Twigg (Oxford, United Kingdom), Andrew Wilkie (Oxford, United Kingdom), Debbie Shears (Oxford, United Kingdom) |
| ZMYND11 |
Amelle Shillington (Cincinnati, United States), Jason Tchieu (Cincinnati, United States) |
| ZNF148 |
Servi JC Stevens (Maastricht, Netherlands), Abdallah F Elias (Montana, United States) |
| ZNF711 |
Frank Kooy (Antwerp, Belgium), Anke Van Dijck (Antwerp, Belgium) |
| ZSWIM6 |
Michael Field (Waratah, Australia), Jozef Gecz (Adelaide, Australia), Emma Palmer (Sydney, Australia), Raman Kumar (Adelaide, Australia), Lucinda Murray (Sydney, Australia) |