| Name | Moderators |
|---|---|
| ABAT |
Phillip Pearl (Boston, United States), Michael Gibson (Spokane, United States), Melissa DiBacco (Boston, United States) |
| ABCA2 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| ACER3 | Cungui Mao (New York, United States) |
| ACTL6A |
Mari Tokita (San Diego, United States), Ronit Marom (Houston, United States) |
| ACTL6B | Philippe Campeau (Montréal, Canada) |
| ACTL6B dominant | Philippe Campeau (Montréal, Canada) |
| ACTL6B recessive |
Carl Ernst (Montreal, Canada), Philippe Campeau (Montréal, 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) |
| ADARB1 |
Tiong Yang Tan (Melbourne, Australia), Calder Hamill (Clayton, Australia) |
| ADAT3 |
Shital Tester (Ahmedabad, India), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| 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), Lex Dingemans (Nijmegen, Netherlands), Lusine Harutyunyan (Antwerpen, Belgium), Bert de Vries (Nijmegen, Netherlands) |
| AGK |
Sofia Barbosa-Gouveia (Santiago de Compostela, Spain), Álvaro Hermida Ameijeiras (Santiago de Compostela, Spain) |
| AGMO |
Katrin Watschinger (Innsbruck, Austria), Wendy Chung (New York, United States) |
| AHDC1 |
Shital Tester (Ahmedabad, India), Margje Sinnema (Maastricht, Netherlands), Sander Stegmann (Maastricht, Netherlands), Vasudevan Pradeep (Leicester, United Kingdom) |
| AIMP2 |
Anju Shukla (Manipal, India), Kiranam Chatti (Hyderabad, India), Neerja Gupta (New Delhi, India) |
| AKT3 |
Bill Dobyns (Seattle, United States), Ghayda Mirzaa (Seattle, United States) |
| ALKBH8 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| ALPK3 |
Johanna C. Herkert (Groningen, Netherlands), Judith Verhagen (Rotterdam, Netherlands) |
| ALX1 |
Nurten Akarsu (Ankara, Turkey), Arda Cetinkaya (Istanbul, Turkey) |
| AMOTL1 |
Alanna Strong (Philadelphia, United States), Timothy Cox (Kansas City, United States) |
| ANKH |
Ernst Reichenberg (Farmington, United States), I-ping Chen (Farmington, United States), Charlene Williams (Camden, United States), Thomas Carpenter (New Haven, United States) |
| ANKLE2 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| ANKRD11 |
Charlotte Ockeloen (Nijmegen, Netherlands), Rolph Pfundt (Nijmegen, Netherlands), Karen Low (Bristol, United Kingdom), Raghu Prajapati (AHMEDABAD, India), Gholson Lyon (Staten Island, New York, United States), Evi Andriessen (Nijmegen, Netherlands) |
| ANKRD17 |
Maya Chopra (Boston, United States), Chris Gordon (Paris, France) |
| ANO10 |
Ioannis Livanos (Nicosia, Cyprus), Christina Votsi (Nicosia, Cyprus), Kryproula Christodoulou (Nicosia, Cyprus) |
| AP1B1 |
Mohnish Suri (Nottingham, United Kingdom), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| AP3B2 |
Hormos Dafsari (Cologne, Germany), Maxi Wiese (Cologne, Germany) |
| AP3D1 |
Hormos Dafsari (Cologne, Germany), Maxi Wiese (Cologne, Germany) |
| 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), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
| ARID2 |
Gijs Santen (Leiden, Netherlands), Eline van der Sluijs (Leiden, Netherlands), Nuria Brämswig (Münster, Germany) |
| ARL14EP |
Ranad Shaheen (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| ARL3 |
John A Sayer (Newcastle Upon Tyne, United Kingdom), Laura J Powell (Newcastle Upon Tyne, United Kingdom) |
| ARL6 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| ARMC5 |
Rachel Wurth (Maryland, United States), Fady Hannah-Shmouni (Maryland, United States), Fabio R. Faucz (Maryland, United States), Constantine A. Stratakis (Maryland, United States) |
| ARMC9 |
Ashwin Dalal (Hyderabad, India), Shubha R Phadke (Lucknow, India), Anjana Kar (Hyderabad, India) |
| ARV1 |
Farhad Abbasi (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| ARX | Bill Dobyns (Seattle, United States) |
| ASCC1 |
Laura Bernardini (Rome, Italy), Antonio Pizzuti (Rome, Italy), Maria Grazia Giuffrida (Rome, Italy), Gioia Mastromoro (Rome, Italy) |
| ASNA1 |
Judith Verhagen (Rotterdam, Netherlands), Ingrid M.B.H. van de Laar (Rotterdam, Netherlands) |
| ASPH |
Nisha Patel (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| 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), Irene Valenzuela (Barcelona, Spain) |
| ATN1 |
Stefan Arold (Thuwal, Saudi Arabia), Emma Palmer (Sydney, Australia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| ATOH1 |
Karen B. Avraham (Tel Aviv, Israel), Zippora Brownstein (Tel Aviv, Israel) |
| ATP1A1 | Francesco Nicita (Rome, Italy) |
| 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) |
| ATP6V0C |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| ATP6V1B2 |
Yongyi Yuan (Beijing, China), Pu Dai (Beijing, China), Xi Lin (Atlanta, United States) |
| ATP8A2 |
Joana Damásio (Porto, Portugal), João Moura (Porto, Portugal), Mariana Santos (Porto, Portugal) |
| ATXN2L |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| AUTS2 |
Gea Beunders (Amsterdam, Netherlands), Erik Sistermans (Amsterdam, Netherlands) |
| B4GALT7 |
Marzia Pollazzon (Reggio Emilia, Italy), Stefano Giuseppe Caraffi (Reggio Emilia, Italy), Livia Garavelli (Reggio Emilia, Italy), Andre Superti-Furga (Lausanne, Switzerland) |
| BBS1 |
Floriana Secondulfo (Naples, Italy), Miriam Zacchia (Naples, Italy) |
| 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 |
Claudia Gonzaga-Jauregui (Tarrytown, United States), Tiong Yang Tan (Melbourne, Australia) |
| BPTF |
Pawel Stankiewicz (Houston, United States), Yaping Yang (Houston, United States) |
| BRAT1 |
Siddharth Srivastava (Boston, United States), Sakkubai Naidu (Baltimore, United States) |
| BRPF1 |
Farhad Abbasi (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| BRWD3 | Michael Field (Waratah, Australia) |
| BSCL2 |
Adolfo Lopez de Munain (San Sebastian, Spain), Gorka Fernández-Eulate (Paris, France), Aurora Pujol (Barcelona, Spain) |
| C12orf57 |
Raghu Prajapati (AHMEDABAD, India), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| C18orf32 |
Smrithi Salian (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| C2orf69 |
Miriam Elbracht (Aachen, Germany), Florian Kraft (Aachen, Germany) |
| CA8 | Chris Richmond (Brisbane, Australia) |
| CACNA1A |
M.J.V. Hoffer (Leiden, Netherlands), A.M.J.M. van den Maagdenberg (Leiden, Netherlands), A.V.E. Harder (Leiden, Netherlands) |
| CAMK2A |
Geeske van Woerden (Rotterdam, Netherlands), Sandra Mercier (Nantes, France), Sébastien Küry (Nantes, France) |
| CAMK2B |
Geeske van Woerden (Rotterdam, Netherlands), Sandra Mercier (Nantes, France), Sébastien Küry (Nantes, France) |
| CAMLG |
Daisy Rymen (Leuven, Belgium), Matthew Wilson (Leuven, Belgium) |
| CC2D1A |
Elif Funda Sener (Kayseri, Turkey), Minoo Rassoulzadegan (Nice, France) |
| CC2D2A |
Muhammad Ismail Khan (Khyber Pakhtunkhwa, Pakistan), Musharraf Jelani (Khyber Pakhtunkhwa, Pakistan) |
| 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) |
| CELF4 | Rita Barone (Catania, Italy) |
| CENPF | Isabel Filges (Basel, Switzerland) |
| CEP120 |
Enza Maria Valente (Pavia, Italy), Susanne Roosing (Nijmegen, Netherlands), Valentina Serpieri (Pavia, Italy) |
| CEP57 |
Fernando Santos-Simarro (Madrid, Spain), Marta Miguez (Madrid, Spain), María Palomares Bralo (Madrid, Spain), Anna Mª Cueto-González (Barcelona, Spain) |
| CEP78 |
Pietro Farinelli (Copenhagen, Denmark), Konstantinos Nikopoulos (Lausanne, Switzerland), Carlo Rivolta (Leicester, United Kingdom) |
| CERT1 |
Hiroaki Murakami (Gifu, Japan), Kenji Kurosawa (Kanagawa, Japan), Kentaro Hanada (Tokyo, Japan), Vincenzo Alessandro Gennarino (New York, United States) |
| CHD2 | Evan Eichler (Seattle, United States) |
| CHD3 |
Erik van Heesbeen (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| CHD4 | Karin Weiss (Haifa, Israel) |
| CHD5 |
Cyril Mignot (Paris, France, Metropolitan), Ilaria Parenti (Essen, Germany), Christel Depienne (Essen, Germany) |
| CHD8 |
Raphael Bernier (Seattle, United States), Evan Eichler (Seattle, United States), Kim Truijen (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
| CHKB |
Ichizo Nishino (Tokyo, Japan), Sophelia Hoi Shan Chan (Hong Kong SAR, China), Brian Hon Yin Chung (Hong Kong, Hong Kong) |
| CHR1Q21 |
Heather Mefford (Seattle, United States), Evan Eichler (Seattle, United States) |
| CHRNG |
Andres Nascimento (Barcelona, Spain), Daniel Natera de Benito (Barcelona, Spain) |
| CHST3 |
Somya Srivastava (Lucknow, India), Shubha R Phadke (Lucknow, India) |
| CIC |
Huda Zoghbi (Houston, United States), Mark Durham (Houston, United States), Kim Truijen (Nijmegen, Netherlands) |
| CLCN4 |
Vera Kalscheuer (Berlin, Germany), Emma Palmer (Sydney, Australia) |
| CLDN11 |
Sylvia Stockler (Vancouver, Canada), Korbinian Riedhammer (Munich, Germany), Simone Race (Vancouver, Canada) |
| 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) |
| CNOT2 | Jean-Marc Good (Lausanne, Switzerland) |
| CNTNAP1 | Andre Megarbane (Beirut, Lebanon) |
| CNTNAP2 |
Gianluca D'Onofrio (Genoa, Italy), Andrea Accogli (Montreal, Canada) |
| COG4 | Carlos R. Ferreira (Washington, DC, United States) |
| COG6 |
Miriam Elbracht (Aachen, Germany), Florian Kraft (Aachen, Germany), Licia Lugli (Modena, Italy), Alberto Berardi (Modena, Italy) |
| COG7 |
Dulce Quelhas (Porto, Portugal), Jaak Jaeken (Leuven, Belgium) |
| COL27A1 | Claudia Gonzaga-Jauregui (Tarrytown, United States) |
| COPB1 |
William Macken (Southampton, United Kingdom), Diana Baralle (Southhampton, United Kingdom) |
| COQ2 |
Eva Trevisson (Padova, Italy), Catarina M. Quinzii (New York, United States) |
| COQ9 |
Halil Akar (Ankara, Turkey), Asburce Olgac (Ankara, Turkey) |
| COX7B |
Brunella Franco (Naples, Italy), Alessia Indrieri (Naples, Italy) |
| CPE |
Georgia Vasileiou (Erlangen, Germany), Elisabeth Bosch (Erlangen, Germany) |
| CRADD |
Nataliya Di Donato (Dresden, Germany), Bill Dobyns (Seattle, United States) |
| CSNK1G1 |
Elizabeth Bhoj (Philadelphia, United States), Nina B. Gold (Boston, United States) |
| CTNNB1 |
Brian Hon Yin Chung (Hong Kong, Hong Kong), Mandy Tsang (Hong Kong, Hong Kong), Stephanie Ho (Hong Kong, China), Ho-ming Luk (Hong Kong, China), Ivan Fai-man Lo (Hong Kong, China) |
| CTNND1 |
Jamal Ghoumid (Lille, France), Sylvie Manouvrier (Lille, France) |
| CTU2 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| CUL4B | Emanuele Bartolini (Pisa, Italy) |
| CWC27 |
Rui Chen (Houston, United States), Ruifang Sui (Peking, China) |
| CYFIP2 |
Anais Begemann (Schlieren, Switzerland), Anita Rauch (Schlieren-Zurich, Switzerland) |
| DCAF17 |
Raghu Prajapati (AHMEDABAD, India), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| DCC |
Ashley Pamela Lesle Marsh (Melbourne, Australia), Saumya Shekhar Jamuar (Singapore) |
| DDB1 | Sue White (Melbourne, Australia) |
| DDX3X | Lex Dingemans (Nijmegen, Netherlands) |
| DDX59 |
Hanan E Shamseldin (Riyadh, Saudi Arabia), Raghu Prajapati (AHMEDABAD, India), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| DEAF1 |
Lisenka Vissers (Nijmegen, Netherlands), Philip Jensik (Carbondale, United States), Maria Nabais Sá (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands), Anneke Vulto-van Silfhout (Nijmegen, Netherlands) |
| DEAF1 autosomal dominant |
Lisenka Vissers (Nijmegen, Netherlands), Philip Jensik (Carbondale, United States), Maria Nabais Sá (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands), Anneke Vulto-van Silfhout (Nijmegen, Netherlands) |
| DEAF1 autosomal recessive |
Lisenka Vissers (Nijmegen, Netherlands), Philip Jensik (Carbondale, United States), Maria Nabais Sá (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands), Anneke Vulto-van Silfhout (Nijmegen, Netherlands) |
| DEGS1 |
Agusti Rodriguez-Palmero (Barcelona, Spain), Aurora Pujol (Barcelona, Spain) |
| Deletion 22q11 | Lex Dingemans (Nijmegen, Netherlands) |
| DENND5A |
Emily Banks (Montreal, Canada), Peter McPherson (Montreal, Canada) |
| DHX30 | Davor Lessel (Hamburg, Germany) |
| DIS3L2 | Eamonn R Maher (Cambridge, United Kingdom) |
| DLD |
Attila Ambrus (Budapest, Hungary), László Tretter (Budapest, Hungary), Eszter Szabó (Budapest, Hungary) |
| DNAJC19 |
Steven Greenway (Calgary, Canada), Aneal Khan (Calgary, Canada) |
| DNMT3A | Kate Tatton-Brown (London, United Kingdom) |
| DNMT3A gain of function | Lex Dingemans (Nijmegen, Netherlands) |
| DOCK6 |
Ranad Shaheen (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| DOCK7 | Dilşad Türkdoğan (Istanbul, Turkey) |
| DPH1 |
Ho-ming Luk (Hong Kong, China), Ivan Fai-man Lo (Hong Kong, China), Shirley Sze-Wing Cheng (Hong Kong, China) |
| DPM2 |
Eva Morava-Kozicz (Rochester), Silvia Radenkovic (Rochester, United States) |
| DVL1 |
A Haseena Sait (Lucknow, India), Shubha R Phadke (Lucknow, India) |
| DYRK1A |
Raghu Prajapati (AHMEDABAD, India), Bregje Bon (Nijmegen, Netherlands), Evan Eichler (Seattle, United States) |
| EARS2 |
Sofia Barbosa-Gouveia (Santiago de Compostela, Spain), Álvaro Hermida Ameijeiras (Santiago de Compostela, Spain) |
| EBF3 |
Hsiao-Tuan Chao (Houston, United States), Michael F. Wangler (Houston, United States) |
| EFNB1 |
Jorge Corona Rivera (Guadalajara, Mexico), Christian Peña-Padilla (Guadalajara, Mexico), Rocío Cortés-Pastranaa (Guadalajara, Mexico) |
| 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 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| ELOVL5 |
Alfredo Brusco (Torino, Italy), Barbara Borroni (Brescia, Italy) |
| EMC10 |
Muhammad Umair (Riyadh, Saudi Arabia), Ahmed Alfares (Riyadh, Saudi Arabia), Majid Alfadhel (Riyadh, Saudi Arabia) |
| EML1 |
Maarten Lequin (Utrecht, Netherlands), Renske Oegema (Utrecht, Netherlands) |
| ENPP1 | Carlos R. Ferreira (Washington, DC, United States) |
| EOGT |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| ERAL1 |
Leigh A.M. Demain (Manchester, United Kingdom), William G. Newman (Manchester, United Kingdom) |
| ESAM |
Edoardo Errichiello (Pavia, Italy), Mauro Lecca (Pavia, Italy) |
| ETHE1 |
Valeria Tiranti (Milan, Italy), Ivano Di Meo (Milan, Italy), Costanza Lamperti (Milan, Italy) |
| EXOC6B |
Katta Mohan Girisha (Udupi, India), Gandham Bhavani (Manipal, India), Swati Singh (Manipal) |
| EZH2 | Kate Tatton-Brown (London, United Kingdom) |
| FAM111B |
Sandra Mercier (Nantes, France), Sébastien Küry (Nantes, France) |
| FAM149B1 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| FBXL4 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| FBXO11 |
Sandra Jansen (Nijmegen, Netherlands), Lisenka Vissers (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
| FBXW7 |
Tiong Yang Tan (Melbourne, Australia), Calder Hamill (Clayton, Australia) |
| FGF14 |
Pablo Iruzubieta (San Sebastian, Spain), David Pellerin (Montreal, Canada), Matt Danzi (Miami, United States), Stephan Zuchner (Miami, United States), Bernard Brais (Montreal, Canada) |
| FIG4 |
Éliane Beauregard-Lacroix (Montreal, Canada), Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| FLCN |
Elżbieta Radzikowska (Poland), Aleksandra Jezela-Stanek (Warsaw, Poland) |
| FN1 |
Jade England (Montreal, Canada), Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| FN1 GFND2 |
Jade England (Montreal, Canada), Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| FN1-SMDCF |
Jade England (Montreal, Canada), Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| FOXP1 |
Bert Callewaert (Ghent, Belgium), Saskia Koene (Nijmegen, Netherlands) |
| FOXP2 |
Angela Morgan (Melbourne, Australia), Simon Fisher (Nijmegen, Netherlands) |
| FOXP3 |
Queenie K-G Tan (Durham, United States), Raymond J Louie (Greenwood, United States) |
| FOXRED1 |
Sofia Barbosa-Gouveia (Santiago de Compostela, Spain), Álvaro Hermida Ameijeiras (Santiago de Compostela, Spain) |
| FRMPD4 |
Meagan Collins (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| GABBR2 |
Yuri Zarate (Little Rock (AR), United States), Debopam Samanta (Little Rock, United States) |
| GAD1 |
Sarah Weckhuysen (Antwerp, Belgium), Homa Tajsharghi (Skövde, Sweden) |
| GATA3 |
Amin J. Barakat (Washington, DC, United States), Sajel Lala Kana (Miami, United States) |
| GINS3 |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| GLI2 |
Christèle Dubourg (Rennes, France), Sylvie Odent (Rennes, France), Alinoë Lavillaureix (Rennes, France) |
| GLRA2 |
Ronit Marom (Houston, United States), Michael F. Wangler (Houston, United States) |
| GM2A |
Jayesh Sheth (Ahmedabad, India), Aadhira Nair (Ahmedabad, India), Sheela Nampoothiri (Kochin, India), Chaitnya Datar (Pune, India) |
| GMNN | Ernie Bongers (Nijmegen, Netherlands) |
| GMPPA | Christian A. Hübner (Jena, Germany) |
| GNAI1 |
Petr Kuglik (Brno, Czech Republic), Marketa Wayhelova (Prague, Czech Republic) |
| GNB1 |
Kwame Anyane-Yeboa (New York, United States), Anya Revah-Politi (New York, United States) |
| GPAA1 |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| GPT2 |
Eric M. Morrow (Providence, United States), Brian C. Kavanaugh (Providence, United States) |
| GRIA1/GRIA2/GRIA3/GRIA4 | Allan Bayat (Dianalund, Denmark) |
| 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), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| HARS2 |
Leigh A.M. Demain (Manchester, United Kingdom), William G. Newman (Manchester, United Kingdom) |
| HCN1 |
Carla Marini (Florence, Italy), Christel Depienne (Essen, Germany) |
| HEATR5B | Martin Breuss (Aurora, United States) |
| HERC1 |
Shagun Aggarwal (Hyderabad, India), Aneek Das Bhowmik (Hyderabad, India), Ashwin Dalal (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) |
| HNMT |
Willem Verhoeven (Rotterdam, Netherlands), Jos Egger (Nijmegen, Netherlands) |
| HNRNPK | Petra Zwijnenburg (Amsterdam, Netherlands) |
| HOXA1 |
SJ Patil (Bengaluru, India), Prince Jacob (Mysuru, India) |
| HPSE2 | William G. Newman (Manchester, United Kingdom) |
| HSPD1 | Peter Bross (Aarhus, Denmark) |
| IFT27 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| 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), Cheryl Shoubridge (Adelaide, Australia), Jackie Boyle (Waratah, Australia), Jessica Radley (London, United Kingdom), Emma Palmer (Sydney, Australia) |
| IREB2 | David Amor (Melbourne, Australia) |
| 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) |
| JARID2 |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| KANSL1 |
Evan Eichler (Seattle, United States), David Koolen (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
| KAT5 |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| KAT6B |
Gabrielle Lemire (Ottowa, Canada), Philippe Campeau (Montréal, Canada) |
| KAT8 |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| KCNA1 |
Agusti Rodriguez-Palmero (Barcelona, Spain), Aurora Pujol (Barcelona, 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) |
| KCNB1 | Rima Nabbout (Paris, France) |
| KCNC1 |
Joohyun Park (Tübingen, Germany), Holger Lerche (Tübingen, Germany), Tobias B. Haack (Tübingen, Germany) |
| KCNC2 |
Yvonne Weber (Aachen, Germany), Stefan Wolking (Aachen, Germany) |
| KCNH1 | Michael Gabbett (Brisbane, Australia) |
| KCNK9 |
John M. Graham Jr. (Los Angeles, United States), Margot A. Cousin (Rochester, United States), Emma L. Veale (Chatham Maritime, United Kingdom), Matthew Deardorff (Los Angeles, United States) |
| KCNN2 |
Fanny Mochel (Paris, France), Christel Depienne (Essen, Germany) |
| KCNN3 |
Lukáš Ryba (Prague, Czech Republic), Markéta Havlovicová (Prague, Czech Republic), Martin Schwarz (Prague, Czech Republic) |
| KCNQ2 |
Maurizio Taglialatela (Naples, Italy), Sarah Weckhuysen (Antwerp, Belgium) |
| KCNQ3 |
Maurizio Taglialatela (Naples, Italy), Sarah Weckhuysen (Antwerp, Belgium) |
| KCNT2 |
Arin Bhattacharjee (Buffalo, United States), Rebecca Macintosh (Sydney, Australia), Emma Palmer (Sydney, Australia) |
| KDELR2 |
Dimitra Micha (Amsterdam, Netherlands), Alessandra Maugeri (Amsterdam, Netherlands), Mariet Elting (Amsterdam, Netherlands), Marelise Eekhoff (Amsterdam, Netherlands) |
| KDM3B | Lex Dingemans (Nijmegen, Netherlands) |
| KDM5A | Maria Chahrour (Dallas, United States) |
| KIAA1109 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| KIF16B |
Muhammad Umair (Riyadh, Saudi Arabia), Ahmed Alfares (Riyadh, Saudi Arabia), Majid Alfadhel (Riyadh, Saudi Arabia) |
| KIF4A | Isabel Filges (Basel, Switzerland) |
| KIF5A | Mohammed Faruq (New Delhi, India) |
| KLHL24 | Cristina Has (Freiburg, Germany) |
| KMT2B |
Kathleen Gorman (London, United Kingdom), Manju Kurian (London, United Kingdom) |
| KMT2E |
Anne O'Donnell Luria (Boston, United States), Emily Groopman (Washington DC, United States), Lynn Pais (Boston, United States) |
| 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) |
| LAMP2 | Matthew Taylor (Aurora, United States) |
| LARP7 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| LARS2 |
Leigh A.M. Demain (Manchester, United Kingdom), William G. Newman (Manchester, United Kingdom) |
| LIFR |
Fernando Santos-Simarro (Madrid, Spain), Sofía Siccha Arancibia (Barcelona, Spain) |
| LINS1 |
Jayesh Sheth (Ahmedabad, India), Aadhira Nair (Ahmedabad, India), Harsh Sheth (Ahmedabad, India), Frenny Sheth (Ahmedabad) |
| 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 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| LSS |
Thomas Besnard (Nantes, France), Bertrand Isidor (Nantes, France) |
| LZTR1 |
Miriam Smith (Manchester, United Kingdom), Gareth Evans (Manchester, United Kingdom) |
| MAGEL2 |
Michael Fountain (Houston, United States), Michael Fountain (Houston, United States), Megan Rech (Houston, United States), Christian Schaaf (Houston, United States) |
| MAN1B1 |
Halil Akar (Ankara, Turkey), Asburce Olgac (Ankara, Turkey), Sevil Dorum (Bursa, Turkey) |
| MBTPS2 |
Hakon Hakonarson (Philadelphia, United States), Alanna Strong (Philadelphia, United States) |
| MECP2 duplication | Hilde Van Esch (Leuven, Belgium) |
| MED12 |
Michael Lyons (North Charleston, United States), Mike Friez (Greenwood, United States) |
| MED13 |
Flavio Faletra (Udine, Italy), Catia Mio (Udine, Italy) |
| MED13L |
Reza Asadollahi (London, United Kingdom), Anita Rauch (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 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| METTL23 | Mo Almannai (Riyadh, Saudi Arabia) |
| MFF |
Hanan E Shamseldin (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| 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), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| MSL2 |
Philippe Campeau (Montréal, Canada), Maria Borroto (Montreal, Canada) |
| MSL3 |
Theresa Brunet (Munich, Germany), Matias Wagner (Munich, Germany) |
| MTOR |
Bill Dobyns (Seattle, United States), Ghayda Mirzaa (Seattle, United States) |
| MYH2 | Homa Tajsharghi (Skövde, Sweden) |
| MYH3 | Anna Hakonen (Helsinki, Finland) |
| MYH3 autosomal dominant | Anna Hakonen (Helsinki, Finland) |
| MYH3 autosomal recessive | Anna Hakonen (Helsinki, Finland) |
| MYO18B |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| MYOD1 |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| MYT1L |
Björn Menten (Gent, Belgium), Alisdair McNeill (Sheffield, United Kingdom), Raghu Prajapati (AHMEDABAD, India), David Koolen (Nijmegen, Netherlands) |
| NAA10 | Gholson Lyon (Staten Island, New York, United States) |
| NAA15 | Gholson Lyon (Staten Island, New York, United States) |
| NAA20 |
Gianluca D'Onofrio (Genoa, Italy), Andrea Accogli (Montreal, Canada) |
| NACC1 |
Vandana Shashi (Durham, United States), Kelly Schoch (Durham, United States), Michael Wangler (Houston, United States) |
| NARS1 |
Stephanie Efthymiou (London, United Kingdom), Henry Houlden (London, United Kingdom) |
| NCOR2 | Philippe Campeau (Montréal, 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) |
| NDUFB11 |
Brunella Franco (Naples, Italy), Alessia Indrieri (Naples, Italy) |
| NDUFS6 |
Cécile Rouzier (Nice, France), Annabelle Chaussenot (Nice, France) |
| NECAP1 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| NEPRO |
Katta Mohan Girisha (Udupi, India), Dhanya Narayan (Manipal, India) |
| NEUROG1 |
Jayesh Sheth (Ahmedabad, India), Aadhira Nair (Ahmedabad, India), Harsh Sheth (Ahmedabad, India), Frenny Sheth (Ahmedabad), Jhanvi Shah (Ahmedabad, India), Ketan Patel (Ahmedabad, India), Deepika Jain (Ahmedabad, India) |
| NF2 |
Miriam Smith (Manchester, United Kingdom), Gareth Evans (Manchester, United Kingdom) |
| NFASC |
Stephanie Efthymiou (London, United Kingdom), Henry Houlden (London, United Kingdom) |
| NFIA | Himanshu Goel (Newcastle, Australia) |
| NFIB | Himanshu Goel (Newcastle, Australia) |
| NFIX |
A Haseena Sait (Lucknow, India), Shubha R Phadke (Lucknow, India) |
| 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) |
| NPR2 | Mohammed Faruq (New Delhi, India) |
| 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) |
| NUBPL |
Peggy S. Eis (New York, United States), Eli Hatchwell (Oxfordshire, United Kingdom), Virginia Kimonis (Irvine, CA, United States), Birgitt Schuele (Stanford, CA, United States) |
| ODC1 |
André Bachmann (Grand Rapids, United States), Caleb Bupp (Grand Rapids, United States) |
| OFD1 | Brunella Franco (Naples, Italy) |
| OTUD6B | |
| OTX2 |
Julie Plaisancie (Toulouse, France), Nicolas Chassaing (Toulouse, France) |
| OXR1 |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| P4HTM |
Elisa Rahikkala (Oulu, Finland), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| PACS1 |
Han Brunner (Nijmegen, Netherlands), Janneke Schuurs-Hoeijmakers (Nijmegen, Netherlands) |
| PANK2 |
Allison Gregory (Portland, United States), Susan Hayflick (Portland, United States), Alison Freed (Portland, United States) |
| PAX7 |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| PCDH19 |
Jozef Gecz (Adelaide, Australia), Kristy Kolc (Adelaide, Australia), Ingrid Scheffer (Melbourne, Australia), Lynette Sadleir (Wellington, New Zealand), Emma Palmer (Sydney, Australia) |
| PCGF2 |
Peter Turnpenny (Exeter, United Kingdom), Andrew Fry (Cardiff, United Kingdom) |
| PEPD |
Sarah Ossler (Middlefield, United States), Heng Wang (Middlefield, United States), Baozhong Xin (Middlefield, United States) |
| PERP recessive |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| PGAP1 |
Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
| PGM1 |
Eva Morava-Kozicz (Rochester), Silvia Radenkovic (Rochester, United States) |
| PHF5A |
Lex Dingemans (Nijmegen, Netherlands), Kerstin Kutsche (Hamburg, Germany), Frederike Harms (Hamburg, Germany), Bert de Vries (Nijmegen, Netherlands) |
| PHGDH |
Ranad Shaheen (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| PHIP |
Shahid ajmeri (AHMEDABAD, India), Alexander Hoischen (Nijmegen, Netherlands), Sandra Jansen (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
| PI4KA |
Agusti Rodriguez-Palmero (Barcelona, Spain), Aurora Pujol (Barcelona, Spain) |
| PIEZO2 |
Brunhilde Wirth (Cologne, Germany), Raoul Heller (Auckland, New Zealand), Mert Karakaya (Cologne, Germany), Andrea Delle Vedove (Cologne, Germany) |
| PIGA |
Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
| PIGB |
Coralie Michaud (Montreal, Canada), Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
| PIGC |
Coralie Michaud (Montreal, Canada), Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
| PIGF |
Coralie Michaud (Montreal, Canada), Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
| PIGG |
Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
| PIGH |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| PIGK |
Coralie Michaud (Montreal, Canada), Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
| PIGL |
Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
| PIGM |
Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
| PIGN |
Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
| PIGP |
Coralie Michaud (Montreal, Canada), Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
| PIGQ |
Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
| PIGS |
Coralie Michaud (Montreal, Canada), Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
| PIGT |
Farhad Abbasi (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| PIGV |
Aleksandra Jezela-Stanek (Warsaw, Poland), Philippe Campeau (Montréal, Canada) |
| PIGW |
Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
| PIGY |
Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
| PIK3CA |
Bill Dobyns (Seattle, United States), Ghayda Mirzaa (Seattle, United States) |
| PIK3R2 |
Bill Dobyns (Seattle, United States), Ghayda Mirzaa (Seattle, United States) |
| PLA2G6 |
Allison Gregory (Portland, United States), Susan Hayflick (Portland, United States), Alison Freed (Portland, United States) |
| PLOD3 |
Lisa Ewans (Sydney, Australia), Tony Roscioli (Kensington, Australia), David Sillence (Sydney, Australia), Frederico Forneris (Pavia, Italy) |
| POC1A |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| POC5 |
Anneke Vulto-van Silfhout (Nijmegen, Netherlands), Machteld Oud (Nijmegen, Netherlands) |
| POGZ |
Marjolein Willemsen (Nijmegen, Netherlands), Evan Eichler (Seattle, United States) |
| POLR2A |
Suzanne Lewis (British Columbia, Canada), Kristina Calli (British Columbia, Canada), Sydney Schulz (British Columbia, Canada) |
| POLR3GL |
Éliane Beauregard-Lacroix (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| PPM1D |
Cynthia Curry (Fresno, United States), Lennart Slagter (Nijmegen, Netherlands), Sandra Jansen (Nijmegen, Netherlands), Lisenka Vissers (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
| PPP1CB |
Regina Zambrano (New Orleans, United States), Michael Marble (Albuquerque, United States) |
| PPP2CA |
Lennart Slagter (Nijmegen, Netherlands), Sandra Jansen (Nijmegen, Netherlands), Lisenka Vissers (Nijmegen, Netherlands) |
| PPP3CA |
Saadet Mercimek-Andrews (Edmonton, Canada), John Pappas (New York, United States), Weimin Bi (Houston, United States) |
| PQBP1 | Hitoshi Okazawa (Tokyo, Japan) |
| PRDM12 | Geoffey Woods (Cambridge, United Kingdom) |
| PRDM16 |
Sabine Klaassen (Berlin, Germany), Jirko Kühnisch (Berlin, Germany) |
| PRICKLE1 |
Mario Mastrangelo (Rome, Italy), Vincenzo Leuzzi (Rome, Italy), Dario Esposito (Rome, Italy) |
| PRKAR1A |
Rachel Wurth (Maryland, United States), Fady Hannah-Shmouni (Maryland, United States), Fabio R. Faucz (Maryland, United States), Constantine A. Stratakis (Maryland, United States) |
| PRKAR1B |
Christian Schaaf (Houston, United States), Pilar Caro (Heidelberg, Germany) |
| PRMT7 |
Marcello Scala (Genoa, Italy), Reza Maroofian (London, United Kingdom), Elisa Calí (London, United Kingdom) |
| PRORP | William G. Newman (Manchester, United Kingdom) |
| PRR12 | Weimin Bi (Houston, United States) |
| PRUNE1 | Claudia Gonzaga-Jauregui (Tarrytown, United States) |
| PSMC3 |
Sébastien Küry (Nantes, France), Stéphane Bézieau (Nantes, France), Frédéric Ebstein (Nantes, France), Elke Krüger (Greifswald, Germany) |
| PSMD12 |
Pawel Stankiewicz (Houston, United States), Bertrand Isidor (Nantes, France), Sébastien Küry (Nantes, France) |
| PTCHD1 |
John Vincent (Toronto, Canada), Ayeshah Chaudhry (Toronto, Canada) |
| PTPN23 |
Jannette Mailo (Alberta, Canada), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| PUF60 | Hormos Dafsari (Cologne, Germany) |
| PUM1 |
Jimmy Lloyd Holder (Houston, United States), Vincenzo Alessandro Gennarino (New York, United States), Emma Palmer (Sydney, Australia) |
| PURA |
Dierk Niessing (Munich/Ulm, Germany), Margot Reijnders (Maastricht, Netherlands), Jennifer Gordon (Philadelphia, United States), Diana Baralle (Southhampton, United Kingdom) |
| PUS3 |
Ranad Shaheen (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| QRICH1 | Silke Redler (Düsseldorf, Germany) |
| RAB11A |
Philippe Campeau (Montréal, Canada), Maria Borroto (Montreal, Canada) |
| RAC3 |
Valentin Ruault (Montpellier, France), Tiong Yang Tan (Melbourne, Australia) |
| RAP1GDS1 |
Muhammad Umair (Riyadh, Saudi Arabia), Ahmed Alfares (Riyadh, Saudi Arabia), Majid Alfadhel (Riyadh, Saudi Arabia) |
| RBM10 |
John Carey (Salt Lake City, United States), Colleen M. Carlston (San Francisco, United States) |
| RBM28 |
Filippo Pinto e Vairo (Rochester, United States), Susan Baserga (New Haven, United States) |
| RECQL1 | Grant Stewart (Birmingham, United Kingdom) |
| RHOBTB2 |
Mitsuhiro Kato (Tokyo, Japan), Hirotomo Saitsu (Hamamatsu, Japan) |
| RIC1 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| RNASET2 |
Jutta Gärtner (Göttingen, Germany), Marco Henneke (Göttingen, Germany), Matthias Kettwig (Göttingen, Germany) |
| RNF113A | Anne Slavotinek (San Francisco, United States) |
| RNU4ATAC |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| ROR2 |
A Haseena Sait (Lucknow, India), Shubha R Phadke (Lucknow, India) |
| RORA |
Laurent Pasquier (Rennes, France), Erica Davis (Durham, United States), Michel Koenig (Montpellier, France), Gaëtan Lesca (Lyon, France), Sébastien Küry (Nantes, France) |
| RSPRY1 |
Maha A. Faden (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| RTTN |
Hanan E Shamseldin (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| RUSC2 | Ali Hassan Alwadei (Riyadh, Saudi Arabia) |
| SACS | Benoit Gentil (Montreal, Canada) |
| 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), Michael Hildebrand (Melbourne, Australia), Emma Palmer (Sydney, 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) |
| SERPINA1 | Aleksandra Jezela-Stanek (Warsaw, Poland) |
| SET | Servi JC Stevens (Maastricht, 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 |
Agusti Rodriguez-Palmero (Barcelona, Spain), Aurora Pujol (Barcelona, 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) |
| SLC25A22 | Florence Molinari (Marseille, France) |
| SLC45A1 |
Myriam Srour (Montreal, Canada), Sarah Alsubhi (Montreal, Canada) |
| SLC6A9 |
Irene Mademont-Soler (Girona, Spain), Dolors Casellas-Vidal (Girona, Spain) |
| SLF2 | Grant Stewart (Birmingham, United Kingdom) |
| SMAD3 |
Dorien Schepers (Antwerp, Belgium), Bart Loeys (Antwerp, Belgium) |
| SMARCA4 |
Gijs Santen (Leiden, Netherlands), Eline van der Sluijs (Leiden, Netherlands) |
| SMARCA5 |
Matthew Deardorff (Los Angeles, United States), Dong Li (Philadelphia, United States) |
| SMARCB1 |
Emma Clement (London, United Kingdom), Cristina Dias (London, United Kingdom) |
| SMARCC2 |
Vandana Shashi (Durham, United States), Keren Machol (Houston, United States), Philippe Campeau (Montréal, Canada) |
| SMARCD1 |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| SMARCE1 | Samantha A. Schrier Vergano (Norfolk, United States) |
| SMC5 | Grant Stewart (Birmingham, United Kingdom) |
| SMG8 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| SMG9 |
Ranad Shaheen (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| SMS |
Angela Peron (Salt Lake City, United States), Charles E. Schwartz (Greenwood, United States) |
| SNX14 |
A Haseena Sait (Lucknow, India), Shubha R Phadke (Lucknow, India) |
| 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) |
| SOX5 |
Christel Depienne (Essen, Germany), Alma Kuechler (Essen, Germany), Veronique Lefebvre (Philadelphia, United States) |
| SOX6 |
Cedric le Caignec (Toulouse, France), Veronique Lefebvre (Philadelphia, United States) |
| SPOP |
Maria Nabais Sá (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
| SPOP GoF |
Maria Nabais Sá (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
| SPOP LoF |
Lisenka Vissers (Nijmegen, Netherlands), Philip Jensik (Carbondale, United States), Maria Nabais Sá (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands), Anneke Vulto-van Silfhout (Nijmegen, Netherlands) |
| SPTAN1 |
Jun Tohyama (Niigata, Japan), Hirotomo Saitsu (Hamamatsu, Japan) |
| SRCAP | David Koolen (Nijmegen, Netherlands) |
| SRCAP FLHS |
Jane Hurst (London, United Kingdom), Lara Menzies (London, United Kingdom) |
| SRRM2 | Silvestre Cuinat (Nantes, France) |
| STAG2 | Sérgio D.J. Pena (Belo Horizonte, Brazil) |
| STT3A |
Daisy Rymen (Leuven, Belgium), Matthew Wilson (Leuven, Belgium) |
| 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 (Staten Island, New York, United States) |
| TAF6 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| TANC2 |
Alessandra Murgia (Padua, Italy), Elisa Bettella (Padua, Italy) |
| TANGO2 |
Kuntal Sen (Washington, DC, United States), Andrea L. Gropman (Washington, DC, United States) |
| TBC1D24 |
Sanjay Sisodiya (London, United Kingdom), Philippe Campeau (Montréal, 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) |
| TDP2 | Keith Caldecott (Brighton, United Kingdom) |
| TELO2 |
Claudia Ciaccio (Milan, Italy), Stefano D'Arrigo (Milan, Italy), Chiara Pantaleoni (Milan, Italy) |
| TGFB3 | Aline Verstraeten (Antwerp, Belgium) |
| THOC2 |
Michael Field (Waratah, Australia), Jozef Gecz (Adelaide, Australia), Jackie Boyle (Waratah, Australia), Raman Kumar (Adelaide, Australia), Emma Palmer (Sydney, Australia) |
| THOC6 |
Gabrielle Lemire (Ottowa, Canada), Valeria Capra (Genova, Italy) |
| TIAM1 |
Shenzhao Lu (Houston, United States), Wendy Chung (New York, United States), Hugo Bellen (Houston, United States) |
| TMCO1 |
Heng Wang (Middlefield, United States), Baozhong Xin (Middlefield, United States), Bea Torres-Fults (Middlefield, United States) |
| 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), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| TMEM94 |
Joshi Stephen (Maryland, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| TMTC3 | Andre Megarbane (Beirut, Lebanon) |
| TNIK |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| TOR1A | Homa Tajsharghi (Skövde, Sweden) |
| TPI1 | Ferenc Orosz (Budapest, Hungary) |
| TPP2 |
Isis Atallah (Lausanne, Switzerland), Andrea Superti-Furga (Lausanne, Switzerland) |
| TRAF7 | Roser Urreizti (Barcelona, Spain) |
| TRIO |
Konstantinos Varvagiannis (Athens, Greece), Lisenka Vissers (Nijmegen, Netherlands), Diana Baralle (Southhampton, United Kingdom), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
| TRIP12 |
Dagmar Wieczorek (Düsseldorf, Germany), Nuria Brämswig (Münster, Germany) |
| TRIP4 |
Ana Ferreiro (Paris, France), Isabelle Duband-Goulet (Paris, France), Rocío Nur Villar Quiles (Paris, France) |
| TRMT1 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| TRRAP |
Benjamin Cogné (Nantes, France), Coralie Michaud (Montreal, Canada), Sébastien Küry (Nantes, France), Philippe Campeau (Montréal, Canada) |
| TSEN15 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| TUBB2A |
Stefanie Brock (Brussels, Belgium), Anna Jansen (Antwerp, Belgium) |
| TXNL4A | William G. Newman (Manchester, United Kingdom) |
| UBR7 |
Éliane Beauregard-Lacroix (Montreal, Canada), Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| UFC1 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| UFM1 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| UGDH |
Bruno Reversade (Singapore), Saumya Shekhar Jamuar (Singapore) |
| UNC45A |
Laurence Faivre (Dijon, France), Caroline Racine (Dijon, France) |
| UNC80 |
Hanan E Shamseldin (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| UROC1 |
Rafael Artuch (Barcelona, Spain), Roser Urreizti (Barcelona, Spain) |
| USP7 |
Christian Schaaf (Houston, United States), Pilar Caro (Heidelberg, Germany) |
| VPS13B |
Sarah Ossler (Middlefield, United States), Heng Wang (Middlefield, United States), Baozhong Xin (Middlefield, United States) |
| VPS13D |
Coralie Michaud (Montreal, Canada), Inge Meijer (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
| WAC |
Konstantinos Varvagiannis (Athens, Greece), Lisenka Vissers (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
| WASF1 | Toshiyuki Yamamoto (Tokyo, Japan) |
| WDFY3 |
Diana Le Duc (Leipzig, Germany), Konstantinos Zarbalis (Sacramento, United States), Rami Jamra (Leipzig, Germany) |
| WDR26 |
Cara Skraban (Philadelphia, United States), Matthew Deardorff (Los Angeles, United States) |
| WDR35 | Joanna Walczak-Sztulpa (Poznan, Poland) |
| WDR45 |
Allison Gregory (Portland, United States), Susan Hayflick (Portland, United States) |
| WDR81 |
Ranad Shaheen (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States) |
| WWOX | Rami Aqeilan (Jerusalem, Israel) |
| YWHAG |
Michelle Demos (Vancouver BC, Canada), Malavika Hebbar (Vancouver BC, Canada), Shelin Adam (Vancouver BC, Canada) |
| YY1 |
Giuseppe Testa (Milan, Italy), Michele Gabriele (Milan, Italy), David Koolen (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
| ZBTB18 |
Sonja de Munnik (Nijmegen, Netherlands), Vyne van der Schoot (Rotterdam, Netherlands) |
| ZBTB7A |
Charlotte von der Lippe (Skien, Norway), Kristian Tveten (Skien, Norway) |
| ZDHHC9 |
Kate Baker (Cambridge, United Kingdom), Anna Kolesnik-Taylor (Cambridge, United Kingdom) |
| ZFHX4 |
Bert Callewaert (Ghent, Belgium), Sixto García-Miñaúr (Madrid, Spain), Sarah Vergult (Ghent, Belgium), Fernando Santos-Simarro (Madrid, Spain), María Palomares Bralo (Madrid, Spain) |
| 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 |
Abdallah F Elias (Montana, United States), Servi JC Stevens (Maastricht, Netherlands) |
| ZNF711 |
Frank Kooy (Antwerp, Belgium), Anke Van Dijck (Antwerp, Belgium) |
| ZSWIM6 |
Michael Field (Waratah, Australia), Jozef Gecz (Adelaide, Australia), Raman Kumar (Adelaide, Australia), Lucinda Murray (Sydney, Australia), Emma Palmer (Sydney, Australia) |