Gene | Moderators |
|---|---|
| ABAT | Melissa DiBacco (Boston), Michael Gibson (Spokane), Phillip Pearl (Boston) |
| ABCA2 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| ACER3 | Cungui Mao (New York) |
| ACTL6A | Mari Tokita (San Diego), Ronit Marom (Houston) |
| ACTL6B | Philippe Campeau (Montréal) |
| ACTL6B dominant | Philippe Campeau (Montréal) |
| ACTL6B recessive | Carl Ernst (Montreal), Philippe Campeau (Montréal) |
| ACY1 | Lil Klaas (Rheinbach), Jörn Oliver Sass (Rheinbach) |
| ACY3 | Lil Klaas (Rheinbach), Jörn Oliver Sass (Rheinbach) |
| ADAMTSL2 | Merlin Butler (Kansas City) |
| ADAMTSL2 autosomal dominant | Merlin Butler (Kansas City) |
| ADAMTSL2 autosomal recessive | Merlin Butler (Kansas City) |
| ADARB1 | Calder Hamill (Clayton), Tiong Yang Tan (Melbourne) |
| ADAT3 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| ADGRB3 | Corrado Romano (Troina), Marco Fichera (Catania) |
| ADGRG6 | Gina Ravenscroft (Perth) |
| ADGRL1 | Benoit Mazel (Dijon), Antonio Vitobello (Dijon) |
| ADK | Majid Alfadhel (Riyadh), Muhammad Umair (Riyadh) |
| ADNP | Evan Eichler (Seattle), Lusine Harutyunyan (Antwerpen), Claudio D'Incal (Antwerpen), Anke Van Dijck (Antwerp), Frank Kooy (Antwerp), Bert de Vries (Nijmegen) |
| AGK | Álvaro Hermida Ameijeiras (Santiago de Compostela), Sofia Barbosa-Gouveia (Santiago de Compostela) |
| AGMO | Wendy Chung (New York), Katrin Watschinger (Innsbruck) |
| AHDC1 | Vasudevan Pradeep (Leicester), Margje Sinnema (Maastricht), Sander Stegmann (Maastricht) |
| AIMP2 | Anju Shukla (Manipal), Kiranam Chatti (Hyderabad), Neerja Gupta (New Delhi) |
| AKT3 | Bill Dobyns (Seattle), Ghayda Mirzaa (Seattle) |
| ALKBH8 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| ALPK3 | Johanna C. Herkert (Groningen), Judith M.A. Verhagen (Rotterdam) |
| ALX1 | Arda Cetinkaya (Istanbul), Nurten Akarsu (Ankara) |
| AMOTL1 | Timothy C Cox (Kansas City), Alanna Strong (Philadelphia) |
| ANKH | Charlene Williams (Camden), Ernst Reichenberg (Farmington), Thomas Carpenter (New Haven), I-ping Chen (Farmington) |
| ANKLE2 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| ANKRD11 | Karen Low (Bristol), Rolph Pfundt (Nijmegen), Gholson Lyon (Staten Island, New York), Charlotte Ockeloen (Nijmegen) |
| ANKRD17 | Maya Chopra (Boston), Chris Gordon (Paris) |
| ANO10 | Kryproula Christodoulou (Nicosia), Christina Votsi (Nicosia), Ioannis Livanos (Nicosia) |
| ANTXR2 | Sheetal Sharda (Ahmedabad), Nitika Langeh (Ahmedabad) |
| AP1B1 | Mohnish Suri (Nottingham), Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| AP1S2 | Mario Mastrangelo (Rome), Giuliana Lentini (Rome), Vincenzo Leuzzi (Rome) |
| AP3B2 | Maxi Leona Wiese (Cologne), Hormos Dafsari (Cologne) |
| AP3D1 | Maxi Leona Wiese (Cologne), Hormos Dafsari (Cologne) |
| AP4B1 | Darius Ebrahimi-Fakhari (Boston) |
| AP4E1 | Darius Ebrahimi-Fakhari (Boston) |
| AP4M1 | Darius Ebrahimi-Fakhari (Boston) |
| AP4S1 | Darius Ebrahimi-Fakhari (Boston) |
| APOPT1 | Erika Fernandez-Vizarra (Cambridge), Massimo Zeviani (Cambridge) |
| ARCN1 | Kosuke Izumi (Philadelphia), Alyssa Ritter (Philadelphia) |
| ARF1 | Jean-Madeleine de Sainte Agathe (Paris) |
| ARFGEF1 | Antonio Vitobello (Dijon), Quentin Thomas (Dijon) |
| ARHGEF9 | Rochelle Hines (Las Vegas) |
| ARID1A | Gijs Santen (Leiden) |
| ARID1B | Gijs Santen (Leiden), Bert de Vries (Nijmegen), Lex Dingemans (Nijmegen) |
| ARID2 | Nuria Brämswig (Münster), Gijs Santen (Leiden) |
| ARL14EP | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Ranad Shaheen (Riyadh), Khadijah Bakur (Riyadh) |
| ARL3 | Laura J Powell (Newcastle Upon Tyne), John A Sayer (Newcastle Upon Tyne) |
| ARL6 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| ARMC5 | Rachel Wurth (Maryland), Fady Hannah-Shmouni (Maryland), Constantine A. Stratakis (Maryland), Fabio R. Faucz (Maryland) |
| ARMC9 | Ashwin Dalal (Hyderabad), Anjana Kar (Hyderabad), Shubha R Phadke (Lucknow) |
| ARV1 | Farhad Abbasi (Montreal), Philippe Campeau (Montréal) |
| ARX | Bill Dobyns (Seattle) |
| ASCC1 | Antonio Pizzuti (Rome), Laura Bernardini (Rome), Gioia Mastromoro (Rome), Maria Grazia Giuffrida (Rome) |
| ASNA1 | Judith M.A. Verhagen (Rotterdam), Ingrid M.B.H. van de Laar (Rotterdam) |
| ASPH | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Nisha Patel (Riyadh), Khadijah Bakur (Riyadh) |
| ASXL2 | Kelly Schoch (Durham), Vandana Shashi (Durham), Loren Pena (Cincinnati) |
| ASXL3 | Irene Valenzuela (Barcelona), Donna Martin (Ann Arbor), Stephanie Bielas (Ann Arbor) |
| ATIC | |
| ATN1 | Fowzan Alkuraya (Riyadh), Stefan Arold (Thuwal), Emma Palmer (Sydney) |
| ATOH1 | Zippora Brownstein (Tel Aviv), Karen B. Avraham (Tel Aviv) |
| ATP1A1 | Francesco Nicita (Rome) |
| ATP1A2 | A.V.E. Harder (Leiden), A.M.J.M. van den Maagdenberg (Leiden), M.J.V. Hoffer (Leiden) |
| ATP2B3 | Ginevra Zanni (Rome) |
| ATP6V0C | Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| ATP6V1B2 | Pu Dai (Beijing), Xi Lin (Atlanta), Yongyi Yuan (Beijing) |
| ATP8A2 | Mariana Santos (Porto), João Moura (Porto), Joana Damásio (Porto) |
| ATRX | Takahito Wada (Kawasaki) |
| ATXN2L | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| AUTS2 | Gea Beunders (Amsterdam), Erik Sistermans (Amsterdam) |
| B4GALT7 | Marzia Pollazzon (Reggio Emilia), Stefano Giuseppe Caraffi (Reggio Emilia), Andre Superti-Furga (Lausanne), Livia Garavelli (Reggio Emilia) |
| B9D2 | Shalini S Nayak (Manipal), Katta Mohan Girisha (Udupi) |
| BANF1 | Clea Bárcena Fernández (Oviedo), Carlos López-Otín (Madrid), José M. P. Freije (Oviedo) |
| BBS1 | Miriam Zacchia (Naples), Floriana Secondulfo (Naples) |
| BBS10 | Miriam Zacchia (Naples), Floriana Secondulfo (Naples) |
| BCAP31 | Sandra Whalen (Paris), Laurent Villard (Marseille) |
| BCL11A | David Viskochil (Salt Lake City), Angela Peron (Salt Lake City), Cristina Dias (London) |
| BGN | Bart Loeys (Antwerp), Josephina Meester (Antwerp) |
| BHLHE22 | Carolyn Le (San Francisco), Emanuela Argilli (San Francisco), Elliott H. Sherr (San Francisco) |
| BLOC1S5 | Benoit Arveiler (Bordeaux) |
| BMP2 | Tiong Yang Tan (Melbourne), Claudia Gonzaga-Jauregui (Tarrytown) |
| BPTF | Yaping Yang (Houston), Pawel Stankiewicz (Houston) |
| BRAT1 | Siddharth Srivastava (Boston), Sakkubai Naidu (Baltimore) |
| BRPF1 | Farhad Abbasi (Montreal), Philippe Campeau (Montréal) |
| BRWD3 | Michael Field (Waratah) |
| BSCL2 | Aurora Pujol (Barcelona), Gorka Fernández-Eulate (Paris), Adolfo Lopez de Munain (San Sebastian) |
| C12orf4 | Irma Järvelä (Helsinki) |
| C12orf57 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| C18orf32 | Smrithi Raghuram Salian (Montreal), Philippe Campeau (Montréal) |
| C2orf69 | Miriam Elbracht (Aachen), Florian Kraft (Aachen) |
| CA8 | Chris Richmond (Brisbane) |
| CACNA1A | A.V.E. Harder (Leiden), A.M.J.M. van den Maagdenberg (Leiden), M.J.V. Hoffer (Leiden) |
| CAMK2A | Sandra Mercier (Nantes), Geeske van Woerden (Rotterdam), Sébastien Küry (Nantes) |
| CAMK2B | Sandra Mercier (Nantes), Geeske van Woerden (Rotterdam), Sébastien Küry (Nantes) |
| CAMLG | Daisy Rymen (Leuven), Matthew Wilson (Leuven) |
| CAPRIN1 | Alfredo Brusco (Torino), Lisa Pavinato (Bellinzona) |
| CC2D1A | Minoo Rassoulzadegan (Nice), Elif Funda Sener (Kayseri) |
| CC2D2A | Muhammad Ismail Khan (Khyber Pakhtunkhwa), Musharraf Jelani (Khyber Pakhtunkhwa) |
| CCDC186 | Ingo Borggräfe (Munich), Melanie Brugger (Munich), Matias Wagner (Munich) |
| CCDC88A | Angela F Brady (Harrow), Geoffey Woods (Cambridge) |
| CCND2 | Bill Dobyns (Seattle), Ghayda Mirzaa (Seattle) |
| CD55 | Alina Kurolap (Tel Aviv), Hagit Baris Feldman (Tel Aviv) |
| CDH1 | Sylvie Manouvrier (Lille), Jamal Ghoumid (Lille) |
| CDH11 | |
| CDK10 | Lionel van Maldergem (Besançon), Juliette Piard (Besançon) |
| CDK13 | Lex Dingemans (Nijmegen) |
| CELF4 | Rita Barone (Catania) |
| CENPF | Isabel Filges (Basel) |
| CEP120 | Valentina Serpieri (Pavia), Susanne Roosing (Nijmegen), Enza Maria Valente (Pavia) |
| CEP135 | Muhammad Ikram Ullah (Sakaka), Muhammad Jawad Hassan (Islamabad) |
| CEP57 | María Palomares Bralo (Madrid), Fernando Santos-Simarro (Madrid), Marta Pacio Miguez (Madrid) |
| CEP78 | Pietro Farinelli (Copenhagen), Carlo Rivolta (Leicester), Konstantinos Nikopoulos (Lausanne) |
| CERT1 | Kentaro Hanada (Tokyo), Kenji Kurosawa (Kanagawa), Hiroaki Murakami (Gifu), Vincenzo Alessandro Gennarino (New York) |
| CHD2 | Evan Eichler (Seattle) |
| CHD3 | Philippe Campeau (Montréal), Erik van Heesbeen (Montreal) |
| CHD4 | Karin Weiss (Haifa) |
| CHD5 | Ilaria Parenti (Essen), Cyril Mignot (Paris), Christel Depienne (Essen) |
| CHD8 | Evan Eichler (Seattle), Kim Truijen (Nijmegen), Raphael Bernier (Seattle), Bert de Vries (Nijmegen), Lex Dingemans (Nijmegen) |
| CHKB | Brian Hon Yin Chung (Hong Kong), Sophelia Hoi Shan HS Chan (Hong Kong SAR), Ichizo Nishino (Tokyo) |
| CHMP3 | Eran Cohen-Barak (Afula), Stavit A. Shalev (Afula), Nada Danial-Farran (Afula) |
| CHR1Q21 | Evan Eichler (Seattle), Heather Mefford (Seattle) |
| CHRNG | Andres Nascimento (Barcelona), Daniel Natera de Benito (Barcelona) |
| CHST3 | Shubha R Phadke (Lucknow), Somya Srivastava (Lucknow) |
| CIC | Kim Truijen (Nijmegen), Huda Zoghbi (Houston), Mark Durham (Houston) |
| CIT | Sulman Basit (Madinah) |
| CLCN3 | Pankaj Agrawal (Miami), Tzofia Drori (Miami) |
| CLCN4 | Vera Kalscheuer (Berlin), Emma Palmer (Sydney) |
| CLDN11 | Korbinian M. Riedhammer (Munich), Sylvia Stockler (Vancouver), Simone Race (Vancouver) |
| CLN5 | Stephanie Efthymiou (London), Henry Houlden (London) |
| CLN8 | Adam Sebastian Hirschfeld (Poznan) |
| CLP1 | James R. Lupski (Houston), Ender Karaca (Birmingham) |
| CLPP | Leigh A.M. Demain (Manchester), William G. Newman (Manchester) |
| CLTC | David Koolen (Nijmegen) |
| CLTCL1 | Geoffey Woods (Cambridge) |
| CMIP | Frank Kooy (Antwerp), Matthias de Wachter (Antwerp), Matthijs van der Lei (Antwerp) |
| CNKSR2 | Jill Clayton-Smith (Manchester), Rebecca Sayer (Manchester) |
| CNNM2 | J.H.F. de Baaij (Nijmegen), J.G.J. Hoenderop (Nijmegen) |
| CNOT2 | Jean-Marc Good (Lausanne) |
| CNTNAP1 | Andre Megarbane (Beirut) |
| CNTNAP2 | Gianluca D'Onofrio (Genoa), Andrea Accogli (Montreal) |
| COG4 | Carlos R. Ferreira (Washington, DC) |
| COG6 | Alberto Berardi (Modena), Miriam Elbracht (Aachen), Florian Kraft (Aachen), Licia Lugli (Modena) |
| COG7 | Dulce Quelhas (Porto), Jaak Jaeken (Leuven) |
| COL27A1 | Claudia Gonzaga-Jauregui (Tarrytown) |
| COL4A3 | Judy Savige (Melbourne) |
| COL4A4 | Judy Savige (Melbourne) |
| COL4A5 | Judy Savige (Melbourne) |
| COPB1 | Diana Baralle (Southhampton), William Macken (Southampton) |
| COQ2 | Catarina M. Quinzii (New York), Eva Trevisson (Padova) |
| COQ4 | Marc Engelen (Amsterdam) |
| COQ9 | Halil Tuna Akar (Ankara), Asburce Olgac (Ankara) |
| COX7B | Alessia Indrieri (Naples), Brunella Franco (Naples) |
| CPE | Elisabeth Bosch (Erlangen), Georgia Vasileiou (Erlangen) |
| CPLANE1 | Masayuki Itoh (Tokyo), Norio Chihara (Kobe), Kento Matoba (Kobe) |
| CRADD | Bill Dobyns (Seattle), Nataliya Di Donato (Dresden) |
| CREBBP | Didier Lacombe (Bordeaux), Julien Van Gils (Bordeaux) |
| CRLS1 | Richard G Lee (Perth), Shanti Balasubramaniam (Sydney), Aleksandra Filipovska (Perth) |
| CSF1R | Long Guo (Xi'an), Jinhui Zhu (Xi'an) |
| CSF1R ALSP | Long Guo (Xi'an), Jinhui Zhu (Xi'an) |
| CSF1R BANDDOS | Long Guo (Xi'an), Jinhui Zhu (Xi'an) |
| CSNK1G1 | Nina B. Gold (Boston), Elizabeth Bhoj (Philadelphia) |
| CTCF | Emma Price (Bethesda) |
| CtIP | Muhammad Ikram Ullah (Sakaka), Muhammad Jawad Hassan (Islamabad) |
| CTNNB1 | Stephanie Ho (Hong Kong), Brian Hon Yin Chung (Hong Kong), Ivan Fai-man Lo (Hong Kong), Mandy HY Tsang (Hong Kong), Ho-ming Luk (Hong Kong) |
| CTNND1 | Sylvie Manouvrier (Lille), Jamal Ghoumid (Lille) |
| CTU2 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| CUL4B | Emanuele Bartolini (Pisa) |
| CWC27 | Ruifang Sui (Peking), Rui Chen (Houston) |
| CYFIP2 | Anais Begemann (Schlieren), Anita Rauch (Schlieren-Zurich) |
| CYP27A1 | Adam Sebastian Hirschfeld (Poznan), Magdalena Badura-Stronka (Poznan) |
| DALRD3 | Dragony Fu (Rochester) |
| DARS2 | Marc Engelen (Amsterdam) |
| DCAF17 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| DCC | Saumya Shekhar Jamuar, Ashley Pamela Lesle Marsh (Melbourne) |
| DCT | Sophie Javerzat (Bordeaux), Benoit Arveiler (Bordeaux) |
| DDB1 | Sue White (Melbourne) |
| DDX3X | Lex Dingemans (Nijmegen) |
| DDX59 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Hanan E Shamseldin (Riyadh), Khadijah Bakur (Riyadh) |
| DEAF1 | Lisenka Vissers (Nijmegen), Maria Nabais Sá (Nijmegen), Philip Jensik (Carbondale), Bert de Vries (Nijmegen), Lex Dingemans (Nijmegen), Anneke Vulto-van Silfhout (Nijmegen) |
| DEAF1 autosomal dominant | Lisenka Vissers (Nijmegen), Maria Nabais Sá (Nijmegen), Philip Jensik (Carbondale), Bert de Vries (Nijmegen), Lex Dingemans (Nijmegen), Anneke Vulto-van Silfhout (Nijmegen) |
| DEAF1 autosomal recessive | Lisenka Vissers (Nijmegen), Maria Nabais Sá (Nijmegen), Philip Jensik (Carbondale), Bert de Vries (Nijmegen), Lex Dingemans (Nijmegen), Anneke Vulto-van Silfhout (Nijmegen) |
| DEGS1 | Agusti Rodriguez-Palmero (Barcelona), Aurora Pujol (Barcelona) |
| Deletion 22q11 | Lex Dingemans (Nijmegen) |
| DENND5A | Emily Banks (Montreal), Peter McPherson (Montreal) |
| DGKE | Hadel Alsubaie (Toronto), Mathieu Lemaire (Toronto) |
| DHX30 | Davor Lessel (Hamburg) |
| DIS3L2 | Eamonn R Maher (Cambridge) |
| DLD | László Tretter (Budapest), Eszter Szabó (Budapest), Attila Ambrus (Budapest) |
| DLL1 | Majid Alfadhel (Riyadh), Muhammad Umair (Riyadh) |
| DNAJC19 | Steven C. Greenway (Calgary), Aneal Khan (Calgary) |
| DNM1L | Ann Saada (Jerusalem), Gabriella Horvath (Vancouver) |
| DNMT3A | Kate Tatton-Brown (London) |
| DNMT3A gain of function | Lex Dingemans (Nijmegen) |
| DOCK6 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Ranad Shaheen (Riyadh), Khadijah Bakur (Riyadh) |
| DOCK7 | Dilşad Türkdoğan (Istanbul) |
| DPH1 | Ivan Fai-man Lo (Hong Kong), Ho-ming Luk (Hong Kong), Shirley Sze-Wing Cheng (Hong Kong) |
| DPM2 | Silvia Radenkovic (Rochester), Eva Morava-Kozicz (Rochester) |
| DPYSL5 | Marie-Line Jacquemont (Tours), Marie-Laure Vuillaume-Winter (Tours), Solène Remize (Tours), Frédéric Laumonnier (Tours) |
| DUX4 | Adam Sebastian Hirschfeld (Poznan) |
| DVL1 | Shubha R Phadke (Lucknow), A Haseena Sait (Lucknow) |
| DVL3 | Shubha R Phadke (Lucknow), Somya Srivastava (Lucknow) |
| DYRK1A | Evan Eichler (Seattle), Bregje van Bon (Nijmegen) |
| EARS2 | Álvaro Hermida Ameijeiras (Santiago de Compostela), Sofia Barbosa-Gouveia (Santiago de Compostela) |
| EBF3 | Michael F. Wangler (Houston), Hsiao-Tuan Chao (Houston) |
| EFNB1 | Christian Peña-Padilla (Guadalajara), Jorge Román Corona Rivera (Guadalajara), Rocío Carolina Cortés-Pastranaa (Guadalajara) |
| EHMT1 | Lex Dingemans (Nijmegen) |
| EHMT2 | Laura Machado Lara Carvalho (São Paulo), Maria J. Barrero (Madrid), Lenka Noskova (Prague), Ana Cristina Victorino Krepischi (São Paulo), Beatriz Cristina de Oliveira (São Paulo) |
| EIF2AK1 | Joshi Stephen (Maryland), Vanesa Lerma (Houston), Hsiao-Tuan Chao (Houston) |
| EIF2AK2 | Joshi Stephen (Maryland), Vanesa Lerma (Houston), Hsiao-Tuan Chao (Houston) |
| EIF2S3 | An Ngoc Dang Do (Bethesda), Martina Skopkova (Bratislava) |
| EIF4A3 | Roseli Maria Zechi-Ceide (Bauru), Maria Rita Passos-Bueno (São Paulo) |
| ELMO2 | Arda Cetinkaya (Istanbul), Nurten Akarsu (Ankara) |
| ELOVL4 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| ELOVL5 | Alfredo Brusco (Torino), Barbara Borroni (Brescia) |
| EMC10 | Majid Alfadhel (Riyadh), Muhammad Umair (Riyadh), Ahmed Alfares (Riyadh) |
| EML1 | Maarten Lequin (Utrecht), Renske Oegema (Utrecht) |
| ENPP1 | Carlos R. Ferreira (Washington, DC) |
| EOGT | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| EP300 | Didier Lacombe (Bordeaux), Julien Van Gils (Bordeaux) |
| ERAL1 | Leigh A.M. Demain (Manchester), William G. Newman (Manchester) |
| ERI1 | Maria Carla Borroto (Montreal), Philippe Campeau (Montréal) |
| ERI1 Guo-Campeau type | Maria Carla Borroto (Montreal), Philippe Campeau (Montréal) |
| ERI1 Hoxha-Aliu syndrome | Maria Carla Borroto (Montreal), Philippe Campeau (Montréal) |
| ESAM | Mauro Lecca (Pavia), Edoardo Errichiello (Pavia) |
| ETHE1 | Ivano Di Meo (Milan), Costanza Lamperti (Milan), Valeria Tiranti (Milan) |
| EXOC6B | Gandham SriLakshmi Bhavani (Manipal), Katta Mohan Girisha (Udupi), Swati Singh (Manipal) |
| EXOSC3 | Weiyi Mu (Baltimore), Kristin Baranano (Baltimore) |
| EXTL3 | Taco Kuijpers (Amsterdam), Machteld Oud (Nijmegen) |
| EZH2 | Kate Tatton-Brown (London) |
| FAM111B | Sandra Mercier (Nantes), Sébastien Küry (Nantes) |
| FAM149B1 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| FBRSL1 | Annette Borchers (Marburg), Silke Pauli (Göttingen) |
| FBXL4 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| FBXO11 | Lisenka Vissers (Nijmegen), Sandra Jansen (Nijmegen), Bert de Vries (Nijmegen) |
| FBXW7 | Calder Hamill (Clayton), Eleanor Ludington (Melbourne), Tiong Yang Tan (Melbourne) |
| FEM1C | Wojciech Pokrzywa (Warsaw), Natalia Szulc (Warsaw) |
| FGD1 | Annick Toutain (Tours), Marie-Laure Vuillaume-Winter (Tours), Nathalie Ronce (Tours) |
| FGF14 | Matt C Danzi (Miami), David Pellerin (Montreal), Bernard Brais (Montreal), Stephan Zuchner (Miami), Pablo Iruzubieta (San Sebastian) |
| FIG4 | Éliane Beauregard-Lacroix (Montreal), Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| FLCN | Aleksandra Jezela-Stanek (Warsaw), Elżbieta Radzikowska |
| FN1 | Jade England (Montreal), Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| FN1 GFND2 | Jade England (Montreal), Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| FN1-SMDCF | Jade England (Montreal), Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| FOXG1 | Francois Bolduc (Edmonton) |
| FOXP1 | Saskia Koene (Nijmegen), Bert Callewaert (Ghent) |
| FOXP2 | Simon Fisher (Nijmegen), Angela Morgan (Melbourne) |
| FOXP3 | Raymond J Louie (Greenwood), Queenie K-G Tan (Durham) |
| FOXRED1 | Álvaro Hermida Ameijeiras (Santiago de Compostela), Sofia Barbosa-Gouveia (Santiago de Compostela) |
| FRDM5 | Yuwei Dai (Changsha), Hugo Bellen (Houston), Shenzhao Lu (Houston) |
| FRMD5 | Yuwei Dai (Changsha), Hugo Bellen (Houston), Shenzhao Lu (Houston) |
| FRMPD4 | Philippe Campeau (Montréal), Meagan Collins (Montreal) |
| GABBR2 | Yuri Zarate (Little Rock (AR)), Debopam Samanta (Little Rock) |
| GAD1 | Sarah Weckhuysen (Antwerp), Homa Tajsharghi (Skövde) |
| GAD2 | Frank Kooy (Antwerp), Matthias de Wachter (Antwerp), Matthijs van der Lei (Antwerp) |
| GATA3 | Amin J. Barakat (Washington, DC), Sajel Lala Kana (Miami) |
| GATAD2A | Tyler Mark Pierson (Los Angeles) |
| GATAD2B | Tyler Mark Pierson (Los Angeles) |
| GDF6 | Helge Martens (Hannover), Ruthild G. Weber (Hannover) |
| GEMIN5 | Deepa Rajan (Pittsburgh), Udai Pandey (Pittsburgh) |
| GINS3 | Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| GJC2 | Jutta Gärtner (Göttingen), Steffi Dreha-Kulaczewski (Göttingen), Simone Schröder (Göttingen) |
| GLI2 | Alinoë Lavillaureix (Rennes), Sylvie Odent (Rennes), Christèle Dubourg (Rennes) |
| GLRA2 | Michael F. Wangler (Houston), Ronit Marom (Houston) |
| GLYCTK | Jörn Oliver Sass (Rheinbach) |
| GM2A | Jayesh Sheth (Ahmedabad), Sheela Nampoothiri (Kochin), Chaitnya Datar (Pune), Aadhira Nair (Ahmedabad) |
| GMNN | Ernie Bongers (Nijmegen) |
| GMPPA | Christian A. Hübner (Jena) |
| GNAI1 | Marketa Wayhelova (Prague), Petr Kuglik (Brno) |
| GNB1 | Anya Revah-Politi (New York), Kwame Anyane-Yeboa (New York) |
| GNPNAT1 | Noor ul Ain (Islamabad) |
| GPAA1 | Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| GPSM2 | Mustafa Tekin (Miami), Carson Smith (Miami) |
| GPT2 | Eric M. Morrow (Providence), Brian C. Kavanaugh (Providence) |
| GRIA1/GRIA2/GRIA3/GRIA4 | Allan Bayat (Dianalund) |
| GRIN1 | Ilona Krey (Leipzig), Johannes Lemke (Leipzig) |
| GRIN2A | Ilona Krey (Leipzig), Johannes Lemke (Leipzig) |
| GRIN2B | Ilona Krey (Leipzig), Johannes Lemke (Leipzig) |
| GRIN2D | Ilona Krey (Leipzig), Johannes Lemke (Leipzig) |
| GTPBP2 | Elinaz Akbariazar (Urmia), Isa Abdi Rad (Urmia) |
| GUSB | Roberto Giugliani (Porto Alegre), Bibiana Mello de Oliveira (Porto Alegre), Tamires Silva Alves (Porto Alegre) |
| GZF1 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Nisha Patel (Riyadh), Khadijah Bakur (Riyadh) |
| H1-4 | Yong-hui Jiang (New Haven) |
| HACE1 | Josef M. Penninger (Braunschweig), Hannah K. Mayr (Vienna) |
| HADHB | Benoit J Gentil (Montreal), Rami Massie (Montreal) |
| HARS2 | Leigh A.M. Demain (Manchester), William G. Newman (Manchester) |
| HCN1 | Carla Marini (Ancona), Christel Depienne (Essen) |
| HEATR5B | Martin Breuss (Aurora) |
| HERC1 | Aneek Das Bhowmik (Hyderabad), Shagun Aggarwal (Hyderabad), Ashwin Dalal (Hyderabad) |
| HEY2 | Inge Mathijssen (Amsterdam), Eva van Walree (Amsterdam) |
| HHAT | Katta Mohan Girisha (Udupi), Shruti Pande (Udupi) |
| HID1 | Axel Weber (Marburg) |
| HIST1H1E | Kate Tatton-Brown (London) |
| HIVEP2 | Siddharth Srivastava (Boston), Sakkubai Naidu (Baltimore) |
| HNF1B | J.H.F. de Baaij (Nijmegen), J.G.J. Hoenderop (Nijmegen) |
| HNMT | Jos I.M. Egger (Nijmegen), Willem M.A. Verhoeven (Rotterdam) |
| HNRNPK | Petra Zwijnenburg (Amsterdam) |
| HNRNPU | Meena Balasubramanian (Sheffield), Maddie Gillentine (Seattle) |
| HOXA1 | Prince Jacob (Mysuru), SJ Patil (Bengaluru) |
| HPSE2 | William G. Newman (Manchester) |
| HS6ST2 | Giulia Cagnoli (Milan), Donatella Milani (Milan), Laura Fontana (Milan), Leda Paganini (Cremona), Monica Miozzo (Milan) |
| HSPD1 | Peter Bross (Aarhus) |
| IFT27 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| IGSF1 | Nitash Zwaveling-Soonawala (Amsterdam), Paul van Trotsenburg (Amsterdam) |
| IKBKG/NEMO | Francesca Fusco (Naples), Matilde Valeria Ursini (Naples) |
| IL1RAPL1 | Carlo Sala (Milano) |
| INTS1 | Anne Slavotinek (San Francisco) |
| IPO8 | Bart Loeys (Antwerp), Aline Verstraeten (Antwerp) |
| IQSEC2 | Jackie Boyle (Waratah), Cheryl Shoubridge (Adelaide), Emma Palmer (Sydney), Jessica Radley (London), Tracy Dudding-Byth (Waratah) |
| IREB2 | David Amor (Melbourne) |
| IRF2BPL | Hugo Bellen (Houston), Paul C. Marcogliese (Houston), Vandana Shashi (Durham), Loren Pena (Cincinnati), Becky Spillmann (Durham) |
| IRS4 | Nitash Zwaveling-Soonawala (Amsterdam), Paul van Trotsenburg (Amsterdam) |
| ISCA2 | Namik Kaya (Riyadh), Maysoon Alsagob (Riyadh), Zuhair AlHassnan (Riyadh), Rawan Almass (Riyadh), Dilek Colak (Riyadh), Mazhor S. Aldosary (Riyadh) |
| IVD | Jerry Vockley (Pittsburgh) |
| JAG1 | Nancy Spinner (Philadelphia), Melissa Gilbert (Philadelphia) |
| JARID2 | Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| KANSL1 | Evan Eichler (Seattle), Bert de Vries (Nijmegen), David Koolen (Nijmegen), Lex Dingemans (Nijmegen) |
| KAT5 | Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| KAT6B | Philippe Campeau (Montréal), Gabrielle Lemire (Ottowa) |
| KAT8 | Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| KCNA1 | Agusti Rodriguez-Palmero (Barcelona), Aurora Pujol (Barcelona) |
| KCNA2 | Steffen Syrbe (Heidelberg), Johannes Lemke (Leipzig), Holger Lerche (Tübingen) |
| KCNA4 | Albandary AlBakheet (Riyadh), Namik Kaya (Riyadh), Maysoon Alsagob (Riyadh), Rawan Almass (Riyadh), Mohamed Al-Owain (Riyadh), Dilek Colak (Riyadh) |
| KCNB1 | Rima Nabbout (Paris) |
| KCNB2 | Philippe Campeau (Montréal), Shreyas Bhat (Montréal), Rikard Blunck (Montréal) |
| KCNC1 | Joohyun Park (Tübingen), Tobias B. Haack (Tübingen), Holger Lerche (Tübingen) |
| KCNC2 | Stefan Wolking (Aachen), Yvonne Weber (Aachen) |
| KCNH1 | Michael Terrence Gabbett (Brisbane) |
| KCNK9 | John M. Graham Jr. (Los Angeles), Matthew Deardorff (Los Angeles), Emma L. Veale (Chatham Maritime), Margot A. Cousin (Rochester) |
| KCNMA1 | Andrea Meredith (Baltimore) |
| KCNN2 | Fanny Mochel (Paris), Christel Depienne (Essen) |
| KCNN3 | Markéta Havlovicová (Prague), Lukáš Ryba (Prague), Martin Schwarz (Prague) |
| KCNQ2 | Sarah Weckhuysen (Antwerp), Maurizio Taglialatela (Naples) |
| KCNQ3 | Sarah Weckhuysen (Antwerp), Maurizio Taglialatela (Naples) |
| KCNT2 | Rebecca Macintosh (Sydney), Emma Palmer (Sydney), Arin Bhattacharjee (Buffalo) |
| KDELR2 | Alessandra Maugeri (Amsterdam), Dimitra Micha (Amsterdam), Marelise Eekhoff (Amsterdam), Mariet Elting (Amsterdam) |
| KDM2B | Renske Oegema (Utrecht), Richard van Jaarsveld (Utrecht) |
| KDM3B | Lex Dingemans (Nijmegen) |
| KDM5A | Maria Chahrour (Dallas) |
| KDM5B | Maria Carla Borroto (Montreal), Philippe Campeau (Montréal) |
| KDM5B dominant | Maria Carla Borroto (Montreal), Philippe Campeau (Montréal) |
| KDM5B recessive | Maria Carla Borroto (Montreal), Philippe Campeau (Montréal) |
| KIAA1109 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| KIAA1217 | Phillip F. Giampietro (Chicago), Nara Sobreira (Baltimore) |
| KICS2 | Rebecca Buchert (Tübingen), Tobias B. Haack (Tübingen) |
| KIF16B | Majid Alfadhel (Riyadh), Muhammad Umair (Riyadh), Ahmed Alfares (Riyadh) |
| KIF26A | Fowzan Alkuraya (Riyadh), Mo Almannai (Riyadh) |
| KIF4A | Isabel Filges (Basel) |
| KIF5A | Mohammed Faruq (New Delhi) |
| KIFBP | Hormos Dafsari (Cologne), Birk Möller (Cologne) |
| KLHL15 | Helen Stewart (Oxford) |
| KLHL24 | Cristina Has (Freiburg) |
| KMT2B | Manju Kurian (London), Kathleen Gorman (London) |
| KMT2E | Emily Groopman (Washington DC), Lynn Pais (Boston), Anne O'Donnell Luria (Boston) |
| LAMA5 | Filomena Napolitano (Naples), Giovanni Iolascon (Naples), Simone Sampaolo (Naples), Marina Melone (Naples), Chiara Terracciano (Naples), Teresa Esposito (Naples) |
| LAMB1 Autosomal Dominant | Hélène Morel (Paris), Dominique Herve (Paris) |
| LAMB2 | Judy Savige (Melbourne) |
| LAMC3 | Pasquale Striano (Genoa), Giovanni Falcicchio (Bari), Lorenzo Perilli (Genoa) |
| LAMP2 | Matthew RG Taylor (Aurora) |
| LARP7 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| LARS2 | Leigh A.M. Demain (Manchester), William G. Newman (Manchester) |
| LHX2 | Christiane Zweier (Bern), Anne Gregor (Bern) |
| LIFR | Fernando Santos-Simarro (Madrid), Sofía Maritza Siccha Arancibia (Barcelona) |
| LINS1 | Jayesh Sheth (Ahmedabad), Frenny Sheth (Ahmedabad), Harsh Sheth (Ahmedabad), Aadhira Nair (Ahmedabad) |
| LIS1 | Elena Parrini (Florence), Renzo Guerrini (Florence) |
| LMAN2L | Hazrat Ali Khan (Quetta), Rafiullah Rafiullah (Riyadh) |
| LMNB1 | Hilde Van Esch (Leuven), Rich Steet (Greenwood) |
| LMNB2 | Michael Hildebrand (Melbourne), Samuel Berkovic (Melbourne) |
| LRIG2 | William G. Newman (Manchester) |
| LRP2 | Barbara R. Pober (Boston), Mauro Longoni (Boston) |
| LRPAP1 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| LRPPRC | Muhammad Imran Naseer (Jeddah) |
| LSS | Thomas Besnard (Nantes), Bertrand Isidor (Nantes) |
| LYRM7 | Hind Alsharhan (Kuwait) |
| LZTR1 | Miriam J Smith (Manchester), Gareth Evans (Manchester) |
| MAGEL2 | Megan Rech (Houston), Christian Schaaf (Houston), Michael Fountain (Houston) |
| MAN1B1 | Halil Tuna Akar (Ankara), Asburce Olgac (Ankara), Sevil Dorum (Bursa) |
| MAP4K4 | Jihoon G. Yoon (Seoul), Jung Woo Yu (Seoul) |
| MASP1 | Sule Altiner (Ankara), Ceren Damla Durmaz (Ankara) |
| MBTPS2 | Hakon Hakonarson (Philadelphia), Alanna Strong (Philadelphia) |
| MCPH1 | Muhammad Ikram Ullah (Sakaka), Muhammad Jawad Hassan (Islamabad) |
| MDGA2 | Jaewon Ko (Daegu), Heba Morsy (London) |
| MDH1 | Judith Jans (Utrecht) |
| MDH2 | Judith Jans (Utrecht) |
| MECP2 | Pinar Topaloglu (Istanbul) |
| MECP2 duplication | Hilde Van Esch (Leuven) |
| MED12 | Mike Friez (Greenwood), Michael Lyons (North Charleston) |
| MED13 | Catia Mio (Udine), Flavio Faletra (Udine) |
| MED13L | Anita Rauch (Schlieren-Zurich), Reza Asadollahi (London) |
| MEF2C | Sofia Douzgou (Manchester), Florence Riccardi (Marseille) |
| MEIS2 | Andrea Gangfuß (Essen), Dorothea Schulte (Frankfurt), Maria J. Guillen Sacoto (Gaithersburg) |
| MEOX1 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| METTL23 | Mo Almannai (Riyadh) |
| MFF | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Hanan E Shamseldin (Riyadh), Khadijah Bakur (Riyadh) |
| michel2017 | Shahid I ajmeri (AHMEDABAD) |
| MMUT | Jean-François Benoist (Paris) |
| MN1 | Brian Hon Yin Chung (Hong Kong), Chris Gordon (Paris), Christopher Mak (Hong Kong) |
| MOGS | Silvia Radenkovic (Rochester), Eva Morava-Kozicz (Rochester) |
| MORC2 | Maria J. Guillen Sacoto (Gaithersburg) |
| MPDZ | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Ranad Shaheen (Riyadh), Khadijah Bakur (Riyadh) |
| MSL2 | Maria Carla Borroto (Montreal), Philippe Campeau (Montréal) |
| MSL3 | Theresa Brunet (Munich), Matias Wagner (Munich) |
| MTOR | Bill Dobyns (Seattle), Ghayda Mirzaa (Seattle) |
| MYCBP2 | Lama AlAbdi (Riyadh) |
| MYH10 | Benjamin A Raby (Boston), Alexander M. Holtz (Boston), Caleb Bupp (Grand Rapids) |
| MYH2 | Homa Tajsharghi (Skövde) |
| MYH3 | Anna Hakonen (Helsinki) |
| MYH3 autosomal dominant | Anna Hakonen (Helsinki) |
| MYH3 autosomal recessive | Anna Hakonen (Helsinki) |
| MYO18B | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| MYOD1 | Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| MYT1L | Björn Menten (Gent), Alisdair McNeill (Sheffield), David Koolen (Nijmegen) |
| NAA10 | Gholson Lyon (Staten Island, New York) |
| NAA15 | Gholson Lyon (Staten Island, New York) |
| NAA20 | Gianluca D'Onofrio (Genoa), Andrea Accogli (Montreal) |
| NACC1 | Kelly Schoch (Durham), Vandana Shashi (Durham), Michael Wangler (Houston) |
| NARS1 | Stephanie Efthymiou (London), Henry Houlden (London) |
| NAXD | Carole Linster (Parkville), John Christodoulou (Melbourne), Nicole van Bergen (Parkville) |
| NAXE | Carole Linster (Parkville), John Christodoulou (Melbourne), Nicole van Bergen (Parkville) |
| NCOR2 | Philippe Campeau (Montréal) |
| NDUFA6 | Robert W Taylor (Newcastle upon Tyne), Robert McFarland (Newcastle upon Tyne), Charlotte L Alston (Newcastle upon Tyne) |
| NDUFAF8 | Robert W Taylor (Newcastle upon Tyne), Robert McFarland (Newcastle upon Tyne), Charlotte L Alston (Newcastle upon Tyne), David J. Pagliarini (St Louis) |
| NDUFB11 | Alessia Indrieri (Naples), Brunella Franco (Naples) |
| NDUFS6 | Cécile Rouzier (Nice), Annabelle Chaussenot (Nice) |
| NECAP1 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| NEPRO | Katta Mohan Girisha (Udupi), Dhanya Lakshmi Narayan (Manipal) |
| NEU1 | I-Chun Lee (Taichung), Janina Gburek-Augustat (Leipzig) |
| NEUROG1 | Ketan Patel (Ahmedabad), Deepika Jain (Ahmedabad), Jayesh Sheth (Ahmedabad), Jhanvi Shah (Ahmedabad), Frenny Sheth (Ahmedabad), Harsh Sheth (Ahmedabad), Aadhira Nair (Ahmedabad) |
| NEXMIF | Trine Bjørg Hammer (Dianalund), Rikke S. Møller (Dianalund), Ingrid Scheffer (Melbourne), Hannah Stamberger (Antwerp) |
| NF2 | Miriam J Smith (Manchester), Gareth Evans (Manchester) |
| NFASC | Stephanie Efthymiou (London), Henry Houlden (London) |
| NFIA | Himanshu Goel (Newcastle) |
| NFIB | Himanshu Goel (Newcastle) |
| NFIX | Shubha R Phadke (Lucknow), A Haseena Sait (Lucknow) |
| NFU1 | Frederic Tort (Barcelona), Jaume Campistol (Barcelona), Antonia Ribes (Barcelona), Judit García-Villoria (Barcelona), Mireia del Toro (Barcelona), Roland Lill (Marburg), Angels García-Cazorla (Barcelona) |
| NGF | Geoffey Woods (Cambridge) |
| NKAP | Kosuke Izumi (Philadelphia), Alyssa Ritter (Philadelphia) |
| NKX6-2 | Fowzan Alkuraya (Riyadh), Viorica Chelban (London) |
| NPR2 | Mohammed Faruq (New Delhi) |
| NPTN | Rodrigo Herrera-Molina (Washington), Dirk Montag (Magdeburg), Konrad Platzer (Leipzig) |
| NR2F1 | Christian Schaaf (Houston), Danielle Bosch (Nijmegen) |
| NR5A1 | Elfride De Baere (Ghent), Dorien Baetens (Ghent), Martine Cools (Ghent) |
| NRCAM | Alina Kurolap (Tel Aviv), Hagit Baris Feldman (Tel Aviv) |
| NRROS | John Christodoulou (Melbourne), Sue White (Melbourne) |
| NSD1 | Kate Tatton-Brown (London) |
| NSRP1 | Daniel Calame (Houston), James R. Lupski (Houston) |
| NT5C2 | Muhammad Imran Naseer (Jeddah) |
| NTRK1 | Geoffey Woods (Cambridge) |
| NUBPL | Virginia Kimonis (Irvine, CA), Birgitt Schuele (Stanford, CA), Eli Hatchwell (Oxfordshire), Peggy S. Eis (New York) |
| OCLN | Maha S. Zaki (Cairo), Mohamed G. Ayad (Cairo) |
| ODC1 | André S. Bachmann (Grand Rapids), Caleb Bupp (Grand Rapids) |
| OFD1 | Brunella Franco (Naples) |
| OTUD6B | |
| OTX2 | Julie Plaisancie (Toulouse), Nicolas Chassaing (Toulouse) |
| OXR1 | Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| P4HTM | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Elisa Rahikkala (Oulu), Khadijah Bakur (Riyadh) |
| PACS1 | Han Brunner (Nijmegen), Janneke Schuurs-Hoeijmakers (Nijmegen) |
| PANK2 | Susan Hayflick (Portland), Allison Gregory (Portland), Alison Freed (Portland) |
| PAX1 | SJ Patil (Bengaluru) |
| PAX7 | Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| PCDH12 | Francesca Mattioli (Lausanne) |
| PCDH19 | Lynette Sadleir (Wellington), Ingrid Scheffer (Melbourne), Kristy Kolc (Adelaide), Jozef Gecz (Adelaide), Emma Palmer (Sydney) |
| PCGF2 | Peter Turnpenny (Exeter), Andrew Fry (Cardiff) |
| PCYT2 | Agusti Rodriguez-Palmero (Barcelona), Aurora Pujol (Barcelona) |
| PEDS1 | Katrin Watschinger (Innsbruck) |
| PEPD | Baozhong Xin (Middlefield), Sarah Ossler (Middlefield), Heng Wang (Middlefield) |
| PERP recessive | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| PGAP1 | Yoshiko Murakami (Osaka), Allan Bayat (Dianalund), Philippe Campeau (Montréal), Taroh Kinoshita (Osaka), Peter Krawitz (Bonn) |
| PGAP2 | Yoshiko Murakami (Osaka), Taroh Kinoshita (Osaka) |
| PGAP3 | Yoshiko Murakami (Osaka), Taroh Kinoshita (Osaka) |
| PGM1 | Silvia Radenkovic (Rochester), Eva Morava-Kozicz (Rochester) |
| PHF5A | Bert de Vries (Nijmegen), Frederike L. Harms (Hamburg), Kerstin Kutsche (Hamburg), Lex Dingemans (Nijmegen) |
| PHGDH | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Ranad Shaheen (Riyadh), Khadijah Bakur (Riyadh) |
| PHIP | Bert de Vries (Nijmegen), Alexander Hoischen (Nijmegen), Shahid I ajmeri (AHMEDABAD), Lex Dingemans (Nijmegen) |
| PI4KA | Agusti Rodriguez-Palmero (Barcelona), Aurora Pujol (Barcelona) |
| PIEZO2 | Andrea Delle Vedove (Cologne), Brunhilde Wirth (Cologne), Mert Karakaya (Cologne), Raoul Heller (Auckland) |
| PIGA | Yoshiko Murakami (Osaka), Allan Bayat (Dianalund), Philippe Campeau (Montréal), Taroh Kinoshita (Osaka), Peter Krawitz (Bonn) |
| PIGB | Yoshiko Murakami (Osaka), Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| PIGC | Yoshiko Murakami (Osaka), Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| PIGF | Yoshiko Murakami (Osaka), Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| PIGG | Yoshiko Murakami (Osaka), Allan Bayat (Dianalund), Philippe Campeau (Montréal), Taroh Kinoshita (Osaka), Peter Krawitz (Bonn) |
| PIGH | Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| PIGK | Yoshiko Murakami (Osaka), Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| PIGL | Yoshiko Murakami (Osaka), Allan Bayat (Dianalund), Philippe Campeau (Montréal), Taroh Kinoshita (Osaka), Peter Krawitz (Bonn) |
| PIGM | Yoshiko Murakami (Osaka), Allan Bayat (Dianalund), Philippe Campeau (Montréal), Taroh Kinoshita (Osaka), Peter Krawitz (Bonn) |
| PIGN | Yoshiko Murakami (Osaka), Allan Bayat (Dianalund), Philippe Campeau (Montréal), Taroh Kinoshita (Osaka), Peter Krawitz (Bonn) |
| PIGO | Yoshiko Murakami (Osaka), Taroh Kinoshita (Osaka) |
| PIGP | Yoshiko Murakami (Osaka), Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| PIGQ | Yoshiko Murakami (Osaka), Allan Bayat (Dianalund), Philippe Campeau (Montréal), Taroh Kinoshita (Osaka), Peter Krawitz (Bonn) |
| PIGS | Yoshiko Murakami (Osaka), Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| PIGT | Farhad Abbasi (Montreal), Philippe Campeau (Montréal) |
| PIGU | Yoshiko Murakami (Osaka), Taroh Kinoshita (Osaka) |
| PIGV | Aleksandra Jezela-Stanek (Warsaw), Philippe Campeau (Montréal) |
| PIGW | Yoshiko Murakami (Osaka), Allan Bayat (Dianalund), Philippe Campeau (Montréal), Taroh Kinoshita (Osaka), Peter Krawitz (Bonn) |
| PIGY | Yoshiko Murakami (Osaka), Allan Bayat (Dianalund), Philippe Campeau (Montréal), Taroh Kinoshita (Osaka), Peter Krawitz (Bonn) |
| PIK3CA | Bill Dobyns (Seattle), Ghayda Mirzaa (Seattle) |
| PIK3R2 | Bill Dobyns (Seattle), Ghayda Mirzaa (Seattle) |
| PLA2G6 | Susan Hayflick (Portland), Allison Gregory (Portland), Alison Freed (Portland) |
| PLAA | Arastoo Kaki (Hamedan), Ali Reza Tavasoli (Tehran) |
| PLAAT3 | Bart Dermaut (Ghent), Nika Schuermans (Ghent) |
| PLCB1 | Caroline Nava (Paris), Cyril Mignot (Paris) |
| PLOD3 | David Sillence (Sydney), Lisa Ewans (Sydney), Frederico Forneris (Pavia), Tony Roscioli (Kensington) |
| PNPO | Nouran Adly (Riyadh), Malak Alghamdi (Riyadh) |
| POC1A | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| POC5 | Machteld Oud (Nijmegen), Anneke Vulto-van Silfhout (Nijmegen) |
| POGZ | Evan Eichler (Seattle), Marjolein Willemsen (Nijmegen) |
| POLA1 | Ezra Burstein (Dallas), Andrew Zinn (Dallas) |
| POLA1 VEODS | Ezra Burstein (Dallas), Andrew Zinn (Dallas) |
| POLA1 XLPDR | Ezra Burstein (Dallas), Andrew Zinn (Dallas) |
| POLD3 | Cybel Mehawej (Beirut), Eliane Chouery (Beirut), Andre Megarbane (Beirut) |
| POLG | William C Copeland (Durham) |
| POLG2 | William C Copeland (Durham) |
| POLH | Alan Lehmann (Brighton) |
| POLR2A | Kristina Calli (British Columbia), Sydney Schulz (British Columbia), Suzanne Lewis (British Columbia) |
| POLR3GL | Éliane Beauregard-Lacroix (Montreal), Philippe Campeau (Montréal) |
| PPFIA3 | Claudia Cerezo (Houston), Arden Rae Wheeler (Houston), Hsiao-Tuan Chao (Houston) |
| PPM1D | Lisenka Vissers (Nijmegen), Cynthia Curry (Fresno), Bert de Vries (Nijmegen), Lennart Slagter (Nijmegen), Lex Dingemans (Nijmegen) |
| PPP1CB | Regina M. Zambrano (New Orleans), Michael Marble (Albuquerque) |
| PPP2CA | Lisenka Vissers (Nijmegen), Sandra Jansen (Nijmegen), Lennart Slagter (Nijmegen) |
| PPP3CA | Weimin Bi (Houston), John Pappas (New York), Saadet Mercimek-Andrews (Edmonton) |
| PQBP1 | Hitoshi Okazawa (Tokyo) |
| PRDM12 | Geoffey Woods (Cambridge) |
| PRDM16 | Sabine Klaassen (Berlin), Jirko Kühnisch (Berlin) |
| PREPL | John Creemers (Leuven), Luc Régal (Brussels) |
| PRICKLE1 | Mario Mastrangelo (Rome), Dario Esposito (Rome), Vincenzo Leuzzi (Rome) |
| PRKAR1A | Rachel Wurth (Maryland), Fady Hannah-Shmouni (Maryland), Constantine A. Stratakis (Maryland), Fabio R. Faucz (Maryland) |
| PRKAR1B | Pilar Caro (Heidelberg), Christian Schaaf (Houston) |
| PRMT7 | Marcello Scala (Genoa), Elisa Calí (London), Reza Maroofian (London) |
| PRORP | William G. Newman (Manchester) |
| PRPF8 | Himanshu Goel (Newcastle) |
| PRR12 | Weimin Bi (Houston) |
| PRRT2 | Stefan Wolking (Aachen), Yvonne Weber (Aachen) |
| PRUNE1 | Claudia Gonzaga-Jauregui (Tarrytown) |
| PSMC3 | Stéphane Bézieau (Nantes), Elke Krüger (Greifswald), Frédéric Ebstein (Nantes), Sébastien Küry (Nantes) |
| PSMD12 | Bertrand Isidor (Nantes), Sébastien Küry (Nantes), Pawel Stankiewicz (Houston) |
| PTCHD1 | John Vincent (Toronto), Ayeshah Chaudhry (Toronto) |
| PTEN | Virginie Bubien (Bordeaux), Cyril Mignot (Paris) |
| PTPN11 | Erika Leenders (Nijmegen) |
| PTPN23 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Jannette Mailo (Alberta), Khadijah Bakur (Riyadh) |
| PUF60 | Hormos Dafsari (Cologne) |
| PUM1 | Jimmy Lloyd Holder (Houston), Vincenzo Alessandro Gennarino (New York), Emma Palmer (Sydney) |
| PURA | Dierk Niessing (Munich/Ulm), Diana Baralle (Southhampton), Jennifer Gordon (Philadelphia), Margot Reijnders (Maastricht) |
| PUS3 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Ranad Shaheen (Riyadh), Khadijah Bakur (Riyadh) |
| PVRL1 | Paola Fortugno (Rome), Francesco Brancati (Rome) |
| PVRL4 | Paola Fortugno (Rome), Francesco Brancati (Rome) |
| PYCR1 | Dar-Shong Lin (Taipei) |
| QRICH1 | Silke Redler (Düsseldorf) |
| RAB11A | Maria Carla Borroto (Montreal), Philippe Campeau (Montréal) |
| RABGAP1 | Rachel Oh (Edmonton) |
| RAC3 | Valentin Ruault (Montpellier), Tiong Yang Tan (Melbourne) |
| RAI1 | Theresa Wilson (Houston) |
| RAI1 Potocki-Lupski Syndrome | Theresa Wilson (Houston) |
| RAI1 Smith-Magenis Syndrome | Theresa Wilson (Houston) |
| RALA | Susan M. Hiatt (Huntsville), Matthew B. Neu (Stanford), Gregory M. Cooper (Huntsville) |
| RAP1GDS1 | Majid Alfadhel (Riyadh), Muhammad Umair (Riyadh), Ahmed Alfares (Riyadh) |
| RARS2 | Daniela del Gaudio (Chicago), William Presley (Chicago) |
| RBM10 | Colleen M. Carlston (San Francisco), John Carey (Salt Lake City) |
| RBM28 | Filippo Pinto e Vairo (Rochester), Susan Baserga (New Haven) |
| RECQL1 | Grant Stewart (Birmingham) |
| RELN | Pasquale Striano (Genoa), Lorenzo Perilli (Genoa) |
| RERE | Danielle Bosch (Nijmegen) |
| RFX3 | Holly Harris (Houston), Timothy W. Yu (Boston), Jenny Lai (Boston) |
| RFX4 | Holly Harris (Houston), Timothy W. Yu (Boston), Jenny Lai (Boston) |
| RFX7 | Holly Harris (Houston), Timothy W. Yu (Boston), Jenny Lai (Boston) |
| RHOBTB2 | Hirotomo Saitsu (Hamamatsu), Mitsuhiro Kato (Tokyo) |
| RIC1 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| RICTOR | |
| RLIM | Francisco Bustos (Sioux Falls) |
| RMND1 | Emanuele Barca (New York), Catarina M. Quinzii (New York) |
| RNASET2 | Matthias Kettwig (Göttingen), Jutta Gärtner (Göttingen), Marco Henneke (Göttingen) |
| RNF113A | Anne Slavotinek (San Francisco) |
| RNU12 | Rahul Kanadia (Storrs), Alokkumar Jha (New York), Ji-Sun Kim (New York), Elizabeth Ross (New York) |
| RNU4ATAC | Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| ROR2 | Shubha R Phadke (Lucknow), A Haseena Sait (Lucknow) |
| RORA | Michel Koenig (Montpellier), Gaëtan Lesca (Lyon), Laurent Pasquier (Rennes), Erica Davis (Durham), Sébastien Küry (Nantes) |
| RP2 | Bernd Wollnik (Göttingen), Nina Bögershausen (Göttingen) |
| RPH3A | Alfredo Brusco (Torino), Lisa Pavinato (Bellinzona) |
| RPIA | Vikram Bhise (New Brunswick), Milen Velinov (New Brunswick) |
| RPS6KC1 | Agusti Rodriguez-Palmero (Barcelona), Aurora Pujol (Barcelona) |
| RSPRY1 | Fadie D. Altuame (Boston), Maha A. Faden (Riyadh), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| RTTN | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Hanan E Shamseldin (Riyadh), Khadijah Bakur (Riyadh) |
| RUSC2 | Ali Hassan Alwadei (Riyadh) |
| RXYLT1 | Hiroshi Manya (Tokyo) |
| SACS | Benoit J Gentil (Montreal) |
| SARS1 | Jean-Marie Ravel (Nancy) |
| SATB2 | Yuri Zarate (Little Rock (AR)) |
| SC4MOL | Jerry Vockley (Pittsburgh) |
| SCAPER | Tamar Ben-Yosef (Haifa) |
| SCN11A | Geoffey Woods (Cambridge) |
| SCN1A | Vikram Bagchi (Ann Arbor), Veronica Hood (Cherry Hill) |
| SCN1B | Megan Abbott (Denver), Lori Isom (Ann Arbor), Kelly Knupp (Denver) |
| SCN2A | Michael Hildebrand (Melbourne), Katherine Howell (Melbourne), Emma Palmer (Sydney) |
| SCN9A | Geoffey Woods (Cambridge) |
| SDHA | André Schaller (Bern) |
| SEC24D | Shinji Takeyari (Osaka), Keiichi Ozono (Osaka) |
| SERAC1 | Arjan de Brouwer (Nijmegen), Saskia Wortmann (Nijmegen) |
| SERPINA1 | Aleksandra Jezela-Stanek (Warsaw) |
| SET | Servi JC Stevens (Maastricht) |
| SETBP1 | Evan Eichler (Seattle) |
| SETBP1 related developmental delay | Bregje van Bon (Nijmegen) |
| SETBP1 Schinzel-Giedion syndrome | Bregje van Bon (Nijmegen) |
| SETD2 | John Pappas (New York), Rachel Rabin (New York) |
| SHANK1 | Thomas Bourgeron (Paris), Richard Delorme (Paris), Simone Berkel (Heidelberg), Gudrun A. Rappold (Heidelberg) |
| SHANK2 | Thomas Bourgeron (Paris), Richard Delorme (Paris), Simone Berkel (Heidelberg), Gudrun A. Rappold (Heidelberg), Aria Batut (Paris) |
| SHANK3 | Thomas Bourgeron (Paris), Richard Delorme (Paris), Simone Berkel (Heidelberg), Gudrun A. Rappold (Heidelberg), Aria Batut (Paris) |
| SHH | Alinoë Lavillaureix (Rennes), Sylvie Odent (Rennes), Christèle Dubourg (Rennes) |
| SHMT2 | Agusti Rodriguez-Palmero (Barcelona), Aurora Pujol (Barcelona) |
| SHOX2 | Sandra Hoffmann (Heidelberg), Gudrun A. Rappold (Heidelberg) |
| SIK1 | Bill Dobyns (Seattle), Alex Paciorkowski (New York) |
| SKI | Bart Loeys (Antwerp), Dorien Schepers (Antwerp) |
| SLC12A6 | Joohyun Park (Tübingen), Tobias B. Haack (Tübingen) |
| SLC16A1 | Jörn Oliver Sass (Rheinbach) |
| SLC16A2 | Davide Tonduti (Milano), Isabelle Oliver Petit (Toulouse), Catherine Sarret (Clermont-Ferrand) |
| SLC18A3 | Anna Hakonen (Helsinki) |
| SLC1A1 | Jeremy Veenstra-VanderWeele (New York), Muhammad O. Chohan (New York) |
| SLC25A12 | Judith Jans (Utrecht) |
| SLC25A22 | Florence Molinari (Marseille) |
| SLC31A1 | Christoph Bührer (Berlin) |
| SLC45A1 | Sarah Alsubhi (Montreal), Myriam Srour (Montreal) |
| SLC6A1 | Katrine M. Johannesen (Copenhagen) |
| SLC6A9 | Irene Mademont-Soler (Girona), Dolors Casellas-Vidal (Girona) |
| SLC7A3 | Jo Sourbron (Leuven), Lieven Lagae (Leuven) |
| SLC9A1 | John Orlowski (Montreal) |
| SLC9A3 | John Orlowski (Montreal) |
| SLC9A6 | Michael Field (Waratah), John Orlowski (Montreal) |
| SLC9A7 | Michael Field (Waratah), John Orlowski (Montreal) |
| SLF2 | Grant Stewart (Birmingham) |
| SLITRK3 | Stephanie Efthymiou (London), Henry Houlden (London) |
| SMAD3 | Bart Loeys (Antwerp), Dorien Schepers (Antwerp) |
| SMAD4 | Ceren Alavanda (Istanbul), Ayça Dilruba Aslanger (Istanbul) |
| SMARCA4 | Gijs Santen (Leiden) |
| SMARCA5 | Matthew Deardorff (Los Angeles), Dong Li (Philadelphia) |
| SMARCB1 | Emma Clement (London), Cristina Dias (London) |
| SMARCC2 | Philippe Campeau (Montréal), Vandana Shashi (Durham), Keren Machol (Houston) |
| SMARCD1 | Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| SMARCE1 | Samantha A. Schrier Vergano (Norfolk) |
| SMC5 | Grant Stewart (Birmingham) |
| SMG8 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| SMG9 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Ranad Shaheen (Riyadh), Khadijah Bakur (Riyadh) |
| SMS | Angela Peron (Salt Lake City), Charles E. Schwartz (Greenwood) |
| SNX14 | Shubha R Phadke (Lucknow), A Haseena Sait (Lucknow) |
| SON | Lisenka Vissers (Nijmegen), Eun-Young Erin Ahn (Mobile), John Carey (Salt Lake City) |
| SOX4 | Claudio Graziano (Bologna), Veronique Lefebvre (Philadelphia) |
| SOX5 | Alma Kuechler (Essen), Veronique Lefebvre (Philadelphia), Christel Depienne (Essen) |
| SOX6 | Cedric le Caignec (Toulouse), Veronique Lefebvre (Philadelphia) |
| SPEG | Pankaj Agrawal (Miami), Tzofia Drori (Miami) |
| SPOP | Maria Nabais Sá (Nijmegen), Bert de Vries (Nijmegen) |
| SPOP GoF | Maria Nabais Sá (Nijmegen), Bert de Vries (Nijmegen) |
| SPOP LoF | Lisenka Vissers (Nijmegen), Maria Nabais Sá (Nijmegen), Philip Jensik (Carbondale), Bert de Vries (Nijmegen), Lex Dingemans (Nijmegen) |
| SPTAN1 | Hirotomo Saitsu (Hamamatsu), Jun Tohyama (Niigata) |
| SRCAP | David Koolen (Nijmegen) |
| SRCAP FLHS | Jane Hurst (London), Lara Menzies (London) |
| SREBF1 | Juan Carlos Zenteno (Mexico City) |
| SRRM2 | Silvestre Cuinat (Nantes) |
| SSBP1 | William C Copeland (Durham) |
| STAG1 | Kakha Bregvadze (Tbilisi), Tinatin Tkemaladze (Tbilisi) |
| STAG2 | Sérgio D.J. Pena (Belo Horizonte) |
| STT3A | Daisy Rymen (Leuven), Matthew Wilson (Leuven) |
| STXBP1 | Mieke van Haelst (Amsterdam), Matthijs Verhage (Amsterdam), Mala Misra-Isrie (Amsterdam), Jovana Kovacevic (Amsterdam) |
| SUCLA2 | Ulrike Steuerwald (Tórshavn), Carlo Dionisi-Vici (Rome), Ron A. Wevers (Nijmegen) |
| SUCLG1 | Cécile Rouzier (Nice), Annabelle Chaussenot (Nice) |
| SUPT16H | Emanuela Argilli (San Francisco) |
| SYT1 | Kate Baker (Cambridge), Anna Kolesnik-Taylor (Cambridge) |
| TAF1 | Gholson Lyon (Staten Island, New York) |
| TAF2 | Boris Keren (Paris) |
| TAF6 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| TANC2 | Alessandra Murgia (Padua), Elisa Bettella (Padua) |
| TANGO2 | Kuntal Sen (Washington, DC), Andrea L. Gropman (Washington, DC) |
| TBC1D20 | Alessandro De Luca (Rome), Davide Scarselli (Rome) |
| TBC1D24 | Sanjay Sisodiya (London), Philippe Campeau (Montréal) |
| TBCK | Elizabeth Bhoj (Philadelphia), Xilma Ortiz-Gonzalez (Philadelphia) |
| TBL1X | Nitash Zwaveling-Soonawala (Amsterdam), Paul van Trotsenburg (Amsterdam) |
| TBR1 | Olaf Bodamer (Boston), Sophie Nambot (Dijon), Hannelore Ehrenreich (Göttingen) |
| TBX4 | Ernie Bongers (Nijmegen) |
| TCF7L2 | Marta Wisniewska (Warsaw), Lukasz Szewczyk (Warsaw) |
| TCOF1 | Dagmar Wieczorek (Düsseldorf), Ariane Schmetz (Düsseldorf) |
| TDP2 | Keith W Caldecott (Brighton) |
| TEFM | Rita Horvath (Cambridge), Catarina Olimpio (Cambridge) |
| TELO2 | Claudia Ciaccio (Milan), Chiara Pantaleoni (Milan), Stefano D'Arrigo (Milan) |
| TENM3 | |
| TFE3 | Daphne Lehalle (Paris), Eyby Leon (Washington) |
| TGFB3 | Aline Verstraeten (Antwerp) |
| TH | Jie Zhang (Yunnan), Bing Bai (Yunnan), Lifen Duan (Yunnan) |
| THG1L | John Pappas (New York), Rachel Rabin (New York) |
| THOC2 | Raman Kumar (Adelaide), Michael Field (Waratah), Jackie Boyle (Waratah), Jozef Gecz (Adelaide), Emma Palmer (Sydney) |
| THOC6 | Valeria Capra (Genova), Gabrielle Lemire (Ottowa) |
| TIAM1 | Wendy Chung (New York), Hugo Bellen (Houston), Shenzhao Lu (Houston) |
| TMCO1 | Baozhong Xin (Middlefield), Bea Torres-Fults (Middlefield), Heng Wang (Middlefield) |
| TMEM126B | Robert W Taylor (Newcastle upon Tyne), Robert McFarland (Newcastle upon Tyne), Charlotte L Alston (Newcastle upon Tyne) |
| TMEM231 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Ranad Shaheen (Riyadh), Khadijah Bakur (Riyadh) |
| TMEM94 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Joshi Stephen (Maryland), Khadijah Bakur (Riyadh) |
| TMTC3 | Andre Megarbane (Beirut) |
| TNIK | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| TOR1A | Homa Tajsharghi (Skövde) |
| TPI1 | Ferenc Orosz (Budapest) |
| TPP2 | Isis Atallah (Lausanne), Andrea Superti-Furga (Lausanne) |
| TRAF7 | Roser Urreizti (Barcelona) |
| TRAPPC4 | John Christodoulou (Melbourne), Nicole van Bergen (Parkville) |
| TRAPPC6B | Maha S. Zaki (Cairo), Mohamed G. Ayad (Cairo) |
| TRAPPC9 | Gul Unsel Bolat (Balikesir), Hilmi Bolat (Balikesir) |
| TRHR | Nitash Zwaveling-Soonawala (Amsterdam), Paul van Trotsenburg (Amsterdam) |
| TRIO | Lisenka Vissers (Nijmegen), Diana Baralle (Southhampton), Konstantinos Varvagiannis (Athens), Bert de Vries (Nijmegen), Lex Dingemans (Nijmegen) |
| TRIP12 | Dagmar Wieczorek (Düsseldorf), Nuria Brämswig (Münster) |
| TRIP4 | Rocío Nur Villar Quiles (Paris), Ana Ferreiro (Paris), Isabelle Duband-Goulet (Paris) |
| TRMT1 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| TRPM3 | Thomas Voets (Leuven), Joris Vriens (Leuven) |
| TRRAP | Benjamin Cogné (Nantes), Coralie Michaud (Montreal), Philippe Campeau (Montréal), Sébastien Küry (Nantes) |
| TSEN15 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| TSHB | Nitash Zwaveling-Soonawala (Amsterdam), Paul van Trotsenburg (Amsterdam) |
| TUBB2A | Anna Jansen (Antwerp), Stefanie Brock (Brussels) |
| TULP3 | Carsten Bergmann (Mainz), John A Sayer (Newcastle Upon Tyne) |
| TWNK | William C Copeland (Durham) |
| TXNL4A | William G. Newman (Manchester) |
| UBAP1 | Agusti Rodriguez-Palmero (Barcelona), Aurora Pujol (Barcelona) |
| UBE3B | Maha S. Zaki (Cairo), Mohamed G. Ayad (Cairo) |
| UBR5 | Philippe Campeau (Montréal), Pascale Sabeh (Montreal) |
| UBR7 | Éliane Beauregard-Lacroix (Montreal), Coralie Michaud (Montreal), Philippe Campeau (Montréal) |
| UFC1 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| UFM1 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| UFSP2 | Monika Weisz-Hubshman (Houston) |
| UGDH | Bruno Reversade, Saumya Shekhar Jamuar |
| UNC45A | Caroline Racine (Dijon), Laurence Faivre (Dijon) |
| UNC80 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Hanan E Shamseldin (Riyadh), Khadijah Bakur (Riyadh) |
| UROC1 | Rafael Artuch (Barcelona), Roser Urreizti (Barcelona) |
| USP27X | Francisco Bustos (Sioux Falls) |
| USP7 | Pilar Caro (Heidelberg), Christian Schaaf (Houston) |
| VPS13B | Baozhong Xin (Middlefield), Sarah Ossler (Middlefield), Heng Wang (Middlefield) |
| VPS13D | Coralie Michaud (Montreal), Philippe Campeau (Montréal), Inge Meijer (Montreal) |
| VPS16 | Michael Zech (Munich), Manju Kurian (London) |
| VPS16 autosomal recessive | Yılmaz Yıldız (Ankara) |
| VRK1 | Ephrat Levy-Lahad (Jerusalem), Lina Berkun (Jerusalem) |
| WAC | Lisenka Vissers (Nijmegen), Konstantinos Varvagiannis (Athens), Bert de Vries (Nijmegen), Lex Dingemans (Nijmegen) |
| WASF1 | Toshiyuki Yamamoto (Tokyo) |
| WDFY3 | Diana Le Duc (Leipzig), Konstantinos Zarbalis (Sacramento), Rami Abou Jamra (Leipzig) |
| WDR26 | Matthew Deardorff (Los Angeles), Cara Skraban (Philadelphia) |
| WDR35 | Joanna Walczak-Sztulpa (Poznan) |
| WDR4 | Fowzan Alkuraya (Riyadh), Khadijah Bakur (Riyadh) |
| WDR45 | Susan Hayflick (Portland), Allison Gregory (Portland) |
| WDR62 | Muhammad Ikram Ullah (Sakaka), Muhammad Jawad Hassan (Islamabad) |
| WDR81 | Fadie D. Altuame (Boston), Fowzan Alkuraya (Riyadh), Ranad Shaheen (Riyadh), Khadijah Bakur (Riyadh) |
| WDR83OS | Jennifer E. Posey (New York), Davut Pehlivan (Houston) |
| WNT10B | Petit Florence (Lille), Brunelle Perrine (Lille) |
| WWOX | Rami Aqeilan (Jerusalem) |
| XPA | Alan Lehmann (Brighton) |
| XPB | Alan Lehmann (Brighton) |
| XPC | Alan Lehmann (Brighton) |
| XPD | Alan Lehmann (Brighton) |
| XPE | Alan Lehmann (Brighton) |
| XPF | Alan Lehmann (Brighton) |
| XPG | Alan Lehmann (Brighton) |
| YWHAG | Michelle Demos (Vancouver BC), Shelin Adam (Vancouver BC), Malavika Hebbar (Vancouver BC) |
| YY1 | Michele Gabriele (Milan), Giuseppe Testa (Milan), Bert de Vries (Nijmegen), David Koolen (Nijmegen), Lex Dingemans (Nijmegen) |
| ZBTB18 | Vyne van der Schoot (Rotterdam) |
| ZBTB20 | Toshiyuki Yamamoto (Tokyo) |
| ZBTB7A | Kristian Tveten (Skien), Charlotte von der Lippe (Skien) |
| ZDHHC9 | Kate Baker (Cambridge), Anna Kolesnik-Taylor (Cambridge) |
| ZEB2 | David Mowat (Sydney), Margaret Adam (Washington), Stefano Giuseppe Caraffi (Reggio Emilia), Meredith Wilson (Sydney), Ivan Ivanovski (Zurich), Livia Garavelli (Reggio Emilia) |
| ZFHX4 | Sixto García-Miñaúr (Madrid), María Palomares Bralo (Madrid), Fernando Santos-Simarro (Madrid), Sarah Vergult (Ghent), Bert Callewaert (Ghent) |
| ZIC1 | Andrew Wilkie (Oxford), Steve Twigg (Oxford), Debbie Shears (Oxford) |
| ZIC2 | Ruth Arkell (Canberra), Madeleine Hardy (Canberra) |
| ZMYM3 | Susan M. Hiatt (Huntsville), Gregory M. Cooper (Huntsville) |
| ZMYND11 | Amelle Shillington (Cincinnati), Jason Tchieu (Cincinnati) |
| ZNF148 | Servi JC Stevens (Maastricht), Abdallah F Elias (Montana) |
| ZNF462 | Himanshu Goel (Newcastle), Anna Hau (Newcastle) |
| ZNF526 | Maria Lisa Dentici (Rome) |
| ZNF668 | Hessa S Alsaif (Riyadh), Fowzan Alkuraya (Riyadh), Hatoon Al Ali (Houston) |
| ZNF711 | Anke Van Dijck (Antwerp), Frank Kooy (Antwerp) |
| ZRSR2 | Jeroen Breckpot (Leuven) |
| ZSWIM6 | Raman Kumar (Adelaide), Michael Field (Waratah), Jozef Gecz (Adelaide), Emma Palmer (Sydney), Lucinda Murray (Sydney) |
