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