| Name | Symbol | Moderators |
|---|---|---|
| ABAT |
Phillip Pearl (Boston, United States), Melissa DiBacco (Boston, United States), Keely Mack (Belgium), Michael Gibson (Spokane, United States) |
|
| ABCA2 |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| ACER3 | Cungui Mao (New York, United States) | |
| ACTL6A |
Mari Tokita (San Diego, United States), Ronit Marom (Houston, United States) |
|
| ACTL6B | Philippe Campeau (Montréal, Canada) | |
| ACTL6B dominant | Philippe Campeau (Montréal, Canada) | |
| ACTL6B recessive |
Carl Ernst (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| ADAMTSL2 | Merlin Butler (Kansas City, United States) | |
| ADAMTSL2 autosomal dominant | Merlin Butler (Kansas City, United States) | |
| ADAMTSL2 autosomal recessive | Merlin Butler (Kansas City, United States) | |
| ADARB1 |
Tiong Yang Tan (Melbourne, Australia), Calder Hamill (Clayton, Australia) |
|
| ADAT3 |
Shital Tester (Ahmedabad, India), Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| ADGRB3 |
Corrado Romano (Troina, Italy), Marco Fichera (Catania, Italy) |
|
| ADGRG6 | Gina Ravenscroft (Perth, Australia) | |
| ADNP |
Frank Kooy (Antwerp, Belgium), Anke Van Dijck (Antwerp, Belgium), Evan Eichler (Seattle, United States), Lusine Harutyunyan (Antwerpen, Belgium), Claudio D'Incal (Antwerpen, Belgium), Bert de Vries (Nijmegen, Netherlands) |
|
| AGK |
Sofia Barbosa-Gouveia (Santiago de Compostela, Spain), Álvaro Hermida Ameijeiras (Santiago de Compostela, Spain) |
|
| AGMO |
Katrin Watschinger (Innsbruck, Austria), Wendy Chung (New York, United States) |
|
| AHDC1 |
Shital Tester (Ahmedabad, India), Margje Sinnema (Maastricht, Netherlands), Sander Stegmann (Maastricht, Netherlands), Vasudevan Pradeep (Leicester, United Kingdom) |
|
| AIMP2 |
Anju Shukla (Manipal, India), Kiranam Chatti (Hyderabad, India), Neerja Gupta (New Delhi, India) |
|
| AKT3 |
Bill Dobyns (Seattle, United States), Ghayda Mirzaa (Seattle, United States) |
|
| ALKBH8 |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| ALPK3 |
Johanna C. Herkert (Groningen, Netherlands), Judith Verhagen (Rotterdam, Netherlands) |
|
| ALX1 |
Nurten Akarsu (Ankara, Turkey), Arda Cetinkaya (Istanbul, Turkey) |
|
| AMOTL1 |
Alanna Strong (Philadelphia, United States), Timothy Cox (Kansas City, United States) |
|
| ANKH |
Ernst Reichenberg (Farmington, United States), I-ping Chen (Farmington, United States), Charlene Williams (Camden, United States), Thomas Carpenter (New Haven, United States) |
|
| ANKLE2 |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia), Khadijah Bakur (Riyadh, Saudi Arabia) |
|
| ANKRD11 |
Charlotte Ockeloen (Nijmegen, Netherlands), Rolph Pfundt (Nijmegen, Netherlands), Karen Low (Bristol, United Kingdom), Raghu Prajapati (AHMEDABAD, India), Gholson Lyon (Staten Island, New York, United States), Evi Andriessen (Nijmegen, Netherlands) |
|
| ANKRD17 |
Maya Chopra (Boston, United States), Chris Gordon (Paris, France) |
|
| ANO10 |
Ioannis Livanos (Nicosia, Cyprus), Christina Votsi (Nicosia, Cyprus), Kryproula Christodoulou (Nicosia, Cyprus) |
|
| AP1B1 |
Mohnish Suri (Nottingham, United Kingdom), Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| AP3B2 |
Hormos Dafsari (Cologne, Germany), Maxi Wiese (Cologne, Germany) |
|
| AP3D1 |
Hormos Dafsari (Cologne, Germany), Maxi Wiese (Cologne, Germany) |
|
| AP4B1 | Darius Ebrahimi-Fakhari (Boston, United States) | |
| AP4E1 | Darius Ebrahimi-Fakhari (Boston, United States) | |
| AP4M1 | Darius Ebrahimi-Fakhari (Boston, United States) | |
| AP4S1 | Darius Ebrahimi-Fakhari (Boston, United States) | |
| APOPT1 |
Erika Fernandez-Vizarra (Cambridge, United Kingdom), Massimo Zeviani (Cambridge, United Kingdom) |
|
| ARCN1 |
Kosuke Izumi (Philadelphia, United States), Alyssa Ritter (Philadelphia, United States) |
|
| ARFGEF1 |
Quentin Thomas (Dijon, France), Antonio Vitobello (Dijon, France) |
|
| ARID1A |
Gijs Santen (Leiden, Netherlands), Eline van der Sluijs (Leiden, Netherlands) |
|
| ARID1B |
Gijs Santen (Leiden, Netherlands), Eline van der Sluijs (Leiden, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
|
| ARID2 |
Gijs Santen (Leiden, Netherlands), Eline van der Sluijs (Leiden, Netherlands), Nuria Brämswig (Münster, Germany) |
|
| ARL14EP |
Ranad Shaheen (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| ARL3 |
Laura J Powell (Newcastle Upon Tyne, United Kingdom), John A Sayer (Newcastle Upon Tyne, United Kingdom) |
|
| ARL6 |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| ARMC5 |
Rachel Wurth (Maryland, United States), Fady Hannah-Shmouni (Maryland, United States), Fabio R. Faucz (Maryland, United States), Constantine A. Stratakis (Maryland, United States) |
|
| ARMC9 |
Ashwin Dalal (Hyderabad, India), Shubha R Phadke (Lucknow, India), Anjana Kar (Hyderabad, India) |
|
| ARV1 |
Farhad Abbasi (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| ARX | Bill Dobyns (Seattle, United States) | |
| ASCC1 |
Laura Bernardini (Rome, Italy), Antonio Pizzuti (Rome, Italy), Maria Grazia Giuffrida (Rome, Italy), Gioia Mastromoro (Rome, Italy) |
|
| ASNA1 |
Judith Verhagen (Rotterdam, Netherlands), Ingrid M.B.H. van de Laar (Rotterdam, Netherlands) |
|
| ASPH |
Nisha Patel (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| ASXL2 |
Loren Pena (Cincinnati, United States), Vandana Shashi (Durham, United States), Kelly Schoch (Durham, United States) |
|
| ASXL3 |
Stephanie Bielas (Ann Arbor, United States), Donna Martin (Ann Arbor, United States), Irene Valenzuela (Barcelona, Spain) |
|
| ATIC | Francis Ramond (Saint-Etienne, France, Metropolitan) | |
| ATN1 |
Stefan Arold (Thuwal, Saudi Arabia), Emma Palmer (Sydney, Australia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| ATOH1 |
Karen B. Avraham (Tel Aviv, Israel), Zippora Brownstein (Tel Aviv, Israel) |
|
| ATP1A1 | Francesco Nicita (Rome, Italy) | |
| ATP1A2 |
M.J.V. Hoffer (Leiden, Netherlands), A.M.J.M. van den Maagdenberg (Leiden, Netherlands), A.V.E. Harder (Leiden, Netherlands) |
|
| ATP2B3 | Ginevra Zanni (Rome, Italy) | |
| ATP6V0C |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| ATP6V1B2 |
Yongyi Yuan (Beijing, China), Pu Dai (Beijing, China), Xi Lin (Atlanta, United States) |
|
| ATP8A2 |
Joana Damásio (Porto, Portugal), João Moura (Porto, Portugal), Mariana Santos (Porto, Portugal) |
|
| ATXN2L |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| AUTS2 |
Gea Beunders (Amsterdam, Netherlands), Erik Sistermans (Amsterdam, Netherlands) |
|
| B4GALT7 |
Marzia Pollazzon (Reggio Emilia, Italy), Andre Superti-Furga (Lausanne, Switzerland), Livia Garavelli (Reggio Emilia, Italy), Stefano Giuseppe Caraffi (Reggio Emilia, Italy) |
|
| B9D2 |
Katta Mohan Girisha (Udupi, India), Shalini Nayak (Manipal, India) |
|
| BANF1 |
Clea Fernández (Oviedo, Spain), Carlos López-Otín (Madrid, Spain), José Freije (Oviedo, Spain) |
|
| BBS1 |
Floriana Secondulfo (Naples, Italy), Miriam Zacchia (Naples, Italy) |
|
| BCAP31 |
Laurent Villard (Marseille, France), Sandra Whalen (Paris, France) |
|
| BCL11A |
Cristina Dias (London, United Kingdom), Angela Peron (Salt Lake City, United States), David Viskochil (Salt Lake City, United States) |
|
| BGN |
Josephina Meester (Antwerp, Belgium), Bart Loeys (Antwerp, Belgium) |
|
| BLOC1S5 | Benoit Arveiler (Bordeaux, France) | |
| BMP2 |
Claudia Gonzaga-Jauregui (Tarrytown, United States), Tiong Yang Tan (Melbourne, Australia) |
|
| BPTF |
Pawel Stankiewicz (Houston, United States), Yaping Yang (Houston, United States) |
|
| BRAT1 |
Siddharth Srivastava (Boston, United States), Sakkubai Naidu (Baltimore, United States) |
|
| BRPF1 |
Farhad Abbasi (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| BRWD3 | Michael Field (Waratah, Australia) | |
| BSCL2 |
Adolfo Lopez de Munain (San Sebastian, Spain), Gorka Fernández-Eulate (Paris, France), Aurora Pujol (Barcelona, Spain) |
|
| C12orf4 | Irma Järvelä (Helsinki, Finland) | |
| C12orf57 |
Raghu Prajapati (AHMEDABAD, India), Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| C18orf32 |
Smrithi Salian (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| C2orf69 |
Miriam Elbracht (Aachen, Germany), Florian Kraft (Aachen, Germany) |
|
| CA8 | Chris Richmond (Brisbane, Australia) | |
| CACNA1A |
M.J.V. Hoffer (Leiden, Netherlands), A.M.J.M. van den Maagdenberg (Leiden, Netherlands), A.V.E. Harder (Leiden, Netherlands) |
|
| CAMK2A |
Geeske van Woerden (Rotterdam, Netherlands), Sandra Mercier (Nantes, France), Sébastien Küry (Nantes, France) |
|
| CAMK2B |
Geeske van Woerden (Rotterdam, Netherlands), Sandra Mercier (Nantes, France), Sébastien Küry (Nantes, France) |
|
| CAMLG |
Daisy Rymen (Leuven, Belgium), Matthew Wilson (Leuven, Belgium) |
|
| CAPRIN1 |
Lisa Pavinato (Bellinzona, Switzerland), Alfredo Brusco (Torino, Italy) |
|
| CC2D1A |
Elif Funda Sener (Kayseri, Turkey), Minoo Rassoulzadegan (Nice, France) |
|
| CC2D2A |
Muhammad Ismail Khan (Khyber Pakhtunkhwa, Pakistan), Musharraf Jelani (Khyber Pakhtunkhwa, Pakistan) |
|
| CCDC186 |
Ingo Borggräfe (Munich, Germany), Matias Wagner (Munich, Germany), Melanie Brugger (Munich, Germany) |
|
| CCDC88A |
Geoffey Woods (Cambridge, United Kingdom), Angela F Brady (Harrow, United Kingdom) |
|
| CCND2 |
Bill Dobyns (Seattle, United States), Ghayda Mirzaa (Seattle, United States) |
|
| CD55 |
Alina Kurolap (Haifa, Israel), Hagit Baris Feldman (Haifa, Israel) |
|
| CDH1 |
Jamal Ghoumid (Lille, France), Sylvie Manouvrier (Lille, France) |
|
| CDK10 |
Juliette Piard (Besançon, France), Lionel van Maldergem (Besançon, France) |
|
| CDK13 | Lex Dingemans (Nijmegen, Netherlands) | |
| CELF4 | Rita Barone (Catania, Italy) | |
| CENPF | Isabel Filges (Basel, Switzerland) | |
| CEP120 |
Enza Maria Valente (Pavia, Italy), Susanne Roosing (Nijmegen, Netherlands), Valentina Serpieri (Pavia, Italy) |
|
| CEP57 |
Fernando Santos-Simarro (Madrid, Spain), Marta Miguez (Madrid, Spain), María Palomares Bralo (Madrid, Spain), Anna Mª Cueto-González (Barcelona, Spain) |
|
| CEP78 |
Pietro Farinelli (Copenhagen, Denmark), Konstantinos Nikopoulos (Lausanne, Switzerland), Carlo Rivolta (Leicester, United Kingdom) |
|
| CERT1 |
Hiroaki Murakami (Gifu, Japan), Kenji Kurosawa (Kanagawa, Japan), Kentaro Hanada (Tokyo, Japan), Vincenzo Alessandro Gennarino (New York, United States) |
|
| CHD2 | Evan Eichler (Seattle, United States) | |
| CHD3 |
Erik van Heesbeen (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| CHD4 | Karin Weiss (Haifa, Israel) | |
| CHD5 |
Cyril Mignot (Paris, France, Metropolitan), Ilaria Parenti (Essen, Germany), Christel Depienne (Essen, Germany) |
|
| CHD8 |
Raphael Bernier (Seattle, United States), Evan Eichler (Seattle, United States), Kim Truijen (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
|
| CHKB |
Ichizo Nishino (Tokyo, Japan), Sophelia Hoi Shan Chan (Hong Kong SAR, China), Brian Hon Yin Chung (Hong Kong, Hong Kong) |
|
| CHR1Q21 |
Heather Mefford (Seattle, United States), Evan Eichler (Seattle, United States) |
|
| CHRNG |
Andres Nascimento (Barcelona, Spain), Daniel Natera de Benito (Barcelona, Spain) |
|
| CHST3 |
Somya Srivastava (Lucknow, India), Shubha R Phadke (Lucknow, India) |
|
| CIC |
Huda Zoghbi (Houston, United States), Mark Durham (Houston, United States), Kim Truijen (Nijmegen, Netherlands) |
|
| CLCN4 |
Vera Kalscheuer (Berlin, Germany), Emma Palmer (Sydney, Australia) |
|
| CLDN11 |
Sylvia Stockler (Vancouver, Canada), Korbinian Riedhammer (Munich, Germany), Simone Race (Vancouver, Canada) |
|
| CLN5 |
Stephanie Efthymiou (London, United Kingdom), Henry Houlden (London, United Kingdom) |
|
| CLP1 |
Ender Karaca (Birmingham, United States), James R. Lupski (Houston, United States) |
|
| CLPP |
Leigh A.M. Demain (Manchester, United Kingdom), William G. Newman (Manchester, United Kingdom) |
|
| CLTC | David Koolen (Nijmegen, Netherlands) | |
| CLTCL1 | Geoffey Woods (Cambridge, United Kingdom) | |
| CNKSR2 |
Jill Clayton-Smith (Manchester, United Kingdom), Rebecca Sayer (Manchester, United Kingdom) |
|
| CNNM2 |
J.H.F. de Baaij (Nijmegen, Netherlands), J.G.J. Hoenderop (Nijmegen, Netherlands) |
|
| CNOT2 | Jean-Marc Good (Lausanne, Switzerland) | |
| CNTNAP1 | Andre Megarbane (Beirut, Lebanon) | |
| CNTNAP2 |
Gianluca D'Onofrio (Genoa, Italy), Andrea Accogli (Montreal, Canada) |
|
| COG4 | Carlos R. Ferreira (Washington, DC, United States) | |
| COG6 |
Miriam Elbracht (Aachen, Germany), Florian Kraft (Aachen, Germany), Licia Lugli (Modena, Italy), Alberto Berardi (Modena, Italy) |
|
| COG7 |
Dulce Quelhas (Porto, Portugal), Jaak Jaeken (Leuven, Belgium) |
|
| COL27A1 | Claudia Gonzaga-Jauregui (Tarrytown, United States) | |
| COPB1 |
William Macken (Southampton, United Kingdom), Diana Baralle (Southhampton, United Kingdom) |
|
| COQ2 |
Eva Trevisson (Padova, Italy), Catarina M. Quinzii (New York, United States) |
|
| COQ9 |
Halil Akar (Ankara, Turkey), Asburce Olgac (Ankara, Turkey) |
|
| COX7B |
Brunella Franco (Naples, Italy), Alessia Indrieri (Naples, Italy) |
|
| CPE |
Georgia Vasileiou (Erlangen, Germany), Elisabeth Bosch (Erlangen, Germany) |
|
| CRADD |
Nataliya Di Donato (Dresden, Germany), Bill Dobyns (Seattle, United States) |
|
| CRLS1 |
Aleksandra Filipovska (Perth, Australia), Richard Lee (Perth, Australia), Shanti Balasubramaniam (Sydney, Australia) |
|
| CSNK1G1 |
Elizabeth Bhoj (Philadelphia, United States), Nina B. Gold (Boston, United States) |
|
| CTNNB1 |
Brian Hon Yin Chung (Hong Kong, Hong Kong), Mandy Tsang (Hong Kong, Hong Kong), Stephanie Ho (Hong Kong, China), Ho-ming Luk (Hong Kong, China), Ivan Fai-man Lo (Hong Kong, China) |
|
| CTNND1 |
Jamal Ghoumid (Lille, France), Sylvie Manouvrier (Lille, France) |
|
| CTU2 |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| CUL4B | Emanuele Bartolini (Pisa, Italy) | |
| CWC27 |
Rui Chen (Houston, United States), Ruifang Sui (Peking, China) |
|
| CYFIP2 |
Anais Begemann (Schlieren, Switzerland), Anita Rauch (Schlieren-Zurich, Switzerland) |
|
| DALRD3 | Dragony Fu (Rochester, United States) | |
| DCAF17 |
Raghu Prajapati (AHMEDABAD, India), Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| DCC |
Ashley Pamela Lesle Marsh (Melbourne, Australia), Saumya Shekhar Jamuar (Singapore) |
|
| DCT |
Benoit Arveiler (Bordeaux, France), Sophie Javerzat (Bordeaux, France) |
|
| DDB1 | Sue White (Melbourne, Australia) | |
| DDX3X | Lex Dingemans (Nijmegen, Netherlands) | |
| DDX59 |
Hanan E Shamseldin (Riyadh, Saudi Arabia), Raghu Prajapati (AHMEDABAD, India), Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| DEAF1 |
Lisenka Vissers (Nijmegen, Netherlands), Philip Jensik (Carbondale, United States), Maria Nabais Sá (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Anneke Vulto-van Silfhout (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
|
| DEAF1 autosomal dominant |
Lisenka Vissers (Nijmegen, Netherlands), Philip Jensik (Carbondale, United States), Maria Nabais Sá (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Anneke Vulto-van Silfhout (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
|
| DEAF1 autosomal recessive |
Lisenka Vissers (Nijmegen, Netherlands), Philip Jensik (Carbondale, United States), Maria Nabais Sá (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Anneke Vulto-van Silfhout (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
|
| DEGS1 |
Aurora Pujol (Barcelona, Spain), Agusti Rodriguez-Palmero (Barcelona, Spain) |
|
| Deletion 22q11 | Lex Dingemans (Nijmegen, Netherlands) | |
| DENND5A |
Emily Banks (Montreal, Canada), Peter McPherson (Montreal, Canada) |
|
| DHX30 | Davor Lessel (Hamburg, Germany) | |
| DIS3L2 | Eamonn R Maher (Cambridge, United Kingdom) | |
| DLD |
Attila Ambrus (Budapest, Hungary), László Tretter (Budapest, Hungary), Eszter Szabó (Budapest, Hungary) |
|
| DNAJC19 |
Steven Greenway (Calgary, Canada), Aneal Khan (Calgary, Canada) |
|
| DNMT3A | Kate Tatton-Brown (London, United Kingdom) | |
| DNMT3A gain of function | Lex Dingemans (Nijmegen, Netherlands) | |
| DOCK6 |
Ranad Shaheen (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| DOCK7 | Dilşad Türkdoğan (Istanbul, Turkey) | |
| DPH1 |
Ho-ming Luk (Hong Kong, China), Ivan Fai-man Lo (Hong Kong, China), Shirley Sze-Wing Cheng (Hong Kong, China) |
|
| DPM2 |
Eva Morava-Kozicz (Rochester), Silvia Radenkovic (Rochester, United States) |
|
| DVL1 |
A Haseena Sait (Lucknow, India), Shubha R Phadke (Lucknow, India) |
|
| DYRK1A |
Raghu Prajapati (AHMEDABAD, India), Bregje Bon (Nijmegen, Netherlands), Evan Eichler (Seattle, United States) |
|
| EARS2 |
Sofia Barbosa-Gouveia (Santiago de Compostela, Spain), Álvaro Hermida Ameijeiras (Santiago de Compostela, Spain) |
|
| EBF3 |
Michael F. Wangler (Houston, United States), Hsiao-Tuan Chao (Houston, United States) |
|
| EFNB1 |
Jorge Corona Rivera (Guadalajara, Mexico), Christian Peña-Padilla (Guadalajara, Mexico), Rocío Cortés-Pastranaa (Guadalajara, Mexico) |
|
| EHMT1 | Lex Dingemans (Nijmegen, Netherlands) | |
| EHMT2 |
Ana Krepischi (São Paulo, Brazil), Maria Barrero (Madrid, Spain), Laura Carvalho (São Paulo, Brazil), Beatriz de Oliveira (São Paulo, Brazil), Lenka Noskova (Prague, Czech Republic) |
|
| EIF2AK1 |
Joshi Stephen (Maryland, United States), Vanesa Lerma (Houston, United States), Hsiao-Tuan Chao (Houston, United States) |
|
| EIF2AK2 |
Joshi Stephen (Maryland, United States), Vanesa Lerma (Houston, United States), Hsiao-Tuan Chao (Houston, United States) |
|
| EIF2S3 |
Martina Skopkova (Bratislava, Slovakia), An Dang Do (Bethesda, United States) |
|
| ELMO2 |
Nurten Akarsu (Ankara, Turkey), Arda Cetinkaya (Istanbul, Turkey) |
|
| ELOVL4 |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| ELOVL5 |
Barbara Borroni (Brescia, Italy), Alfredo Brusco (Torino, Italy) |
|
| EMC10 |
Ahmed Alfares (Riyadh, Saudi Arabia), Majid Alfadhel (Riyadh, Saudi Arabia), Muhammad Umair (Riyadh, Saudi Arabia) |
|
| EML1 |
Maarten Lequin (Utrecht, Netherlands), Renske Oegema (Utrecht, Netherlands) |
|
| ENPP1 | Carlos R. Ferreira (Washington, DC, United States) | |
| EOGT |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| ERAL1 |
Leigh A.M. Demain (Manchester, United Kingdom), William G. Newman (Manchester, United Kingdom) |
|
| ERI1 |
Maria Borroto (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| ERI1 Guo-Campeau type |
Maria Borroto (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| ERI1 Hoxha-Aliu syndrome |
Maria Borroto (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| ESAM |
Edoardo Errichiello (Pavia, Italy), Mauro Lecca (Pavia, Italy) |
|
| ETHE1 |
Valeria Tiranti (Milan, Italy), Ivano Di Meo (Milan, Italy), Costanza Lamperti (Milan, Italy) |
|
| EXOC6B |
Gandham Bhavani (Manipal, India), Swati Singh (Manipal), Katta Mohan Girisha (Udupi, India) |
|
| EXTL3 |
Machteld Oud (Nijmegen, Netherlands), Taco Kuijpers (Amsterdam, Netherlands) |
|
| EZH2 | Kate Tatton-Brown (London, United Kingdom) | |
| FAM111B |
Sandra Mercier (Nantes, France), Sébastien Küry (Nantes, France) |
|
| FAM149B1 |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| FBRSL1 |
Silke Pauli (Göttingen, Germany), Annette Borchers (Marburg, Germany) |
|
| FBXL4 |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| FBXO11 |
Lisenka Vissers (Nijmegen, Netherlands), Sandra Jansen (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
|
| FBXW7 |
Tiong Yang Tan (Melbourne, Australia), Calder Hamill (Clayton, Australia), Eleanor Ludington (Melbourne, Australia) |
|
| FGD1 |
Annick Toutain (Tours, France), Nathalie Ronce (Tours, France), Marie-Laure Vuillaume-Winter (Tours, France) |
|
| FGF14 |
Pablo Iruzubieta (San Sebastian, Spain), David Pellerin (Montreal, Canada), Matt Danzi (Miami, United States), Stephan Zuchner (Miami, United States), Bernard Brais (Montreal, Canada) |
|
| FIG4 |
Éliane Beauregard-Lacroix (Montreal, Canada), Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| FLCN |
Elżbieta Radzikowska (Poland), Aleksandra Jezela-Stanek (Warsaw, Poland) |
|
| FN1 |
Jade England (Montreal, Canada), Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| FN1 GFND2 |
Jade England (Montreal, Canada), Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| FN1-SMDCF |
Jade England (Montreal, Canada), Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| FOXP1 |
Bert Callewaert (Ghent, Belgium), Saskia Koene (Nijmegen, Netherlands) |
|
| FOXP2 |
Angela Morgan (Melbourne, Australia), Simon Fisher (Nijmegen, Netherlands) |
|
| FOXP3 |
Queenie K-G Tan (Durham, United States), Raymond J Louie (Greenwood, United States) |
|
| FOXRED1 |
Sofia Barbosa-Gouveia (Santiago de Compostela, Spain), Álvaro Hermida Ameijeiras (Santiago de Compostela, Spain) |
|
| FRMPD4 |
Meagan Collins (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| GABBR2 |
Yuri Zarate (Little Rock (AR), United States), Debopam Samanta (Little Rock, United States) |
|
| GAD1 |
Sarah Weckhuysen (Antwerp, Belgium), Homa Tajsharghi (Skövde, Sweden) |
|
| GATA3 |
Amin J. Barakat (Washington, DC, United States), Sajel Lala Kana (Miami, United States) |
|
| GINS3 |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| GLI2 |
Christèle Dubourg (Rennes, France), Sylvie Odent (Rennes, France), Alinoë Lavillaureix (Rennes, France) |
|
| GLRA2 |
Ronit Marom (Houston, United States), Michael F. Wangler (Houston, United States) |
|
| GLYCTK | Jörn Oliver Sass (Rheinbach, Germany) | |
| GM2A |
Jayesh Sheth (Ahmedabad, India), Aadhira Nair (Ahmedabad, India), Sheela Nampoothiri (Kochin, India), Chaitnya Datar (Pune, India) |
|
| GMNN | Ernie Bongers (Nijmegen, Netherlands) | |
| GMPPA | Christian A. Hübner (Jena, Germany) | |
| GNAI1 |
Petr Kuglik (Brno, Czech Republic), Marketa Wayhelova (Prague, Czech Republic) |
|
| GNB1 |
Kwame Anyane-Yeboa (New York, United States), Anya Revah-Politi (New York, United States) |
|
| GPAA1 |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| GPSM2 |
Mustafa Tekin (Miami, United States), Carson Smith (Miami, United States) |
|
| GPT2 |
Eric M. Morrow (Providence, United States), Brian C. Kavanaugh (Providence, United States) |
|
| GRIA1/GRIA2/GRIA3/GRIA4 | Allan Bayat (Dianalund, Denmark) | |
| GRIN1 |
Ilona Krey (Leipzig, Germany), Johannes Lemke (Leipzig, Germany) |
|
| GRIN2A |
Ilona Krey (Leipzig, Germany), Johannes Lemke (Leipzig, Germany) |
|
| GRIN2B |
Ilona Krey (Leipzig, Germany), Johannes Lemke (Leipzig, Germany) |
|
| GRIN2D |
Ilona Krey (Leipzig, Germany), Johannes Lemke (Leipzig, Germany) |
|
| GTPBP2 |
Elinaz Akbariazar (Urmia, Iran (Islamic Republic of)), Isa Rad (Urmia, Iran (Islamic Republic of)) |
|
| GUSB |
Roberto Giugliani (Porto Alegre, Brazil), Bibiana de Oliveira (Porto Alegre, Brazil), Tamires Alves (Porto Alegre, Brazil) |
|
| GZF1 |
Nisha Patel (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| HARS2 |
Leigh A.M. Demain (Manchester, United Kingdom), William G. Newman (Manchester, United Kingdom) |
|
| HCN1 |
Carla Marini (Florence, Italy), Christel Depienne (Essen, Germany) |
|
| HEATR5B | Martin Breuss (Aurora, United States) | |
| HERC1 |
Shagun Aggarwal (Hyderabad, India), Aneek Das Bhowmik (Hyderabad, India), Ashwin Dalal (Hyderabad, India) |
|
| HEY2 |
Eva van Walree (Amsterdam, Netherlands), Inge Mathijssen (Amsterdam, Netherlands) |
|
| HHAT |
Shruti Pande (Udupi, India), Katta Mohan Girisha (Udupi, India) |
|
| HID1 | Axel Weber (Marburg, Germany) | |
| HIST1H1E | Kate Tatton-Brown (London, United Kingdom) | |
| HIVEP2 |
Siddharth Srivastava (Boston, United States), Sakkubai Naidu (Baltimore, United States) |
|
| HNF1B |
J.H.F. de Baaij (Nijmegen, Netherlands), J.G.J. Hoenderop (Nijmegen, Netherlands) |
|
| HNMT |
Willem Verhoeven (Rotterdam, Netherlands), Jos Egger (Nijmegen, Netherlands) |
|
| HNRNPK | Petra Zwijnenburg (Amsterdam, Netherlands) | |
| HOXA1 |
Prince Jacob (Mysuru, India), SJ Patil (Bengaluru, India) |
|
| HPSE2 | William G. Newman (Manchester, United Kingdom) | |
| HSPD1 | Peter Bross (Aarhus, Denmark) | |
| IFT27 |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| IKBKG/NEMO |
Matilde Valeria Ursini (Naples, Italy), Francesca Fusco (Naples, Italy) |
|
| IL1RAPL1 | Carlo Sala (Milano, Italy) | |
| INTS1 | Anne Slavotinek (San Francisco, United States) | |
| IQSEC2 |
Tracy Dudding-Byth (Waratah, Australia), Cheryl Shoubridge (Adelaide, Australia), Jackie Boyle (Waratah, Australia), Jessica Radley (London, United Kingdom), Emma Palmer (Sydney, Australia) |
|
| IREB2 | David Amor (Melbourne, Australia) | |
| IRF2BPL |
Loren Pena (Cincinnati, United States), Vandana Shashi (Durham, United States), Becky Spillmann (Durham, United States), Paul C. Marcogliese (Houston, United States), Hugo Bellen (Houston, United States) |
|
| ISCA2 |
Namik Kaya (Riyadh, Saudi Arabia), Zuhair AlHassnan (Riyadh, Saudi Arabia), Mazhor S. Aldosary (Riyadh, Saudi Arabia), Dilek Colak (Riyadh, Saudi Arabia), Rawan Almass (Riyadh, Saudi Arabia), Maysoon Alsagob (Riyadh, Saudi Arabia) |
|
| JAG1 |
Melissa Gilbert (Philadelphia, United States), Nancy Spinner (Philadelphia, United States) |
|
| JARID2 |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| KANSL1 |
Evan Eichler (Seattle, United States), David Koolen (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
|
| KAT5 |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| KAT6B |
Gabrielle Lemire (Ottowa, Canada), Philippe Campeau (Montréal, Canada) |
|
| KAT8 |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| KCNA1 |
Aurora Pujol (Barcelona, Spain), Agusti Rodriguez-Palmero (Barcelona, Spain) |
|
| KCNA4 |
Namik Kaya (Riyadh, Saudi Arabia), Mohamed Al-Owain (Riyadh, Saudi Arabia), Dilek Colak (Riyadh, Saudi Arabia), Albandary AlBakheet (Riyadh, Saudi Arabia), Rawan Almass (Riyadh, Saudi Arabia), Maysoon Alsagob (Riyadh, Saudi Arabia) |
|
| KCNB1 | Rima Nabbout (Paris, France) | |
| KCNB2 |
Rikard Blunck (Montréal, Canada), Shreyas Bhat (Montréal, Canada), Philippe Campeau (Montréal, Canada) |
|
| KCNC1 |
Joohyun Park (Tübingen, Germany), Tobias B. Haack (Tübingen, Germany), Holger Lerche (Tübingen, Germany) |
|
| KCNC2 |
Yvonne Weber (Aachen, Germany), Stefan Wolking (Aachen, Germany) |
|
| KCNH1 | Michael Gabbett (Brisbane, Australia) | |
| KCNK9 |
John M. Graham Jr. (Los Angeles, United States), Margot A. Cousin (Rochester, United States), Emma L. Veale (Chatham Maritime, United Kingdom), Matthew Deardorff (Los Angeles, United States) |
|
| KCNN2 |
Fanny Mochel (Paris, France), Christel Depienne (Essen, Germany) |
|
| KCNN3 |
Lukáš Ryba (Prague, Czech Republic), Markéta Havlovicová (Prague, Czech Republic), Martin Schwarz (Prague, Czech Republic) |
|
| KCNQ2 |
Maurizio Taglialatela (Naples, Italy), Sarah Weckhuysen (Antwerp, Belgium) |
|
| KCNQ3 |
Maurizio Taglialatela (Naples, Italy), Sarah Weckhuysen (Antwerp, Belgium) |
|
| KCNT2 |
Arin Bhattacharjee (Buffalo, United States), Rebecca Macintosh (Sydney, Australia), Emma Palmer (Sydney, Australia) |
|
| KDELR2 |
Dimitra Micha (Amsterdam, Netherlands), Alessandra Maugeri (Amsterdam, Netherlands), Mariet Elting (Amsterdam, Netherlands), Marelise Eekhoff (Amsterdam, Netherlands) |
|
| KDM3B | Lex Dingemans (Nijmegen, Netherlands) | |
| KDM5A | Maria Chahrour (Dallas, United States) | |
| KDM5B |
Maria Borroto (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| KDM5B dominant |
Maria Borroto (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| KDM5B recessive |
Maria Borroto (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| KIAA1109 |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| KIF16B |
Ahmed Alfares (Riyadh, Saudi Arabia), Majid Alfadhel (Riyadh, Saudi Arabia), Muhammad Umair (Riyadh, Saudi Arabia) |
|
| KIF4A | Isabel Filges (Basel, Switzerland) | |
| KIF5A | Mohammed Faruq (New Delhi, India) | |
| KLHL24 | Cristina Has (Freiburg, Germany) | |
| KMT2B |
Kathleen Gorman (London, United Kingdom), Manju Kurian (London, United Kingdom) |
|
| KMT2E |
Anne O'Donnell Luria (Boston, United States), Emily Groopman (Washington DC, United States), Lynn Pais (Boston, United States) |
|
| LAMA5 |
Simone Sampaolo (Naples, Italy), Chiara Terracciano (Naples, Italy), Teresa Esposito (Naples, Italy), Filomena Napolitano (Naples, Italy), Marina Melone (Naples, Italy), Giovanni Iolascon (Naples, Italy) |
|
| LAMB1 Autosomal Dominant |
Hélène Morel (Paris, France), Dominique Herve (Paris, France) |
|
| LAMP2 | Matthew Taylor (Aurora, United States) | |
| LARP7 |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| LARS2 |
Leigh A.M. Demain (Manchester, United Kingdom), William G. Newman (Manchester, United Kingdom) |
|
| LHX2 |
Anne Gregor (Bern, Switzerland), Christiane Zweier (Bern, Switzerland) |
|
| LIFR |
Fernando Santos-Simarro (Madrid, Spain), Sofía Siccha Arancibia (Barcelona, Spain) |
|
| LINS1 |
Jayesh Sheth (Ahmedabad, India), Aadhira Nair (Ahmedabad, India), Harsh Sheth (Ahmedabad, India), Frenny Sheth (Ahmedabad) |
|
| LIS1 |
Renzo Guerrini (Florence, Italy), Elena Parrini (Florence, Italy) |
|
| LMAN2L |
Rafiullah Rafiullah (Riyadh, Saudi Arabia), Hazrat Ali Khan (Quetta, Pakistan) |
|
| LMNB1 |
Hilde Van Esch (Leuven, Belgium), Rich Steet (Greenwood, United States) |
|
| LRIG2 | William G. Newman (Manchester, United Kingdom) | |
| LRP2 |
Barbara R. Pober (Boston, United States), Mauro Longoni (Boston, United States) |
|
| LRPAP1 |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| LSS |
Thomas Besnard (Nantes, France), Bertrand Isidor (Nantes, France) |
|
| LZTR1 |
Miriam Smith (Manchester, United Kingdom), Gareth Evans (Manchester, United Kingdom) |
|
| MAGEL2 |
Michael Fountain (Houston, United States), Michael Fountain (Houston, United States), Megan Rech (Houston, United States), Christian Schaaf (Houston, United States) |
|
| MAN1B1 |
Halil Akar (Ankara, Turkey), Asburce Olgac (Ankara, Turkey), Sevil Dorum (Bursa, Turkey) |
|
| MBTPS2 |
Hakon Hakonarson (Philadelphia, United States), Alanna Strong (Philadelphia, United States) |
|
| MECP2 | Pinar Topaloglu (Istanbul, Turkey) | |
| MECP2 duplication | Hilde Van Esch (Leuven, Belgium) | |
| MED12 |
Michael Lyons (North Charleston, United States), Mike Friez (Greenwood, United States) |
|
| MED13 |
Flavio Faletra (Udine, Italy), Catia Mio (Udine, Italy) |
|
| MED13L |
Reza Asadollahi (London, United Kingdom), Anita Rauch (Schlieren-Zurich, Switzerland) |
|
| MEF2C |
Sofia Douzgou (Manchester, United Kingdom), Florence Riccardi (Marseille, France) |
|
| MEIS2 |
Andrea Gangfuß (Essen, Germany), Dorothea Schulte (Frankfurt, Germany), Maria J. Guillen Sacoto (Gaithersburg, United States) |
|
| MEOX1 |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| METTL23 | Mo Almannai (Riyadh, Saudi Arabia) | |
| MFF |
Hanan E Shamseldin (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| michel2017 |
Shahid ajmeri (AHMEDABAD, India), Ketan b, Michel Verbruggen (Druten west maas en waal, Netherlands) |
|
| MMUT | Jean-François Benoist (Paris, France) | |
| MN1 |
Chris Gordon (Paris, France), Christopher Mak (Hong Kong, Hong Kong), Brian Hon Yin Chung (Hong Kong, Hong Kong) |
|
| MORC2 | Maria J. Guillen Sacoto (Gaithersburg, United States) | |
| MPDZ |
Ranad Shaheen (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| MSL2 |
Maria Borroto (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| MSL3 |
Theresa Brunet (Munich, Germany), Matias Wagner (Munich, Germany) |
|
| MTOR |
Bill Dobyns (Seattle, United States), Ghayda Mirzaa (Seattle, United States) |
|
| MYCBP2 | Lama AlAbdi (Riyadh, Saudi Arabia) | |
| MYH2 | Homa Tajsharghi (Skövde, Sweden) | |
| MYH3 | Anna Hakonen (Helsinki, Finland) | |
| MYH3 autosomal dominant | Anna Hakonen (Helsinki, Finland) | |
| MYH3 autosomal recessive | Anna Hakonen (Helsinki, Finland) | |
| MYO18B |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| MYOD1 |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| MYT1L |
Björn Menten (Gent, Belgium), Alisdair McNeill (Sheffield, United Kingdom), Raghu Prajapati (AHMEDABAD, India), David Koolen (Nijmegen, Netherlands) |
|
| NAA10 | Gholson Lyon (Staten Island, New York, United States) | |
| NAA15 | Gholson Lyon (Staten Island, New York, United States) | |
| NAA20 |
Gianluca D'Onofrio (Genoa, Italy), Andrea Accogli (Montreal, Canada) |
|
| NACC1 |
Vandana Shashi (Durham, United States), Kelly Schoch (Durham, United States), Michael Wangler (Houston, United States) |
|
| NARS1 |
Stephanie Efthymiou (London, United Kingdom), Henry Houlden (London, United Kingdom) |
|
| NAXD |
Carole Linster (Parkville, Australia), Nicole van Bergen (Parkville, Australia), John Christodoulou (Melbourne, Australia) |
|
| NAXE |
Carole Linster (Parkville, Australia), Nicole van Bergen (Parkville, Australia), John Christodoulou (Melbourne, Australia) |
|
| NCOR2 | Philippe Campeau (Montréal, Canada) | |
| NDUFA6 |
Charlotte Alston (Newcastle upon Tyne, United Kingdom), Robert McFarland (Newcastle upon Tyne, United Kingdom), Robert Taylor (Newcastle upon Tyne, United Kingdom) |
|
| NDUFAF8 |
Charlotte Alston (Newcastle upon Tyne, United Kingdom), David J. Pagliarini (St Louis, United States), Robert McFarland (Newcastle upon Tyne, United Kingdom), Robert Taylor (Newcastle upon Tyne, United Kingdom) |
|
| NDUFB11 |
Brunella Franco (Naples, Italy), Alessia Indrieri (Naples, Italy) |
|
| NDUFS6 |
Cécile Rouzier (Nice, France), Annabelle Chaussenot (Nice, France) |
|
| NECAP1 |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| NEPRO |
Dhanya Narayan (Manipal, India), Katta Mohan Girisha (Udupi, India) |
|
| NEU1 |
Janina Gburek-Augustat (Leipzig, Germany), I-Chun Lee (Taichung, Taiwan) |
|
| NEUROG1 |
Jayesh Sheth (Ahmedabad, India), Aadhira Nair (Ahmedabad, India), Harsh Sheth (Ahmedabad, India), Frenny Sheth (Ahmedabad), Jhanvi Shah (Ahmedabad, India), Ketan Patel (Ahmedabad, India), Deepika Jain (Ahmedabad, India) |
|
| NF2 |
Miriam Smith (Manchester, United Kingdom), Gareth Evans (Manchester, United Kingdom) |
|
| NFASC |
Stephanie Efthymiou (London, United Kingdom), Henry Houlden (London, United Kingdom) |
|
| NFIA | Himanshu Goel (Newcastle, Australia) | |
| NFIB | Himanshu Goel (Newcastle, Australia) | |
| NFIX |
A Haseena Sait (Lucknow, India), Shubha R Phadke (Lucknow, India) |
|
| NGF | Geoffey Woods (Cambridge, United Kingdom) | |
| NKAP |
Kosuke Izumi (Philadelphia, United States), Alyssa Ritter (Philadelphia, United States) |
|
| NKX6-2 |
Viorica Chelban (London, United Kingdom), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| NPR2 | Mohammed Faruq (New Delhi, India) | |
| NR2F1 |
Danielle Bosch (Nijmegen, Netherlands), Christian Schaaf (Houston, United States) |
|
| NR5A1 |
Martine Cools (Ghent, Belgium), Elfride De Baere (Ghent, Belgium), Dorien Baetens (Ghent, Belgium) |
|
| NRROS |
Sue White (Melbourne, Australia), John Christodoulou (Melbourne, Australia) |
|
| NSD1 |
Kate Tatton-Brown (London, United Kingdom), Raghu Prajapati (AHMEDABAD, India) |
|
| NSRP1 |
Daniel Calame (Houston, United States), James R. Lupski (Houston, United States) |
|
| NTRK1 | Geoffey Woods (Cambridge, United Kingdom) | |
| NUBPL |
Peggy S. Eis (New York, United States), Eli Hatchwell (Oxfordshire, United Kingdom), Virginia Kimonis (Irvine, CA, United States), Birgitt Schuele (Stanford, CA, United States) |
|
| ODC1 |
André Bachmann (Grand Rapids, United States), Caleb Bupp (Grand Rapids, United States) |
|
| OFD1 | Brunella Franco (Naples, Italy) | |
| OTUD6B | ||
| OTX2 |
Julie Plaisancie (Toulouse, France), Nicolas Chassaing (Toulouse, France) |
|
| OXR1 |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| P4HTM |
Elisa Rahikkala (Oulu, Finland), Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| PACS1 |
Han Brunner (Nijmegen, Netherlands), Janneke Schuurs-Hoeijmakers (Nijmegen, Netherlands) |
|
| PANK2 |
Allison Gregory (Portland, United States), Susan Hayflick (Portland, United States), Alison Freed (Portland, United States) |
|
| PAX1 | SJ Patil (Bengaluru, India) | |
| PAX7 |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| PCDH19 |
Jozef Gecz (Adelaide, Australia), Kristy Kolc (Adelaide, Australia), Lynette Sadleir (Wellington, New Zealand), Emma Palmer (Sydney, Australia), Ingrid Scheffer (Melbourne, Australia) |
|
| PCGF2 |
Peter Turnpenny (Exeter, United Kingdom), Andrew Fry (Cardiff, United Kingdom) |
|
| PEPD |
Sarah Ossler (Middlefield, United States), Heng Wang (Middlefield, United States), Baozhong Xin (Middlefield, United States) |
|
| PERP recessive |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| PGAP1 |
Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
|
| PGM1 |
Eva Morava-Kozicz (Rochester), Silvia Radenkovic (Rochester, United States) |
|
| PHF5A |
Kerstin Kutsche (Hamburg, Germany), Frederike Harms (Hamburg, Germany), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
|
| PHGDH |
Ranad Shaheen (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| PHIP |
Shahid ajmeri (AHMEDABAD, India), Alexander Hoischen (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
|
| PI4KA |
Aurora Pujol (Barcelona, Spain), Agusti Rodriguez-Palmero (Barcelona, Spain) |
|
| PIEZO2 |
Brunhilde Wirth (Cologne, Germany), Raoul Heller (Auckland, New Zealand), Mert Karakaya (Cologne, Germany), Andrea Delle Vedove (Cologne, Germany) |
|
| PIGA |
Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
|
| PIGB |
Coralie Michaud (Montreal, Canada), Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
|
| PIGC |
Coralie Michaud (Montreal, Canada), Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
|
| PIGF |
Coralie Michaud (Montreal, Canada), Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
|
| PIGG |
Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
|
| PIGH |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| PIGK |
Coralie Michaud (Montreal, Canada), Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
|
| PIGL |
Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
|
| PIGM |
Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
|
| PIGN |
Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
|
| PIGP |
Coralie Michaud (Montreal, Canada), Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
|
| PIGQ |
Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
|
| PIGS |
Coralie Michaud (Montreal, Canada), Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
|
| PIGT |
Farhad Abbasi (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| PIGV |
Aleksandra Jezela-Stanek (Warsaw, Poland), Philippe Campeau (Montréal, Canada) |
|
| PIGW |
Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
|
| PIGY |
Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Philippe Campeau (Montréal, Canada) |
|
| PIK3CA |
Bill Dobyns (Seattle, United States), Ghayda Mirzaa (Seattle, United States) |
|
| PIK3R2 |
Bill Dobyns (Seattle, United States), Ghayda Mirzaa (Seattle, United States) |
|
| PLA2G6 |
Allison Gregory (Portland, United States), Susan Hayflick (Portland, United States), Alison Freed (Portland, United States) |
|
| PLOD3 |
Lisa Ewans (Sydney, Australia), Tony Roscioli (Kensington, Australia), David Sillence (Sydney, Australia), Frederico Forneris (Pavia, Italy) |
|
| POC1A |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| POC5 |
Anneke Vulto-van Silfhout (Nijmegen, Netherlands), Machteld Oud (Nijmegen, Netherlands) |
|
| POGZ |
Marjolein Willemsen (Nijmegen, Netherlands), Evan Eichler (Seattle, United States) |
|
| POLG | William Copeland (Durham, United States) | |
| POLG2 | William Copeland (Durham, United States) | |
| POLR2A |
Suzanne Lewis (British Columbia, Canada), Kristina Calli (British Columbia, Canada), Sydney Schulz (British Columbia, Canada) |
|
| POLR3GL |
Éliane Beauregard-Lacroix (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| PPFIA3 |
Claudia Cerezo (Houston, United States), Arden Wheeler (Houston, United States), Hsiao-Tuan Chao (Houston, United States) |
|
| PPM1D |
Cynthia Curry (Fresno, United States), Lennart Slagter (Nijmegen, Netherlands), Lisenka Vissers (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
|
| PPP1CB |
Regina Zambrano (New Orleans, United States), Michael Marble (Albuquerque, United States) |
|
| PPP2CA |
Lennart Slagter (Nijmegen, Netherlands), Lisenka Vissers (Nijmegen, Netherlands), Sandra Jansen (Nijmegen, Netherlands) |
|
| PPP3CA |
Saadet Mercimek-Andrews (Edmonton, Canada), John Pappas (New York, United States), Weimin Bi (Houston, United States) |
|
| PQBP1 | Hitoshi Okazawa (Tokyo, Japan) | |
| PRDM12 | Geoffey Woods (Cambridge, United Kingdom) | |
| PRDM16 |
Sabine Klaassen (Berlin, Germany), Jirko Kühnisch (Berlin, Germany) |
|
| PRICKLE1 |
Mario Mastrangelo (Rome, Italy), Vincenzo Leuzzi (Rome, Italy), Dario Esposito (Rome, Italy) |
|
| PRKAR1A |
Rachel Wurth (Maryland, United States), Fady Hannah-Shmouni (Maryland, United States), Fabio R. Faucz (Maryland, United States), Constantine A. Stratakis (Maryland, United States) |
|
| PRKAR1B |
Christian Schaaf (Houston, United States), Pilar Caro (Heidelberg, Germany) |
|
| PRMT7 |
Marcello Scala (Genoa, Italy), Reza Maroofian (London, United Kingdom), Elisa Calí (London, United Kingdom) |
|
| PRORP | William G. Newman (Manchester, United Kingdom) | |
| PRR12 | Weimin Bi (Houston, United States) | |
| PRUNE1 | Claudia Gonzaga-Jauregui (Tarrytown, United States) | |
| PSMC3 |
Sébastien Küry (Nantes, France), Stéphane Bézieau (Nantes, France), Frédéric Ebstein (Nantes, France), Elke Krüger (Greifswald, Germany) |
|
| PSMD12 |
Pawel Stankiewicz (Houston, United States), Bertrand Isidor (Nantes, France), Sébastien Küry (Nantes, France) |
|
| PTCHD1 |
John Vincent (Toronto, Canada), Ayeshah Chaudhry (Toronto, Canada) |
|
| PTPN23 |
Jannette Mailo (Alberta, Canada), Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| PUF60 | Hormos Dafsari (Cologne, Germany) | |
| PUM1 |
Jimmy Lloyd Holder (Houston, United States), Vincenzo Alessandro Gennarino (New York, United States), Emma Palmer (Sydney, Australia) |
|
| PURA |
Dierk Niessing (Munich/Ulm, Germany), Margot Reijnders (Maastricht, Netherlands), Jennifer Gordon (Philadelphia, United States), Diana Baralle (Southhampton, United Kingdom) |
|
| PUS3 |
Ranad Shaheen (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| PYCR1 | Dar-Shong Lin (Taipei, Taiwan) | |
| QRICH1 | Silke Redler (Düsseldorf, Germany) | |
| RAB11A |
Maria Borroto (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| RAC3 |
Valentin Ruault (Montpellier, France), Tiong Yang Tan (Melbourne, Australia) |
|
| RAP1GDS1 |
Ahmed Alfares (Riyadh, Saudi Arabia), Majid Alfadhel (Riyadh, Saudi Arabia), Muhammad Umair (Riyadh, Saudi Arabia) |
|
| RBM10 |
John Carey (Salt Lake City, United States), Colleen M. Carlston (San Francisco, United States) |
|
| RBM28 |
Filippo Pinto e Vairo (Rochester, United States), Susan Baserga (New Haven, United States) |
|
| RECQL1 | Grant Stewart (Birmingham, United Kingdom) | |
| RELN |
Lorenzo Perilli (Genoa, Italy), Pasquale Striano (Genoa, Italy) |
|
| RFX3 |
Timothy Yu (Boston, United States), Holly Harris (Houston, United States), Jenny Lai (Boston, United States) |
|
| RFX4 |
Timothy Yu (Boston, United States), Holly Harris (Houston, United States), Jenny Lai (Boston, United States) |
|
| RFX7 |
Timothy Yu (Boston, United States), Holly Harris (Houston, United States), Jenny Lai (Boston, United States) |
|
| RHOBTB2 |
Mitsuhiro Kato (Tokyo, Japan), Hirotomo Saitsu (Hamamatsu, Japan) |
|
| RIC1 |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| RLIM | Francisco Bustos (Sioux Falls, United States) | |
| RMND1 |
Catarina M. Quinzii (New York, United States), Emanuele Barca (New York, United States) |
|
| RNASET2 |
Jutta Gärtner (Göttingen, Germany), Marco Henneke (Göttingen, Germany), Matthias Kettwig (Göttingen, Germany) |
|
| RNF113A | Anne Slavotinek (San Francisco, United States) | |
| RNU12 |
Elizabeth Ross (New York, United States), Ji-Sun Kim (New York, United States), Alokkumar Jha (New York, United States), Rahul Kanadia (Storrs, United States) |
|
| RNU4ATAC |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| ROR2 |
A Haseena Sait (Lucknow, India), Shubha R Phadke (Lucknow, India) |
|
| RORA |
Laurent Pasquier (Rennes, France), Erica Davis (Durham, United States), Michel Koenig (Montpellier, France), Gaëtan Lesca (Lyon, France), Sébastien Küry (Nantes, France) |
|
| RPH3A |
Lisa Pavinato (Bellinzona, Switzerland), Alfredo Brusco (Torino, Italy) |
|
| RSPRY1 |
Maha A. Faden (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| RTTN |
Hanan E Shamseldin (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| RUSC2 | Ali Hassan Alwadei (Riyadh, Saudi Arabia) | |
| SACS | Benoit Gentil (Montreal, Canada) | |
| SARS1 | Jean-Marie Ravel (Nancy, France) | |
| SATB2 | Yuri Zarate (Little Rock (AR), United States) | |
| SCAPER | Tamar Ben-Yosef (Haifa, Israel) | |
| SCN11A | Geoffey Woods (Cambridge, United Kingdom) | |
| SCN1A |
Veronica Hood (Cherry Hill, United States), Vikram Bagchi (Ann Arbor, United States) |
|
| SCN2A |
Katherine Howell (Melbourne, Australia), Michael Hildebrand (Melbourne, Australia), Emma Palmer (Sydney, Australia) |
|
| SCN9A | Geoffey Woods (Cambridge, United Kingdom) | |
| SEC24D |
Keiichi Ozono (Osaka, Japan), Shinji Takeyari (Osaka, Japan) |
|
| SERAC1 |
Arjan Brouwer (Nijmegen, Netherlands), Saskia Wortmann (Nijmegen, Netherlands) |
|
| SERPINA1 | Aleksandra Jezela-Stanek (Warsaw, Poland) | |
| SET | Servi JC Stevens (Maastricht, Netherlands) | |
| SETBP1 | Evan Eichler (Seattle, United States) | |
| SETBP1 related developmental delay | Bregje Bon (Nijmegen, Netherlands) | |
| SETBP1 Schinzel-Giedion syndrome | Bregje Bon (Nijmegen, Netherlands) | |
| SHANK1 |
Richard Delorme (Paris, France), Gudrun A. Rappold (Heidelberg, Germany), Simone Berkel (Heidelberg, Germany), Thomas Bourgeron (Paris, France) |
|
| SHANK2 |
Gudrun A. Rappold (Heidelberg, Germany), Richard Delorme (Paris, France), Simone Berkel (Heidelberg, Germany), Thomas Bourgeron (Paris, France), Aria Batut (Paris, France) |
|
| SHANK3 |
Simone Berkel (Heidelberg, Germany), Richard Delorme (Paris, France), Gudrun A. Rappold (Heidelberg, Germany), Thomas Bourgeron (Paris, France), Aria Batut (Paris, France) |
|
| SHH |
Christèle Dubourg (Rennes, France), Sylvie Odent (Rennes, France), Alinoë Lavillaureix (Rennes, France) |
|
| SHMT2 |
Aurora Pujol (Barcelona, Spain), Agusti Rodriguez-Palmero (Barcelona, Spain) |
|
| SHOX2 |
Gudrun A. Rappold (Heidelberg, Germany), Sandra Hoffmann (Heidelberg, Germany) |
|
| SIK1 |
Bill Dobyns (Seattle, United States), Alex Paciorkowski (New York, United States) |
|
| SKI |
Dorien Schepers (Antwerp, Belgium), Bart Loeys (Antwerp, Belgium) |
|
| SLC12A6 |
Joohyun Park (Tübingen, Germany), Tobias B. Haack (Tübingen, Germany) |
|
| SLC16A1 | Jörn Oliver Sass (Rheinbach, Germany) | |
| SLC18A3 | Anna Hakonen (Helsinki, Finland) | |
| SLC25A22 | Florence Molinari (Marseille, France) | |
| SLC45A1 |
Myriam Srour (Montreal, Canada), Sarah Alsubhi (Montreal, Canada) |
|
| SLC6A1 | Katrine M. Johannesen (Copenhagen, Denmark) | |
| SLC6A9 |
Irene Mademont-Soler (Girona, Spain), Dolors Casellas-Vidal (Girona, Spain) |
|
| SLC9A1 | John Orlowski (Montreal, Canada) | |
| SLC9A3 | John Orlowski (Montreal, Canada) | |
| SLF2 | Grant Stewart (Birmingham, United Kingdom) | |
| SLITRK3 |
Stephanie Efthymiou (London, United Kingdom), Henry Houlden (London, United Kingdom) |
|
| SMAD3 |
Dorien Schepers (Antwerp, Belgium), Bart Loeys (Antwerp, Belgium) |
|
| SMARCA4 |
Gijs Santen (Leiden, Netherlands), Eline van der Sluijs (Leiden, Netherlands) |
|
| SMARCA5 |
Matthew Deardorff (Los Angeles, United States), Dong Li (Philadelphia, United States) |
|
| SMARCB1 |
Emma Clement (London, United Kingdom), Cristina Dias (London, United Kingdom) |
|
| SMARCC2 |
Vandana Shashi (Durham, United States), Keren Machol (Houston, United States), Philippe Campeau (Montréal, Canada) |
|
| SMARCD1 |
Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| SMARCE1 | Samantha A. Schrier Vergano (Norfolk, United States) | |
| SMC5 | Grant Stewart (Birmingham, United Kingdom) | |
| SMG8 |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| SMG9 |
Ranad Shaheen (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| SMS |
Angela Peron (Salt Lake City, United States), Charles E. Schwartz (Greenwood, United States) |
|
| SNX14 |
A Haseena Sait (Lucknow, India), Shubha R Phadke (Lucknow, India) |
|
| SON |
John Carey (Salt Lake City, United States), Eun-Young Erin Ahn (Mobile, United States), Lisenka Vissers (Nijmegen, Netherlands) |
|
| SOX4 |
Claudio Graziano (Bologna, Italy), Veronique Lefebvre (Philadelphia, United States) |
|
| SOX5 |
Christel Depienne (Essen, Germany), Alma Kuechler (Essen, Germany), Veronique Lefebvre (Philadelphia, United States) |
|
| SOX6 |
Cedric le Caignec (Toulouse, France), Veronique Lefebvre (Philadelphia, United States) |
|
| SPOP |
Maria Nabais Sá (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
|
| SPOP GoF |
Maria Nabais Sá (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
|
| SPOP LoF |
Lisenka Vissers (Nijmegen, Netherlands), Philip Jensik (Carbondale, United States), Maria Nabais Sá (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
|
| SPTAN1 |
Jun Tohyama (Niigata, Japan), Hirotomo Saitsu (Hamamatsu, Japan) |
|
| SRCAP | David Koolen (Nijmegen, Netherlands) | |
| SRCAP FLHS |
Jane Hurst (London, United Kingdom), Lara Menzies (London, United Kingdom) |
|
| SRRM2 | Silvestre Cuinat (Nantes, France) | |
| SSBP1 | William Copeland (Durham, United States) | |
| STAG1 |
Tinatin Tkemaladze (Tbilisi, Georgia), Kakha Bregvadze (Tbilisi, Georgia) |
|
| STAG2 | Sérgio D.J. Pena (Belo Horizonte, Brazil) | |
| STT3A |
Daisy Rymen (Leuven, Belgium), Matthew Wilson (Leuven, Belgium) |
|
| STXBP1 |
Mieke Haelst (Amsterdam, Netherlands), Matthijs Verhage (Amsterdam, Netherlands), Mala Misra-Isrie (Amsterdam, Netherlands), Jovana Kovacevic (Amsterdam, Netherlands) |
|
| SUCLA2 |
Ron A. Wevers (Nijmegen, Netherlands), Ulrike Steuerwald (Tórshavn, Faroe Islands), Carlo Dionisi-Vici (Rome, Italy) |
|
| SUCLG1 |
Cécile Rouzier (Nice, France), Annabelle Chaussenot (Nice, France) |
|
| SUPT16H | Emanuela Argilli (San Francisco, United States) | |
| SYT1 |
Kate Baker (Cambridge, United Kingdom), Anna Kolesnik-Taylor (Cambridge, United Kingdom) |
|
| TAF1 | Gholson Lyon (Staten Island, New York, United States) | |
| TAF2 | Boris Keren (Paris, France) | |
| TAF6 |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| TANC2 |
Alessandra Murgia (Padua, Italy), Elisa Bettella (Padua, Italy) |
|
| TANGO2 |
Kuntal Sen (Washington, DC, United States), Andrea L. Gropman (Washington, DC, United States) |
|
| TBC1D24 |
Sanjay Sisodiya (London, United Kingdom), Philippe Campeau (Montréal, Canada) |
|
| TBCK |
Xilma Ortiz-Gonzalez (Philadelphia, United States), Raghu Prajapati (AHMEDABAD, India), Elizabeth Bhoj (Philadelphia, United States) |
|
| TBR1 |
Olaf Bodamer (Boston, United States), Sophie Nambot (Dijon, France), Hannelore Ehrenreich (Göttingen, Germany) |
|
| TBX4 | Ernie Bongers (Nijmegen, Netherlands) | |
| TCOF1 |
Ariane Schmetz (Düsseldorf, Germany), Dagmar Wieczorek (Düsseldorf, Germany) |
|
| TDP2 | Keith Caldecott (Brighton, United Kingdom) | |
| TELO2 |
Claudia Ciaccio (Milan, Italy), Stefano D'Arrigo (Milan, Italy), Chiara Pantaleoni (Milan, Italy) |
|
| TGFB3 | Aline Verstraeten (Antwerp, Belgium) | |
| THOC2 |
Michael Field (Waratah, Australia), Jozef Gecz (Adelaide, Australia), Jackie Boyle (Waratah, Australia), Raman Kumar (Adelaide, Australia), Emma Palmer (Sydney, Australia) |
|
| THOC6 |
Gabrielle Lemire (Ottowa, Canada), Valeria Capra (Genova, Italy) |
|
| TIAM1 |
Wendy Chung (New York, United States), Shenzhao Lu (Houston, United States), Hugo Bellen (Houston, United States) |
|
| TMCO1 |
Heng Wang (Middlefield, United States), Baozhong Xin (Middlefield, United States), Bea Torres-Fults (Middlefield, United States) |
|
| TMEM126B |
Charlotte Alston (Newcastle upon Tyne, United Kingdom), Robert McFarland (Newcastle upon Tyne, United Kingdom), Robert Taylor (Newcastle upon Tyne, United Kingdom) |
|
| TMEM231 |
Ranad Shaheen (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| TMEM94 |
Joshi Stephen (Maryland, United States), Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| TMTC3 | Andre Megarbane (Beirut, Lebanon) | |
| TNIK |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| TOR1A | Homa Tajsharghi (Skövde, Sweden) | |
| TPI1 | Ferenc Orosz (Budapest, Hungary) | |
| TPP2 |
Isis Atallah (Lausanne, Switzerland), Andrea Superti-Furga (Lausanne, Switzerland) |
|
| TRAF7 | Roser Urreizti (Barcelona, Spain) | |
| TRAPPC4 |
Nicole van Bergen (Parkville, Australia), John Christodoulou (Melbourne, Australia) |
|
| TRAPPC9 |
Gul Unsel Bolat (Balikesir, Turkey), Hilmi Bolat (Balikesir, Turkey) |
|
| TRIO |
Konstantinos Varvagiannis (Athens, Greece), Lisenka Vissers (Nijmegen, Netherlands), Diana Baralle (Southhampton, United Kingdom), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
|
| TRIP12 |
Dagmar Wieczorek (Düsseldorf, Germany), Nuria Brämswig (Münster, Germany) |
|
| TRIP4 |
Ana Ferreiro (Paris, France), Isabelle Duband-Goulet (Paris, France), Rocío Nur Villar Quiles (Paris, France) |
|
| TRMT1 |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| TRRAP |
Benjamin Cogné (Nantes, France), Coralie Michaud (Montreal, Canada), Sébastien Küry (Nantes, France), Philippe Campeau (Montréal, Canada) |
|
| TSEN15 |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| TUBB2A |
Stefanie Brock (Brussels, Belgium), Anna Jansen (Antwerp, Belgium) |
|
| TULP3 | John A Sayer (Newcastle Upon Tyne, United Kingdom) | |
| TXNL4A | William G. Newman (Manchester, United Kingdom) | |
| UBAP1 |
Aurora Pujol (Barcelona, Spain), Agusti Rodriguez-Palmero (Barcelona, Spain) |
|
| UBR7 |
Éliane Beauregard-Lacroix (Montreal, Canada), Coralie Michaud (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| UFC1 |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| UFM1 |
Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| UGDH |
Bruno Reversade (Singapore), Saumya Shekhar Jamuar (Singapore) |
|
| UNC45A |
Laurence Faivre (Dijon, France), Caroline Racine (Dijon, France) |
|
| UNC80 |
Hanan E Shamseldin (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| UROC1 |
Rafael Artuch (Barcelona, Spain), Roser Urreizti (Barcelona, Spain) |
|
| USP27X | Francisco Bustos (Sioux Falls, United States) | |
| USP7 |
Christian Schaaf (Houston, United States), Pilar Caro (Heidelberg, Germany) |
|
| VPS13B |
Sarah Ossler (Middlefield, United States), Heng Wang (Middlefield, United States), Baozhong Xin (Middlefield, United States) |
|
| VPS13D |
Coralie Michaud (Montreal, Canada), Inge Meijer (Montreal, Canada), Philippe Campeau (Montréal, Canada) |
|
| WAC |
Konstantinos Varvagiannis (Athens, Greece), Lisenka Vissers (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
|
| WASF1 | Toshiyuki Yamamoto (Tokyo, Japan) | |
| WDFY3 |
Diana Le Duc (Leipzig, Germany), Konstantinos Zarbalis (Sacramento, United States), Rami Jamra (Leipzig, Germany) |
|
| WDR26 |
Cara Skraban (Philadelphia, United States), Matthew Deardorff (Los Angeles, United States) |
|
| WDR35 | Joanna Walczak-Sztulpa (Poznan, Poland) | |
| WDR45 |
Allison Gregory (Portland, United States), Susan Hayflick (Portland, United States) |
|
| WDR81 |
Ranad Shaheen (Riyadh, Saudi Arabia), Fadie D. Altuame (Boston, United States), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
|
| WNT10B |
Petit Florence (Lille, France), Brunelle Perrine (Lille, France) |
|
| WWOX | Rami Aqeilan (Jerusalem, Israel) | |
| YWHAG |
Michelle Demos (Vancouver BC, Canada), Malavika Hebbar (Vancouver BC, Canada), Shelin Adam (Vancouver BC, Canada) |
|
| YY1 |
Giuseppe Testa (Milan, Italy), Michele Gabriele (Milan, Italy), David Koolen (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
|
| ZBTB18 |
Sonja de Munnik (Nijmegen, Netherlands), Vyne van der Schoot (Rotterdam, Netherlands) |
|
| ZBTB20 | Toshiyuki Yamamoto (Tokyo, Japan) | |
| ZBTB7A |
Charlotte von der Lippe (Skien, Norway), Kristian Tveten (Skien, Norway) |
|
| ZDHHC9 |
Kate Baker (Cambridge, United Kingdom), Anna Kolesnik-Taylor (Cambridge, United Kingdom) |
|
| ZFHX4 |
Bert Callewaert (Ghent, Belgium), Sixto García-Miñaúr (Madrid, Spain), Sarah Vergult (Ghent, Belgium), Fernando Santos-Simarro (Madrid, Spain), María Palomares Bralo (Madrid, Spain) |
|
| ZIC1 |
Steve Twigg (Oxford, United Kingdom), Andrew Wilkie (Oxford, United Kingdom), Debbie Shears (Oxford, United Kingdom) |
|
| ZMYND11 |
Amelle Shillington (Cincinnati, United States), Jason Tchieu (Cincinnati, United States) |
|
| ZNF148 |
Abdallah F Elias (Montana, United States), Servi JC Stevens (Maastricht, Netherlands) |
|
| ZNF711 |
Frank Kooy (Antwerp, Belgium), Anke Van Dijck (Antwerp, Belgium) |
|
| ZSWIM6 |
Michael Field (Waratah, Australia), Jozef Gecz (Adelaide, Australia), Raman Kumar (Adelaide, Australia), Lucinda Murray (Sydney, Australia), Emma Palmer (Sydney, Australia) |