Clinical Utility Gene Card in 2010

Clinical utility gene card for: Deletion 22q13 syndrome

• Katy Phelan
• Catalina Betancur

Clinical utility gene card for: Retinoblastoma

• Dietmar Lohmann
• Brenda Gallie
• Marion Gauthier-Villars

Clinical utility gene card for: Bardet–Biedl syndrome

• Anne Slavotinek
• Philip Beales

Clinical utility gene card for: Silver–Russell syndrome

• Thomas Eggermann
• Karin Buiting
• I Karen Temple

Clinical utility gene card for: Wolf–Hirschhorn (4p-) syndrome

• Agatino Battaglia
• Sarah South
• John C Carey

Clinical utility gene card for: Laing distal myopathy

• Phillipa Lamont
• William Wallefeld
• Nigel Laing

Clinical utility gene card for: hypophosphatasia

• Etienne Mornet
• Christine Beck
• Martine Le Merrer

Clinical utility gene card for: Axenfeld–Rieger syndrome

• Nicole Weisschuh
• Elfride De Baere
• Zeynep Tümer

The EuroGentest Clinical Utility Gene Cards

• Jörg Schmidtke
• Jean-Jacques Cassiman

Rubinstein–Taybi syndrome (CREBBP, EP300)

• Martine van Belzen
• Oliver Bartsch
• Raoul C M Hennekam

Clinical utility gene card for: Lesch–Nyhan syndrome

• Rosa J Torres
• Juan G Puig
• Irène Ceballos-Picot

Clinical utility gene card for: Holoprosencephaly

• Christèle Dubourg
• Véronique David
• Erich Roessler

Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP

• Stefan Aretz
• Bernd Rautenstrauß
• Vincent Timmerman

Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis

• Stefan Aretz
• Frederik J Hes

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

• Mine Arslan-Kirchner
• Eloisa Arbustini
• Laurence Faivre

Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII

• Karin Mayer
• Ingo Kennerknecht
• Beat Steinmann

Clinical utility gene card for: Haemochromatosis [HFE]

• Manfred Stuhrmann
• Heinz Gabriel
• Stephen Keeney

Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1)

• Eberhard Schwinger
• Koen Devriendt
• Nicole Philip

Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2)

• Nils Rahner
• Verena Steinke
• Pierre Hutter