Clinical Utility Gene Card in 2018

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches

• Neringa Jurkute
• Anna Majander
• Patrick Yu-Wai-Man

CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63

• Ashley P. L. Marsh
• Gaia Novarino
• Richard J. Leventer

Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card

• Cynthia Yu-Wai-Man
• Gavin Arno
• Mariya Moosajee

CUGC for congenital primary aphakia

• Hajrah Sarkar
• William Moore
• Mariya Moosajee

Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease)

• David J. Coote
• Mark R. Davis
• Kristen J. Nowak

Clinical Utility Gene Card For: GALNT3 defective congenital disorder of glycosylation

• Jaak Jaeken
• Dirk J. Lefeber
• Gert Matthijs

Clinical utility gene card: for pseudoxanthoma elasticum

• Anne Legrand
• Karelle Benistan
• Juliette Albuisson

Clinical Utility Gene Card for: Becker muscular dystrophy

• David Coote
• Mark R. Davis
• Kristen J. Nowak

Clinical utility gene card for McArdle disease

• Rhonda L. Taylor
• Mark Davis
• Kristen J. Nowak

CUGC for Duchenne muscular dystrophy (DMD)

• David J. Coote
• Mark R. Davis
• Kristen J. Nowak