Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

J Med Genet. 2022 Apr;59(4):366-369. doi: 10.1136/jmedgenet-2020-107528. Epub 2021 Feb 5.

Vassilis Ragoussis^{1

2}, Alistair T Pagnamenta^{3

2}, Rebecca L Haines⁴, Edoardo Giacopuzzi^{1

2}, Martin A McClatchey^{5

6}, Julian R Sampson^{5

6}, Mohnish Suri⁷, Alice Gardham⁸, Jan-Maarten Cobben^{8

9}, Deborah Osio¹⁰, Andrew E Fry^{5

6}; Genomics England Research Consortium; Jenny C Taylor^{1

2}

Genomics England Research Consortium:
J C Ambrose, P Arumugam, E L Baple, M Bleda, F Boardman-Pretty, J M Boissiere, C R Boustred, H Brittain, M J Caulfield, G C Chan, C E H Craig, L C Daugherty, A de Burca, A Devereau, G Elgar, R E Foulger, T Fowler, P Furió-Tarí, J M Hackett, D Halai, A Hamblin, S Henderson, J E Holman, T J P Hubbard, K Ibáñez, R Jackson, L J Jones, D Kasperaviciute, M Kayikci, A Kousathanas, L Lahnstein, K Lawson, S E A Leigh, I U S Leong, F J Lopez, F Maleady-Crowe, J Mason, E M McDonagh, L Moutsianas, M Mueller, N Murugaesu, A C Need, C A Odhams, C Patch, M B Pereira, D Perez-Gil, D Polychronopoulos, J Pullinger, T Rahim, A Rendon, P Riesgo-Ferreiro, T Rogers, M Ryten, K Savage, K Sawant, R H Scott, A Siddiq, A Sieghart, D Smedley, K R Smith, S C Smith, A Sosinsky, W Spooner, H E Stevens, A Stuckey, R Sultana, E R A Thomas, S R Thompson, C Tregidgo, A Tucci, E Walsh, S A Watters, M J Welland, E Williams, K Witkowska, S M Wood, M Zarowiecki

¹ Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, UK.
² NIHR Biomedical Research Centre, Oxford, UK.
³ Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, UK alistair@well.ox.ac.uk.
⁴ East Midlands Regional Molecular Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.
⁵ Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
⁶ Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK.
⁷ Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.
⁸ North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, London, UK.
⁹ Department of Pediatrics, Amsterdam University Medical Centres, Duivendrecht, Noord-Holland, Netherlands.
¹⁰ West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.

No abstract available

Keywords: central nervous system diseases; epilepsy; genetic techniques; germ-line mutation; sequence alignment.

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