British Society for Genetic Medicine

BSGM 2014 22 - 24 September Arena and Convention Centre

Liverpool

Programme Conference Website http://bsgm2014.bshgconferences.org.uk/ British Society for Genetic Medicine also known as the British Society for Human Genetics Registered Charity Number: 1058821

Sunday 21 September 2014 17:00-20:00

REGISTRATION

17:00-18:30

BSGM Council Meeting Room 10

Monday 22 September 2014 07:30

REGISTRATION

09:00-10:30 Concurrent Educational Session: Disorders of Primary Cilia Chair: Dr Denise Williams / Dr Mohnish Suri

Room: Auditorium 1A

09:00 (SP01) Overview of the Primary Ciliopathies - Professor Phil Beales (London)

10:15 (SP04) Risk stratification and therapeutic targeting in Bardet-Biedl Syndrome - Dr Elizabeth Forsythe (London)

09:00-10:30 Concurrent Educational Session: Genetic Counselling Chair: Dr Rhona Macleod

Room: Auditorium 1B

09:00 (SP05) Working with Ambivalence in the Genetic Counselling Consultation - Ms Clare Baguley (Manchester)

09:00-10:30 Concurrent Educational Session: Cancer Genetics Chair: Dr Angela Brady/ Dr Lucy Side

Room: Auditorium 1C

09:00 (SP06) Renal Cancer Genetics: A Paradigm for Personalised Medicine - Dr Fiona Thistlethwaite (Manchester) 09:20 (SP07) BAP1 mutations and uveal melanoma - Ms Hima Anbunathan (London) 09:40 (SP08) Processes for investigation of somatic mutations - Dr Emma Howard (Manchester) 10:00

Difficult Cases

09:00-10:30 Concurrent Educational Session: CNV and SNV interpretation workshop Room: 11

09:00 (SP09) Whole exome sequence analysis - Dr Carolyn Tysoe (Devon/Exeter) 09:30 (SP10) Chromosomal Microarray – CNV analysis - Mrs Deborah Morrogh (GOSH, London) 10:00

10:50

Cases Discussion and Questions and Answers

CHAIR’S WELCOME by Mrs Angela Douglas Room: Auditorium 1A BSGM 2014

PROGRAMME

09:25 (SP02) Abnormalities of the Central Nervous System across the Ciliopathy Spectrum - Dr Kate Baker (Cambridge) 09:50 (SP03) Skeletal Ciliopathies - Dr Miriam Schmidts (London)

11:00-13:00 Opening Symposium: UK Genomics Chair: Professor Sir John Burn / Professor Anneke Lucassen

Room: Auditorium 1A

11:00 (SP11) 100,000 Genome Project - Professor Mark Caulfield (Genomics England) 11:20 (SP12) The UK Personal Genome Project (PGP-UK) - Professor Stephan Beck (London) 11:50 (SP13) British Autozygosty Project - Professor David Van Heel (London) 12:10 (SP14) Monogenic skin disease and next generation sequencing - Professor John McGrath (London) Questions and Answers 12:40 13:00-14:00

LUNCH - Hall 2, Exhibition CGG steering group Meeting Room: 11B

13:10-13:50

Corporate Seminar - Cartagenia Room: 2F Speaker: Dr Erik Sistermans (VU University Medical Center, the Netherlands) “Introducing NGS in Genome Diagnostics”

13:10-13:50

Corporate Seminar - Oxford Gene Technology Room: 2N Speaker: Dr Michael Davies (University of Liverpool Cancer Research Centre, Liverpool) “Application of the SureSeq™ Solid Tumour Panel Sequencing Service to a panel of FFPE samples of Non Small Cell Lung Cancer from the Liverpool Lung Project” Speaker: Dr Manisha Maurya (Royal Marsden Hospital NHS Trust/Institute of Cancer Research) “ALK FISH testing in Non-Small Cell Lung Cancer”

13:15-14:00

Genetic Counsellor Regulation Update Room: 11C

13:30-14:00

SPR Meeting Room: 11A

14:00-15:15 Concurrent Sessions Cancer Chair: Dr Julian Adlard / Dr Helen Hanson

Room: Auditorium 1A

14:00 (SP15) LZTR1 adds to the complex heterogeneity of schwannomatosis - Dr Miriam Smith, B Isidor, C Beetz, SG Williams, SS Bhaskar, W Richer, J OSullivan, B Anderson, SB Daly, JE Urquhart, A Fryer, CF Rustad, SJ Mills, A Samii, D du Plessis, D Halliday, S Barbarot, F Bourdeaut, WG Newman, DGR Evans 14:15 (SP16) Investigating the genetic basis of multiple primary tumors. Clinical and gene panel analyses - Dr James Whitworth, J Hoffmann, A Skytte, ER Maher 14:30 (SP17) Germline mutations in SUFU cause Gorlin syndrome and redefine the risk associated with childhood medulloblastoma - Professor Bill Newman, DGR Evans, MJ Smith, C Beetz, S Williams, SS Bhaskar, J OSullivan, JE Urquhart, B Anderson, Z Bholah, SB Daly, D Oudit, A Kelsey, M McCabe 14:45 (SP18) Germline mutations in Fumarate Hydratase presenting with Phaeochromocytoma - Dr Graeme Clark, M Sciacovelli, E Guade, DM Walsh, G Kirby, MA Simpson, RC Trembath, JN Berg, ER Woodward, E Kinning, PJ Morrison, C Frezza, ER Maher 15:00 (SP19) 2014 CGS National Audit: An audit of Wilms tumour surveillance in children with BeckwithWiedemann syndrome and isolated hemihypertrophy - Dr Jane Hurst, RH Scott, S Greville-Heygate BSGM 2014

PROGRAMME PROGRAMME

13:00-14:00

Genomics Chair: Dr Trevor Cole / Dr Ingrid Simonic

Room: Auditorium 1B

14:00 (SP20) The Deciphering Developmental Disorders Study - Dr Caroline Wright 14:15 (SP21) Non-syndromic Intellectual Disability: Analysis of 565 Genes in 1000 Individuals - Dr Lucy Raymond, D Grozeva, K Carss, O Spasic-Boskovic, A Hackett, M Field, J Gecz, A Renieri, MI Tejada, C Schwartz, JAB Floyd, M Hurles, UK10K Consortium

15:00 (SP24) 10 years of the DECIPHER project: Maximising interpretation through customised sharing - Dr Jawahar Swaminathan, E Bragin, EA Chatzimichali, AP Bevan, C Wright, ME Hurles, HV Firth

PND Chair: Dr Laura Boyes / Dr Ann Dalton Room: Auditorium 1C 14:00 (SP25) Development and validation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS diagnostic laboratory - Ms Fiona McKay, K Lo, S Mason, C Boustred, L Jenkins, N Lench, V Plagnol, L Chitty

14:15 (SP26) Offering NIPT for Down syndrome in a National Health Service Clinical Setting - Experience of Patients in the UK - Dr Celine Lewis, M Hill, R Daley, LS Chitty 14:30 (SP27) Introducing a prenatal array CGH service into a diagnostic genetics laboratory - Our experience in Oxford - Mrs Joanna Roberts, C Noakes, O Wilcox, D Cilliers, C Campbell 14:45 (SP28) Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities - Prof Lynn Chitty, N Trump, C Boustred, N Lench, R Scott, S Drury 15:00 (SP29) Preimplantation genetic diagnosis for mitochondrial DNA disease - Prof Robert Taylor, CL Alston, EL Blakely, L Craven, L Irving, S Byerley, M Herbert, DM Turnbull, R McFarland, JA Stewart

15:15-15:45

REFRESHMENT BREAK – Hall 2, Exhibition

BSGM 2014

PROGRAMME

14:30 (SP22) Comparative analysis of genome-wide association data reveals opposing genetic risk mechanisms in inflammatory skin diseases - Dr Sara Brown, H Baurecht, M Hotze, J Barker, P Cormican, A Corvin, JT Elder, E Ellinghaus, J Esparza-Gordillo , A Franke, C Gieger, AD Irvine, M Kabesch, YA-E Lee , W Lieb, WHI McLean, D Morris, N Novak, S Smith, K Strauch, R Trembath, Wellcome Trust Case Collection, S Weidinger, HJ Cordell 14:45 (SP23) Combined exome and targeted NGS gene panel identifies mutations in CCDC151 as a cause of Primary Ciliary Dyskinesia - Dr Hannah Mitchison, Alexandros Onoufriadis, H Hjeij, CM Watson, CE Slagle, N Klena, M Kurkowiak, NT Loges, GW Dougherty, CP Diggle, G Gabriel, Lemke, Y Li, P Pennecamp, T Menchen, JK Martin, C Werner, T Burgoyne, A Rutman, IM Carr, C OCallaghan, E Moya, EMK Chung, , E Sheridan, KG Nielsen, Burdine, CW Lo, H Omran

15:45-17:15 Concurrent Symposia: DDD Complementary Research Projects Chair: Mrs Angela Douglas / Dr Jane Hurst

Room: Auditorium 1A

15:45 (SP30) DDD Complementary Research Projects: Setting the Scene - Dr Caroline Wright (Cambridge) 16:15 (SP31) SYNGAP1 Causes both Syndromal and Non-syndromal Intellectual Disability - Dr Michael Parker (Sheffield) 16:45 (SP32) Genetics of OroFacial Clefting Study (GOFCS) : Identification of novel causative genetic variants in syndromic orofacial clefting - Dr Rita Ibitoye (Oxford)

15:45-17:15 Concurrent Symposia: NHS Clinical Bioinformatics Working Group Chair: Dr Joo Wook Ahn / Mr Andrew Devereau

Room: Auditorium 1B

15:45-17:15 Concurrent Symposia: Cancer Genetics Chair: Dr Fiona Lalloo / Dr Emma Woodward

Room: Auditorium 1C

15:45 (SP34) Familial AML and MDS: Where we are and where are we headed? - Professor Jude Fitzgibbon (London) 16:05 (SP35) DICER1 and miRNA processing - a common link for some rare cancers - Dr Mark Tischkowitz (Cambridge) 16:25 (SP36) NSD1, EZH2 and DNMT3A overgrowth genes and their associated overgrowth syndromes - Dr Kate Tatton-Brown (London) 16:45 (SP37) Update Clinical Management Retinoblastoma - Dr Trevor Cole (Birmingham) 17:00 (SP38) The Molecular Investigation of Retinoblastoma - Dr Simon Ramsden (Manchester) 17:15-17:30

MINI BREAK

17:30

BRITISH SOCIETY FOR GENETIC MEDICINE (BSGM) Annual General Meeting – Room: Auditorium 1A

18:00-19:00

WINE TASTING – Hall 2, Exhibition

19:00-20:30 Public Great Debate Introduction: Dr Anna Middleton

Room: Auditorium 1A

Chair: Dr Caroline Wright “This house believes the time has come for opportunistic genomic screening each time a genome is sequenced for diagnostic purposes”

Debators: Professor Sir John Burn (Newcastle) and Dr Christine Patch (London) BSGM 2014

PROGRAMME

15:45 (SP33) Analysis pipelines for clinical diagnostics: considerations and challenges - Dr Michael Simpson (London) Clinical bioinformatics working group discussion on "Clinical implementation of NGS"

Tuesday 23 September 2014 07:30

REGISTRATION

08:00-9:00

Meeting Room: 10

09:00-10:30 Concurrent Symposia: UKGTN and New Genetic Testing Services Chair: Professor Sian Ellard / Dr Fiona Stewart

Room: Auditorium 1A

09:00 (SP39) Introduction to UKGTN - Mrs Jacquie Westwood (London) 09:10 (SP40) The Genetic Test Evaluation Process - Dr Fiona Stewart (Belfast) 09:20 (SP41) Clinical Utility and outcome of Genetic testing - Dr Shehla Mohammed (London)

10:00 (SP45) Genetic Testing Rates 2011/12 - Mrs Jane Deller (London) 10:10 (SP46) UKGTN and New Genetic Testing Services: Influencing Commissioning - Mrs Jacquie Westwood (London) 10:20 Questions and Answers

09:00-10:30 Concurrent Symposia: Clinical Trials, Counselling challenges and Expectations of NGS: meeting the needs of young people Chair: Dr Vishakha Tripathi / Ms Carrie Hammond

Room: Auditorium 1B

09:00 (SP47) Young people and sequencing technologies: confusion and clarity - Dr Anna Middleton (Cambridge) 09:30 (SP48) Clinical trials for young people with rare genetic diseases – growing experience and challenges - Dr Catherine Breen (Manchester) 10:00 (SP49) Karyotypes and Mutations: Why Genetics in Disorders of Sex Development Matter - Dr Vicki Pasterski (Cambridge)

09:00-10:30 Concurrent Symposia: Impact of Genomics in the Developing World Chair: Professor Dhavendra Kumar / Professor Ruth Chadwick

Room: Auditorium 1C

09:00 (SP50) Strategic developments on genomics in developing world - Professor Dhavendra Kumar (Cardiff) 09:20 (SP51) Developments in Large Scale Disease-related Genomics Research in Africa - Professor Raj Ramesar (South Africa) 09:40 (SP52) The role of genomics in addressing global food security: What will be its impact in developing countries? - Professor Denis Murphy (South Wales) 10:00 (SP53) Prevention of common microbial infections in developing countries - Dr Ankur Mutreja (Novartis, Italy) 10:20 Questions and Answers

10:30-11:00

REFRESHMENT BREAK - Hall 2, Exhibition BSGM 2014

PROGRAMME PROGRAMME

09:30 (SP42) Steroid resistant nephrotic syndrome (SRNS): UKGTN NGS panel testing to direct therapy and intervention - Mrs Maggie Williams (Bristol) 09:40 (SP43) The development of a next generation sequencing panel for neuropathy, epilepsy, hereditary spastic paraplegia and related - Dr David Gokhale (Liverpool) 09:50 (SP44) Audit of Testing Activity and Costs - Dr Jo Whittaker (London)

11:00-12:30 Concurrent Education Session: Practical Research in Genetic Healthcare NIHR Clinical Research Network: Genetics Chair: Dr Diana Baralle / Dr Shane McKee

Room: Auditorium 1B

11:00 (SP54) Insignia: Investigating mutation signatures in genetic disorders 11:15 - Dr Serena Nik-Zainal (Cambridge) (SP55) A Study of Adults and Adolescents with Russell Silver Syndrome in the UK (STAARS UK) 11:30 - Dr Kemi Lokulo-Sodipe (SP56) How do we manage Juvenile Huntington’s Disease? - Dr Oliver Quarrell (Sheffield) 11:45 (SP57) Genomic Investigations: Health Care Professional (HCP) and Family Experiences of Managing Incidental Information in Clinical Practice - Dr Gillian Crawford (Southampton) 12:00 (SP58) Advances in the molecular prenatal diagnosis of chromosomal and genetic disorders - Professor Lynn Chitty (London) 12:15 (SP59) Treatment in Genetics - Professor Sir John Burn (Newcastle)

11:00-12:30 Concurrent Education Session: Genomics Education Programme

Chair: Mrs Val Davison

Room: Auditorium 1C

Health Education England: Developments in the Genomics Education Programme for NHS healthcare professionals This education session aims to raise the awareness of the genomics education programme, showcase some of the resources and describe how we are currently engaging with healthcare professionals to develop the appropriate education and training resources that will enable them to work/perform confidently in the genomics arena. These resources will include awareness raising videos, new MSc programmes, eLearning modules, symposia and workshops and many other innovative methods. The session will also focus on the applications of genomics in improving healthcare in the NHS; introduce the new genomics education website and the current education resources available; take a detailed look at the work of the Clinical Bioinformatics task and finish group in relation to educational needs of this workforce; and also look at how this training is being done in other countries.

(SP60) An introduction to Health Education England and the genomics Education Programme - Professor Sue Hill (HEE) (SP61) Educational Resources - Dr Anneke Seller (Oxford) / Mrs Val Davison (Birmingham) (SP62) Clinical Bioinformatics - Professor Sian Ellard (Exeter) 11:00-12:30

IT Leads Meeting Room: 11A

12:30-13:30

LUNCH - Hall 2, Exhibition

12:40-13:20

Corporate Seminar - Agena Bioscience GmbH Room: 2F Speaker: Mr Malcolm Plant (Agena Bioscience) “Getting the Right Answer, Quickly – Agena's MassARRAY in Molecular Diagnostics”

12:45-13:45

UKGTN Scientific Advisors Meeting Room: 10

13:00-15:00

Lead Clinicians Meeting Room: 11A

13:00-15:00

Genetic Managers Meeting Room: 2N

13:30-15:00

POSTER VIEWING & TRADE EXHIBITION Hall 2, Exhibition INC. REFRESHMENT BREAK

BSGM 2014

PROGRAMME

Health Education England

15:00-16:30 Plenary Session – to include Late Breaking Research Chair: Mr Dominic McMullan / Dr Adam Shaw

Room: Auditorium 1A

15:00 (SP63) Compound heterozygosity of low-frequency promoter deletion and rare loss-of-function mutations in TXNL4A alters spliceosome assembly and causes Burn-McKeown syndrome - Professor William Newman, D Wieczorek, T Wieland, T Berulava, M Kaffe, D Falkenstein, C Beetz, S Douzgou, J Clayton-Smith, JE Urquhart, S Williams, SS Bhaskar, SB Daly, B Anderson, O Boute, E Graf, AJ van Essen, F Hazan, A Hing, A Kuechler, J Lemke, C Marques Lourenco, U Hehr, B Horsthemke, T Meitinger, J Burn, H-J Lüdecke, T Strom, R OKeefe

15:45 (LB01) Exome sequencing identifies two new Wilms tumor predisposition genes - Dr Sandra Hanks, S Seal, SS Mahamdallie, E Ruark, ER Perdeaux, E Ramsay, S Del Vecchio Duarte, FACT consortium, N Rahman 16:00 (LB02) Introducing an affordable and practical alternative to whole exome sequencing into diagnostic service - Dr Stephen Abbs, H Martin, K Brugger, F Rodger, R Littleboy, I Delon, G Sagoo, SG Mehta, SM Park, R Armstrong, G Woods, S Holden, M Kroese, R Sandford, E Maher 16:15 (LB03) Whole exome sequencing with virtual panel analysis for molecular diagnosis in the genetics clinic - Dr Ellen Thomas, Y Patel, S Lillis, M Irving, M Holder-Espinasse, C Deshpande, D Josifova, L Robert, L Izatt, F Flinter, A Saxena, C Ogilvie, G Norbury, J Ahn, M Yau, S Mohammed, M Simpson 16:30-16:45

MINI BREAK

16:45-17:45 Carter Lecture Chair: Professor Jill Clayton-Smith

Room: Auditorium 1A

16:45 (SP66) The Genetic Structure of the British Population - Sir Walter Bodmer (Oxford) 17:45

ASSOCIATION FOR CLINICAL GENETIC SCIENCE (ACGS) Annual General Meeting Room: Auditorium 1B

19:00

Invited Speakers Drinks Reception – Upper Level Balcony

19:30-Late

CONFERENCE DINNER & DANCE Upper Level Foyer, Drinks Reception from 19:30 Room: 3, Conference Dinner & Dance 20:00 BSGM 2014

PROGRAMME

15:15 (SP64) Inherited loss-of-function mutations in PALB2 and breast cancer risk - Dr Marc Tischkowitz, S Casadei, T Heikkinen, D Barrowdale, K Pylkäs, J Roberts, A Lee, D Subramanian, K De Leeneer, F Fostira, T Tomiak, SL Neuhausen, ZL Teo, S Khan, K Aittomäki, JS Moilanen, C Turnbull, S Seal, A Mannermaa, A Kallioniemi, GJ Lindeman, SS Buys, IL Andrulis, P Radicec Tondini, S Manoukian, AE Toland,P Miron, kConFab, JN Weitzel, S Domchek, B Poppe, KB Claes, D Yannoukakos, P Concannon, JL Bernstein, PA James, DF Easton, DE Goldgar, JL Hopper, N Rahman, P Peterlongo, H Nevanlinna, MC King, FJ Couch, MC Southey,R Winqvist, WD Foulkes, AC Antoniou 15:30 (SP65) De novo mutations in CCND2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome - Dr Andrew Fry, GM Mirzaa, DA Parry, KA Giamanco, J Schwartzentruber, M Vanstone, CV Logan, N Roberts, CA Johnson, S Singh, SS Kholmanskikh, C Adams, RD Hodge, RF Hevner, DT Bonthron, KPJ Braun, L Faivre, JB Rivière, J St-Onge, KW Gripp, GMS Mancini, K Pang, E Sweeney, H van Esch, Verbeek, D Wieczorek, M Steinraths, J Majewski, FORGE Canada Consortium, KM Boycott, DT Pilz, ME Ross, WB Dobyns, EG Sheridan

Wednesday 24 September 2014 07:30

REGISTRATION

09:00-09:45 Symposium: TBC Chair: Dr Marc Tischkowitz

Room: Auditorium 1A

09:00 (SP67) - Professor Steve Narod (Canada)

Chair: Dr Eleanor Wheeler

Room: Auditorium 1A

10:00 (SP68) The UK10K study - Dr Valentina Iotchkova (Cambridge) 10:30 (SP69) The UK BiLEVE study: the first genetic study in UK Biobank identifies novel regions associated with airway obstruction phenotypes using a custom genome-wide array in 50,000 individuals - Dr Louise Wain (Leicester) 11:00 (SP70) Genome sequencing of European type 2 diabetes cases and controls - Dr Kyle Gaulton (Oxford)

10:00-11:15 Concurrent Symposia: Dermatogenetics Chair: Professor Irwin McLean / Professor Sir John Burn

Room: Auditorium 1B

10:00 (SP71) Introducing Dermatogenetics: Genetics for Dermatologists - Dr Neil Rajan (Newcastle) 10:15 (SP72) Introducing Dermatogenetics: Dermatology for Geneticists - Dr Sara Brown (Dundee) 10:30 (SP73) Back to Blaschko: lessons from cutaneous mosaicism - Professor Celia Moss (Birmingham)

10:00-11:15 Concurrent Symposium: Molecular Pathology Chair: Ms Rachel Butler / Dr Pauline Rehal

Room: Auditorium 1C

10:00 (SP74) NGS; applications in Clinical Molecular Patholgy - Ms Rachel Butler (Cardiff) 10:30 (SP75) Molecular selection of therapy in metastatic colorectal cancer: a molecularly stratified randomised controlled trial programme - Dr Kai-Keen Shiu (London) 11:00 (SP76) MATRIX trial; lung cancer - Professor Gary Middleton (Birmingham)

11:15-11:45

REFRESHMENT BREAK - Hall 2, Exhibition

BSGM 2014

PROGRAMME

10:00-11:15 Concurrent Symposia: Next generation association studies for complex traits

11:45-12:45 Concurrent Sessions Clinical Genetics Chair: Dr Emma Wakeling / Dr Dragana Josifova

Room: Auditorium 1A

11:45 (SP77) Temple syndrome: introducing a new name for an under-diagnosed chromosome 14 imprinting disorder - Dr Kemi Lokulo-Sodipe, Y Ioannides, JH Davies, IK Temple 12:00 (SP78) ZDHHC9 mutations cause an X-linked intellectual disability phenotype intersecting with the rolandic epilepsy spectrum - Dr Kate Baker, G Scerif, D Astle, T Baldeweg, FL Raymond 12:15 (SP79) Clinical features of Trichorhinophalangeal syndrome - Dr Adam Shaw 12:30 (SP80) Clinical profile of paediatric Brown-Vialetto-Van Laere syndrome - Dr Mina Ryten, C Hammond, M Lim, D Josifova

New Genes / Mechanisms Room: Auditorium 1B

11:45 (SP81) Hypomorphic mutation of PCNA causes a defect in nucleotide excision repair and a novel human DNA repair disorder - Dr Emma Baple, HE Cross, H Fawcett, Y Nakazawa, BA Chioza, GV Harlalka, M Muggenthaler, MA Patton, A Sreekantan-Nair, S Mansour, P Rich, K Wagner, R Coblentz, CK Stein, JI Last, AMR Taylor, AP Jackson, T Ogi, AR Lehmann, CM Green, AH Crosby 12:00 (SP82) Whole exome sequencing determines the genetic basis of multiple mitochondrial respiratory chain complex deficiency - Prof Robert Taylor, A Pyle, H Griffin, EL Blakely, J Duff, L He, T Smertenko, CL Alston, VC Neeve, A Best, JW Yarham, J Kirschner, U Schara, B Talim, H Topaloglu, I Baric, E Holinski-Feder, A Abicht, B Czermin, S Kleinle, AAM Morris, G Vassallo, GS Gorman, V Ramesh, DM Turnbull, M Santibanez-Koref, R McFarland, R Horvath, PF Chinnery 12:15 (SP83) An amyotrophic lateral sclerosis case with 90 (GGGGCC)n repeats in blood provides evidence of multiple origins of the C9orf72 expansion - Dr James Polke, P Fratta, J Newcombe, S Mizielinska, T Lashley, M Poulter, J Beck, E Preza, A Devoy, K Sidle, R Howard, A Malaspina, RW Orrell, J Clarke, C-H Lu, K Mok, T Collins, M Shoaii, T Nanji, S Wray, G Adamson, AE Renton, MG Sweeney, T Revesz, H Houlden, J Hardy, S Mead, AM Isaacs, EMC Fisher 12:30 (SP84) Mutation in HYAL2 causes cleft lip and palate congenital cardiac malformations and myopia in humans and mice - Dr Martina Muggenthaler, BA Chioza, ER Behr, S Sharma, A Sreekantan-Nair, E Baple, HE Cross, Zahka, B Triggs-Raine

New Strategies Chair: Dr Stephen Abbs / Dr Sandi Deans

Room: Auditorium 1C

11:45 (SP85) Delivering nucleotide-resolution diagnostics by whole genome sequencing - Dr Christopher Watson, L Crinnion, JA Poulter, I Berry, A Dobbie, RS Charlton, IM Carr, E Sheridan, DT Bonthron 12:00 (SP86) An exome sequencing strategy to diagnose lethal autosomal recessive disorders - Professor Sian Ellard, E Kivuva, P Turnpenny, M Parker, A Bussell, K Stals, R Caswell, H Lango Allen 12:15 (SP87) Novel gene discovery through proximity clustering of de novo mutations in rare diseases - Dr Jeremy McRae, M Hurles 12:30 (SP88) NGS-assisted DNA-based digital qPCR for the detection and quantification of residual disease in CML patients with undetectable BCR-ABL1 transcripts - Miss Mary Alikian, P Ellery, M Forbes, G Gerrard, M Mueller, D Kasperaviciute, A Sosinsky, A Whale, J Huggett, L Foroni

BSGM 2014

PROGRAMME

Chair: Dr Pia Ostergaard / TBC

13:00-14:00

LUNCH - Hall 2, Exhibition

13:00-13:45

BSGM Scientific Programme Committee Meeting - Room: 10

14:00-15:00 7th BSGM LECTURE Chair: Mrs Angela Douglas

Room: Auditorium 1A

14:00 (SP89) Apert syndrome: what you can learn from the study of two nucleotides - Professor Andrew Wilkie (Oxford)

15:00-16:30 Workshop: Prenatal Microarrays Room: Auditorium 1A

15:00 (SP90) Evaluation of prenatal Array CGH compared with karyotyping for detecting pathogenic chromosome abnormalities in fetuses with ultrasound abnormalities: the UK EACH study results - Dr John Crolla (NIHR) 15:30 (SP91) Prenatal Arrays – National and International Overview - Dr Diana Wellesley (Southampton) 16:00 (SP92) New Genomic Technologies and Pregnancy: Care Pathway Group - Dr Carol Gardiner (Glasgow)

15:00-16:30 Workshop: Treatment Chair: Dr Shane McKee / Dr Catherine Breen

Room: Auditorium 1B

15:00 (SP93) Haematopoietic Stem Cell Therapies of Genetic Disease - Professor Robert Wynn (Manchester) 15:30 (SP94) Autophagy: from neurodegeneration to the plasma membrane - Professor David Rubinstein (Cambridge) 15:50 (SP95) Alpha1-antitrypsin deficiency: missense and serpinopathy - Dr Bibek Gooptu (London) 16:10 (SP96) Treatment of amyloidosis - Professor Philip Hawkins (London)

15:00-16:30 Workshop: Gene Regulation Chair: Dr Diana Baralle / Dr Maggie Williams

Room: Auditorium 1C

15:00 (SP97) Dynamics of Epigenetic Regulation - Professor Phil Avner (Monterotondo) 15:30 (SP98) Imprinting Disorders - Dr Deborah MacKay (Southampton) 16:00 (SP99) Splicing and disease - Dr Julian Venables (Newcastle)

16:30

END of CONFERENCE

BSGM 2014

PROGRAMME

Chair: Dr Bronwyn Kerr / Dr Jonathan Waters

1. Cancer Genetics Epidemiology clinical features and genetics of Multiple Endocrine Neoplasia type 2B (MEN 2B) in a complete population - Dr Anna Znaczko, P J Morrison, D E Donnelly

P02

Epidermal growth factor receptor copy number gain (EGFR CNG) predicts response to Gefitinib in oesophageal cancer in the second line - Dr Asa Dahle-Smith, D Stevenson, D Massie, A Osborne, D Collinson, GI Murray, H Keith, S Dutton, C Roberts, D Ferry, W Mansoor, J Thompson, H Harrison, A Chatterjee, F Falk, S Elyan, A Garcia-Alonso, DW Fyfe, I Chau, RD Petty, Z Miedzybrodzka

P03

Attitudes of women at high risk of ovarian cancer to population-based risk prediction and stratification - Miss Belinda Rahman, S Meisel, L Fraser, L Side, S Gessler, J Wardle, A Lanceley

P04

The frequency of defective mismatch repair in a retrospective series of colorectal cancers at the Royal Marsden Hospital (RMH); potential opportunities for mainstreaming - Dr Bianca Desouza, A Wotherspoon, N Rahman, C Turnbull, H Hanson

P05

Clinical management recommendations for cancer surveillance and preventative strategies in Lynch syndrome: is there evidence of disparity in clinical practice nationally? - Dr Bianca Desouza, C Turnbull, D Riddell, N Rahman, H Hanson

P06

Working in partnership with patients to provide focused support and information groups for women with a BRCA1/2 mutation - Mrs Caroline Langman

P07

Fast track referral for genetic counselling and BRCA1/2 testing for patients with newly diagnosed breast cancer: experience from Guy's Regional Genetics Service - Ms Chris Jacobs, L Izatt, A Kulkarni, D Ruddy, J Campbell, C Ridout, C Firth, A Shaw

P08

Constitutional and somatic genomic rearrangement of chromosome 21 in acute lymphoblastic leukaemia - Miss Claire Schwab, Y Li, SL Ryan, H Robinson, AV Moorman, PJ Campbell, CJ Harrison

P09

Implementing PALB2 gene testing in breast and ovarian cancer patients in the UK - Dr Clare Turnbull, E Ruark, S Seal, A Renwick, E Ramsay, S Powell, M Warren-Perry, BOCs collaboration, H Hanson, C Lord, N Rahman

P10

Exploring the impact of living with Von Hippel Lindau disease (VHL) - Ms Elizabeth Scully, F Wood, JR Sampson, F Pelz

P11

The genetic testing in epithelial ovarian cancer (GTEOC) study: Direct access to BRCA1/2 genetic testing in oncology - Dr Hannah Shipman, J Drummond, E Thompson, G Sagoo, B Newcombe, E Barter, P Ridley, S Miller, F Thompson, H Webb, C Hodgkin, LT Tan, M Daly, S Ayers, B Rufford, C Parkinson, H Earl, T Duncan, P Pharoah, S Abbs, N Hulbert-Williams, J Brenton, R Crawford, M Tischkowitz

P12

Polymorphism in genes CYP2C9 PTGS2 and ODC1 involved in aspirin handling influence colorectal cancer risk - Mr Harsh Sheth, E Northwood, F Elliott, J Barrett, G Smith, R Wolf, MS Jackson, M Santibanez-Koref, J Burn, DT Bishop

P13

Outcomes from BRCA1 and BRCA2 testing in an epithelial ovarian cancer cohort - Dr Helen Brittain, C Ridout, J Campbell, G Norbury, C Jacobs, L Izatt, D Ruddy, A Shaw, A Kulkarni

P14

A simple mainstreamed oncogenetic pathway delivers fast affordable routine BRCA testing for ovarian cancer patients - Dr Helen Hanson, A George, D Riddell, F Smith, V Cloke, M Gore, S Banerjee, N Rahman

P15

Are we missing cytogenetic causes of Lynch syndrome: an inversion of 2p which is not routinely tested for but which may be prevalent across the UK? - Dr Ian Frayling, D Barrell, P Batstone, G Brice, R Butler, R Harris, E Kirk, Z Miedzybrodzka, A Murray, P Thompson, S Nisbet, S Palmer-Smith, M Prothero, MT Rogers, S Rolleston, A Searle, P Turnpenny, J Wijnen

P16

Obesity aspirin and risk of colorectal cancer in carriers of hereditary colorectal cancer: a prospective investigation in the CAPP2 study - Dr Mohammad Movahedi, T Bishop, F Macrae, J-P Mecklin, G Moeslein, S Olschwang, D Eccles, G Evans, ER Maher, J Burn

P17

Implementation of unaffected BRCA testing at The Royal Marsden Hospital; review of six months of practice - Miss Katie Nelson, K Kohut, Z Kemp, J Wiggins, B De-Souza, A George, C Turnbull, H Hanson, N Rahman, L Limb

P18

An MSI Test Suitable for MiSeq or Use in Local Pathology Departments - Miss Lisa Redford, M Santibanez Koref, S Needham, J Coaker, O O'Brien, M Kloor, J Tyson, G Alhilal, IV Middleton, J O'Halloran, M Jackson, J Burn

P19

PALB2 variant database - a joint collaboration between LOVD and ClinVar - Dr Marc Tischkowitz, D Subramanian, G Riley, D Maglott, R Villamarin-Salomon, S Chitipiralla, M Landrum, JT den Dunnen BSGM 2014

Presentations PosterPresentations Poster

P01

Is the Clinical Genetics appointment used as a teachable moment for cancer prevention and health promotion? - Miss Mary Rimbi, JN Berg, AS Anderson, S Caswell

P21

Validation of the SureSeq™ Solid Tumour Panel for discovery of variants in solid tumours and comparison with PCR-based enrichment assays - Dr Michael McAndrew, G Speight, S Hughes, J Bell, C Mattocks, J Holdstock, D Swan, P Rehal, M Lyon, M Smith, B OSullivan, MB McAndrew, G Thomas, J Anson, M Griffiths, NCP Cross, J Clough

P22

SMARCE1 mutations in spinal and cranial clear cell meningiomas - Dr Miriam Smith, AJ Wallace, C Bennett, M Hasselblatt, E Elert-Dobkowska, LT Evans, WF Hickey, J van Hoff, D Bauer, A Lee, RF Hevner, C Beetz, D du Plessis, J-P Kilday, WG Newman, DGR Evans

P23

Investigating the role of the KRAS variant in breast cancer bilaterality - Dr Terri McVeigh, KJ Sweeney, MJ Kerin, JB Weidhaas

P24

A retrospective review of Hereditary Paraganglioma/ Phaeochromocytoma referrals to the Northern Ireland Regional Genetics Service - Ms Aimee McCoubrey, V McConnell

P25

PMS2 - Tumour spectrum in 9 Irish families - Dr Alex Magee, A Green

P26

Combined testing for somatic mutations in JAK2 MPL and CALR in the diagnosis of myeloproliferative neoplasia using a unified amplicon-based next generation sequencing protocol and analysis pipeline - Mrs Alison Callaway, JLA Callaway, MS Lyon, DL Ward, AV Jones, CJ Mattocks, NS Thomas, NCP Cross

P27

Next Generation Sequencing Analysis of Phaeochromocytoma and Paraganglioma: Detection of activating mutations in HRAS and BRAF - Dr Andrea Luchetti, D Walsh, H Martin, G Clark, T Martin, R Irving, M Robledo, ER Woodward, F Latif, S Abbs, ER Maher

P28

Aspirin alters immune cell infiltration of colonic mucosa in Lynch syndrome: a possible mechanism for cancer prevention - Mr Benjamin Hartog, DT Bishop, J Mathers, M von Knebel Doberitz, M Kloor, J Coaker, J Burn

P29

BCL2L1 gene amplification provides human embryonic stem cells with a strong selective advantage in culture - Mr Duncan Baker

P30

Clinical validation of fluorescence in situ hybridisation (FISH) assay for detection of 1p/19q co-deletion for assessment of prognosis in glioma - Ms Fran O'Neill, M Pinkham, C McBain, D DuPlessis, R Gattamaneni, A Tran, G Whitfield, N Telford

P31

Towards an NGS diagnostic service for tumour genotyping: a comparison of panels and platforms - Dr George Burghel, H Dickinson, C Hurst, P Chambers, CM Watson, M Knowles

P32

Use of the SureSeq Solid Tumour Panel assay & droplet digital PCR (ddPCR) to detect pancreatic cancer associated mutations in formalin fixed paraffin embedded tissue and matched plasma & serum samples - Dr Carolyn Dent, J Tod, G Thomas, MB McAndrew, S Hughes, HE White

P33

Malignant peripheral nerve sheath tumour in Cowden Syndrome - a first report - Dr Isabelle Delon, A Taylor, K Allinson, J Trotman, H Liu, S Abbs, M Tischkowitz

P34

Development of a next generation sequencing (NGS) panel for breast/ovarian cancer - Dr Joanna Campbell, CK Ridout, L Brodd, K Stone, N Chandler, S Yau

P35

RET and RAS gene analysis in Medullary Thyroid Cancer - Ms Martina Owens, B Vaidya

P36

Application of the SureSeq™ Solid Tumour Panel Sequencing Service to a panel of FFPE samples of Non Small Cell Lung Cancer from the Liverpool Lung Project - Dr Michael Davies, AR Hyde, J Gosney, S Hughes, JK Field

P37

Clinical utility of an extended breast cancer gene panel in familial breast/ovarian cancer - Dr Natalie Forrester, LV Vialard, SC Clokie, SG Green, KRO Ong, JB Bell, YW Wallis

P38

Validation of a Haloplex panel of six cancer genes for Next Generation Sequencing of archived tumour samples - Dr Rhianedd Ellwood-Thompson, A Stretton, L Fares, H Roberts, R Butler

BSGM 2014

Poster Presentations

P20

2. Clinical Genetics and Dysmorphology One SHOX after another: Two interesting patients with vice versa derivative X chromosomes identified by array comparative genomic hybridisation (aCGH) - Dr Anna Thompson

P40

Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I - Dr Catherine Breen, J Mercer, K Tylee, SA Jones, C Beetz, WG Newman

P41

Application of aCGH for pre-implantation genetic diagnosis of translocations and additional unrelated chromosome aneuploidy and identification of factors influencing outcome - Miss Colleen Lynch, H Forbes, L Xanthopoulou, A Kotsadamis, T Gordon

P42

Next Generation Sequencing for PGD of Chromosome Inversion inv(2)(p24.3-q33.3) - Miss Colleen Lynch, F Kokocinski, A Brown, L Xanthopoulou, A Gordon

P43

Recognisable syndromes extracardiac malformations and developmental delay in children recruited under 5 years of age with apparently isolated congenital heart disease - Dr Danielle Brown, J OSullivan, B Keavney, JA Goodship

P44

Late onset Cryopyrin-Associated Periodic Syndromes (CAPS) associated with somatic mosaicism in the NLRP3 gene in four patients - Mrs Dorota Rowczenio, J Aróstegui, S Gomes, E Omoyinmi, E Gonzalez-Roca, A Standing, D Eleftheriou, N Klein, P Brogan, H Lachmann, P Hawkins

P45

A systematic review of genetic testing for HNF1A and GCK in monogenic diabetes - Dr Ellen Thomas, GS Sagoo, C Kan, C Patch

P46

A high genetic load! - Dr Emma Clement, A Calder, S Grunewald, R Narayan, S Parashar, H Williams

P47

Hyperferrtinaemia with or without cataract - Dr Fiona Stewart

P48

Detection of autosomal recessive disorders using microarray CGH - Dr Lara Hawkes, V Harrison, C Noakes, C Scott, A Smith, R Candlin, E Blair, C Campbell, U Kini

P49

A tale of two sisters: identical IL36RN mutations and discordant phenotypes - Dr Neil Rajan, N Sinclair, H Nakai, Y Shimomura, S Natarajan

P50

A case series illustrating a distinct dysmorphic facies for 15q11.2 duplication syndrome - Dr Rhoda S Akilapa, MJ Parker

P51

Genetic Discrimination and predictive testing for Huntington's Disease and Familial Cancer in Northern Scotland: the IRESPOND-UK study - Dr Sarah Wedderburn, D Rae, J Williams, R Carey-Heaton, Z Miedzybrodzka

P52

Children with Rare Chromosome Disorders: UK Families' experiences of diagnosis and genetic counselling up to 2003 compared with the following 10 years to 2013 - Dr Sarah Wynn, J Elliott

P53

Clinical yield of comparative genomic hybridization array (aCGH) over a three year period at a tertiary neonatal unit - Dr Caoimhe McKenna, SL Chuang

P54

Watch out - mosaicism about! - prenatal diagnosis of mosaic partial duplication of 3q - Dr Shwetha Ramachandrappa, A Kulkarni, CF Pinto, L Bradley

P55

The Osteogenesis Imperfecta / Ehlers Danlos overlap syndrome - Dr Simon Bodek, R Crowley, N Gittoes, R Pollitt, T Cole

P56

Inherited Duplication of the Short Arm of Chromosome 18p11.32-p11.31 associated with Developmental Delay/Intellectual Disability - Dr Sivagamy Sithambaram, K Smith, M Balasubramanian

P57

Diagnostic Yield of Array Comparative Genomic Hybridisation (ArrayCGH) in Patients with Autistic Spectrum Disorders - Dr Sivagamy Sithambaram, M Balasubramanian, S Gentle, E Atack

P58

Unravelling the Genetics of Autism - Dr Sivagamy Sithambaram

P59

Evaluation of Panel based Genetic Testing : A Single Centre Experience of the Inherited Retinal Disease NGS Panel Test - Dr Anna Wilsdon, A Dixit, J Eason, R Harrison, A Sarkar, N Shannon, M Suri

P60

Retrospective review of antenatal scan findings in postnatally diagnosed array CGH abnormalities - Dr Audrey Smith, A Stewart, K Cohen BSGM 2014

Poster Presentations

P39

Metronidazole toxicity in Cockayne syndrome - Dr Brian Wilson, A Strong, S OKelly, J Munkley, Z Stark

P62

Duplications of FMR1 potentially causative of learning difficulties through gene dosage effect in four patients - Mrs Claire Hodgkiss, D Bohanna, L Reali, D Williams, H Cox, D McMullan

P63

Total anomalous pulmonary venous drainage in a patient with Koolen syndrome (del17q21.31) - Dr Deborah Osio, N Jain, N Archer, PD Turnpenny

P64

Phenotypic discordance with molecular concordance for Beckwith-Wiedemann syndrome in monozygotic triplet boys: a case report and review of previous cases - Dr Ellen Thomas, R Oakey

P65

Variation of phenotype associated with ANKRD11 - Dr Emma Clement, C Dennis, D Morrogh, M Ansari, D Fitzpatrick, M Bitner-Glindzicz

P66

Genetic testing in the diagnosis of chondrodysplasias- a single centre study from 2003-2013 - Mr Calum Yacoubian, E Kinning

P67

Duplication of 1p36: a clinical and molecular study - Dr Helen Stewart, R Candlin, A Nemeth

P68

Homozygosity mapping in a sib-pair with Fraser syndrome illustrates the value of SNP-Array in patients with autosomal recessive disorders - Dr Jonathan Waters, D Morrogh, JA Hurst, RH Scott, A van Zwaag, JK Ploos, A Taylor-Beadling, NJ Lench

P69

An interstitial 4q deletion with a mosaic complementary ring chromosome in a child with dysmorphism, linear skin pigmentation and hepatomegaly - Dr Jonathan Waters, J Carter, D Morrogh, E Rosser, NJ Lench

P70

The 1q21.1 Microdeletion and Microduplication syndromes - Mrs Mala Vast, C Ferreira-Pinto, K Marks, R Taylor, A Kulkarni

P71

Withdrawn

P72

Vascular Ehlers-Danlos syndrome: a review of the phenotype and natural history of patients referred to the EDS National Diagnostic Centre in London at Northwick Park Hospital since 2009 - Mrs Marion Bartlett, C Cummings, FM Pope, A Vandersteen, M Kosicka-Slawinska, N Ghali

P73

Antenatally diagnosed ectrodactyly with array abnormality - Dr Rachel Hart

P74

SMAD4 plus - Dr Rachel Hart, A Fryer, V McKay

P75

Atypical 22q11 Rearrangements unmasked by Array CGH - Mrs Sally Spillane, SF Jose, DA Barrell, EE Lewis, D Kumar, D Pilz, A Clarke, S Davies

P76

XLMTM: Reflections on Genetic Testing in Two Neonatal Patients Referred With Hypontonia and Respiratory Difficulties - Miss Sian Jose, A Kamath, SJ Davies, SM Morgan

P77

Two reports of intragenic deletions detected by array CGH that contribute to emerging syndromes - Miss Sian Jose, EE Lewis, SM Morgan, E McCann, R Butler

P78

Expansion of Noonan Spectrum test confirms involvement of RIT1 mutations in RASopathies - Miss Silvia Borras, E Stephenson, S Moore, K Livermore, J Short, A Curtis, R Taylor

P79

A Northern Irish population study of renal disease in Tuberous Sclerosis Complex - Ms Tara O'Neill, C Shepherd, R Hardy, D Donnelly, P Morrison

P80

Massively parallel sequencing panel for genes associated with orofacial clefting and skeletal conditions: initial results from 13 gene panel - Dr Victoria McKay, V Stinton, D Gokhale, E Sweeney, R Mountford

P81

Asplenia and pneumococcal meningitis: a rare and life threatening presentation of Feingold syndrome - Dr Alison Foster

P82

Abernathy malformation: a rare association with Goldenhar syndrome - Dr Anna de Burca, E Blair, J Collier

P83

Family Communication in inherited cardiovascular conditions (ICCs) in Ireland - Ms Sinead Whyte, H Shipman

P84

Experiences of clinical genetics in two cultures - Miss Shanya Sivakumaran

BSGM 2014

Poster Presentations

P61

3. Education and Training Development of an e-learning course "Introduction to bioinformatics" - Mr Andrew Devereau, S Sutherland, J Taylor, AC Davies

P86

MSC - Clinical Bioinformatics One Year On - Dr Angela Davies, J Taylor, A Devereau, K McCaffrey, S Boardman, S Ramsden, G Moulton, A Brass

P87

Genomics in mainstream medicine: an initiative to raise awareness and promote genomics amongst physicians in the UK - Dr Hilary Burton, T Cole, I Cree, P Farndon, B Kerr, I Slade, J Wass, E Copson, I Leigh, H Markus, J Sayer, H Watkins

P88

An observer's guide to large scale genomics studies - Dr Peter Lunt

P89

The Baby Bio Bank-A Legacy for Researchers Worldwide Into Common Complications of Pregnancy - Dr Sayeda Abu-Amero, N Solanky, A Thomas, S White, K Rogers, A-M Miranda, C Williamson, M Johnson, L Leon, C Demetriou, K Ye, L Al-Olabi, B Stanier, H Costello, S Tzehaie, L Regan, GE Moore

4. Genomics and Epigenetics (includes Chromosomal Disorders) P90

Investigations of the annexin A5 (ANXA5) M2 haplotype in a 1000 White-European recurrent miscarriage patients - Mr Charalambos Demetriou

P91

Even and odd: defining the structure of variation at the human amylase CNVs - Prof John Armour, D Carpenter, S Dhar, LM Mitchell, B Fu, J Tyson, N Shwan, F Yang, MG Thomas

P92

Genome-wide Differential Methylation Analysis in Silver-Russell Syndrome - Dr Miho Ishida, AR Prickett, JM Frost, S Böhm, W Puszyk, S Abu-Amero, P Stanier, R Schulz, RJ Oakey, GE Moore

P93

The clinical and molecular features in a child with compound heterozygous alterations in CNTNAP2 - Miss Alison Smith, C Noakes, H Stewart, C Campbell, C Zweier, D Shears

P94

Two cases of a supernumerary chromosome resulting in mosaic tetrasomy 3q26 to qter - Mr David Bohanna, M Drozniewska, L Reali, S Keigwin, D Lim, Julie Vogt, D McMullan

P95

Comparing MiSeq to capillary sequencing as a method for validating exome variants discovered in the Deciphering Developmental Disorders (DDD) study - Miss Diana Rajan, E Prigmore, P Jones, S Clayton, S Lindsay, A Wuster, M van Kogelenberg, C Wright, M Hurles, DDD Study

P96

A high resolution high throughput array CGH pipeline to analyse patient samples in the Deciphering Developmental Disorders study - Dr Elena Prigmore, D Rajan, N Krishnappa, D Barrett, L Mason, S Gribble, K Ambridge, T Bayzetinova, A Tivey, S Clayton, T Fitzgerald, R Miller, P Jones, C Wright, M Hurles

P97

Clinical Genomics in Practice: Potential for detection of incidental findings and carrier status with clinical exome sequencing - Mr Hassan Shakeel, K Brügger, H Martin, F Rodger, R Littleboy, I Delon, S Mehta, SM Park, R Armstrong, G Woods, S Holden, R Sandford, S Abbs, ER Maher

P98

Development of an HLA haplotype and SNP genotyping assay for the accurate quantification of cell free fetal DNA in plasma - Dr Carolyn Dent, J Brown, M Onstenk, LS Chitty, HE White

P99

A complex X chromosome rearrangement detected by array CGH with features characteristic of chromothripsis - Mrs Sarah Anderson, SM Morgan, DT Pilz

P100

Incidental findings by chromosomal microarray of exonic deletions in the DMD gene in males with no known muscle pathology - Ms Sylvia Keigwin, L Reali, L Cooper-Charles, C Hardy, T Cole, J Morton, D McMullan

5. Molecular Basis of Mendelian Disease P101

The molecular genetic analysis of the expanding pachyonychia congenita case collection - Dr Frances Smith, NJ Wilson, EA OToole, LM Milstone, CD Hansen, AA Shepherd, E Al-Asadi, ME Schwartz, WHI McLean, E Sprecher

P102

Genetic and clinical profile of cystinuria cohort from the South West UK - Miss Hannah Rhodes, L Yarram, RJ Coward, CR Tomson, S Smithson, M Williams

P103

Whole exome sequencing identifies a NEXN mutation in a family with left ventricular non-compaction - Mr John Taylor BSGM 2014

Poster Presentations

P85

Exome sequencing reveals that SOS1 mutations cause pure mucosal neuroma syndrome with overlapping features of Multiple Endocrine Neoplasia type 2B (MEN2B) but no endocrinopathy - Ms Martina Owens, B Vaidya, E Kivuva, R Caswell, H Lango Allen

P105

Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia - Dr Mina Ryten, C Bettencourt, P Forabosco, S Schorge, J Hersheson, J Hardy, H Houlden, UK Brain Expression Consortium

P106

Identification of a novel gene causing a recognizable and distinct autosomal recessive intellectual disability and ataxia syndrome with early onset cerebellar atrophy and relative macrocephaly - Dr Philip Stanier

P107

The frequency of the common Bile Salt Export Pump modifier allele (c.1331T>C p.V444A) in patients with heterozygous severe mutations presenting with transient cholestasis - Dr Sandra Strautnieks, O Rahman, P Foskett, R Thompson

P108

Germline mutations in RYR1 are associated with Foetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome - Dr Arthur McKie, A Al-Saedi, J Vogt, KE Stuurman, J Weiss, H Shakeel, L Tee, NV Morgan, SM Park, JJ van der Smagt, M Bugiani, ER Maher

P109

Progressive external ophthalmoplegia with mitochondrial DNA deletions: mutation spectrum in a cohort of 90 patients - Mr Carl Fratter, J Williams, C Smith, JC Evans, M Jackson, A Seller, J Poulton

P110

A case of hepatocerebral mitochondrial DNA depletion syndrome caused by two novel splicing mutations in the DGUOK gene - Dr Conrad Smith, C Fratter, J Evans, A Seller, N Hadzic, A Baker, R Vara, T Grammatikopoulos, J Poulton

P111

Variants in the EFNB1 gene in females presenting without the classical craniofrontonasal syndrome phenotype - Miss Helen Lord

P112

A further shade in atypical Fabry disease: a GLA mutation and an MYH7 variant in a patient with hypertrophic cardiomyopathy - Dr Lampros Mavrogiannis, K Ashcroft, RJ Baker, DA Hughes, CP Bennett, RS Charlton

P113

Streamlining of a mitochondrial (mt) disease diagnostic service using next generation sequencing (NGS) - Miss Mary Sweeney, CE Woodward, RDS Pitceathly, EE Mudanohwo, RW Labrum, J Hayward, D Hughes, A Pitman, JM Polke, A Horga, R Quinlivan, H Houlden, S Rahman

P114

Identification of a pathogenic Alu element insertion in the ALMS1 gene in a patient with Alström syndrome - Mr Piers Fulton, C Hardy, J Hunt, M Burch, J Hurst, D Williams, F MacDonald

P115

Potential false negative diagnosis in a Huntington disease case with 36 CAG repeats caused by a SNP in the primer binding site - Dr Rachael Tredwell, J Field, S Gardiner, E Dennison, K Stafford, G Cross

P116

Gene panel testing in peripheral neuropathy patients can reveal multiple variants of interest in different genes - Mrs Sarah Burton-Jones, H Kingston, C Buxton, G Dennis, MM Williams, T Antoniadi

P117

Assessment of a series of DNA base changes for influence upon mRNA splicing - Miss Sophie Marks, D Bunyan, F Lin, M Lyon, M Raponi, D Robinson, D Baralle

P118

Congenital Heart Disease Gene Identification by Whole Exome Sequencing - Dr Verity Hartill, CV Logan, DA Parry, K Ashcroft, E Brown, K English, KR Prescott, A Dobbie, CP Bennett, J Goodship, EG Sheridan, CA Johnson

P119

LRRC56 is a novel gene causing primary ciliary dyskinesia (PCD) identified through exome-based diagnostic testing - Dr Christopher Watson, N Roberts, L Crinnion, C Daly, RS Charlton, IM Carr, DT Bonthron, E Sheridan

6. Pharmacogenetics and Treatment of Genetic Disorders P120

Private mutations are of more than private interest: Absence of striatal PDE10A results in chorea confirms the importance of PDE10A in movement control and questions its role in Huntington's chorea - Dr Eamonn Sheridan, CP Diggle, M Popiolek, S Rizzo, JP Schuelke, IP Carr, K Pysden, N Brandon, AF Markham, V Reinahrt, E Charych, J Harms, C Strick

7. Service Development & Delivery (Clinical & Laboratory) P121

Realising Genomics in clinical practice. Addressing the ethical legal and social issues arising from implementing next generation sequencing technologies into the NHS - Ms Alison Hall

P122

Policy de elopement for carrier testing in autosomal recessive conditions - Prof Andrew Green, Jackie Turner, AJ Ward, RM Kelly BSGM 2014

Poster Presentations

P104

Improving the diagnosis of paediatric mitochondrial complex I deficiency using a targeted next-generation sequencing strategy - Mrs Charlotte Alston, AG Compton, LP He, EL Blakely, HL Tuppen, R McFarland, DR Thorburn, RW Taylor

P124

Detection of methylation status by Next Generation Sequencing (NGS) - Dr Dave Wallace, I Carr, P Roberts

P125

Outcomes from 4 years of an integrated mismatch repair deficiency service at Guy's & St Thomas' NHS Foundation Trust - Mrs Gail Norbury, B Gill-Barman

P126

The application of high-throughput targeted genomics for the molecular characterisation of Diamond-Blackfan anaemia: a cohort study - Dr Gareth Gerrard, HE Foong, M Elven, D Iskander, M Valganon, D Kasperaviciute, M Muller, I Roberts, A Karadimitris, L Foroni, J de la Fuente

P127

A Next Generation Sequencing gene panel for Disorders of Sex Development (DSDs) - Mr Graham Fews, K McKay Bounford, L Hughes, T Cole, NP Krone, S Allen, F Macdonald

P128

Cost-effectiveness of using array CGH for diagnosing learning disability - Dr Gurdeep Sagoo, S Mohammed, G Norbury, JW Ahn, CM Ogilvie, M Kroese

P129

Making the economic case for clinical exome sequencing - Dr Gurdeep Sagoo, M Kroese, H Martin, I Delon, R Armstrong, K Brugger, F Rodger, R Littleboy, SG Sarju, SM Park, G Woods, S Holden, R Sandford, E Maher, S Abbs

P130

How deep should we go? Estimating the sensitivity of heterozygous SNV and InDel detection by next generation sequencing - Dr Hana Lango Allen, X Xu, M Tuke, R Caswell, S Ellard

P131

Frontotemporal Dementia - Practical approaches to genetic counselling - Dr Helen Murphy, H Jolley, S Henriques, W Beckett, A Clarke, R MacLeod

P132

Development of a 21 gene Next Generation Sequencing (NGS) assay for AR and AD Osteopetrosis - Ms Laura Yarram-Smith, J Whitfield, C Crosby, S Smithson, C Steward, G Dennis, M Williams

P133

Improved diagnostic yield for hereditary spastic paraplegia testing following implementation of a next-generation sequencing panel - Mrs Joanne Martindale, R Crookes, E Atack, L Crooks, A Dalton

P134

Next Generation Sequencing - clinical diagnostic applications for Inborn Errors of Metabolism - Dr Liz Allen, R J Kirk, AS Llewellyn, K Blighe, L Crooks, A Dalton

P135

MS-MLPA testing service for the detection of methylation status of MGMT in Glioblastoma samples - Ms Maha Younes

P136

Diagnostic testing of chromosome breakage disorders and inherited bone marrow failure syndromes by next generation sequencing - Mr Mark Greenslade, K Smith, R Newbury-Ecob, C Steward, G Dennis, M Williams

P137

BCR-ABL1 kinase domain mutation analysis using amplicon deep sequencing on the Ion Torrent platform - Ms Mary Alikian, HE Foong, T Myint, D Milojkovic, J Apperley, L Foroni, G Gerrard

P138

Validation of a next generation sequencing assay using a panel of 73 genes associated with paediatric cardiomyopathy (PC) - Mrs Mary Gable, J Honeychurch, H Sawyer, R Newbury-Ecob, C Steward, L Robert, T Bueser, M Williams

P139

Uptake of predictive tests for Huntington's disease (HD) in the UK 1993-2012 - Dr Oliver Quarrell, E Rosser, N Taverner, Z Miedzybrodzka, A Clarke, D Craufurd, M Strong

P140

Transforming the care of children with congenital cataracts: next generation sequencing in the front line - Dr Sarah Waller, T Fletcher, R Gillespie, G Hall, I C Lloyd, J Clayton-Smith, S Ramsden, G Black

P141

Detection of point mutations and copy number variants (CNV) in Alport Syndrome by Next Generation Sequencing (NGS) - Dr Shu Yau, H Storey, N Parkin, K Stone, L Brodd

P142

NIPSIGEN study - translation of non-invasive prenatal diagnosis (NIPD) for selected single gene disorders into a clinical setting. NIPD by Relative Haplotype Dosage for DMD/BMD - Dr Stephanie Allen, M Parks, S Court, J Hewitt, F MacDonald, D Williams, T Cole, M Griffiths

P143

Attitudes to risk-stratified screening for breast-and ovarian cancer based on prior genetic risk assessment: Results from a population-based sample of women in the UK - Dr Susanne Meisel, B Rahman, L Side, S Gessler, L Fraser, A Lanceley, J Wardle BSGM 2014

Poster Presentations

P123

UKGTN Inherited Peripheral Neuropathies NGS gene panel service: one year of testing shows high diagnostic yield high complexity and new phenotype-genotype associations - Dr Thalia Antoniadi, S Burton-Jones, C Buxton, G Dennis, M Williams

P145

Quality Standards for DNA Sequence Variation Databases to Improve Clinical Management Under Development in Australia - Mrs Vanessa Tyrrell

P146

The Leeds Molecular Oncology Diagnostic Facility; In-house tailored Diagnostic Genotyping Service for Lung Cancer by Next Generation Sequencing - Mrs Victoria Hewitt, H Dickinson, D Wallace, P Roberts

P147

Introduction of CALR mutational analysis into the current myeloproliferative neoplasm screening pathway at Sheffield Diagnostic Genetics Service (SDGS) - Mrs Akua McGeoch

P148

Genomic DNA extracted from saliva is a suitable template for targeted cardiac gene capture by hybridization and next generation sequencing - Dr Andrew Buckton, E Edwards, S John, R Walsh, S Wilkinson, G Rea, SA Cook

P149

Different levels of mosaicism in aliquots of the same amniotic fluid sample; potential for misdiagnosis? - Miss Celia Brown, C Mackie Ogilvie, K Mann, S Bint, B Thilaganathan, R Johnson

P150

Development of a Familial Hypercholesterolaemia NGS Screen: Simultaneous Detection of Point Mutations and Deletions/Duplications - Dr Cheryl Ridout, L Brodd, K Stone, A Wierzbicki, S Yau

P151

Implementation of the MiSeqDx™ Cystic Fibrosis 139-Variant Assay at TDL Genetics - Miss Claire Lambert, Amy Scott, A Levett, E Holgado, L Levett, S Liddle

P152

Melanocyte culture - an adjunct to the National Commissioning Group funded Neurofibromatosis Type 1 (NF1) mutation testing service - Mrs Emma Miles, M Minnis, M Pereira, AJ Wallace, H Ward, L Gaunt, DGR Evans, SM Huson

P153

Diagnostic services based on whole exome sequencing: the Leeds experience - Dr Helen Lindsay, R Robinson, N Camm, R Charlton, I Berry, J Adlard, A Dobbie, L Crinnion, C Watson

P154

A next generation sequencing diagnostic service for malformations of cortical development - Mr Hood Mugalaasi, LG Rosser, S Palmer-Smith, MD Wood, DT Pilz, A Fry, R Butler

P155

CytoSeq the development of a low cost whole genome sequencing approach as an alternative to cytogenetic microarray analysis for CNV detection at 100kb resolution - Dr Howard Martin, K Brugger, R Littleboy, F Rodger, M Garner, S Abbs, I Simonic, FL Raymond

P156

The use of targeted whole exome sequencing in the diagnosis of rare recessive ciliopathies (Meckel syndrome Joubert syndrome and primary ciliary dyskinesia) - Mr Ian Berry

P157

Clinical exome sequencing in a regional diagnostic laboratory via dynamic gene panel management - Dr Isabelle Delon, K Brugger, H Martin, Ian Johnson, F Rodger, R Littleboy, G Sagoo, SG Mehta, SM Park, Armstrong, G Woods, S Holden, M Kroese, R Sandford, E Maher, S Abbs

P158

Validation of array CGH findings using qPCR - a new service within the All Wales Medical Genetics Service (AWMGS) - Dr Jade Chapman, SF Jose, SM Morgan, IJ Williams, L Lazarou, R Butler

P159

Development of a preimplantation genetic haplotyping assay for 15q duplication syndrome in a family with a complex unstable 15q11-q13 rearrangement - Mrs Jenna Jenkinson, JC Pagan, N Carroll, S Pickering, A Kopakai, L Arizzi, R Scorio, P Renwick, S Morton, C McAtamney, J Thong, E Maher, M Porteous, J Warner

P160

Implementation of an exome sequencing pipeline to increase the diagnostic yield in hereditary cancer families with unknown genetic etiology: comparison of 3 exome capture systems - Miss Jennifer Lickiss, S Clokie, Y Wallis, J Hoffman, K Ong, E Woodward

P161

The impact of routine Next Generation Sequencing testing for Familial Hypercholesterolaemia - 8 months service experience - Mrs Julie Honeychurch, P Dean, S OShea, L Yarram-Smith, G Woodward, M Greenslade, G Dennis, G Bayly, M Watson, P Giles, K Haralambos, I McDowell, M Williams

P162

Developing a model for BRCA1 and BRCA2 carrier management at The Royal Marsden Hospital - Ms Kelly Kohut, J Wiggin, K Nelson, C Turnbull, Z Kemp, A George, B DeSouza, N Rahman, H Hanson

P163

MokaSeq: Initial validation of the sequence analysis module of an NGS software platform for clinical diagnostics - Dr Kevin Ryan, N Chandler, N Parkin, M Simpson, M Yau, C Mackie Ogilvie, JW Ahn BSGM 2014

Poster Presentations

P144

A combined clinical and laboratory genetics strategy for the validation of DDD findings - Mrs Kirsten McKay Bounford, D Bohanna, C Hardy, D Lim, N Cooper, J Vogt, M O’Driscoll, D Williams, S Sharif, T Cole, J Morton, D McMullan

P165

Diagnosing Baraitser-Winter Cerebro-Fronto-Facial syndrome (BWCFF) - Dr Michelle Wood, H Mugalaasi, LG Rosser, DT Pilz, SM Palmer-Smith, R Butler

P166

Implementing an extended carrier screening panel in individuals of Ashkenazi Jewish descent using a targeted resequencing array - Ms Monika Augustynowicz, D Morrogh, A Taylor-Beadling, L Jenkins, N Lench, K Jacobs-Sarig

P167

Next Generation Sequencing (NGS) of Inborn Errors of Metabolism - Dr Natalie Chandler, C Deshpande, H Mundy, Y Rahman, R Vara, M Champion, D Ellis, S Yau

P168

Combined approach to comprehensive testing for Alagille syndrome - Mr Pierre Foskett, SS Strautnieks, JM Tredger, O Rahman, M Sambrotta, J Underhill, AJ Baker, RJ Thompson

P169

Development and validation of a molecular genetic testing service for congenital hypothyroidism - Miss Rachael Irwin, H Cangul, C Hardy, R Doak, T Barrett, F Macdonald

P170

Audit-Genetic testing in Children - Dr Rachel Hart, A Fryer, C Bailey

P171

A bioinformatics pipeline for processing NGS data - Dr Sirisha Hesketh, J Williams, M Shanks, S Reid, J Hayesmoore, J Woodley, G Dawsom, K Thomson, T Lester, A Seller

P172

The development of a next generation sequencing panel for neuropathy epilepsy hereditary spastic paraplegia and related conditions - Miss Vicky Stinton, D Cairns, K Jones, R Mountford, R Kumar, S Spinty, A Fryer, N Hall, C Hertz-Fowler, D Gokhale

P173

Prenatal Diagnosis using first line Chromosomal Microarray for fetuses with scan abnormalities - a UK lab experience - Mrs Deborah Morrogh, L Grimsley, P Foley, JA Hurst, RH Scott, A Male, N Lench, JJ Waters

P174

Perceived Personal Control Questionnaire: Measuring Outcomes in Clinical Genetics - Dr Shereen Tadros, M Mora, E Rosser, A Barnicoat

BSGM 2014

Poster Presentations

P164