Synaptic vesicle cycling disorders – mapping the neurodevelopmental spectrum


Study website: http://www.mrc-cbu.cam.ac.uk/bingo/

Contact via Email: bingo@mrc-cbu.cam.ac.uk or Telephone 01223 769433

Lead Investigator: Dr Kate Baker
Programme Leader Track, MRC Cognition and Brain Sciences Unit, University of Cambridge and Honorary Consultant in Clinical Genetics

Research Assistant: Ms Elise Ng-Cordell

What is the BINGO study?

  • We characterise phenotypes and investigate mechanisms in neurodevelopmental disorders
  • Currently we are studying Synaptic Vesicle Cycling disorders (gene list below)
  • Study activities include online questionnaires for parents, and home-based assessments


  1. Patient is aged 3 years or older (no upper limit)
  2. Patient has a neurodevelopmental disorder (for example developmental delay, intellectual disability, learning difficulties or autism)
  3. Patient has a pathogenic or likely pathogenic variant, already fed back to families in any gene from this list: STXBP1, PRRT2, GNAO1, NRXN1/2/3, AP4S1/B1/E1, BSN, CACNA2D1, CACNA1A/B/E, CAMK2A/B, CLTC, CPLX1, DNM1/1L, GDI1, KIF1A, MINT2/APBA2, LGI1, PCLO, RAC1, RPH3A, RIMS1/3, SNAP25, STX1A/B, SV2A, SYN1/2/3, SYNJ1, SYP, SYT1, TRIO, UNC13A, VAMP2/SYB

If you are unsure whether a patient is eligible, please contact us to discuss in principle

What are we asking you to do?

Please identify eligible patients (retrospectively or in clinic) then



  • Email bingo@mrc-cbu.cam.ac.uk to request a printed information pack (postage paid), for you to post to the parents of an eligible patient

n.b. Patient identifiable data / contact details should not be passed to the project without consent


What happens next?

Families who register interest receive more information prior to consent and participation
We will contact you when a family has consented to participate, and ask you for a copy of their genetics report and a summary letter from your existing records (to supplement parent-reported phenotyping data).

Governance and funding

REC approval: IRAS 83633 (Project Title: Neuroanatomical, Cognitive and Behavioural Phenotypes in Intellectual Disability of Genetic Origin; CI Kate Baker)

This project has UK-wide R+D approval via the NIHR UK Rare Genetic Disease Research Consortium (Muskateers Memorandum)

This project is funded by the MRC and Great Ormond Street Hospital Children’s Charity / Sparks