Project start date: 01-Mar-2020 Project end date: 28-Feb-2023

Developmental Spectrum of Presynaptic Genetic Disorders: STXBP1, PRRT2, DNM1, SYT1


Case Definitions:

Download Invitation Letter here
Download Response Form here

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

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

What is the BINGO study?

We characterise phenotypes and investigate mechanisms in neurodevelopmental disorders of known genetic origin.

Currently we are studying disorders within the Synaptic Vesicle Cycle and Chromatin deregulation.

Study activities include online questionnaires for parents at present time. We hope to expand our protocols to home visits once it is possible.

What are we asking you to do?

Please identify eligible patients (retrospectively or in clinic) then

  • Either

Share our website address http://www.mrc-cbu.cam.ac.uk/bingo/ with parents of eligible patients (where they can register their interest and receive more information)

  • OR

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


Investigators and Contact Details:

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:

Dr Anna Kolesnik-Taylor


Inclusion Criteria:
  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, autism or epilepsy)
  3. Patient has a pathogenic or likely pathogenic variant, already fed back to families in any gene from this list: ARID1B NRX1 RPH3A SYN1 BSN NRX2 SETD5 SYN2 CLTC PCLO SMARCA2 SYNJ1/2 CPLX1 PRRT2 SNAP25 SYP DNM1 RAB11A STX1A SYT1 EHMT1 RAB11B STX1B TRIO KAT6B RIM1 STXBP1 UNC13A
If you are unsure whether a patient is eligible, please contact us to discuss in principle

Exclusion Crieria:

Additional Information:

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