Targeted gene/syndrome under study

PBX1 single nucleotide variants


After the initial report in 2017 of a neurodevelopmental disorder associated with PBX1 single nucleotide variants, only single case reports have been published. We have collected 25 novel patients with PBX1 variants via DDD/100K/Genematcher. We wish to examine any genotype phenotype correlation of missense and loss-of-function variants. We have pilot data of an episignature. We would like additional cases to help refine our genotype-phenotype correlation and episignature work.

Coordinating clinicians/researchers

Alisdair McNeill –


University of Sheffield, United Kingdom

Specific requirements beyond clinical data and genotype data sharing:

If possible we would like blood DNA for episignature work