HNRNPH2

Learn more about HNRNPH2 and connect with other Simons Searchlight families with the resources below.

LATEST REGISTRY REPORT
Download the latest quarterly report here. The goal of this report is to share up-to-date data contributed by families. Building off the last report, the team used the Quality of Life Inventory to ask caregivers to describe how their family member with HNRNPH2 responds to life experiences. This survey and other important tasks are located on your dashboard. Participating in surveys is very important to the longevity of our study. Your unique experience could hold the clues that scientists need to find answers for you and others with rare genetic disorders. If you want to be included in future reports, join Simons Searchlight today!

To view past registry reports go to the bottom of this page and click on the dropdown menu tab labeled “Previous Registry Reports.”


VOICE OF THE COMMUNITY REPORT
Download the Voice of the Community report here. The Simons Searchlight team is happy to share the results from a special survey called The Simons Searchlight Voice of the Community. The results include specific data and information about your community. We extend a big thank you to everyone who contributed their unique information and insight. We couldn’t have done this without you.

+

Support Resources

+

Research Article Summaries

Below, we have summarized research articles about changes in the HNRNPH2 gene. We hope you find this information helpful. The information available about HNRNPH2 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for HNRNPH2 articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

  • Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females Original research article by J.M. Bain et al. (2016) Read the abstract here and the Simons Searchlight summary here.
+

Research Opportunities

  • Simons Searchlight Help the Simons Searchlight team learn more about HNRNPH2 genetic changes by taking part in our research. You can learn more about the project and sign up here.
+

Family Stories

Stories from HNRNPH2 families:

Click here to share your family’s story!