About the person completing this form

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* 1. Which statement best describes you (the person completing the ASXL Census)?

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* 2. What is your name (the person completing the ASXL Census)?

Address information: Providing your State/Province and Country is required for participating in the ASXL Census. This information is vital to show partners where the global community is located. Providing additional address information is optional.

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* 4. What is your home address?

About the person with an ASXL-related disorder
Please complete the following information about the person with an ASXL-related disorder. We will refer to this person as “patient” throughout this section. If more than one member of your immediate family has an ASXL diagnosis, please submit a separate census response for each member of your family.

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* 5. What is your relationship to the patient you are reporting here?

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* 6. What is the patient's first name?

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* 7. What is the patient's year of birth? (entered as a 4-digit number; example: 2015)

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* 8. What year was the patient diagnosed with an ASXL-related disorder? (entered as a 4-digit number; example: 2015)

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* 9. What was the patient's sex at birth?

Patient diagnosis: In the question below, please indicate which ASXL-related disorder the patient has been diagnosed with. Changes in the ASXL genes are also sometimes called the following:
  • ASXL1: Bohring-Opitz Syndrome
  • ASXL2: Shashi-Pena Syndrome
  • ASXL3: Bainbridge-Ropers Syndrome

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* 10. Which ASXL-related disorder has the patient been diagnosed with?

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* 11. Compared to other individuals I'm aware of with the same ASXL diagnosis, I would say the patient is:

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* 12. Does the patient have any additional genetic diagnoses (other than an ASXL variant)?

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* 13. Is the patient living?

Information from the patient's genetic report
If you have the patient’s genetic report available, answers to the following questions are very helpful. If you do not have this information available right now or are unsure, you may select the option for someone from the ARRE Foundation to follow up with you to collect or confirm this information later.

Below is an example of the information you will be looking for on the genetic report, which includes the variant classification (pathogenic, likely pathogenic, or variant of uncertain significance) and inheritance (de novo, inherited from a parent, or inherited from a mosaic parent). This may appear in a table like the example below, or it may be written in the text of the report.

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* 14. What is the inheritance of the ASXL variant as shown on the patient’s genetic report? This may be labeled as "inherited from" on some genetic reports.

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* 15. What is the variant classification of the ASXL variant as shown on the patient’s genetic report? This may also be called the "variant interpretation" on some genetic reports.

Consent to participate
As part of our effort to better understand the ASXL-related disorders community, we are collecting information directly from families living with ASXL-related disorders. Our goal is to gain insights and identify patterns that can help advocates, doctors, and researchers better support the ASXL community.

Participation in the ASXL Census is completely voluntary. By completing this form, you consent to sharing the information you provide with the ARRE Foundation. You agree to have your anonymized data shared publicly in summary form. You also agree to have your anonymized location data (state/province and country only) displayed on the ASXL Census map. You also agree to be contacted by the ARRE Foundation via email regarding research opportunities, requests for additional information, or other relevant updates. Your identifiable information shared through this form (name, email address, street address, and city) will never be sold or shared. If you have any questions or concerns, please contact us (info@arrefoundation.org) before clicking Submit.

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* 16. Consent to participate

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