Public Profile -- hu1C50C6
Public profile url: https://my.pgp-hms.org/profile/hu1C50C6
Personal Health Records
None added.Samples
None available.Uploaded data
None available.Geographic Information
| State: | Oklahoma |
| Zip code: | 74106 |
Family Members Enrolled
None added.Surveys
| PGP Participant Survey | Responses submitted 3/21/2012 17:30:20. Show responses |
|---|---|
| Timestamp | 3/21/2012 17:30:20 |
| Year of birth | 30-39 years |
| Which statement best describes you? | I am comfortable making my genome sequence data publicly available without prior review. |
| Severe disease or rare genetic trait | Yes |
| Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile. | Stickler Syndrome |
| Disease/trait: Onset | Congenital / present at birth |
| Disease/trait: Rarity | Very rare/uncommon |
| Disease/trait: Severity | Moderate severity disease |
| Disease/trait: Relative enrollment | Maybe |
| Disease/trait: Diagnosis | Yes |
| Disease/trait: Genetic confirmation | No |
| Disease/trait: Documentation | Yes |
| Disease/trait: Documentation description | Medical records/images relating to eye exams and surgeries, dental records/xrays (flat facial profile/lower jaw teeth crowding/high soft palate are all associated with Stickler), xrays/medical records relating to arthritis & connective tissue in joints. |
| Sex/Gender | Female |
| Race/ethnicity | White |
| Maternal grandmother: Country of origin | United States |
| Paternal grandmother: Country of origin | Other / don't know / no response |
| Paternal grandfather: Country of origin | Other / don't know / no response |
| Maternal grandfather: Country of origin | United States |
| Enrollment of relatives | No |
| Enrollment of older individuals | No |
| Enrollment of parents | Maybe |
| Have you uploaded genetic data to your PGP participant profile? | No, I have no genetic data. |
| Have you used the PGP web interface to record a designated proxy? | Yes |
| Have you uploaded health record data using our Google Health or Microsoft Healthvault interfaces? | No, but I plan to |
| Blood sample | Yes |
| Saliva sample | Yes |
| Microbiome samples | Yes |
| Tissue samples from surgery | Yes |
| Tissue samples from autopsy | Yes |
Absolute Pitch Survey [see all responses]
Can tell if notes are in tune: Yes
Can sing a melody on key: Yes
Can recognize musical intervals: Yes
Do you have absolute pitch? No
Enrollment History
| Participant ID: | hu1C50C6 |
| Account created: | 2012-03-05 20:11:59 UTC |
| Eligibility screening: | 2012-03-05 20:13:55 UTC (passed v2) |
| Exam: | 2012-03-05 23:02:48 UTC (passed v2) |
| Consent: | 2015-08-06 14:31:43 UTC (passed v20150505) |
| Enrolled: | 2012-03-08 16:24:10 UTC |
