Public Profile -- hu5A0C00
Public profile url: https://my.pgp-hms.org/profile/hu5A0C00
Personal Health Records
None added.Samples
None available.Uploaded data
None available.Geographic Information
| State: | Tennessee |
| Zip code: | 37830 |
Family Members Enrolled
None added.Surveys
| PGP Participant Survey | Responses submitted 7/27/2011 9:57:47. Show responses |
|---|---|
| Timestamp | 7/27/2011 9:57:47 |
| Year of birth | 50-59 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. | nails patella syndrome. Abnormal thumbnails, patella and skeletal formation. |
| Disease/trait: Onset | Congenital / present at birth |
| Disease/trait: Rarity | Very rare/uncommon |
| Disease/trait: Severity | Low severity disease |
| Disease/trait: Relative enrollment | Maybe |
| Disease/trait: Diagnosis | Yes |
| Disease/trait: Genetic confirmation | No |
| Disease/trait: Documentation | Yes |
| Disease/trait: Documentation description | My grandmother, mother, sister, uncle, and myself all have malformed and missing thumbnails, patellas, various double joints and back problems. I have personally had knee cat scans, a back MRI, and can take pictures of my thumbs. (I have also developed ankylosing spondylitis. |
| Sex/Gender | Female |
| Race/ethnicity | American Indian / Alaska Native, White |
| Maternal grandmother: Country of origin | United States |
| Paternal grandmother: Country of origin | United States |
| Paternal grandfather: Country of origin | United States |
| Maternal grandfather: Country of origin | United States |
| Enrollment of relatives | No |
| Enrollment of older individuals | Yes |
| 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, and I do not plan to |
| Blood sample | Yes |
| Saliva sample | Yes |
| Microbiome samples | Yes |
| Tissue samples from surgery | Yes |
| Tissue samples from autopsy | Yes |
| PGP Trait & Disease Survey 2012: Cancers | Responses submitted 12/3/2014 8:59:22. Show responses |
| Timestamp | 12/3/2014 8:59:22 |
| Have you ever been diagnosed with one of the following conditions? | Uterine fibroids |
| PGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity | Responses submitted 12/3/2014 9:00:30. Show responses |
| Timestamp | 12/3/2014 9:00:30 |
| Have you ever been diagnosed with any of the following conditions? | Hypothyroidism, Hashimoto's thyroiditis, Diabetes mellitus, type 2, Lactose intolerance |
| PGP Trait & Disease Survey 2012: Blood | Responses submitted 12/3/2014 9:01:08. Show responses |
| Timestamp | 12/3/2014 9:01:08 |
| Have you ever been diagnosed with any of the following conditions? | Iron deficiency anemia |
| PGP Trait & Disease Survey 2012: Nervous System | Responses submitted 12/3/2014 9:01:56. Show responses |
| Timestamp | 12/3/2014 9:01:56 |
| PGP Trait & Disease Survey 2012: Vision and hearing | Responses submitted 12/3/2014 9:03:02. Show responses |
| Timestamp | 12/3/2014 9:03:02 |
| Have you ever been diagnosed with one of the following conditions? | Myopia (Nearsightedness), Dry eye syndrome, Floaters |
| PGP Trait & Disease Survey 2012: Circulatory System | Responses submitted 12/3/2014 9:04:12. Show responses |
| Timestamp | 12/3/2014 9:04:12 |
| Have you ever been diagnosed with one of the following conditions? | Hypertension, Varicose veins, Hemorrhoids |
| PGP Trait & Disease Survey 2012: Respiratory System | Responses submitted 12/3/2014 9:04:41. Show responses |
| Timestamp | 12/3/2014 9:04:41 |
| Have you ever been diagnosed with any of the following conditions? | Deviated septum, Chronic sinusitis, Chronic tonsillitis |
| PGP Trait & Disease Survey 2012: Digestive System | Responses submitted 12/3/2014 9:05:28. Show responses |
| Timestamp | 12/3/2014 9:05:28 |
| Have you ever been diagnosed with any of the following conditions? | Dental cavities, Temporomandibular joint (TMJ) disorder, Gastroesophageal reflux disease (GERD), Irritable bowel syndrome (IBS), Gallstones |
| PGP Trait & Disease Survey 2012: Genitourinary Systems | Responses submitted 12/3/2014 9:06:19. Show responses |
| Timestamp | 12/3/2014 9:06:19 |
| Have you ever been diagnosed with any of the following conditions? | Urinary tract infection (UTI) |
| PGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue | Responses submitted 12/3/2014 9:07:26. Show responses |
| Timestamp | 12/3/2014 9:07:26 |
| Have you ever been diagnosed with any of the following conditions? | Dandruff, Allergic contact dermatitis, Rosacea, Keloids, Skin tags, Hair loss (includes female and male pattern baldness), Cafe au lait spots |
| PGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue | Responses submitted 12/3/2014 9:08:43. Show responses |
| Timestamp | 12/3/2014 9:08:43 |
| Have you ever been diagnosed with any of the following conditions? | Rheumatoid arthritis, Osteoarthritis, Spinal stenosis, Sciatica, Bone spurs, Plantar fasciitis, Fibromyalgia |
| Other condition not listed here? | Ankylosing spondylitis, nails patella syndrome |
| PGP Trait & Disease Survey 2012: Congenital Traits and Anomalies | Responses submitted 12/3/2014 9:09:38. Show responses |
| Timestamp | 12/3/2014 9:09:38 |
| Other condition not listed here? | nails patella syndrome |
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? Not sure
Enrollment History
| Participant ID: | hu5A0C00 |
| Account created: | 2010-10-22 14:36:07 UTC |
| Eligibility screening: | 2010-10-22 15:29:23 UTC (passed v2) |
| Exam: | 2010-10-23 20:23:23 UTC (passed v2) |
| Consent: | 2015-08-06 14:30:28 UTC (passed v20150505) |
| Enrolled: | 2010-10-24 04:16:28 UTC |