Public Profile -- hu97762A
Public profile url: https://my.pgp-hms.org/profile/hu97762A
Personal Health Records
None added.Samples
None available.Uploaded data
| Date | Data type | Source | Name | Download | Report | |
|---|---|---|---|---|---|---|
| 2016-05-06 | Veritas Genetics | Participant | 5WHMES1 - VCF |
Download
(408 MB) |
View ClinVar report View GET-Evidence report |
|
| 2016-05-06 | Veritas Genetics | Participant | 5WHMES1 - BAM |
Download
(28.4 GB) |
||
| 2007-01-01 | genetic data - Testing4Health | Participant | Testing4Health gene results 3 |
Download
(22.6 KB) |
||
| 2006-01-01 | genetic data - Sciona | Participant | Sciona genetic data |
Download
(1.66 MB) |
||
| 2006-01-01 | genetic data - Testing4Health | Participant | Testing4Health genetic data |
Download
(896 KB) |
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| 2005-11-01 | genetic data - Testing4Health | Participant | Testing4Health gene results 2 |
Download
(21.9 KB) |
Geographic Information
Not added.Family Members Enrolled
| parent | linked 2012-08-02 01:01:45 UTC |
Surveys
| PGP Participant Survey | Responses submitted 8/3/2012 17:48:45. Show responses |
|---|---|
| Timestamp | 8/3/2012 17:48:45 |
| 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. | Myalgic Encephalomyelitis (ICD-9-CM code 323.9) Dysautonomia (Postural Orthostatic Tachycardia Syndrome & Neurally Mediated Hypotension) Primary Immune Deficiency (undetectable IgA) chronic Lyme disease (neuroborreliosis) |
| Disease/trait: Onset | 20-29 years of age |
| Disease/trait: Rarity | Uncommon |
| Disease/trait: Severity | Very severe disease |
| Disease/trait: Relative enrollment | No |
| Disease/trait: Diagnosis | Yes |
| Disease/trait: Genetic confirmation | No |
| Disease/trait: Documentation | Yes |
| Disease/trait: Documentation description | abnormal SPECT scan modified tilt table testing multiple IgA <6 positive serology & PCRs for tick-borne and other infections LMW protein in RNase-L |
| Sex/Gender | Female |
| Race/ethnicity | 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 | Yes |
| Enrollment of older individuals | No |
| Enrollment of parents | Yes |
| Enrolled relatives [Monozygotic / Identical twins] | 0 |
| Enrolled relatives [Parents] | 1 |
| Enrolled relatives [Siblings / Fraternal twins] | 0 |
| Enrolled relatives [Children] | 0 |
| Enrolled relatives [Grandparents] | 0 |
| Enrolled relatives [Grandchildren] | 0 |
| Enrolled relatives [Aunts/Uncles] | 0 |
| Enrolled relatives [Nephews/Nieces] | 0 |
| Enrolled relatives [Half-siblings] | 0 |
| Enrolled relatives [Cousins or more distant] | 0 |
| Enrolled relatives [Not genetically related (e.g. husband/wife)] | 0 |
| Are all your enrolled relatives linked to your PGP profile? | Yes |
| Have you uploaded genetic data to your PGP participant profile? | No, but I have genetic data and plan to upload it |
| 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: Not sure
Can recognize musical intervals: Yes
Do you have absolute pitch? No
Enrollment History
| Participant ID: | hu97762A |
| Account created: | 2012-07-21 21:55:15 UTC |
| Eligibility screening: | 2012-07-21 22:25:50 UTC (passed v2) |
| Exam: | 2012-07-24 16:02:15 UTC (passed v20120430) |
| Consent: | 2015-08-06 14:32:18 UTC (passed v20150505) |
| Enrolled: | 2012-07-26 14:02:18 UTC |
