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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)
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