Public Profile -- hu27FD1F
Public profile url: https://my-dev.pgp-hms.org/profile/hu27FD1F
Personal Health Records
Demographic Information
| Date of Birth | 1942-04-07 (83 years old) |
|---|---|
| Gender | Female |
| Weight | |
| Height | 5ft 7in (170cm) |
| Blood Type | O+ |
| Race | White |
Conditions
| Name | Start Date | End Date |
|---|---|---|
| advanced sleep phase syndrome | ||
| ASTHMA | 1946-01-01 | 1952-01-01 |
| Astigmatism | ||
| Cervical Dysplasia | 1988-01-01 | 1988-01-01 |
| Hearing Loss | 1950-01-01 | |
| Hypertension | 2006-01-01 | |
| Nearsightedness | 1952-01-01 | |
| Obesity | ||
| Osteoarthritis | ||
| Snoring | ||
| Tendinitis |
Medications
| Name | Dosage | Frequency | Start Date | End Date |
|---|---|---|---|---|
| Lisinopril | 20 mg Tablet | Take 1, 1 time per day | 2006-01-01 | |
| Omega-3 Fatty Acids | 1,000 mg Capsule | Take 1, 1 time per day | 2009-01-01 | |
| Relafen | 750 mg Tablet | Take 1, 2 times per day | 2008-01-01 | |
| Vitamin D | 1,000 unit Capsule | Take 2, 1 time per day in the morning | 2010-05-01 |
Allergies
| Name | Reaction/Severity | Start Date | End Date |
|---|
Procedures
| Name | Date |
|---|---|
| Knee Arthroscopy | |
| Knee Replacement | |
| MR Knee - Without Contrast |
Test Results
| Name | Result | Date |
|---|---|---|
| Height | 67 inches | 2009-08-05 |
Immunizations
| Name | Date |
|---|
Updated: 2010-10-12T11:39:04.415Z
Samples
| Saliva Collection Pilot Study for 100 participants |
Sample
72259845
(saliva)
received
2011-12-02 20:46:22 UTC
by Harvard University / TeloMe, Inc..
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Sample
49063258
(saliva)
received
2011-12-02 20:19:12 UTC
by Harvard University / TeloMe, Inc..
Show log
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Sample
49557819
(saliva)
mailed
2011-08-24 03:03:15 UTC
by
hu27FD1F.
Show log
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| Saliva Collection for Multiple Studies |
Sample
90064225
(saliva)
mailed
2012-01-17 10:13:41 UTC
by
hu27FD1F.
Show log
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Sample
30602864
(saliva)
mailed
2012-01-17 10:13:41 UTC
by
hu27FD1F.
Show log
|
Uploaded data
| Date | Data type | Source | Name | Download | Report | |
|---|---|---|---|---|---|---|
| 23andMe | Participant | LF5489.vcf.gz |
Download
(6.51 MB) |
|||
| 23andMe | Participant | LF5489.bai |
Download
(5.93 MB) |
|||
| 23andMe | Participant | LF5489.report.pdf |
Download
(787 KB) |
|||
| 23andMe | Participant | LF5489.bam |
Download
(3.63 GB) |
|||
| 2011-03-03 | 23andMe | Participant | v2 Illumina 550K plus custom "i" SNPs |
Download
(4.84 MB) |
Geographic Information
| State: | California |
Family Members Enrolled
None added.Surveys
| PGP Participant Survey | Responses submitted 7/17/2011 13:19:37. Show responses |
|---|---|
| Timestamp | 7/17/2011 13:19:37 |
| Year of birth | 70-79 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. | Autosomal dominant non-syndromic progressive sensorineural hearing impairment. It is detectable in early childhood and progresses gradually to the point where cochlear implants are indicated in older family members. Our extended family has participated in several genetic studies, but the gene has not been identified. By testing at 23andMe for six relatives with the impairment and several without, I have been able to narrow down the region to about 16Mb on chromosome 15. I also have father/mother/child data for phasing and I can identify the haplotype. None of the 50+ genes currently implicated in hearing loss are found in this region, and in fact, no genes clearly identified with hearing function in general. Identification of the mutation in our family would thus contribute to the understanding of genes important for normal function. |
| Disease/trait: Onset | Before 10 years of age |
| Disease/trait: Rarity | Uncommon |
| Disease/trait: Severity | Very severe disease |
| Disease/trait: Relative enrollment | Maybe |
| Disease/trait: Diagnosis | Yes |
| Disease/trait: Genetic confirmation | No |
| Disease/trait: Documentation | Yes |
| Disease/trait: Documentation description | A set of audiograms for various family members at different ages (with names redacted) |
| 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 | No |
| Enrollment of older individuals | Yes |
| Enrollment of parents | No |
| 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? | No |
| Have you uploaded health record data using our Google Health or Microsoft Healthvault interfaces? | Yes |
| Uploaded health records: Update status | Yes |
| Uploaded health records: Extensiveness | 3 |
| Blood sample | Yes |
| Saliva sample | Yes |
| Microbiome samples | Yes |
| Tissue samples from surgery | No |
| Tissue samples from autopsy | Yes |
Absolute Pitch Survey
Survey not taken.Enrollment History
| Participant ID: | hu27FD1F |
| Account created: | 2009-05-29 14:50:40 UTC |
| Eligibility screening: | Not passed yet. |
| Exam: | 2009-05-29 15:19:12 UTC (passed v1) |
| Consent: | 2015-08-06 14:05:26 UTC (passed v20150505) |
| Enrolled: | 2010-10-10 16:12:37 UTC |
