Public Profile -- hu09D626
Public profile url: https://my.pgp-hms.org/profile/hu09D626
Personal Health Records
None added.Samples
None available.Uploaded data
| Date | Data type | Source | Name | Download | Report | |
|---|---|---|---|---|---|---|
| 2013-03-14 | 23andMe | Participant | Genome full from 23andMe 03142013 |
Download
(23.6 MB) |
Geographic Information
Not added.Family Members Enrolled
None added.Surveys
| PGP Participant Survey | Responses submitted 3/14/2013 12:33:27. Show responses |
|---|---|
| Timestamp | 3/14/2013 12:33:27 |
| Year of birth | 40-49 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. | 1) clinically diagnosed as having Ehlers-Danlos Syndrome 2) was told I had a Emery-Dreifuss Muscular Dystrophy recessive(?) gene - something about SNP 'rs61046466' in the gene 'LMNA lamin A/C' no biological family medical history after birth, but I have had strange symptoms since I was a baby but mainly once I started walking. |
| Disease/trait: Onset | Before 10 years of age |
| Disease/trait: Rarity | 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 | I don't have any genetic testing or documentation for EDS, all documentation in clinical and experience related. this was diagnosed by a doctor and in my medical history. as for the EDMD, this was just brought to my attention when my raw genome data from 23andme was run through openSNP. i was told that i had many rare/uncommon SNPs including one linked to EDMD. I have uploaded this raw data. |
| Sex/Gender | Female |
| Race/ethnicity | White |
| Maternal grandmother: Country of origin | Croatia |
| 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 | Other / don't know / no response |
| Enrollment of relatives | No |
| Enrollment of older individuals | No |
| Enrollment of parents | No |
| Have you uploaded genetic data to your PGP participant profile? | Yes, I have uploaded 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 |
| PGP Trait & Disease Survey 2012: Blood | Responses submitted 3/14/2013 12:36:58. Show responses |
| Timestamp | 3/14/2013 12:36:58 |
| Have you ever been diagnosed with any of the following conditions? | Iron deficiency anemia |
| PGP Trait & Disease Survey 2012: Respiratory System | Responses submitted 3/14/2013 12:38:40. Show responses |
| Timestamp | 3/14/2013 12:38:40 |
| Have you ever been diagnosed with any of the following conditions? | Chronic tonsillitis, Allergic rhinitis |
| PGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue | Responses submitted 3/14/2013 12:39:44. Show responses |
| Timestamp | 3/14/2013 12:39:44 |
| Have you ever been diagnosed with any of the following conditions? | Eczema, Allergic contact dermatitis, Acne |
| PGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue | Responses submitted 3/14/2013 12:40:47. Show responses |
| Timestamp | 3/14/2013 12:40:47 |
| Have you ever been diagnosed with any of the following conditions? | Osteoarthritis, Spinal stenosis, Frozen shoulder, Tennis elbow, Bone spurs, Plantar fasciitis |
| Other condition not listed here? | Ehlers-Danlos Syndrome |
| PGP Trait & Disease Survey 2012: Genitourinary Systems | Responses submitted 3/14/2013 12:41:43. Show responses |
| Timestamp | 3/14/2013 12:41:43 |
| Have you ever been diagnosed with any of the following conditions? | Urinary tract infection (UTI), Fibrocystic breast disease, Bartholin's cyst, Endometriosis |
| Other condition not listed here? | vulvodynia |
| PGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity | Responses submitted 3/14/2013 12:42:13. Show responses |
| Timestamp | 3/14/2013 12:42:13 |
| PGP Trait & Disease Survey 2012: Cancers | Responses submitted 3/14/2013 12:42:37. Show responses |
| Timestamp | 3/14/2013 12:42:37 |
| PGP Trait & Disease Survey 2012: Respiratory System | Responses submitted 3/14/2013 12:44:18. Show responses |
| Timestamp | 3/14/2013 12:44:18 |
| Have you ever been diagnosed with any of the following conditions? | Chronic tonsillitis, Allergic rhinitis |
| PGP Trait & Disease Survey 2012: Congenital Traits and Anomalies | Responses submitted 3/14/2013 12:49:51. Show responses |
| Timestamp | 3/14/2013 12:49:51 |
| Have you ever been diagnosed with any of the following conditions? | Ehlers-Danlos syndrome |
| PGP Trait & Disease Survey 2012: Digestive System | Responses submitted 3/14/2013 12:51:28. Show responses |
| Timestamp | 3/14/2013 12:51:28 |
| Have you ever been diagnosed with any of the following conditions? | Impacted tooth, Dental cavities, Canker sores (oral ulcers), Gastroesophageal reflux disease (GERD), Hiatal hernia, Irritable bowel syndrome (IBS) |
Absolute Pitch Survey [see all responses]
Can tell if notes are in tune: Not sure
Can sing a melody on key: Yes
Can recognize musical intervals: Yes
Do you have absolute pitch? No
Enrollment History
| Participant ID: | hu09D626 |
| Account created: | 2013-03-11 16:26:31 UTC |
| Eligibility screening: | 2013-03-11 16:28:47 UTC (passed v2) |
| Exam: | 2013-03-11 17:01:13 UTC (passed v20120430) |
| Consent: | 2015-08-06 14:33:20 UTC (passed v20150505) |
| Enrolled: | 2013-03-13 13:50:02 UTC |