Engle Laboratory (Boston Children's Hospital)
General information
Engle Laboratory
Boston Children's Hospital
CSL14076
3 Blackfan Circle
Boston
Massachusetts
United States - 02115
https://kirbyneuro.org/EngleLab/
Organization ID: 18646
Boston Children's Hospital
CSL14076
3 Blackfan Circle
Boston
Massachusetts
United States - 02115
https://kirbyneuro.org/EngleLab/
Organization ID: 18646
Personnel
- Brenda Barry, Genetic Counselor
Phone: 617-919-2168
Email: brenda.barry2@childrens.harvard.edu - Elizabeth Engle, Principal Investigator
Phone: 6179194030
Email: elizabeth.engle@childrens.harvard.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 9
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Abnormal rib morphology | 2 | May 3, 2018 |
| Congenital bilateral perisylvian syndrome | 2 | Dec 7, 2020 |
| Congenital fibrosis of extraocular muscles | 3 | Dec 7, 2020 |
| Duane retraction syndrome 2 | 4 | Mar 11, 2016 |
| Duane syndrome type 1 | 4 | Mar 11, 2016 |
| External ophthalmoplegia | 2 | May 3, 2018 |
| Scoliosis | 2 | May 3, 2018 |
Testing in GTR
| Disease name | Number of tests |
|---|---|
| Abducens nerve disorder | 1 test |
| Bosley-Salih-Alorainy syndrome | 1 test |
| Congenital Fibrosis of the Extraocular Muscles 4 | 1 test |
| Congenital fibrosis of extraocular muscles | 1 test |
| Congenital fibrosis of extraocular muscles type 1 | 1 test |
| Duane retraction syndrome | 1 test |
| Duane retraction syndrome 2 | 1 test |
| Duane syndrome type 1 | 1 test |
| Duane-radial ray syndrome | 1 test |
| Facial paresis, hereditary congenital, 1 | 1 test |
| Familial congenital palsy of trochlear nerve | 1 test |
| Fibrosis of extraocular muscles, congenital, 2 | 1 test |
| Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 1 test |
| Fibrosis of extraocular muscles, congenital, 3b | 1 test |
| Fibrosis of extraocular muscles, congenital, 3c | 1 test |
| Fibrosis of extraocular muscles, congenital, with synergistic divergence | 1 test |
| Gaze palsy, familial horizontal, with progressive scoliosis 1 | 1 test |
| Human HOXA1 syndromes | 1 test |
| Jaw-winking syndrome | 1 test |
| Oromandibular-limb hypogenesis spectrum | 1 test |
| Ptosis, hereditary congenital, 1 | 1 test |
| Strabismus, susceptibility to | 1 test |
| Tukel syndrome | 1 test |