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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

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 9

Gene

GeneSubmissionsLast Updated
MAFB4Mar 11, 2016
MYF52May 3, 2018
TUBA1A3Dec 7, 2020

Condition

NameSubmissionsLast Updated
Abnormal rib morphology2May 3, 2018
Congenital bilateral perisylvian syndrome2Dec 7, 2020
Congenital fibrosis of extraocular muscles3Dec 7, 2020
Duane retraction syndrome 24Mar 11, 2016
Duane syndrome type 14Mar 11, 2016
External ophthalmoplegia2May 3, 2018
Scoliosis2May 3, 2018

Testing in GTR

Disease nameNumber of tests
Abducens nerve disorder1 test
Bosley-Salih-Alorainy syndrome1 test
Congenital Fibrosis of the Extraocular Muscles 41 test
Congenital fibrosis of extraocular muscles1 test
Congenital fibrosis of extraocular muscles type 11 test
Duane retraction syndrome1 test
Duane retraction syndrome 21 test
Duane syndrome type 11 test
Duane-radial ray syndrome1 test
Facial paresis, hereditary congenital, 11 test
Familial congenital palsy of trochlear nerve1 test
Fibrosis of extraocular muscles, congenital, 21 test
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1 test
Fibrosis of extraocular muscles, congenital, 3b1 test
Fibrosis of extraocular muscles, congenital, 3c1 test
Fibrosis of extraocular muscles, congenital, with synergistic divergence1 test
Horizontal gaze palsy with progressive scoliosis1 test
Human HOXA1 syndromes1 test
Jaw-winking syndrome1 test
Oromandibular-limb hypogenesis spectrum1 test
Ptosis, hereditary congenital, 11 test
Strabismus, susceptibility to1 test
Tukel syndrome1 test