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

Testing in GTR

Disease nameNumber of tests
Abducens nerve palsy1 test
Bosley-Salih-Alorainy syndrome1 test
Congenital Fibrosis of the Extraocular Muscles 41 test
Congenital fibrosis of extraocular muscles1 test
Duane retraction syndrome1 test
Duane retraction syndrome 21 test
Duane syndrome type 11 test
Duane-radial ray syndrome1 test
Familial congenital palsy of trochlear nerve1 test
Fibrosis of extraocular muscles, congenital, 11 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
Gaze palsy, familial horizontal, with progressive scoliosis 11 test
Hereditary congenital facial paresis 11 test
Human HOXA1 syndromes1 test
Jaw-winking syndrome1 test
Oromandibular-limb hypogenesis spectrum1 test
Ptosis, hereditary congenital 11 test
Susceptibility to strabismus1 test
Tukel syndrome1 test
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