Human Developmental Genetics Laboratory (Medical College of Wisconsin)

General information

Human Developmental Genetics Laboratory
Medical College of Wisconsin
8701 Watertown Plank Road
Milwaukee
Wisconsin
United States - 53226
https://www.mcw.edu/departments/pediatrics/divisions/developmental-biology/research/semina-laboratory
Organization ID: 242531

Personnel

  • Linda Reis, Genetic Counselor
    Phone: 414-955-4965
    Email: lreis@mcw.edu
  • Elena Semina, Principal Investigator
    Phone: 414-955-2218
    Email: esemina@mcw.edu

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 17

Gene

GeneSubmissionsLast Updated
FOXE314May 11, 2021
LINC0138914May 11, 2021

Condition

Testing in GTR

Disease nameNumber of tests
Aniridia 11 test
Anophthalmia1 test
Anophthalmia/microphthalmia-esophageal atresia syndrome1 test
Anterior segment dysgenesis 11 test
Anterior segment dysgenesis 41 test
Axenfeld anomaly1 test
Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities1 test
Axenfeld-Rieger syndrome type 11 test
Axenfeld-Rieger syndrome type 21 test
Axenfeld-Rieger syndrome type 31 test
Axenfeld-rieger anomaly1 test
Bardet-Biedl syndrome1 test
Cataract 13 with adult i phenotype1 test
Cataract 26, multiple types1 test
Cataract 34, multiple types1 test
Cataract 351 test
Cataract 39, multiple types1 test
Cataract, autosomal recessive congenital 11 test
Cataract, autosomal recessive congenital 41 test
Cataract, autosomal recessive congenital 51 test
Cataracts, Autosomal Dominant1 test
Coloboma of optic nerve (disease)1 test
Congenital ocular coloboma1 test
Congenital primary aphakia1 test
Glaucoma 1, open angle, A2 tests
Glaucoma 1, open angle, B1 test
Glaucoma 1, open angle, D1 test
Glaucoma 1, open angle, F1 test
Glaucoma 1, open angle, G1 test
Glaucoma 1, open angle, H1 test
Glaucoma 1, open angle, I2 tests
Glaucoma 1, open angle, J1 test
Glaucoma 1, open angle, K1 test
Glaucoma 1, open angle, M1 test
Glaucoma 1, open angle, N2 tests
Glaucoma 1, open angle, O1 test
Glaucoma 1, primary open angle, c1 test
Glaucoma 3, primary infantile, b1 test
Irido-corneo-trabecular dysgenesis2 tests
Iris hypoplasia with glaucoma1 test
Leber congenital amaurosis1 test
Microphthalmia, isolated 11 test
Myopia1 test
Peters plus syndrome1 test
Primary open angle glaucoma2 tests
Retinitis pigmentosa1 test
Rieger syndrome1 test
Ring dermoid of cornea1 test
SHORT syndrome1 test
Stargardt disease1 test
Usher syndrome type 11 test
Walker-Warburg congenital muscular dystrophy1 test
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