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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: 89

Gene

GeneSubmissionsLast Updated
ARHGAP354Nov 2, 2022
ARID1A1Jun 24, 2022
FOXC125Jun 23, 2022
FOXE314May 11, 2021
KDM5C1Jan 13, 2023
KDM6A1Jan 13, 2023
KMT2C1Jan 13, 2023
KMT2D6Jan 13, 2023
LINC0138914May 11, 2021
LOC1082811771Jun 24, 2022
LOC1268608091Sep 21, 2021
LOC1299956016Jun 23, 2022
PITX229Jun 23, 2022
RARB1Jan 15, 2024
SETD1A1Jan 13, 2023
SHH1Jun 24, 2022
SOX21Jun 24, 2022
SOX2-OT1Jun 24, 2022
WDR373Sep 21, 2021

Condition

NameSubmissionsLast Updated
Anophthalmia1Nov 2, 2022
Axenfeld-Rieger syndrome type 129Jun 23, 2022
Axenfeld-Rieger syndrome type 325Jun 23, 2022
Bilateral microphthalmos1Nov 2, 2022
Cataract 34 multiple types2May 11, 2021
Congenital primary aphakia12May 11, 2021
Irido-corneo-trabecular dysgenesis1Nov 2, 2022
Kabuki syndrome 16Jan 13, 2023
Kabuki syndrome 21Jan 13, 2023
Kleefstra syndrome 21Jan 13, 2023
Microphthalmia, syndromic 121Jan 15, 2024
Neurodevelopmental disorder with speech impairment and dysmorphic facies1Jan 13, 2023
Neurooculocardiogenitourinary syndrome3Sep 21, 2021
Septo-optic dysplasia sequence3Jun 24, 2022
Syndromic X-linked intellectual disability Claes-Jensen type1Jan 13, 2023
Unilateral microphthalmos1Nov 2, 2022

Testing in GTR

Disease nameNumber of tests
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome1 test
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 syndrome1 test
Axenfeld-Rieger syndrome type 11 test
Axenfeld-Rieger syndrome type 21 test
Axenfeld-Rieger syndrome type 31 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 361 test
Cataract 381 test
Cataract 39 multiple types1 test
Cataract 9 multiple types1 test
Cataracts, Autosomal Dominant1 test
Coloboma of optic nerve1 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 3, primary infantile, B1 test
Glaucoma type 1C1 test
Irido-corneo-trabecular dysgenesis2 tests
Iris hypoplasia with glaucoma1 test
Isolated microphthalmia 11 test
Leber congenital amaurosis1 test
Myopia1 test
Neuroocular syndrome1 test
Neurooculocardiogenitourinary syndrome1 test
Peters plus syndrome1 test
Primary open angle glaucoma2 tests
Retinitis pigmentosa1 test
Rieger anomaly1 test
Ring dermoid of cornea1 test
SHORT syndrome1 test
Stargardt disease1 test
Usher syndrome type 11 test
Walker-Warburg congenital muscular dystrophy1 test