Human Developmental Genetics Laboratory (Medical College of Wisconsin), HGDL
General information
Human Developmental Genetics Laboratory, HGDL
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
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: [email protected] - Elena Semina, Principal Investigator
Phone: 414-955-2218
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 90
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ARHGAP35 | 4 | Nov 2, 2022 |
| ARID1A | 1 | Jun 24, 2022 |
| FOXC1 | 25 | Jun 23, 2022 |
| FOXE3 | 14 | May 11, 2021 |
| KDM5C | 1 | Jan 13, 2023 |
| KDM6A | 1 | Jan 13, 2023 |
| KMT2C | 1 | Jan 13, 2023 |
| KMT2D | 6 | Jan 13, 2023 |
| LINC01389 | 14 | May 11, 2021 |
| LOC108281177 | 1 | Jun 24, 2022 |
| LOC126860809 | 1 | Sep 21, 2021 |
| LOC129995601 | 6 | Jun 23, 2022 |
| PITX2 | 29 | Jun 23, 2022 |
| RARB | 1 | Jan 15, 2024 |
| SETD1A | 1 | Jan 13, 2023 |
| SHH | 1 | Jun 24, 2022 |
| SOX2 | 1 | Jun 24, 2022 |
| SOX2-OT | 1 | Jun 24, 2022 |
| WDR37 | 3 | Sep 21, 2021 |
| ZFHX4 | 1 | Nov 14, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Anophthalmia | 1 | Nov 2, 2022 |
| Axenfeld-Rieger syndrome type 1 | 29 | Jun 23, 2022 |
| Axenfeld-Rieger syndrome type 3 | 25 | Jun 23, 2022 |
| Bilateral microphthalmos | 1 | Nov 2, 2022 |
| Cataract 34 multiple types | 2 | May 11, 2021 |
| Congenital corneal opacity | 1 | Nov 14, 2024 |
| Congenital primary aphakia | 12 | May 11, 2021 |
| Irido-corneo-trabecular dysgenesis | 1 | Nov 2, 2022 |
| Kabuki syndrome 1 | 6 | Jan 13, 2023 |
| Kabuki syndrome 2 | 1 | Jan 13, 2023 |
| Kleefstra syndrome 2 | 1 | Jan 13, 2023 |
| Microphthalmia, syndromic 12 | 1 | Jan 15, 2024 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 1 | Jan 13, 2023 |
| Neurooculocardiogenitourinary syndrome | 3 | Sep 21, 2021 |
| Septo-optic dysplasia sequence | 3 | Jun 24, 2022 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Jan 13, 2023 |
| Unilateral microphthalmos | 1 | Nov 2, 2022 |
Testing in GTR
| Disease name | Number of tests |
|---|---|
| Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | 1 test |
| Aniridia 1 | 1 test |
| Anophthalmia | 1 test |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 test |
| Anterior segment dysgenesis 1 | 1 test |
| Anterior segment dysgenesis 4 | 1 test |
| Axenfeld anomaly | 1 test |
| Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities | 1 test |
| Axenfeld-Rieger syndrome | 1 test |
| Axenfeld-Rieger syndrome type 1 | 1 test |
| Axenfeld-Rieger syndrome type 2 | 1 test |
| Axenfeld-Rieger syndrome type 3 | 1 test |
| Bardet-Biedl syndrome | 1 test |
| Cataract 13 with adult I phenotype | 1 test |
| Cataract 26 multiple types | 1 test |
| Cataract 34 multiple types | 1 test |
| Cataract 35 | 1 test |
| Cataract 36 | 1 test |
| Cataract 38 | 1 test |
| Cataract 39 multiple types | 1 test |
| Cataract 9 multiple types | 1 test |
| Cataracts, Autosomal Dominant | 1 test |
| Coloboma of optic nerve | 1 test |
| Congenital ocular coloboma | 1 test |
| Congenital primary aphakia | 1 test |
| Glaucoma 1, open angle, A | 2 tests |
| Glaucoma 1, open angle, B | 1 test |
| Glaucoma 1, open angle, D | 1 test |
| Glaucoma 1, open angle, F | 1 test |
| Glaucoma 1, open angle, G | 1 test |
| Glaucoma 1, open angle, H | 1 test |
| Glaucoma 1, open angle, I | 2 tests |
| Glaucoma 1, open angle, J | 1 test |
| Glaucoma 1, open angle, K | 1 test |
| Glaucoma 1, open angle, M | 1 test |
| Glaucoma 1, open angle, N | 2 tests |
| Glaucoma 1, open angle, O | 1 test |
| Glaucoma 3, primary infantile, B | 1 test |
| Glaucoma type 1C | 1 test |
| Irido-corneo-trabecular dysgenesis | 2 tests |
| Iris hypoplasia with glaucoma | 1 test |
| Isolated microphthalmia 1 | 1 test |
| Leber congenital amaurosis | 1 test |
| Myopia | 1 test |
| Neuroocular syndrome | 1 test |
| Neurooculocardiogenitourinary syndrome | 1 test |
| Peters plus syndrome | 1 test |
| Primary open angle glaucoma | 2 tests |
| Retinitis pigmentosa | 1 test |
| Rieger anomaly | 1 test |
| Ring dermoid of cornea | 1 test |
| SHORT syndrome | 1 test |
| Stargardt disease | 1 test |
| Usher syndrome type 1 | 1 test |
| Walker-Warburg congenital muscular dystrophy | 1 test |