Laboratory of NeuroGenetics and Regenerative Medicine (University of Maryland School of Medicine)
General information
Personnel
- Zubair Ahmed, Principal Investigator
Phone: 410-706-3799
Email: zmahmed@som.umaryland.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 14
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AIPL1 | 1 | Jul 7, 2020 |
| ARL3 | 1 | Feb 7, 2019 |
| CDH23 | 1 | Sep 28, 2018 |
| ESPN | 1 | Sep 9, 2018 |
| FOXE3 | 1 | May 26, 2020 |
| GJA3 | 1 | Aug 16, 2021 |
| GUCY2D | 1 | May 26, 2020 |
| LINC01389 | 1 | May 26, 2020 |
| MERTK | 1 | May 26, 2020 |
| METTL5 | 2 | Sep 6, 2019 |
| PCDH15 | 1 | Sep 28, 2018 |
| SOX4 | 1 | Apr 15, 2021 |
| TBCEL-TECTA | 1 | Sep 28, 2018 |
| TECTA | 1 | Sep 28, 2018 |
| TMC1 | 1 | Sep 28, 2018 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss 12 | 1 | Sep 28, 2018 |
| Autosomal recessive nonsyndromic hearing loss 21 | 1 | Sep 28, 2018 |
| Autosomal recessive nonsyndromic hearing loss 23 | 1 | Sep 28, 2018 |
| Autosomal recessive nonsyndromic hearing loss 7 | 1 | Sep 28, 2018 |
| Cataract 14 multiple types | 1 | Aug 16, 2021 |
| Congenital primary aphakia | 1 | May 26, 2020 |
| Intellectual disability | 1 | Apr 15, 2021 |
| Intellectual disability, severe | 2 | Sep 6, 2019 |
| Leber congenital amaurosis 1 | 1 | May 26, 2020 |
| Leber congenital amaurosis 4 | 1 | Jul 7, 2020 |
| Progressive cone degeneration | 1 | Feb 7, 2019 |
| Retinitis pigmentosa 38 | 1 | May 26, 2020 |
| Usher syndrome type 1 | 1 | Sep 9, 2018 |