Hereditary Hearing Loss Research Unit (University of Madras)
General information
Hereditary Hearing Loss Research Unit
University of Madras
Dept. of Genetics, Dr. Almpg Institute of Basic Medical Sciences, Taramani Campus
Chennai
India - 600113
http://www.unom.ac.in/
Organization ID: 505964
University of Madras
Dept. of Genetics, Dr. Almpg Institute of Basic Medical Sciences, Taramani Campus
Chennai
India - 600113
http://www.unom.ac.in/
Organization ID: 505964
Personnel
- SRIKUMARI SRISAILAPATHY, Principal Investigator
Phone: 9840305341
Email: crsrikumari.hhl@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 19
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| BDP1 | 1 | Feb 22, 2020 |
| COL4A3 | 1 | Jan 30, 2020 |
| DIAPH3 | 1 | Nov 10, 2020 |
| GIPC3 | 2 | Mar 19, 2021 |
| KCNE1 | 1 | Jan 30, 2020 |
| LOC129933770 | 1 | Jul 15, 2020 |
| MFF-DT | 1 | Jan 30, 2020 |
| MYO15A | 2 | Jul 17, 2020 |
| ODAD2 | 2 | Feb 22, 2020 |
| PGK1 | 1 | Apr 11, 2019 |
| PNPT1 | 2 | Jul 15, 2020 |
| POLR2F | 1 | Mar 11, 2019 |
| PTPRQ | 1 | Jul 17, 2020 |
| SLC12A2 | 1 | Jul 15, 2020 |
| SLC26A4 | 1 | Oct 28, 2016 |
| SOX10 | 1 | Mar 11, 2019 |
| SOX30 | 1 | Feb 22, 2020 |
| ZMYND15 | 1 | Jan 30, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant auditory neuropathy 1 | 1 | Nov 10, 2020 |
| Autosomal recessive nonsyndromic hearing loss 15 | 1 | Mar 19, 2021 |
| Autosomal recessive nonsyndromic hearing loss 3 | 2 | Jul 17, 2020 |
| Autosomal recessive nonsyndromic hearing loss 70 | 2 | Jul 15, 2020 |
| Autosomal recessive nonsyndromic hearing loss 84A | 1 | Jul 17, 2020 |
| Deafness | 1 | Feb 22, 2020 |
| Hearing loss, autosomal recessive | 1 | Oct 28, 2016 |
| Hereditary hearing loss and deafness | 2 | Jan 30, 2020 |
| Long QT syndrome | 1 | Jan 30, 2020 |
| Male infertility | 4 | Feb 22, 2020 |
| Male infertility due to obstructive azoospermia | 1 | Apr 11, 2019 |
| Primary ciliary dyskinesia | 2 | Feb 22, 2020 |
| Sensorineural hearing loss disorder | 2 | Jul 15, 2020 |
| Spermatogenic failure 14 | 1 | Jan 30, 2020 |
| Waardenburg syndrome type 4A | 1 | Mar 11, 2019 |