Instituto de Investigación Sanitaria (Pfizer-University of Granada-Junta de Andalucia Centre for Genomics and Oncological Research)
General information
Instituto de Investigación Sanitaria
Pfizer-University of Granada-Junta de Andalucia Centre for Genomics and Oncological Research
Avenida de la Ilustracion
Granada
Spain - 18007
http://www.genyo.es/en
Organization ID: 505200
Pfizer-University of Granada-Junta de Andalucia Centre for Genomics and Oncological Research
Avenida de la Ilustracion
Granada
Spain - 18007
http://www.genyo.es/en
Organization ID: 505200
Personnel
- Jose Lopez-Escamez, Lab Director
Phone: +34958715500 ext160
Email: antonio.lopezescamez@genyo.es
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 48
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ADGRV1 | 2 | Jun 22, 2021 |
| C10orf105 | 1 | Jun 22, 2021 |
| CDH23 | 2 | Jun 22, 2021 |
| CENPP | 1 | May 13, 2022 |
| CLCN3 | 1 | Sep 3, 2016 |
| DPT | 1 | Mar 3, 2016 |
| DTNA | 1 | May 15, 2014 |
| ELF2 | 1 | Aug 3, 2017 |
| FAM136A | 1 | May 15, 2014 |
| FRMPD3 | 1 | May 13, 2022 |
| GABRR2 | 1 | Sep 3, 2016 |
| GCC2 | 1 | Sep 3, 2016 |
| GRHL2 | 1 | Sep 3, 2016 |
| MYO7A | 9 | Dec 18, 2020 |
| NEIL3 | 1 | May 13, 2022 |
| OTOG | 10 | Feb 24, 2020 |
| PCDH15 | 1 | Jun 22, 2021 |
| PHF7 | 1 | Sep 3, 2016 |
| PIPOX | 1 | May 13, 2022 |
| PPP1R1A | 1 | May 13, 2022 |
| PRICKLE3 | 1 | Sep 3, 2016 |
| PRKCB | 1 | Feb 23, 2016 |
| SEMA3D | 1 | Mar 3, 2016 |
| SHROOM2 | 1 | Jun 22, 2021 |
| TBCEL-TECTA | 5 | Jan 25, 2022 |
| TECTA | 5 | Jan 25, 2022 |
| USH1C | 1 | Jun 22, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | 1 | Aug 3, 2017 |
| Low-frequency hearing loss | 5 | May 13, 2022 |
| Low-frequency sensorineural hearing impairment | 5 | May 13, 2022 |
| Meniere disease | 33 | Jan 25, 2022 |
| Progressive sensorineural hearing impairment | 9 | Sep 3, 2016 |