Genetics Department (Hospital Ramon y Cajal-IRYCIS), GEN-HRyC
General information
Personnel
- Francisco J. del Castillo, Principal Investigator
Phone: 0034913368542
Email: fcastillo@salud.madrid.org - Ignacio del Castillo, Principal Investigator
Phone: 0034913368542
Email: ignacio.castillo@salud.madrid.org - Miguel Moreno-Pelayo, Lab Director
Phone: 0034913368541
Email: mopelayo@hotmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 17
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant nonsyndromic hearing loss 44 | 1 | Dec 30, 2021 |
| Autosomal dominant nonsyndromic hearing loss 68 | 1 | Mar 7, 2021 |
| Autosomal recessive nonsyndromic hearing loss 16 | 4 | Oct 5, 2023 |
| Autosomal recessive nonsyndromic hearing loss 59 | 4 | Dec 27, 2021 |
| Autosomal recessive nonsyndromic hearing loss 89 | 1 | Jun 15, 2024 |
| Metachromatic leukodystrophy | 2 | Sep 27, 2024 |
| Perrault syndrome 2 | 3 | Jun 15, 2024 |
| Perrault syndrome 4 | 1 | Jun 15, 2024 |