Genome Medicine (Institute for Basic Research in Developmental Disabilities)
General information
Personnel
- Gholson Lyon, Principal Investigator
Phone: 646-872-1219
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 62
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cerebellar ataxia | 1 | May 7, 2020 |
| Intellectual disability, X-linked, syndromic 33 | 36 | Aug 9, 2022 |
| KBG syndrome | 21 | Aug 30, 2022 |
| Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | 2 | Oct 19, 2021 |
| Spinocerebellar ataxia type 29 | 1 | Jun 8, 2023 |
| Striatonigral degeneration, childhood-onset | 1 | Jul 23, 2019 |