Raymond Lab (University of Cambridge)
General information
Personnel
- Frances Raymond, Principal Investigator
Phone: 44123762609
Email: flr24@cam.ac.uk
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 33
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCD1 | 1 | Mar 12, 2019 |
| ACSL4 | 1 | Mar 12, 2019 |
| AFF2 | 1 | Mar 12, 2019 |
| ARX | 1 | Mar 12, 2019 |
| ATRX | 1 | Mar 12, 2019 |
| BCS1L | 2 | Mar 12, 2019 |
| BRWD3 | 1 | Mar 12, 2019 |
| DLG3 | 1 | Mar 12, 2019 |
| DLG3-AS1 | 1 | Mar 12, 2019 |
| GJC2 | 1 | Mar 12, 2019 |
| GRIA3 | 1 | Mar 12, 2019 |
| INCA1 | 1 | Mar 12, 2019 |
| KIF1C | 1 | Mar 12, 2019 |
| MED12 | 1 | Mar 12, 2019 |
| MPZ | 1 | Mar 12, 2019 |
| PQBP1 | 1 | Mar 12, 2019 |
| SATB2 | 1 | Mar 12, 2019 |
| SLC2A1 | 3 | Mar 12, 2019 |
| SLC9A6 | 1 | Mar 12, 2019 |
| SNHG14 | 1 | Mar 12, 2019 |
| SPG7 | 2 | Mar 12, 2019 |
| SPR | 1 | Mar 12, 2019 |
| SYT1 | 5 | Jul 6, 2018 |
| TCF20 | 1 | Mar 12, 2019 |
| UBE3A | 1 | Mar 12, 2019 |
| USP27X | 1 | Mar 12, 2019 |
| ZNF711 | 1 | Mar 12, 2019 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Intellectual disability | 28 | Mar 12, 2019 |
| SYT1-associated neurodevelopmental disorder | 5 | Jul 6, 2018 |