Genetics Laboratory - UDIAT Centre Diagnòstic (Hospital Universitari Parc Tauli), Parc_Tauli
General information
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 15
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ASXL3 | 1 | Jul 16, 2019 |
| HSF2 | 1 | Jul 16, 2019 |
| KCNQ3 | 1 | Jul 16, 2019 |
| KIF1A | 1 | Jul 16, 2019 |
| LAS1L | 1 | Jul 16, 2019 |
| LOC126806462 | 1 | Jul 16, 2019 |
| LOC126806878 | 2 | Jul 16, 2019 |
| RMND1 | 2 | Jul 16, 2019 |
| SATB2 | 1 | Jul 16, 2019 |
| SLC6A1 | 1 | Jul 16, 2019 |
| SMARCE1 | 1 | Jul 16, 2019 |
| SPTAN1 | 1 | Jul 16, 2019 |
| SYNGAP1 | 1 | Jul 16, 2019 |
| SYNGAP1-AS1 | 1 | Jul 16, 2019 |
| TBL1XR1 | 2 | Jul 16, 2019 |
| TBL1XR1-AS1 | 2 | Jul 16, 2019 |
| VAMP2 | 1 | Jul 16, 2019 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Chromosome 2q32-q33 deletion syndrome | 1 | Jul 16, 2019 |
| Coffin-Siris syndrome 5 | 1 | Jul 16, 2019 |
| Combined oxidative phosphorylation defect type 11 | 2 | Jul 16, 2019 |
| Developmental and epileptic encephalopathy, 5 | 1 | Jul 16, 2019 |
| Intellectual disability, autosomal dominant 41 | 2 | Jul 16, 2019 |
| Intellectual disability, autosomal dominant 5 | 1 | Jul 16, 2019 |
| Intellectual disability, autosomal dominant 9 | 1 | Jul 16, 2019 |
| Myoclonic-astatic epilepsy | 1 | Jul 16, 2019 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Jul 16, 2019 |
| Severe neurodevelopmental delay | 2 | Jul 16, 2019 |
| Wilson-Turner syndrome | 1 | Jul 16, 2019 |
| not provided | 1 | Jul 16, 2019 |