Centre of Medical Genetics
(University of Antwerp)
General information
Centre of Medical Genetics
University of Antwerp
Organization ID: 505486
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 417
Gene
| Gene | Submissions | Last Updated |
|---|
| ACTA2 | 1 | Nov 21, 2021 |
| ARHGAP31 | 1 | Apr 19, 2018 |
| BGN | 7 | Nov 21, 2021 |
| CEP57 | 1 | Mar 6, 2020 |
| COL2A1 | 1 | Aug 26, 2020 |
| CTR9 | 11 | Jun 21, 2021 |
| DES | 1 | Jan 12, 2022 |
| DLL4 | 16 | Apr 19, 2018 |
| DOCK6 | 2 | Apr 19, 2018 |
| DSG2 | 1 | Feb 11, 2021 |
| DSG2-AS1 | 1 | Feb 11, 2021 |
| ELAC2 | 1 | Mar 6, 2020 |
| EOGT | 4 | Oct 31, 2018 |
| FBN1 | 294 | Nov 21, 2021 |
| FLNA | 3 | Nov 21, 2021 |
| HNRNPH1 | 1 | Mar 6, 2020 |
| IPO8 | 8 | Mar 18, 2021 |
| JAG1 | 2 | May 31, 2022 |
| KCNMA1 | 2 | Nov 21, 2020 |
| KCNMA1-AS1 | 1 | Nov 21, 2020 |
| KCNQ1 | 1 | Feb 11, 2021 |
| KCNQ1OT1 | 1 | Feb 11, 2021 |
| LOC113939944 | 2 | Nov 21, 2021 |
| LOC126807011 | 1 | Apr 19, 2018 |
| LOC126860794 | 2 | Apr 19, 2018 |
| LOC126861140 | 3 | Jun 21, 2021 |
| LOC126862124 | 7 | Nov 21, 2021 |
| LOC128966623 | 1 | Mar 6, 2020 |
| LOX | 5 | May 20, 2021 |
| NOTCH1 | 19 | Apr 19, 2018 |
| RBPJ | 3 | Apr 19, 2018 |
| RNASEH2B | 1 | Feb 25, 2021 |
| SAMHD1 | 1 | Feb 25, 2021 |
| SCN5A | 2 | Apr 2, 2020 |
| SMAD3 | 1 | Nov 21, 2021 |
| SMAD6 | 9 | Sep 13, 2022 |
| SRFBP1 | 5 | May 20, 2021 |
| TBX20 | 4 | Nov 14, 2018 |
| TGFBR2 | 4 | Nov 21, 2021 |
Condition
| Name | Submissions | Last Updated | | 5q35 microduplication syndrome | 1 | Mar 6, 2020 |
| Adams-Oliver syndrome | 9 | Jul 27, 2015 |
| Adams-Oliver syndrome 1 | 1 | Apr 19, 2018 |
| Adams-Oliver syndrome 2 | 2 | Apr 19, 2018 |
| Adams-Oliver syndrome 3 | 3 | Apr 19, 2018 |
| Adams-Oliver syndrome 4 | 4 | Oct 31, 2018 |
| Adams-Oliver syndrome 5 | 19 | Apr 19, 2018 |
| Adams-Oliver syndrome 6 | 7 | Apr 19, 2018 |
| Alagille syndrome due to a JAG1 point mutation | 1 | Jun 14, 2021 |
| Aneurysm-osteoarthritis syndrome | 1 | Nov 21, 2021 |
| Aortic aneurysm, familial thoracic 10 | 5 | May 20, 2021 |
| Aortic aneurysm, familial thoracic 6 | 1 | Nov 21, 2021 |
| Aortic valve disease 1 | 19 | Jun 4, 2020 |
| Brugada syndrome | 2 | Apr 2, 2020 |
| CTR9-related neurodevelopmental disorder | 11 | Jun 21, 2021 |
| Cerebral palsy | 2 | Feb 25, 2021 |
| Chromosome 22q11.2 deletion syndrome, distal | 1 | Mar 6, 2020 |
| Combined oxidative phosphorylation defect type 17 | 1 | Mar 6, 2020 |
| Craniosynostosis 7 | 2 | Sep 13, 2022 |
| Desmin-related myofibrillar myopathy | 1 | Jan 12, 2022 |
| Familial thoracic aortic aneurysm and aortic dissection | 6 | May 31, 2022 |
| Heterotopia, periventricular, X-linked dominant | 3 | Nov 21, 2021 |
| IPO8-related aortopathy | 8 | Mar 18, 2021 |
| Intellectual disability, X-linked, syndromic, Bain type | 1 | Mar 6, 2020 |
| KCNMA1-related disorders | 1 | Nov 21, 2020 |
| Liang-Wang syndrome | 1 | Nov 21, 2020 |
| Loeys-Dietz syndrome 2 | 4 | Nov 21, 2021 |
| Marfan syndrome | 294 | Nov 21, 2021 |
| Meester-Loeys syndrome | 2 | Nov 21, 2021 |
| Mosaic variegated aneuploidy syndrome 2 | 1 | Mar 6, 2020 |
| Sudden cardiac death | 2 | Feb 11, 2021 |
| Type 2 collagenopathy | 1 | Aug 26, 2020 |
