Centre de Genetique Humaine (Institut de Pathologie et de Genetique)
General information
Centre de Genetique Humaine
Institut de Pathologie et de Genetique
Gosselies
Hainaut
Belgium - 6041
http://www.ipg.be/fr/activites-31.htm
Organization ID: 217783
Institut de Pathologie et de Genetique
Gosselies
Hainaut
Belgium - 6041
http://www.ipg.be/fr/activites-31.htm
Organization ID: 217783
Personnel
- Isabelle Maystadt, Principal Investigator
Phone: +3271447181
Email: isabelle.maystadt@ipg.be
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 20
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 2 | Nov 10, 2023 |
| Autosomal dominant isolated somatotropin deficiency | 1 | Aug 24, 2022 |
| Bethlem myopathy 1A | 1 | Jul 28, 2022 |
| Citrullinemia type I | 3 | Dec 26, 2023 |
| Cobalamin C disease | 1 | Feb 29, 2024 |
| Coffin-Siris syndrome 6 | 1 | Mar 29, 2022 |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 1 | Aug 11, 2021 |
| Lethal multiystemic syndrome | 1 | Nov 10, 2020 |
| Lynch syndrome 4 | 1 | Sep 1, 2022 |
| Mandibular hypoplasia-deafness-progeroid syndrome | 1 | Jan 15, 2021 |
| Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | 1 | Nov 22, 2023 |
| Peripheral neuropathy | 1 | Sep 29, 2022 |
| Peroxisome biogenesis disorder 4A (Zellweger) | 2 | Aug 23, 2022 |
| Pseudohypoparathyroidism | 1 | Aug 3, 2022 |
| Spinal muscular atrophy with congenital bone fractures 1 | 2 | Oct 19, 2021 |