Phenosystems SA
General information
Phenosystems SA
Sentier des communs 1
Blonay
Switzerland - 1807
http://www.phenosystems.com
Organization ID: 508099
Sentier des communs 1
Blonay
Switzerland - 1807
http://www.phenosystems.com
Organization ID: 508099
Personnel
- David Atlan, CEO
Phone: +41225481400
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 35
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA1 | 3 | Nov 11, 2021 |
| APOB | 1 | Dec 2, 2022 |
| BSCL2 | 4 | Dec 2, 2022 |
| CASZ1 | 1 | Nov 8, 2021 |
| CDCA8 | 1 | Nov 8, 2021 |
| DIP2C | 1 | Dec 4, 2022 |
| DMD | 3 | Aug 15, 2024 |
| F13B | 1 | Nov 19, 2021 |
| F5 | 2 | Nov 19, 2021 |
| FAM110C | 2 | Nov 3, 2021 |
| GBP1 | 1 | Nov 8, 2021 |
| GNG3 | 3 | Nov 11, 2021 |
| HNF1A | 3 | Nov 11, 2021 |
| HNRNPUL2-BSCL2 | 4 | Dec 2, 2022 |
| LPIN1 | 1 | Mar 29, 2022 |
| PCSK9 | 3 | Dec 2, 2022 |
| PERM1 | 2 | Nov 8, 2021 |
| RABGAP1L | 1 | Nov 19, 2021 |
| SAMD11 | 1 | Nov 8, 2021 |
| STIL | 1 | Nov 8, 2021 |
| TUBB8 | 1 | Dec 4, 2022 |
| ZBTB37 | 2 | Nov 19, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Achondroplasia | 1 | Aug 15, 2024 |
| Aplasia/Hypoplasia of the phalanges of the 4th toe | 4 | Dec 4, 2022 |
| Breast carcinoma | 3 | Nov 11, 2021 |
| Cholesteatoma | 6 | Nov 19, 2021 |
| Color vision defect | 2 | Dec 4, 2022 |
| Hyperchloremia | 1 | Mar 29, 2022 |
| Isolated systolic hypertension | 2 | Dec 2, 2022 |
| Neutrophil inclusion bodies | 6 | Nov 8, 2021 |
| Neutrophilia in presence of infection | 2 | Dec 2, 2022 |
| Reduced delayed hypersensitivity | 3 | Nov 8, 2021 |
| Renal tubular epithelial cell apoptosis | 1 | Nov 8, 2021 |
| Short fetal femur length | 3 | Dec 2, 2022 |
| Streaky metaphyseal sclerosis | 4 | Dec 4, 2022 |
| Symphalangism affecting the proximal phalanx of the 4th finger | 3 | Nov 9, 2021 |
| Triangular shaped proximal phalanx of the thumb | 2 | Dec 2, 2022 |