Clinical Biochemistry Laboratory (Health Services Laboratories)
General information
Clinical Biochemistry Laboratory
Health Services Laboratories
60 Whitfield St
London
United Kingdom - W1T 4EU
http://www.uclh.nhs.uk/biochemistry
Organization ID: 118451
Health Services Laboratories
60 Whitfield St
London
United Kingdom - W1T 4EU
http://www.uclh.nhs.uk/biochemistry
Organization ID: 118451
Personnel
- Simon Salter, Coordinator
Phone: +44 0203908136
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 523
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AGXT | 286 | Dec 28, 2023 |
| AR | 6 | Dec 5, 2023 |
| CYP11B1 | 18 | Dec 5, 2023 |
| CYP11B2 | 26 | Aug 27, 2024 |
| CYP17A1 | 2 | Dec 5, 2023 |
| GML | 6 | Aug 27, 2024 |
| GRHPR | 63 | Nov 10, 2023 |
| HAO1 | 1 | Dec 5, 2023 |
| HOGA1 | 86 | Nov 10, 2023 |
| HSD17B3 | 14 | Dec 5, 2023 |
| HSD17B3-AS1 | 2 | Dec 5, 2023 |
| HSD3B2 | 8 | Dec 5, 2023 |
| LOC106799833 | 7 | Dec 5, 2023 |
| LOC106799834 | 12 | Aug 27, 2024 |
| LOC109029530 | 1 | Dec 5, 2023 |
| SLC35D2-HSD17B3 | 8 | Dec 5, 2023 |
| SRD5A2 | 13 | Dec 5, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 3 beta-Hydroxysteroid dehydrogenase deficiency | 8 | Dec 5, 2023 |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 13 | Dec 5, 2023 |
| Androgen resistance syndrome | 6 | Dec 5, 2023 |
| CYP11B2-related disorder | 22 | Dec 5, 2023 |
| Corticosterone 18-monooxygenase deficiency | 1 | Dec 5, 2023 |
| Corticosterone methyloxidase type 2 deficiency | 2 | Dec 5, 2023 |
| Deficiency of steroid 11-beta-monooxygenase | 18 | Dec 5, 2023 |
| Deficiency of steroid 17-alpha-monooxygenase | 2 | Dec 5, 2023 |
| Early-onset familial hypoaldosteronism | 1 | Aug 27, 2024 |
| Primary hyperoxaluria type 3 | 86 | Nov 10, 2023 |
| Primary hyperoxaluria, type I | 286 | Dec 28, 2023 |
| Primary hyperoxaluria, type II | 63 | Nov 10, 2023 |
| Testosterone 17-beta-dehydrogenase deficiency | 14 | Dec 5, 2023 |
| glycolate oxidase deficiency | 1 | Dec 5, 2023 |