Leeds Amelogenesis Imperfecta Research Group (University of Leeds), LeedsAIGenetics
General information
Leeds Amelogenesis Imperfecta Research Group, LeedsAIGenetics
University of Leeds
8.17 Wellcome Trust Brenner Building, Beckett Street
Leeds
West Yorkshire
United Kingdom - LS9 7TF
https://medicinehealth.leeds.ac.uk/dir-record/research-groups/936/amelogenesis-research-group
Organization ID: 505736
University of Leeds
8.17 Wellcome Trust Brenner Building, Beckett Street
Leeds
West Yorkshire
United Kingdom - LS9 7TF
https://medicinehealth.leeds.ac.uk/dir-record/research-groups/936/amelogenesis-research-group
Organization ID: 505736
Personnel
- Georgios Nikolopoulos, Contact
Phone: 00441133438445
Email: [email protected] - Claire Smith, Contact
Phone: 00441133438445
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 56
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACP4 | 2 | Feb 23, 2017 |
| AMBN | 5 | May 4, 2023 |
| COL17A1 | 17 | Jul 17, 2023 |
| DLX3 | 2 | Jul 5, 2017 |
| ENAM | 1 | Jan 18, 2017 |
| GATAD1 | 1 | Mar 8, 2016 |
| GPR68 | 3 | Aug 8, 2016 |
| KLK4 | 1 | Feb 16, 2017 |
| LAMB3 | 2 | Mar 16, 2017 |
| LOC126863184 | 1 | Jan 13, 2023 |
| MMP20 | 4 | Jun 12, 2020 |
| MMP20-AS1 | 3 | Jun 12, 2020 |
| PEX1 | 2 | Mar 8, 2016 |
| PEX6 | 7 | Mar 8, 2016 |
| PLXNB2 | 8 | Jan 13, 2023 |
| RELT | 2 | Oct 31, 2019 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Amelogenesis imperfecta | 3 | Aug 8, 2016 |
| Amelogenesis imperfecta - hypoplastic autosomal dominant - local | 1 | Jan 18, 2017 |
| Amelogenesis imperfecta hypomaturation type 2A2 | 4 | Jun 12, 2020 |
| Amelogenesis imperfecta type 1A | 19 | Jul 17, 2023 |
| Amelogenesis imperfecta type 1F | 5 | May 4, 2023 |
| Amelogenesis imperfecta type 2A1 | 1 | Feb 16, 2017 |
| Amelogenesis imperfecta, type 1J | 2 | Feb 23, 2017 |
| Amelogenesis imperfecta, type 3C | 2 | Oct 31, 2019 |
| Heimler syndrome 1 | 2 | Mar 8, 2016 |
| Heimler syndrome 2 | 7 | Mar 8, 2016 |
| Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | 2 | Jul 5, 2017 |
| See cases | 8 | Jan 13, 2023 |
| Tricho-dento-osseous syndrome | 2 | Jul 5, 2017 |