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
- Claire Smith, Contact
Phone: 00441133438445
Email: bgycels@leeds.ac.uk
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 67
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACP4 | 6 | Jan 27, 2026 |
| AMBN | 5 | May 4, 2023 |
| AMELX | 1 | Mar 19, 2026 |
| ARHGAP6 | 1 | Mar 19, 2026 |
| COL17A1 | 17 | Jul 17, 2023 |
| DLX3 | 2 | Jul 5, 2017 |
| ENAM | 2 | Mar 19, 2026 |
| GATAD1 | 1 | Mar 8, 2016 |
| GPR68 | 3 | Aug 8, 2016 |
| KLK4 | 1 | Feb 16, 2017 |
| LAMB3 | 3 | Mar 19, 2026 |
| LOC126863184 | 1 | Jan 13, 2023 |
| MMP20 | 4 | Jun 12, 2020 |
| MMP20-AS1 | 3 | Jun 12, 2020 |
| PEX1 | 2 | Mar 8, 2016 |
| PEX6 | 8 | Mar 19, 2026 |
| PLXNB2 | 8 | Jan 13, 2023 |
| RELT | 2 | Oct 31, 2019 |
| WDR72 | 2 | Mar 19, 2026 |
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 hypomaturation type 2A3 | 3 | Jun 29, 2026 |
| Amelogenesis imperfecta type 1A | 20 | Mar 19, 2026 |
| Amelogenesis imperfecta type 1C | 1 | Mar 19, 2026 |
| Amelogenesis imperfecta type 1E | 1 | Mar 19, 2026 |
| Amelogenesis imperfecta type 1F | 5 | May 4, 2023 |
| Amelogenesis imperfecta type 2A1 | 1 | Feb 16, 2017 |
| Amelogenesis imperfecta, type 1J | 6 | Jan 27, 2026 |
| Amelogenesis imperfecta, type 3C | 2 | Oct 31, 2019 |
| Heimler syndrome 1 | 2 | Mar 8, 2016 |
| Heimler syndrome 2 | 8 | Mar 19, 2026 |
| Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | 2 | Jul 5, 2017 |
| See cases | 8 | Jan 13, 2023 |
| Tricho-dento-osseous syndrome | 2 | Jul 5, 2017 |