Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry
(Chulalongkorn University), GPDRU
General information
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, GPDRU
Chulalongkorn University
34 Henri Dunant Rd. Pathumwan
Bangkok
Krung Thep
Thailand - 10330
Organization ID: 507398
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 46
Gene
| Gene | Submissions | Last Updated |
|---|
| ALPL | 2 | Dec 10, 2021 |
| AXIN2 | 2 | Aug 11, 2021 |
| BMP1 | 2 | Oct 4, 2021 |
| CNNM4 | 1 | Feb 28, 2022 |
| COL1A2 | 2 | Apr 27, 2020 |
| CRTAP | 2 | Oct 4, 2021 |
| DSPP | 2 | Sep 19, 2023 |
| EDARADD | 1 | Jun 8, 2020 |
| EFNB1 | 1 | Feb 10, 2020 |
| ELANE | 1 | Jul 5, 2022 |
| FAM20A | 4 | Jun 22, 2022 |
| FGFR3 | 2 | Dec 9, 2021 |
| HMGCS2 | 2 | Mar 25, 2020 |
| IDH1 | 1 | Aug 25, 2023 |
| ITGB6 | 2 | Jan 12, 2022 |
| KDF1 | 1 | Sep 28, 2023 |
| LOC130059892 | 1 | Oct 4, 2021 |
| LRP6 | 1 | Aug 12, 2021 |
| LTBP3 | 2 | Dec 9, 2021 |
| NEUROG3 | 2 | Dec 7, 2021 |
| PAX9 | 2 | Jul 22, 2021 |
| POLG | 2 | May 13, 2020 |
| POLGARF | 2 | May 13, 2020 |
| PRKAR1A | 4 | Jun 22, 2022 |
| PYCR2 | 2 | May 12, 2020 |
| RUNX2 | 5 | Mar 6, 2022 |
| SERPINF1 | 1 | Oct 4, 2021 |
| WNT10A | 1 | Jun 8, 2020 |
Condition
| Name | Submissions | Last Updated | | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 2 | Mar 25, 2020 |
| Achondroplasia | 1 | Dec 9, 2021 |
| Amelogenesis imperfecta type 1G | 4 | Jun 22, 2022 |
| Amelogenesis imperfecta type 1H | 2 | Jan 12, 2022 |
| Brachyolmia-amelogenesis imperfecta syndrome | 1 | Dec 9, 2021 |
| Childhood hypophosphatasia | 2 | Dec 10, 2021 |
| Childhood myocerebrohepatopathy spectrum | 2 | May 13, 2020 |
| Cleidocranial dysostosis | 5 | Mar 6, 2022 |
| Congenital malabsorptive diarrhea 4 | 2 | Dec 7, 2021 |
| Craniofrontonasal syndrome | 1 | Feb 10, 2020 |
| Dentinogenesis imperfecta type 2 | 2 | Sep 19, 2023 |
| Geleophysic dysplasia 3 | 1 | Dec 9, 2021 |
| Glioma susceptibility 1 | 1 | Aug 25, 2023 |
| Hypochondroplasia | 1 | Dec 9, 2021 |
| Hypomyelinating leukodystrophy 10 | 2 | May 12, 2020 |
| Jalili syndrome | 1 | Feb 28, 2022 |
| Neutropenia, severe congenital, 1, autosomal dominant | 1 | Jul 5, 2022 |
| Oligodontia-cancer predisposition syndrome | 2 | Aug 11, 2021 |
| Osteogenesis imperfecta type 13 | 2 | Oct 4, 2021 |
| Osteogenesis imperfecta type 6 | 1 | Oct 4, 2021 |
| Osteogenesis imperfecta type 7 | 2 | Oct 4, 2021 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 2 | Apr 27, 2020 |
| Partial congenital absence of teeth | 1 | Sep 28, 2023 |
| Tooth agenesis | 1 | Jun 8, 2020 |
| Tooth agenesis, selective, 3 | 2 | Jul 22, 2021 |
| Tooth agenesis, selective, 4 | 1 | Jun 8, 2020 |
| Tooth agenesis, selective, 7 | 1 | Aug 12, 2021 |
