Department of Pediatrics, Division of Medical Genetics (Faculty of Medicine Ramathibodi Hospital, Mahidol University), PDGEN-RA
General information
Personnel
- Saisuda Noojaroen, Staff
Phone: 66915514449
Email: fernsaisuda@gmail.com - Thipwimol Tim-Aroon, Staff
Phone: 66818022436
Email: thipwimol.tim@mahidol.ac.th - Duangrurdee Wattanasirichaigoon, Medical Director
Phone: 6622012782
Email: duangrurdee.wat@mahidol.ac.th
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 49
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AP1S2 | 1 | Dec 9, 2020 |
| COL7A1 | 1 | Sep 25, 2021 |
| DUOX2 | 4 | May 27, 2020 |
| DUOXA2 | 2 | Jul 13, 2020 |
| GAA | 6 | Jul 25, 2019 |
| GBA1 | 3 | Jun 4, 2020 |
| HEXB | 1 | Dec 22, 2019 |
| ITGB4 | 1 | Sep 25, 2021 |
| LAMC2 | 1 | Oct 25, 2021 |
| LOC106627981 | 3 | Jun 4, 2020 |
| MT-ND6 | 1 | Mar 17, 2022 |
| MT-RNR2 | 1 | Mar 17, 2022 |
| PAX8 | 3 | May 15, 2020 |
| PAX8-AS1 | 3 | May 15, 2020 |
| PET100 | 1 | Jan 22, 2023 |
| PKP2 | 1 | Jan 13, 2021 |
| PLEC | 1 | Sep 25, 2021 |
| POLR2F | 6 | May 27, 2020 |
| SLC5A5 | 1 | May 29, 2020 |
| SOX10 | 6 | May 27, 2020 |
| STXBP2 | 1 | Jan 22, 2023 |
| TCN2 | 1 | Oct 18, 2021 |
| TG | 2 | May 27, 2020 |
| TSHR | 2 | Jun 16, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Abnormality of the mitochondrion | 1 | Jan 22, 2023 |
| Cardiomyopathy | 1 | Jan 13, 2021 |
| Epidermolysis bullosa simplex 5C, with pyloric atresia | 1 | Sep 25, 2021 |
| Gaucher disease type I | 3 | Jun 4, 2020 |
| Glycogen storage disease, type II | 6 | Jul 25, 2019 |
| Hypothyroidism due to TSH receptor mutations | 2 | Jun 16, 2020 |
| Hypothyroidism, congenital, nongoitrous, 2 | 3 | May 15, 2020 |
| Iodotyrosyl coupling defect | 2 | May 27, 2020 |
| Junctional epidermolysis bullosa with pyloric atresia | 1 | Sep 25, 2021 |
| Junctional epidermolysis bullosa, non-Herlitz type | 1 | Oct 25, 2021 |
| Mitochondrial inheritance | 11 | Mar 27, 2022 |
| PCWH syndrome | 3 | May 27, 2020 |
| Pancytopenia | 1 | Oct 18, 2021 |
| Pettigrew syndrome | 1 | Dec 9, 2020 |
| Recessive dystrophic epidermolysis bullosa | 1 | Sep 25, 2021 |
| Sandhoff disease | 1 | Dec 22, 2019 |
| Thyroglobulin synthesis defect | 2 | Jul 13, 2020 |
| Thyroid dyshormonogenesis 1 | 1 | May 29, 2020 |
| Thyroid dyshormonogenesis 6 | 4 | May 27, 2020 |
| Waardenburg syndrome type 2E | 2 | May 27, 2020 |
| Waardenburg syndrome type 4C | 1 | May 27, 2020 |