Department of Pediatrics, Division of Medical Genetics (Faculty of Medicine Ramathibodi Hospital, Mahidol University), PDGEN-RA
General information
Department of Pediatrics, Division of Medical Genetics, PDGEN-RA
Faculty of Medicine Ramathibodi Hospital, Mahidol University
270 Rama 6 Rd
Bangkok
Thailand - 10400
Organization ID: 507098
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 75
Gene
| Gene | Submissions | Last Updated |
|---|
| ACTG2 | 1 | Oct 20, 2025 |
| AP1S2 | 1 | Dec 9, 2020 |
| COL11A2 | 1 | Aug 6, 2025 |
| COL7A1 | 1 | Sep 25, 2021 |
| CYB5R3 | 1 | Jun 17, 2025 |
| DMD | 1 | Nov 19, 2024 |
| 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 |
| HRAS | 1 | Oct 29, 2025 |
| IGF1R | 1 | Mar 26, 2025 |
| ITGB4 | 1 | Sep 25, 2021 |
| LAMC2 | 1 | Oct 25, 2021 |
| LAMP2 | 1 | Nov 19, 2024 |
| LOC106627981 | 3 | Jun 4, 2020 |
| LRRC56 | 1 | Oct 29, 2025 |
| MITF | 1 | Mar 26, 2025 |
| MT-CYB | 7 | Mar 27, 2022 |
| MT-ND6 | 1 | Mar 17, 2022 |
| MT-RNR2 | 1 | Mar 17, 2022 |
| MYO15A | 1 | Mar 26, 2025 |
| MYO7A | 1 | Mar 27, 2025 |
| NHLRC2 | 1 | Dec 11, 2025 |
| OTOF | 1 | Mar 26, 2025 |
| PAX3 | 1 | Mar 26, 2025 |
| PAX8 | 3 | May 15, 2020 |
| PAX8-AS1 | 3 | May 15, 2020 |
| PCDH15 | 1 | Mar 26, 2025 |
| PDHA1 | 1 | Mar 26, 2025 |
| PET100 | 1 | Jan 22, 2023 |
| PKP2 | 1 | Jan 13, 2021 |
| PLEC | 1 | Sep 25, 2021 |
| POLR2F | 6 | May 27, 2020 |
| POU3F4 | 2 | Mar 26, 2025 |
| PTCH2 | 1 | Nov 19, 2024 |
| SLC26A4 | 1 | Mar 26, 2025 |
| SLC5A5 | 1 | May 29, 2020 |
| SOX10 | 6 | May 27, 2020 |
| SOX4 | 1 | Mar 26, 2025 |
| STXBP2 | 1 | Jan 22, 2023 |
| TBC1D32 | 2 | Mar 12, 2025 |
| TCN2 | 1 | Oct 18, 2021 |
| TG | 2 | May 27, 2020 |
| TMPRSS3 | 2 | Mar 27, 2025 |
| TPM1 | 1 | Nov 19, 2024 |
| TSHR | 2 | Jun 16, 2020 |
| TSHR-AS1 | 2 | Jun 16, 2020 |
| TTN | 1 | Nov 19, 2024 |
| TTN-AS1 | 1 | Nov 19, 2024 |
Condition
| Name | Submissions | Last Updated | | Abnormality of the mitochondrion | 1 | Jan 22, 2023 |
| Autosomal recessive nonsyndromic hearing loss 2 | 1 | Mar 27, 2025 |
| Autosomal recessive nonsyndromic hearing loss 23 | 1 | Mar 26, 2025 |
| Autosomal recessive nonsyndromic hearing loss 3 | 1 | Mar 26, 2025 |
| Autosomal recessive nonsyndromic hearing loss 8 | 2 | Mar 27, 2025 |
| Autosomal recessive nonsyndromic hearing loss 9 | 1 | Mar 26, 2025 |
| Cardiomyopathy | 1 | Jan 13, 2021 |
| Coffin-Siris syndrome 10 | 1 | Mar 26, 2025 |
| Danon disease | 1 | Nov 19, 2024 |
| Deficiency of cytochrome-b5 reductase | 1 | Jun 17, 2025 |
| Dilated cardiomyopathy 1G | 1 | Nov 19, 2024 |
| Dilated cardiomyopathy 3B | 1 | Nov 19, 2024 |
| Duplication of the pituitary gland | 1 | Nov 19, 2024 |
| Epidermolysis bullosa simplex 5C, with pyloric atresia | 1 | Sep 25, 2021 |
| Fibrosis, neurodegeneration, and cerebral angiomatosis | 1 | Dec 11, 2025 |
| Gaucher disease type I | 3 | Jun 4, 2020 |
| Glycogen storage disease, type II | 6 | Jul 25, 2019 |
| Growth delay due to insulin-like growth factor I resistance | 1 | Mar 26, 2025 |
| Hypertrophic cardiomyopathy 3 | 1 | Nov 19, 2024 |
| 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 |
| Isolated optic nerve hypoplasia | 2 | Mar 12, 2025 |
| 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 |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | 1 | Aug 6, 2025 |
| PCWH syndrome | 3 | May 27, 2020 |
| Pancytopenia | 1 | Oct 18, 2021 |
| Pendred syndrome | 1 | Mar 26, 2025 |
| Pettigrew syndrome | 1 | Dec 9, 2020 |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 | Mar 26, 2025 |
| 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 |
| Usher syndrome type 1F | 1 | Mar 26, 2025 |
| Vascular malformation | 1 | Oct 29, 2025 |
| Visceral myopathy 1 | 1 | Oct 20, 2025 |
| Waardenburg syndrome type 1 | 1 | Mar 26, 2025 |
| Waardenburg syndrome type 2A | 1 | Mar 26, 2025 |
| Waardenburg syndrome type 2E | 2 | May 27, 2020 |
| Waardenburg syndrome type 4C | 1 | May 27, 2020 |
| X-linked mixed hearing loss with perilymphatic gusher | 2 | Mar 26, 2025 |
