Laboratory of Metabolic Disorders (Peking University First Hospital), PKU
General information
Personnel
- Dongxiao Li, Staff
Phone: +8618810533757
Email: lidongxiao@bjmu.edu.cn - Xiujuan Wei, Staff
Phone: +8615958581502
Email: 1825592421@qq.com - Yanling Yang, Principal Investigator
Phone: +8613911689892
Email: yanlingy@bjmu.edu.cn
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 98
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ADAMTSL2 | 2 | Jun 17, 2017 |
| AGPAT2 | 2 | May 11, 2018 |
| ALDH5A1 | 12 | Jun 24, 2023 |
| BSCL2 | 4 | May 11, 2018 |
| CPS1 | 11 | Jan 9, 2023 |
| FASTKD2 | 3 | Dec 6, 2019 |
| GPLD1 | 2 | Jun 24, 2023 |
| HNRNPUL2-BSCL2 | 4 | May 11, 2018 |
| LOC126806484 | 2 | Dec 6, 2019 |
| LOC126860980 | 1 | Feb 24, 2023 |
| LOC129995978 | 2 | Jun 24, 2023 |
| MAT1A | 11 | Feb 24, 2023 |
| PCCA | 18 | May 9, 2019 |
| PCCB | 11 | May 9, 2019 |
| SERAC1 | 1 | Dec 27, 2021 |
| SLC19A3 | 5 | Sep 14, 2017 |
| SLC25A19 | 4 | Sep 14, 2017 |
| SMPD1 | 7 | Nov 12, 2015 |
| SURF1 | 4 | Apr 5, 2018 |
| TPK1 | 2 | Sep 14, 2017 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 1 | Dec 27, 2021 |
| Biotin-responsive basal ganglia disease | 6 | Jan 7, 2020 |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 2 | Sep 14, 2017 |
| Congenital generalized lipodystrophy type 1 | 2 | May 11, 2018 |
| Congenital generalized lipodystrophy type 2 | 4 | May 11, 2018 |
| Congenital hyperammonemia, type I | 11 | Jan 9, 2023 |
| Geleophysic dysplasia 1 | 2 | Jun 17, 2017 |
| Hepatic methionine adenosyltransferase deficiency | 11 | Feb 24, 2023 |
| Leigh syndrome | 7 | Dec 6, 2019 |
| Niemann-Pick disease, type A | 7 | Nov 12, 2015 |
| Progressive demyelinating neuropathy with bilateral striatal necrosis | 4 | Sep 14, 2017 |
| Propionic acidemia | 29 | May 9, 2019 |
| Succinate-semialdehyde dehydrogenase deficiency | 12 | Jun 24, 2023 |