Pediatric/Medical Genetics, Ministry of Health (Qatif Central Hospital), EHC/MOH
General information
Personnel
- Zainab Al Masseri, Principal Investigator
Phone: 009660138361000
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 66
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ALDH18A1 | 1 | Feb 10, 2024 |
| ALG12 | 1 | Oct 22, 2023 |
| AMT | 1 | Dec 21, 2022 |
| ASS1 | 1 | Dec 21, 2022 |
| ATAD1 | 1 | Nov 28, 2023 |
| ATP1A1 | 1 | May 18, 2024 |
| ATP1A1-AS1 | 1 | May 18, 2024 |
| BCKDHB | 1 | Mar 7, 2023 |
| BRAF | 1 | Sep 23, 2023 |
| CACNA1S | 1 | Oct 27, 2023 |
| CERT1 | 1 | Jun 7, 2023 |
| COL4A2 | 1 | Feb 21, 2023 |
| CRX | 1 | Jan 9, 2023 |
| CSPP1 | 1 | Feb 4, 2023 |
| CUL3 | 1 | Sep 9, 2024 |
| DYSF | 1 | Jul 2, 2024 |
| EDEM3 | 1 | Dec 14, 2022 |
| ELAC2 | 1 | Dec 21, 2022 |
| FARS2 | 1 | Aug 12, 2023 |
| FBP1 | 1 | Feb 19, 2023 |
| FGFR3 | 1 | Mar 5, 2024 |
| FUCA1 | 1 | Sep 8, 2023 |
| GAA | 2 | Feb 2, 2023 |
| GALC | 1 | Aug 17, 2023 |
| GALT | 1 | Sep 23, 2023 |
| GNS | 1 | Dec 22, 2023 |
| HIBCH | 1 | Dec 21, 2022 |
| IVD | 1 | May 10, 2024 |
| KDM5B | 1 | Apr 22, 2024 |
| KIF1B | 1 | May 18, 2024 |
| LAMA2 | 1 | Oct 27, 2023 |
| LOC106113036 | 1 | Jan 3, 2023 |
| MCOLN1 | 1 | Jul 24, 2024 |
| MOGS | 1 | Jun 21, 2023 |
| MYPN | 1 | Dec 21, 2022 |
| NF1 | 1 | Jan 3, 2023 |
| NFIX | 1 | Feb 21, 2023 |
| NSD2 | 1 | Jul 4, 2023 |
| NUP205 | 1 | Mar 8, 2023 |
| PCCA | 1 | Dec 13, 2022 |
| PCDHG@ | 1 | Jul 13, 2024 |
| PCDHGA1 | 1 | Jul 13, 2024 |
| PCDHGA10 | 1 | Jul 13, 2024 |
| PCDHGA11 | 1 | Jul 13, 2024 |
| PCDHGA12 | 1 | Jul 13, 2024 |
| PCDHGA2 | 1 | Jul 13, 2024 |
| PCDHGA3 | 1 | Jul 13, 2024 |
| PCDHGA4 | 1 | Jul 13, 2024 |
| PCDHGA5 | 1 | Jul 13, 2024 |
| PCDHGA6 | 1 | Jul 13, 2024 |
| PCDHGA7 | 1 | Jul 13, 2024 |
| PCDHGA8 | 1 | Jul 13, 2024 |
| PCDHGA9 | 1 | Jul 13, 2024 |
| PCDHGB1 | 1 | Jul 13, 2024 |
| PCDHGB2 | 1 | Jul 13, 2024 |
| PCDHGB3 | 1 | Jul 13, 2024 |
| PCDHGB4 | 1 | Jul 13, 2024 |
| PCDHGB5 | 1 | Jul 13, 2024 |
| PCDHGB6 | 1 | Jul 13, 2024 |
| PCDHGB7 | 1 | Jul 13, 2024 |
| PCDHGC3 | 1 | Jul 13, 2024 |
| PCDHGC4 | 1 | Jul 13, 2024 |
| PGAP1 | 1 | May 19, 2023 |
| PGAP3 | 1 | Dec 12, 2022 |
| PGK1 | 1 | Feb 21, 2023 |
| PGM1 | 1 | Jan 31, 2023 |
| PIGA | 1 | Nov 4, 2023 |
| PPIB | 1 | Feb 5, 2023 |
| PRX | 1 | Jan 9, 2023 |
| PSMD12 | 1 | Feb 3, 2024 |
| PTEN | 1 | Oct 28, 2023 |
| RAF1 | 2 | May 18, 2024 |
| SCAF4 | 1 | Apr 22, 2024 |
| SLC16A1 | 1 | Jan 9, 2023 |
| SLC16A1-AS1 | 1 | Jan 9, 2023 |
| SLC18A2 | 1 | Dec 21, 2022 |
| SLC22A5 | 1 | Jun 22, 2023 |
| SLC25A4 | 1 | May 24, 2024 |
| SMPD1 | 1 | Jul 22, 2023 |
| SNX22 | 1 | Feb 5, 2023 |
| SPG11 | 1 | Jun 8, 2024 |
| SRCAP | 1 | Dec 13, 2022 |
| STAG1 | 1 | Aug 17, 2023 |
| TTN | 2 | Dec 22, 2023 |
| TTN-AS1 | 2 | Dec 22, 2023 |
| UGT1A | 1 | Feb 25, 2024 |
| UGT1A1 | 1 | Feb 25, 2024 |
| UGT1A10 | 1 | Feb 25, 2024 |
| UGT1A3 | 1 | Feb 25, 2024 |
| UGT1A4 | 1 | Feb 25, 2024 |
| UGT1A5 | 1 | Feb 25, 2024 |
| UGT1A6 | 1 | Feb 25, 2024 |
| UGT1A7 | 1 | Feb 25, 2024 |
| UGT1A8 | 1 | Feb 25, 2024 |
| UGT1A9 | 1 | Feb 25, 2024 |
| ZNF142 | 1 | Jun 22, 2023 |
| ZNF292 | 1 | Nov 4, 2023 |