Pediatric/Medical Genetics, Ministry of Health (Qatif Central Hospital), EHC/MOH
General information
Personnel
- Zainab Al Masseri, Principal Investigator
Phone: 009660138361000
Email: zainab.almasseri@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 53
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 |
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 |
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 |
LAMA2 | 1 | Oct 27, 2023 |
LOC106113036 | 1 | Jan 3, 2023 |
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 |
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 | 1 | Dec 12, 2022 |
SLC16A1 | 1 | Jan 9, 2023 |
SLC16A1-AS1 | 1 | Jan 9, 2023 |
SLC18A2 | 1 | Dec 21, 2022 |
SLC22A5 | 1 | Jun 22, 2023 |
SMPD1 | 1 | Jul 22, 2023 |
SNX22 | 1 | Feb 5, 2023 |
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 |