Department Of Genetics, Sultan Qaboos University Hospital (Sultan Qaboos University), SQUH-Genetics
General information
Department Of Genetics, Sultan Qaboos University Hospital, SQUH-Genetics
Sultan Qaboos University
Al-khod
Muscat
Oman - 123
https://www.squ.edu.om/medicine/Departments/Genetics/About-Genetics
Organization ID: 506653
Sultan Qaboos University
Al-khod
Muscat
Oman - 123
https://www.squ.edu.om/medicine/Departments/Genetics/About-Genetics
Organization ID: 506653
Personnel
- Almundher Al-Maawali, Medical Director
Phone: 0096824143544
Email: almaawali@squ.edu.om
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 277
Gene
Gene | Submissions | Last Updated |
---|---|---|
AARS1 | 1 | Sep 20, 2022 |
AARS2 | 1 | Oct 25, 2018 |
ABCA4 | 1 | Oct 25, 2018 |
ABCB11 | 2 | Dec 6, 2023 |
ACADM | 1 | Dec 6, 2023 |
ACADVL | 1 | Oct 25, 2018 |
AGA | 1 | Oct 25, 2018 |
AGL | 1 | Oct 25, 2018 |
AGXT | 2 | Oct 25, 2018 |
AIRE | 1 | Jun 13, 2024 |
ALDH3A2 | 1 | Oct 25, 2018 |
ALDH7A1 | 1 | Jun 13, 2024 |
ALOX12B | 2 | Oct 25, 2018 |
ALOXE3 | 1 | Oct 25, 2018 |
AMT | 2 | Oct 25, 2018 |
ANTXR2 | 1 | Oct 25, 2018 |
APTX | 1 | Sep 20, 2022 |
AR | 1 | Oct 25, 2018 |
ARSA | 1 | Oct 25, 2018 |
ARSB | 1 | Oct 25, 2018 |
ASL | 1 | Oct 25, 2018 |
ASNS | 3 | Mar 7, 2024 |
ASS1 | 1 | Mar 7, 2024 |
ATP6V0A2 | 2 | Oct 25, 2018 |
ATP7B | 1 | Oct 25, 2018 |
ATRIP | 1 | Oct 25, 2018 |
ATRIP-TREX1 | 1 | Oct 25, 2018 |
AXDND1 | 1 | Jun 12, 2024 |
BCKDHA | 3 | Jun 13, 2024 |
BCKDHB | 1 | Oct 25, 2018 |
BEST1 | 1 | Oct 25, 2018 |
BRCA2 | 1 | Oct 25, 2018 |
BRWD3 | 1 | Oct 25, 2018 |
BSCL2 | 3 | Jun 12, 2024 |
C1QTNF5 | 1 | Jun 13, 2024 |
CARS1 | 1 | Nov 13, 2022 |
CAVIN1 | 1 | Oct 25, 2018 |
CBS | 1 | Oct 25, 2018 |
CFTR | 8 | Jun 12, 2024 |
CFTR-AS1 | 1 | Oct 25, 2018 |
CHRNE | 1 | Oct 25, 2018 |
CHRNG | 1 | Oct 25, 2018 |
CHST3 | 1 | Oct 25, 2018 |
CLCN1 | 1 | Oct 25, 2018 |
CLN5 | 1 | Oct 25, 2018 |
CLN6 | 1 | Oct 25, 2018 |
CNGA3 | 1 | Oct 25, 2018 |
COA8 | 1 | Jun 12, 2024 |
COL18A1 | 1 | Oct 25, 2018 |
COL2A1 | 1 | Oct 25, 2018 |
COL7A1 | 1 | Oct 25, 2018 |
CPLANE1 | 1 | Jun 13, 2024 |
CPT2 | 1 | Oct 25, 2018 |
CSTB | 1 | Oct 25, 2018 |
CTSC | 1 | Oct 25, 2018 |
CTSK | 2 | Oct 25, 2018 |
CUL7 | 2 | Oct 25, 2018 |
CYP1B1 | 4 | Jun 12, 2024 |
CZ1P-ASNS | 3 | Mar 7, 2024 |
DBT | 3 | Jun 13, 2024 |
DDHD2 | 1 | Oct 25, 2018 |
DEAF1 | 1 | May 12, 2024 |
DM1-AS | 1 | Oct 25, 2018 |
DMPK | 1 | Oct 25, 2018 |
DNAJB2 | 1 | Oct 25, 2018 |
DSC2 | 1 | Oct 25, 2018 |
DSTYK | 1 | Nov 13, 2022 |
DYSF | 3 | Oct 25, 2018 |
ELANE | 1 | Jun 12, 2024 |
ELMO2 | 1 | Jun 13, 2024 |
EPG5 | 2 | Oct 25, 2018 |
ERCC6 | 1 | Nov 13, 2022 |
ETFDH | 1 | Jun 13, 2024 |
EXOSC2 | 1 | Nov 13, 2022 |
FA2H | 2 | Jun 12, 2024 |
FAH | 2 | Oct 25, 2018 |
FARSB | 1 | Jul 29, 2018 |
FAT4 | 1 | Oct 25, 2018 |
FBN1 | 1 | Dec 6, 2023 |
FBXL3 | 1 | Oct 25, 2018 |
FERMT1 | 2 | Jun 12, 2024 |
FGD1 | 1 | Nov 13, 2022 |
FGFR3 | 2 | Jun 12, 2024 |
FH | 1 | Jun 12, 2024 |
FLVCR2 | 1 | Nov 13, 2022 |
FMR1 | 3 | Oct 25, 2018 |
FMR1-AS1 | 1 | Oct 25, 2018 |
FRAXA | 2 | Oct 25, 2018 |
G6PD | 4 | Jun 12, 2024 |
GALC | 1 | Jun 13, 2024 |
GALNS | 1 | Oct 25, 2018 |
GALT | 1 | Jun 13, 2024 |
GAN | 1 | Oct 25, 2018 |
GCDH | 2 | Jun 12, 2024 |
GDF5 | 1 | Jun 12, 2024 |
GDF5-AS1 | 1 | Jun 12, 2024 |
GJC2 | 1 | Jun 12, 2024 |
GLDC | 2 | Oct 25, 2018 |
GLRA1 | 1 | Oct 25, 2018 |
GM2A | 1 | Oct 25, 2018 |
GNPTG | 1 | Nov 13, 2022 |
GORAB | 1 | Jun 12, 2024 |
GORAB-AS1 | 1 | Jun 12, 2024 |
GPT2 | 2 | Nov 13, 2022 |
GUCY2D | 2 | Oct 25, 2018 |
HEXB | 1 | Oct 25, 2018 |
HNRNPUL2-BSCL2 | 3 | Jun 12, 2024 |
HPS6 | 1 | Oct 25, 2018 |
HR | 1 | Oct 25, 2018 |
HSD11B2 | 4 | Jun 12, 2024 |
HSPG2 | 2 | Oct 25, 2018 |
IDS | 1 | Nov 13, 2022 |
IVD | 3 | Oct 25, 2018 |
JAM3 | 1 | Sep 20, 2022 |
KCNH1 | 1 | Nov 13, 2022 |
KCNQ2 | 1 | Sep 20, 2022 |
KCTD7 | 1 | Oct 25, 2018 |
LAMA2 | 2 | Oct 25, 2018 |
LDLR | 1 | Oct 25, 2018 |
LHX3 | 1 | Oct 25, 2018 |
LIFR | 1 | Jun 12, 2024 |
LINS1 | 1 | Nov 13, 2022 |
LOC105371566 | 2 | Oct 25, 2018 |
LOC106029312 | 1 | Jun 12, 2024 |
LOC106050102 | 1 | Nov 13, 2022 |
LOC107032825 | 2 | Oct 25, 2018 |
LOC107075317 | 1 | Oct 25, 2018 |
LOC111674475 | 1 | Oct 25, 2018 |
LOC113633877 | 1 | Oct 25, 2018 |
LOC126859690 | 1 | Oct 25, 2018 |
LOC126861666 | 1 | Oct 25, 2018 |
LOC129929053 | 2 | Oct 25, 2018 |
LOC129935594 | 1 | Jun 12, 2024 |
LOC129992304 | 1 | Jun 13, 2024 |
LOC130004578 | 1 | Oct 25, 2018 |
LOC130059394 | 1 | Oct 25, 2018 |
LOC130060041 | 1 | Oct 25, 2018 |
LOC130066788 | 1 | Oct 25, 2018 |
LYST | 1 | Oct 25, 2018 |
MAN2B1 | 1 | Oct 25, 2018 |
MBOAT7 | 1 | Jun 13, 2024 |
MCM3AP | 1 | Nov 13, 2022 |
MCOLN1 | 1 | Oct 25, 2018 |
MEFV | 1 | Oct 25, 2018 |
MFRP | 1 | Jun 13, 2024 |
MINPP1 | 1 | Sep 20, 2022 |
MPV17 | 1 | Oct 25, 2018 |
MTHFR | 1 | Oct 25, 2018 |
MTMR2 | 1 | Oct 25, 2018 |
MVP-DT | 1 | Oct 25, 2018 |
MYO15A | 2 | Oct 25, 2018 |
MYO7A | 1 | Oct 25, 2018 |
NAGLU | 2 | Oct 25, 2018 |
NBN | 1 | Oct 25, 2018 |
NCAPG2 | 1 | Nov 13, 2022 |
NCF1 | 1 | Jun 12, 2024 |
NDUFS2 | 1 | Jun 12, 2024 |
NEB | 1 | Oct 25, 2018 |
NEUROD2 | 1 | Nov 13, 2022 |
NHLRC1 | 1 | Oct 25, 2018 |
NICN1 | 1 | Oct 25, 2018 |
NIPBL | 1 | Nov 13, 2022 |
NKX6-2 | 1 | Sep 20, 2022 |
NLGN3 | 1 | Nov 13, 2022 |
NOD2 | 1 | Oct 25, 2018 |
NPC1 | 1 | Oct 25, 2018 |
NPHS2 | 2 | Jun 12, 2024 |
NR0B1 | 1 | Oct 25, 2018 |
NR2E3 | 1 | Oct 25, 2018 |
NRL | 1 | Oct 25, 2018 |
PCCA | 1 | Oct 25, 2018 |
PCCB | 1 | Oct 25, 2018 |
PGAP3 | 1 | Sep 20, 2022 |
PHKG2 | 1 | Oct 25, 2018 |
PIGA | 1 | Jun 13, 2024 |
PKD1 | 1 | Jun 13, 2024 |
PKHD1 | 3 | Dec 30, 2023 |
PLA2G6 | 4 | Sep 20, 2022 |
PLCB4 | 2 | Sep 20, 2022 |
PLP1 | 1 | Sep 20, 2022 |
PNKD | 1 | Jun 12, 2024 |
POC1A | 1 | Oct 25, 2018 |
POLG | 1 | Jun 12, 2024 |
POLGARF | 1 | Jun 12, 2024 |
POLR1C | 1 | Oct 25, 2018 |
POU1F1 | 1 | Sep 20, 2022 |
PRF1 | 4 | Jun 12, 2024 |
PRRT2 | 1 | Oct 25, 2018 |
PTPN23 | 1 | Nov 13, 2022 |
PYCR1 | 1 | Oct 25, 2018 |
PYCR2 | 1 | Jun 13, 2024 |
QDPR | 1 | Jun 13, 2024 |
RAB3GAP1 | 3 | Oct 25, 2018 |
RAB9B | 1 | Sep 20, 2022 |
RAD50 | 1 | Jun 13, 2024 |
RET | 1 | Oct 25, 2018 |
RIF1 | 1 | Oct 25, 2018 |
ROR2 | 2 | Oct 25, 2018 |
RPE65 | 1 | Oct 25, 2018 |
RXYLT1 | 1 | Nov 13, 2022 |
SACS | 4 | Jun 13, 2024 |
SELENON | 1 | Jun 12, 2024 |
SERAC1 | 2 | Jun 13, 2024 |
SHROOM4 | 1 | Nov 13, 2022 |
SIGMAR1 | 1 | Oct 25, 2018 |
SLC19A1 | 1 | Oct 25, 2018 |
SLC25A1 | 1 | Nov 13, 2022 |
SLC37A4 | 1 | Oct 25, 2018 |
SLC4A1 | 1 | Jun 13, 2024 |
SLC52A3 | 2 | Oct 25, 2018 |
SLC6A8 | 2 | Sep 20, 2022 |
SMARCA2 | 1 | Oct 25, 2018 |
SPART | 1 | Oct 25, 2018 |
SPINK1 | 1 | Oct 25, 2018 |
SPINK5 | 1 | Oct 25, 2018 |
SUCLA2 | 1 | Jun 13, 2024 |
SUOX | 1 | Oct 25, 2018 |
SV2A | 1 | Jun 13, 2024 |
TARS2 | 1 | Oct 25, 2018 |
TBCE | 1 | Oct 25, 2018 |
TCF4 | 1 | Sep 20, 2022 |
TGM1 | 2 | Jun 13, 2024 |
THRB | 1 | Oct 25, 2018 |
TMEM138 | 1 | Oct 25, 2018 |
TMEM67 | 1 | Oct 25, 2018 |
TNFRSF1A | 2 | Dec 30, 2023 |
TPO | 2 | Oct 25, 2018 |
TPP1 | 1 | Oct 25, 2018 |
TREX1 | 1 | Oct 25, 2018 |
TRIM37 | 1 | Oct 25, 2018 |
TRMT1 | 2 | Sep 20, 2022 |
TSHR | 1 | Oct 25, 2018 |
UFC1 | 1 | Sep 20, 2022 |
UGP2 | 1 | Sep 20, 2022 |
USH1C | 1 | Nov 13, 2022 |
VPS13B | 1 | Jun 13, 2024 |
WDR19 | 1 | Oct 25, 2018 |
WDR72 | 2 | Oct 25, 2018 |
WNT10B | 1 | Oct 25, 2018 |