Genetics and Molecular Pathology (SA Pathology), GMP-FMC
General information
Genetics and Molecular Pathology, GMP-FMC
SA Pathology
Frome Road
Adelaide
South Australia
Australia - 5043
http://www.sapathology.sa.gov.au/wps/wcm/connect/SA+Pathology+Internet+Content+New/Content/Home
Organization ID: 506043
SA Pathology
Frome Road
Adelaide
South Australia
Australia - 5043
http://www.sapathology.sa.gov.au/wps/wcm/connect/SA+Pathology+Internet+Content+New/Content/Home
Organization ID: 506043
Personnel
- Andrew Dubowsky, Lab Director
Phone: 61 8 8204 6447
Email: andrew.dubowsky@sa.gov.au
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1347
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA3 | 2 | Dec 14, 2022 |
| ABCA4 | 12 | Dec 14, 2022 |
| ABCB11 | 2 | Dec 14, 2022 |
| ABCC2 | 2 | Dec 11, 2022 |
| ABCC9 | 2 | Dec 14, 2022 |
| ABCD1 | 1 | Dec 11, 2022 |
| ABCD4 | 1 | Dec 11, 2022 |
| ABCG5 | 1 | Dec 14, 2022 |
| ABCG8 | 1 | Dec 11, 2022 |
| ABHD5 | 1 | Dec 14, 2022 |
| ABL1 | 1 | Dec 14, 2022 |
| ACAD9 | 1 | Dec 11, 2022 |
| ACADM | 1 | Dec 11, 2022 |
| ACADS | 2 | Dec 14, 2022 |
| ACADSB | 1 | Dec 11, 2022 |
| ACADVL | 4 | Dec 14, 2022 |
| ACAN | 2 | Dec 14, 2022 |
| ACBD5 | 2 | Dec 14, 2022 |
| ACTG2 | 1 | Dec 14, 2022 |
| ACVRL1 | 5 | Dec 14, 2022 |
| ADA2 | 1 | Dec 14, 2022 |
| ADAMTS13 | 2 | Dec 14, 2022 |
| ADAMTSL4 | 3 | Dec 14, 2022 |
| ADAMTSL4-AS2 | 1 | Dec 14, 2022 |
| ADCY5 | 1 | Dec 11, 2022 |
| ADGRV1 | 4 | Dec 14, 2022 |
| AFF4 | 1 | Dec 11, 2022 |
| AGL | 2 | Dec 11, 2022 |
| AGO2 | 1 | Dec 14, 2022 |
| AGRN | 1 | Dec 11, 2022 |
| AHI1 | 1 | Dec 14, 2022 |
| AIPL1 | 1 | Dec 14, 2022 |
| AKT2 | 1 | Dec 14, 2022 |
| ANKRD11 | 5 | Dec 14, 2022 |
| ANKRD26 | 5 | Dec 14, 2022 |
| ANO10 | 2 | Dec 14, 2022 |
| ANO5 | 1 | Dec 14, 2022 |
| AP2S1 | 1 | Dec 14, 2022 |
| AP3B1 | 1 | Dec 14, 2022 |
| AP4S1 | 1 | Dec 14, 2022 |
| APC | 1 | Dec 14, 2022 |
| APOB | 4 | Dec 14, 2022 |
| AR | 2 | Dec 14, 2022 |
| ARCN1 | 2 | Dec 11, 2022 |
| ARHGEF18 | 2 | Dec 14, 2022 |
| ARID1A | 1 | Dec 11, 2022 |
| ARID1B | 1 | Dec 14, 2022 |
| ARL6 | 1 | Dec 11, 2022 |
| ARMC5 | 2 | Dec 14, 2022 |
| ARSL | 1 | Dec 11, 2022 |
| ASAH1 | 1 | Dec 11, 2022 |
| ASPM | 1 | Dec 11, 2022 |
| ASS1 | 2 | Dec 14, 2022 |
| ATAD3A | 1 | Dec 11, 2022 |
| ATM | 8 | Dec 14, 2022 |
| ATP1A3 | 1 | Dec 11, 2022 |
| ATP6AP2 | 1 | Dec 11, 2022 |
| ATP7B | 3 | Dec 11, 2022 |
| ATP8B1 | 2 | Dec 11, 2022 |
| ATP8B1-AS1 | 1 | Dec 11, 2022 |
| ATRX | 2 | Dec 14, 2022 |
| B3GLCT | 1 | Dec 11, 2022 |
| BAP1 | 4 | Dec 14, 2022 |
| BBS2 | 1 | Dec 14, 2022 |
| BCL11A | 1 | Dec 11, 2022 |
| BCORL1 | 1 | Dec 11, 2022 |
| BEST1 | 5 | Dec 14, 2022 |
| BLK | 1 | Dec 14, 2022 |
| BMPR1A | 1 | Dec 14, 2022 |
| BMPR2 | 1 | Dec 11, 2022 |
| BRCA1 | 32 | Dec 14, 2022 |
| BRCA2 | 66 | Dec 14, 2022 |
| BRD4 | 1 | Dec 14, 2022 |
| BRIP1 | 12 | Dec 14, 2022 |
| BRPF1 | 2 | Dec 11, 2022 |
| C11orf65 | 4 | Dec 14, 2022 |
| C12orf60 | 1 | Dec 14, 2022 |
| C3 | 1 | Dec 14, 2022 |
| CACNA1A | 4 | Dec 14, 2022 |
| CACNA1C | 3 | Dec 14, 2022 |
| CACNA1C-AS1 | 1 | Dec 11, 2022 |
| CACNA1F | 4 | Dec 14, 2022 |
| CACNA1G | 2 | Dec 14, 2022 |
| CARD14 | 2 | Dec 14, 2022 |
| CASR | 9 | Dec 14, 2022 |
| CATIP-AS2 | 2 | Dec 11, 2022 |
| CBS | 1 | Dec 11, 2022 |
| CCDC103 | 1 | Dec 14, 2022 |
| CCDC39 | 1 | Dec 11, 2022 |
| CCDC40 | 4 | Dec 14, 2022 |
| CCNO | 1 | Dec 11, 2022 |
| CD19 | 1 | Dec 11, 2022 |
| CD36 | 1 | Dec 11, 2022 |
| CD46 | 1 | Dec 11, 2022 |
| CDAN1 | 3 | Dec 14, 2022 |
| CDC73 | 2 | Dec 14, 2022 |
| CDCA7L | 1 | Dec 14, 2022 |
| CDH1 | 2 | Dec 11, 2022 |
| CDK13 | 1 | Dec 11, 2022 |
| CDKL5 | 1 | Dec 11, 2022 |
| CDKN2A | 1 | Dec 11, 2022 |
| CDON | 1 | Dec 14, 2022 |
| CEBPA | 2 | Dec 11, 2022 |
| CEP290 | 1 | Dec 14, 2022 |
| CFH | 1 | Dec 11, 2022 |
| CFTR | 5 | Dec 14, 2022 |
| CFTR-AS1 | 1 | Dec 14, 2022 |
| CHD3 | 1 | Dec 14, 2022 |
| CHD7 | 2 | Dec 11, 2022 |
| CHD8 | 1 | Dec 11, 2022 |
| CHEK2 | 18 | Dec 14, 2022 |
| CHST6 | 4 | Dec 14, 2022 |
| CIZ1 | 1 | Dec 11, 2022 |
| CKAP2L | 1 | Dec 11, 2022 |
| CLCN1 | 1 | Dec 11, 2022 |
| CLCN4 | 1 | Dec 11, 2022 |
| CLRN1 | 1 | Dec 14, 2022 |
| COL11A1 | 2 | Dec 11, 2022 |
| COL12A1 | 1 | Dec 14, 2022 |
| COL1A1 | 4 | Dec 14, 2022 |
| COL1A2 | 1 | Dec 11, 2022 |
| COL2A1 | 5 | Dec 14, 2022 |
| COL3A1 | 4 | Dec 14, 2022 |
| COL4A1 | 2 | Dec 14, 2022 |
| COL4A2 | 1 | Dec 11, 2022 |
| COL4A3 | 1 | Dec 14, 2022 |
| COL4A5 | 2 | Dec 14, 2022 |
| COL5A1 | 2 | Dec 14, 2022 |
| COL6A1 | 1 | Dec 14, 2022 |
| COQ8A | 1 | Dec 11, 2022 |
| CPOX | 1 | Dec 14, 2022 |
| CPT1A | 2 | Dec 14, 2022 |
| CREBBP | 3 | Dec 14, 2022 |
| CRELD1 | 1 | Dec 11, 2022 |
| CRYAA | 1 | Dec 14, 2022 |
| CRYAB | 1 | Dec 14, 2022 |
| CRYBA1 | 2 | Dec 14, 2022 |
| CRYBA4 | 1 | Dec 14, 2022 |
| CRYBB1 | 1 | Dec 14, 2022 |
| CRYBB2 | 1 | Dec 14, 2022 |
| CSF1R | 1 | Dec 11, 2022 |
| CSRP3 | 2 | Dec 14, 2022 |
| CUX2 | 1 | Dec 14, 2022 |
| CYLD | 3 | Dec 14, 2022 |
| CYLD-AS2 | 3 | Dec 14, 2022 |
| CYP1B1 | 3 | Dec 11, 2022 |
| CYP4V2 | 1 | Dec 11, 2022 |
| DCTN1 | 1 | Dec 11, 2022 |
| DDC | 1 | Dec 11, 2022 |
| DDX3X | 1 | Dec 14, 2022 |
| DDX41 | 1 | Dec 11, 2022 |
| DEAF1 | 1 | Dec 11, 2022 |
| DEPDC5 | 1 | Dec 11, 2022 |
| DGAT1 | 1 | Dec 14, 2022 |
| DHCR7 | 2 | Dec 14, 2022 |
| DICER1 | 2 | Dec 11, 2022 |
| DLG4 | 1 | Dec 11, 2022 |
| DLL1 | 1 | Dec 14, 2022 |
| DMD | 1 | Dec 14, 2022 |
| DMXL2 | 1 | Dec 11, 2022 |
| DNA2 | 1 | Dec 11, 2022 |
| DNAAF4 | 1 | Dec 11, 2022 |
| DNAAF4-CCPG1 | 1 | Dec 11, 2022 |
| DNAAF5 | 2 | Dec 14, 2022 |
| DNAH1 | 1 | Dec 11, 2022 |
| DNAH11 | 12 | Dec 14, 2022 |
| DNAH5 | 11 | Dec 14, 2022 |
| DNAH9 | 2 | Dec 11, 2022 |
| DNAI2 | 1 | Dec 14, 2022 |
| DNAJB13 | 1 | Dec 11, 2022 |
| DNAJC21 | 1 | Dec 11, 2022 |
| DNAJC3 | 1 | Dec 14, 2022 |
| DNASE1 | 1 | Dec 14, 2022 |
| DNM1 | 2 | Dec 11, 2022 |
| DOCK8 | 1 | Dec 14, 2022 |
| DPF2 | 1 | Dec 14, 2022 |
| DSG2 | 1 | Dec 14, 2022 |
| DSP | 2 | Dec 14, 2022 |
| DTNBP1 | 1 | Dec 11, 2022 |
| DUOX2 | 2 | Dec 14, 2022 |
| DVL2 | 1 | Dec 14, 2022 |
| DYNC1H1 | 2 | Dec 14, 2022 |
| DYNC2LI1 | 1 | Dec 14, 2022 |
| DYSF | 3 | Dec 14, 2022 |
| EARS2 | 1 | Dec 14, 2022 |
| ECEL1 | 1 | Dec 14, 2022 |
| EDA | 1 | Dec 14, 2022 |
| EDN3 | 1 | Dec 14, 2022 |
| EFTUD2 | 2 | Dec 11, 2022 |
| EIF2B4 | 1 | Dec 14, 2022 |
| EIF2B5 | 1 | Dec 11, 2022 |
| ELANE | 1 | Dec 14, 2022 |
| ENG | 2 | Dec 14, 2022 |
| EPHB4 | 1 | Dec 11, 2022 |
| ERCC2 | 2 | Dec 11, 2022 |
| EXOSC3 | 2 | Dec 11, 2022 |
| EXPH5 | 1 | Dec 11, 2022 |
| EXT1 | 1 | Dec 11, 2022 |
| EXT2 | 1 | Dec 14, 2022 |
| EYA1 | 1 | Dec 11, 2022 |
| EYS | 3 | Dec 14, 2022 |
| F5 | 1 | Dec 14, 2022 |
| F7 | 2 | Dec 14, 2022 |
| F8 | 44 | Dec 14, 2022 |
| F9 | 6 | Dec 14, 2022 |
| FAM161A | 1 | Dec 11, 2022 |
| FANCA | 1 | Dec 14, 2022 |
| FANCG | 1 | Dec 14, 2022 |
| FAT4 | 1 | Dec 11, 2022 |
| FBN1 | 6 | Dec 14, 2022 |
| FECH | 1 | Dec 11, 2022 |
| FERMT3 | 1 | Dec 14, 2022 |
| FGA | 1 | Dec 14, 2022 |
| FGB | 1 | Dec 11, 2022 |
| FGFR3 | 2 | Dec 14, 2022 |
| FGG | 1 | Dec 11, 2022 |
| FH | 2 | Dec 14, 2022 |
| FIG4 | 1 | Dec 11, 2022 |
| FKRP | 1 | Dec 14, 2022 |
| FLCN | 2 | Dec 14, 2022 |
| FLNA | 2 | Dec 14, 2022 |
| FLNB | 1 | Dec 11, 2022 |
| FLNC | 3 | Dec 14, 2022 |
| FLNC-AS1 | 1 | Dec 14, 2022 |
| FMR1 | 1 | Dec 11, 2022 |
| FOXC1 | 17 | Dec 11, 2022 |
| FOXJ1 | 1 | Dec 14, 2022 |
| FOXP1 | 2 | Dec 11, 2022 |
| FTH1 | 1 | Dec 14, 2022 |
| FTL | 1 | Dec 11, 2022 |
| FZD4 | 1 | Dec 14, 2022 |
| G6PC1 | 1 | Dec 11, 2022 |
| G6PD | 1 | Dec 14, 2022 |
| GABRG2 | 1 | Dec 11, 2022 |
| GALNS | 2 | Dec 11, 2022 |
| GALT | 3 | Dec 11, 2022 |
| GANAB | 1 | Dec 14, 2022 |
| GAREM2 | 1 | Dec 11, 2022 |
| GAS2L2 | 1 | Dec 14, 2022 |
| GAS8 | 3 | Dec 14, 2022 |
| GATA1 | 1 | Dec 11, 2022 |
| GATA2 | 1 | Dec 14, 2022 |
| GBA1 | 2 | Dec 14, 2022 |
| GBE1 | 1 | Dec 11, 2022 |
| GCDH | 1 | Dec 11, 2022 |
| GCK | 7 | Dec 14, 2022 |
| GCM2 | 1 | Dec 11, 2022 |
| GFAP | 1 | Dec 11, 2022 |
| GFI1B | 1 | Dec 14, 2022 |
| GH-LCR | 1 | Dec 14, 2022 |
| GJA3 | 1 | Dec 11, 2022 |
| GJB1 | 1 | Dec 11, 2022 |
| GJB2 | 1 | Dec 14, 2022 |
| GLRA1 | 1 | Dec 14, 2022 |
| GLUD1 | 2 | Dec 14, 2022 |
| GNAO1 | 1 | Dec 14, 2022 |
| GNAS | 1 | Dec 11, 2022 |
| GNE | 1 | Dec 11, 2022 |
| GP1BA | 2 | Dec 14, 2022 |
| GP9 | 2 | Dec 14, 2022 |
| GPC3 | 1 | Dec 11, 2022 |
| GRIA2 | 1 | Dec 11, 2022 |
| GRIA3 | 2 | Dec 11, 2022 |
| GRIN1 | 2 | Dec 14, 2022 |
| GRIN2B | 3 | Dec 14, 2022 |
| GRM1 | 1 | Dec 11, 2022 |
| GSN | 2 | Dec 14, 2022 |
| GTF3C2-AS2 | 1 | Dec 14, 2022 |
| GTPBP3 | 1 | Dec 11, 2022 |
| GUCY2C | 1 | Dec 14, 2022 |
| GUCY2D | 2 | Dec 14, 2022 |
| HADHA | 1 | Dec 11, 2022 |
| HADHB | 1 | Dec 11, 2022 |
| HAX1 | 1 | Dec 14, 2022 |
| HBA1 | 2 | Dec 14, 2022 |
| HBA2 | 4 | Dec 11, 2022 |
| HBB | 12 | Dec 14, 2022 |
| HERC2 | 2 | Dec 11, 2022 |
| HFE | 1 | Dec 11, 2022 |
| HFE-AS1 | 1 | Dec 11, 2022 |
| HGSNAT | 1 | Dec 11, 2022 |
| HIVEP2 | 1 | Dec 11, 2022 |
| HMGCL | 1 | Dec 11, 2022 |
| HNF1A | 5 | Dec 14, 2022 |
| HNF1B | 2 | Dec 14, 2022 |
| HNF4A | 4 | Dec 14, 2022 |
| HNRNPH2 | 1 | Dec 11, 2022 |
| HNRNPU | 1 | Dec 11, 2022 |
| HOXB13 | 1 | Dec 11, 2022 |
| HRAS | 1 | Dec 11, 2022 |
| HSALR1 | 1 | Dec 11, 2022 |
| HSF4 | 1 | Dec 14, 2022 |
| HUWE1 | 2 | Dec 14, 2022 |
| HYDIN | 5 | Dec 14, 2022 |
| IDH3A | 1 | Dec 14, 2022 |
| IFIH1 | 1 | Dec 11, 2022 |
| IGSF1 | 2 | Dec 14, 2022 |
| IMPG1 | 1 | Dec 14, 2022 |
| INSR | 1 | Dec 11, 2022 |
| IRF6 | 2 | Dec 14, 2022 |
| ITGA2B | 3 | Dec 14, 2022 |
| ITGB3 | 1 | Dec 14, 2022 |
| JAG2 | 1 | Dec 14, 2022 |
| JAGN1 | 1 | Dec 11, 2022 |
| JMJD8 | 1 | Dec 11, 2022 |
| KAT6A | 1 | Dec 11, 2022 |
| KAT6B | 1 | Dec 11, 2022 |
| KCNA1 | 1 | Dec 11, 2022 |
| KCNA2 | 1 | Dec 14, 2022 |
| KCND3 | 1 | Dec 14, 2022 |
| KCNE1 | 1 | Dec 14, 2022 |
| KCNH2 | 1 | Dec 14, 2022 |
| KCNQ1 | 2 | Dec 14, 2022 |
| KCNT2 | 1 | Dec 14, 2022 |
| KDM5B | 1 | Dec 11, 2022 |
| KDM5C | 2 | Dec 11, 2022 |
| KDM6A | 1 | Dec 11, 2022 |
| KDM6B | 1 | Dec 11, 2022 |
| KIF11 | 1 | Dec 14, 2022 |
| KIF1A | 2 | Dec 14, 2022 |
| KIF22 | 1 | Dec 14, 2022 |
| KIT | 1 | Dec 14, 2022 |
| KLHL7 | 1 | Dec 14, 2022 |
| KMT2A | 1 | Dec 11, 2022 |
| KMT2D | 2 | Dec 14, 2022 |
| KMT2E | 1 | Dec 14, 2022 |
| KRIT1 | 1 | Dec 14, 2022 |
| KRT12 | 2 | Dec 11, 2022 |
| LAMA2 | 3 | Dec 14, 2022 |
| LDB3 | 1 | Dec 14, 2022 |
| LDLR | 3 | Dec 14, 2022 |
| LEPR | 1 | Dec 14, 2022 |
| LMNB1 | 1 | Dec 14, 2022 |
| LMX1B | 2 | Dec 11, 2022 |
| LOC100507346 | 1 | Dec 11, 2022 |
| LOC106099062 | 11 | Dec 14, 2022 |
| LOC106627981 | 2 | Dec 14, 2022 |
| LOC106804612 | 4 | Dec 11, 2022 |
| LOC106804613 | 1 | Dec 14, 2022 |
| LOC107133510 | 12 | Dec 14, 2022 |
| LOC107303340 | 3 | Dec 11, 2022 |
| LOC107988032 | 1 | Dec 14, 2022 |
| LOC108281177 | 1 | Dec 11, 2022 |
| LOC110006319 | 1 | Dec 11, 2022 |
| LOC111674472 | 1 | Dec 14, 2022 |
| LOC113839516 | 1 | Dec 11, 2022 |
| LOC113939944 | 1 | Dec 11, 2022 |
| LOC121740638 | 1 | Dec 11, 2022 |
| LOC126806373 | 1 | Dec 14, 2022 |
| LOC126806430 | 1 | Dec 11, 2022 |
| LOC126859807 | 2 | Dec 14, 2022 |
| LOC126859837 | 1 | Dec 11, 2022 |
| LOC126860124 | 1 | Dec 11, 2022 |
| LOC126860403 | 1 | Dec 11, 2022 |
| LOC126861615 | 1 | Dec 11, 2022 |
| LOC126861897 | 1 | Dec 14, 2022 |
| LOC126861898 | 1 | Dec 14, 2022 |
| LOC126862264 | 1 | Dec 14, 2022 |
| LOC126862549 | 1 | Dec 11, 2022 |
| LOC126862571 | 4 | Dec 11, 2022 |
| LOC126862611 | 1 | Dec 14, 2022 |
| LOC126863256 | 1 | Dec 11, 2022 |
| LOC126863257 | 1 | Dec 11, 2022 |
| LPIN1 | 1 | Dec 14, 2022 |
| LPIN2 | 1 | Dec 14, 2022 |
| LPL | 2 | Dec 14, 2022 |
| LRBA | 3 | Dec 14, 2022 |
| LRP5 | 1 | Dec 14, 2022 |
| LRRC56 | 1 | Dec 11, 2022 |
| LRRK2 | 1 | Dec 11, 2022 |
| LZTR1 | 5 | Dec 14, 2022 |
| MACF1 | 1 | Dec 11, 2022 |
| MAFA | 2 | Dec 14, 2022 |
| MAPT | 1 | Dec 11, 2022 |
| MASTL | 2 | Dec 14, 2022 |
| MCCC1 | 2 | Dec 14, 2022 |
| MCCC2 | 2 | Dec 14, 2022 |
| MCIDAS | 1 | Dec 11, 2022 |
| MECP2 | 1 | Dec 14, 2022 |
| MED12L | 1 | Dec 11, 2022 |
| MED13 | 1 | Dec 11, 2022 |
| MED13L | 1 | Dec 11, 2022 |
| MEFV | 2 | Dec 14, 2022 |
| MEN1 | 1 | Dec 14, 2022 |
| MERTK | 1 | Dec 11, 2022 |
| MET | 1 | Dec 14, 2022 |
| MFF-DT | 1 | Dec 14, 2022 |
| MFN2 | 1 | Dec 11, 2022 |
| MHRT | 1 | Dec 14, 2022 |
| MLH1 | 7 | Dec 14, 2022 |
| MMACHC | 2 | Dec 14, 2022 |
| MMADHC | 1 | Dec 14, 2022 |
| MPL | 1 | Dec 14, 2022 |
| MSH2 | 10 | Dec 14, 2022 |
| MSH6 | 20 | Dec 14, 2022 |
| MTOR | 2 | Dec 14, 2022 |
| MUTYH | 2 | Dec 14, 2022 |
| MVK | 1 | Dec 14, 2022 |
| MYBPC3 | 7 | Dec 14, 2022 |
| MYH2 | 1 | Dec 14, 2022 |
| MYH3 | 1 | Dec 11, 2022 |
| MYH7 | 8 | Dec 14, 2022 |
| MYH9 | 4 | Dec 14, 2022 |
| MYHAS | 1 | Dec 14, 2022 |
| MYLK | 1 | Dec 14, 2022 |
| MYOC | 6 | Dec 14, 2022 |
| MYRF | 1 | Dec 11, 2022 |
| MYT1L | 1 | Dec 14, 2022 |
| NAA15 | 1 | Dec 11, 2022 |
| NAGA | 1 | Dec 11, 2022 |
| NALCN | 1 | Dec 14, 2022 |
| NBAS | 1 | Dec 14, 2022 |
| NCF2 | 1 | Dec 11, 2022 |
| NEB | 5 | Dec 14, 2022 |
| NEFL | 1 | Dec 14, 2022 |
| NEXN | 1 | Dec 14, 2022 |
| NF1 | 10 | Dec 14, 2022 |
| NF2 | 13 | Dec 14, 2022 |
| NFIX | 1 | Dec 11, 2022 |
| NFKB1 | 2 | Dec 14, 2022 |
| NIPBL | 2 | Dec 11, 2022 |
| NLRP12 | 2 | Dec 14, 2022 |
| NLRP3 | 1 | Dec 14, 2022 |
| NOTCH1 | 2 | Dec 14, 2022 |
| NOTCH3 | 5 | Dec 14, 2022 |
| NPHP3 | 1 | Dec 11, 2022 |
| NPHP3-ACAD11 | 1 | Dec 11, 2022 |
| NPRL2 | 1 | Dec 11, 2022 |
| NR2E3 | 1 | Dec 11, 2022 |
| NR5A1 | 1 | Dec 11, 2022 |
| NRXN1 | 2 | Dec 14, 2022 |
| NSD1 | 1 | Dec 11, 2022 |
| NSDHL | 1 | Dec 11, 2022 |
| NTHL1 | 2 | Dec 14, 2022 |
| ODAD1 | 1 | Dec 11, 2022 |
| ODAD2 | 2 | Dec 14, 2022 |
| ODAD3 | 1 | Dec 14, 2022 |
| OPA1 | 1 | Dec 14, 2022 |
| OPHN1 | 1 | Dec 11, 2022 |
| OPN1LW | 1 | Dec 14, 2022 |
| PADI3 | 2 | Dec 11, 2022 |
| PAH | 6 | Dec 14, 2022 |
| PALB2 | 25 | Dec 14, 2022 |
| PARK7 | 1 | Dec 11, 2022 |
| PARN | 1 | Dec 14, 2022 |
| PAX6 | 9 | Feb 22, 2018 |
| PBX1 | 1 | Dec 11, 2022 |
| PCARE | 1 | Dec 14, 2022 |
| PDE6B | 2 | Dec 14, 2022 |
| PDE6B-AS1 | 1 | Dec 14, 2022 |
| PGK1 | 1 | Dec 11, 2022 |
| PHEX | 1 | Dec 14, 2022 |
| PHYH | 1 | Dec 11, 2022 |
| PIEZO1 | 2 | Dec 11, 2022 |
| PIEZO2 | 1 | Dec 14, 2022 |
| PIGB | 1 | Dec 11, 2022 |
| PIGBOS1 | 1 | Dec 11, 2022 |
| PIK3CD | 2 | Dec 11, 2022 |
| PIKFYVE | 2 | Dec 14, 2022 |
| PINK1 | 1 | Dec 11, 2022 |
| PINK1-AS | 1 | Dec 11, 2022 |
| PITPNM3 | 1 | Dec 14, 2022 |
| PITX2 | 9 | Dec 22, 2016 |
| PKD1 | 4 | Dec 14, 2022 |
| PKD1-AS1 | 2 | Dec 14, 2022 |
| PKHD1 | 3 | Dec 14, 2022 |
| PKP2 | 2 | Dec 14, 2022 |
| PLCG2 | 1 | Dec 14, 2022 |
| PLEKHG2 | 1 | Dec 11, 2022 |
| PMM2 | 1 | Dec 11, 2022 |
| PMP22 | 1 | Dec 11, 2022 |
| PMS2 | 7 | Dec 14, 2022 |
| PNKD | 2 | Dec 11, 2022 |
| POLA1 | 1 | Dec 14, 2022 |
| POLD1 | 1 | Dec 14, 2022 |
| POLE | 3 | Dec 14, 2022 |
| POLG | 5 | Dec 14, 2022 |
| POLGARF | 5 | Dec 14, 2022 |
| POLR3B | 1 | Dec 14, 2022 |
| PPOX | 1 | Dec 11, 2022 |
| PRDM16 | 1 | Dec 14, 2022 |
| PRKAG2 | 1 | Dec 14, 2022 |
| PRKD1 | 1 | Dec 11, 2022 |
| PRKN | 4 | Dec 14, 2022 |
| PROC | 2 | Dec 14, 2022 |
| PROM1 | 2 | Dec 14, 2022 |
| PROS1 | 1 | Dec 14, 2022 |
| PRPF31 | 1 | Dec 11, 2022 |
| PRPF31-AS1 | 1 | Dec 11, 2022 |
| PRPF8 | 1 | Dec 11, 2022 |
| PRPH2 | 1 | Dec 14, 2022 |
| PRSS23 | 1 | Dec 14, 2022 |
| PSEN1 | 1 | Dec 11, 2022 |
| PSTPIP1 | 1 | Dec 14, 2022 |
| PTCH1 | 1 | Dec 11, 2022 |
| PTCHD1-AS | 1 | Dec 14, 2022 |
| PTEN | 2 | Dec 11, 2022 |
| PTPN11 | 8 | Dec 14, 2022 |
| PTS | 2 | Dec 11, 2022 |
| PUM1 | 1 | Dec 11, 2022 |
| PYGM | 1 | Dec 14, 2022 |
| RAB23 | 2 | Dec 14, 2022 |
| RAD21 | 1 | Dec 14, 2022 |
| RAD51C | 6 | Dec 14, 2022 |
| RAD51D | 4 | Dec 14, 2022 |
| RAD51L3-RFFL | 4 | Dec 14, 2022 |
| RAF1 | 1 | Dec 14, 2022 |
| RAI1 | 1 | Dec 11, 2022 |
| RAPSN | 3 | Dec 14, 2022 |
| RARS1 | 1 | Dec 11, 2022 |
| RB1 | 14 | Dec 14, 2022 |
| RERE | 1 | Dec 11, 2022 |
| RET | 15 | Dec 14, 2022 |
| RHO | 1 | Dec 11, 2022 |
| RIF1 | 1 | Dec 11, 2022 |
| RIT1 | 1 | Dec 11, 2022 |
| RNASEH2B | 1 | Dec 14, 2022 |
| RP1 | 4 | Dec 14, 2022 |
| RP2 | 1 | Dec 11, 2022 |
| RPE65 | 4 | Dec 14, 2022 |
| RPGR | 1 | Dec 11, 2022 |
| RPL36A-HNRNPH2 | 1 | Dec 11, 2022 |
| RPL5 | 1 | Dec 14, 2022 |
| RPS24 | 1 | Dec 11, 2022 |
| RS1 | 1 | Dec 11, 2022 |
| RSPH1 | 1 | Dec 14, 2022 |
| RSPH4A | 1 | Dec 14, 2022 |
| RUNX2 | 2 | Dec 11, 2022 |
| RYR1 | 6 | Dec 14, 2022 |
| SALL1 | 3 | Dec 11, 2022 |
| SAMD9 | 1 | Dec 14, 2022 |
| SBDS | 1 | Dec 11, 2022 |
| SCN2A | 1 | Dec 11, 2022 |
| SCN3A | 2 | Dec 14, 2022 |
| SCN4A | 1 | Dec 14, 2022 |
| SCN5A | 1 | Dec 14, 2022 |
| SCNN1B | 1 | Dec 11, 2022 |
| SDHA | 1 | Dec 11, 2022 |
| SDHB | 3 | Dec 14, 2022 |
| SDHC | 1 | Dec 14, 2022 |
| SDHD | 1 | Dec 14, 2022 |
| SERPINA1 | 2 | Dec 11, 2022 |
| SERPINB7 | 1 | Dec 14, 2022 |
| SERPINC1 | 1 | Dec 11, 2022 |
| SETD1B | 1 | Dec 11, 2022 |
| SETD5 | 1 | Dec 11, 2022 |
| SETX | 1 | Dec 14, 2022 |
| SGSH | 4 | Dec 14, 2022 |
| SH2B3 | 1 | Dec 14, 2022 |
| SH3TC2 | 2 | Dec 11, 2022 |
| SHANK2 | 1 | Dec 11, 2022 |
| SHOX | 1 | Dec 11, 2022 |
| SHROOM4 | 1 | Dec 14, 2022 |
| SLC22A5 | 1 | Dec 11, 2022 |
| SLC25A20 | 1 | Dec 11, 2022 |
| SLC26A2 | 1 | Dec 14, 2022 |
| SLC26A3 | 2 | Dec 14, 2022 |
| SLC26A4 | 2 | Dec 11, 2022 |
| SLC4A11 | 1 | Dec 11, 2022 |
| SLC52A1 | 1 | Dec 11, 2022 |
| SLC52A3 | 1 | Dec 14, 2022 |
| SLC5A6 | 1 | Dec 11, 2022 |
| SLC6A8 | 1 | Dec 11, 2022 |
| SLC7A9 | 1 | Dec 11, 2022 |
| SLFN14 | 1 | Dec 14, 2022 |
| SLX4 | 1 | Dec 11, 2022 |
| SMAD6 | 1 | Dec 14, 2022 |
| SMARCA2 | 1 | Dec 11, 2022 |
| SMARCA4 | 3 | Dec 14, 2022 |
| SMARCB1 | 1 | Dec 14, 2022 |
| SMARCE1 | 1 | Dec 14, 2022 |
| SMC1A | 1 | Dec 11, 2022 |
| SNHG14 | 1 | Dec 11, 2022 |
| SOS1 | 2 | Dec 11, 2022 |
| SOX11 | 1 | Dec 14, 2022 |
| SOX2 | 1 | Dec 11, 2022 |
| SOX2-OT | 1 | Dec 11, 2022 |
| SOX9 | 1 | Dec 11, 2022 |
| SPAST | 2 | Dec 11, 2022 |
| SPATA7 | 1 | Dec 14, 2022 |
| SPG7 | 2 | Dec 14, 2022 |
| SRP54 | 1 | Dec 11, 2022 |
| SRP72 | 1 | Dec 14, 2022 |
| STAG2 | 1 | Dec 14, 2022 |
| STS | 3 | Dec 14, 2022 |
| STUB1 | 1 | Dec 11, 2022 |
| STXBP1 | 1 | Dec 11, 2022 |
| STXBP2 | 2 | Dec 14, 2022 |
| SURF1 | 1 | Dec 11, 2022 |
| SVIL | 2 | Dec 11, 2022 |
| SYNE1 | 2 | Dec 11, 2022 |
| SYNE2 | 1 | Dec 11, 2022 |
| SYT2 | 1 | Dec 14, 2022 |
| TARS2 | 1 | Dec 11, 2022 |
| TBK1 | 1 | Dec 11, 2022 |
| TBL1X | 1 | Dec 14, 2022 |
| TBX22 | 1 | Dec 11, 2022 |
| TBX5 | 1 | Dec 11, 2022 |
| TCF4 | 1 | Dec 11, 2022 |
| TCOF1 | 1 | Dec 11, 2022 |
| TFAP2A | 2 | Dec 11, 2022 |
| TFAP2A-AS2 | 1 | Dec 11, 2022 |
| TG | 1 | Dec 14, 2022 |
| TGFB3 | 3 | Dec 14, 2022 |
| TGFBI | 7 | Dec 14, 2022 |
| TGM1 | 2 | Dec 11, 2022 |
| TJP2 | 1 | Dec 11, 2022 |
| TLK2 | 1 | Dec 14, 2022 |
| TMEM240 | 1 | Dec 11, 2022 |
| TMPRSS3 | 2 | Dec 11, 2022 |
| TNFAIP3 | 3 | Dec 14, 2022 |
| TNFRSF11A | 1 | Dec 11, 2022 |
| TNFRSF13C | 1 | Dec 11, 2022 |
| TNFRSF1A | 2 | Dec 14, 2022 |
| TNNC1 | 1 | Dec 14, 2022 |
| TNNT2 | 1 | Dec 14, 2022 |
| TP53 | 7 | Dec 14, 2022 |
| TPI1 | 2 | Dec 11, 2022 |
| TPM1 | 1 | Dec 14, 2022 |
| TPO | 1 | Dec 11, 2022 |
| TRAF7 | 2 | Dec 11, 2022 |
| TRAP1 | 1 | Dec 14, 2022 |
| TRIO | 1 | Dec 14, 2022 |
| TRPM1 | 2 | Dec 14, 2022 |
| TRRAP | 1 | Dec 14, 2022 |
| TSC1 | 1 | Dec 11, 2022 |
| TSC2 | 5 | Dec 14, 2022 |
| TSHR | 2 | Dec 14, 2022 |
| TSPAN12 | 1 | Dec 11, 2022 |
| TTN | 3 | Dec 14, 2022 |
| TTN-AS1 | 2 | Dec 14, 2022 |
| TUBB1 | 2 | Dec 11, 2022 |
| TUBB4A | 1 | Dec 11, 2022 |
| TWIST1 | 1 | Dec 14, 2022 |
| TYR | 3 | Dec 14, 2022 |
| UBE3A | 1 | Dec 11, 2022 |
| UBIAD1 | 1 | Dec 14, 2022 |
| UGT1A | 1 | Dec 14, 2022 |
| UGT1A1 | 1 | Dec 14, 2022 |
| UGT1A10 | 1 | Dec 14, 2022 |
| UGT1A3 | 1 | Dec 14, 2022 |
| UGT1A4 | 1 | Dec 14, 2022 |
| UGT1A5 | 1 | Dec 14, 2022 |
| UGT1A6 | 1 | Dec 14, 2022 |
| UGT1A7 | 1 | Dec 14, 2022 |
| UGT1A8 | 1 | Dec 14, 2022 |
| UGT1A9 | 1 | Dec 14, 2022 |
| UNC13D | 2 | Dec 11, 2022 |
| USH1C | 2 | Dec 14, 2022 |
| USH2A | 16 | Dec 14, 2022 |
| USH2A-AS2 | 1 | Dec 11, 2022 |
| USP9X | 1 | Dec 11, 2022 |
| VHL | 4 | Dec 11, 2022 |
| VPS13A | 1 | Dec 11, 2022 |
| VPS13A-AS1 | 1 | Dec 11, 2022 |
| VPS13B | 1 | Dec 11, 2022 |
| VPS45 | 1 | Dec 11, 2022 |
| VWF | 20 | Dec 14, 2022 |
| WDR26 | 1 | Dec 11, 2022 |
| WDR45 | 2 | Dec 11, 2022 |
| WDR72 | 1 | Dec 11, 2022 |
| WDR81 | 2 | Dec 11, 2022 |
| WFS1 | 2 | Dec 14, 2022 |
| WIPF1 | 1 | Dec 11, 2022 |
| WT1 | 1 | Dec 11, 2022 |
| ZEB1 | 2 | Dec 14, 2022 |
| ZFAT | 1 | Dec 11, 2022 |
| ZFYVE26 | 1 | Dec 11, 2022 |
| ZMYM2 | 2 | Dec 14, 2022 |
| ZNF292 | 1 | Dec 14, 2022 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| Abortive cerebellar ataxia | 1 test |
| Aniridia 1 | 1 test |
| Anterior segment dysgenesis 3 | 1 test |
| Anterior segment dysgenesis 4 | 1 test |
| Anterior segment dysgenesis 6 | 1 test |
| Autosomal dominant keratitis | 1 test |
| Autosomal dominant optic atrophy classic form | 1 test |
| Avellino corneal dystrophy | 1 test |
| Axenfeld-Rieger syndrome type 1 | 1 test |
| Axenfeld-Rieger syndrome type 3 | 1 test |
| Cataract 40 | 1 test |
| Coloboma of optic nerve | 1 test |
| Congenital ocular coloboma | 1 test |
| Corneal dystrophy, lattice type 3A | 1 test |
| Foveal hypoplasia 1 | 1 test |
| Glaucoma 1, open angle, A | 1 test |
| Glaucoma 3, primary infantile, B | 1 test |
| Glaucoma 3A | 1 test |
| Glaucoma, normal tension, susceptibility to | 1 test |
| Groenouw corneal dystrophy type I | 1 test |
| Hereditary hyperferritinemia with congenital cataracts | 1 test |
| Irido-corneo-trabecular dysgenesis | 1 test |
| Isolated microphthalmia 5 | 1 test |
| Isolated optic nerve hypoplasia | 1 test |
| L-ferritin deficiency | 1 test |
| Lattice corneal dystrophy Type I | 1 test |
| Map-dot-fingerprint corneal dystrophy | 1 test |
| Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | 1 test |
| Nance-Horan syndrome | 1 test |
| Nanophthalmos 2 | 1 test |
| Neuroferritinopathy | 1 test |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 1 test |
| Reis-Bucklers' corneal dystrophy | 1 test |
| Thiel-Behnke corneal dystrophy | 1 test |