Belgian Genetic Tests database
Disorders of Sex Development - Primary Ovarian Insufficiency - Hypogonadotropic Hypogonadism - UGent
| Full name: |
Disorders of Sex Development - Primary Ovarian Insufficiency - Hypogonadotropic Hypogonadism - UGent
|
| Abbreviation: |
DSD-POI-HH
|
| Type of panel: | |
| Version number: |
v5
|
| Laboratory: | |
| Created: |
13 Jun 2019 - 14:12
|
| Changed: |
16 Dec 2022 - 10:59
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| AARS2 | 99.98 | 1 | |
| AKR1C2 | 91.19 | 1 | |
| AKR1C4 | 100.00 | 1 | |
| AMH | 100.00 | 1 | |
| AMHR2 | 99.96 | 1 | |
| ANOS1 | 99.96 | 1 | |
| AR | 99.76 | 1 | |
| ARX | 95.36 | 1 | |
| ATRX | 99.44 | 1 | |
| AXL | 99.97 | 1 | |
| BMP15 | 99.98 | 1 | |
| BMP4 | 100.00 | 1 | |
| BNC1 | 100.00 | 1 | |
| CBX2 | 100.00 | 1 | |
| CHD7 | 99.99 | 1 | |
| CLPP | 99.99 | 1 | |
| CREBBP | 99.97 | 1 | |
| CYB5A | 99.98 | 1 | |
| CYP11A1 | 99.99 | 1 | |
| CYP11B1 | 100.00 | 1 | |
| CYP17A1 | 100.00 | 1 | |
| CYP19A1 | 99.99 | 1 | |
| CYP21A2 | 99.85 | 1 | |
| DHCR7 | 99.97 | 1 | |
| DHH | 100.00 | 1 | |
| DHX37 | 99.98 | 1 | |
| DMRT1 | 99.99 | 1 | |
| DMXL2 | 99.86 | 1 | |
| DUSP6 | 99.99 | 1 | |
| EIF4ENIF1 | 100.00 | 1 | |
| EP300 | 99.97 | 1 | |
| ESR1 | 100.00 | 1 | |
| ESR2 | 99.96 | 1 | |
| FANCM | 99.83 | 1 | |
| FEZF1 | 100.00 | 1 | |
| FGF17 | 99.81 | 1 | |
| FGF8 | 100.00 | 1 | |
| FGF9 | 100.00 | 1 | |
| FGFR1 | 100.00 | 1 | |
| FGFR2 | 99.99 | 1 | |
| FIGLA | 99.95 | 1 | |
| FLRT3 | 100.00 | 1 | |
| FOXL2 | 99.97 | 1 | |
| FSHB | 100.00 | 1 | |
| FSHR | 99.99 | 1 | |
| GATA4 | 99.99 | 1 | |
| GDF9 | 99.98 | 1 | |
| GNRH1 | 99.96 | 1 | |
| GNRHR | 99.94 | 1 | |
| GUCY2C | 99.97 | 1 | |
| HDAC8 | 99.74 | 1 | |
| HESX1 | 99.77 | 1 | |
| HFM1 | 89.74 | 1 | |
| HHAT | 99.93 | 1 | |
| HOXA13 | 99.94 | 1 | |
| HS6ST1 | 99.99 | 1 | |
| HSD17B3 | 99.77 | 1 | |
| HSD17B4 | 99.71 | 1 | |
| HSD3B2 | 100.00 | 1 | |
| IL17RD | 99.94 | 1 | |
| INSL3 | 98.02 | 1 | |
| KHDRBS1 | 99.35 | 1 | |
| KISS1 | 99.97 | 1 | |
| KISS1R | 100.00 | 1 | |
| LARS2 | 99.96 | 1 | |
| LEP | 100.00 | 1 | |
| LEPR | 92.52 | 1 | |
| LHB | 99.93 | 1 | |
| LHCGR | 99.94 | 1 | |
| LHX1 | 99.96 | 1 | |
| LHX3 | 99.99 | 1 | |
| LHX4 | 99.99 | 1 | |
| MAMLD1 | 99.84 | 1 | |
| MAP3K1 | 99.93 | 1 | |
| MCM8 | 98.78 | 1 | |
| MCM9 | 99.76 | 1 | |
| MEIOB | 99.98 | 1 | |
| MID1 | 99.90 | 1 | |
| MRPS22 | 99.87 | 1 | |
| MSH4 | 89.29 | 1 | |
| MSH5 | 100.00 | 1 | |
| NANOS3 | 100.00 | 1 | |
| NBN | 99.93 | 1 | |
| NOBOX | 99.95 | 1 | |
| NR0B1 | 99.98 | 1 | |
| NR2F2 | 100.00 | 1 | |
| NR5A1 | 99.92 | 1 | |
| NSMF | 100.00 | 1 | |
| NUP107 | 97.46 | 1 | |
| OTUD4 | 99.83 | 1 | |
| PATL2 | 99.99 | 1 | |
| PCSK1 | 99.99 | 1 | |
| PNPLA6 | 99.99 | 1 | |
| POF1B | 99.34 | 1 | |
| POLR2C | 99.99 | 1 | |
| POLR3A | 99.97 | 1 | |
| PORCN | 99.98 | 1 | |
| PROK2 | 98.65 | 1 | |
| PROKR2 | 100.00 | 1 | |
| PROP1 | 99.88 | 1 | |
| PSMC3IP | 99.82 | 1 | |
| RNF216 | 99.99 | 1 | |
| RSPO1 | 99.99 | 1 | |
| RXFP2 | 99.99 | 1 | |
| SEMA3A | 99.42 | 1 | |
| SEMA7A | 99.90 | 1 | |
| SOHLH1 | 100.00 | 1 | |
| SOHLH2 | 100.00 | 1 | |
| SOX10 | 100.00 | 1 | |
| SOX2 | 100.00 | 1 | |
| SOX3 | 100.00 | 1 | |
| SOX8 | 99.99 | 1 | |
| SOX9 | 100.00 | 1 | |
| SPIDR | 99.96 | 1 | |
| SPRY4 | 100.00 | 1 | |
| SRD5A2 | 100.00 | 1 | |
| SRY | 51.98 | 1 | |
| STAG3 | 98.99 | 1 | |
| SYCE1 | 99.99 | 1 | |
| TAC3 | 99.94 | 1 | |
| TACR3 | 99.99 | 1 | |
| TP63 | 99.97 | 1 | |
| TSPYL1 | 100.00 | 1 | |
| TWNK | 100.00 | 1 | |
| WDR11 | 99.91 | 1 | |
| WNT4 | 99.94 | 1 | |
| WT1 | 99.99 | 1 | |
| WWOX | 100.00 | 1 | |
| ZFPM2 | 100.00 | 1 | |
| ZNRF3 | 99.94 | 1 |