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 |