Gene abbreviation
|
Name
|
Gene Location
|
Online Mendelian Inheritance in Man (OMIM)
|
HUGO Gene Nomenclature Committee (HGNC)
|
GeneCards (GCID)
|
Diagnosis
|
BMP15 |
Bone morphogenetic protein 15 |
Xp11.22 |
300247 |
1068 |
GC0XP050910 |
Primary ovarian insufficiency
|
CLPP |
Caseinolytic mitochondrial matrix peptidase proteolytic subunit |
19p13.3 |
601119 |
2084 |
GC19P006369 |
Primary ovarian insufficiency
|
EIF2B2 |
Eukaryotic translation initiation factor 2B subunit beta |
14q24.3 |
606454 |
3258 |
GC14P075002 |
Primary ovarian insufficiency
|
FIGLA |
Folliculogenesis-specific BHLH transcription factor |
2p13.3 |
608697 |
24669 |
GC02M070741 |
Primary ovarian insufficiency
|
FMR1 |
Fragile X mental retardation 1 |
Xq27.3 |
309550 |
3775 |
GC0XP147912 |
Primary ovarian insufficiency
|
FOXL2 |
Forkhead box L2 |
3q22.3 |
605597 |
1092 |
GC03M138944 |
Primary ovarian insufficiency
|
FSHR |
Follicle stimulating hormone receptor |
2p16.3 |
136435 |
3969 |
GC02M048866 |
Primary ovarian insufficiency
|
GALT |
Galactose-1-phosphate uridylyltransferase |
9p13.3 |
606999 |
4135 |
GC09P034636 |
Primary ovarian insufficiency
|
GFD9 |
Growth differentiation factor 9 |
5q31.1 |
601918 |
4224 |
GC05M132861 |
Primary ovarian insufficiency
|
HARS2 |
Histidyl-TRNA synthetase 2, mitochondrial |
5q31.3 |
600783 |
4817 |
GC05P141975 |
Primary ovarian insufficiency
|
HFM1 |
HFM1, ATP-dependent DNA helicase homolog |
1p22.2 |
615684 |
20193 |
GC01M091260 |
Primary ovarian insufficiency
|
HSD17B4 |
Hydroxysteroid 17-beta dehydrogenase 4 |
5q23.1 |
601860 |
5213 |
GC05P119452 |
Primary ovarian insufficiency
|
LARS2 |
Leucyl-TRNA synthetase 2, mitochondrial |
3p21.31 |
604544 |
17095 |
GC03P045405 |
Primary ovarian insufficiency
|
LHCGR |
Luteinizing hormone/choriogonadotropin receptor |
2p16.3 |
152790 |
6585 |
GC02M048647 |
Primary ovarian insufficiency
|
LHX8 |
LIM homeobox 8 |
1p31.1 |
604425 |
28838 |
GC01P075128 |
Primary ovarian insufficiency
|
MCM8 |
Minichromosome maintenance 8 homologous recombination repair factor |
20p12.3 |
608187 |
16147 |
GC20P005926 |
Primary ovarian insufficiency
|
MCM9 |
Minichromosome maintenance 9 homologous recombination repair factor |
6q22.31 |
610098 |
21484 |
GC06M118813 |
Primary ovarian insufficiency
|
NOBOX |
NOBOX oogenesis homeobox |
7q35 |
610934 |
22448 |
GC07M144397 |
Primary ovarian insufficiency
|
NOG |
Noggin |
17q22 |
602991 |
7866 |
GC17P056593 |
Primary ovarian insufficiency
|
PMM2 |
Phosphomannomutase 2 |
16p13.2 |
601785 |
9115 |
GC16P008788 |
Primary ovarian insufficiency
|
POLG |
DNA polymerase gamma, catalytic subunit |
15q26.1 |
174763 |
9179 |
GC15M089316 |
Primary ovarian insufficiency
|
REC8 |
REC8 meiotic recombination protein |
14q12 |
608193 |
16879 |
GC14P024171 |
Primary ovarian insufficiency
|
SMC1B |
Structural maintenance of chromosomes 1B |
22q13.31 |
608685 |
11112 |
GC22M045344 |
Primary ovarian insufficiency
|
SOHLH1 |
Spermatogenesis and oogenesis-specific basic helix–loop–helix 1 |
9q34.3 |
610224 |
27845 |
GC09M135693 |
Primary ovarian insufficiency
|
STAG3 |
Stromal antigen 3 |
7q22.1 |
{{Chr 608489 |
11356 |
GC07P100177 |
Primary ovarian insufficiency
|
SYCE1 |
Synaptonemal Complex Central Element Protein 1 |
10q26.3 |
611486 |
28852 |
GC10M133553 |
Primary ovarian insufficiency
|
TLE6 |
Transducin-like enhancer of split 6 |
19p13.3 |
612399 |
30788 |
GC19P002976 |
Embryonic lethalithy
|
TUBB8 |
Tubulin beta 8 Class VIII |
10p15.3 |
616768 |
20773 |
GC10M000048 |
Oocyte maturation arrest
|
TWNK |
Twinkle MtDNA helicase |
10q24.31 |
606075 |
1160 |
GC10P100991 |
Primary ovarian insufficiency
|
Table data source[1] (table 1) Links: fertilization | oocyte | ovary | | Female Infertility Genes | spermatozoa | testis | Male Infertility Genes | Genetic Abnormalities | ART
Primary ovarian insufficiency - depletion or dysfunction of ovarian follicles with cessation of menses before age 40 years.
Oocyte maturation arrest - arrest of human oocytes may occur at different stages of meiosis.
|