Template:Female Infertility Genes table 1
From Embryology
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 |
- ↑ Harper JC, Aittomäki K, Borry P, Cornel MC, de Wert G, Dondorp W, Geraedts J, Gianaroli L, Ketterson K, Liebaers I, Lundin K, Mertes H, Morris M, Pennings G, Sermon K, Spits C, Soini S, van Montfoort APA, Veiga A, Vermeesch JR, Viville S & Macek M. (2018). Recent developments in genetics and medically assisted reproduction: from research to clinical applications. Eur. J. Hum. Genet. , 26, 12-33. PMID: 29199274 DOI.