Template talk:Female Infertility Genes table 1

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


Version 1

Selected genes in Female Infertility
Gene abbreviation Name OMIM HGNC GCID Diagnosis
BMP15 Bone morphogenetic protein 15 300247 1068 GC0XP050910 Primary ovarian insufficiency
CLPP Caseinolytic mitochondrial matrix peptidase proteolytic subunit 601119 2084 GC19P006369 Primary ovarian insufficiency
EIF2B2 Eukaryotic translation initiation factor 2B subunit beta 606454 3258 GC14P075002 Primary ovarian insufficiency
FIGLA Folliculogenesis-specific BHLH transcription factor 608697 24669 GC02M070741 Primary ovarian insufficiency
FMR1 Fragile X mental retardation 1 309550 3775 GC0XP147912 Primary ovarian insufficiency
FOXL2 Forkhead box L2 605597 1092 GC03M138944 Primary ovarian insufficiency
FSHR Follicle stimulating hormone receptor 136435 3969 GC02M048866 Primary ovarian insufficiency
GALT Galactose-1-phosphate uridylyltransferase 606999 4135 GC09P034636 Primary ovarian insufficiency
GFD9 Growth differentiation factor 9 601918 4224 GC05M132861 Primary ovarian insufficiency
HARS2 Histidyl-TRNA synthetase 2, mitochondrial 600783 4817 GC05P141975 Primary ovarian insufficiency
HFM1 HFM1, ATP-dependent DNA helicase homolog 615684 20193 GC01M091260 Primary ovarian insufficiency
HSD17B4 Hydroxysteroid 17-beta dehydrogenase 4 601860 5213 GC05P119452 Primary ovarian insufficiency
LARS2 Leucyl-TRNA synthetase 2, mitochondrial 604544 17095 GC03P045405 Primary ovarian insufficiency
LHCGR Luteinizing hormone/choriogonadotropin receptor 152790 6585 GC02M048647 Primary ovarian insufficiency
LHX8 LIM homeobox 8 604425 28838 GC01P075128 Primary ovarian insufficiency
MCM8 Minichromosome maintenance 8 homologous recombination repair factor 608187 16147 GC20P005926 Primary ovarian insufficiency
MCM9 Minichromosome maintenance 9 homologous recombination repair factor 610098 21484 GC06M118813 Primary ovarian insufficiency
NOBOX NOBOX oogenesis homeobox 610934 22448 GC07M144397 Primary ovarian insufficiency
vNOG Noggin 602991 7866 GC17P056593 Primary ovarian insufficiency
vPMM2 Phosphomannomutase 2 601785 9115 GC16P008788 Primary ovarian insufficiency
POLG DNA polymerase gamma, catalytic subunit 174763 9179 GC15M089316 Primary ovarian insufficiency
REC8 REC8 meiotic recombination protein 608193 16879 GC14P024171 Primary ovarian insufficiency
SMC1B Structural maintenance of chromosomes 1B 608685 11112 GC22M045344 Primary ovarian insufficiency
SOHLH1 Spermatogenesis and oogenesis-specific basic helix–loop–helix 1 610224 27845 GC09M135693 Primary ovarian insufficiency
STAG3 Stromal antigen 3 608489 11356 GC07P100177 Primary ovarian insufficiency
SYCE1 Synaptonemal Complex Central Element Protein 1 611486 28852 GC10M133553 Primary ovarian insufficiency
TLE6 Transducin-like enhancer of split 6 612399 30788 GC19P002976 Embryonic lethalithy
TUBB8 Tubulin beta 8 Class VIII 616768 20773 GC10M000048 Oocyte maturation arrest
TWNK Twinkle MtDNA helicase 606075 1160 GC10P100991 Primary ovarian insufficiency

[1]

  1. 1.0 1.1 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.