Template:Female Infertility Genes table 1: Difference between revisions
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! Diagnosis | ! Diagnosis | ||
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| BMP15 || Bone morphogenetic protein 15 || [https://www.omim.org/entry/300247 300247] || 1068 1068] || GC0XP050910 GC0XP050910] || Primary ovarian insufficiency | | BMP15 || Bone morphogenetic protein 15 || [https://www.omim.org/entry/300247 300247] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:1068 1068] || GC0XP050910 GC0XP050910] || Primary ovarian insufficiency | ||
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| CLPP || Caseinolytic mitochondrial matrix peptidase proteolytic subunit || [https://www.omim.org/entry/601119 601119] || 2084 2084] || GC19P006369 GC19P006369] || Primary ovarian insufficiency | | CLPP || Caseinolytic mitochondrial matrix peptidase proteolytic subunit || [https://www.omim.org/entry/601119 601119] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:2084 2084] || GC19P006369 GC19P006369] || Primary ovarian insufficiency | ||
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| EIF2B2 || Eukaryotic translation initiation factor 2B subunit beta || [https://www.omim.org/entry/606454 606454] || 3258 3258] || GC14P075002 GC14P075002] || Primary ovarian insufficiency | | EIF2B2 || Eukaryotic translation initiation factor 2B subunit beta || [https://www.omim.org/entry/606454 606454] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:3258 3258] || GC14P075002 GC14P075002] || Primary ovarian insufficiency | ||
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| FIGLA || Folliculogenesis-specific BHLH transcription factor || [https://www.omim.org/entry/608697 608697] || 24669 24669] || GC02M070741 GC02M070741] || Primary ovarian insufficiency | | FIGLA || Folliculogenesis-specific BHLH transcription factor || [https://www.omim.org/entry/608697 608697] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:24669 24669] || GC02M070741 GC02M070741] || Primary ovarian insufficiency | ||
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| FMR1 || Fragile X mental retardation 1 || [https://www.omim.org/entry/309550 309550] || 3775 3775] || GC0XP147912 GC0XP147912] || Primary ovarian insufficiency | | FMR1 || Fragile X mental retardation 1 || [https://www.omim.org/entry/309550 309550] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:3775 3775] || GC0XP147912 GC0XP147912] || Primary ovarian insufficiency | ||
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| FOXL2 || Forkhead box L2 || [https://www.omim.org/entry/605597 605597] || 1092 1092] || GC03M138944 GC03M138944] || Primary ovarian insufficiency | | FOXL2 || Forkhead box L2 || [https://www.omim.org/entry/605597 605597] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:1092 1092] || GC03M138944 GC03M138944] || Primary ovarian insufficiency | ||
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| FSHR || Follicle stimulating hormone receptor || [https://www.omim.org/entry/136435 136435] || 3969 3969] || GC02M048866 GC02M048866] || Primary ovarian insufficiency | | FSHR || Follicle stimulating hormone receptor || [https://www.omim.org/entry/136435 136435] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:3969 3969] || GC02M048866 GC02M048866] || Primary ovarian insufficiency | ||
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| GALT || Galactose-1-phosphate uridylyltransferase || [https://www.omim.org/entry/606999 606999] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:4135 4135] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC09P034636 GC09P034636] || Primary ovarian insufficiency | | GALT || Galactose-1-phosphate uridylyltransferase || [https://www.omim.org/entry/606999 606999] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:4135 4135] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC09P034636 GC09P034636] || Primary ovarian insufficiency |
Revision as of 14:12, 23 October 2018
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 GC0XP050910] | Primary ovarian insufficiency |
CLPP | Caseinolytic mitochondrial matrix peptidase proteolytic subunit | 601119 | 2084 | GC19P006369 GC19P006369] | Primary ovarian insufficiency |
EIF2B2 | Eukaryotic translation initiation factor 2B subunit beta | 606454 | 3258 | GC14P075002 GC14P075002] | Primary ovarian insufficiency |
FIGLA | Folliculogenesis-specific BHLH transcription factor | 608697 | 24669 | GC02M070741 GC02M070741] | Primary ovarian insufficiency |
FMR1 | Fragile X mental retardation 1 | 309550 | 3775 | GC0XP147912 GC0XP147912] | Primary ovarian insufficiency |
FOXL2 | Forkhead box L2 | 605597 | 1092 | GC03M138944 GC03M138944] | Primary ovarian insufficiency |
FSHR | Follicle stimulating hormone receptor | 136435 | 3969 | GC02M048866 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 |
- ↑ 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.