Template:Female Infertility Genes table 1: Difference between revisions
From Embryology
mNo edit summary |
mNo edit summary |
||
(5 intermediate revisions by the same user not shown) | |||
Line 10: | Line 10: | ||
! Diagnosis | ! Diagnosis | ||
|- | |- | ||
| | | {{BMP}}15 || Bone morphogenetic protein 15 || {{ChrX}}p11.22 || [https://www.omim.org/entry/300247 300247] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:1068 1068] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC0XP050910 GC0XP050910] || Primary ovarian insufficiency | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| CLPP || Caseinolytic mitochondrial matrix peptidase proteolytic subunit || {{Chr19}}p13.3 || [https://www.omim.org/entry/601119 601119] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:2084 2084] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC19P006369 GC19P006369] || Primary ovarian insufficiency | | CLPP || Caseinolytic mitochondrial matrix peptidase proteolytic subunit || {{Chr19}}p13.3 || [https://www.omim.org/entry/601119 601119] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:2084 2084] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC19P006369 GC19P006369] || Primary ovarian insufficiency | ||
Line 20: | Line 20: | ||
| FMR1 || Fragile X mental retardation 1 || {{ChrX}}q27.3 || [https://www.omim.org/entry/309550 309550] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:3775 3775] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC0XP147912 GC0XP147912] || Primary ovarian insufficiency | | FMR1 || Fragile X mental retardation 1 || {{ChrX}}q27.3 || [https://www.omim.org/entry/309550 309550] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:3775 3775] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC0XP147912 GC0XP147912] || Primary ovarian insufficiency | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| | | {{FOX}}L2 || Forkhead box L2 || {{Chr3}}q22.3 || [https://www.omim.org/entry/605597 605597] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:1092 1092] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC03M138944 GC03M138944] || Primary ovarian insufficiency | ||
|- | |- | ||
| FSHR || Follicle stimulating hormone receptor || {{Chr2}}p16.3 || [https://www.omim.org/entry/136435 136435] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:3969 3969] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC02M048866 GC02M048866] || Primary ovarian insufficiency | | FSHR || Follicle stimulating hormone receptor || {{Chr2}}p16.3 || [https://www.omim.org/entry/136435 136435] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:3969 3969] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC02M048866 GC02M048866] || Primary ovarian insufficiency | ||
Line 64: | Line 64: | ||
| TLE6 || Transducin-like enhancer of split 6 || {{Chr19}}p13.3 || [https://www.omim.org/entry/612399 612399] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:30788 30788] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC19P002976 GC19P002976] || Embryonic lethalithy | | TLE6 || Transducin-like enhancer of split 6 || {{Chr19}}p13.3 || [https://www.omim.org/entry/612399 612399] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:30788 30788] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC19P002976 GC19P002976] || Embryonic lethalithy | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| TUBB8 || Tubulin beta 8 Class VIII || {{ | | TUBB8 || Tubulin beta 8 Class VIII || {{Chr10}}p15.3 || [https://www.omim.org/entry/616768 616768] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:20773 20773] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC10M000048 GC10M000048] || Oocyte maturation arrest | ||
|- | |- | ||
| TWNK || Twinkle MtDNA helicase || {{Chr10}}q24.31 || [https://www.omim.org/entry/606075 606075] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:1160 1160] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC10P100991 GC10P100991] || Primary ovarian insufficiency | | TWNK || Twinkle MtDNA helicase || {{Chr10}}q24.31 || [https://www.omim.org/entry/606075 606075] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:1160 1160] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC10P100991 GC10P100991] || Primary ovarian insufficiency | ||
|- | |- | ||
|-bgcolor="F5FFFA" | |-bgcolor="F5FFFA" | ||
| Colspan= | | Colspan=7| Table data source{{#pmid:29199274|PMID29199274}} (table 1) '''Links:''' {{Fertilization}} | {{oocyte}} | {{ovary}} | | [[Template:Female Infertility Genes table 1|Female Infertility Genes]] | {{spermatozoa}} | {{testis}} | [[Template:Male Infertility Genes table 1|Male Infertility Genes]] | [[Abnormal Development - Genetic|Genetic Abnormalities]] | {{ART}}<br> | ||
|}<noinclude>[[Category:Table]][[Category:Fertilization]][[Category:Oocyte]][[Category:Ovary]][[Category:Female]]</noinclude> | Primary ovarian insufficiency - depletion or dysfunction of ovarian follicles with cessation of menses before age 40 years.<br> | ||
Oocyte maturation arrest - arrest of human oocytes may occur at different stages of {{meiosis}}. | |||
|}<noinclude>[[Category:Table]][[Category:Fertilization]][[Category:Oocyte]][[Category:Ovary]][[Category:Female]][[Category:Abnormal Development]][[Category:BMP]][[Category:FOX]]</noinclude> |
Latest revision as of 10:22, 7 June 2019
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. |
- ↑ 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.