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| Infertility and Recurrent Pregnancy Loss v0.86 | CATSPER1 | Zornitza Stark Marked gene: CATSPER1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.86 | CATSPER1 | Zornitza Stark Gene: catsper1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.86 | CATSPER1 | Zornitza Stark edited their review of gene: CATSPER1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.86 | CATSPER1 | Zornitza Stark Classified gene: CATSPER1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.86 | CATSPER1 | Zornitza Stark Gene: catsper1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.85 | CATSPER1 | Zornitza Stark Tag SV/CNV tag was added to gene: CATSPER1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.85 | CATSPER1 | Zornitza Stark reviewed gene: CATSPER1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 7, MIM# 612997; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.82 | CATSPER1 |
Jasmine Chew gene: CATSPER1 was added gene: CATSPER1 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: CATSPER1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CATSPER1 were set to 19344877; 11595941 Phenotypes for gene: CATSPER1 were set to Spermatogenic failure 7, MIM# 612997 Review for gene: CATSPER1 was set to GREEN Added comment: Literature in OMIM- PMID:19344877;11595941 - Homozygous Lys180LysfsTer8 (2 brother) and Asp317MetfsTer18 (unrelated male) in 3 infertile males from 2 consanguineous Iranian families. Both were truncating variants.CatSper1−/− mouse sperm were sluggish, showed less directed movement and exhibited impaired track speed, path velocity and progressive velocity.21 This markedly reduced motility was shown to eliminate the ability of CatSper-null sperm to fertilize oocytes in vitro. No new cases reported so far. Sources: Literature |
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