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| Infertility and Recurrent Pregnancy Loss v2.0 | SPACA1 | Gene migrated from ENSG00000118434 to ENSG00000118434 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.109 | Bryony Thompson Copied gene SPACA1 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.109 | SPACA1 |
Bryony Thompson gene: SPACA1 was added gene: SPACA1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature Mode of inheritance for gene: SPACA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPACA1 were set to 34172998; 22949614 Phenotypes for gene: SPACA1 were set to spermatogenic failure MONDO:0004983 |
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| Infertility and Recurrent Pregnancy Loss v1.25 | TCFL5 |
Chirag Patel gene: TCFL5 was added gene: TCFL5 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature Mode of inheritance for gene: TCFL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TCFL5 were set to PMID: 40711600 Phenotypes for gene: TCFL5 were set to Oligoasthenoteratozoospermia MONDO:0850098 Review for gene: TCFL5 was set to RED Added comment: 2 brothers from non-consanguineous family with oligoasthenoteratozoospermia (OAT). WES identified missense variant in TCFL5 gene (c.1207G>A, p.E403K). Western blotting and immunofluorescence showed no significant effect on the expression of 'mutant' TCFL5. Dual-luciferase reporter assay revealed a serious impact on its transcriptional regulatory function. The variant disrupted the normal transcription of crucial genes involved in spermatogenesis (DMRT1, DAZL, SYCE1, SPACA1, CNTROB, IFT88, HOOK1 and SPATA6). Tcfl5+/- male mice manifest infertile due to OAT, while Tcfl5-/- mice can not be generated. Sources: Literature |
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