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| Infertility and Recurrent Pregnancy Loss v1.77 | SUN5 | Zornitza Stark Marked gene: SUN5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.77 | SUN5 | Zornitza Stark Gene: sun5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.77 | Zornitza Stark Copied gene SUN5 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.77 | SUN5 |
Zornitza Stark gene: SUN5 was added gene: SUN5 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature Mode of inheritance for gene: SUN5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUN5 were set to 34159570; 33671757; 27640305 Phenotypes for gene: SUN5 were set to Spermatogenic failure, MONDO:0004983, SUN5-related |
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| Infertility and Recurrent Pregnancy Loss v1.33 | CCDC188 |
Chirag Patel gene: CCDC188 was added gene: CCDC188 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature Mode of inheritance for gene: CCDC188 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC188 were set to 41004021 Phenotypes for gene: CCDC188 were set to Male infertility due to acephalic spermatozoa, MONDO:0035153 Review for gene: CCDC188 was set to GREEN Added comment: 2 patients from 2 unrelated families with acephalic spermatozoa syndrome. WES identified biallelic variants in CCDC188 gene (1 x homozygous, 1 x compound heterozygous). The variants (c.481C > T [p.Gln161*] and c.1022 + 1G > A [p. K325Afs*110]) were rare in gnomAD and segregated in the family with heterozygous carrier parents. Western blotting, RT-PCR, qPCR, and immunofluorescence showed depletion of CCDC188 protein (and SUN5 and PMFBP1 protein) in patient sperm. Mutations in SUN5 and PMFBP1 genes account for 75% patients with acephalic spermatozoa syndrome. Sources: Literature |
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