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| Infertility and Recurrent Pregnancy Loss v1.4 | SYCP3 | Zornitza Stark Classified gene: SYCP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.4 | SYCP3 | Zornitza Stark Gene: sycp3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.3 | SYCP3 | Zornitza Stark reviewed gene: SYCP3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.164 | SYCP3 | Zornitza Stark Marked gene: SYCP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.164 | SYCP3 | Zornitza Stark Gene: sycp3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.164 | SYCP3 | Zornitza Stark Classified gene: SYCP3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.164 | SYCP3 | Zornitza Stark Gene: sycp3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.17 | SYCP3 | Jasmine Chew edited their review of gene: SYCP3: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.12 | SYCP3 | Jasmine Chew reviewed gene: SYCP3: Rating: ; Mode of pathogenicity: None; Publications: 14643120, 19110213; Phenotypes: Spermatogenic failure 4, MIM# 270960, Recurrent pregnancy loss 4, MIM# 270960; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.12 | SYCP3 | Jasmine Chew Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.12 | SYCP3 | Jasmine Chew reviewed gene: SYCP3: Rating: ; Mode of pathogenicity: None; Publications: 14643120, 19110213; Phenotypes: Spermatogenic failure 4, MIM# 270960, Recurrent pregnancy loss 4, MIM# 270960; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.12 | SYCP3 | Jasmine Chew Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.12 | SYCP3 |
Jasmine Chew gene: SYCP3 was added gene: SYCP3 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: SYCP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SYCP3 were set to 14643120; 19110213 Phenotypes for gene: SYCP3 were set to Spermatogenic failure 4, Recurrent pregnancy loss 4, MIM# 270960 Review for gene: SYCP3 was set to GREEN Added comment: Spermatogenic failure 4, MIM# 270960 i) PMID: 14643120- identified a heterozygous 1-bp deletion (643delA) in 2 unrelated patients with azoospermia with with maturation arrest , resulting in a premature stop codon and truncation of the C-terminal, coiled-coil-forming region of the protein. The mutant protein showed greatly reduced interaction with the wildtype protein in vitro and interfered with SYCP3 fiber formation in cultured cells. The results suggested that SYCP3 has an essential meiotic function in human spermatogenesis that is compromised by the mutant protein by dominant-negative interference. Pregnancy loss, recurrent, 4, MIM# 270960 i) PMID: 19110213- identified a heterozygous deletion and a point variant (-16delACTT in intron 7 and 657T-C transition at the last nucleotide of exon 8) in 2 of the women with recurrent pregnancy loss that were not found in 150 fertile women. Both mutant proteins were shown to inhibit normal fiber formation of SYCP3 when coexpressed in a heterologous system. This suggested that the heterozygous variants are likely to form aberrant lateral elements in the synaptonemal complex in a dominant-negative manner, possibly leading to abnormal chromosomal behavior in meiosis I during oogenesis that might lead to recurrent miscarriage. Also noted that the SYCP3-related phenotype in humans, in which affected males are infertile whereas affected females have recurrent pregnancy loss, is similar to that seen in Sycp3-deficient mice (Yuan et al., 2000; Yuan et al., 2002). Sources: Literature |
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