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| Infertility and Recurrent Pregnancy Loss v0.133 | SPEF2 | Zornitza Stark Marked gene: SPEF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.133 | SPEF2 | Zornitza Stark Gene: spef2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.133 | SPEF2 | Zornitza Stark Classified gene: SPEF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.133 | SPEF2 | Zornitza Stark Gene: spef2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.82 | SPEF2 |
Jasmine Chew gene: SPEF2 was added gene: SPEF2 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: SPEF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPEF2 were set to 31151990; 31278745; 31048344; 39753944; 38568462 Phenotypes for gene: SPEF2 were set to Spermatogenic failure 43, MIM# 618751 Review for gene: SPEF2 was set to GREEN Added comment: Literature in OMIM- PubMed: 31151990, 31278745, 31048344 New papers i) PMID: 39753944 - two patients with MMAF carrying novel biallelic variants (homozygous p.Glu715Ter and com het p.Arg1123Gln/p.Ile193Thr). Functional analysis of two novel missense variants of SPEF2 demonstrated a mild impact on morphological extension in a transfected cell model. These cells exhibited alterations in cell diameter, likely reflecting impaired cargo protein transport due to SPEF2 mutations, thereby affecting cell growth and extension. ii) PMID: 38568462 -four novel SPEF2 variants, including one novel homozygous splicing site variant c.4447 + 1G > A, novel compound heterozygous nonsense variants p.R447* and p.E549* and one novel homozygous missense variant p.D842N. All variants were present at very low levels in public databases, predicted to be deleterious in silico prediction tools, and were further confirmed deleterious by in vitro analyses. Ultrastructural analyses of the spermatozoa of the patients revealed the absence of the central pair complex in the sperm flagella. Intolerome database- candidate gene for spontaneous miscarriage Sources: Literature |
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