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| Mendeliome v1.2735 | ACTL7A | Zornitza Stark Marked gene: ACTL7A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2735 | ACTL7A | Zornitza Stark Gene: actl7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2735 | ACTL7A | Zornitza Stark Classified gene: ACTL7A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2735 | ACTL7A | Zornitza Stark Gene: actl7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2734 | ACTL7A |
Zornitza Stark gene: ACTL7A was added gene: ACTL7A was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: ACTL7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACTL7A were set to 32923619; 34727571; 36593593; 37004249; 37991128; 36574082; 35921706 Phenotypes for gene: ACTL7A were set to Spermatogenic failure 86, #MIM 620499 Review for gene: ACTL7A was set to GREEN Added comment: Literature in OMIM entry- PubMed: 32923619, 34727571, 36593593, 37004249- different biallelic variants reported in >3 unrelated infertile men Other papers: i) PMID: 37991128 (2025)- two infertile males with com het p.R373H/p.G402S and hom p.R373C. All located within actin domain and predicted to be pathogenic.The protein expression of actin-like protein 7A was absent in affected spermatozoa by using immunofluorescence staining and western blotting. ii)PMID: 36574082 (2023)- Two infertile brothers with hom p.D75A with teratozoospermia and fertilization failure. Immunofluorescence revealed that ACTL7A protein was degraded in sperms of patients. Transmission electron microscopy (TEM) analysis of sperms from the infertile patients showed that the irregular perinuclear theca (PT) and acrosomal ultrastructural defects. The variant also caused abnormal localization and reduced the expression of PLCZ1 in sperms of the patients. iii) PMID: 35921706 (2022)- Actl7a gene knockout (KO) mice led to malformed formation of sperm acrosomes, male infertility, fertilization failure during in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI), and reduced sperm-zona pellucida (ZP) binding ability. Localization of the zona pellucida binding protein (ZPBP) was altered in the sperm of Actl7a homozygous KO male mice. Sources: Expert list |
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| Mendeliome v0.6485 | ACTL9 |
Elena Savva gene: ACTL9 was added gene: ACTL9 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ACTL9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACTL9 were set to PMID: 33626338 Phenotypes for gene: ACTL9 were set to Fertilization failure; male infertility Review for gene: ACTL9 was set to GREEN Added comment: Three families with homozygous pathogenic variants (two missense, one PTC). Single affected in each family. Functional analysis from patients shows all sperm had morphological defects, protein had reduced binding to ACTL7A All variants very rare in gnomAD. Sources: Literature |
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