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| Infertility and Recurrent Pregnancy Loss v0.74 | DNAH11 | Zornitza Stark Marked gene: DNAH11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.74 | DNAH11 | Zornitza Stark Gene: dnah11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.74 | DNAH11 | Zornitza Stark Classified gene: DNAH11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.74 | DNAH11 | Zornitza Stark Gene: dnah11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.63 | DNAH11 |
Jasmine Chew gene: DNAH11 was added gene: DNAH11 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH11 were set to 39256880; 32172300 Phenotypes for gene: DNAH11 were set to Ciliary dyskinesia, primary, 7, with or without situs inversus, # MIM 611884 Added comment: i) PMID: 39256880- Four unrelated asthenoteratozoospermia Chinese males with biallelic deleterious variants in the DNAH11 gene, and 7 of those variants are novel. These variants led the absence of DNAH11 proteins and ultrastructure defects in sperm flagella, particularly affecting the outer dynein arms (ODAs) and adjacent structures. The levels of ODA protein DNAI2 and axoneme related proteins were down regulated. ii) PMID: 32172300- One infertile woman with a homozygous truncating variant, p.(Arg3229Trp), presented with primary infertility only. She had three cycles of IVF and had one clinical pregnancy that, unfortunately, ended in a spontaneous loss during first trimester. Sources: Literature |
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