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| Mendeliome v1.4523 | ASB9 | Zornitza Stark edited their review of gene: ASB9: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4523 | ASB9 | Zornitza Stark Marked gene: ASB9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4523 | ASB9 | Zornitza Stark Gene: asb9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4523 | ASB9 | Zornitza Stark Mode of inheritance for gene: ASB9 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4522 | ASB9 | Zornitza Stark Classified gene: ASB9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4522 | ASB9 | Zornitza Stark Gene: asb9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4521 | ASB9 |
Zornitza Stark gene: ASB9 was added gene: ASB9 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ASB9 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ASB9 were set to 41730923 Phenotypes for gene: ASB9 were set to Infertility disorder, MONDO:0005047, ASB9-related Review for gene: ASB9 was set to GREEN Added comment: PMID 41730923 reports four unrelated male patients with hemizygous missense ASB9 variants presenting with idiopathic oligoasthenoteratozoospermia. Functional studies reveal reduced ASB9 protein stability, impaired interaction with TUBB4A, and mouse knockout/knock‑in models recapitulate the infertility phenotype, supporting a loss‑of‑function disease mechanism. Sources: Literature |
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