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| 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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| Mendeliome v0.10536 | TUBB4A | Zornitza Stark Marked gene: TUBB4A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10536 | TUBB4A | Zornitza Stark Gene: tubb4a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10536 | TUBB4A | Zornitza Stark Phenotypes for gene: TUBB4A were changed from to Dystonia 4, torsion, autosomal dominant, OMIM #128101; Leukodystrophy, hypomyelinating, 6, OMIM # 612438 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10535 | TUBB4A | Zornitza Stark Publications for gene: TUBB4A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10534 | TUBB4A | Zornitza Stark Mode of inheritance for gene: TUBB4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10533 | TUBB4A | Zornitza Stark reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24850488, 23582646, 23424103, 23595291, 33084096, 32943487; Phenotypes: Dystonia 4, torsion, autosomal dominant, OMIM #128101, Leukodystrophy, hypomyelinating, 6, OMIM # 612438; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | TUBB4A |
Zornitza Stark gene: TUBB4A was added gene: TUBB4A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TUBB4A was set to Unknown |
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