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| Infertility and Recurrent Pregnancy Loss v0.56 | TUBB8 | Zornitza Stark Marked gene: TUBB8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.56 | TUBB8 | Zornitza Stark Gene: tubb8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.56 | TUBB8 | Zornitza Stark Classified gene: TUBB8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.56 | TUBB8 | Zornitza Stark Gene: tubb8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.17 | TUBB8 |
Jasmine Chew gene: TUBB8 was added gene: TUBB8 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: TUBB8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TUBB8 were set to 26789871; 27273344; 33970371; 39834092 Phenotypes for gene: TUBB8 were set to Oocyte/zygote/embryo maturation arrest 2, MIM# 616780 Review for gene: TUBB8 was set to GREEN Added comment: Literature from OMIM (PMID: 26789871;27273344)- multiple familial cases and supporting functional evidence (monoallelic- dominant-negative effect; biallelic- functionally null, disrupt spindle assembly and cause abnormalities in oocyte maturation, fertilization, and embryonic development) More recent supporting evidence- i) PMID: 39834092- functional evidence elucidating how TUBB8 missense variants cause oocyte maturation arrest ii) PMID: 33970371- 29 variants in TUBB8 from 32 independent families with female infertility, of which 20 were novel, expanding the variant spectrum of TUBB8 (i.e., extremely involved in complete cleavage failure and embryonic arrest) Sources: Literature |
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