| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.2651 | TUBA1C | Zornitza Stark Marked gene: TUBA1C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2651 | TUBA1C | Zornitza Stark Gene: tuba1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2651 | TUBA1C | Zornitza Stark Classified gene: TUBA1C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2651 | TUBA1C | Zornitza Stark Gene: tuba1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2650 | TUBA1C |
Zornitza Stark gene: TUBA1C was added gene: TUBA1C was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TUBA1C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUBA1C were set to 39209701 Phenotypes for gene: TUBA1C were set to Oocyte/zygote/embryo maturation arrest 24, MIM# 621232 Review for gene: TUBA1C was set to GREEN Added comment: New paper (biallelic variants for OZEMA)- i) PMID: 39209701- patients 1 and 2 from unrelated families with primary infertility experiencing recurrent preimplantation embryo development arrest (RPEA) carrying homozygous nonsense variant (p.Gln358Ter) and frameshift deletion variant (p.Tyr444Metfs*42), respectively. Transfection studies showed that both variants caused a significant decrease in the abundance of encoded proteins and abnormal cytoplasmic localisation manifested as localised protein aggregation. Sources: Literature |
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