| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Infertility and Recurrent Pregnancy Loss v1.38 | DDOST | Bryony Thompson Marked gene: DDOST as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.38 | DDOST | Bryony Thompson Gene: ddost has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.38 | DDOST | Bryony Thompson Classified gene: DDOST as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.38 | DDOST | Bryony Thompson Gene: ddost has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.37 | DDOST |
Bryony Thompson gene: DDOST was added gene: DDOST was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature Mode of inheritance for gene: DDOST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDOST were set to 41005306 Phenotypes for gene: DDOST were set to inherited oocyte maturation defect MONDO:0014769 Review for gene: DDOST was set to AMBER Added comment: 3 cases with embryonic arrest/abnormal fertilisation with biallelic DDOST variants (1 homozygous & 2 chets, phase not confirmed). No mention of any other phenotypes or assessment of transferrin glycolysation status in cases. Unsure if cases have DDOST-CDG. DDOST knock‑down in mouse oocytes reduces polar‑body extrusion & mutant DDOST proteins displayed altered subcellular localization in HeLa cells. Sources: Literature |
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