| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.5013 | ZMYND12 | Bryony Thompson Marked gene: ZMYND12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5013 | ZMYND12 | Bryony Thompson Gene: zmynd12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5013 | ZMYND12 | Bryony Thompson Classified gene: ZMYND12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5013 | ZMYND12 | Bryony Thompson Gene: zmynd12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5012 | ZMYND12 |
Bryony Thompson gene: ZMYND12 was added gene: ZMYND12 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ZMYND12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZMYND12 were set to 39066891; 37934199 Phenotypes for gene: ZMYND12 were set to Infertility disorder, MONDO:0005047 Review for gene: ZMYND12 was set to GREEN Added comment: PMID 39066891 and PMID 37934199 report five individuals from five unrelated families with biallelic loss-of-function ZMYND12 variants presenting with severe male infertility, including asthenozoospermia and multiple morphological abnormalities of the sperm flagellum. Affected men exhibit markedly reduced progressive sperm motility and abnormal flagellar morphology leading to primary infertility. Mouse Zmynd12 knockout recapitulates subfertility and reduced sperm velocity, and RNAi knock‑down of the ortholog in Trypanosoma reproduces flagellar motility defects, though rescue experiments are lacking. The recurrent c.433C>T stop‑gain variant occurs in three families across distinct populations, with evidence of independent origins. Sources: Literature |
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