| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.4069 | MAEL | Zornitza Stark Marked gene: MAEL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4069 | MAEL | Zornitza Stark Gene: mael has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4069 | MAEL | Zornitza Stark Classified gene: MAEL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4069 | MAEL | Zornitza Stark Gene: mael has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4068 | MAEL |
Zornitza Stark gene: MAEL was added gene: MAEL was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MAEL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAEL were set to 40442410; 39122675 Phenotypes for gene: MAEL were set to Spermatogenic failure, MONDO:0004983, MAEL-related Review for gene: MAEL was set to AMBER Added comment: PMID 39122675 reports 1 individual and PMID 40442410 reports a second individual, together 2 unrelated families with autosomal recessive loss‑of‑function MAEL variants causing non‑obstructive azoospermia with meiotic arrest (male infertility). Functional evidence includes a minigene splicing assay and IHC loss of MAEL protein, as well as protein structural modelling, evolutionary conservation analysis, and a mouse knockout model that recapitulates spermatogenic failure. Sources: Literature |
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