| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v2.202 | HENMT1 | Rylee Peters Marked gene: HENMT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.202 | HENMT1 | Rylee Peters Gene: henmt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.202 | HENMT1 | Rylee Peters Classified gene: HENMT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.202 | HENMT1 | Rylee Peters Gene: henmt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.201 | HENMT1 |
Rylee Peters gene: HENMT1 was added gene: HENMT1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: HENMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HENMT1 were set to 39318356; 39120570; 35172124 Phenotypes for gene: HENMT1 were set to Spermatogenic failure, MONDO:0004983, HENMT1-related Review for gene: HENMT1 was set to GREEN Added comment: Five families with autosomal recessive HENMT1 variants present with male infertility, ranging from non‑obstructive azoospermia to severe oligo‑astheno‑teratozoospermia with spermatogenic arrest. Functional studies reveal absent HENMT1 protein in patient sperm and mouse models recapitulating the infertile phenotype. Sources: Literature |
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