| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v2.270 | SPO11 | Zornitza Stark Marked gene: SPO11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.270 | SPO11 | Zornitza Stark Gene: spo11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.270 | SPO11 | Zornitza Stark Classified gene: SPO11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.270 | SPO11 | Zornitza Stark Gene: spo11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.269 | SPO11 |
Zornitza Stark gene: SPO11 was added gene: SPO11 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SPO11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPO11 were set to 42221552; 39932629; 29790874 Phenotypes for gene: SPO11 were set to Infertility disorder, MONDO:0005047, SPO11-related Review for gene: SPO11 was set to AMBER Added comment: PMID 39932629 reports 2 individuals from a single family with biallelic loss-of-function SPO11 variants causing non‑obstructive azoospermia (NOA) and meiotic arrest; PMID 29790874 reports 2 brothers from a second family with a homozygous missense SPO11 variant also presenting with NOA. PMID 42221552 reports 2 individuals from 2 families with biallelic SPO11 variants (one frameshift, one missense) manifesting as recurrent good‑quality cleavage‑stage blastulation failure, characterised by normal early cleavage but arrest at the morula/blastocyst stage and complex embryonic aneuploidy. Sources: Literature |
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