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| Mendeliome v1.4073 | C1orf146 | Zornitza Stark Marked gene: C1orf146 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4073 | C1orf146 | Zornitza Stark Gene: c1orf146 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4073 | C1orf146 |
Zornitza Stark gene: C1orf146 was added gene: C1orf146 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: C1orf146 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1orf146 were set to 40374915; 37270785 Phenotypes for gene: C1orf146 were set to Infertility disorder, MONDO:0005047, C1orf146-related Review for gene: C1orf146 was set to RED Added comment: PMID 37270785 reports a 36‑year‑old woman with a homozygous splice‑site loss‑of‑function SPO16 variant (c.160+8A>G) presenting with premature ovarian insufficiency; minigene splicing assays demonstrated exon 3 skipping. PMID 40374915 describes a male from a separate unrelated family carrying a homozygous frameshift SPO16 variant (c.266del) who has non‑obstructive azoospermia with meiotic arrest; no functional studies were performed. Sources: Literature |
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