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| Mendeliome v2.314 | SPOCD1 | chirag patel Marked gene: SPOCD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.314 | SPOCD1 | chirag patel Gene: spocd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.314 | SPOCD1 | chirag patel Classified gene: SPOCD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.314 | SPOCD1 | chirag patel Gene: spocd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.313 | SPOCD1 |
chirag patel gene: SPOCD1 was added gene: SPOCD1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SPOCD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPOCD1 were set to 38359823 Phenotypes for gene: SPOCD1 were set to Azoospermia, MONDO:0100459 Review for gene: SPOCD1 was set to GREEN Added comment: PMID 38359823 reports 3 males from 3 unrelated families (2 consanguineous) presenting with non‑obstructive azoospermia (male infertility). They found 3 rare homozygous SPOCD1 variants (p.(Leu971Arg), p.(Gln1119Thrfs*66), p.(Arg664Glnfs*57). Segregation in one family showed the parents and an unaffected brother were heterozygous for the variant. Testicular histology showed Sertoli‑cell‑only or meiotic arrest, and residual germ cells exhibited LINE‑1 de‑repression. SPOCD1 is a guardian of human male fertility and is required for transposon silencing. Protein‑expression assays show missense L971R disrupts SPOC‑domain folding, and the frameshift alleles truncated the protein, supporting loss‑of‑function as the disease mechanism. Sources: Literature |
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