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| Mendeliome v2.473 | PRRC2A | Sarah Milton Marked gene: PRRC2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.473 | PRRC2A | Sarah Milton Gene: prrc2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.473 | PRRC2A | Sarah Milton Classified gene: PRRC2A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.473 | PRRC2A | Sarah Milton Gene: prrc2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.472 | PRRC2A |
Sarah Milton gene: PRRC2A was added gene: PRRC2A was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PRRC2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRRC2A were set to 42411761 Phenotypes for gene: PRRC2A were set to Spermatogenic failure, MONDO:0004983, PRRC2A-related Review for gene: PRRC2A was set to AMBER Added comment: PRRC2A encodes proline rich coiled coil protein 2A which is involved in reading modified RNA specifically N6-methyladenosine (m6A). It is thought to have a role in meiotic progression. PMID 42411761 reports three individuals from two families with biallelic missense PRRC2A variants presenting with severe male factor infertility (non‑obstructive azoospermia or severe oligozoospermia). Testicular tissue shows markedly reduced PRRC2A protein, meiotic metaphase arrest, and disrupted m6A‑dependent RNA processing. Presumably loss of function is proposed mechanism, PMID: 30514900 reports a knockout mouse of PRR2CA resulting in significantly hypomyelination and cognitive deficits, as such unclear if a more multisystem phenotype would be expected with biallelic LOF variants in humans. Requires further literature to establish gene disease assocation. Sources: Literature |
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