17q12 Knowledge Basedeletion syndrome · static snapshot
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Phenotype expansion kidney and urinary tract 1 supporting source confidence 97% novelty 90%

New observation reported: Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its …

A source describes a new or expanded observation: “Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its reclassification as a gene with 'disputed' association with aHUS by the ClinGen Complement-Mediated Kidney Diseases Working Group [ 32 ].”

How this was derived

Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pmc.

Generated 2026-11-14, last changed today. Dedup key expansion:2a1c55. The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.

Evidence (1 quote)

Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its reclassification as a gene with 'disputed' association with aHUS by the ClinGen Complement-Mediated Kidney Diseases Working Group [ 32 ].

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
Ten tips for ordering, interpreting, and communicating genetic test... pmc 2026-01-01 yesterday 1.00