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PRICKLE1 – Unverricht-Lundborg Syndrome

Targeted sequencing of PRICKLE1 in 25 unrelated patients with Unverricht-Lundborg-like progressive myoclonus epilepsy revealed no pathogenic variants, arguing against its involvement in Unverricht-Lundborg syndrome (PMID:19847901). No segregation or functional data support a PRICKLE1-related mechanism in this disorder, and existing functional studies of PRICKLE1 address neural tube defects and other phenotypes rather than ULD.

References

  • Annals of neurology • 2009 • SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. PMID:19847901

Evidence Based Scoring (AI generated)

Gene–Disease Association

Refuted

No PRICKLE1 variants identified in 25 ULD-like PME cases refuting association (PMID:19847901)

Genetic Evidence

Limited

Absence of causative PRICKLE1 variants in targeted sequencing of ULD cohorts (PMID:19847901)

Functional Evidence

No Evidence

No functional assays or models demonstrate PRICKLE1 involvement in Unverricht-Lundborg syndrome