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POC5 – Autosomal Recessive Retinitis Pigmentosa

A single proband with retinitis pigmentosa, short stature and microcephaly was found to harbor a homozygous loss-of-function variant c.304_305del (p.Thr101_Asp102insTer) in POC5 under an autosomal recessive model (PMID:29272404). Immunohistochemistry localized POC5 to the photoreceptor connecting cilium, supporting a role in retinal structure.

Morpholino-mediated knockdown of poc5 in zebrafish led to shortened photoreceptor outer segments and reduced visual motor response, both fully rescued by wild-type human POC5 mRNA (PMID:29272404). These concordant functional data implicate POC5 insufficiency in photoreceptor dysfunction.

References

  • Human Molecular Genetics • 2018 • Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa. PMID:29272404

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

Single proband with homozygous LoF variant and supportive functional data

Genetic Evidence

Limited

One homozygous LoF variant in a single proband without segregation data

Functional Evidence

Moderate

Morpholino knockdown and rescue in zebrafish demonstrating retinal phenotype concordance