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TCTN1 – Meckel syndrome

TCTN1 has been implicated in Meckel syndrome through zebrafish tctn1 null mutants that recapitulate ciliary transition zone defects and phenotypes analogous to human Meckel syndrome, with variable phenotypic penetrance suggesting the influence of genetic modifiers (PMID:36533556).

References

  • Disease Models & Mechanisms • 2022 • Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants. PMID:36533556

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

No reported human probands; supportive zebrafish model data ([PMID:36533556])

Genetic Evidence

Limited

Absence of human cases; inheritance presumed autosomal recessive; evidence limited to model organism

Functional Evidence

Moderate

Zebrafish tctn1 null mutants display Meckel-like phenotypes and confirm transition zone function ([PMID:36533556])