WDPCP gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Protein: WD-repeat containing planar cell polarity effector
  • Involved in ciliogenesis and collective cell movement during embryogenesis
Clinical phenotype
(OMIM phenotype no.)
  • Candidate gene for Bardet-Biedl syndrome, 15 (#615992)
Inheritance
  • Autosomal recessive
Visual function
  • No information about the phenotype observed in the reported patients
Systemic features
Key investigations
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (retinal)
  • Whole exome sequencing
  • Whole genome sequencing
Management
Therapies under research
  • None at present
Further information

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Additional information

Only one patient was reported with homozygous variants in WDPCP, with confirmed familial segregation.[1] In this manuscript, other BBS and Meckel-Gruber (MKS) patients were reported with heterozygous variant in WDPCP which may have a modifier effect on the phenotype.

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References

  1.  Kim SK, Shindo A, Park TJ, Oh EC, Ghosh S, Gray RS, et al. Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis. Science. 2010 Sep 10;329(5997):1337–40

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Updated on November 30, 2020
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