WDPCP gene

• Overview
• Bardet-Biedl syndrome
• Additional information
• References

Overview

Gene (OMIM No.)	WDPCP (#613580)
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	Bardet-Biedl syndrome
Key investigations	Investigations for Bardet-Biedl syndrome
Molecular diagnosis	Next generation sequencing Targeted gene panels (retinal) Whole exome sequencing Whole genome sequencing
Management	Management of Bardet-Biedl syndrome
Therapies under research	None at present
Further information	OMIM

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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

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