|Gene (OMIM No.)|
|Function of gene/protein|
| Clinical phenotype|
(OMIM phenotype no.)
|Molecular diagnosis||Next generation sequencing|
|Therapies under research|
Only one patient was reported with homozygous variants in WDPCP, with confirmed familial segregation. 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.
- 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