Gene: WDR35

Alternate names for this Gene: CED2|FAP118|IFT121|IFTA1|SRTD7

Gene Summary: This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.

Gene is located in Chromosome: 2

Location in Chromosome : 2p24.1

Description of this Gene: WD repeat domain 35

Type of Gene: protein-coding

rs199952377 in WDR35 gene and CRANIOECTODERMAL DYSPLASIA 2 PMID 25914204 2015 Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.

PMID 22486404 2013 Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).

PMID 28332779 2017 Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.

PMID 20817137 2010 Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

PMID 21473986 2011 Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.

PMID 29068549 2018 Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

PMID 25908617 2015 Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.

PMID 28870638 2017 Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.

rs199952377 in WDR35 gene and Cranioectodermal dysplasia PMID 22486404 2013 Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).

PMID 25914204 2015 Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.

PMID 28332779 2017 Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.

rs1381817 in WDR35 gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

rs1050086118 in WDR35 gene and SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY PMID 28400947 2017 Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.

PMID 28332779 2017 Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.

PMID 25914204 2015 Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.

PMID 22486404 2013 Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).

PMID 27158779 2016 The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.

PMID 21473986 2011 Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.

PMID 29068549 2018 Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

PMID 25908617 2015 Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.

rs113386058 in WDR35 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.