×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.920
GeneticVariation
disease
CLINVAR
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
29068549
2018
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.920
GeneticVariation
disease
CLINVAR
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.
28332779
2017
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.920
CausalMutation
disease
CLINVAR
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.
28332779
2017
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.920
GeneticVariation
disease
BEFREE
We have identified a novel homozygous missense mutation in WDR35 (c.206G > A), a gene previously associated with Sensenbrenner Syndrome, Ellis-van Creveld syndrome and Short-rib polydactyly syndrome type V . The genetic findings in this family led to the re-evaluation of the initial diagnosis and a differential diagnosis of Sensenbrenner Syndrome was made after cautious re-examination of the patient.
28870638
2017
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.920
GeneticVariation
disease
CLINVAR
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.
28400947
2017
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.920
CausalMutation
disease
CLINVAR
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.
28400947
2017
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.920
GeneticVariation
disease
UNIPROT
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.
28400947
2017
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.920
GeneticVariation
disease
BEFREE
WDR35 , an intraflagellar transport protein previously associated with cranioectodermal dysplasia, the more severe short rib polydactyly syndrome type V and recently Ellis van Creveld syndrome, is present within a region of homozygosity and sequencing of all coding exons identified a novel homozygous nonsynonymous variant, p.Trp1153Cys .
26691894
2016
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.920
GeneticVariation
disease
UNIPROT
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
27158779
2016
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.920
GeneticVariation
disease
CLINVAR
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
27158779
2016
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.920
GeneticVariation
disease
CLINVAR
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.
25908617
2015
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.920
CausalMutation
disease
CLINVAR
Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.
25914204
2015
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.920
GeneticVariation
disease
CLINVAR
Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.
25914204
2015
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.920
CausalMutation
disease
CLINVAR
Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).
22486404
2013
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.920
GeneticVariation
disease
CLINVAR
Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).
22486404
2013
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.920
GeneticVariation
disease
CLINVAR
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
21473986
2011
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.920
GeneticVariation
disease
UNIPROT
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
21473986
2011
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.920
Biomarker
disease
GENOMICS_ENGLAND
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
21473986
2011
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.920
Biomarker
disease
MGD
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
21473986
2011
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.920
GermlineCausalMutation
disease
ORPHANET
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
21473986
2011
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.920
GermlineCausalMutation
disease
ORPHANET
An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings.
17935248
2007
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.920
Biomarker
disease
GENOMICS_ENGLAND