Gene: EVC

Alternate names for this Gene: DWF-1|EVC1|EVCL

Gene Summary: This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis.

Gene is located in Chromosome: 4

Location in Chromosome : 4p16.2

Description of this Gene: EvC ciliary complex subunit 1

Type of Gene: protein-coding

Gene: CRMP1

Alternate names for this Gene: CRMP-1|DPYSL1|DRP-1|DRP1|ULIP-3

Gene Summary: This gene encodes a member of a family of cytosolic phosphoproteins expressed exclusively in the nervous system. The encoded protein is thought to be a part of the semaphorin signal transduction pathway implicated in semaphorin-induced growth cone collapse during neural development. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 4

Location in Chromosome : 4p16.2

Description of this Gene: collapsin response mediator protein 1

Type of Gene: protein-coding

rs121908425 in EVC;CRMP1 gene and Ellis-Van Creveld Syndrome PMID 10700184 2000 Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.

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

PMID 17024374 2007 Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

PMID 23220543 2013 Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

PMID 29321360 2017 Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.

PMID 20184732 2010 Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.

PMID 19810119 2009 Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.

rs35926225 in EVC;CRMP1 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs35926225 in EVC;CRMP1 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs121908425 in EVC;CRMP1 gene and Weyers acrofacial dysostosis PMID 29068549 2018 Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

PMID 17024374 2007 Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

PMID 10700184 2000 Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.