present in Gene: KIF11
present in Chromosome: 10
Position on Chromosome: 92648359
Alleles of this Variant: TGAA/-
rs1554863044 in
KIF11 gene and
Dysmorphic features
PMID 28494495 2017 Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy.
PMID 27212378 2016 Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis.
PMID 28785766 2017 Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy.
PMID 25115524 2014 Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
PMID 25996076 2016 Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.
PMID 24281367 2014 Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.
PMID 25934493 2015 No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
PMID 25124931 2014 Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
PMID 22284827 2012 Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
PMID 26472404 2016 KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.