Syndromic Retinopathy
Gene: KIF11EnsemblGeneIds (GRCh38): ENSG00000138160
EnsemblGeneIds (GRCh37): ENSG00000138160
OMIM: 148760, Gene2Phenotype
KIF11 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 30 unrelated individuals reported.
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphoedema, when present, is typically confined to the dorsa of the feet.Created: 28 Mar 2021, 7:07 a.m. | Last Modified: 28 Mar 2021, 7:07 a.m.
Panel Version: 0.159
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950; MONDO:0007918
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- RetNet
- Phenotypes
-
- Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950
- MONDO:0007918
- OMIM
- 148760
- Clinvar variants
- Variants in KIF11
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kif11 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: KIF11 were changed from Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MIM#152950 to Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950; MONDO:0007918
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: KIF11 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: KIF11 was added gene: KIF11 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIF11 were set to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MIM#152950